MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Hereditary Sensory and Autonomic Neuropathies (D009477)
..Starting node ..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Child Nodes:
Sister Nodes:
..CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..Cervical hypertrichosis neuropathy (C537956)
..Dysautonomia, Familial (D004402) 1
..Hamanishi Ueba Tsuji syndrome (C535624)
..Hereditary Sensory and Autonomic Neuropathy Type Ie (C580162)
..Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia (C563870)
..Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux (C564296)
..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
..Neuropathy, Hereditary Sensory And Autonomic, Type IIB (C567738)
..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
..NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
..NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
..NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
..NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
..Neuropathy, Hereditary Sensory, X-Linked (C564090)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8853

Name:

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI

Definition:

Alternative IDs:

DO:DOID:0070151

ParentIDs:

MESH:D009477

TreeNumbers:

C10.500.250/614653 |C10.574.500.493/614653 |C10.668.829.800.175/614653 |C16.131.666.310/614653 |C16.320.400.415/614653

Synonyms:

HSAN6 |HSAN VI

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: 614653
MeSH: 614653
OMIM: 614653;
MSeqDR :
Genes: DST;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000522	Alacrima
3	HP:0002104	Apnea
4	HP:0001284	Areflexia
5	HP:0007610	Blotching pigmentation of the skin
6	HP:0001662	Bradycardia
7	HP:0000559	Corneal scarring
8	HP:0011968	Feeding difficulties
9	HP:0001945	Fever
10	HP:0001371	Flexion contracture
11	HP:0001510	Growth delay NAMDC: Growth delay
12	HP:0001188	Hand clenching
13	HP:0000218	High palate	HP:0040283
14	HP:0000975	Hyperhidrosis
15	HP:0003093	Limited hip extension
16	HP:0000369	Low-set ears	HP:0040283
17	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
18	HP:0000194	Open mouth
19	HP:0002093	Respiratory insufficiency
20	HP:0000763	Sensory neuropathy
21	HP:0000331	Short chin	HP:0040283
22	HP:0001649	Tachycardia
23	HP:0001762	Talipes equinovarus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NC_000006.11:g.(?_56323793)_(56507596_?)dup	667	DST	Uncertain significance	-1	RCV000809299;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323793	56507596	na	na		-
NC_000006.12:g.(?_56458995)_(56642798_?)del	667	DST	Pathogenic	-1	RCV001033643;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323793	56507596	na	na	-1	-
NM_001374736.1(DST):c.23438del (p.Asp7813fs)	667	DST	Uncertain significance	-1	RCV001367378;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323822	56323822	GT	G	56323821	-
NM_001374736.1(DST):c.23437G>A (p.Asp7813Asn)	667	DST	Uncertain significance	rs956139209	RCV001247638;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56323823	56323823	C	T	6:g.56323823C>T	-
NM_001374736.1(DST):c.23435T>G (p.Leu7812Trp)	667	DST	Uncertain significance	-1	RCV001367243;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323825	56323825	A	C	56323825	-
NM_001374736.1(DST):c.23433A>G (p.Lys7811=)	667	DST	Likely benign	-1	RCV001474737;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323827	56323827	T	C	56323827	-
NM_001374736.1(DST):c.23432A>G (p.Lys7811Arg)	667	DST	Uncertain significance	rs201891015	RCV001242561;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56323828	56323828	T	C	6:g.56323828T>C	-
NM_001374736.1(DST):c.23425G>C (p.Ala7809Pro)	667	DST	Uncertain significance	-1	RCV001955668;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56323835	56323835	C	G	56323835	-
NM_001374736.1(DST):c.23415G>A (p.Arg7805=)	667	DST	Likely benign	-1	RCV001490249;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323845	56323845	C	T	56323845	-
NM_001374736.1(DST):c.23406G>A (p.Thr7802=)	667	DST	Likely benign	-1	RCV001411394;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323854	56323854	C	T	56323854	-
NM_001374736.1(DST):c.23405C>T (p.Thr7802Met)	667	DST	Uncertain significance	rs367598583	RCV001245650;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56323855	56323855	G	A	6:g.56323855G>A	-
NM_001374736.1(DST):c.23402C>T (p.Pro7801Leu)	667	DST	Likely pathogenic	rs1242078669	RCV000754750;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56323858	56323858	G	A	NC_000006.11:g.56323858G>A	-
NM_001374736.1(DST):c.23385G>A (p.Ala7795=)	667	DST	Likely benign	-1	RCV001466797;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323875	56323875	C	T	56323875	-
NM_001374736.1(DST):c.23361A>G (p.Arg7787=)	667	DST	Likely benign	-1	RCV001410536;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323899	56323899	T	C	56323899	-
NM_001374736.1(DST):c.23360G>A (p.Arg7787Gln)	667	DST	Uncertain significance	-1	RCV002015617;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323900	56323900	C	T	56323900	-
NM_001374736.1(DST):c.23334C>G (p.Val7778=)	667	DST	Likely benign	-1	RCV001428407;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56323926	56323926	G	C	56323926	-
NM_001374736.1(DST):c.23321A>C (p.Asp7774Ala)	667	DST	Uncertain significance	-1	RCV001887913;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56323939	56323939	T	G	56323939	-
NM_001374736.1(DST):c.23311G>A (p.Val7771Met)	667	DST	Uncertain significance	-1	RCV001359472;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56323949	56323949	C	T	56323949	-
NM_001374736.1(DST):c.23310C>T (p.Ser7770=)	667	DST	Likely benign	-1	RCV001448604;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323950	56323950	G	A	56323950	-
NM_001374736.1(DST):c.23264G>A (p.Arg7755His)	667	DST	Uncertain significance	-1	RCV002004676;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56323996	56323996	C	T	56323996	-
NM_001374736.1(DST):c.23263C>T (p.Arg7755Cys)	667	DST	Uncertain significance	rs868335418	RCV001307740;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56323997	56323997	G	A	56323997	-
NM_001374736.1(DST):c.23250C>T (p.Ser7750=)	667	DST	Likely benign	-1	RCV002181469;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324010	56324010	G	A	56324010	-
NM_001374736.1(DST):c.23234G>A (p.Gly7745Glu)	667	DST	Uncertain significance	-1	RCV001968665;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324026	56324026	C	T	56324026	-
NM_001374736.1(DST):c.23228G>A (p.Arg7743Gln)	667	DST	Uncertain significance	rs762220017	RCV001244951\|RCV001357327;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN169374	6	56324032	56324032	C	T	6:g.56324032C>T	-
NM_001374736.1(DST):c.23220A>T (p.Pro7740=)	667	DST	Likely benign	-1	RCV001435076;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324040	56324040	T	A	56324040	-
NM_001374736.1(DST):c.23205G>T (p.Lys7735Asn)	667	DST	Uncertain significance	rs1476392770	RCV001245796;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324055	56324055	C	A	6:g.56324055C>A	-
NM_001374736.1(DST):c.23201A>T (p.Lys7734Met)	667	DST	Uncertain significance	rs1168581623	RCV001248043;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324059	56324059	T	A	6:g.56324059T>A	-
NM_001374736.1(DST):c.23195A>T (p.Asp7732Val)	667	DST	Uncertain significance	rs2094197198	RCV001241870;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324065	56324065	T	A	6:g.56324065T>A	-
NM_001374736.1(DST):c.23195-8T>C	667	DST	Likely benign	-1	RCV001419149;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324073	56324073	A	G	56324073	-
NM_001374736.1(DST):c.23194+19T>A	667	DST	Likely benign	-1	RCV002190947;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324910	56324910	A	T	56324910	-
NM_001374736.1(DST):c.23187G>A (p.Gln7729=)	667	DST	Benign	-1	RCV001514458;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56324936	56324936	C	T	56324936	-
NM_001374736.1(DST):c.23183C>T (p.Thr7728Ile)	667	DST	Uncertain significance	-1	RCV001365782;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56324940	56324940	G	A	56324940	-
NM_001374736.1(DST):c.23173A>G (p.Arg7725Gly)	667	DST	Uncertain significance	-1	RCV001969614;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324950	56324950	T	C	56324950	-
NM_001374736.1(DST):c.23141A>C (p.Glu7714Ala)	667	DST	Uncertain significance	-1	RCV002023189;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56324982	56324982	T	G	56324982	-
NM_001374736.1(DST):c.23094G>A (p.Lys7698=)	667	DST	Likely benign	-1	RCV001422114;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56325029	56325029	C	T	56325029	-
NM_001374736.1(DST):c.23093A>G (p.Lys7698Arg)	667	DST	Uncertain significance	rs2094258869	RCV001239928;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56325030	56325030	T	C	6:g.56325030T>C	-
NM_001374736.1(DST):c.23090G>A (p.Ser7697Asn)	667	DST	Uncertain significance	rs1337269536	RCV001347750;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56325033	56325033	C	T	56325033	-
NM_001374736.1(DST):c.23079A>G (p.Pro7693=)	667	DST	Likely benign	-1	RCV001418027;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56325044	56325044	T	C	56325044	-
NM_001374736.1(DST):c.23076G>A (p.Thr7692=)	667	DST	Likely benign	-1	RCV001490647;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56325047	56325047	C	T	56325047	-
NM_001374736.1(DST):c.23075C>T (p.Thr7692Met)	667	DST	Uncertain significance	-1	RCV001924304;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56325048	56325048	G	A	56325048	-
NM_001374736.1(DST):c.23071-2A>G	667	DST	Likely pathogenic	-1	RCV001976172;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56325054	56325054	T	C	56325054	-
NM_001374736.1(DST):c.23071-18G>A	667	DST	Likely benign	-1	RCV002167555;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56325070	56325070	C	T	56325070	-
NM_001374736.1(DST):c.23070+7T>G	667	DST	Likely benign	-1	RCV002157630;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327837	56327837	A	C	56327837	-
NM_001374736.1(DST):c.23065G>A (p.Ala7689Thr)	667	DST	Benign	-1	RCV001510452\|RCV001664907\|RCV001664906;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143	6	56327849	56327849	C	T	56327849	-
NM_001374736.1(DST):c.23061A>T (p.Pro7687=)	667	DST	Likely benign	-1	RCV001451925;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327853	56327853	T	A	56327853	-
NM_001374736.1(DST):c.23058G>A (p.Val7686=)	667	DST	Benign/Likely benign	-1	RCV001510454\|RCV001732192;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56327856	56327856	C	T	56327856	-
NM_001374736.1(DST):c.23056G>A (p.Val7686Met)	667	DST	Uncertain significance	rs774799170	RCV000803193;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327858	56327858	C	T	6:g.56327858C>T	-
NM_001374736.1(DST):c.23055C>T (p.Pro7685=)	667	DST	Likely benign	rs201991278	RCV000979603;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327859	56327859	G	A	6:g.56327859G>A	-
NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser)	667	DST	Conflicting interpretations of pathogenicity	rs201138592	RCV000578982\|RCV000980803;	N	MedGen:CN169374\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327879	56327879	C	A	6:g.56327879C>A	ClinGen:CA3866063	CN169374 not specified;
NM_001374736.1(DST):c.23025T>C (p.Pro7675=)	667	DST	Likely benign	-1	RCV002198289;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56327889	56327889	A	G	56327889	-
NM_001374736.1(DST):c.23022T>A (p.Thr7674=)	667	DST	Likely benign	-1	RCV001405651;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327892	56327892	A	T	56327892	-
NM_001374736.1(DST):c.23016G>A (p.Met7672Ile)	667	DST	Uncertain significance	-1	RCV001924415;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56327898	56327898	C	T	56327898	-
NM_001374736.1(DST):c.23015T>C (p.Met7672Thr)	667	DST	Uncertain significance	rs751377992	RCV001342824;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56327899	56327899	A	G	56327899	-
NM_001374736.1(DST):c.22997G>C (p.Trp7666Ser)	667	DST	Uncertain significance	rs1035396080	RCV001239035;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327917	56327917	C	G	6:g.56327917C>G	-
NM_001374736.1(DST):c.22993C>G (p.Pro7665Ala)	667	DST	Uncertain significance	-1	RCV001986538;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327921	56327921	G	C	56327921	-
NM_001374736.1(DST):c.22987G>T (p.Gly7663Cys)	667	DST	Uncertain significance	rs1426250382	RCV001239804;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327927	56327927	C	A	6:g.56327927C>A	-
NM_001374736.1(DST):c.22982A>G (p.Asn7661Ser)	667	DST	Uncertain significance	-1	RCV001992722;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56327932	56327932	T	C	56327932	-
NM_001374736.1(DST):c.22979G>A (p.Arg7660His)	667	DST	Uncertain significance	rs746310021	RCV000822745;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56327935	56327935	C	T	6:g.56327935C>T	-
NM_001374736.1(DST):c.22978C>T (p.Arg7660Cys)	667	DST	Uncertain significance	-1	RCV001949891;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327936	56327936	G	A	56327936	-
NM_001374736.1(DST):c.22964T>C (p.Leu7655Pro)	667	DST	Uncertain significance	rs375019954	RCV001248466;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327950	56327950	A	G	6:g.56327950A>G	-
NM_001374736.1(DST):c.22963C>T (p.Leu7655Phe)	667	DST	Uncertain significance	-1	RCV001363464;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56327951	56327951	G	A	56327951	-
NM_001374736.1(DST):c.22960-8C>T	667	DST	Likely benign	-1	RCV002129484;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56327962	56327962	G	A	56327962	-
NM_001374736.1(DST):c.22959+3A>G	667	DST	Uncertain significance	rs375303601	RCV001239595\|RCV001699523;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56328360	56328360	T	C	6:g.56328360T>C	-
NM_001374736.1(DST):c.22959+1G>A	667	DST	Likely pathogenic	rs2094441686	RCV001241867;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328362	56328362	C	T	6:g.56328362C>T	-
NM_001374736.1(DST):c.22955C>T (p.Pro7652Leu)	667	DST	Uncertain significance	-1	RCV001371560;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328367	56328367	G	A	56328367	-
NM_001374736.1(DST):c.22950C>A (p.Thr7650=)	667	DST	Likely benign	-1	RCV002085724;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328372	56328372	G	T	56328372	-
NM_001374736.1(DST):c.22939C>T (p.Pro7647Ser)	667	DST	Uncertain significance	rs201952309	RCV001241383;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328383	56328383	G	A	6:g.56328383G>A	-
NM_001374736.1(DST):c.22934A>T (p.Gln7645Leu)	667	DST	Uncertain significance	rs2094442685	RCV001339140;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328388	56328388	T	A	56328388	-
NM_001374736.1(DST):c.22932A>C (p.Pro7644=)	667	DST	Benign	rs374094129	RCV000981885;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328390	56328390	T	G	6:g.56328390T>G	-
NM_001374736.1(DST):c.22922C>T (p.Ala7641Val)	667	DST	Uncertain significance	rs750916776	RCV001299771;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328400	56328400	G	A	56328400	-
NM_001374736.1(DST):c.22917G>A (p.Ala7639=)	667	DST	Likely benign	-1	RCV001435550;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328405	56328405	C	T	56328405	-
NM_001374736.1(DST):c.22916C>T (p.Ala7639Val)	667	DST	Conflicting interpretations of pathogenicity	rs201429821	RCV000979588\|RCV001081929;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328406	56328406	G	A	6:g.56328406G>A	-
NM_001374736.1(DST):c.22896T>C (p.Thr7632=)	667	DST	Benign/Likely benign	rs200781365	RCV000979093\|RCV001699496;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56328426	56328426	A	G	6:g.56328426A>G	-
NM_001374736.1(DST):c.22893C>T (p.Ser7631=)	667	DST	Likely benign	-1	RCV001465132;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328429	56328429	G	A	56328429	-
NM_001374736.1(DST):c.22886A>G (p.Asn7629Ser)	667	DST	Uncertain significance	rs1270972086	RCV001239513;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328436	56328436	T	C	6:g.56328436T>C	-
NM_001374736.1(DST):c.22875C>A (p.Gly7625=)	667	DST	Likely benign	-1	RCV002150875;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328447	56328447	G	T	56328447	-
NM_001374736.1(DST):c.22863A>C (p.Pro7621=)	667	DST	Likely benign	-1	RCV002111511;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328459	56328459	T	G	56328459	-
NM_001374736.1(DST):c.22857C>G (p.Ser7619=)	667	DST	Likely benign	-1	RCV001431543;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328465	56328465	G	C	56328465	-
NM_001374736.1(DST):c.22849C>G (p.Arg7617Gly)	667	DST	Uncertain significance	rs2094446184	RCV001301383;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328473	56328473	G	C	56328473	-
NM_001374736.1(DST):c.22844G>A (p.Arg7615Gln)	667	DST	Uncertain significance	-1	RCV001369142;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328478	56328478	C	T	56328478	-
NM_001374736.1(DST):c.22843C>T (p.Arg7615Ter)	667	DST	Pathogenic	rs948596983	RCV001247773;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328479	56328479	G	A	6:g.56328479G>A	-
NM_001374736.1(DST):c.22838G>A (p.Arg7613Gln)	667	DST	Uncertain significance	-1	RCV001988899;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328484	56328484	C	T	56328484	-
NM_001374736.1(DST):c.22826T>C (p.Met7609Thr)	667	DST	Uncertain significance	-1	RCV001926393;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328496	56328496	A	G	56328496	-
NM_001374736.1(DST):c.22822G>T (p.Gly7608Cys)	667	DST	Uncertain significance	rs753485138	RCV001335760\|RCV001242889;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328500	56328500	C	A	6:g.56328500C>A	-
NM_001374736.1(DST):c.22811G>A (p.Gly7604Asp)	667	DST	Uncertain significance	-1	RCV001947790;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328511	56328511	C	T	56328511	-
NM_001374736.1(DST):c.22805C>T (p.Ala7602Val)	667	DST	Uncertain significance	rs375687689	RCV001242957;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328517	56328517	G	A	6:g.56328517G>A	-
NM_001374736.1(DST):c.22798A>G (p.Ile7600Val)	667	DST	Uncertain significance	-1	RCV001944571;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328524	56328524	T	C	56328524	-
NM_001374736.1(DST):c.22787G>A (p.Arg7596His)	667	DST	Uncertain significance	rs746750215	RCV001240859;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56328535	56328535	C	T	6:g.56328535C>T	-
NM_001374736.1(DST):c.22786C>T (p.Arg7596Cys)	667	DST	Uncertain significance	-1	RCV002003242;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328536	56328536	G	A	56328536	-
NM_001374736.1(DST):c.22764A>G (p.Lys7588=)	667	DST	Likely benign	-1	RCV001394181;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56328558	56328558	T	C	56328558	-
NM_001374736.1(DST):c.22720G>T (p.Glu7574Ter)	667	DST	Pathogenic	-1	RCV001775447;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56329522	56329522	C	A	56329522	-
NM_001374736.1(DST):c.22687+18A>G	667	DST	Likely benign	-1	RCV002107758;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56330858	56330858	T	C	56330858	-
NM_001374736.1(DST):c.22687+15A>C	667	DST	Benign	-1	RCV002185765;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56330861	56330861	T	G	56330861	-
NC_000006.11:g.56330866-?_56331003+?del	667	DST	Pathogenic	-1	RCV001390146;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56330866	56330866	na	na	-1	-
NM_001374736.1(DST):c.22642T>A (p.Trp7548Arg)	667	DST	Uncertain significance	rs2094566911	RCV001304824;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56330921	56330921	A	T	56330921	-
NM_001374736.1(DST):c.22601G>A (p.Arg7534Gln)	667	DST	Uncertain significance	rs1255175152	RCV001243300;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56330962	56330962	C	T	6:g.56330962C>T	-
NM_001374736.1(DST):c.22593A>T (p.Arg7531=)	667	DST	Likely benign	-1	RCV001488991;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56330970	56330970	T	A	56330970	-
NM_001374736.1(DST):c.22593A>G (p.Arg7531=)	667	DST	Likely benign	-1	RCV002115423;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56330970	56330970	T	C	56330970	-
NM_001374736.1(DST):c.22584G>A (p.Gln7528=)	667	DST	Likely benign	-1	RCV002196485;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56330979	56330979	C	T	56330979	-
NM_001374736.1(DST):c.22570-4A>G	667	DST	Uncertain significance	rs199834581	RCV000804073;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56330997	56330997	T	C	6:g.56330997T>C	-
NM_001374736.1(DST):c.22570-17C>G	667	DST	Benign	-1	RCV002118134;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56331010	56331010	G	C	56331010	-
NM_001374736.1(DST):c.22558C>T (p.Leu7520=)	667	DST	Likely benign	-1	RCV002161740;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56333791	56333791	G	A	56333791	-
NM_001374736.1(DST):c.22551+16A>G	667	DST	Likely benign	-1	RCV002144748;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56334665	56334665	T	C	56334665	-
NM_001374736.1(DST):c.22551+8T>C	667	DST	Likely benign	-1	RCV001470711;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56334673	56334673	A	G	56334673	-
NM_001374736.1(DST):c.22530G>C (p.Gln7510His)	667	DST	Uncertain significance	rs750236520	RCV001242697;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56334702	56334702	C	G	6:g.56334702C>G	-
NM_001374736.1(DST):c.22484G>T (p.Arg7495Met)	667	DST	Uncertain significance	-1	RCV001933675;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56334748	56334748	C	A	56334748	-
NM_001374736.1(DST):c.22477-14A>G	667	DST	Likely benign	-1	RCV002084279;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56334769	56334769	T	C	56334769	-
NM_001374736.1(DST):c.22476+1G>A	667	DST	Likely pathogenic	-1	RCV002021742;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56334925	56334925	C	T	56334925	-
NM_001374736.1(DST):c.22470A>G (p.Glu7490=)	667	DST	Likely benign	-1	RCV002120260;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56334932	56334932	T	C	56334932	-
NM_001374736.1(DST):c.22467C>T (p.Ile7489=)	667	DST	Likely benign	-1	RCV001398630;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56334935	56334935	G	A	56334935	-
NM_001374736.1(DST):c.22458C>T (p.Ala7486=)	667	DST	Likely benign	rs554828969	RCV000979884;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56334944	56334944	G	A	6:g.56334944G>A	-
NM_001374736.1(DST):c.22455T>C (p.Asp7485=)	667	DST	Likely benign	-1	RCV001440621;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56334947	56334947	A	G	56334947	-
NM_001374736.1(DST):c.22429A>G (p.Lys7477Glu)	667	DST	Uncertain significance	-1	RCV001989195;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56334973	56334973	T	C	56334973	-
NM_001374736.1(DST):c.22413A>C (p.Ala7471=)	667	DST	Likely benign	-1	RCV001490198;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56334989	56334989	T	G	56334989	-
NM_001374736.1(DST):c.22383T>A (p.Asp7461Glu)	667	DST	Uncertain significance	-1	RCV001892906;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56335019	56335019	A	T	56335019	-
NM_001374736.1(DST):c.22380C>T (p.Gly7460=)	667	DST	Uncertain significance	-1	RCV001935565;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56335022	56335022	G	A	56335022	-
NM_001374736.1(DST):c.22377T>C (p.Asp7459=)	667	DST	Likely benign	-1	RCV002102523;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56335025	56335025	A	G	56335025	-
NM_001374736.1(DST):c.22363A>G (p.Ile7455Val)	667	DST	Uncertain significance	-1	RCV001931362;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56335039	56335039	T	C	56335039	-
NM_001374736.1(DST):c.22359A>C (p.Ala7453=)	667	DST	Likely benign	-1	RCV002199346;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56335043	56335043	T	G	56335043	-
NM_001374736.1(DST):c.22351G>A (p.Ala7451Thr)	667	DST	Uncertain significance	-1	RCV001995705;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56335051	56335051	C	T	56335051	-
NM_001374736.1(DST):c.22350C>T (p.Ser7450=)	667	DST	Likely benign	-1	RCV002104631;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56335052	56335052	G	A	56335052	-
NM_001374736.1(DST):c.22338C>T (p.Arg7446=)	667	DST	Likely benign	-1	RCV002183068;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56335064	56335064	G	A	56335064	-
NM_001374736.1(DST):c.22337G>A (p.Arg7446His)	667	DST	Uncertain significance	rs768427386	RCV001241058;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56335065	56335065	C	T	6:g.56335065C>T	-
NM_001374736.1(DST):c.22322-20C>T	667	DST	Likely benign	-1	RCV002209946;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56335100	56335100	G	A	56335100	-
NM_001374736.1(DST):c.22321+13A>G	667	DST	Benign	-1	RCV002129798;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56335891	56335891	T	C	56335891	-
NM_001374736.1(DST):c.22318T>A (p.Ser7440Thr)	667	DST	Uncertain significance	-1	RCV002010601;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56335907	56335907	A	T	56335907	-
NM_001374736.1(DST):c.22312C>A (p.Leu7438Ile)	667	DST	Uncertain significance	-1	RCV001905866;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56335913	56335913	G	T	56335913	-
NM_001374736.1(DST):c.22305T>C (p.Asp7435=)	667	DST	Benign/Likely benign	rs114094997	RCV000979025\|RCV001766801;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56335920	56335920	A	G	6:g.56335920A>G	-
NM_001374736.1(DST):c.22288C>T (p.Arg7430Trp)	667	DST	Uncertain significance	-1	RCV001362450;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56335937	56335937	G	A	56335937	-
NM_001374736.1(DST):c.22287G>A (p.Thr7429=)	667	DST	Likely benign	-1	RCV001460946;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56335938	56335938	C	T	56335938	-
NM_001374736.1(DST):c.22286C>T (p.Thr7429Met)	667	DST	Uncertain significance	-1	RCV001925517;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56335939	56335939	G	A	56335939	-
NM_001374736.1(DST):c.22251C>T (p.Phe7417=)	667	DST	Likely benign	-1	RCV001446879;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56335974	56335974	G	A	56335974	-
NM_001374736.1(DST):c.22248C>T (p.Phe7416=)	667	DST	Likely benign	-1	RCV001450492;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56335977	56335977	G	A	56335977	-
NM_001374736.1(DST):c.22195C>T (p.Arg7399Cys)	667	DST	Likely benign	-1	RCV001408343;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56336030	56336030	G	A	56336030	-
NM_001374736.1(DST):c.22171G>A (p.Ala7391Thr)	667	DST	Uncertain significance	rs772254325	RCV001307541;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56336054	56336054	C	T	56336054	-
NM_001374736.1(DST):c.22171G>T (p.Ala7391Ser)	667	DST	Uncertain significance	-1	RCV001373630;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56336054	56336054	C	A	56336054	-
NM_001374736.1(DST):c.22164G>T (p.Arg7388Ser)	667	DST	Uncertain significance	-1	RCV001950706;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56336061	56336061	C	A	56336061	-
NM_001374736.1(DST):c.22134T>C (p.Asn7378=)	667	DST	Likely benign	-1	RCV001432895;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56336881	56336881	A	G	56336881	-
NM_001374736.1(DST):c.22133A>G (p.Asn7378Ser)	667	DST	Uncertain significance	rs763569325	RCV001248119;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56336882	56336882	T	C	6:g.56336882T>C	-
NM_001374736.1(DST):c.22131C>T (p.Leu7377=)	667	DST	Likely benign	-1	RCV002131010;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56336884	56336884	G	A	56336884	-
NM_001374736.1(DST):c.22121G>A (p.Arg7374Lys)	667	DST	Uncertain significance	rs2094926732	RCV001240992;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56336894	56336894	C	T	6:g.56336894C>T	-
NM_001374736.1(DST):c.22119A>G (p.Arg7373=)	667	DST	Benign	rs192453671	RCV000979598;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56336896	56336896	T	C	6:g.56336896T>C	-
NM_001374736.1(DST):c.22110G>A (p.Ala7370=)	667	DST	Likely benign	-1	RCV002127064;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56336905	56336905	C	T	56336905	-
NM_001374736.1(DST):c.22069A>G (p.Asn7357Asp)	667	DST	Uncertain significance	rs2094927912	RCV001323012;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56336946	56336946	T	C	56336946	-
NM_001374736.1(DST):c.22057A>G (p.Asn7353Asp)	667	DST	Uncertain significance	rs371310558	RCV001242501;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56336958	56336958	T	C	6:g.56336958T>C	-
NM_001374736.1(DST):c.22016G>C (p.Ser7339Thr)	667	DST	Uncertain significance	-1	RCV002039786;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56336999	56336999	C	G	56336999	-
NM_001374736.1(DST):c.22005_22006insAT (p.Pro7336fs)	667	DST	Pathogenic	rs2094929531	RCV001245997;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56337009	56337010	G	GAT	6:g.56337009_56337010insAT	-
NM_001374736.1(DST):c.22000C>T (p.Arg7334Cys)	667	DST	Uncertain significance	rs769938845	RCV001248117;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56337015	56337015	G	A	6:g.56337015G>A	-
NM_001374736.1(DST):c.21999A>C (p.Lys7333Asn)	667	DST	Uncertain significance	-1	RCV001973244;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56337016	56337016	T	G	56337016	-
NM_001374736.1(DST):c.21995-18G>C	667	DST	Benign	-1	RCV002118115;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56337038	56337038	C	G	56337038	-
NM_001374736.1(DST):c.21995-18G>A	667	DST	Benign	-1	RCV002122467;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56337038	56337038	C	T	56337038	-
NM_001374736.1(DST):c.21992G>A (p.Gly7331Glu)	667	DST	Uncertain significance	rs781156041	RCV001240219;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56338673	56338673	C	T	6:g.56338673C>T	-
NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter)	667	DST	Pathogenic	-1	RCV001994750;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56338680	56338680	G	A	56338680	-
NM_001374736.1(DST):c.21972C>T (p.Val7324=)	667	DST	Likely benign	-1	RCV001411957;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56338693	56338693	G	A	56338693	-
NM_001374736.1(DST):c.21955C>G (p.Gln7319Glu)	667	DST	Uncertain significance	rs749377991	RCV001239660;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56338710	56338710	G	C	6:g.56338710G>C	-
NM_001374736.1(DST):c.21951A>G (p.Ser7317=)	667	DST	Likely benign	rs1306326928	RCV000982789\|RCV001505084;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56338714	56338714	T	C	6:g.56338714T>C	-
NM_001374736.1(DST):c.21943C>T (p.Pro7315Ser)	667	DST	Uncertain significance	-1	RCV001927551;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56338722	56338722	G	A	56338722	-
NM_001374736.1(DST):c.21915G>A (p.Thr7305=)	667	DST	Likely benign	-1	RCV001487210;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56338750	56338750	C	T	56338750	-
NM_001374736.1(DST):c.21885C>T (p.Thr7295=)	667	DST	Likely benign	-1	RCV001496768;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56338780	56338780	G	A	56338780	-
NM_001374736.1(DST):c.21875A>T (p.Glu7292Val)	667	DST	Uncertain significance	-1	RCV002047870;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56338790	56338790	T	A	56338790	-
NM_001374736.1(DST):c.21865-20C>T	667	DST	Likely benign	-1	RCV002105259;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56338820	56338820	G	A	56338820	-
NM_001374736.1(DST):c.21864+13T>A	667	DST	Likely benign	-1	RCV002156608;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56340934	56340934	A	T	56340934	-
NC_000006.11:g.(?_56340937)_(56342296_?)del	667	DST	Uncertain significance	-1	RCV001916462;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56340937	56342296	na	na	-1	-
NM_001374736.1(DST):c.21864+7T>C	667	DST	Likely benign	-1	RCV001426327;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56340940	56340940	A	G	56340940	-
NM_001374736.1(DST):c.21862C>T (p.Gln7288Ter)	667	DST	Pathogenic	-1	RCV001895286;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56340949	56340949	G	A	56340949	-
NM_001374736.1(DST):c.21858A>G (p.Glu7286=)	667	DST	Likely benign	-1	RCV002213296;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56340953	56340953	T	C	56340953	-
NM_001374736.1(DST):c.21832G>A (p.Glu7278Lys)	667	DST	Uncertain significance	rs751149116	RCV001313676;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56340979	56340979	C	T	56340979	-
NM_001374736.1(DST):c.21830T>C (p.Ile7277Thr)	667	DST	Uncertain significance	-1	RCV001912413;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56340981	56340981	A	G	56340981	-
NM_001374736.1(DST):c.21824A>C (p.Gln7275Pro)	667	DST	Uncertain significance	rs2095181390	RCV001317820;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56340987	56340987	T	G	56340987	-
NM_001374736.1(DST):c.21821C>G (p.Pro7274Arg)	667	DST	Uncertain significance	rs1250221052	RCV001245433;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56340990	56340990	G	C	6:g.56340990G>C	-
NM_001374736.1(DST):c.21814G>A (p.Val7272Ile)	667	DST	Uncertain significance	rs767613702	RCV001240068;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56340997	56340997	C	T	6:g.56340997C>T	-
NM_001374736.1(DST):c.21814G>C (p.Val7272Leu)	667	DST	Uncertain significance	-1	RCV001955059;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56340997	56340997	C	G	56340997	-
NM_001374736.1(DST):c.21793C>T (p.Leu7265Phe)	667	DST	Uncertain significance	rs1757751702	RCV001345203;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56341018	56341018	G	A	56341018	-
NM_001374736.1(DST):c.21756del (p.Ala7253fs)	667	DST	Pathogenic	rs398122819	RCV000024316\|RCV001552535;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56341055	56341055	CT	C	6:g.56341055_56341055del	ClinGen:CA281107,OMIM:113810.0001	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.21733A>G (p.Ile7245Val)	667	DST	Uncertain significance	rs2095184213	RCV001245859;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56341078	56341078	T	C	6:g.56341078T>C	-
NM_001374736.1(DST):c.21724G>T (p.Ala7242Ser)	667	DST	Uncertain significance	-1	RCV001937410;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56341087	56341087	C	A	56341087	-
NM_001374736.1(DST):c.21717T>C (p.Ser7239=)	667	DST	Likely benign	-1	RCV002194344;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56341094	56341094	A	G	56341094	-
NM_001374736.1(DST):c.21689C>T (p.Ala7230Val)	667	DST	Uncertain significance	-1	RCV001363799;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56341122	56341122	G	A	56341122	-
NM_001374736.1(DST):c.21678G>A (p.Val7226=)	667	DST	Uncertain significance	-1	RCV001364675;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56341133	56341133	C	T	56341133	-
NM_001374736.1(DST):c.21676-6T>C	667	DST	Likely benign	-1	RCV002192367;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56341141	56341141	A	G	56341141	-
NM_001374736.1(DST):c.21676-9C>T	667	DST	Likely benign	-1	RCV001411469;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56341144	56341144	G	A	56341144	-
NM_001374736.1(DST):c.21676-15_21676-14del	667	DST	Benign	-1	RCV001699837\|RCV002073261;	N	MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56341149	56341150	CAG	C	56341148	-
NM_001374736.1(DST):c.21675+10T>A	667	DST	Likely benign	-1	RCV001438795;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56342133	56342133	A	T	56342133	-
NM_001374736.1(DST):c.21675+7G>A	667	DST	Benign/Likely benign	-1	RCV001514391\|RCV001732197;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56342136	56342136	C	T	56342136	-
NM_001374736.1(DST):c.21675+4A>G	667	DST	Uncertain significance	rs2095243185	RCV001243704;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342139	56342139	T	C	6:g.56342139T>C	-
NM_001374736.1(DST):c.21662C>T (p.Ala7221Val)	667	DST	Uncertain significance	rs376556021	RCV001246191;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342156	56342156	G	A	6:g.56342156G>A	-
NM_001374736.1(DST):c.21659G>A (p.Arg7220Gln)	667	DST	Uncertain significance	rs765541556	RCV001296137;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342159	56342159	C	T	56342159	-
NM_001374736.1(DST):c.21658C>T (p.Arg7220Trp)	667	DST	Uncertain significance	-1	RCV001926883;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342160	56342160	G	A	56342160	-
NM_001374736.1(DST):c.21636T>G (p.Ile7212Met)	667	DST	Uncertain significance	-1	RCV002012961;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56342182	56342182	A	C	56342182	-
NM_001374736.1(DST):c.21631A>G (p.Thr7211Ala)	667	DST	Uncertain significance	rs2095244412	RCV001247636;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342187	56342187	T	C	6:g.56342187T>C	-
NM_001374736.1(DST):c.21627C>G (p.Ile7209Met)	667	DST	Uncertain significance	rs2095244497	RCV001247775;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342191	56342191	G	C	6:g.56342191G>C	-
NM_001374736.1(DST):c.21626T>C (p.Ile7209Thr)	667	DST	Uncertain significance	-1	RCV002013253;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56342192	56342192	A	G	56342192	-
NM_001374736.1(DST):c.21618C>T (p.Pro7206=)	667	DST	Likely benign	-1	RCV001481018;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56342200	56342200	G	A	56342200	-
NM_001374736.1(DST):c.21618C>G (p.Pro7206=)	667	DST	Likely benign	-1	RCV002103249;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342200	56342200	G	C	56342200	-
NM_001374736.1(DST):c.21598G>A (p.Val7200Ile)	667	DST	Uncertain significance	rs760700573	RCV001241530;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342220	56342220	C	T	6:g.56342220C>T	-
NM_001374736.1(DST):c.21595A>G (p.Thr7199Ala)	667	DST	Uncertain significance	rs2095245434	RCV001240922;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342223	56342223	T	C	6:g.56342223T>C	-
NM_001374736.1(DST):c.21591C>T (p.Gly7197=)	667	DST	Likely benign	-1	RCV001465458;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56342227	56342227	G	A	56342227	-
NM_001374736.1(DST):c.21572A>G (p.Asn7191Ser)	667	DST	Uncertain significance	rs1310432337	RCV001308011;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56342246	56342246	T	C	56342246	-
NM_001374736.1(DST):c.21570A>G (p.Leu7190=)	667	DST	Likely benign	-1	RCV001414282;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56342248	56342248	T	C	56342248	-
NM_001374736.1(DST):c.21538A>G (p.Met7180Val)	667	DST	Likely benign	rs200006386	RCV001311719\|RCV001400269;	N	MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56342280	56342280	T	C	56342280	-
NM_001374736.1(DST):c.21531+11T>C	667	DST	Likely benign	-1	RCV002188154;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346837	56346837	A	G	56346837	-
NM_001374736.1(DST):c.21529A>G (p.Lys7177Glu)	667	DST	Uncertain significance	-1	RCV001368426;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346850	56346850	T	C	56346850	-
NM_001374736.1(DST):c.21518T>C (p.Ile7173Thr)	667	DST	Uncertain significance	-1	RCV001889366;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346861	56346861	A	G	56346861	-
NM_001374736.1(DST):c.21514C>G (p.Leu7172Val)	667	DST	Uncertain significance	rs1461679972	RCV001308419;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346865	56346865	G	C	56346865	-
NM_001374736.1(DST):c.21510G>A (p.Arg7170=)	667	DST	Likely benign	-1	RCV002210662;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346869	56346869	C	T	56346869	-
NM_001374736.1(DST):c.21509G>A (p.Arg7170Gln)	667	DST	Uncertain significance	rs201690182	RCV001243563;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346870	56346870	C	T	6:g.56346870C>T	-
NM_001374736.1(DST):c.21503C>G (p.Ala7168Gly)	667	DST	Uncertain significance	rs201982383	RCV001245367;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346876	56346876	G	C	6:g.56346876G>C	-
NM_001374736.1(DST):c.21500A>G (p.Asp7167Gly)	667	DST	Uncertain significance	rs1562272106	RCV001248734;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346879	56346879	T	C	6:g.56346879T>C	-
NM_001374736.1(DST):c.21470G>A (p.Arg7157His)	667	DST	Uncertain significance	rs576138885	RCV001244815;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346909	56346909	C	T	6:g.56346909C>T	-
NM_001374736.1(DST):c.21456G>A (p.Ala7152=)	667	DST	Likely benign	-1	RCV001483480;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346923	56346923	C	T	56346923	-
NM_001374736.1(DST):c.21455C>T (p.Ala7152Val)	667	DST	Uncertain significance	-1	RCV001373385;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346924	56346924	G	A	56346924	-
NM_001374736.1(DST):c.21448G>T (p.Ala7150Ser)	667	DST	Uncertain significance	rs1393774391	RCV000821659;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346931	56346931	C	A	6:g.56346931C>A	-
NM_001374736.1(DST):c.21423G>A (p.Val7141=)	667	DST	Benign	rs201115435	RCV000979040;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346956	56346956	C	T	6:g.56346956C>T	-
NM_001374736.1(DST):c.21421G>T (p.Val7141Leu)	667	DST	Uncertain significance	-1	RCV001887612;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346958	56346958	C	A	56346958	-
NM_001374736.1(DST):c.21420G>A (p.Ser7140=)	667	DST	Likely benign	-1	RCV001436430;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346959	56346959	C	T	56346959	-
NM_001374736.1(DST):c.21419C>T (p.Ser7140Leu)	667	DST	Uncertain significance	-1	RCV001364018;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346960	56346960	G	A	56346960	-
NM_001374736.1(DST):c.21408G>C (p.Glu7136Asp)	667	DST	Uncertain significance	-1	RCV001935037;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346971	56346971	C	G	56346971	-
NM_001374736.1(DST):c.21403-23TG[8]	667	DST	Likely benign	rs144810945	RCV000980184\|RCV001700683;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56346985	56346986	T	TCA	6:g.56346985_56346986insCA	-
NM_001374736.1(DST):c.21403-23TG[17]	667	DST	Likely benign	-1	RCV001423009;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346985	56346986	T	TCACACACACACACACACACA	56346985	-
NM_001374736.1(DST):c.21403-23TG[16]	667	DST	Likely benign	-1	RCV001463627;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346985	56346986	T	TCACACACACACACACACA	56346985	-
NM_001374736.1(DST):c.21403-23TG[20]	667	DST	Likely benign	-1	RCV001472929;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346985	56346986	T	TCACACACACACACACACACACACACA	56346985	-
NM_001374736.1(DST):c.21403-23TG[21]	667	DST	Likely benign	-1	RCV001501064;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346985	56346986	T	TCACACACACACACACACACACACACACA	56346985	-
NM_001374736.1(DST):c.21403-23TG[18]	667	DST	Benign	-1	RCV001514455;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56346985	56346986	T	TCACACACACACACACACACACA	56346985	-
NM_001374736.1(DST):c.21403-23TG[19]	667	DST	Benign/Likely benign	-1	RCV001510455\|RCV001732193;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56346985	56346986	T	TCACACACACACACACACACACACA	56346985	-
NM_001374736.1(DST):c.21403-23TG[6]	667	DST	Benign	-1	RCV002122650;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56346986	56346987	TCA	T	56346985	-
NM_001374736.1(DST):c.21402+12G>C	667	DST	Likely benign	-1	RCV002208324;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56347469	56347469	C	G	56347469	-
NM_001374736.1(DST):c.21398G>A (p.Arg7133His)	667	DST	Uncertain significance	-1	RCV002004605;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347485	56347485	C	T	56347485	-
NM_001374736.1(DST):c.21397C>T (p.Arg7133Cys)	667	DST	Uncertain significance	rs1465520965	RCV001247972;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347486	56347486	G	A	6:g.56347486G>A	-
NM_001374736.1(DST):c.21379C>T (p.Arg7127Trp)	667	DST	Uncertain significance	-1	RCV001365517;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56347504	56347504	G	A	56347504	-
NM_001374736.1(DST):c.21364A>G (p.Ile7122Val)	667	DST	Uncertain significance	rs201703299	RCV001243168;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347519	56347519	T	C	6:g.56347519T>C	-
NM_001374736.1(DST):c.21349G>A (p.Val7117Met)	667	DST	Uncertain significance	-1	RCV001951970;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347534	56347534	C	T	56347534	-
NM_001374736.1(DST):c.21348C>T (p.Thr7116=)	667	DST	Likely benign	-1	RCV001410053;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56347535	56347535	G	A	56347535	-
NM_001374736.1(DST):c.21347C>G (p.Thr7116Ser)	667	DST	Uncertain significance	-1	RCV001929298;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347536	56347536	G	C	56347536	-
NM_001374736.1(DST):c.21338G>A (p.Arg7113His)	667	DST	Uncertain significance	-1	RCV001992873;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347545	56347545	C	T	56347545	-
NM_001374736.1(DST):c.21337C>T (p.Arg7113Cys)	667	DST	Uncertain significance	-1	RCV001987865;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347546	56347546	G	A	56347546	-
NM_001374736.1(DST):c.21327A>G (p.Glu7109=)	667	DST	Likely benign	-1	RCV002213438;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56347556	56347556	T	C	56347556	-
NM_001374736.1(DST):c.21324G>A (p.Gln7108=)	667	DST	Likely benign	-1	RCV001459647;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56347559	56347559	C	T	56347559	-
NM_001374736.1(DST):c.21310A>G (p.Lys7104Glu)	667	DST	Uncertain significance	-1	RCV002006414;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56347573	56347573	T	C	56347573	-
NM_001374736.1(DST):c.21290G>A (p.Arg7097Gln)	667	DST	Uncertain significance	rs372651269	RCV001243633;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347593	56347593	C	T	6:g.56347593C>T	-
NM_001374736.1(DST):c.21289C>T (p.Arg7097Trp)	667	DST	Uncertain significance	rs752231990	RCV001343637\|RCV001507669;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56347594	56347594	G	A	56347594	-
NM_001374736.1(DST):c.21288T>A (p.Ser7096Arg)	667	DST	Uncertain significance	rs2095442394	RCV001244752;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347595	56347595	A	T	6:g.56347595A>T	-
NM_001374736.1(DST):c.21269G>A (p.Arg7090Gln)	667	DST	Uncertain significance	-1	RCV001954811;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347614	56347614	C	T	56347614	-
NM_001374736.1(DST):c.21268C>G (p.Arg7090Gly)	667	DST	Uncertain significance	rs753400637	RCV001239859;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56347615	56347615	G	C	6:g.56347615G>C	-
NM_001374736.1(DST):c.21260G>A (p.Arg7087His)	667	DST	Uncertain significance	rs199548754	RCV001240341;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56347623	56347623	C	T	6:g.56347623C>T	-
NM_001374736.1(DST):c.21259C>T (p.Arg7087Cys)	667	DST	Uncertain significance	-1	RCV001945695;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347624	56347624	G	A	56347624	-
NM_001374736.1(DST):c.21243T>A (p.Ser7081Arg)	667	DST	Uncertain significance	rs779915352	RCV001241868;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347640	56347640	A	T	6:g.56347640A>T	-
NM_001374736.1(DST):c.21243T>C (p.Ser7081=)	667	DST	Likely benign	-1	RCV002152383;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347640	56347640	A	G	56347640	-
NM_001374736.1(DST):c.21237C>T (p.Thr7079=)	667	DST	Likely benign	-1	RCV001437334;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347646	56347646	G	A	56347646	-
NM_001374736.1(DST):c.21234G>A (p.Arg7078=)	667	DST	Likely benign	-1	RCV002146162;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347649	56347649	C	T	56347649	-
NM_001374736.1(DST):c.21231G>A (p.Lys7077=)	667	DST	Likely benign	-1	RCV001422117;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56347652	56347652	C	T	56347652	-
NM_001374736.1(DST):c.21208-2A>T	667	DST	Likely pathogenic	-1	RCV001961435;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56347677	56347677	T	A	56347677	-
NM_001374736.1(DST):c.21204C>T (p.His7068=)	667	DST	Likely benign	-1	RCV001481202;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56350113	56350113	G	A	56350113	-
NM_001374736.1(DST):c.21195C>A (p.Ile7065=)	667	DST	Uncertain significance	rs759930255	RCV001338339;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56350122	56350122	G	T	56350122	-
NM_001374736.1(DST):c.21187A>G (p.Asn7063Asp)	667	DST	Uncertain significance	rs2095526396	RCV001245996;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56350130	56350130	T	C	6:g.56350130T>C	-
NM_001374736.1(DST):c.21183G>T (p.Val7061=)	667	DST	Likely benign	-1	RCV001480716;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56350134	56350134	C	A	56350134	-
NM_001374736.1(DST):c.21181G>A (p.Val7061Met)	667	DST	Uncertain significance	rs1308825083	RCV001247057;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56350136	56350136	C	T	6:g.56350136C>T	-
NM_001374736.1(DST):c.21178T>C (p.Leu7060=)	667	DST	Likely benign	-1	RCV001405655;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56350139	56350139	A	G	56350139	-
NM_001374736.1(DST):c.21153C>A (p.Asp7051Glu)	667	DST	Uncertain significance	-1	RCV001368160;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56350164	56350164	G	T	56350164	-
NM_001374736.1(DST):c.21141G>A (p.Gln7047=)	667	DST	Likely benign	-1	RCV001477870;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56350176	56350176	C	T	56350176	-
NM_001374736.1(DST):c.21102A>G (p.Leu7034=)	667	DST	Likely benign	-1	RCV002113015;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56350215	56350215	T	C	56350215	-
NM_001374736.1(DST):c.21100C>T (p.Leu7034=)	667	DST	Likely benign	-1	RCV001441376;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56350217	56350217	G	A	56350217	-
NM_001374736.1(DST):c.21048-1G>T	667	DST	Likely pathogenic	-1	RCV001378330;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56350270	56350270	C	A	56350270	-
NM_001374736.1(DST):c.21048-4C>G	667	DST	Likely benign	-1	RCV001467673;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56350273	56350273	G	C	56350273	-
NM_001374736.1(DST):c.21048-5C>T	667	DST	Likely benign	-1	RCV001483481;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56350274	56350274	G	A	56350274	-
NM_001374736.1(DST):c.21047+9T>A	667	DST	Likely benign	-1	RCV001393798;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56351893	56351893	A	T	56351893	-
NM_001374736.1(DST):c.21015A>G (p.Lys7005=)	667	DST	Uncertain significance	-1	RCV002030168;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56351934	56351934	T	C	56351934	-
NM_001374736.1(DST):c.21011A>C (p.Asp7004Ala)	667	DST	Uncertain significance	-1	RCV001914180;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56351938	56351938	T	G	56351938	-
NM_001374736.1(DST):c.21001G>C (p.Glu7001Gln)	667	DST	Uncertain significance	rs555055845	RCV001248591;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56351948	56351948	C	G	6:g.56351948C>G	-
NM_001374736.1(DST):c.20997G>A (p.Leu6999=)	667	DST	Benign/Likely benign	rs187652380	RCV000625437\|RCV000979000\|RCV001701418\|RCV001785683;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN169374\|MedGen:CN517202	6	56351952	56351952	C	T	6:g.56351952C>T	ClinGen:CA3866608	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.20993T>C (p.Met6998Thr)	667	DST	Uncertain significance	-1	RCV002021843;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56351956	56351956	A	G	56351956	-
NM_001374736.1(DST):c.20988T>A (p.Asp6996Glu)	667	DST	Uncertain significance	-1	RCV001912301;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56351961	56351961	A	T	56351961	-
NM_001374736.1(DST):c.20981A>G (p.Lys6994Arg)	667	DST	Uncertain significance	rs747140695	RCV001243634;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56351968	56351968	T	C	6:g.56351968T>C	-
NM_001374736.1(DST):c.20977C>G (p.Leu6993Val)	667	DST	Benign	-1	RCV001517025\|RCV001685392;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56351972	56351972	G	C	56351972	-
NM_001374736.1(DST):c.20976C>T (p.Asn6992=)	667	DST	Benign/Likely benign	rs199658821	RCV000979024\|RCV001311720;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56351973	56351973	G	A	6:g.56351973G>A	-
NM_001374736.1(DST):c.20976C>A (p.Asn6992Lys)	667	DST	Uncertain significance	-1	RCV001867749;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56351973	56351973	G	T	56351973	-
NM_001374736.1(DST):c.20975A>G (p.Asn6992Ser)	667	DST	Uncertain significance	rs780386919	RCV000805306;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56351974	56351974	T	C	6:g.56351974T>C	-
NM_001374736.1(DST):c.20971G>A (p.Asp6991Asn)	667	DST	Uncertain significance	-1	RCV002031854;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56351978	56351978	C	T	56351978	-
NM_001374736.1(DST):c.20969A>C (p.Asp6990Ala)	667	DST	Uncertain significance	rs2095597405	RCV001246857;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56351980	56351980	T	G	6:g.56351980T>G	-
NM_001374736.1(DST):c.20963T>G (p.Leu6988Arg)	667	DST	Uncertain significance	rs769301413	RCV001244614;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56351986	56351986	A	C	6:g.56351986A>C	-
NM_001374736.1(DST):c.20937A>G (p.Gly6979=)	667	DST	Likely benign	-1	RCV002093319;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56352012	56352012	T	C	56352012	-
NM_001374736.1(DST):c.20924C>T (p.Thr6975Ile)	667	DST	Uncertain significance	rs775114465	RCV001244613;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56352025	56352025	G	A	6:g.56352025G>A	-
NM_001374736.1(DST):c.20923A>G (p.Thr6975Ala)	667	DST	Uncertain significance	rs2095598634	RCV001343514;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56352026	56352026	T	C	56352026	-
NM_001374736.1(DST):c.20904G>T (p.Lys6968Asn)	667	DST	Uncertain significance	rs373333745	RCV001244417;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56352045	56352045	C	A	6:g.56352045C>A	-
NM_001374736.1(DST):c.20895C>T (p.Leu6965=)	667	DST	Likely benign	-1	RCV001506338;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56352054	56352054	G	A	56352054	-
NM_001374736.1(DST):c.20878-3T>C	667	DST	Uncertain significance	rs961527038	RCV001245720;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56352074	56352074	A	G	6:g.56352074A>G	-
NM_001374736.1(DST):c.20878-8dup	667	DST	Uncertain significance	-1	RCV001954870;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56352078	56352079	A	AT	56352078	-
NM_001374736.1(DST):c.20871A>G (p.Gln6957=)	667	DST	Benign	rs572477548	RCV000982023;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56354294	56354294	T	C	6:g.56354294T>C	-
NM_001374736.1(DST):c.20847C>T (p.Asp6949=)	667	DST	Likely benign	-1	RCV001492091;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56354318	56354318	G	A	56354318	-
NM_001374736.1(DST):c.20836A>T (p.Asn6946Tyr)	667	DST	Uncertain significance	rs910349740	RCV001241253;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56354329	56354329	T	A	6:g.56354329T>A	-
NM_001374736.1(DST):c.20834C>T (p.Ala6945Val)	667	DST	Uncertain significance	rs2095669121	RCV001241452;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56354331	56354331	G	A	6:g.56354331G>A	-
NM_001374736.1(DST):c.20825T>C (p.Leu6942Pro)	667	DST	Uncertain significance	-1	RCV001875676;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56354340	56354340	A	G	56354340	-
NM_001374736.1(DST):c.20783T>C (p.Met6928Thr)	667	DST	Uncertain significance	rs763176568	RCV001243096;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56354382	56354382	A	G	6:g.56354382A>G	-
NM_001374736.1(DST):c.20783T>A (p.Met6928Lys)	667	DST	Uncertain significance	-1	RCV001939862;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56354382	56354382	A	T	56354382	-
NM_001374736.1(DST):c.20767G>A (p.Ala6923Thr)	667	DST	Uncertain significance	rs767948298	RCV001319143;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56354398	56354398	C	T	56354398	-
NM_001374736.1(DST):c.20762A>G (p.His6921Arg)	667	DST	Uncertain significance	-1	RCV002016536;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56354403	56354403	T	C	56354403	-
NM_001374736.1(DST):c.20761C>T (p.His6921Tyr)	667	DST	Uncertain significance	rs2095670422	RCV001309635;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56354404	56354404	G	A	56354404	-
NM_001374736.1(DST):c.20760C>G (p.Phe6920Leu)	667	DST	Uncertain significance	rs374056754	RCV001242693;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56354405	56354405	G	C	6:g.56354405G>C	-
NM_001374736.1(DST):c.20757+1G>A	667	DST	Likely pathogenic	-1	RCV001379738;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357024	56357024	C	T	56357024	-
NM_001374736.1(DST):c.20756A>G (p.Gln6919Arg)	667	DST	Uncertain significance	rs771106035	RCV001243095;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357026	56357026	T	C	6:g.56357026T>C	-
NM_001374736.1(DST):c.20726C>A (p.Ser6909Tyr)	667	DST	Uncertain significance	rs371015718	RCV001339296;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357056	56357056	G	T	56357056	-
NM_001374736.1(DST):c.20722A>G (p.Arg6908Gly)	667	DST	Uncertain significance	-1	RCV002039021;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357060	56357060	T	C	56357060	-
NM_001374736.1(DST):c.20718A>T (p.Arg6906Ser)	667	DST	Uncertain significance	rs936474152	RCV000795797;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357064	56357064	T	A	6:g.56357064T>A	-
NM_001374736.1(DST):c.20709G>A (p.Leu6903=)	667	DST	Uncertain significance	rs764552655	RCV001308244;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357073	56357073	C	T	56357073	-
NM_001374736.1(DST):c.20705G>A (p.Arg6902Gln)	667	DST	Uncertain significance	rs754316339	RCV001246800;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357077	56357077	C	T	6:g.56357077C>T	-
NM_001374736.1(DST):c.20698G>T (p.Val6900Phe)	667	DST	Uncertain significance	-1	RCV001924222;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357084	56357084	C	A	56357084	-
NM_001374736.1(DST):c.20684G>T (p.Arg6895Leu)	667	DST	Uncertain significance	rs371273718	RCV001339277;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357098	56357098	C	A	56357098	-
NM_001374736.1(DST):c.20684G>A (p.Arg6895Gln)	667	DST	Uncertain significance	rs371273718	RCV001341014;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357098	56357098	C	T	56357098	-
NM_001374736.1(DST):c.20659A>G (p.Asn6887Asp)	667	DST	Uncertain significance	rs2095777312	RCV001241251;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357123	56357123	T	C	6:g.56357123T>C	-
NM_001374736.1(DST):c.20612C>T (p.Thr6871Ile)	667	DST	Uncertain significance	rs2095778341	RCV001240343;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357170	56357170	G	A	6:g.56357170G>A	-
NM_001374736.1(DST):c.20606C>T (p.Thr6869Ile)	667	DST	Uncertain significance	-1	RCV001982684;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357176	56357176	G	A	56357176	-
NM_001374736.1(DST):c.20596C>T (p.Leu6866=)	667	DST	Likely benign	-1	RCV002177565;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357186	56357186	G	A	56357186	-
NM_001374736.1(DST):c.20593G>C (p.Glu6865Gln)	667	DST	Uncertain significance	-1	RCV002004002;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357189	56357189	C	G	56357189	-
NM_001374736.1(DST):c.20578C>T (p.Arg6860Cys)	667	DST	Uncertain significance	rs769340564	RCV000823541;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357204	56357204	G	A	6:g.56357204G>A	-
NM_001374736.1(DST):c.20561A>G (p.Asn6854Ser)	667	DST	Uncertain significance	rs372049401	RCV000797123;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357221	56357221	T	C	6:g.56357221T>C	-
NM_001374736.1(DST):c.20560A>C (p.Asn6854His)	667	DST	Uncertain significance	-1	RCV001365519;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357222	56357222	T	G	56357222	-
NM_001374736.1(DST):c.20559C>T (p.Ala6853=)	667	DST	Likely benign	-1	RCV001417742;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357223	56357223	G	A	56357223	-
NM_001374736.1(DST):c.20551G>A (p.Val6851Ile)	667	DST	Uncertain significance	-1	RCV002035754;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357231	56357231	C	T	56357231	-
NM_001374736.1(DST):c.20551-3A>C	667	DST	Uncertain significance	rs1192992788	RCV001071469;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357234	56357234	T	G	6:g.56357234T>G	-
NM_001374736.1(DST):c.20551-16dup	667	DST	Benign	-1	RCV001510721;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357240	56357241	G	GA	56357240	-
NM_001374736.1(DST):c.20551-10T>C	667	DST	Benign	rs191932729	RCV000979023;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357241	56357241	A	G	6:g.56357241A>G	-
NM_001374736.1(DST):c.20551-10del	667	DST	Benign	-1	RCV001514673;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357241	56357241	GA	G	56357240	-
NM_001374736.1(DST):c.20548A>G (p.Lys6850Glu)	667	DST	Uncertain significance	-1	RCV001987538;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357734	56357734	T	C	56357734	-
NM_001374736.1(DST):c.20542G>A (p.Glu6848Lys)	667	DST	Uncertain significance	rs201305293	RCV001245090;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357740	56357740	C	T	6:g.56357740C>T	-
NM_001374736.1(DST):c.20541C>T (p.Asp6847=)	667	DST	Benign	-1	RCV001514393;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357741	56357741	G	A	56357741	-
NM_001374736.1(DST):c.20537T>C (p.Ile6846Thr)	667	DST	Uncertain significance	rs762395369	RCV001350784;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357745	56357745	A	G	56357745	-
NM_001374736.1(DST):c.20524G>C (p.Val6842Leu)	667	DST	Uncertain significance	-1	RCV001962445;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357758	56357758	C	G	56357758	-
NM_001374736.1(DST):c.20511C>G (p.Leu6837=)	667	DST	Likely benign	-1	RCV001485923;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357771	56357771	G	C	56357771	-
NM_001374736.1(DST):c.20500C>T (p.Arg6834Trp)	667	DST	Uncertain significance	-1	RCV002002668;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357782	56357782	G	A	56357782	-
NM_001374736.1(DST):c.20482A>G (p.Thr6828Ala)	667	DST	Uncertain significance	-1	RCV002023629;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357800	56357800	T	C	56357800	-
NM_001374736.1(DST):c.20451C>T (p.Asp6817=)	667	DST	Likely benign	-1	RCV001470824;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357831	56357831	G	A	56357831	-
NM_001374736.1(DST):c.20446C>T (p.Gln6816Ter)	667	DST	Pathogenic	rs2095802050	RCV001244420;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357836	56357836	G	A	6:g.56357836G>A	-
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)	667	DST	Conflicting interpretations of pathogenicity	rs199628430	RCV000625438\|RCV000801103\|RCV001529345;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56357844	56357844	T	C	NC_000006.11:g.56357844T>C	ClinGen:CA3866746	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.20426T>C (p.Met6809Thr)	667	DST	Uncertain significance	rs781336562	RCV001242888;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357856	56357856	A	G	6:g.56357856A>G	-
NM_001374736.1(DST):c.20412T>C (p.Ala6804=)	667	DST	Likely benign	-1	RCV001400710;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56357870	56357870	A	G	56357870	-
NM_001374736.1(DST):c.20398A>G (p.Lys6800Glu)	667	DST	Uncertain significance	-1	RCV001929219;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56357884	56357884	T	C	56357884	-
NM_001374736.1(DST):c.20394+20_20394+24del	667	DST	Uncertain significance	-1	RCV002033147;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56358784	56358788	CTATTA	C	56358783	-
NM_001374736.1(DST):c.20394+19A>G	667	DST	Likely benign	-1	RCV002076048;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358789	56358789	T	C	56358789	-
NM_001374736.1(DST):c.20394+14T>C	667	DST	Likely benign	-1	RCV002156137;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56358794	56358794	A	G	56358794	-
NM_001374736.1(DST):c.20392A>G (p.Lys6798Glu)	667	DST	Uncertain significance	rs560268832	RCV001247834;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358810	56358810	T	C	6:g.56358810T>C	-
NM_001374736.1(DST):c.20384A>G (p.Asn6795Ser)	667	DST	Uncertain significance	-1	RCV001952301;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358818	56358818	T	C	56358818	-
NM_001374736.1(DST):c.20382C>G (p.Leu6794=)	667	DST	Likely benign	-1	RCV002194382;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358820	56358820	G	C	56358820	-
NM_001374736.1(DST):c.20367G>A (p.Ser6789=)	667	DST	Likely benign	-1	RCV001431539;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358835	56358835	C	T	56358835	-
NM_001374736.1(DST):c.20366C>T (p.Ser6789Leu)	667	DST	Uncertain significance	-1	RCV001894890;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56358836	56358836	G	A	56358836	-
NM_001374736.1(DST):c.20346C>T (p.Asn6782=)	667	DST	Benign	rs200110251	RCV000980179;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56358856	56358856	G	A	6:g.56358856G>A	-
NM_001374736.1(DST):c.20345A>C (p.Asn6782Thr)	667	DST	Uncertain significance	rs764679996	RCV001241065;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358857	56358857	T	G	6:g.56358857T>G	-
NM_001374736.1(DST):c.20317G>A (p.Glu6773Lys)	667	DST	Uncertain significance	-1	RCV001978826;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358885	56358885	C	T	56358885	-
NM_001374736.1(DST):c.20303G>T (p.Cys6768Phe)	667	DST	Uncertain significance	rs2095837433	RCV001244543;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358899	56358899	C	A	6:g.56358899C>A	-
NM_001374736.1(DST):c.20283C>G (p.Gly6761=)	667	DST	Likely benign	-1	RCV001468551;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56358919	56358919	G	C	56358919	-
NM_001374736.1(DST):c.20282G>A (p.Gly6761Asp)	667	DST	Uncertain significance	rs746273825	RCV001294789;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358920	56358920	C	T	56358920	-
NM_001374736.1(DST):c.20273T>C (p.Met6758Thr)	667	DST	Uncertain significance	-1	RCV001363262;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358929	56358929	A	G	56358929	-
NM_001374736.1(DST):c.20271G>A (p.Leu6757=)	667	DST	Likely benign	-1	RCV002181967;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358931	56358931	C	T	56358931	-
NM_001374736.1(DST):c.20265G>A (p.Lys6755=)	667	DST	Likely benign	-1	RCV002153089;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56358937	56358937	C	T	56358937	-
NM_001374736.1(DST):c.20254G>T (p.Glu6752Ter)	667	DST	Pathogenic	-1	RCV002000032;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56358948	56358948	C	A	56358948	-
NM_001374736.1(DST):c.20224-15G>A	667	DST	Likely benign	-1	RCV002116944;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56358993	56358993	C	T	56358993	-
NM_001374736.1(DST):c.20223+20C>G	667	DST	Likely benign	-1	RCV002124390;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362157	56362157	G	C	56362157	-
NM_001374736.1(DST):c.20223+7_20223+8dup	667	DST	Likely benign	-1	RCV001406540;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362167	56362168	C	CTT	56362167	-
NM_001374736.1(DST):c.20213A>C (p.Asn6738Thr)	667	DST	Uncertain significance	rs368434678	RCV001345882;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362187	56362187	T	G	56362187	-
NM_001374736.1(DST):c.20209C>G (p.Leu6737Val)	667	DST	Uncertain significance	-1	RCV002044247;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362191	56362191	G	C	56362191	-
NM_001374736.1(DST):c.20203G>A (p.Glu6735Lys)	667	DST	Uncertain significance	-1	RCV001989329;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362197	56362197	C	T	56362197	-
NM_001374736.1(DST):c.20201A>T (p.Lys6734Met)	667	DST	Uncertain significance	rs2095955225	RCV001242821;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362199	56362199	T	A	6:g.56362199T>A	-
NM_001374736.1(DST):c.20190G>A (p.Pro6730=)	667	DST	Likely benign	-1	RCV002152855;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362210	56362210	C	T	56362210	-
NM_001374736.1(DST):c.20189C>T (p.Pro6730Leu)	667	DST	Uncertain significance	-1	RCV001991114;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362211	56362211	G	A	56362211	-
NM_001374736.1(DST):c.20175G>A (p.Pro6725=)	667	DST	Likely benign	-1	RCV001447123;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362225	56362225	C	T	56362225	-
NM_001374736.1(DST):c.20174C>T (p.Pro6725Leu)	667	DST	Uncertain significance	rs372733281	RCV001327019;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362226	56362226	G	A	56362226	-
NM_001374736.1(DST):c.20153G>A (p.Arg6718His)	667	DST	Benign	-1	RCV001514459;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362247	56362247	C	T	56362247	-
NM_001374736.1(DST):c.20148G>A (p.Thr6716=)	667	DST	Likely benign	-1	RCV002144262;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362252	56362252	C	T	56362252	-
NM_001374736.1(DST):c.20147C>T (p.Thr6716Met)	667	DST	Uncertain significance	-1	RCV001984648;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362253	56362253	G	A	56362253	-
NM_001374736.1(DST):c.20119G>C (p.Glu6707Gln)	667	DST	Uncertain significance	rs944605347	RCV000800694;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362281	56362281	C	G	6:g.56362281C>G	-
NM_001374736.1(DST):c.20113G>A (p.Glu6705Lys)	667	DST	Uncertain significance	rs376734906	RCV001242892;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362287	56362287	C	T	6:g.56362287C>T	-
NM_001374736.1(DST):c.20109T>C (p.His6703=)	667	DST	Likely benign	-1	RCV002197607;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362291	56362291	A	G	56362291	-
NM_001374736.1(DST):c.20107C>T (p.His6703Tyr)	667	DST	Uncertain significance	rs1464061736	RCV001343161;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362293	56362293	G	A	56362293	-
NM_001374736.1(DST):c.20106C>T (p.Phe6702=)	667	DST	Likely benign	-1	RCV002156126;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362294	56362294	G	A	56362294	-
NM_001374736.1(DST):c.20097C>T (p.Ala6699=)	667	DST	Benign	-1	RCV001517143;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362303	56362303	G	A	56362303	-
NM_001374736.1(DST):c.20095-18_20095-2dup	667	DST	Uncertain significance	-1	RCV001955090;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362306	56362307	C	CTGAAGTAATAGGCAGTT	56362306	-
NM_001374736.1(DST):c.20095-5T>A	667	DST	Uncertain significance	rs1259182802	RCV001306402;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362310	56362310	A	T	56362310	-
NM_001374736.1(DST):c.20095-12C>T	667	DST	Likely benign	-1	RCV002083970;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362317	56362317	G	A	56362317	-
NM_001374736.1(DST):c.20094+11G>A	667	DST	Likely benign	-1	RCV002215166;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362643	56362643	C	T	56362643	-
NM_001374736.1(DST):c.20094G>C (p.Gln6698His)	667	DST	Uncertain significance	rs2095975052	RCV001245232;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362654	56362654	C	G	6:g.56362654C>G	-
NM_001374736.1(DST):c.20090G>A (p.Arg6697His)	667	DST	Uncertain significance	-1	RCV001872438;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362658	56362658	C	T	56362658	-
NM_001374736.1(DST):c.20083G>A (p.Ala6695Thr)	667	DST	Uncertain significance	-1	RCV001991296;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362665	56362665	C	T	56362665	-
NM_001374736.1(DST):c.20064G>A (p.Arg6688=)	667	DST	Likely benign	-1	RCV001429735;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362684	56362684	C	T	56362684	-
NM_001374736.1(DST):c.20053dup (p.Thr6685fs)	667	DST	Pathogenic	rs2095976276	RCV001241388;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362694	56362695	G	GT	6:g.56362694_56362695insT	-
NM_001374736.1(DST):c.20049A>G (p.Glu6683=)	667	DST	Likely benign	-1	RCV001467672;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362699	56362699	T	C	56362699	-
NM_001374736.1(DST):c.20030G>A (p.Arg6677His)	667	DST	Uncertain significance	rs748356651	RCV001239302;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362718	56362718	C	T	6:g.56362718C>T	-
NM_001374736.1(DST):c.20029C>T (p.Arg6677Cys)	667	DST	Uncertain significance	rs367862312	RCV001246065;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362719	56362719	G	A	6:g.56362719G>A	-
NM_001374736.1(DST):c.20026C>A (p.Gln6676Lys)	667	DST	Uncertain significance	-1	RCV001363708;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362722	56362722	G	T	56362722	-
NM_001374736.1(DST):c.20024A>G (p.Asn6675Ser)	667	DST	Uncertain significance	rs1282843908	RCV001243636;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362724	56362724	T	C	6:g.56362724T>C	-
NM_001374736.1(DST):c.20003A>G (p.Gln6668Arg)	667	DST	Uncertain significance	-1	RCV001961409;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362745	56362745	T	C	56362745	-
NM_001374736.1(DST):c.19984G>A (p.Glu6662Lys)	667	DST	Uncertain significance	-1	RCV002030811;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362764	56362764	C	T	56362764	-
NM_001374736.1(DST):c.19978G>T (p.Ala6660Ser)	667	DST	Uncertain significance	-1	RCV001363873;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362770	56362770	C	A	56362770	-
NM_001374736.1(DST):c.19967T>C (p.Ile6656Thr)	667	DST	Uncertain significance	-1	RCV001918302;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362781	56362781	A	G	56362781	-
NM_001374736.1(DST):c.19942G>A (p.Val6648Ile)	667	DST	Uncertain significance	rs754970520	RCV001345407;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362806	56362806	C	T	56362806	-
NM_001374736.1(DST):c.19941C>T (p.Ala6647=)	667	DST	Likely benign	-1	RCV001450812;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362807	56362807	G	A	56362807	-
NM_001374736.1(DST):c.19941C>A (p.Ala6647=)	667	DST	Likely benign	-1	RCV002088447;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56362807	56362807	G	T	56362807	-
NM_001374736.1(DST):c.19914A>G (p.Val6638=)	667	DST	Benign	-1	RCV001517083;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362834	56362834	T	C	56362834	-
NM_001374736.1(DST):c.19902C>T (p.Leu6634=)	667	DST	Likely benign	-1	RCV002202918;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56362846	56362846	G	A	56362846	-
NM_001374736.1(DST):c.19896+9C>T	667	DST	Likely benign	-1	RCV002123919;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56365869	56365869	G	A	56365869	-
NM_001374736.1(DST):c.19896+4C>T	667	DST	Uncertain significance	rs368685568	RCV001309254;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56365874	56365874	G	A	56365874	-
NM_001374736.1(DST):c.19893T>C (p.His6631=)	667	DST	Likely benign	-1	RCV001461935;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56365881	56365881	A	G	56365881	-
NM_001374736.1(DST):c.19858G>A (p.Asp6620Asn)	667	DST	Uncertain significance	rs2096107643	RCV001243164;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56365916	56365916	C	T	6:g.56365916C>T	-
NM_001374736.1(DST):c.19842G>T (p.Gln6614His)	667	DST	Uncertain significance	rs376562335	RCV001241127;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56365932	56365932	C	A	6:g.56365932C>A	-
NM_001374736.1(DST):c.19822G>A (p.Glu6608Lys)	667	DST	Uncertain significance	rs752623511	RCV001245369;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56365952	56365952	C	T	6:g.56365952C>T	-
NM_001374736.1(DST):c.19821C>T (p.Thr6607=)	667	DST	Likely benign	-1	RCV001409233;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56365953	56365953	G	A	56365953	-
NM_001374736.1(DST):c.19821C>G (p.Thr6607=)	667	DST	Likely benign	-1	RCV001435078;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56365953	56365953	G	C	56365953	-
NM_001374736.1(DST):c.19820C>G (p.Thr6607Ser)	667	DST	Uncertain significance	rs911141337	RCV001326128;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56365954	56365954	G	C	56365954	-
NM_001374736.1(DST):c.19815A>G (p.Thr6605=)	667	DST	Likely benign	-1	RCV001416844;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56365959	56365959	T	C	56365959	-
NM_001374736.1(DST):c.19782A>G (p.Gln6594=)	667	DST	Likely benign	-1	RCV002079868;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56365992	56365992	T	C	56365992	-
NM_001374736.1(DST):c.19776G>A (p.Gln6592=)	667	DST	Likely benign	-1	RCV002085322;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56365998	56365998	C	T	56365998	-
NM_001374736.1(DST):c.19761A>G (p.Leu6587=)	667	DST	Likely benign	-1	RCV001455218;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56366013	56366013	T	C	56366013	-
NM_001374736.1(DST):c.19741-7del	667	DST	Likely benign	-1	RCV001467254;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366040	56366040	GA	G	56366039	-
NM_001374736.1(DST):c.19740+19_19740+59del	667	DST	Uncertain significance	-1	RCV001926265;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56366259	56366299	TTTACATTAATATCTGAAATTGAAAATTTATAATTTCTTAAG	T	56366258	-
NM_001374736.1(DST):c.19733A>G (p.Asn6578Ser)	667	DST	Uncertain significance	-1	RCV001864606;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56366325	56366325	T	C	56366325	-
NM_001374736.1(DST):c.19698A>G (p.Lys6566=)	667	DST	Likely benign	-1	RCV001487341;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366360	56366360	T	C	56366360	-
NM_001374736.1(DST):c.19693C>T (p.Leu6565=)	667	DST	Likely benign	-1	RCV001465487;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366365	56366365	G	A	56366365	-
NM_001374736.1(DST):c.19689G>A (p.Met6563Ile)	667	DST	Uncertain significance	rs1488090620	RCV001303269;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56366369	56366369	C	T	56366369	-
NM_001374736.1(DST):c.19683A>G (p.Pro6561=)	667	DST	Likely benign	-1	RCV001498984;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366375	56366375	T	C	56366375	-
NM_001374736.1(DST):c.19656G>C (p.Glu6552Asp)	667	DST	Uncertain significance	rs199549741	RCV000813415;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366402	56366402	C	G	6:g.56366402C>G	-
NM_001374736.1(DST):c.19649C>T (p.Thr6550Ile)	667	DST	Uncertain significance	-1	RCV001932182;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366409	56366409	G	A	56366409	-
NM_001374736.1(DST):c.19648A>G (p.Thr6550Ala)	667	DST	Benign	rs147983675	RCV000979190;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366410	56366410	T	C	6:g.56366410T>C	-
NM_001374736.1(DST):c.19630C>T (p.Leu6544Phe)	667	DST	Uncertain significance	rs1314348115	RCV001240273;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366428	56366428	G	A	6:g.56366428G>A	-
NM_001374736.1(DST):c.19630C>G (p.Leu6544Val)	667	DST	Uncertain significance	rs1314348115	RCV001248122;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56366428	56366428	G	C	6:g.56366428G>C	-
NM_001374736.1(DST):c.19604T>C (p.Met6535Thr)	667	DST	Uncertain significance	rs1371787646	RCV001327629;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366454	56366454	A	G	56366454	-
NM_001374736.1(DST):c.19594C>G (p.Gln6532Glu)	667	DST	Uncertain significance	-1	RCV001891932;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56366464	56366464	G	C	56366464	-
NM_001374736.1(DST):c.19590A>G (p.Gln6530=)	667	DST	Likely benign	-1	RCV002204038;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56366468	56366468	T	C	56366468	-
NM_001374736.1(DST):c.19582G>A (p.Ala6528Thr)	667	DST	Uncertain significance	-1	RCV002013600;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56366476	56366476	C	T	56366476	-
NM_001374736.1(DST):c.19566+15T>C	667	DST	Likely benign	-1	RCV002094222;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56368780	56368780	A	G	56368780	-
NM_001374736.1(DST):c.19566+11G>A	667	DST	Likely benign	-1	RCV002178184;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56368784	56368784	C	T	56368784	-
NM_001374736.1(DST):c.19566+7G>T	667	DST	Likely benign	-1	RCV001477825;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56368788	56368788	C	A	56368788	-
NM_001374736.1(DST):c.19560G>A (p.Glu6520=)	667	DST	Likely benign	-1	RCV002120252;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56368801	56368801	C	T	56368801	-
NM_001374736.1(DST):c.19553T>C (p.Ile6518Thr)	667	DST	Uncertain significance	rs781138348	RCV001245857;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56368808	56368808	A	G	6:g.56368808A>G	-
NM_001374736.1(DST):c.19538C>T (p.Thr6513Ile)	667	DST	Uncertain significance	rs200108872	RCV001322473;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56368823	56368823	G	A	56368823	-
NM_001374736.1(DST):c.19538C>A (p.Thr6513Asn)	667	DST	Uncertain significance	-1	RCV002010953;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56368823	56368823	G	T	56368823	-
NM_001374736.1(DST):c.19533C>T (p.Leu6511=)	667	DST	Likely benign	-1	RCV002176420;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56368828	56368828	G	A	56368828	-
NM_001374736.1(DST):c.19491A>G (p.Ala6497=)	667	DST	Likely benign	rs1583341150	RCV001407451\|RCV000980441;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56368870	56368870	T	C	6:g.56368870T>C	-
NM_001374736.1(DST):c.19470A>G (p.Val6490=)	667	DST	Likely benign	-1	RCV001435148;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56368891	56368891	T	C	56368891	-
NM_001374736.1(DST):c.19467G>A (p.Ala6489=)	667	DST	Uncertain significance	-1	RCV002022199;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56368894	56368894	C	T	56368894	-
NM_001374736.1(DST):c.19466C>T (p.Ala6489Val)	667	DST	Uncertain significance	rs766294952	RCV001239368\|RCV001261749;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|	6	56368895	56368895	G	A	6:g.56368895G>A	-
NM_001374736.1(DST):c.19465-19G>T	667	DST	Likely benign	-1	RCV001904759;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56368915	56368915	C	A	56368915	-
NM_001374736.1(DST):c.19464+16T>C	667	DST	Likely benign	-1	RCV002107838;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371225	56371225	A	G	56371225	-
NM_001374736.1(DST):c.19453G>T (p.Asp6485Tyr)	667	DST	Uncertain significance	rs2096316666	RCV001246466;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371252	56371252	C	A	6:g.56371252C>A	-
NM_001374736.1(DST):c.19441G>A (p.Val6481Ile)	667	DST	Uncertain significance	-1	RCV001962441;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371264	56371264	C	T	56371264	-
NM_001374736.1(DST):c.19440C>T (p.Ala6480=)	667	DST	Likely benign	-1	RCV002100948;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371265	56371265	G	A	56371265	-
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg)	667	DST	Uncertain significance	-1	RCV001952078;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371290	56371290	T	C	56371290	-
NM_001374736.1(DST):c.19409T>C (p.Ile6470Thr)	667	DST	Uncertain significance	-1	RCV001954240;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371296	56371296	A	G	56371296	-
NM_001374736.1(DST):c.19406G>A (p.Arg6469Gln)	667	DST	Uncertain significance	rs767731448	RCV001246531;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371299	56371299	C	T	6:g.56371299C>T	-
NM_001374736.1(DST):c.19392A>G (p.Lys6464=)	667	DST	Uncertain significance	rs2096318328	RCV001248467;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371313	56371313	T	C	6:g.56371313T>C	-
NM_001374736.1(DST):c.19362+8T>G	667	DST	Likely benign	-1	RCV001472923;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371457	56371457	A	C	56371457	-
NM_001374736.1(DST):c.19356A>G (p.Ile6452Met)	667	DST	Uncertain significance	rs2096326322	RCV001294444;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371471	56371471	T	C	56371471	-
NM_001374736.1(DST):c.19346A>G (p.Lys6449Arg)	667	DST	Uncertain significance	rs775631178	RCV001319144;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371481	56371481	T	C	56371481	-
NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter)	667	DST	Pathogenic/Likely pathogenic	rs1562435373	RCV000754992;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371482	56371482	T	A	NC_000006.11:g.56371482T>A	OMIM:113810.0004
NM_001374736.1(DST):c.19344C>A (p.Val6448=)	667	DST	Benign	rs201031760	RCV000979004;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371483	56371483	G	T	6:g.56371483G>T	-
NM_001374736.1(DST):c.19339A>G (p.Ile6447Val)	667	DST	Uncertain significance	-1	RCV001896165;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371488	56371488	T	C	56371488	-
NM_001374736.1(DST):c.19337C>T (p.Pro6446Leu)	667	DST	Uncertain significance	-1	RCV002005197;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371490	56371490	G	A	56371490	-
NM_001374736.1(DST):c.19332T>C (p.Asp6444=)	667	DST	Likely benign	-1	RCV001424427;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371495	56371495	A	G	56371495	-
NM_001374736.1(DST):c.19322G>A (p.Gly6441Glu)	667	DST	Uncertain significance	-1	RCV001771546\|RCV001885057;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371505	56371505	C	T	56371505	-
NM_001374736.1(DST):c.19320T>C (p.Cys6440=)	667	DST	Likely benign	-1	RCV002158521;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371507	56371507	A	G	56371507	-
NM_001374736.1(DST):c.19317A>G (p.Ala6439=)	667	DST	Likely benign	-1	RCV001467255;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371510	56371510	T	C	56371510	-
NM_001374736.1(DST):c.19314G>A (p.Ala6438=)	667	DST	Uncertain significance	-1	RCV001925513;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371513	56371513	C	T	56371513	-
NM_001374736.1(DST):c.19313C>T (p.Ala6438Val)	667	DST	Uncertain significance	-1	RCV001972990;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371514	56371514	G	A	56371514	-
NM_001374736.1(DST):c.19294C>G (p.Leu6432Val)	667	DST	Uncertain significance	rs1463615455	RCV001348488;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371533	56371533	G	C	56371533	-
NM_001374736.1(DST):c.19272G>T (p.Glu6424Asp)	667	DST	Uncertain significance	rs2096328571	RCV001242822;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371555	56371555	C	A	6:g.56371555C>A	-
NM_001374736.1(DST):c.19240-10C>G	667	DST	Likely benign	-1	RCV002119953;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56371597	56371597	G	C	56371597	-
NM_001374736.1(DST):c.19240-15A>G	667	DST	Likely benign	-1	RCV002093384;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56371602	56371602	T	C	56371602	-
NM_001374736.1(DST):c.19239+10A>T	667	DST	Likely benign	rs767526367	RCV000979186\|RCV001415831;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373317	56373317	T	A	6:g.56373317T>A	-
NM_001374736.1(DST):c.19233A>G (p.Ala6411=)	667	DST	Likely benign	-1	RCV001395943;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373333	56373333	T	C	56373333	-
NM_001374736.1(DST):c.19230A>G (p.Glu6410=)	667	DST	Likely benign	-1	RCV001444665;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373336	56373336	T	C	56373336	-
NM_001374736.1(DST):c.19213G>A (p.Val6405Ile)	667	DST	Uncertain significance	rs2096396105	RCV001316932;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373353	56373353	C	T	56373353	-
NM_001374736.1(DST):c.19212A>G (p.Val6404=)	667	DST	Uncertain significance	-1	RCV001999457;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373354	56373354	T	C	56373354	-
NM_001374736.1(DST):c.19211T>G (p.Val6404Gly)	667	DST	Uncertain significance	-1	RCV001962431;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373355	56373355	A	C	56373355	-
NM_001374736.1(DST):c.19210G>A (p.Val6404Ile)	667	DST	Uncertain significance	rs773401291	RCV001239171;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373356	56373356	C	T	6:g.56373356C>T	-
NM_001374736.1(DST):c.19192C>A (p.Pro6398Thr)	667	DST	Uncertain significance	-1	RCV001956989;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373374	56373374	G	T	56373374	-
NM_001374736.1(DST):c.19178G>A (p.Arg6393Gln)	667	DST	Uncertain significance	rs759918675	RCV001246651;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373388	56373388	C	T	6:g.56373388C>T	-
NM_001374736.1(DST):c.19177C>T (p.Arg6393Trp)	667	DST	Uncertain significance	-1	RCV002027538;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373389	56373389	G	A	56373389	-
NM_001374736.1(DST):c.19175T>C (p.Ile6392Thr)	667	DST	Uncertain significance	-1	RCV001919427;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373391	56373391	A	G	56373391	-
NM_001374736.1(DST):c.19141T>C (p.Leu6381=)	667	DST	Likely benign	-1	RCV001451708;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373425	56373425	A	G	56373425	-
NM_001374736.1(DST):c.19135A>T (p.Met6379Leu)	667	DST	Uncertain significance	-1	RCV001373555;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373431	56373431	T	A	56373431	-
NM_001374736.1(DST):c.19111G>A (p.Ala6371Thr)	667	DST	Uncertain significance	-1	RCV001920777;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373455	56373455	C	T	56373455	-
NM_001374736.1(DST):c.19108C>G (p.Leu6370Val)	667	DST	Uncertain significance	rs2096398026	RCV001299561;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373458	56373458	G	C	56373458	-
NM_001374736.1(DST):c.19102A>G (p.Met6368Val)	667	DST	Uncertain significance	-1	RCV002049214;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373464	56373464	T	C	56373464	-
NM_001374736.1(DST):c.19095G>T (p.Leu6365=)	667	DST	Likely benign	-1	RCV001481542;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373471	56373471	C	A	56373471	-
NM_001374736.1(DST):c.19088A>C (p.Lys6363Thr)	667	DST	Uncertain significance	-1	RCV001991609;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373478	56373478	T	G	56373478	-
NM_001374736.1(DST):c.19074A>G (p.Glu6358=)	667	DST	Likely benign	-1	RCV002184391;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373492	56373492	T	C	56373492	-
NM_001374736.1(DST):c.19056C>T (p.Asn6352=)	667	DST	Likely benign	-1	RCV001470385;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373510	56373510	G	A	56373510	-
NM_001374736.1(DST):c.19047T>C (p.Ile6349=)	667	DST	Likely benign	-1	RCV001451856;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373519	56373519	A	G	56373519	-
NM_001374736.1(DST):c.19042T>G (p.Phe6348Val)	667	DST	Uncertain significance	-1	RCV001986768;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56373524	56373524	A	C	56373524	-
NM_001374736.1(DST):c.19030G>A (p.Asp6344Asn)	667	DST	Benign	-1	RCV001420700\|RCV001514392\|RCV001534960;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56373536	56373536	C	T	56373536	-
NM_001374736.1(DST):c.19013-7T>C	667	DST	Likely benign	-1	RCV001430616;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56373560	56373560	A	G	56373560	-
NM_001374736.1(DST):c.19012+20G>T	667	DST	Uncertain significance	-1	RCV001980153;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374420	56374420	C	A	56374420	-
NM_001374736.1(DST):c.19009A>G (p.Lys6337Glu)	667	DST	Uncertain significance	rs2096426641	RCV001326609;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374443	56374443	T	C	56374443	-
NM_001374736.1(DST):c.19001T>C (p.Ile6334Thr)	667	DST	Uncertain significance	-1	RCV001988696;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374451	56374451	A	G	56374451	-
NM_001374736.1(DST):c.18962A>G (p.Glu6321Gly)	667	DST	Uncertain significance	-1	RCV002008030;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374490	56374490	T	C	56374490	-
NM_001374736.1(DST):c.18938A>G (p.Tyr6313Cys)	667	DST	Uncertain significance	rs781596409	RCV001239300;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374514	56374514	T	C	6:g.56374514T>C	-
NM_001374736.1(DST):c.18921A>G (p.Glu6307=)	667	DST	Likely benign	-1	RCV001450322;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374531	56374531	T	C	56374531	-
NM_001374736.1(DST):c.18918G>C (p.Met6306Ile)	667	DST	Uncertain significance	-1	RCV001921068;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374534	56374534	C	G	56374534	-
NM_001374736.1(DST):c.18917T>C (p.Met6306Thr)	667	DST	Uncertain significance	rs771484088	RCV001297034;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374535	56374535	A	G	56374535	-
NM_001374736.1(DST):c.18908C>T (p.Ser6303Leu)	667	DST	Uncertain significance	rs775490741	RCV001242625;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374544	56374544	G	A	6:g.56374544G>A	-
NM_001374736.1(DST):c.18890G>T (p.Ser6297Ile)	667	DST	Uncertain significance	rs2096429215	RCV001240213;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374562	56374562	C	A	6:g.56374562C>A	-
NM_001374736.1(DST):c.18888C>T (p.Ile6296=)	667	DST	Likely benign	-1	RCV001441421;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374564	56374564	G	A	56374564	-
NM_001374736.1(DST):c.18883C>G (p.Gln6295Glu)	667	DST	Uncertain significance	rs2096429659	RCV001351072;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374569	56374569	G	C	56374569	-
NM_001374736.1(DST):c.18882A>G (p.Glu6294=)	667	DST	Likely benign	-1	RCV001432501;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374570	56374570	T	C	56374570	-
NM_001374736.1(DST):c.18849C>G (p.Pro6283=)	667	DST	Likely benign	-1	RCV001482930;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374603	56374603	G	C	56374603	-
NM_001374736.1(DST):c.18847C>A (p.Pro6283Thr)	667	DST	Uncertain significance	rs2096430348	RCV001244545;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374605	56374605	G	T	6:g.56374605G>T	-
NM_001374736.1(DST):c.18838A>C (p.Arg6280=)	667	DST	Likely benign	-1	RCV001420016;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374614	56374614	T	G	56374614	-
NM_001374736.1(DST):c.18836T>A (p.Leu6279Gln)	667	DST	Uncertain significance	-1	RCV001934242;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374616	56374616	A	T	56374616	-
NM_001374736.1(DST):c.18826G>A (p.Val6276Met)	667	DST	Uncertain significance	rs377620360	RCV001245645;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374626	56374626	C	T	6:g.56374626C>T	-
NM_001374736.1(DST):c.18825C>T (p.Ile6275=)	667	DST	Likely benign	-1	RCV001402494;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374627	56374627	G	A	56374627	-
NM_001374736.1(DST):c.18820C>T (p.Arg6274Cys)	667	DST	Uncertain significance	-1	RCV001922266;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56374632	56374632	G	A	56374632	-
NM_001374736.1(DST):c.18801G>T (p.Gln6267His)	667	DST	Uncertain significance	rs778466743	RCV001344285;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374651	56374651	C	A	56374651	-
NM_001374736.1(DST):c.18788A>G (p.Asp6263Gly)	667	DST	Uncertain significance	-1	RCV001915993;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56374664	56374664	T	C	56374664	-
NM_001374736.1(DST):c.18780+20A>G	667	DST	Likely benign	-1	RCV002213461;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56375975	56375975	T	C	56375975	-
NM_001374736.1(DST):c.18780+14C>G	667	DST	Likely benign	-1	RCV001956711;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56375981	56375981	G	C	56375981	-
NM_001374736.1(DST):c.18777T>C (p.Thr6259=)	667	DST	Likely benign	-1	RCV002209022;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56375998	56375998	A	G	56375998	-
NM_001374736.1(DST):c.18775A>G (p.Thr6259Ala)	667	DST	Uncertain significance	-1	RCV002004924;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376000	56376000	T	C	56376000	-
NM_001374736.1(DST):c.18771A>G (p.Gln6257=)	667	DST	Likely benign	-1	RCV002116762;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376004	56376004	T	C	56376004	-
NM_001374736.1(DST):c.18754G>A (p.Asp6252Asn)	667	DST	Likely benign	-1	RCV001441806;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56376021	56376021	C	T	56376021	-
NM_001374736.1(DST):c.18750A>G (p.Ala6250=)	667	DST	Likely benign	-1	RCV002088657;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376025	56376025	T	C	56376025	-
NM_001374736.1(DST):c.18747G>A (p.Val6249=)	667	DST	Likely benign	-1	RCV001465895;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56376028	56376028	C	T	56376028	-
NM_001374736.1(DST):c.18740G>A (p.Arg6247His)	667	DST	Uncertain significance	rs368560111	RCV001244949;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376035	56376035	C	T	6:g.56376035C>T	-
NM_001374736.1(DST):c.18739C>T (p.Arg6247Cys)	667	DST	Uncertain significance	-1	RCV001926296;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376036	56376036	G	A	56376036	-
NM_001374736.1(DST):c.18715C>T (p.Gln6239Ter)	667	DST	Pathogenic	rs2096469777	RCV001248592;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56376060	56376060	G	A	6:g.56376060G>A	-
NM_001374736.1(DST):c.18702C>T (p.Asp6234=)	667	DST	Likely benign	-1	RCV001483483;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376073	56376073	G	A	56376073	-
NM_001374736.1(DST):c.18701A>G (p.Asp6234Gly)	667	DST	Uncertain significance	-1	RCV001359473;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376074	56376074	T	C	56376074	-
NM_001374736.1(DST):c.18700G>A (p.Asp6234Asn)	667	DST	Uncertain significance	rs753185411	RCV001295126;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376075	56376075	C	T	56376075	-
NM_001374736.1(DST):c.18699C>T (p.Ala6233=)	667	DST	Likely benign	rs373689917	RCV000979184;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56376076	56376076	G	A	6:g.56376076G>A	-
NM_001374736.1(DST):c.18695C>T (p.Ala6232Val)	667	DST	Uncertain significance	-1	RCV001373937;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56376080	56376080	G	A	56376080	-
NM_001374736.1(DST):c.18684G>A (p.Glu6228=)	667	DST	Benign	-1	RCV001514395\|RCV001615189;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56376091	56376091	C	T	56376091	-
NM_001374736.1(DST):c.18673T>G (p.Ser6225Ala)	667	DST	Uncertain significance	rs1033335791	RCV001242564;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376102	56376102	A	C	6:g.56376102A>C	-
NM_001374736.1(DST):c.18625A>T (p.Asn6209Tyr)	667	DST	Uncertain significance	-1	RCV002020718;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376150	56376150	T	A	56376150	-
NM_001374736.1(DST):c.18621G>A (p.Lys6207=)	667	DST	Likely benign	rs1583547445	RCV000979092\|RCV001410503;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56376154	56376154	C	T	6:g.56376154C>T	-
NM_001374736.1(DST):c.18606G>A (p.Lys6202=)	667	DST	Likely benign	-1	RCV001502455;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376169	56376169	C	T	56376169	-
NM_001374736.1(DST):c.18601C>T (p.His6201Tyr)	667	DST	Uncertain significance	rs371649829	RCV001295125;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376174	56376174	G	A	56376174	-
NM_001374736.1(DST):c.18597T>C (p.Ala6199=)	667	DST	Likely benign	-1	RCV001457942;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56376178	56376178	A	G	56376178	-
NM_001374736.1(DST):c.18589T>C (p.Leu6197=)	667	DST	Likely benign	-1	RCV001466350;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56376186	56376186	A	G	56376186	-
NM_001374736.1(DST):c.18577-3T>C	667	DST	Uncertain significance	-1	RCV001921397;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56376201	56376201	A	G	56376201	-
NM_001374736.1(DST):c.18576+10G>A	667	DST	Likely benign	-1	RCV002164397;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380238	56380238	C	T	56380238	-
NM_001374736.1(DST):c.18576G>A (p.Arg6192=)	667	DST	Uncertain significance	rs2096570211	RCV001238912;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380248	56380248	C	T	6:g.56380248C>T	-
NM_001374736.1(DST):c.18571C>T (p.His6191Tyr)	667	DST	Uncertain significance	rs764457552	RCV001349556;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380253	56380253	G	A	56380253	-
NM_001374736.1(DST):c.18568G>A (p.Glu6190Lys)	667	DST	Uncertain significance	rs754382598	RCV001245921;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380256	56380256	C	T	6:g.56380256C>T	-
NM_001374736.1(DST):c.18543T>C (p.Tyr6181=)	667	DST	Likely benign	-1	RCV002218689;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380281	56380281	A	G	56380281	-
NM_001374736.1(DST):c.18526G>A (p.Ala6176Thr)	667	DST	Uncertain significance	rs540680338	RCV001239734;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380298	56380298	C	T	6:g.56380298C>T	-
NM_001374736.1(DST):c.18525C>T (p.Pro6175=)	667	DST	Likely benign	-1	RCV001445439;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380299	56380299	G	A	56380299	-
NM_001374736.1(DST):c.18513C>G (p.Ile6171Met)	667	DST	Uncertain significance	rs1029481180	RCV001242562;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380311	56380311	G	C	6:g.56380311G>C	-
NM_001374736.1(DST):c.18511A>G (p.Ile6171Val)	667	DST	Uncertain significance	-1	RCV001864614;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380313	56380313	T	C	56380313	-
NM_001374736.1(DST):c.18508A>G (p.Ile6170Val)	667	DST	Uncertain significance	rs374091334	RCV001342561;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380316	56380316	T	C	56380316	-
NM_001374736.1(DST):c.18489G>C (p.Trp6163Cys)	667	DST	Uncertain significance	-1	RCV001870366;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380335	56380335	C	G	56380335	-
NM_001374736.1(DST):c.18480T>C (p.Leu6160=)	667	DST	Likely benign	-1	RCV001470426;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380344	56380344	A	G	56380344	-
NM_001374736.1(DST):c.18478C>T (p.Leu6160Phe)	667	DST	Uncertain significance	-1	RCV001363264;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380346	56380346	G	A	56380346	-
NM_001374736.1(DST):c.18472G>A (p.Glu6158Lys)	667	DST	Uncertain significance	rs955207101	RCV001322995;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380352	56380352	C	T	56380352	-
NM_001374736.1(DST):c.18448G>A (p.Val6150Ile)	667	DST	Uncertain significance	-1	RCV001367337;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380376	56380376	C	T	56380376	-
NM_001374736.1(DST):c.18439C>T (p.Gln6147Ter)	667	DST	Pathogenic	-1	RCV002035254;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380385	56380385	G	A	56380385	-
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp)	667	DST	Conflicting interpretations of pathogenicity	rs193252082	RCV000981886\|RCV001200472;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56380391	56380391	G	A	6:g.56380391G>A	-
NM_001374736.1(DST):c.18432A>G (p.Glu6144=)	667	DST	Likely benign	-1	RCV002081050;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380392	56380392	T	C	56380392	-
NM_001374736.1(DST):c.18404T>G (p.Ile6135Ser)	667	DST	Uncertain significance	rs760688522	RCV000815504;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380420	56380420	A	C	6:g.56380420A>C	-
NM_001374736.1(DST):c.18397T>A (p.Cys6133Ser)	667	DST	Benign/Likely benign	rs75105686	RCV000979017\|RCV001766800;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56380427	56380427	A	T	6:g.56380427A>T	-
NM_001374736.1(DST):c.18392C>A (p.Thr6131Asn)	667	DST	Uncertain significance	-1	RCV002050416;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380432	56380432	G	T	56380432	-
NM_001374736.1(DST):c.18381G>C (p.Lys6127Asn)	667	DST	Uncertain significance	-1	RCV001998379;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380443	56380443	C	G	56380443	-
NM_001374736.1(DST):c.18373G>A (p.Val6125Ile)	667	DST	Uncertain significance	-1	RCV001929021;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380451	56380451	C	T	56380451	-
NM_001374736.1(DST):c.18358-13T>C	667	DST	Likely benign	-1	RCV002093874;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56380479	56380479	A	G	56380479	-
NM_001374736.1(DST):c.18358-16T>C	667	DST	Benign	-1	RCV002180388;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380482	56380482	A	G	56380482	-
NM_001374736.1(DST):c.18358-20T>G	667	DST	Likely benign	-1	RCV001960595;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56380486	56380486	A	C	56380486	-
NM_001374736.1(DST):c.18357+15G>A	667	DST	Likely benign	-1	RCV002087111;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56381981	56381981	C	T	56381981	-
NM_001374736.1(DST):c.18357+5A>C	667	DST	Uncertain significance	-1	RCV001977094;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56381991	56381991	T	G	56381991	-
NM_001374736.1(DST):c.18351A>C (p.Ser6117=)	667	DST	Likely benign	-1	RCV002210258;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56382002	56382002	T	G	56382002	-
NM_001374736.1(DST):c.18348A>G (p.Gln6116=)	667	DST	Likely benign	-1	RCV001467253;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382005	56382005	T	C	56382005	-
NM_001374736.1(DST):c.18325G>A (p.Ala6109Thr)	667	DST	Uncertain significance	-1	RCV001968037;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382028	56382028	C	T	56382028	-
NM_001374736.1(DST):c.18324C>T (p.Thr6108=)	667	DST	Likely benign	-1	RCV001448866;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56382029	56382029	G	A	56382029	-
NM_001374736.1(DST):c.18298G>A (p.Val6100Ile)	667	DST	Uncertain significance	-1	RCV001877092;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382055	56382055	C	T	56382055	-
NM_001374736.1(DST):c.18276C>G (p.His6092Gln)	667	DST	Uncertain significance	rs747211113	RCV001245858;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56382077	56382077	G	C	6:g.56382077G>C	-
NM_001374736.1(DST):c.18257C>T (p.Thr6086Ile)	667	DST	Uncertain significance	rs769780483	RCV001245855;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56382096	56382096	G	A	6:g.56382096G>A	-
NM_001374736.1(DST):c.18253T>C (p.Phe6085Leu)	667	DST	Uncertain significance	rs370466372	RCV001322522;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382100	56382100	A	G	56382100	-
NM_001374736.1(DST):c.18250A>G (p.Thr6084Ala)	667	DST	Uncertain significance	rs749880417	RCV001341002;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382103	56382103	T	C	56382103	-
NM_001374736.1(DST):c.18250-7A>T	667	DST	Likely benign	-1	RCV001452163;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382110	56382110	T	A	56382110	-
NM_001374736.1(DST):c.18250-11G>A	667	DST	Likely benign	-1	RCV002153282;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382114	56382114	C	T	56382114	-
NM_001374736.1(DST):c.18250-11G>T	667	DST	Likely benign	-1	RCV002099394;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56382114	56382114	C	A	56382114	-
NM_001374736.1(DST):c.18249+10T>C	667	DST	Likely benign	-1	RCV001408530;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382289	56382289	A	G	56382289	-
NM_001374736.1(DST):c.18249+3G>A	667	DST	Uncertain significance	rs200813187	RCV001246798;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56382296	56382296	C	T	6:g.56382296C>T	-
NM_001374736.1(DST):c.18219C>T (p.Asp6073=)	667	DST	Likely benign	-1	RCV002207278;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382329	56382329	G	A	56382329	-
NM_001374736.1(DST):c.18213G>T (p.Glu6071Asp)	667	DST	Uncertain significance	rs373876039	RCV001243366;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56382335	56382335	C	A	6:g.56382335C>A	-
NM_001374736.1(DST):c.18178A>G (p.Lys6060Glu)	667	DST	Uncertain significance	-1	RCV001948836;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56382370	56382370	T	C	56382370	-
NM_001374736.1(DST):c.18177A>T (p.Glu6059Asp)	667	DST	Uncertain significance	rs1275339494	RCV001238970;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382371	56382371	T	A	6:g.56382371T>A	-
NM_001374736.1(DST):c.18146A>G (p.Asp6049Gly)	667	DST	Uncertain significance	rs1172615642	RCV001295572;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56382402	56382402	T	C	56382402	-
NM_001374736.1(DST):c.18135C>G (p.Asp6045Glu)	667	DST	Uncertain significance	rs368605712	RCV001248664;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56382413	56382413	G	C	6:g.56382413G>C	-
NM_001374736.1(DST):c.18129+12T>C	667	DST	Likely benign	-1	RCV002216676;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391147	56391147	A	G	56391147	-
NM_001374736.1(DST):c.18123A>G (p.Ser6041=)	667	DST	Likely benign	-1	RCV002160837;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391165	56391165	T	C	56391165	-
NM_001374736.1(DST):c.18119G>A (p.Arg6040Gln)	667	DST	Uncertain significance	-1	RCV001984772;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391169	56391169	C	T	56391169	-
NM_001374736.1(DST):c.18117G>T (p.Leu6039=)	667	DST	Likely benign	-1	RCV002154305;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391171	56391171	C	A	56391171	-
NM_001374736.1(DST):c.18105T>C (p.Asp6035=)	667	DST	Benign	rs148368712	RCV000979019\|RCV001638025;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56391183	56391183	A	G	6:g.56391183A>G	-
NM_001374736.1(DST):c.18102C>T (p.Ile6034=)	667	DST	Likely benign	-1	RCV001456513;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391186	56391186	G	A	56391186	-
NM_001374736.1(DST):c.18091G>A (p.Val6031Met)	667	DST	Uncertain significance	rs1164812960	RCV001241933;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391197	56391197	C	T	6:g.56391197C>T	-
NM_001374736.1(DST):c.18082A>G (p.Thr6028Ala)	667	DST	Uncertain significance	rs757401983	RCV001309752;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391206	56391206	T	C	56391206	-
NM_001374736.1(DST):c.18081C>T (p.Ile6027=)	667	DST	Likely benign	-1	RCV001428425;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391207	56391207	G	A	56391207	-
NM_001374736.1(DST):c.18076A>G (p.Thr6026Ala)	667	DST	Uncertain significance	-1	RCV002007808;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391212	56391212	T	C	56391212	-
NM_001374736.1(DST):c.18072C>T (p.Ser6024=)	667	DST	Likely benign	-1	RCV001500297;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391216	56391216	G	A	56391216	-
NM_001374736.1(DST):c.18071G>A (p.Ser6024Asn)	667	DST	Uncertain significance	-1	RCV001361395;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391217	56391217	C	T	56391217	-
NM_001374736.1(DST):c.18065T>C (p.Leu6022Ser)	667	DST	Uncertain significance	rs2096797952	RCV001247512;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391223	56391223	A	G	6:g.56391223A>G	-
NM_001374736.1(DST):c.18062G>A (p.Arg6021Gln)	667	DST	Uncertain significance	rs755338488	RCV001247062;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391226	56391226	C	T	6:g.56391226C>T	-
NM_001374736.1(DST):c.18061C>T (p.Arg6021Ter)	667	DST	Pathogenic	-1	RCV001960697;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391227	56391227	G	A	56391227	-
NM_001374736.1(DST):c.18056G>A (p.Arg6019His)	667	DST	Uncertain significance	rs745991437	RCV001243432;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391232	56391232	C	T	6:g.56391232C>T	-
NM_001374736.1(DST):c.18050A>G (p.Asn6017Ser)	667	DST	Uncertain significance	-1	RCV002038212;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391238	56391238	T	C	56391238	-
NM_001374736.1(DST):c.18047A>G (p.Asp6016Gly)	667	DST	Uncertain significance	rs1444942164	RCV000625439\|RCV001700278\|RCV001347780;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391241	56391241	T	C	6:g.56391241T>C	ClinGen:CA364505744	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.18039A>G (p.Val6013=)	667	DST	Likely benign	-1	RCV001495432;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391249	56391249	T	C	56391249	-
NM_001374736.1(DST):c.18036G>A (p.Met6012Ile)	667	DST	Uncertain significance	-1	RCV002029311;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391252	56391252	C	T	56391252	-
NM_001374736.1(DST):c.18023G>A (p.Gly6008Glu)	667	DST	Uncertain significance	rs746414483	RCV001240274;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391265	56391265	C	T	6:g.56391265C>T	-
NM_001374736.1(DST):c.18008G>A (p.Trp6003Ter)	667	DST	Pathogenic	rs2096799052	RCV001242502;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391280	56391280	C	T	6:g.56391280C>T	-
NM_001374736.1(DST):c.18005C>T (p.Pro6002Leu)	667	DST	Uncertain significance	-1	RCV001896763;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391283	56391283	G	A	56391283	-
NM_001374736.1(DST):c.18001G>A (p.Val6001Ile)	667	DST	Uncertain significance	-1	RCV002001922;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391287	56391287	C	T	56391287	-
NM_001374736.1(DST):c.17974G>A (p.Glu5992Lys)	667	DST	Uncertain significance	rs1272059049	RCV001348084;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391314	56391314	C	T	56391314	-
NM_001374736.1(DST):c.17968C>G (p.Leu5990Val)	667	DST	Uncertain significance	-1	RCV002026188;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391320	56391320	G	C	56391320	-
NM_001374736.1(DST):c.17948A>G (p.Asn5983Ser)	667	DST	Uncertain significance	rs201492565	RCV001241249;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391340	56391340	T	C	6:g.56391340T>C	-
NM_001374736.1(DST):c.17942A>G (p.Lys5981Arg)	667	DST	Uncertain significance	rs2096799768	RCV001246527;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391346	56391346	T	C	6:g.56391346T>C	-
NM_001374736.1(DST):c.17940T>G (p.Ala5980=)	667	DST	Likely benign	-1	RCV002206154;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391348	56391348	A	C	56391348	-
NM_001374736.1(DST):c.17939C>G (p.Ala5980Gly)	667	DST	Uncertain significance	-1	RCV001865193;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391349	56391349	G	C	56391349	-
NM_001374736.1(DST):c.17928G>A (p.Leu5976=)	667	DST	Likely benign	-1	RCV002103418;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391360	56391360	C	T	56391360	-
NM_001374736.1(DST):c.17923G>A (p.Glu5975Lys)	667	DST	Uncertain significance	rs371243432	RCV001248190;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56391365	56391365	C	T	6:g.56391365C>T	-
NM_001374736.1(DST):c.17923-2A>G	667	DST	Likely pathogenic	-1	RCV001998586;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56391367	56391367	T	C	56391367	-
NM_001374736.1(DST):c.17923-10A>G	667	DST	Benign	rs116504133	RCV000979020\|RCV001541838;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56391375	56391375	T	C	6:g.56391375T>C	-
NM_001374736.1(DST):c.17922+3A>G	667	DST	Uncertain significance	rs370384005	RCV001297856;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392288	56392288	T	C	56392288	-
NM_001374736.1(DST):c.17922G>A (p.Lys5974=)	667	DST	Uncertain significance	-1	RCV001979831;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56392291	56392291	C	T	56392291	-
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)	667	DST	Uncertain significance	-1	RCV002037357;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56392319	56392319	T	G	56392319	-
NM_001374736.1(DST):c.17889A>T (p.Gly5963=)	667	DST	Uncertain significance	-1	RCV001982724;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392324	56392324	T	A	56392324	-
NM_001374736.1(DST):c.17880T>G (p.Val5960=)	667	DST	Likely benign	-1	RCV002158004;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56392333	56392333	A	C	56392333	-
NM_001374736.1(DST):c.17831C>T (p.Thr5944Ile)	667	DST	Uncertain significance	-1	RCV002022639;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392382	56392382	G	A	56392382	-
NM_001374736.1(DST):c.17830A>G (p.Thr5944Ala)	667	DST	Uncertain significance	rs1252419878	RCV001245919;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392383	56392383	T	C	6:g.56392383T>C	-
NM_001374736.1(DST):c.17828G>A (p.Cys5943Tyr)	667	DST	Uncertain significance	-1	RCV001919207;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56392385	56392385	C	T	56392385	-
NM_001374736.1(DST):c.17817C>T (p.His5939=)	667	DST	Likely benign	-1	RCV001431537;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392396	56392396	G	A	56392396	-
NM_001374736.1(DST):c.17807A>G (p.His5936Arg)	667	DST	Uncertain significance	-1	RCV002046713;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392406	56392406	T	C	56392406	-
NM_001374736.1(DST):c.17804T>A (p.Leu5935Gln)	667	DST	Uncertain significance	rs763300533	RCV001239233\|RCV001507672;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56392409	56392409	A	T	6:g.56392409A>T	-
NM_001374736.1(DST):c.17801G>A (p.Arg5934Gln)	667	DST	Uncertain significance	rs537793986	RCV001240069;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56392412	56392412	C	T	6:g.56392412C>T	-
NM_001374736.1(DST):c.17800C>T (p.Arg5934Trp)	667	DST	Uncertain significance	-1	RCV001866996;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392413	56392413	G	A	56392413	-
NM_001374736.1(DST):c.17784G>A (p.Ala5928=)	667	DST	Likely benign	-1	RCV001405653;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56392429	56392429	C	T	56392429	-
NM_001374736.1(DST):c.17783C>T (p.Ala5928Val)	667	DST	Uncertain significance	rs764588106	RCV001297622;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392430	56392430	G	A	56392430	-
NM_001374736.1(DST):c.17773C>G (p.Leu5925Val)	667	DST	Uncertain significance	-1	RCV001990176;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392440	56392440	G	C	56392440	-
NM_001374736.1(DST):c.17772T>A (p.Thr5924=)	667	DST	Likely benign	-1	RCV002145652;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56392441	56392441	A	T	56392441	-
NM_001374736.1(DST):c.17764G>A (p.Ala5922Thr)	667	DST	Uncertain significance	-1	RCV001795519\|RCV002034653;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56392449	56392449	C	T	56392449	-
NM_001374736.1(DST):c.17730G>A (p.Arg5910=)	667	DST	Likely benign	-1	RCV001474916;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56392483	56392483	C	T	56392483	-
NM_001374736.1(DST):c.17696T>C (p.Ile5899Thr)	667	DST	Uncertain significance	-1	RCV002026256;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392517	56392517	A	G	56392517	-
NM_001374736.1(DST):c.17683G>C (p.Asp5895His)	667	DST	Uncertain significance	-1	RCV001864475;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392530	56392530	C	G	56392530	-
NM_001374736.1(DST):c.17681-19C>T	667	DST	Likely benign	-1	RCV002098580;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56392551	56392551	G	A	56392551	-
NM_001374736.1(DST):c.17671C>G (p.Gln5891Glu)	667	DST	Uncertain significance	rs757060967	RCV001338338;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56393648	56393648	G	C	56393648	-
NM_001374736.1(DST):c.17658A>G (p.Leu5886=)	667	DST	Likely benign	-1	RCV002178278;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56393661	56393661	T	C	56393661	-
NM_001374736.1(DST):c.17645T>C (p.Leu5882Ser)	667	DST	Uncertain significance	rs2096847724	RCV001246726;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56393674	56393674	A	G	6:g.56393674A>G	-
NM_001374736.1(DST):c.17627A>G (p.Gln5876Arg)	667	DST	Uncertain significance	-1	RCV001879108;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56393692	56393692	T	C	56393692	-
NM_001374736.1(DST):c.17603A>C (p.Gln5868Pro)	667	DST	Uncertain significance	rs769166134	RCV001343807;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56393716	56393716	T	G	56393716	-
NM_001374736.1(DST):c.17601G>T (p.Leu5867=)	667	DST	Likely benign	-1	RCV002141733;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56393718	56393718	C	A	56393718	-
NM_001374736.1(DST):c.17596-11T>C	667	DST	Likely benign	-1	RCV002146407;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56393734	56393734	A	G	56393734	-
NM_001374736.1(DST):c.17596-15T>C	667	DST	Likely benign	-1	RCV002212775;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56393738	56393738	A	G	56393738	-
NM_001374736.1(DST):c.17595+1G>A	667	DST	Likely pathogenic	rs2096858510	RCV001243780;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394245	56394245	C	T	6:g.56394245C>T	-
NM_001374736.1(DST):c.17595G>C (p.Arg5865=)	667	DST	Uncertain significance	rs2096858541	RCV001346795;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394246	56394246	C	G	56394246	-
NM_001374736.1(DST):c.17593C>T (p.Arg5865Trp)	667	DST	Uncertain significance	rs766911461	RCV001298114;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394248	56394248	G	A	56394248	-
NM_001374736.1(DST):c.17582A>G (p.Gln5861Arg)	667	DST	Uncertain significance	-1	RCV001945287;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394259	56394259	T	C	56394259	-
NM_001374736.1(DST):c.17577G>A (p.Lys5859=)	667	DST	Likely benign	-1	RCV002138608;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394264	56394264	C	T	56394264	-
NM_001374736.1(DST):c.17568G>A (p.Gly5856=)	667	DST	Likely benign	-1	RCV001475184;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394273	56394273	C	T	56394273	-
NM_001374736.1(DST):c.17555A>G (p.Tyr5852Cys)	667	DST	Uncertain significance	rs757046386	RCV001245507;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394286	56394286	T	C	6:g.56394286T>C	-
NM_001374736.1(DST):c.17551G>T (p.Asp5851Tyr)	667	DST	Uncertain significance	rs180773742	RCV001243701;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394290	56394290	C	A	6:g.56394290C>A	-
NM_001374736.1(DST):c.17551G>A (p.Asp5851Asn)	667	DST	Uncertain significance	-1	RCV002021227;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394290	56394290	C	T	56394290	-
NM_001374736.1(DST):c.17547C>T (p.Val5849=)	667	DST	Likely benign	-1	RCV001474380;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394294	56394294	G	A	56394294	-
NM_001374736.1(DST):c.17522A>C (p.His5841Pro)	667	DST	Uncertain significance	rs758568001	RCV001294790;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394319	56394319	T	G	56394319	-
NM_001374736.1(DST):c.17522A>T (p.His5841Leu)	667	DST	Likely benign	-1	RCV001438228;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394319	56394319	T	A	56394319	-
NM_001374736.1(DST):c.17520G>A (p.Val5840=)	667	DST	Likely benign	-1	RCV001457904;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394321	56394321	C	T	56394321	-
NM_001374736.1(DST):c.17519T>G (p.Val5840Gly)	667	DST	Uncertain significance	-1	RCV001948839;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394322	56394322	A	C	56394322	-
NM_001374736.1(DST):c.17505C>T (p.Asn5835=)	667	DST	Likely benign	-1	RCV002096387;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394336	56394336	G	A	56394336	-
NM_001374736.1(DST):c.17496A>C (p.Glu5832Asp)	667	DST	Uncertain significance	rs773757881	RCV001319752;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394345	56394345	T	G	56394345	-
NM_001374736.1(DST):c.17489A>C (p.Glu5830Ala)	667	DST	Uncertain significance	rs373654920	RCV001308753;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394352	56394352	T	G	56394352	-
NM_001374736.1(DST):c.17450A>G (p.Gln5817Arg)	667	DST	Uncertain significance	rs761791970	RCV001245163;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394391	56394391	T	C	6:g.56394391T>C	-
NM_001374736.1(DST):c.17450A>T (p.Gln5817Leu)	667	DST	Uncertain significance	-1	RCV001903848;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394391	56394391	T	A	56394391	-
NM_001374736.1(DST):c.17443C>A (p.Leu5815Ile)	667	DST	Uncertain significance	rs750180346	RCV001298746;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394398	56394398	G	T	56394398	-
NM_001374736.1(DST):c.17397A>C (p.Gln5799His)	667	DST	Uncertain significance	-1	RCV001872772;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394444	56394444	T	G	56394444	-
NM_001374736.1(DST):c.17386G>A (p.Asp5796Asn)	667	DST	Uncertain significance	rs186699708	RCV001246802;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394455	56394455	C	T	6:g.56394455C>T	-
NM_001374736.1(DST):c.17385A>G (p.Leu5795=)	667	DST	Likely benign	-1	RCV002102415;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394456	56394456	T	C	56394456	-
NM_001374736.1(DST):c.17378G>A (p.Ser5793Asn)	667	DST	Uncertain significance	rs369521830	RCV001241063;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394463	56394463	C	T	6:g.56394463C>T	-
NM_001374736.1(DST):c.17365G>A (p.Asp5789Asn)	667	DST	Uncertain significance	-1	RCV001910818;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394476	56394476	C	T	56394476	-
NM_001374736.1(DST):c.17340G>A (p.Lys5780=)	667	DST	Likely benign	-1	RCV001417146;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394501	56394501	C	T	56394501	-
NM_001374736.1(DST):c.17326G>C (p.Gly5776Arg)	667	DST	Uncertain significance	-1	RCV002046481;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394515	56394515	C	G	56394515	-
NM_001374736.1(DST):c.17310C>A (p.His5770Gln)	667	DST	Uncertain significance	rs751772852	RCV001295129;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394531	56394531	G	T	56394531	-
NM_001374736.1(DST):c.17308C>T (p.His5770Tyr)	667	DST	Uncertain significance	-1	RCV002017129;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394533	56394533	G	A	56394533	-
NM_001374736.1(DST):c.17303A>G (p.His5768Arg)	667	DST	Uncertain significance	rs755202054	RCV001246192;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394538	56394538	T	C	6:g.56394538T>C	-
NM_001374736.1(DST):c.17280T>C (p.Asp5760=)	667	DST	Likely benign	-1	RCV001477059;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394561	56394561	A	G	56394561	-
NM_001374736.1(DST):c.17269-3T>A	667	DST	Uncertain significance	rs373884076	RCV001245303;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394575	56394575	A	T	6:g.56394575A>T	-
NM_001374736.1(DST):c.17268+7T>C	667	DST	Likely benign	-1	RCV001494877;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394765	56394765	A	G	56394765	-
NM_001374736.1(DST):c.17268+6A>G	667	DST	Uncertain significance	rs2096867211	RCV001243905;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394766	56394766	T	C	6:g.56394766T>C	-
NM_001374736.1(DST):c.17251C>T (p.Gln5751Ter)	667	DST	Pathogenic	rs2096867388	RCV001247971;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394789	56394789	G	A	6:g.56394789G>A	-
NM_001374736.1(DST):c.17235A>G (p.Ala5745=)	667	DST	Likely benign	-1	RCV001405652;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394805	56394805	T	C	56394805	-
NM_001374736.1(DST):c.17234C>T (p.Ala5745Val)	667	DST	Uncertain significance	rs1562586282	RCV001246462;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394806	56394806	G	A	6:g.56394806G>A	-
NM_001374736.1(DST):c.17232A>C (p.Gln5744His)	667	DST	Uncertain significance	rs1156755669	RCV001244814;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394808	56394808	T	G	6:g.56394808T>G	-
NM_001374736.1(DST):c.17220C>T (p.Pro5740=)	667	DST	Likely benign	-1	RCV001498124;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394820	56394820	G	A	56394820	-
NM_001374736.1(DST):c.17176G>A (p.Glu5726Lys)	667	DST	Uncertain significance	rs774345974	RCV001243903;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394864	56394864	C	T	6:g.56394864C>T	-
NM_001374736.1(DST):c.17158A>G (p.Thr5720Ala)	667	DST	Uncertain significance	rs761029398	RCV001340947;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394882	56394882	T	C	56394882	-
NM_001374736.1(DST):c.17157A>G (p.Glu5719=)	667	DST	Likely benign	-1	RCV001428971;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394883	56394883	T	C	56394883	-
NM_001374736.1(DST):c.17153A>G (p.His5718Arg)	667	DST	Uncertain significance	rs757364222	RCV001239860;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394887	56394887	T	C	6:g.56394887T>C	-
NM_001374736.1(DST):c.17143C>A (p.Gln5715Lys)	667	DST	Uncertain significance	rs1562587802	RCV001241128;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394897	56394897	G	T	6:g.56394897G>T	-
NM_001374736.1(DST):c.17141C>T (p.Ala5714Val)	667	DST	Uncertain significance	-1	RCV001974173;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394899	56394899	G	A	56394899	-
NM_001374736.1(DST):c.17140G>A (p.Ala5714Thr)	667	DST	Uncertain significance	rs1225545020	RCV001240144;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394900	56394900	C	T	6:g.56394900C>T	-
NM_001374736.1(DST):c.17133G>A (p.Ser5711=)	667	DST	Likely benign	-1	RCV001503881;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394907	56394907	C	T	56394907	-
NM_001374736.1(DST):c.17133G>T (p.Ser5711=)	667	DST	Likely benign	-1	RCV002094607;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394907	56394907	C	A	56394907	-
NM_001374736.1(DST):c.17128A>G (p.Ile5710Val)	667	DST	Uncertain significance	-1	RCV002029303;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394912	56394912	T	C	56394912	-
NM_001374736.1(DST):c.17123A>G (p.Glu5708Gly)	667	DST	Uncertain significance	rs894146699	RCV001239858;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394917	56394917	T	C	6:g.56394917T>C	-
NM_001374736.1(DST):c.17113C>T (p.Arg5705Cys)	667	DST	Uncertain significance	rs979136179	RCV001241061;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394927	56394927	G	A	6:g.56394927G>A	-
NM_001374736.1(DST):c.17109-9C>T	667	DST	Likely benign	-1	RCV001503851;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56394940	56394940	G	A	56394940	-
NM_001374736.1(DST):c.17109-12G>A	667	DST	Likely benign	-1	RCV002179434;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56394943	56394943	C	T	56394943	-
NM_001374736.1(DST):c.17108+10A>G	667	DST	Benign	rs191140581	RCV000979022\|RCV001729774;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56397132	56397132	T	C	6:g.56397132T>C	-
NM_001374736.1(DST):c.17108+9T>C	667	DST	Likely benign	-1	RCV001494879;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56397133	56397133	A	G	56397133	-
NM_001374736.1(DST):c.17108+6T>C	667	DST	Uncertain significance	rs375166905	RCV001246649;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56397136	56397136	A	G	6:g.56397136A>G	-
NM_001374736.1(DST):c.17105C>T (p.Thr5702Ile)	667	DST	Uncertain significance	-1	RCV001913819;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56397145	56397145	G	A	56397145	-
NM_001374736.1(DST):c.17086T>C (p.Leu5696=)	667	DST	Likely benign	-1	RCV001457427;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56397164	56397164	A	G	56397164	-
NM_001374736.1(DST):c.17082G>A (p.Glu5694=)	667	DST	Likely benign	-1	RCV001502483;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56397168	56397168	C	T	56397168	-
NM_001374736.1(DST):c.17070T>C (p.Asp5690=)	667	DST	Likely benign	-1	RCV001393321;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56397180	56397180	A	G	56397180	-
NM_001374736.1(DST):c.17044A>G (p.Ile5682Val)	667	DST	Uncertain significance	-1	RCV001928127;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56397206	56397206	T	C	56397206	-
NM_001374736.1(DST):c.17030C>T (p.Ala5677Val)	667	DST	Benign	rs145976321	RCV000979021\|RCV001597237;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56397220	56397220	G	A	6:g.56397220G>A	-
NM_001374736.1(DST):c.17028C>G (p.Pro5676=)	667	DST	Likely benign	-1	RCV002214822;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56397222	56397222	G	C	56397222	-
NM_001374736.1(DST):c.17011G>A (p.Ala5671Thr)	667	DST	Uncertain significance	rs1584257296	RCV001350101;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56397239	56397239	C	T	56397239	-
NM_001374736.1(DST):c.16977G>A (p.Thr5659=)	667	DST	Likely benign	-1	RCV001467257;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56397273	56397273	C	T	56397273	-
NM_001374736.1(DST):c.16967G>A (p.Arg5656Gln)	667	DST	Conflicting interpretations of pathogenicity	rs116774070	RCV000998630\|RCV001449325;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56397283	56397283	C	T	6:g.56397283C>T	-
NM_001374736.1(DST):c.16956G>T (p.Leu5652Phe)	667	DST	Uncertain significance	rs371645175	RCV001248336;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56397294	56397294	C	A	6:g.56397294C>A	-
NM_001374736.1(DST):c.16956G>A (p.Leu5652=)	667	DST	Likely benign	-1	RCV001478760;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56397294	56397294	C	T	56397294	-
NM_001374736.1(DST):c.16942-10T>C	667	DST	Likely benign	-1	RCV001463791;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56397318	56397318	A	G	56397318	-
NM_001374736.1(DST):c.16941+9G>T	667	DST	Likely benign	-1	RCV002215863;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56399911	56399911	C	A	56399911	-
NM_001374736.1(DST):c.16941+4A>G	667	DST	Uncertain significance	rs76350521	RCV001242387;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56399916	56399916	T	C	6:g.56399916T>C	-
NM_001374736.1(DST):c.16922C>T (p.Ala5641Val)	667	DST	Uncertain significance	rs768150254	RCV000998631\|RCV001243637;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56399939	56399939	G	A	6:g.56399939G>A	-
NM_001374736.1(DST):c.16914G>A (p.Val5638=)	667	DST	Likely benign	-1	RCV001483484;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56399947	56399947	C	T	56399947	-
NM_001374736.1(DST):c.16895C>T (p.Pro5632Leu)	667	DST	Uncertain significance	rs1178200177	RCV001347358;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56399966	56399966	G	A	56399966	-
NM_001374736.1(DST):c.16889A>G (p.Lys5630Arg)	667	DST	Uncertain significance	rs1236590396	RCV001318470;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56399972	56399972	T	C	56399972	-
NM_001374736.1(DST):c.16883A>C (p.Asn5628Thr)	667	DST	Uncertain significance	-1	RCV001904004;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56399978	56399978	T	G	56399978	-
NM_001374736.1(DST):c.16859T>C (p.Val5620Ala)	667	DST	Uncertain significance	rs200036988	RCV001296004;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56400002	56400002	A	G	56400002	-
NM_001374736.1(DST):c.16858del (p.Val5620fs)	667	DST	Pathogenic	rs1584328172	RCV000824024;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56400003	56400003	AC	A	6:g.56400003_56400003del	-
NM_001374736.1(DST):c.16858G>A (p.Val5620Met)	667	DST	Uncertain significance	rs371837412	RCV001245651;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56400003	56400003	C	T	6:g.56400003C>T	-
NM_001374736.1(DST):c.16857G>A (p.Met5619Ile)	667	DST	Uncertain significance	-1	RCV002042208;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56400004	56400004	C	T	56400004	-
NM_001374736.1(DST):c.16824C>G (p.Phe5608Leu)	667	DST	Uncertain significance	-1	RCV001361894;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56400037	56400037	G	C	56400037	-
NM_001374736.1(DST):c.16814G>C (p.Cys5605Ser)	667	DST	Uncertain significance	rs1198301994	RCV001240212;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56400047	56400047	C	G	6:g.56400047C>G	-
NM_001374736.1(DST):c.16814G>A (p.Cys5605Tyr)	667	DST	Uncertain significance	-1	RCV001896125;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56400047	56400047	C	T	56400047	-
NM_001374736.1(DST):c.16799A>G (p.Glu5600Gly)	667	DST	Uncertain significance	-1	RCV001870083;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56400062	56400062	T	C	56400062	-
NM_001374736.1(DST):c.16788C>T (p.Ala5596=)	667	DST	Likely benign	-1	RCV001479846;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56400073	56400073	G	A	56400073	-
NM_001374736.1(DST):c.16786G>A (p.Ala5596Thr)	667	DST	Uncertain significance	rs2096973219	RCV001240991;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56400075	56400075	C	T	6:g.56400075C>T	-
NM_001374736.1(DST):c.16781G>A (p.Arg5594Gln)	667	DST	Uncertain significance	rs766153258	RCV001316610;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56400080	56400080	C	T	56400080	-
NM_001374736.1(DST):c.16780C>T (p.Arg5594Ter)	667	DST	Pathogenic	-1	RCV001386390;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56400081	56400081	G	A	56400081	-
NM_001374736.1(DST):c.16772T>C (p.Val5591Ala)	667	DST	Uncertain significance	-1	RCV001937861;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56400089	56400089	A	G	56400089	-
NM_001374736.1(DST):c.16771-11G>A	667	DST	Likely benign	-1	RCV002156484;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56400101	56400101	C	T	56400101	-
NM_001374736.1(DST):c.16770+17del	667	DST	Benign	-1	RCV002127746;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401560	56401560	AG	A	56401559	-
NM_001374736.1(DST):c.16770+11C>T	667	DST	Likely benign	-1	RCV001941663;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56401566	56401566	G	A	56401566	-
NM_001374736.1(DST):c.16770+9C>G	667	DST	Likely benign	-1	RCV002164834;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56401568	56401568	G	C	56401568	-
NM_001374736.1(DST):c.16770+5T>C	667	DST	Uncertain significance	-1	RCV001362114;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401572	56401572	A	G	56401572	-
NM_001374736.1(DST):c.16763A>G (p.Asn5588Ser)	667	DST	Uncertain significance	-1	RCV001366281;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56401584	56401584	T	C	56401584	-
NM_001374736.1(DST):c.16748G>A (p.Arg5583Gln)	667	DST	Uncertain significance	rs762460799	RCV001244751;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401599	56401599	C	T	6:g.56401599C>T	-
NM_001374736.1(DST):c.16747C>T (p.Arg5583Trp)	667	DST	Uncertain significance	rs568055144	RCV001311721\|RCV001248337;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56401600	56401600	G	A	6:g.56401600G>A	-
NM_001374736.1(DST):c.16742A>G (p.Asn5581Ser)	667	DST	Uncertain significance	rs201488187	RCV001243842;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401605	56401605	T	C	6:g.56401605T>C	-
NM_001374736.1(DST):c.16701C>T (p.Ser5567=)	667	DST	Likely benign	-1	RCV001417331;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401646	56401646	G	A	56401646	-
NM_001374736.1(DST):c.16656T>C (p.Asp5552=)	667	DST	Likely benign	-1	RCV001436429;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401691	56401691	A	G	56401691	-
NM_001374736.1(DST):c.16653A>C (p.Gln5551His)	667	DST	Likely benign	-1	RCV002198283;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401694	56401694	T	G	56401694	-
NM_001374736.1(DST):c.16634C>A (p.Pro5545His)	667	DST	Uncertain significance	rs776611722	RCV001312948;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401713	56401713	G	T	56401713	-
NM_001374736.1(DST):c.16609G>T (p.Val5537Leu)	667	DST	Uncertain significance	rs199836343	RCV001243166;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401738	56401738	C	A	6:g.56401738C>A	-
NM_001374736.1(DST):c.16609-1G>T	667	DST	Likely pathogenic	-1	RCV001979595;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56401739	56401739	C	A	56401739	-
NM_001374736.1(DST):c.16609-7A>C	667	DST	Likely benign	-1	RCV001478273;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401745	56401745	T	G	56401745	-
NM_001374736.1(DST):c.16609-14T>C	667	DST	Likely benign	-1	RCV002117534;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56401752	56401752	A	G	56401752	-
NM_001374736.1(DST):c.16608+15A>G	667	DST	Likely benign	-1	RCV002137504;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56416967	56416967	T	C	56416967	-
NM_001374736.1(DST):c.16608+13T>C	667	DST	Benign	-1	RCV002086782;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56416969	56416969	A	G	56416969	-
NM_001374736.1(DST):c.16608+1G>A	667	DST	Likely pathogenic	-1	RCV002026258;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56416981	56416981	C	T	56416981	-
NM_001374736.1(DST):c.16592A>T (p.Gln5531Leu)	667	DST	Uncertain significance	rs756517173	RCV001243368;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56416998	56416998	T	A	6:g.56416998T>A	-
NM_001374736.1(DST):c.16579A>G (p.Thr5527Ala)	667	DST	Uncertain significance	rs1350777647	RCV001320750;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417011	56417011	T	C	56417011	-
NM_001374736.1(DST):c.16575G>A (p.Thr5525=)	667	DST	Benign	rs188035465	RCV000979592;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417015	56417015	C	T	6:g.56417015C>T	-
NM_001374736.1(DST):c.16574C>T (p.Thr5525Met)	667	DST	Uncertain significance	rs756527130	RCV001244421;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417016	56417016	G	A	6:g.56417016G>A	-
NM_001374736.1(DST):c.16572A>G (p.Glu5524=)	667	DST	Likely benign	-1	RCV001400373;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417018	56417018	T	C	56417018	-
NM_001374736.1(DST):c.16565G>A (p.Gly5522Asp)	667	DST	Uncertain significance	-1	RCV001928882;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417025	56417025	C	T	56417025	-
NM_001374736.1(DST):c.16562T>G (p.Val5521Gly)	667	DST	Uncertain significance	rs746708808	RCV000819971;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417028	56417028	A	C	6:g.56417028A>C	-
NM_001374736.1(DST):c.16540C>G (p.His5514Asp)	667	DST	Uncertain significance	-1	RCV001949889;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417050	56417050	G	C	56417050	-
NM_001374736.1(DST):c.16534G>A (p.Glu5512Lys)	667	DST	Uncertain significance	rs375888742	RCV001245162;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417056	56417056	C	T	6:g.56417056C>T	-
NM_001374736.1(DST):c.16533C>T (p.Ala5511=)	667	DST	Likely benign	-1	RCV002156179;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417057	56417057	G	A	56417057	-
NM_001374736.1(DST):c.16498A>C (p.Lys5500Gln)	667	DST	Uncertain significance	-1	RCV002001256;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417092	56417092	T	G	56417092	-
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys)	667	DST	Likely benign	rs180765536	RCV000979078;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417095	56417095	T	A	6:g.56417095T>A	-
NM_001374736.1(DST):c.16478G>A (p.Arg5493His)	667	DST	Uncertain significance	rs754436072	RCV001247704;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417112	56417112	C	T	6:g.56417112C>T	-
NM_001374736.1(DST):c.16477C>T (p.Arg5493Cys)	667	DST	Uncertain significance	rs186499004	RCV001242954;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417113	56417113	G	A	6:g.56417113G>A	-
NM_001374736.1(DST):c.16471A>G (p.Ile5491Val)	667	DST	Uncertain significance	rs754589018	RCV001239512;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417119	56417119	T	C	6:g.56417119T>C	-
NM_001374736.1(DST):c.16465G>A (p.Gly5489Arg)	667	DST	Uncertain significance	-1	RCV001359633;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417125	56417125	C	T	56417125	-
NM_001374736.1(DST):c.16464A>C (p.Glu5488Asp)	667	DST	Uncertain significance	rs2097339072	RCV001241534;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417126	56417126	T	G	6:g.56417126T>G	-
NM_001374736.1(DST):c.16435C>T (p.Arg5479Ter)	667	DST	Pathogenic	-1	RCV001918214;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417155	56417155	G	A	56417155	-
NM_001374736.1(DST):c.16409G>A (p.Ser5470Asn)	667	DST	Uncertain significance	-1	RCV002047389;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417181	56417181	C	T	56417181	-
NM_001374736.1(DST):c.16401G>A (p.Glu5467=)	667	DST	Likely benign	-1	RCV001490266;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417189	56417189	C	T	56417189	-
NM_001374736.1(DST):c.16398G>A (p.Leu5466=)	667	DST	Benign	-1	RCV001514394\|RCV001712921;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56417192	56417192	C	T	56417192	-
NM_001374736.1(DST):c.16392G>A (p.Arg5464=)	667	DST	Likely benign	-1	RCV001493593;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417198	56417198	C	T	56417198	-
NM_001374736.1(DST):c.16377T>C (p.Leu5459=)	667	DST	Likely benign	-1	RCV001484815;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417213	56417213	A	G	56417213	-
NM_001374736.1(DST):c.16365C>T (p.Thr5455=)	667	DST	Likely benign	-1	RCV001418541;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417225	56417225	G	A	56417225	-
NM_001374736.1(DST):c.16363A>T (p.Thr5455Ser)	667	DST	Uncertain significance	rs1348429203	RCV001242565;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417227	56417227	T	A	6:g.56417227T>A	-
NM_001374736.1(DST):c.16342A>G (p.Met5448Val)	667	DST	Uncertain significance	rs202185251	RCV001248188;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417248	56417248	T	C	6:g.56417248T>C	-
NM_001374736.1(DST):c.16328A>G (p.Asn5443Ser)	667	DST	Uncertain significance	-1	RCV002038304;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417262	56417262	T	C	56417262	-
NM_001374736.1(DST):c.16324G>A (p.Ala5442Thr)	667	DST	Uncertain significance	-1	RCV001359110;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417266	56417266	C	T	56417266	-
NM_001374736.1(DST):c.16323T>C (p.Asn5441=)	667	DST	Benign	-1	RCV001521193;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417267	56417267	A	G	56417267	-
NM_001374736.1(DST):c.16314C>G (p.Ser5438Arg)	667	DST	Uncertain significance	rs750722953	RCV001323598;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417276	56417276	G	C	56417276	-
NM_001374736.1(DST):c.16308G>A (p.Met5436Ile)	667	DST	Benign	rs4715630	RCV000603185\|RCV001510448\|RCV001692226\|RCV001662662\|RCV001701394;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154	6	56417282	56417282	C	T	6:g.56417282C>T	ClinGen:CA3867697	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.16306A>T (p.Met5436Leu)	667	DST	Uncertain significance	-1	RCV001363291;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417284	56417284	T	A	56417284	-
NM_001374736.1(DST):c.16306A>C (p.Met5436Leu)	667	DST	Uncertain significance	-1	RCV001986467;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417284	56417284	T	G	56417284	-
NM_001374736.1(DST):c.16304T>C (p.Leu5435Pro)	667	DST	Uncertain significance	-1	RCV001996814;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417286	56417286	A	G	56417286	-
NM_001374736.1(DST):c.16298A>G (p.Glu5433Gly)	667	DST	Uncertain significance	rs1275382438	RCV001348816;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417292	56417292	T	C	56417292	-
NM_001374736.1(DST):c.16236G>A (p.Gly5412=)	667	DST	Likely benign	-1	RCV001392407;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417354	56417354	C	T	56417354	-
NM_001374736.1(DST):c.16235G>A (p.Gly5412Glu)	667	DST	Uncertain significance	rs775546048	RCV001320133;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417355	56417355	C	T	56417355	-
NM_001374736.1(DST):c.16233G>C (p.Val5411=)	667	DST	Likely benign	-1	RCV001481965;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417357	56417357	C	G	56417357	-
NM_001374736.1(DST):c.16221C>A (p.Ser5407Arg)	667	DST	Uncertain significance	-1	RCV001369577;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417369	56417369	G	T	56417369	-
NM_001374736.1(DST):c.16195G>A (p.Ala5399Thr)	667	DST	Uncertain significance	rs553940584	RCV001245229;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417395	56417395	C	T	6:g.56417395C>T	-
NM_001374736.1(DST):c.16195G>T (p.Ala5399Ser)	667	DST	Uncertain significance	rs553940584	RCV001349226;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417395	56417395	C	A	56417395	-
NM_001374736.1(DST):c.16194C>T (p.Phe5398=)	667	DST	Likely benign	-1	RCV001483486;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417396	56417396	G	A	56417396	-
NM_001374736.1(DST):c.16179A>G (p.Glu5393=)	667	DST	Likely benign	-1	RCV002103722;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417411	56417411	T	C	56417411	-
NM_001374736.1(DST):c.16175G>A (p.Arg5392Gln)	667	DST	Uncertain significance	rs201501487	RCV001245025;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417415	56417415	C	T	6:g.56417415C>T	-
NM_001374736.1(DST):c.16174C>G (p.Arg5392Gly)	667	DST	Uncertain significance	rs755738894	RCV001246992;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417416	56417416	G	C	6:g.56417416G>C	-
NM_001374736.1(DST):c.16174C>T (p.Arg5392Ter)	667	DST	Pathogenic	-1	RCV001950928;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417416	56417416	G	A	56417416	-
NM_001374736.1(DST):c.16169C>T (p.Thr5390Ile)	667	DST	Uncertain significance	-1	RCV001962446;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417421	56417421	G	A	56417421	-
NM_001374736.1(DST):c.16148G>A (p.Gly5383Asp)	667	DST	Uncertain significance	rs1489999843	RCV001320078;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417442	56417442	C	T	56417442	-
NM_001374736.1(DST):c.16116A>G (p.Glu5372=)	667	DST	Likely benign	-1	RCV002210567;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417474	56417474	T	C	56417474	-
NM_001374736.1(DST):c.16088A>G (p.His5363Arg)	667	DST	Uncertain significance	-1	RCV001992856;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417502	56417502	T	C	56417502	-
NM_001374736.1(DST):c.16078G>A (p.Ala5360Thr)	667	DST	Uncertain significance	rs779849952	RCV001245916;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417512	56417512	C	T	6:g.56417512C>T	-
NM_001374736.1(DST):c.16070A>G (p.Glu5357Gly)	667	DST	Uncertain significance	-1	RCV002008241;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417520	56417520	T	C	56417520	-
NM_001374736.1(DST):c.16065A>G (p.Gln5355=)	667	DST	Likely benign	-1	RCV001469378;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417525	56417525	T	C	56417525	-
NM_001374736.1(DST):c.16059A>T (p.Leu5353Phe)	667	DST	Uncertain significance	-1	RCV001892887;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417531	56417531	T	A	56417531	-
NM_001374736.1(DST):c.16052A>C (p.Asp5351Ala)	667	DST	Uncertain significance	rs1287393894	RCV001245368;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417538	56417538	T	G	6:g.56417538T>G	-
NM_001374736.1(DST):c.16047C>G (p.Thr5349=)	667	DST	Likely benign	rs370841140	RCV000979752\|RCV001726403;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56417543	56417543	G	C	6:g.56417543G>C	-
NM_001374736.1(DST):c.16045A>G (p.Thr5349Ala)	667	DST	Benign	rs4715631	RCV000608135\|RCV001510449\|RCV001662663\|RCV001692227\|RCV001701395;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121	6	56417545	56417545	T	C	NC_000006.11:g.56417545T>C	ClinGen:CA3867736	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.16034A>G (p.Asp5345Gly)	667	DST	Uncertain significance	rs749976441	RCV001245721;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417556	56417556	T	C	6:g.56417556T>C	-
NM_001374736.1(DST):c.16008A>C (p.Ala5336=)	667	DST	Likely benign	-1	RCV001502908;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417582	56417582	T	G	56417582	-
NM_001374736.1(DST):c.15941T>G (p.Met5314Arg)	667	DST	Uncertain significance	rs1325893287	RCV001313692;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417649	56417649	A	C	56417649	-
NM_001374736.1(DST):c.15903G>T (p.Ser5301=)	667	DST	Likely benign	-1	RCV001417144;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417687	56417687	C	A	56417687	-
NM_001374736.1(DST):c.15903G>A (p.Ser5301=)	667	DST	Likely benign	-1	RCV001443655;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417687	56417687	C	T	56417687	-
NM_001374736.1(DST):c.15902C>T (p.Ser5301Leu)	667	DST	Uncertain significance	rs112177059	RCV000488374\|RCV001243783;	N	MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417688	56417688	G	A	6:g.56417688G>A	ClinGen:CA3867760	CN517202 not provided;
NM_001374736.1(DST):c.15898G>A (p.Asp5300Asn)	667	DST	Uncertain significance	rs200661658	RCV001298258;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417692	56417692	C	T	56417692	-
NM_001374736.1(DST):c.15897T>C (p.His5299=)	667	DST	Likely benign	-1	RCV001451341;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417693	56417693	A	G	56417693	-
NM_001374736.1(DST):c.15888A>G (p.Leu5296=)	667	DST	Likely benign	-1	RCV001431514;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417702	56417702	T	C	56417702	-
NM_001374736.1(DST):c.15880G>A (p.Glu5294Lys)	667	DST	Uncertain significance	-1	RCV001871245;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417710	56417710	C	T	56417710	-
NM_001374736.1(DST):c.15877A>G (p.Lys5293Glu)	667	DST	Uncertain significance	rs888556461	RCV001241123;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417713	56417713	T	C	6:g.56417713T>C	-
NM_001374736.1(DST):c.15872G>A (p.Cys5291Tyr)	667	DST	Uncertain significance	-1	RCV001940068;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417718	56417718	C	T	56417718	-
NM_001374736.1(DST):c.15861G>A (p.Arg5287=)	667	DST	Benign	rs58928900	RCV000979007\|RCV001712830;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56417729	56417729	C	T	6:g.56417729C>T	-
NM_001374736.1(DST):c.15854C>T (p.Ser5285Phe)	667	DST	Uncertain significance	-1	RCV001918544;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417736	56417736	G	A	56417736	-
NM_001374736.1(DST):c.15836AAG[1] (p.Glu5280del)	667	DST	Uncertain significance	rs1233181836	RCV001243843;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417749	56417751	ACTT	A	6:g.56417749_56417751del	-
NM_001374736.1(DST):c.15836A>G (p.Gln5279Arg)	667	DST	Uncertain significance	-1	RCV001928532;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417754	56417754	T	C	56417754	-
NM_001374736.1(DST):c.15825T>C (p.Phe5275=)	667	DST	Likely benign	-1	RCV001405650;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417765	56417765	A	G	56417765	-
NM_001374736.1(DST):c.15804G>A (p.Leu5268=)	667	DST	Likely benign	-1	RCV001395643;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417786	56417786	C	T	56417786	-
NM_001374736.1(DST):c.15788G>A (p.Ser5263Asn)	667	DST	Uncertain significance	rs374575683	RCV001247836\|RCV001508545;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56417802	56417802	C	T	6:g.56417802C>T	-
NM_001374736.1(DST):c.15784C>T (p.His5262Tyr)	667	DST	Uncertain significance	-1	RCV001928890;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417806	56417806	G	A	56417806	-
NM_001374736.1(DST):c.15781C>A (p.Leu5261Ile)	667	DST	Uncertain significance	rs762522099	RCV001240405;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417809	56417809	G	T	6:g.56417809G>T	-
NM_001374736.1(DST):c.15766A>G (p.Met5256Val)	667	DST	Uncertain significance	-1	RCV002041785;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417824	56417824	T	C	56417824	-
NM_001374736.1(DST):c.15765C>T (p.Asp5255=)	667	DST	Likely benign	-1	RCV001467258;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417825	56417825	G	A	56417825	-
NM_001374736.1(DST):c.15734A>T (p.Asp5245Val)	667	DST	Uncertain significance	rs1248294838	RCV001348840;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417856	56417856	T	A	56417856	-
NM_001374736.1(DST):c.15714A>G (p.Ile5238Met)	667	DST	Uncertain significance	-1	RCV002030640;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417876	56417876	T	C	56417876	-
NM_001374736.1(DST):c.15711G>A (p.Glu5237=)	667	DST	Likely benign	-1	RCV001433295;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417879	56417879	C	T	56417879	-
NM_001374736.1(DST):c.15709G>A (p.Glu5237Lys)	667	DST	Uncertain significance	rs2097347589	RCV001245230;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417881	56417881	C	T	6:g.56417881C>T	-
NM_001374736.1(DST):c.15699C>T (p.Leu5233=)	667	DST	Likely benign	-1	RCV002209358;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417891	56417891	G	A	56417891	-
NM_001374736.1(DST):c.15696G>A (p.Leu5232=)	667	DST	Likely benign	-1	RCV001413182;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417894	56417894	C	T	56417894	-
NM_001374736.1(DST):c.15690T>C (p.Asn5230=)	667	DST	Likely benign	-1	RCV002163198;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417900	56417900	A	G	56417900	-
NM_001374736.1(DST):c.15670T>G (p.Leu5224Val)	667	DST	Uncertain significance	rs2097348097	RCV001241252;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417920	56417920	A	C	6:g.56417920A>C	-
NM_001374736.1(DST):c.15653A>C (p.His5218Pro)	667	DST	Uncertain significance	rs2097348376	RCV001247903;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56417937	56417937	T	G	6:g.56417937T>G	-
NM_001374736.1(DST):c.15624A>G (p.Leu5208=)	667	DST	Likely benign	-1	RCV002159430;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417966	56417966	T	C	56417966	-
NM_001374736.1(DST):c.15602G>C (p.Gly5201Ala)	667	DST	Uncertain significance	rs763915802	RCV001248339;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56417988	56417988	C	G	6:g.56417988C>G	-
NM_001374736.1(DST):c.15586T>C (p.Leu5196=)	667	DST	Benign	rs200133509	RCV000979015;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418004	56418004	A	G	6:g.56418004A>G	-
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr)	667	DST	Benign	rs57472891	RCV000979008\|RCV001692330;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56418006	56418006	C	T	6:g.56418006C>T	-
NM_001374736.1(DST):c.15570G>A (p.Glu5190=)	667	DST	Benign	rs200941177	RCV000979013;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418020	56418020	C	T	6:g.56418020C>T	-
NM_001374736.1(DST):c.15564C>T (p.Asn5188=)	667	DST	Likely benign	-1	RCV001414096;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418026	56418026	G	A	56418026	-
NM_001374736.1(DST):c.15540A>G (p.Pro5180=)	667	DST	Likely benign	-1	RCV002090868;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418050	56418050	T	C	56418050	-
NM_001374736.1(DST):c.15534C>T (p.Leu5178=)	667	DST	Likely benign	-1	RCV002167677;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418056	56418056	G	A	56418056	-
NM_001374736.1(DST):c.15528G>T (p.Glu5176Asp)	667	DST	Uncertain significance	-1	RCV001365638;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418062	56418062	C	A	56418062	-
NM_001374736.1(DST):c.15526G>C (p.Glu5176Gln)	667	DST	Uncertain significance	rs770419341	RCV001244481;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418064	56418064	C	G	6:g.56418064C>G	-
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp)	667	DST	Uncertain significance	-1	RCV001911550;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418101	56418101	C	G	56418101	-
NM_001374736.1(DST):c.15486A>G (p.Lys5162=)	667	DST	Likely benign	rs1584777193	RCV000983179;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418104	56418104	T	C	6:g.56418104T>C	-
NM_001374736.1(DST):c.15465A>G (p.Lys5155=)	667	DST	Likely benign	-1	RCV002102783;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418125	56418125	T	C	56418125	-
NM_001374736.1(DST):c.15446C>T (p.Thr5149Ile)	667	DST	Uncertain significance	rs369194519	RCV001245233;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418144	56418144	G	A	6:g.56418144G>A	-
NM_001374736.1(DST):c.15426A>G (p.Thr5142=)	667	DST	Likely benign	rs767246314	RCV000981895;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418164	56418164	T	C	6:g.56418164T>C	-
NM_001374736.1(DST):c.15406T>G (p.Leu5136Val)	667	DST	Uncertain significance	rs750727762	RCV001327634;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418184	56418184	A	C	56418184	-
NM_001374736.1(DST):c.15398A>G (p.Lys5133Arg)	667	DST	Uncertain significance	-1	RCV001901028;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418192	56418192	T	C	56418192	-
NM_001374736.1(DST):c.15376T>C (p.Leu5126=)	667	DST	Likely benign	-1	RCV001492401;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418214	56418214	A	G	56418214	-
NM_001374736.1(DST):c.15360del (p.Gly5121fs)	667	DST	Pathogenic	-1	RCV001872177;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418230	56418230	CT	C	56418229	-
NM_001374736.1(DST):c.15356C>T (p.Ala5119Val)	667	DST	Uncertain significance	-1	RCV001887817;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418234	56418234	G	A	56418234	-
NM_001374736.1(DST):c.15353T>C (p.Ile5118Thr)	667	DST	Uncertain significance	-1	RCV001914752;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418237	56418237	A	G	56418237	-
NM_001374736.1(DST):c.15341A>G (p.Tyr5114Cys)	667	DST	Uncertain significance	rs866453035	RCV001245719;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418249	56418249	T	C	6:g.56418249T>C	-
NM_001374736.1(DST):c.15334C>A (p.His5112Asn)	667	DST	Uncertain significance	rs2097351978	RCV001239996;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418256	56418256	G	T	6:g.56418256G>T	-
NM_001374736.1(DST):c.15327T>C (p.Ala5109=)	667	DST	Likely benign	-1	RCV001467256;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418263	56418263	A	G	56418263	-
NM_001374736.1(DST):c.15327T>A (p.Ala5109=)	667	DST	Likely benign	-1	RCV002090228;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418263	56418263	A	T	56418263	-
NM_001374736.1(DST):c.15310A>G (p.Ser5104Gly)	667	DST	Uncertain significance	-1	RCV001922548;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418280	56418280	T	C	56418280	-
NM_001374736.1(DST):c.15309T>A (p.Phe5103Leu)	667	DST	Uncertain significance	rs191081991	RCV000625440\|RCV000998632\|RCV001240921;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418281	56418281	A	T	6:g.56418281A>T	ClinGen:CA3867837	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.15308T>C (p.Phe5103Ser)	667	DST	Uncertain significance	-1	RCV001899540;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418282	56418282	A	G	56418282	-
NM_001374736.1(DST):c.15300T>A (p.His5100Gln)	667	DST	Uncertain significance	-1	RCV001362112;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418290	56418290	A	T	56418290	-
NM_001374736.1(DST):c.15299A>G (p.His5100Arg)	667	DST	Uncertain significance	-1	RCV001939767;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418291	56418291	T	C	56418291	-
NM_001374736.1(DST):c.15271G>A (p.Asp5091Asn)	667	DST	Uncertain significance	rs148831744	RCV001239511\|RCV001810003;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418319	56418319	C	T	6:g.56418319C>T	-
NM_001374736.1(DST):c.15262G>A (p.Ala5088Thr)	667	DST	Uncertain significance	rs2097352781	RCV001248042;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418328	56418328	C	T	6:g.56418328C>T	-
NM_001374736.1(DST):c.15242A>T (p.Asn5081Ile)	667	DST	Uncertain significance	rs537433450	RCV001248469;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418348	56418348	T	A	6:g.56418348T>A	-
NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter)	667	DST	Pathogenic/Likely pathogenic	rs893650971	RCV000521976\|RCV001244880;	N	MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418374	56418374	C	T	6:g.56418374C>T	ClinGen:CA364517866	CN517202 not provided;
NM_001374736.1(DST):c.15216G>C (p.Trp5072Cys)	667	DST	Uncertain significance	-1	RCV001945821;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418374	56418374	C	G	56418374	-
NM_001374736.1(DST):c.15203A>T (p.Asp5068Val)	667	DST	Uncertain significance	rs2097353414	RCV001299644;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418387	56418387	T	A	56418387	-
NM_001374736.1(DST):c.15199A>G (p.Arg5067Gly)	667	DST	Uncertain significance	rs768224900	RCV001246393;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418391	56418391	T	C	6:g.56418391T>C	-
NM_001374736.1(DST):c.15191A>G (p.Gln5064Arg)	667	DST	Benign/Likely benign	rs143438011	RCV000979026\|RCV001766802;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56418399	56418399	T	C	6:g.56418399T>C	-
NM_001374736.1(DST):c.15174C>T (p.Ser5058=)	667	DST	Benign	-1	RCV001517026;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418416	56418416	G	A	56418416	-
NM_001374736.1(DST):c.15170C>T (p.Ala5057Val)	667	DST	Uncertain significance	-1	RCV001990280;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418420	56418420	G	A	56418420	-
NM_001374736.1(DST):c.15163G>A (p.Ala5055Thr)	667	DST	Uncertain significance	-1	RCV001998528;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418427	56418427	C	T	56418427	-
NM_001374736.1(DST):c.15162G>A (p.Ser5054=)	667	DST	Likely benign	-1	RCV002116742;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418428	56418428	C	T	56418428	-
NM_001374736.1(DST):c.15161C>T (p.Ser5054Leu)	667	DST	Uncertain significance	-1	RCV001880947;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56418429	56418429	G	A	56418429	-
NM_001374736.1(DST):c.15159G>T (p.Gln5053His)	667	DST	Uncertain significance	-1	RCV001904969;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418431	56418431	C	A	56418431	-
NM_001374736.1(DST):c.15147C>G (p.Val5049=)	667	DST	Likely benign	-1	RCV002179175;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418443	56418443	G	C	56418443	-
NM_001374736.1(DST):c.15143A>T (p.His5048Leu)	667	DST	Uncertain significance	-1	RCV002022293;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56418447	56418447	T	A	56418447	-
NM_001374736.1(DST):c.15121G>A (p.Val5041Ile)	667	DST	Benign	-1	RCV001510456\|RCV001685372;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56420158	56420158	C	T	56420158	-
NM_001374736.1(DST):c.15092T>A (p.Leu5031Gln)	667	DST	Uncertain significance	-1	RCV001363050;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420187	56420187	A	T	56420187	-
NM_001374736.1(DST):c.15085A>G (p.Arg5029Gly)	667	DST	Uncertain significance	rs2097397900	RCV001246126;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420194	56420194	T	C	6:g.56420194T>C	-
NM_001374736.1(DST):c.15083G>A (p.Ser5028Asn)	667	DST	Uncertain significance	-1	RCV001950543;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420196	56420196	C	T	56420196	-
NM_001374736.1(DST):c.15057A>C (p.Lys5019Asn)	667	DST	Uncertain significance	rs952108992	RCV001246993;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420222	56420222	T	G	6:g.56420222T>G	-
NM_001374736.1(DST):c.15028C>G (p.Leu5010Val)	667	DST	Uncertain significance	-1	RCV001889385;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420251	56420251	G	C	56420251	-
NM_001374736.1(DST):c.15004A>C (p.Lys5002Gln)	667	DST	Likely benign	-1	RCV001484809;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420275	56420275	T	G	56420275	-
NM_001374736.1(DST):c.14972A>C (p.Gln4991Pro)	667	DST	Uncertain significance	rs2097399604	RCV001239100;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420307	56420307	T	G	6:g.56420307T>G	-
NM_001374736.1(DST):c.14959T>C (p.Leu4987=)	667	DST	Benign	rs78470764	RCV000979576;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420320	56420320	A	G	6:g.56420320A>G	-
NM_001374736.1(DST):c.14952C>T (p.Asn4984=)	667	DST	Likely benign	-1	RCV002099271;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420327	56420327	G	A	56420327	-
NM_001374736.1(DST):c.14951A>G (p.Asn4984Ser)	667	DST	Uncertain significance	rs751619980	RCV001246729;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420328	56420328	T	C	6:g.56420328T>C	-
NM_001374736.1(DST):c.14947A>G (p.Met4983Val)	667	DST	Uncertain significance	rs188156383	RCV001246730;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420332	56420332	T	C	6:g.56420332T>C	-
NM_001374736.1(DST):c.14947A>C (p.Met4983Leu)	667	DST	Uncertain significance	rs188156383	RCV001248470;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420332	56420332	T	G	6:g.56420332T>G	-
NM_001374736.1(DST):c.14944G>A (p.Ala4982Thr)	667	DST	Uncertain significance	-1	RCV001884821;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420335	56420335	C	T	56420335	-
NM_001374736.1(DST):c.14937C>T (p.His4979=)	667	DST	Likely benign	-1	RCV001488166;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420342	56420342	G	A	56420342	-
NM_001374736.1(DST):c.14936A>G (p.His4979Arg)	667	DST	Uncertain significance	rs763236400	RCV001244360;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420343	56420343	T	C	6:g.56420343T>C	-
NM_001374736.1(DST):c.14934G>A (p.Thr4978=)	667	DST	Likely benign	-1	RCV001413657;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420345	56420345	C	T	56420345	-
NM_001374736.1(DST):c.14933C>T (p.Thr4978Met)	667	DST	Uncertain significance	rs202121891	RCV001245166;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420346	56420346	G	A	6:g.56420346G>A	-
NM_001374736.1(DST):c.14880T>C (p.Ser4960=)	667	DST	Likely benign	-1	RCV001466429;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420399	56420399	A	G	56420399	-
NM_001374736.1(DST):c.14874C>A (p.Ser4958Arg)	667	DST	Uncertain significance	rs746641066	RCV001243635;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420405	56420405	G	T	6:g.56420405G>T	-
NM_001374736.1(DST):c.14874C>G (p.Ser4958Arg)	667	DST	Uncertain significance	-1	RCV001984644;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420405	56420405	G	C	56420405	-
NM_001374736.1(DST):c.14861G>A (p.Ser4954Asn)	667	DST	Uncertain significance	rs1360966681	RCV001322234;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420418	56420418	C	T	56420418	-
NM_001374736.1(DST):c.14815T>G (p.Cys4939Gly)	667	DST	Uncertain significance	-1	RCV001986697;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420464	56420464	A	C	56420464	-
NM_001374736.1(DST):c.14800C>A (p.Gln4934Lys)	667	DST	Uncertain significance	rs199936602	RCV001241612;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420479	56420479	G	T	6:g.56420479G>T	-
NM_001374736.1(DST):c.14772G>A (p.Val4924=)	667	DST	Likely benign	-1	RCV001409186;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420507	56420507	C	T	56420507	-
NM_001374736.1(DST):c.14741G>A (p.Arg4914His)	667	DST	Benign	-1	RCV001510453\|RCV001664909\|RCV001664908\|RCV001655738;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143	6	56420538	56420538	C	T	56420538	-
NM_001374736.1(DST):c.14735C>T (p.Ser4912Phe)	667	DST	Uncertain significance	-1	RCV002025755;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420544	56420544	G	A	56420544	-
NM_001374736.1(DST):c.14731C>A (p.Pro4911Thr)	667	DST	Uncertain significance	rs201412680	RCV001324123\|RCV001332914\|RCV001508546;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56420548	56420548	G	T	56420548	-
NM_001374736.1(DST):c.14726A>G (p.Glu4909Gly)	667	DST	Uncertain significance	-1	RCV001895320;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420553	56420553	T	C	56420553	-
NM_001374736.1(DST):c.14725G>A (p.Glu4909Lys)	667	DST	Uncertain significance	-1	RCV001967637;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420554	56420554	C	T	56420554	-
NM_001374736.1(DST):c.14718G>A (p.Arg4906=)	667	DST	Likely benign	-1	RCV001416915;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420561	56420561	C	T	56420561	-
NM_001374736.1(DST):c.14709T>A (p.Ile4903=)	667	DST	Likely benign	-1	RCV001414085;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420570	56420570	A	T	56420570	-
NM_001374736.1(DST):c.14688G>A (p.Leu4896=)	667	DST	Likely benign	-1	RCV001429271;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420591	56420591	C	T	56420591	-
NM_001374736.1(DST):c.14686C>T (p.Leu4896=)	667	DST	Likely benign	-1	RCV001506000;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420593	56420593	G	A	56420593	-
NM_001374736.1(DST):c.14675A>G (p.Gln4892Arg)	667	DST	Uncertain significance	-1	RCV002033419;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420604	56420604	T	C	56420604	-
NM_001374736.1(DST):c.14661C>T (p.Ala4887=)	667	DST	Likely benign	-1	RCV001479222;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420618	56420618	G	A	56420618	-
NM_001374736.1(DST):c.14655A>G (p.Glu4885=)	667	DST	Likely benign	-1	RCV001396875;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420624	56420624	T	C	56420624	-
NM_001374736.1(DST):c.14646G>A (p.Leu4882=)	667	DST	Likely benign	-1	RCV001437872;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420633	56420633	C	T	56420633	-
NM_001374736.1(DST):c.14641-4T>G	667	DST	Likely benign	-1	RCV001398506;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56420642	56420642	A	C	56420642	-
NM_001374736.1(DST):c.14641-4T>C	667	DST	Likely benign	-1	RCV001436024;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56420642	56420642	A	G	56420642	-
NM_001374736.1(DST):c.14640+19C>T	667	DST	Likely benign	-1	RCV002137845;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422098	56422098	G	A	56422098	-
NM_001374736.1(DST):c.14640+8T>G	667	DST	Likely benign	-1	RCV002124131;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56422109	56422109	A	C	56422109	-
NM_001374736.1(DST):c.14640+5G>A	667	DST	Uncertain significance	rs2097441805	RCV001243499;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56422112	56422112	C	T	6:g.56422112C>T	-
NM_001374736.1(DST):c.14637G>A (p.Val4879=)	667	DST	Uncertain significance	rs765614214	RCV001303200;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56422120	56422120	C	T	56422120	-
NM_001374736.1(DST):c.14636T>G (p.Val4879Gly)	667	DST	Uncertain significance	rs2097442163	RCV001316549;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422121	56422121	A	C	56422121	-
NM_001374736.1(DST):c.14601T>A (p.Ile4867=)	667	DST	Uncertain significance	-1	RCV001893559;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56422156	56422156	A	T	56422156	-
NM_001374736.1(DST):c.14592C>T (p.Pro4864=)	667	DST	Likely benign	-1	RCV001457665;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422165	56422165	G	A	56422165	-
NM_001374736.1(DST):c.14574G>A (p.Met4858Ile)	667	DST	Uncertain significance	-1	RCV001934503;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422183	56422183	C	T	56422183	-
NM_001374736.1(DST):c.14542T>C (p.Leu4848=)	667	DST	Likely benign	-1	RCV001462729;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422215	56422215	A	G	56422215	-
NM_001374736.1(DST):c.14541A>G (p.Gln4847=)	667	DST	Benign	-1	RCV001514397\|RCV001655749;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56422216	56422216	T	C	56422216	-
NM_001374736.1(DST):c.14532A>G (p.Val4844=)	667	DST	Likely benign	-1	RCV002156006;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422225	56422225	T	C	56422225	-
NM_001374736.1(DST):c.14530G>A (p.Val4844Ile)	667	DST	Uncertain significance	-1	RCV001939733;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422227	56422227	C	T	56422227	-
NM_001374736.1(DST):c.14515A>G (p.Thr4839Ala)	667	DST	Uncertain significance	rs371655301	RCV001239102;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422242	56422242	T	C	6:g.56422242T>C	-
NM_001374736.1(DST):c.14510A>G (p.Asn4837Ser)	667	DST	Uncertain significance	rs1202507145	RCV001246395;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56422247	56422247	T	C	6:g.56422247T>C	-
NM_001374736.1(DST):c.14505C>T (p.Ser4835=)	667	DST	Likely benign	-1	RCV002178404;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56422252	56422252	G	A	56422252	-
NM_001374736.1(DST):c.14501C>A (p.Ser4834Tyr)	667	DST	Uncertain significance	rs1290750029	RCV001248531;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422256	56422256	G	T	6:g.56422256G>T	-
NM_001374736.1(DST):c.14495A>G (p.Glu4832Gly)	667	DST	Conflicting interpretations of pathogenicity	rs201437391	RCV000998633\|RCV001452152;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422262	56422262	T	C	6:g.56422262T>C	-
NM_001374736.1(DST):c.14461A>C (p.Asn4821His)	667	DST	Benign	rs139089184	RCV000982198;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422296	56422296	T	G	6:g.56422296T>G	-
NM_001374736.1(DST):c.14452C>G (p.Gln4818Glu)	667	DST	Uncertain significance	-1	RCV002015749;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422305	56422305	G	C	56422305	-
NM_001374736.1(DST):c.14441-7_14441-6del	667	DST	Likely benign	-1	RCV001410504;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56422322	56422323	AAG	A	56422321	-
NM_001374736.1(DST):c.14441-7C>T	667	DST	Likely benign	-1	RCV001493169\|RCV001815567;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56422323	56422323	G	A	56422323	-
NM_001374736.1(DST):c.14441-7del	667	DST	Benign/Likely benign	-1	RCV001510457\|RCV001732194;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56422323	56422323	AG	A	56422322	-
NM_001374736.1(DST):c.14441-10T>C	667	DST	Likely benign	-1	RCV001431544;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56422326	56422326	A	G	56422326	-
NM_001374736.1(DST):c.14440+15T>G	667	DST	Likely benign	-1	RCV002194388;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425077	56425077	A	C	56425077	-
NM_001374736.1(DST):c.14440+10G>A	667	DST	Likely benign	rs375501871	RCV000979880;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425082	56425082	C	T	6:g.56425082C>T	-
NM_001374736.1(DST):c.14440+9C>T	667	DST	Likely benign	-1	RCV001483485;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425083	56425083	G	A	56425083	-
NM_001374736.1(DST):c.14440+8G>A	667	DST	Likely benign	-1	RCV001457073;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425084	56425084	C	T	56425084	-
NM_001374736.1(DST):c.14440G>A (p.Asp4814Asn)	667	DST	Likely benign	-1	RCV001501061;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425092	56425092	C	T	56425092	-
NM_001374736.1(DST):c.14439A>G (p.Ile4813Met)	667	DST	Uncertain significance	rs373340565	RCV000817186;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425093	56425093	T	C	6:g.56425093T>C	-
NM_001374736.1(DST):c.14434G>C (p.Glu4812Gln)	667	DST	Uncertain significance	rs779944990	RCV001346120;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425098	56425098	C	G	56425098	-
NM_001374736.1(DST):c.14424G>T (p.Gln4808His)	667	DST	Uncertain significance	-1	RCV001365668;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425108	56425108	C	A	56425108	-
NM_001374736.1(DST):c.14418G>C (p.Trp4806Cys)	667	DST	Uncertain significance	rs2097517609	RCV001296252;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425114	56425114	C	G	56425114	-
NM_001374736.1(DST):c.14415A>T (p.Arg4805Ser)	667	DST	Uncertain significance	-1	RCV001991441;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425117	56425117	T	A	56425117	-
NM_001374736.1(DST):c.14412C>T (p.Pro4804=)	667	DST	Likely benign	-1	RCV001393430;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425120	56425120	G	A	56425120	-
NM_001374736.1(DST):c.14410C>T (p.Pro4804Ser)	667	DST	Uncertain significance	rs368820405	RCV000823210;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425122	56425122	G	A	6:g.56425122G>A	-
NM_001374736.1(DST):c.14407G>A (p.Ala4803Thr)	667	DST	Uncertain significance	rs773639256	RCV001246127;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425125	56425125	C	T	6:g.56425125C>T	-
NM_001374736.1(DST):c.14399C>A (p.Thr4800Asn)	667	DST	Uncertain significance	-1	RCV001899169;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425133	56425133	G	T	56425133	-
NM_001374736.1(DST):c.14392C>T (p.Pro4798Ser)	667	DST	Uncertain significance	rs372505269	RCV001243295;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425140	56425140	G	A	6:g.56425140G>A	-
NM_001374736.1(DST):c.14381T>C (p.Leu4794Ser)	667	DST	Uncertain significance	rs2097518193	RCV001246198;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425151	56425151	A	G	6:g.56425151A>G	-
NM_001374736.1(DST):c.14375A>C (p.Glu4792Ala)	667	DST	Uncertain significance	-1	RCV001989201;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425157	56425157	T	G	56425157	-
NM_001374736.1(DST):c.14367A>G (p.Lys4789=)	667	DST	Likely benign	-1	RCV002130531;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425165	56425165	T	C	56425165	-
NM_001374736.1(DST):c.14360A>C (p.Lys4787Thr)	667	DST	Uncertain significance	-1	RCV001907388;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425172	56425172	T	G	56425172	-
NM_001374736.1(DST):c.14346A>C (p.Lys4782Asn)	667	DST	Uncertain significance	-1	RCV001997520;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425186	56425186	T	G	56425186	-
NM_001374736.1(DST):c.14328G>A (p.Leu4776=)	667	DST	Likely benign	-1	RCV001405654;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425204	56425204	C	T	56425204	-
NM_001374736.1(DST):c.14313G>A (p.Ser4771=)	667	DST	Benign	rs113998459	RCV000981882;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425219	56425219	C	T	6:g.56425219C>T	-
NM_001374736.1(DST):c.14312C>T (p.Ser4771Leu)	667	DST	Benign	rs62619760	RCV000979029;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56425220	56425220	G	A	6:g.56425220G>A	-
NM_001374736.1(DST):c.14311-19A>G	667	DST	Benign	-1	RCV002106632;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425240	56425240	T	C	56425240	-
NM_001374736.1(DST):c.14311-20T>G	667	DST	Likely benign	-1	RCV002096594;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56425241	56425241	A	C	56425241	-
NM_001374736.1(DST):c.14310+19C>T	667	DST	Likely benign	-1	RCV002109156;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426087	56426087	G	A	56426087	-
NM_001374736.1(DST):c.14297T>C (p.Val4766Ala)	667	DST	Uncertain significance	rs368555516	RCV001299272;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426119	56426119	A	G	56426119	-
NM_001374736.1(DST):c.14291C>T (p.Thr4764Ile)	667	DST	Uncertain significance	rs1664409134	RCV001239590;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426125	56426125	G	A	6:g.56426125G>A	-
NM_001374736.1(DST):c.14274T>C (p.Asp4758=)	667	DST	Likely benign	-1	RCV001505472;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426142	56426142	A	G	56426142	-
NM_001374736.1(DST):c.14264C>G (p.Ala4755Gly)	667	DST	Uncertain significance	-1	RCV001891626;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426152	56426152	G	C	56426152	-
NM_001374736.1(DST):c.14260C>G (p.Pro4754Ala)	667	DST	Uncertain significance	rs188631490	RCV001246064\|RCV001508548;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56426156	56426156	G	C	6:g.56426156G>C	-
NM_001374736.1(DST):c.14252A>G (p.Gln4751Arg)	667	DST	Uncertain significance	-1	RCV001970280;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426164	56426164	T	C	56426164	-
NM_001374736.1(DST):c.14234A>G (p.Lys4745Arg)	667	DST	Uncertain significance	-1	RCV001365516;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426182	56426182	T	C	56426182	-
NM_001374736.1(DST):c.14224A>G (p.Lys4742Glu)	667	DST	Uncertain significance	-1	RCV001954872;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426192	56426192	T	C	56426192	-
NM_001374736.1(DST):c.14217G>A (p.Trp4739Ter)	667	DST	Pathogenic	rs2097534211	RCV001248338;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426199	56426199	C	T	6:g.56426199C>T	-
NM_001374736.1(DST):c.14207T>C (p.Met4736Thr)	667	DST	Uncertain significance	-1	RCV001364781;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426209	56426209	A	G	56426209	-
NM_001374736.1(DST):c.14193A>G (p.Glu4731=)	667	DST	Likely benign	-1	RCV002097800;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426223	56426223	T	C	56426223	-
NM_001374736.1(DST):c.14181A>G (p.Gln4727=)	667	DST	Uncertain significance	rs2097534567	RCV001246272;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426235	56426235	T	C	6:g.56426235T>C	-
NM_001374736.1(DST):c.14180A>G (p.Gln4727Arg)	667	DST	Uncertain significance	rs1235195966	RCV001248530;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426236	56426236	T	C	6:g.56426236T>C	-
NM_001374736.1(DST):c.14174A>G (p.Lys4725Arg)	667	DST	Benign	rs78484087	RCV000979005\|RCV001615088;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56426242	56426242	T	C	6:g.56426242T>C	-
NM_001374736.1(DST):c.14170T>C (p.Ser4724Pro)	667	DST	Benign	rs148547958	RCV000979587;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426246	56426246	A	G	6:g.56426246A>G	-
NM_001374736.1(DST):c.14162C>T (p.Thr4721Ile)	667	DST	Uncertain significance	rs1562806934	RCV001349667;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426254	56426254	G	A	56426254	-
NM_001374736.1(DST):c.14151G>A (p.Ala4717=)	667	DST	Benign	rs78882406	RCV000979038;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426265	56426265	C	T	6:g.56426265C>T	-
NM_001374736.1(DST):c.14150C>T (p.Ala4717Val)	667	DST	Uncertain significance	rs181741923	RCV001242695\|RCV001508549;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56426266	56426266	G	A	6:g.56426266G>A	-
NM_001374736.1(DST):c.14144A>G (p.Lys4715Arg)	667	DST	Uncertain significance	rs199706428	RCV001245505;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426272	56426272	T	C	6:g.56426272T>C	-
NM_001374736.1(DST):c.14140G>A (p.Asp4714Asn)	667	DST	Uncertain significance	rs777868479	RCV001242624;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426276	56426276	C	T	6:g.56426276C>T	-
NM_001374736.1(DST):c.14134C>T (p.Leu4712Phe)	667	DST	Uncertain significance	rs376647921	RCV001312571;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426282	56426282	G	A	56426282	-
NM_001374736.1(DST):c.14130C>T (p.Leu4710=)	667	DST	Likely benign	-1	RCV001466847;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426286	56426286	G	A	56426286	-
NM_001374736.1(DST):c.14108A>G (p.His4703Arg)	667	DST	Uncertain significance	rs772369999	RCV001241197;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426308	56426308	T	C	6:g.56426308T>C	-
NM_001374736.1(DST):c.14094G>T (p.Met4698Ile)	667	DST	Likely benign	-1	RCV001496383;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426322	56426322	C	A	56426322	-
NM_001374736.1(DST):c.14069-5C>T	667	DST	Likely benign	-1	RCV002175061;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426352	56426352	G	A	56426352	-
NM_001374736.1(DST):c.14069-12T>C	667	DST	Likely benign	-1	RCV002043288;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426359	56426359	A	G	56426359	-
NM_001374736.1(DST):c.14069-16T>G	667	DST	Benign	-1	RCV002117973;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426363	56426363	A	C	56426363	-
NM_001374736.1(DST):c.14068+5G>A	667	DST	Benign	rs9367689	RCV000613030\|RCV001613403\|RCV001510450\|RCV001662664\|RCV001700175;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154	6	56426931	56426931	C	T	NC_000006.11:g.56426931C>T	ClinGen:CA3868108	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.14064T>C (p.Asn4688=)	667	DST	Uncertain significance	rs1377086977	RCV000797972;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426940	56426940	A	G	6:g.56426940A>G	-
NM_001374736.1(DST):c.14057G>A (p.Trp4686Ter)	667	DST	Pathogenic	rs2097544341	RCV001248266;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426947	56426947	C	T	6:g.56426947C>T	-
NM_001374736.1(DST):c.14052A>G (p.Glu4684=)	667	DST	Likely benign	-1	RCV001405634;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426952	56426952	T	C	56426952	-
NM_001374736.1(DST):c.14035G>C (p.Ala4679Pro)	667	DST	Uncertain significance	rs775166216	RCV001246731;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56426969	56426969	C	G	6:g.56426969C>G	-
NM_001374736.1(DST):c.14033C>T (p.Thr4678Ile)	667	DST	Uncertain significance	rs1382596937	RCV001322514;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426971	56426971	G	A	56426971	-
NM_001374736.1(DST):c.14024G>A (p.Gly4675Asp)	667	DST	Uncertain significance	-1	RCV001365847;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426980	56426980	C	T	56426980	-
NM_001374736.1(DST):c.14024G>T (p.Gly4675Val)	667	DST	Uncertain significance	-1	RCV001952666;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56426980	56426980	C	A	56426980	-
NM_001374736.1(DST):c.14006-6T>C	667	DST	Benign	-1	RCV001514390\|RCV001709712;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56427004	56427004	A	G	56427004	-
NM_001374736.1(DST):c.14005+6A>T	667	DST	Uncertain significance	rs377182814	RCV001243167;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56433261	56433261	T	A	6:g.56433261T>A	-
NM_001374736.1(DST):c.13970C>G (p.Thr4657Ser)	667	DST	Uncertain significance	rs528578142	RCV001245918;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56433302	56433302	G	C	6:g.56433302G>C	-
NM_001374736.1(DST):c.13963G>T (p.Ala4655Ser)	667	DST	Uncertain significance	rs370851951	RCV001347125;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56433309	56433309	C	A	56433309	-
NM_001374736.1(DST):c.13947A>G (p.Leu4649=)	667	DST	Likely benign	-1	RCV002176699;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56433325	56433325	T	C	56433325	-
NM_001374736.1(DST):c.13934G>A (p.Ser4645Asn)	667	DST	Uncertain significance	rs748268169	RCV001244609;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56433338	56433338	C	T	6:g.56433338C>T	-
NM_001374736.1(DST):c.13929C>T (p.Asn4643=)	667	DST	Likely benign	-1	RCV002178579;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56433343	56433343	G	A	56433343	-
NM_001374736.1(DST):c.13928A>T (p.Asn4643Ile)	667	DST	Uncertain significance	rs147895709	RCV001319626;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56433344	56433344	T	A	56433344	-
NM_001374736.1(DST):c.13912G>C (p.Glu4638Gln)	667	DST	Uncertain significance	rs377669664	RCV001241869;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56433360	56433360	C	G	6:g.56433360C>G	-
NM_001374736.1(DST):c.13905A>C (p.Lys4635Asn)	667	DST	Uncertain significance	-1	RCV001913265;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56433367	56433367	T	G	56433367	-
NM_001374736.1(DST):c.13902A>T (p.Leu4634Phe)	667	DST	Uncertain significance	-1	RCV001367027;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56433370	56433370	T	A	56433370	-
NM_001374736.1(DST):c.13885C>A (p.Gln4629Lys)	667	DST	Uncertain significance	rs1207366191	RCV001246270;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56433387	56433387	G	T	6:g.56433387G>T	-
NM_001374736.1(DST):c.13878+8A>G	667	DST	Likely benign	-1	RCV001413217;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56434646	56434646	T	C	56434646	-
NM_001374736.1(DST):c.13825G>A (p.Val4609Ile)	667	DST	Uncertain significance	-1	RCV001954757;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56434707	56434707	C	T	56434707	-
NM_001374736.1(DST):c.13820C>A (p.Pro4607His)	667	DST	Benign/Likely benign	rs138967674	RCV000979003\|RCV001732002;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56434712	56434712	G	T	6:g.56434712G>T	-
NM_001374736.1(DST):c.13813A>G (p.Lys4605Glu)	667	DST	Uncertain significance	rs113849115	RCV001241062;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56434719	56434719	T	C	6:g.56434719T>C	-
NM_001374736.1(DST):c.13807A>G (p.Thr4603Ala)	667	DST	Uncertain significance	rs2097755652	RCV001247573;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56434725	56434725	T	C	6:g.56434725T>C	-
NM_001374736.1(DST):c.13801G>A (p.Glu4601Lys)	667	DST	Uncertain significance	-1	RCV001913040;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56434731	56434731	C	T	56434731	-
NM_001374736.1(DST):c.13757A>C (p.Asp4586Ala)	667	DST	Uncertain significance	-1	RCV001988133;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56434775	56434775	T	G	56434775	-
NM_001374736.1(DST):c.13736C>T (p.Thr4579Ile)	667	DST	Uncertain significance	rs2097756144	RCV001241810;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56434796	56434796	G	A	6:g.56434796G>A	-
NM_001374736.1(DST):c.13724AAG[1] (p.Glu4576del)	667	DST	Uncertain significance	rs2097756169	RCV001352131;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56434803	56434805	GCTT	G	56434802	-
NM_001374736.1(DST):c.13722-4G>A	667	DST	Benign	-1	RCV001510526;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56434814	56434814	C	T	56434814	-
NM_001374736.1(DST):c.13722-5T>C	667	DST	Likely benign	-1	RCV001483482;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56434815	56434815	A	G	56434815	-
NM_001374736.1(DST):c.13721+13T>G	667	DST	Likely benign	-1	RCV002088557;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56436885	56436885	A	C	56436885	-
NM_001374736.1(DST):c.13721+2dup	667	DST	Uncertain significance	-1	RCV001933258;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56436895	56436896	T	TA	56436895	-
NM_001374736.1(DST):c.13711A>G (p.Ile4571Val)	667	DST	Uncertain significance	-1	RCV001926908;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56436908	56436908	T	C	56436908	-
NM_001374736.1(DST):c.13710C>A (p.Thr4570=)	667	DST	Likely benign	-1	RCV002110255;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56436909	56436909	G	T	56436909	-
NM_001374736.1(DST):c.13709C>A (p.Thr4570Asn)	667	DST	Uncertain significance	rs1448444120	RCV001245790;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56436910	56436910	G	T	6:g.56436910G>T	-
NM_001374736.1(DST):c.13707_13708insTAATATAAATAGAATAAAATAT (p.Thr4570Ter)	667	DST	Pathogenic	-1	RCV001994464;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56436911	56436912	T	TATATTTTATTCTATTTATATTA	56436911	-
NM_001374736.1(DST):c.13705G>A (p.Asp4569Asn)	667	DST	Uncertain significance	rs759202844	RCV001242443;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56436914	56436914	C	T	6:g.56436914C>T	-
NM_001374736.1(DST):c.13701G>A (p.Met4567Ile)	667	DST	Uncertain significance	rs1445711960	RCV000998634\|RCV001239864;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56436918	56436918	C	T	6:g.56436918C>T	-
NM_001374736.1(DST):c.13676A>G (p.Asn4559Ser)	667	DST	Uncertain significance	-1	RCV001940639;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56436943	56436943	T	C	56436943	-
NM_001374736.1(DST):c.13652C>T (p.Ala4551Val)	667	DST	Uncertain significance	-1	RCV001946332;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56436967	56436967	G	A	56436967	-
NM_001374736.1(DST):c.13631A>G (p.His4544Arg)	667	DST	Uncertain significance	rs748806288	RCV001343786;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56436988	56436988	T	C	56436988	-
NM_001374736.1(DST):c.13630C>T (p.His4544Tyr)	667	DST	Uncertain significance	rs1397028886	RCV001317743;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56436989	56436989	G	A	56436989	-
NM_001374736.1(DST):c.13609C>T (p.Leu4537Phe)	667	DST	Uncertain significance	-1	RCV001909963;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437010	56437010	G	A	56437010	-
NM_001374736.1(DST):c.13606A>G (p.Ser4536Gly)	667	DST	Uncertain significance	-1	RCV001985452;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437013	56437013	T	C	56437013	-
NM_001374736.1(DST):c.13598T>C (p.Val4533Ala)	667	DST	Benign/Likely benign	-1	RCV001514396\|RCV001776241;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56437021	56437021	A	G	56437021	-
NM_001374736.1(DST):c.13592T>C (p.Leu4531Pro)	667	DST	Uncertain significance	rs760912540	RCV000794796;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437027	56437027	A	G	6:g.56437027A>G	-
NM_001374736.1(DST):c.13591C>G (p.Leu4531Val)	667	DST	Uncertain significance	rs996209535	RCV001305536;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437028	56437028	G	C	56437028	-
NM_001374736.1(DST):c.13581C>T (p.His4527=)	667	DST	Likely benign	-1	RCV001487875;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437038	56437038	G	A	56437038	-
NM_001374736.1(DST):c.13568A>G (p.Glu4523Gly)	667	DST	Uncertain significance	-1	RCV002031449;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437051	56437051	T	C	56437051	-
NM_001374736.1(DST):c.13565C>A (p.Ser4522Tyr)	667	DST	Uncertain significance	rs751015571	RCV001241740;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437054	56437054	G	T	6:g.56437054G>T	-
NM_001374736.1(DST):c.13561A>G (p.Thr4521Ala)	667	DST	Uncertain significance	-1	RCV001362340;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437058	56437058	T	C	56437058	-
NM_001374736.1(DST):c.13555-13T>C	667	DST	Likely benign	-1	RCV002197884;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437077	56437077	A	G	56437077	-
NM_001374736.1(DST):c.13555-17A>G	667	DST	Benign/Likely benign	-1	RCV001733232\|RCV002073977;	N	MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437081	56437081	T	C	56437081	-
NM_001374736.1(DST):c.13555-20A>T	667	DST	Likely benign	-1	RCV002140729;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437084	56437084	T	A	56437084	-
NM_001374736.1(DST):c.13554+18C>T	667	DST	Likely benign	-1	RCV002178378;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437527	56437527	G	A	56437527	-
NM_001374736.1(DST):c.13532C>T (p.Thr4511Ile)	667	DST	Uncertain significance	rs200621004	RCV001243844;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437567	56437567	G	A	6:g.56437567G>A	-
NM_001374736.1(DST):c.13528G>C (p.Val4510Leu)	667	DST	Uncertain significance	-1	RCV001914079;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437571	56437571	C	G	56437571	-
NM_001374736.1(DST):c.13527T>C (p.Asp4509=)	667	DST	Likely benign	-1	RCV001472054;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437572	56437572	A	G	56437572	-
NM_001374736.1(DST):c.13523A>C (p.Lys4508Thr)	667	DST	Uncertain significance	rs2097796893	RCV001248120;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437576	56437576	T	G	6:g.56437576T>G	-
NM_001374736.1(DST):c.13507G>A (p.Val4503Ile)	667	DST	Uncertain significance	rs1241112751	RCV001239371;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437592	56437592	C	T	6:g.56437592C>T	-
NM_001374736.1(DST):c.13506A>G (p.Glu4502=)	667	DST	Uncertain significance	-1	RCV002027244;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437593	56437593	T	C	56437593	-
NM_001374736.1(DST):c.13499T>C (p.Leu4500Pro)	667	DST	Uncertain significance	rs758532940	RCV000998635\|RCV001245434;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437600	56437600	A	G	6:g.56437600A>G	-
NM_001374736.1(DST):c.13494G>T (p.Gln4498His)	667	DST	Uncertain significance	rs565276328	RCV001245571;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437605	56437605	C	A	6:g.56437605C>A	-
NM_001374736.1(DST):c.13482A>G (p.Glu4494=)	667	DST	Likely benign	-1	RCV002194402;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437617	56437617	T	C	56437617	-
NM_001374736.1(DST):c.13448A>C (p.Glu4483Ala)	667	DST	Uncertain significance	rs1371418837	RCV001245854;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437651	56437651	T	G	6:g.56437651T>G	-
NM_001374736.1(DST):c.13438G>A (p.Glu4480Lys)	667	DST	Uncertain significance	rs1291767235	RCV001324124;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437661	56437661	C	T	56437661	-
NM_001374736.1(DST):c.13432A>G (p.Lys4478Glu)	667	DST	Uncertain significance	rs577213409	RCV001340877;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437667	56437667	T	C	56437667	-
NM_001374736.1(DST):c.13430C>A (p.Thr4477Asn)	667	DST	Uncertain significance	rs2097797774	RCV001240000;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437669	56437669	G	T	6:g.56437669G>T	-
NM_001374736.1(DST):c.13399G>C (p.Glu4467Gln)	667	DST	Uncertain significance	rs758298929	RCV001246725;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437700	56437700	C	G	6:g.56437700C>G	-
NM_001374736.1(DST):c.13388A>G (p.His4463Arg)	667	DST	Uncertain significance	rs1585223385	RCV000817213;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437711	56437711	T	C	6:g.56437711T>C	-
NM_001374736.1(DST):c.13371G>T (p.Arg4457=)	667	DST	Likely benign	-1	RCV002156005;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437728	56437728	C	A	56437728	-
NM_001374736.1(DST):c.13369C>T (p.Arg4457Trp)	667	DST	Uncertain significance	-1	RCV001946335;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437730	56437730	G	A	56437730	-
NM_001374736.1(DST):c.13364C>G (p.Ser4455Cys)	667	DST	Uncertain significance	-1	RCV001361115;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437735	56437735	G	C	56437735	-
NM_001374736.1(DST):c.13361T>C (p.Leu4454Ser)	667	DST	Conflicting interpretations of pathogenicity	rs201758531	RCV000578628\|RCV000979439;	N	MedGen:CN169374\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437738	56437738	A	G	6:g.56437738A>G	ClinGen:CA3868229	CN169374 not specified;
NM_001374736.1(DST):c.13306A>G (p.Met4436Val)	667	DST	Uncertain significance	-1	RCV001977801;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437793	56437793	T	C	56437793	-
NM_001374736.1(DST):c.13284G>T (p.Met4428Ile)	667	DST	Uncertain significance	rs749936213	RCV000818437;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437815	56437815	C	A	6:g.56437815C>A	-
NM_001374736.1(DST):c.13283T>C (p.Met4428Thr)	667	DST	Uncertain significance	rs757885682	RCV001323599;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437816	56437816	A	G	56437816	-
NM_001374736.1(DST):c.13273A>G (p.Ile4425Val)	667	DST	Uncertain significance	rs182262649	RCV000821141\|RCV001766738;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56437826	56437826	T	C	6:g.56437826T>C	-
NM_001374736.1(DST):c.13268G>A (p.Ser4423Asn)	667	DST	Uncertain significance	-1	RCV001948078;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437831	56437831	C	T	56437831	-
NM_001374736.1(DST):c.13262G>A (p.Arg4421His)	667	DST	Uncertain significance	rs373925692	RCV000808933;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437837	56437837	C	T	6:g.56437837C>T	-
NM_001374736.1(DST):c.13262G>C (p.Arg4421Pro)	667	DST	Uncertain significance	-1	RCV001363965;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437837	56437837	C	G	56437837	-
NM_001374736.1(DST):c.13255_13256delinsTT (p.Ala4419Leu)	667	DST	Uncertain significance	-1	RCV001901848;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437843	56437844	GC	AA	56437843	-
NM_001374736.1(DST):c.13243G>A (p.Glu4415Lys)	667	DST	Uncertain significance	rs976294831	RCV000800693;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437856	56437856	C	T	6:g.56437856C>T	-
NM_001374736.1(DST):c.13239G>T (p.Met4413Ile)	667	DST	Uncertain significance	rs770123943	RCV001241812;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56437860	56437860	C	A	6:g.56437860C>A	-
NM_001374736.1(DST):c.13237-14T>C	667	DST	Likely benign	-1	RCV002215406;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437876	56437876	A	G	56437876	-
NM_001374736.1(DST):c.13237-17T>G	667	DST	Likely benign	-1	RCV002125688;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56437879	56437879	A	C	56437879	-
NM_001374736.1(DST):c.13236+20del	667	DST	Benign	-1	RCV002125085;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438457	56438457	CT	C	56438456	-
NM_001374736.1(DST):c.13236T>A (p.Ile4412=)	667	DST	Uncertain significance	rs773931543	RCV001313232;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438477	56438477	A	T	56438477	-
NM_001374736.1(DST):c.13197A>G (p.Leu4399=)	667	DST	Likely benign	-1	RCV002114354;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56438516	56438516	T	C	56438516	-
NM_001374736.1(DST):c.13191G>C (p.Val4397=)	667	DST	Likely benign	-1	RCV001421242;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438522	56438522	C	G	56438522	-
NM_001374736.1(DST):c.13187A>C (p.Gln4396Pro)	667	DST	Uncertain significance	rs192539811	RCV001248594;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56438526	56438526	T	G	6:g.56438526T>G	-
NM_001374736.1(DST):c.13184G>C (p.Gly4395Ala)	667	DST	Uncertain significance	rs778792290	RCV001247058;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438529	56438529	C	G	6:g.56438529C>G	-
NM_001374736.1(DST):c.13177G>C (p.Glu4393Gln)	667	DST	Uncertain significance	-1	RCV001933408;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438536	56438536	C	G	56438536	-
NM_001374736.1(DST):c.13158T>A (p.Asn4386Lys)	667	DST	Uncertain significance	rs745960567	RCV001246804;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438555	56438555	A	T	6:g.56438555A>T	-
NM_001374736.1(DST):c.13127G>A (p.Gly4376Asp)	667	DST	Uncertain significance	rs2097817551	RCV001246190;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438586	56438586	C	T	6:g.56438586C>T	-
NM_001374736.1(DST):c.13116T>C (p.Ser4372=)	667	DST	Likely benign	-1	RCV002123987;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56438597	56438597	A	G	56438597	-
NM_001374736.1(DST):c.13114A>C (p.Ser4372Arg)	667	DST	Uncertain significance	rs759292785	RCV001246392;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438599	56438599	T	G	6:g.56438599T>G	-
NM_001374736.1(DST):c.13110A>C (p.Ser4370=)	667	DST	Likely benign	-1	RCV002110195;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438603	56438603	T	G	56438603	-
NM_001374736.1(DST):c.13105C>T (p.Arg4369Cys)	667	DST	Uncertain significance	-1	RCV002012019;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56438608	56438608	G	A	56438608	-
NM_001374736.1(DST):c.13087C>T (p.Leu4363Phe)	667	DST	Uncertain significance	-1	RCV001888171;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438626	56438626	G	A	56438626	-
NM_001374736.1(DST):c.13076G>A (p.Arg4359Gln)	667	DST	Uncertain significance	-1	RCV001367465;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56438637	56438637	C	T	56438637	-
NM_001374736.1(DST):c.13070A>G (p.Asn4357Ser)	667	DST	Uncertain significance	-1	RCV001365161;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56438643	56438643	T	C	56438643	-
NM_001374736.1(DST):c.13065T>C (p.Ser4355=)	667	DST	Likely benign	-1	RCV002218808;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438648	56438648	A	G	56438648	-
NM_001374736.1(DST):c.13064C>G (p.Ser4355Cys)	667	DST	Uncertain significance	rs200280141	RCV001241389;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438649	56438649	G	C	6:g.56438649G>C	-
NM_001374736.1(DST):c.13062G>C (p.Lys4354Asn)	667	DST	Uncertain significance	-1	RCV001890778;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438651	56438651	C	G	56438651	-
NM_001374736.1(DST):c.13052A>T (p.Asp4351Val)	667	DST	Uncertain significance	rs2097818861	RCV001244679;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438661	56438661	T	A	6:g.56438661T>A	-
NM_001374736.1(DST):c.13031A>G (p.Asp4344Gly)	667	DST	Uncertain significance	rs774089161	RCV001346879;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56438682	56438682	T	C	56438682	-
NM_001374736.1(DST):c.13029T>C (p.Asp4343=)	667	DST	Uncertain significance	-1	RCV001971143;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438684	56438684	A	G	56438684	-
NM_001374736.1(DST):c.13028-16G>A	667	DST	Benign/Likely benign	-1	RCV001787479\|RCV002074108;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56438701	56438701	C	T	56438701	-
NM_001374736.1(DST):c.13028-17T>G	667	DST	Likely benign	-1	RCV002187699;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56438702	56438702	A	C	56438702	-
NM_001374736.1(DST):c.13027+17C>T	667	DST	Likely benign	-1	RCV002188219;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443595	56443595	G	A	56443595	-
NM_001374736.1(DST):c.13027+9T>C	667	DST	Likely benign	-1	RCV002146212;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56443603	56443603	A	G	56443603	-
NM_001374736.1(DST):c.13024C>T (p.Leu4342Phe)	667	DST	Uncertain significance	-1	RCV001935863;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443615	56443615	G	A	56443615	-
NM_001374736.1(DST):c.13022C>T (p.Thr4341Ile)	667	DST	Uncertain significance	rs771859474	RCV001239032;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443617	56443617	G	A	6:g.56443617G>A	-
NM_001374736.1(DST):c.13006A>G (p.Asn4336Asp)	667	DST	Uncertain significance	-1	RCV002042470;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443633	56443633	T	C	56443633	-
NM_001374736.1(DST):c.12987A>T (p.Gly4329=)	667	DST	Likely benign	-1	RCV001416721;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56443652	56443652	T	A	56443652	-
NM_001374736.1(DST):c.12981C>T (p.Ala4327=)	667	DST	Likely benign	-1	RCV001445948;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443658	56443658	G	A	56443658	-
NM_001374736.1(DST):c.12980C>G (p.Ala4327Gly)	667	DST	Uncertain significance	rs2097915078	RCV001338683;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443659	56443659	G	C	56443659	-
NM_001374736.1(DST):c.12960G>A (p.Thr4320=)	667	DST	Likely benign	-1	RCV002096833;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443679	56443679	C	T	56443679	-
NM_001374736.1(DST):c.12959C>T (p.Thr4320Met)	667	DST	Uncertain significance	rs544327450	RCV001242389\|RCV001508550;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56443680	56443680	G	A	6:g.56443680G>A	-
NM_001374736.1(DST):c.12940G>A (p.Val4314Ile)	667	DST	Uncertain significance	rs755123053	RCV001317261;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443699	56443699	C	T	56443699	-
NM_001374736.1(DST):c.12934G>A (p.Val4312Ile)	667	DST	Uncertain significance	-1	RCV001991072;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56443705	56443705	C	T	56443705	-
NM_001374736.1(DST):c.12926G>A (p.Ser4309Asn)	667	DST	Uncertain significance	rs996264313	RCV001239592;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443713	56443713	C	T	6:g.56443713C>T	-
NM_001374736.1(DST):c.12922T>C (p.Ser4308Pro)	667	DST	Uncertain significance	rs778220904	RCV001248731;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443717	56443717	A	G	6:g.56443717A>G	-
NM_001374736.1(DST):c.12907T>C (p.Leu4303=)	667	DST	Likely benign	-1	RCV001391888;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443732	56443732	A	G	56443732	-
NM_001374736.1(DST):c.12904-3C>T	667	DST	Uncertain significance	-1	RCV001913267;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443738	56443738	G	A	56443738	-
NM_001374736.1(DST):c.12904-14G>A	667	DST	Likely benign	-1	RCV001951643;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56443749	56443749	C	T	56443749	-
NM_001374736.1(DST):c.12903+19A>T	667	DST	Likely benign	-1	RCV002194968;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56456961	56456961	T	A	56456961	-
NM_001374736.1(DST):c.12903+15A>G	667	DST	Likely benign	-1	RCV002161281;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56456965	56456965	T	C	56456965	-
NM_001374736.1(DST):c.12903+9_12903+10del	667	DST	Likely benign	-1	RCV001439562;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56456970	56456971	TCG	T	56456969	-
NM_001374736.1(DST):c.12903+10G>A	667	DST	Likely benign	-1	RCV002141348;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56456970	56456970	C	T	56456970	-
NM_001374736.1(DST):c.12903+9C>T	667	DST	Uncertain significance	rs775106494	RCV001245722;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56456971	56456971	G	A	6:g.56456971G>A	-
NM_001374736.1(DST):c.12899C>G (p.Thr4300Ser)	667	DST	Uncertain significance	-1	RCV001980628;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56456984	56456984	G	C	56456984	-
NM_001374736.1(DST):c.12896A>G (p.Glu4299Gly)	667	DST	Uncertain significance	-1	RCV001897818;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56456987	56456987	T	C	56456987	-
NM_001374736.1(DST):c.12888A>G (p.Gln4296=)	667	DST	Likely benign	rs201201114	RCV000979590;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56456995	56456995	T	C	6:g.56456995T>C	-
NM_001374736.1(DST):c.12888A>T (p.Gln4296His)	667	DST	Uncertain significance	rs201201114	RCV001245914\|RCV001508551;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56456995	56456995	T	A	6:g.56456995T>A	-
NM_001374736.1(DST):c.12885G>C (p.Arg4295Ser)	667	DST	Uncertain significance	rs2098289303	RCV001303230;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56456998	56456998	C	G	56456998	-
NM_001374736.1(DST):c.12871A>C (p.Lys4291Gln)	667	DST	Uncertain significance	rs754447113	RCV001241931;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56457012	56457012	T	G	6:g.56457012T>G	-
NM_001374736.1(DST):c.12869C>T (p.Pro4290Leu)	667	DST	Uncertain significance	rs757864438	RCV001240216;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457014	56457014	G	A	6:g.56457014G>A	-
NM_001374736.1(DST):c.12867C>T (p.Asp4289=)	667	DST	Likely benign	-1	RCV001412320;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457016	56457016	G	A	56457016	-
NM_001374736.1(DST):c.12866A>G (p.Asp4289Gly)	667	DST	Uncertain significance	-1	RCV001975945;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56457017	56457017	T	C	56457017	-
NM_001374736.1(DST):c.12863T>C (p.Val4288Ala)	667	DST	Uncertain significance	rs2098289659	RCV001239168;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457020	56457020	A	G	6:g.56457020A>G	-
NM_001374736.1(DST):c.12861G>A (p.Ala4287=)	667	DST	Likely benign	-1	RCV001402993;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56457022	56457022	C	T	56457022	-
NM_001374736.1(DST):c.12860C>T (p.Ala4287Val)	667	DST	Uncertain significance	rs760441270	RCV001243435;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56457023	56457023	G	A	6:g.56457023G>A	-
NM_001374736.1(DST):c.12847T>C (p.Ser4283Pro)	667	DST	Uncertain significance	-1	RCV001951850;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56457036	56457036	A	G	56457036	-
NM_001374736.1(DST):c.12843C>T (p.His4281=)	667	DST	Likely benign	-1	RCV002118882;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457040	56457040	G	A	56457040	-
NM_001374736.1(DST):c.12839A>G (p.Lys4280Arg)	667	DST	Conflicting interpretations of pathogenicity	rs186813964	RCV000979045\|RCV001086016;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457044	56457044	T	C	6:g.56457044T>C	-
NM_001374736.1(DST):c.12834G>A (p.Ala4278=)	667	DST	Likely benign	-1	RCV001408347;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457049	56457049	C	T	56457049	-
NM_001374736.1(DST):c.12833C>T (p.Ala4278Val)	667	DST	Uncertain significance	rs772339057	RCV001238974;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457050	56457050	G	A	6:g.56457050G>A	-
NM_001374736.1(DST):c.12826G>A (p.Ala4276Thr)	667	DST	Uncertain significance	-1	RCV001968192;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56457057	56457057	C	T	56457057	-
NM_001374736.1(DST):c.12821G>T (p.Cys4274Phe)	667	DST	Uncertain significance	-1	RCV001926260;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56457062	56457062	C	A	56457062	-
NM_001374736.1(DST):c.12810A>G (p.Gly4270=)	667	DST	Likely benign	-1	RCV002174275;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457073	56457073	T	C	56457073	-
NM_001374736.1(DST):c.12785A>T (p.Asp4262Val)	667	DST	Uncertain significance	-1	RCV001937621;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56457098	56457098	T	A	56457098	-
NM_001374736.1(DST):c.12754G>T (p.Asp4252Tyr)	667	DST	Uncertain significance	rs757177251	RCV001247707;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56457129	56457129	C	A	6:g.56457129C>A	-
NM_001374736.1(DST):c.12731A>G (p.Asn4244Ser)	667	DST	Uncertain significance	rs200672626	RCV001239232;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457152	56457152	T	C	6:g.56457152T>C	-
NM_001374736.1(DST):c.12727-14C>T	667	DST	Likely benign	-1	RCV002099824;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56457170	56457170	G	A	56457170	-
NM_001374736.1(DST):c.12726G>A (p.Lys4242=)	667	DST	Uncertain significance	rs2098327053	RCV001248737;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458461	56458461	C	T	6:g.56458461C>T	-
NM_001374736.1(DST):c.12723T>G (p.Ser4241=)	667	DST	Likely benign	-1	RCV001491656;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458464	56458464	A	C	56458464	-
NM_001374736.1(DST):c.12719A>G (p.Tyr4240Cys)	667	DST	Uncertain significance	-1	RCV001956823;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458468	56458468	T	C	56458468	-
NM_001374736.1(DST):c.12704G>A (p.Arg4235Gln)	667	DST	Uncertain significance	-1	RCV002019397;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458483	56458483	C	T	56458483	-
NM_001374736.1(DST):c.12703C>T (p.Arg4235Trp)	667	DST	Uncertain significance	rs778888568	RCV001246061;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458484	56458484	G	A	6:g.56458484G>A	-
NM_001374736.1(DST):c.12703C>G (p.Arg4235Gly)	667	DST	Uncertain significance	-1	RCV001367405;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458484	56458484	G	C	56458484	-
NM_001374736.1(DST):c.12701A>G (p.Asp4234Gly)	667	DST	Uncertain significance	-1	RCV001922338;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458486	56458486	T	C	56458486	-
NM_001374736.1(DST):c.12690T>G (p.Asp4230Glu)	667	DST	Uncertain significance	rs914995831	RCV001335762;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458497	56458497	A	C	56458497	-
NM_001374736.1(DST):c.12681C>T (p.Arg4227=)	667	DST	Uncertain significance	rs2098327553	RCV001243632;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458506	56458506	G	A	6:g.56458506G>A	-
NM_001374736.1(DST):c.12680G>A (p.Arg4227His)	667	DST	Uncertain significance	rs201346012	RCV000810922\|RCV001335761\|RCV001700462;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56458507	56458507	C	T	6:g.56458507C>T	-
NM_001374736.1(DST):c.12631_12645del (p.Arg4211_Lys4215del)	667	DST	Uncertain significance	rs763288106	RCV001240787;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458542	56458556	CCTTGCCACCGTCTCT	C	6:g.56458542_56458556del	-
NM_001374736.1(DST):c.12637G>A (p.Gly4213Ser)	667	DST	Uncertain significance	-1	RCV001926807;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458550	56458550	C	T	56458550	-
NM_001374736.1(DST):c.12636C>T (p.Asp4212=)	667	DST	Benign	rs74609186	RCV000979188;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458551	56458551	G	A	6:g.56458551G>A	-
NM_001374736.1(DST):c.12633A>G (p.Arg4211=)	667	DST	Likely benign	-1	RCV001419516;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458554	56458554	T	C	56458554	-
NM_001374736.1(DST):c.12627C>G (p.Ser4209Arg)	667	DST	Uncertain significance	rs1259234822	RCV001245302;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458560	56458560	G	C	6:g.56458560G>C	-
NM_001374736.1(DST):c.12618A>G (p.Lys4206=)	667	DST	Benign	rs376162444	RCV000979582;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458569	56458569	T	C	6:g.56458569T>C	-
NM_001374736.1(DST):c.12593G>T (p.Gly4198Val)	667	DST	Uncertain significance	-1	RCV001920929;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458594	56458594	C	A	56458594	-
NM_001374736.1(DST):c.12562A>G (p.Lys4188Glu)	667	DST	Uncertain significance	-1	RCV001989407;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458625	56458625	T	C	56458625	-
NM_001374736.1(DST):c.12549C>T (p.Asp4183=)	667	DST	Likely benign	-1	RCV001485776;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458638	56458638	G	A	56458638	-
NM_001374736.1(DST):c.12548A>G (p.Asp4183Gly)	667	DST	Uncertain significance	rs1462100722	RCV000797036;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458639	56458639	T	C	6:g.56458639T>C	-
NM_001374736.1(DST):c.12546A>G (p.Glu4182=)	667	DST	Likely benign	-1	RCV001482977;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458641	56458641	T	C	56458641	-
NM_001374736.1(DST):c.12536G>C (p.Ser4179Thr)	667	DST	Uncertain significance	rs2098329229	RCV001242890;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458651	56458651	C	G	6:g.56458651C>G	-
NM_001374736.1(DST):c.12514A>G (p.Thr4172Ala)	667	DST	Uncertain significance	rs1209088760	RCV001240146;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458673	56458673	T	C	6:g.56458673T>C	-
NM_001374736.1(DST):c.12488G>A (p.Gly4163Asp)	667	DST	Uncertain significance	rs781152141	RCV001508552\|RCV001242388;	N	MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458699	56458699	C	T	6:g.56458699C>T	-
NM_001374736.1(DST):c.12487G>A (p.Gly4163Ser)	667	DST	Uncertain significance	rs748277363	RCV001244753;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458700	56458700	C	T	6:g.56458700C>T	-
NM_001374736.1(DST):c.12484G>A (p.Ala4162Thr)	667	DST	Uncertain significance	rs141048754	RCV001346122;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458703	56458703	C	T	56458703	-
NM_001374736.1(DST):c.12473A>G (p.Glu4158Gly)	667	DST	Uncertain significance	rs749444940	RCV001240067;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458714	56458714	T	C	6:g.56458714T>C	-
NM_001374736.1(DST):c.12471T>G (p.Leu4157=)	667	DST	Likely benign	-1	RCV001440075;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458716	56458716	A	C	56458716	-
NM_001374736.1(DST):c.12469C>T (p.Leu4157Phe)	667	DST	Uncertain significance	rs554822347	RCV001248733;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458718	56458718	G	A	6:g.56458718G>A	-
NM_001374736.1(DST):c.12433G>A (p.Glu4145Lys)	667	DST	Uncertain significance	rs752961020	RCV001245305;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458754	56458754	C	T	6:g.56458754C>T	-
NM_001374736.1(DST):c.12428A>C (p.Tyr4143Ser)	667	DST	Uncertain significance	-1	RCV002039098;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458759	56458759	T	G	56458759	-
NM_001374736.1(DST):c.12420T>C (p.Asp4140=)	667	DST	Likely benign	-1	RCV002075373;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458767	56458767	A	G	56458767	-
NM_001374736.1(DST):c.12400G>A (p.Glu4134Lys)	667	DST	Uncertain significance	-1	RCV001903973;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458787	56458787	C	T	56458787	-
NM_001374736.1(DST):c.12390C>G (p.His4130Gln)	667	DST	Uncertain significance	rs764958407	RCV001239865;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458797	56458797	G	C	6:g.56458797G>C	-
NM_001374736.1(DST):c.12388C>G (p.His4130Asp)	667	DST	Uncertain significance	rs772590922	RCV001243231;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458799	56458799	G	C	6:g.56458799G>C	-
NM_001374736.1(DST):c.12388C>T (p.His4130Tyr)	667	DST	Uncertain significance	rs772590922	RCV001350145;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458799	56458799	G	A	56458799	-
NM_001374736.1(DST):c.12363G>A (p.Glu4121=)	667	DST	Likely benign	-1	RCV002204873;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458824	56458824	C	T	56458824	-
NM_001374736.1(DST):c.12354A>T (p.Ala4118=)	667	DST	Likely benign	-1	RCV001444182;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458833	56458833	T	A	56458833	-
NM_001374736.1(DST):c.12351T>G (p.Thr4117=)	667	DST	Benign/Likely benign	rs16888032	RCV000979009\|RCV001847119;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56458836	56458836	A	C	6:g.56458836A>C	-
NM_001374736.1(DST):c.12333G>A (p.Leu4111=)	667	DST	Likely benign	-1	RCV002156909;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458854	56458854	C	T	56458854	-
NM_001374736.1(DST):c.12327G>A (p.Lys4109=)	667	DST	Likely benign	-1	RCV002170051;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458860	56458860	C	T	56458860	-
NM_001374736.1(DST):c.12323T>C (p.Met4108Thr)	667	DST	Uncertain significance	-1	RCV002002088;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458864	56458864	A	G	56458864	-
NM_001374736.1(DST):c.12322A>G (p.Met4108Val)	667	DST	Uncertain significance	rs1272703082	RCV001326124;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458865	56458865	T	C	56458865	-
NM_001374736.1(DST):c.12307A>G (p.Lys4103Glu)	667	DST	Uncertain significance	rs749297410	RCV001243301;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458880	56458880	T	C	6:g.56458880T>C	-
NM_001374736.1(DST):c.12292C>G (p.Pro4098Ala)	667	DST	Uncertain significance	rs368463876	RCV001341506;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458895	56458895	G	C	56458895	-
NM_001374736.1(DST):c.12256C>G (p.Gln4086Glu)	667	DST	Uncertain significance	rs1463381470	RCV001317584;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458931	56458931	G	C	56458931	-
NM_001374736.1(DST):c.12244A>G (p.Thr4082Ala)	667	DST	Uncertain significance	-1	RCV001943294;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458943	56458943	T	C	56458943	-
NM_001374736.1(DST):c.12238A>G (p.Ile4080Val)	667	DST	Uncertain significance	rs200855949	RCV001295127\|RCV001311723;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56458949	56458949	T	C	56458949	-
NM_001374736.1(DST):c.12220C>G (p.Gln4074Glu)	667	DST	Uncertain significance	rs1400251833	RCV001243495;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458967	56458967	G	C	6:g.56458967G>C	-
NM_001374736.1(DST):c.12218C>T (p.Ser4073Phe)	667	DST	Uncertain significance	rs1277292455	RCV001239444\|RCV001726463;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56458969	56458969	G	A	6:g.56458969G>A	-
NM_001374736.1(DST):c.12214A>T (p.Ile4072Phe)	667	DST	Uncertain significance	-1	RCV002050261;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458973	56458973	T	A	56458973	-
NM_001374736.1(DST):c.12210G>T (p.Lys4070Asn)	667	DST	Uncertain significance	rs778224745	RCV001240789;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458977	56458977	C	A	6:g.56458977C>A	-
NM_001374736.1(DST):c.12205G>A (p.Glu4069Lys)	667	DST	Uncertain significance	rs774002432	RCV001243230;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56458982	56458982	C	T	6:g.56458982C>T	-
NM_001374736.1(DST):c.12201A>G (p.Gln4067=)	667	DST	Likely benign	-1	RCV002110850;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56458986	56458986	T	C	56458986	-
NC_000006.11:g.(?_56459785)_(56462879_?)del	667	DST	Uncertain significance	-1	RCV002016889;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56459785	56462879	na	na	-1	-
NM_001374736.1(DST):c.12159T>G (p.Thr4053=)	667	DST	Likely benign	rs369432519	RCV000981953;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462574	56462574	A	C	6:g.56462574A>C	-
NM_001374736.1(DST):c.12132T>G (p.Thr4044=)	667	DST	Likely benign	-1	RCV001979884;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462601	56462601	A	C	56462601	-
NM_001374736.1(DST):c.12113A>G (p.Asn4038Ser)	667	DST	Uncertain significance	-1	RCV001965312;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56462620	56462620	T	C	56462620	-
NM_001374736.1(DST):c.12109G>A (p.Val4037Ile)	667	DST	Uncertain significance	-1	RCV002038839;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56462624	56462624	C	T	56462624	-
NM_001374736.1(DST):c.12104A>T (p.Asp4035Val)	667	DST	Uncertain significance	rs2098406131	RCV001248659;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462629	56462629	T	A	6:g.56462629T>A	-
NM_001374736.1(DST):c.12095G>T (p.Gly4032Val)	667	DST	Uncertain significance	-1	RCV001915711;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56462638	56462638	C	A	56462638	-
NM_001374736.1(DST):c.12092T>C (p.Ile4031Thr)	667	DST	Uncertain significance	-1	RCV002012172;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462641	56462641	A	G	56462641	-
NM_001374736.1(DST):c.12091A>G (p.Ile4031Val)	667	DST	Uncertain significance	rs200798191	RCV000821597;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462642	56462642	T	C	6:g.56462642T>C	-
NM_001374736.1(DST):c.12089C>T (p.Ala4030Val)	667	DST	Uncertain significance	rs768494219	RCV001337816;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462644	56462644	G	A	56462644	-
NM_001374736.1(DST):c.12055G>A (p.Gly4019Arg)	667	DST	Uncertain significance	rs540399392	RCV001245511;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56462678	56462678	C	T	6:g.56462678C>T	-
NM_001374736.1(DST):c.12043A>T (p.Ile4015Phe)	667	DST	Uncertain significance	rs201249286	RCV000820809\|RCV000998636;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56462690	56462690	T	A	6:g.56462690T>A	-
NM_001374736.1(DST):c.12043A>G (p.Ile4015Val)	667	DST	Uncertain significance	rs201249286	RCV001241533;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56462690	56462690	T	C	6:g.56462690T>C	-
NM_001374736.1(DST):c.12005A>C (p.Lys4002Thr)	667	DST	Uncertain significance	rs747125039	RCV001239299;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462728	56462728	T	G	6:g.56462728T>G	-
NM_001374736.1(DST):c.11995A>G (p.Asn3999Asp)	667	DST	Uncertain significance	rs763176189	RCV001241387;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56462738	56462738	T	C	6:g.56462738T>C	-
NM_001374736.1(DST):c.11980T>C (p.Leu3994=)	667	DST	Likely benign	-1	RCV002185383;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462753	56462753	A	G	56462753	-
NM_001374736.1(DST):c.11965A>G (p.Lys3989Glu)	667	DST	Uncertain significance	rs768047839	RCV001239099;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462768	56462768	T	C	6:g.56462768T>C	-
NM_001374736.1(DST):c.11964C>T (p.Thr3988=)	667	DST	Likely benign	-1	RCV001408402;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56462769	56462769	G	A	56462769	-
NM_001374736.1(DST):c.11950G>A (p.Glu3984Lys)	667	DST	Uncertain significance	rs753208447	RCV001247639;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56462783	56462783	C	T	6:g.56462783C>T	-
NM_001374736.1(DST):c.11949G>A (p.Leu3983=)	667	DST	Likely benign	-1	RCV001431541;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56462784	56462784	C	T	56462784	-
NM_001374736.1(DST):c.11941A>C (p.Lys3981Gln)	667	DST	Uncertain significance	rs149342331	RCV001245365;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56462792	56462792	T	G	6:g.56462792T>G	-
NM_001374736.1(DST):c.11928+7A>G	667	DST	Likely benign	-1	RCV002174151;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56463267	56463267	T	C	56463267	-
NM_001374736.1(DST):c.11928+5T>G	667	DST	Uncertain significance	rs2098413513	RCV001300085;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56463269	56463269	A	C	56463269	-
NM_001374736.1(DST):c.11928+1G>A	667	DST	Likely pathogenic	-1	RCV002042581;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56463273	56463273	C	T	56463273	-
NM_001374736.1(DST):c.11911A>C (p.Lys3971Gln)	667	DST	Uncertain significance	rs939547269	RCV001313558;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56463291	56463291	T	G	56463291	-
NM_001374736.1(DST):c.11907A>C (p.Ala3969=)	667	DST	Likely benign	-1	RCV002204883;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463295	56463295	T	G	56463295	-
NM_001374736.1(DST):c.11903C>T (p.Thr3968Ile)	667	DST	Uncertain significance	rs2098413772	RCV001312557;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463299	56463299	G	A	56463299	-
NM_001374736.1(DST):c.11875A>G (p.Lys3959Glu)	667	DST	Uncertain significance	-1	RCV001909712;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56463327	56463327	T	C	56463327	-
NM_001374736.1(DST):c.11863G>A (p.Ala3955Thr)	667	DST	Uncertain significance	rs751130956	RCV001242757;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463339	56463339	C	T	6:g.56463339C>T	-
NM_001374736.1(DST):c.11837T>A (p.Ile3946Lys)	667	DST	Uncertain significance	rs1475439102	RCV001343515;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463365	56463365	A	T	56463365	-
NM_001374736.1(DST):c.11836A>G (p.Ile3946Val)	667	DST	Uncertain significance	-1	RCV002036191;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463366	56463366	T	C	56463366	-
NM_001374736.1(DST):c.11831C>A (p.Ala3944Asp)	667	DST	Uncertain significance	rs181057912	RCV001324850;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463371	56463371	G	T	56463371	-
NM_001374736.1(DST):c.11792A>G (p.Gln3931Arg)	667	DST	Benign	rs4712138	RCV000602729\|RCV001510451\|RCV001597185\|RCV001662665\|RCV001700176;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154	6	56463410	56463410	T	C	6:g.56463410T>C	ClinGen:CA3868574	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.11760CTT[1] (p.Phe3921del)	667	DST	Uncertain significance	rs754940406	RCV001244952;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463437	56463439	TAAG	T	6:g.56463437_56463439del	-
NM_001374736.1(DST):c.11762T>G (p.Phe3921Cys)	667	DST	Uncertain significance	rs1276270340	RCV001321374;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56463440	56463440	A	C	56463440	-
NM_001374736.1(DST):c.11745G>A (p.Val3915=)	667	DST	Likely benign	-1	RCV001472126;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56463457	56463457	C	T	56463457	-
NM_001374736.1(DST):c.11736T>C (p.Ala3912=)	667	DST	Likely benign	-1	RCV002201758;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56463466	56463466	A	G	56463466	-
NM_001374736.1(DST):c.11719A>G (p.Ser3907Gly)	667	DST	Uncertain significance	-1	RCV002016202;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463483	56463483	T	C	56463483	-
NM_001374736.1(DST):c.11704A>G (p.Lys3902Glu)	667	DST	Uncertain significance	rs375330871	RCV001343513;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463498	56463498	T	C	56463498	-
NM_001374736.1(DST):c.11700A>G (p.Leu3900=)	667	DST	Likely benign	-1	RCV002142791;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56463502	56463502	T	C	56463502	-
NM_001374736.1(DST):c.11695-10G>A	667	DST	Likely benign	-1	RCV001407231;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56463517	56463517	C	T	56463517	-
NM_001374736.1(DST):c.11694+16C>G	667	DST	Benign	-1	RCV002138779;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56464851	56464851	G	C	56464851	-
NM_001374736.1(DST):c.11694+14T>A	667	DST	Likely benign	-1	RCV002135307;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56464853	56464853	A	T	56464853	-
NM_001374736.1(DST):c.11694+11G>T	667	DST	Benign	-1	RCV002146050;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56464856	56464856	C	A	56464856	-
NM_001374736.1(DST):c.11694+1_11694+2dup	667	DST	Uncertain significance	rs752591146	RCV001248400;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56464864	56464865	T	TAC	6:g.56464864_56464865insAC	-
NM_001374736.1(DST):c.11681A>C (p.Gln3894Pro)	667	DST	Uncertain significance	rs201696158	RCV000805934;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56464880	56464880	T	G	6:g.56464880T>G	-
NM_001374736.1(DST):c.11679T>C (p.Tyr3893=)	667	DST	Likely benign	-1	RCV001422569;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56464882	56464882	A	G	56464882	-
NM_001374736.1(DST):c.11678A>G (p.Tyr3893Cys)	667	DST	Uncertain significance	rs1276750380	RCV001246926;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56464883	56464883	T	C	6:g.56464883T>C	-
NM_001374736.1(DST):c.11658C>A (p.Gly3886=)	667	DST	Likely benign	-1	RCV001483459;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56464903	56464903	G	T	56464903	-
NM_001374736.1(DST):c.11648T>C (p.Ile3883Thr)	667	DST	Uncertain significance	rs536027788	RCV001243436;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56464913	56464913	A	G	6:g.56464913A>G	-
NM_001374736.1(DST):c.11642T>C (p.Phe3881Ser)	667	DST	Uncertain significance	-1	RCV001959746;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56464919	56464919	A	G	56464919	-
NM_001374736.1(DST):c.11617C>T (p.Arg3873Cys)	667	DST	Uncertain significance	-1	RCV001912523;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56464944	56464944	G	A	56464944	-
NM_001374736.1(DST):c.11616C>T (p.Asn3872=)	667	DST	Likely benign	-1	RCV002153245;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56464945	56464945	G	A	56464945	-
NM_001374736.1(DST):c.11594A>G (p.Asp3865Gly)	667	DST	Uncertain significance	-1	RCV001946334;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56464967	56464967	T	C	56464967	-
NM_001374736.1(DST):c.11581C>G (p.Gln3861Glu)	667	DST	Uncertain significance	-1	RCV002035780;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56464980	56464980	G	C	56464980	-
NM_001374736.1(DST):c.11567A>G (p.Tyr3856Cys)	667	DST	Uncertain significance	-1	RCV001982201;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56464994	56464994	T	C	56464994	-
NM_001374736.1(DST):c.11555G>A (p.Arg3852His)	667	DST	Uncertain significance	-1	RCV001957668;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56465006	56465006	C	T	56465006	-
NM_001374736.1(DST):c.11548G>A (p.Ala3850Thr)	667	DST	Uncertain significance	-1	RCV001910685;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56465013	56465013	C	T	56465013	-
NM_001374736.1(DST):c.11542-8C>T	667	DST	Conflicting interpretations of pathogenicity	rs370887046	RCV000979358\|RCV001085665;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56465027	56465027	G	A	6:g.56465027G>A	-
NM_001374736.1(DST):c.11542-9T>A	667	DST	Uncertain significance	-1	RCV001928960;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56465028	56465028	A	T	56465028	-
NM_001374736.1(DST):c.5283G>A (p.Lys1761=)	667	DST	Uncertain significance	rs1212618868	RCV001243369;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475225	56475225	C	T	6:g.56475225C>T	-
NM_001374736.1(DST):c.5275G>C (p.Glu1759Gln)	667	DST	Uncertain significance	-1	RCV001919239;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475233	56475233	C	G	56475233	-
NM_001374736.1(DST):c.5272G>A (p.Val1758Ile)	667	DST	Uncertain significance	rs1554488238	RCV000626087\|RCV001301178;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475236	56475236	C	T	6:g.56475236C>T	ClinGen:CA364561073	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.5271G>C (p.Lys1757Asn)	667	DST	Uncertain significance	rs1182335902	RCV001241316;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475237	56475237	C	G	6:g.56475237C>G	-
NM_001374736.1(DST):c.5266G>A (p.Val1756Ile)	667	DST	Uncertain significance	-1	RCV002020865;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475242	56475242	C	T	56475242	-
NM_001374736.1(DST):c.5265T>C (p.Asp1755=)	667	DST	Likely benign	-1	RCV002091010;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475243	56475243	A	G	56475243	-
NM_001374736.1(DST):c.5258C>T (p.Ser1753Leu)	667	DST	Uncertain significance	rs765577622	RCV001245436;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475250	56475250	G	A	6:g.56475250G>A	-
NM_001374736.1(DST):c.5244A>G (p.Gln1748=)	667	DST	Likely benign	-1	RCV002103963;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56475264	56475264	T	C	56475264	-
NM_001374736.1(DST):c.5243A>C (p.Gln1748Pro)	667	DST	Benign	-1	RCV001517024\|RCV001615196;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56475265	56475265	T	G	56475265	-
NM_001374736.1(DST):c.5234A>C (p.Lys1745Thr)	667	DST	Uncertain significance	rs540084594	RCV001242758;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475274	56475274	T	G	6:g.56475274T>G	-
NM_001374736.1(DST):c.5230C>A (p.Leu1744Met)	667	DST	Uncertain significance	-1	RCV001367019;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56475278	56475278	G	T	56475278	-
NM_001374736.1(DST):c.5207A>G (p.Tyr1736Cys)	667	DST	Uncertain significance	-1	RCV001989947;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475301	56475301	T	C	56475301	-
NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly)	667	DST	Uncertain significance	rs369218541	RCV001295128;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475305	56475305	T	C	56475305	-
NM_001374736.1(DST):c.5200G>A (p.Glu1734Lys)	667	DST	Uncertain significance	-1	RCV002012452;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56475308	56475308	C	T	56475308	-
NM_001374736.1(DST):c.5199G>A (p.Gln1733=)	667	DST	Likely benign	rs552582917	RCV001171863\|RCV001480170;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56475309	56475309	C	T	6:g.56475309C>T	-
NM_001374736.1(DST):c.5186T>G (p.Val1729Gly)	667	DST	Uncertain significance	-1	RCV001962705;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475322	56475322	A	C	56475322	-
NM_001374736.1(DST):c.5185G>A (p.Val1729Met)	667	DST	Uncertain significance	rs1236005807	RCV001301994;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475323	56475323	C	T	56475323	-
NM_001374736.1(DST):c.5182C>A (p.Gln1728Lys)	667	DST	Uncertain significance	rs768721876	RCV001244361\|RCV001508553;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56475326	56475326	G	T	6:g.56475326G>T	-
NM_001374736.1(DST):c.5173T>C (p.Leu1725=)	667	DST	Likely benign	-1	RCV001403840;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475335	56475335	A	G	56475335	-
NM_001374736.1(DST):c.5165G>T (p.Arg1722Ile)	667	DST	Uncertain significance	-1	RCV002029579;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475343	56475343	C	A	56475343	-
NM_001374736.1(DST):c.5155G>A (p.Asp1719Asn)	667	DST	Uncertain significance	rs770222634	RCV001242820;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475353	56475353	C	T	6:g.56475353C>T	-
NM_001374736.1(DST):c.5148-6A>G	667	DST	Likely benign	-1	RCV002083530;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475366	56475366	T	C	56475366	-
NM_001374736.1(DST):c.5148-8T>C	667	DST	Likely benign	-1	RCV001506757;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56475368	56475368	A	G	56475368	-
NM_001374736.1(DST):c.5145C>T (p.Asp1715=)	667	DST	Uncertain significance	rs374134272	RCV001246655;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56476308	56476308	G	A	6:g.56476308G>A	-
NM_001374736.1(DST):c.5110C>G (p.Gln1704Glu)	667	DST	Uncertain significance	rs2098544919	RCV001300051;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56476343	56476343	G	C	56476343	-
NM_001374736.1(DST):c.5106A>C (p.Ala1702=)	667	DST	Likely benign	-1	RCV001453041;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56476347	56476347	T	G	56476347	-
NM_001374736.1(DST):c.5100G>A (p.Ser1700=)	667	DST	Likely benign	-1	RCV001499833;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56476353	56476353	C	T	56476353	-
NM_001374736.1(DST):c.5099C>T (p.Ser1700Leu)	667	DST	Uncertain significance	rs763411218	RCV001240788;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56476354	56476354	G	A	6:g.56476354G>A	-
NM_001374736.1(DST):c.5098T>C (p.Ser1700Pro)	667	DST	Uncertain significance	rs369856118	RCV001301239;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56476355	56476355	A	G	56476355	-
NM_001374736.1(DST):c.5088G>A (p.Lys1696=)	667	DST	Likely benign	-1	RCV001497647;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56476365	56476365	C	T	56476365	-
NM_001374736.1(DST):c.5083A>G (p.Lys1695Glu)	667	DST	Uncertain significance	rs1447313948	RCV001241195;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56476370	56476370	T	C	6:g.56476370T>C	-
NM_001374736.1(DST):c.5081C>T (p.Thr1694Ile)	667	DST	Uncertain significance	-1	RCV002042965;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56476372	56476372	G	A	56476372	-
NM_001374736.1(DST):c.5077T>C (p.Ser1693Pro)	667	DST	Uncertain significance	rs763799764	RCV001243018;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56476376	56476376	A	G	6:g.56476376A>G	-
NM_001374736.1(DST):c.5076dup (p.Ser1693fs)	667	DST	Pathogenic	rs2098545189	RCV001239927;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56476376	56476377	A	AT	6:g.56476376_56476377insT	-
NM_001374736.1(DST):c.5059-17C>G	667	DST	Benign	-1	RCV001699615\|RCV001703328\|RCV002077128;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56476411	56476411	G	C	56476411	-
NM_001374736.1(DST):c.5058+9A>G	667	DST	Likely benign	-1	RCV002185149;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56479145	56479145	T	C	56479145	-
NM_001374736.1(DST):c.5048C>G (p.Ser1683Cys)	667	DST	Uncertain significance	-1	RCV001366246;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56479164	56479164	G	C	56479164	-
NM_001374736.1(DST):c.5040T>A (p.Pro1680=)	667	DST	Likely benign	-1	RCV002039023;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479172	56479172	A	T	56479172	-
NM_001374736.1(DST):c.5033G>C (p.Gly1678Ala)	667	DST	Uncertain significance	rs751524469	RCV001246459;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479179	56479179	C	G	6:g.56479179C>G	-
NM_001374736.1(DST):c.5029G>T (p.Ala1677Ser)	667	DST	Uncertain significance	rs370590691	RCV000801146\|RCV001759524;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56479183	56479183	C	A	6:g.56479183C>A	-
NM_001374736.1(DST):c.5015A>C (p.Lys1672Thr)	667	DST	Uncertain significance	-1	RCV002003699;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56479197	56479197	T	G	56479197	-
NM_001374736.1(DST):c.5006A>G (p.Lys1669Arg)	667	DST	Uncertain significance	-1	RCV002024235;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479206	56479206	T	C	56479206	-
NM_001374736.1(DST):c.4999A>G (p.Ile1667Val)	667	DST	Uncertain significance	rs756231158	RCV001243699;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479213	56479213	T	C	6:g.56479213T>C	-
NM_001374736.1(DST):c.4997A>T (p.Asn1666Ile)	667	DST	Conflicting interpretations of pathogenicity	rs183804748	RCV000872150\|RCV001086044;	N	MedGen:CN517202\|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56479215	56479215	T	A	6:g.56479215T>A	-
NM_001374736.1(DST):c.4990G>T (p.Val1664Leu)	667	DST	Benign/Likely benign	rs76257231	RCV000872213\|RCV001785746;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181\|MedGen:CN517202	6	56479222	56479222	C	A	6:g.56479222C>A	-
NM_001374736.1(DST):c.4958A>G (p.His1653Arg)	667	DST	Uncertain significance	-1	RCV001876888;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56479254	56479254	T	C	56479254	-
NM_001374736.1(DST):c.4930-11A>G	667	DST	Likely benign	-1	RCV002082154;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479293	56479293	T	C	56479293	-
NM_001374736.1(DST):c.4930-300A>T	667	DST	Likely benign	rs75951731	RCV000358324;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479582	56479582	T	A	6:g.56479582T>A	ClinGen:CA10627280	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-367C>T	667	DST	Uncertain significance	rs150986597	RCV000268213;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479649	56479649	G	A	6:g.56479649G>A	ClinGen:CA10622489	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-428G>A	667	DST	Uncertain significance	rs886061640	RCV000323446;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479710	56479710	C	T	6:g.56479710C>T	ClinGen:CA10624437	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-430A>G	667	DST	Uncertain significance	rs140470023	RCV000373387;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479712	56479712	T	C	NC_000006.11:g.56479712T>C	ClinGen:CA10622490	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-438G>C	667	DST	Uncertain significance	rs145471325	RCV000259792;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479720	56479720	C	G	NC_000006.11:g.56479720C>G	ClinGen:CA10624438	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-460A>G	667	DST	Uncertain significance	rs886061641	RCV000319691;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479742	56479742	T	C	NC_000006.11:g.56479742T>C	ClinGen:CA10627296	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-620A>C	667	DST	Uncertain significance	rs886061642	RCV000374394;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479902	56479902	T	G	NC_000006.11:g.56479902T>G	ClinGen:CA10624439	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-651G>A	667	DST	Uncertain significance	rs116219382	RCV000294052;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56479933	56479933	C	T	NC_000006.11:g.56479933C>T	ClinGen:CA10622496	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-772_4930-771dup	667	DST	Benign	rs3841165	RCV000389754\|RCV001683423;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56480052	56480053	T	TAA	NC_000006.11:g.56480062_56480063dup	ClinGen:CA10627286	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-771dup	667	DST	Benign	rs3841165	RCV000349231\|RCV001675867;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56480052	56480053	T	TA	NC_000006.11:g.56480063dup	ClinGen:CA10627297	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-864A>C	667	DST	Conflicting interpretations of pathogenicity	rs17674547	RCV000295359\|RCV001731629;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381\|MedGen:CN517202	6	56480146	56480146	T	G	NC_000006.11:g.56480146T>G	ClinGen:CA10627287	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-984G>A	667	DST	Uncertain significance	rs77216326	RCV000345667;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56480266	56480266	C	T	NC_000006.11:g.56480266C>T	ClinGen:CA3869861	C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-1037C>T	667	DST	Uncertain significance	rs773910675	RCV000814990;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56480319	56480319	G	A	6:g.56480319G>A	-
NM_001374736.1(DST):c.4930-1043A>G	667	DST	Uncertain significance	rs759049357	RCV000651738;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56480325	56480325	T	C	6:g.56480325T>C	ClinGen:CA364561909	C3809470 615425 Epidermolysis bullosa simplex, autosomal recessive 2;
NM_001374736.1(DST):c.4930-1049T>C	667	DST	Uncertain significance	rs374732834	RCV000651724;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56480331	56480331	A	G	NC_000006.11:g.56480331A>G	ClinGen:CA139204878	C3809470 615425 Epidermolysis bullosa simplex, autosomal recessive 2;
NM_001374736.1(DST):c.4930-1051C>A	667	DST	Uncertain significance	rs1187500129	RCV001233780;	N	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181	6	56480333	56480333	G	T	6:g.56480333G>T	-
NM_001374736.1(DST):c.4930-1051C>T	667	DST	Likely benign	-1	RCV002209704;	N	MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381	6	56480333