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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Deafness (D003638)
Parent Node: Nephritis, Hereditary (D009394)
..Starting node ..ALPORT SYNDROME, X-LINKED (OMIM:301050)
Child Nodes:
Sister Nodes:
..Alport syndrome, dominant type (C536586)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alport syndrome, recessive type (C536587)
..ALPORT SYNDROME, X-LINKED (OMIM:301050)
..Alport Syndrome-Like Hereditary Nephritis (C562890)
..Daentl Towsend Siegel syndrome (C535768)
..Deafness nephritis ano rectal malformation (C535996)
..Leiomyomatosis, esophageal and vulval, with nephropathy (C537113)
..Nephropathy, Progressive, with Deafness (C563713)
..Renal Failure, Progressive, with Hypertension (C562889)
..Salcedo syndrome (C537228)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

483

Name:

ALPORT SYNDROME, X-LINKED

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638|MESH:D009394

TreeNumbers:

C09.218.458.341.186/301050 |C10.597.751.418.341.186/301050 |C12.706.742/301050 |C12.777.419.570.620/301050 |C13.351.875.742/301050 |C13.351.968.419.570.620/301050 |C16.131.939.742/301050 |C17.300.200.517/301050 |C23.888.592.763.393.341.186/301050

Synonyms:

ATS |NEPHROPATHY AND DEAFNESS, X-LINKED

Slim Mappings:

Reference:

MedGen: 301050
MeSH: 301050
OMIM: 301050;

Genes: COL4A5;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001417	X-linked inheritance
3	HP:0011501	Anterior lenticonus
4	HP:0200020	Corneal erosion
5	HP:0000519	Developmental cataract
6	HP:0006756	Diffuse leiomyomatosis
7	HP:0030034	Glomerular basement membrane lamellation
8	HP:0001425	Heterogeneous
9	HP:0000822	Hypertension
10	HP:0000829	Hypoparathyroidism
11	HP:0008064	Ichthyosis
12	HP:0001142	Lenticonus
13	HP:0002907	Microscopic hematuria
14	HP:0000545	Myopia
15	HP:0000123	Nephritis
16	HP:0000100	Nephrotic syndrome
17	HP:0003676	Progressive
18	HP:0000093	Proteinuria
19	HP:0000083	Renal insufficiency
20	HP:0000407	Sensorineural hearing impairment
21	HP:0003774	Stage 5 chronic kidney disease
22	HP:0004722	Thickened glomerular basement membrane
23	HP:0001873	Thrombocytopenia

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
NM_033380.2(COL4A5):c.(?_-129378)_(81_?)del (p.?)	-1	-	Pathogenic	-1	RCV000021087;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107553978	107683436	-	-		dbVar:nssv7487011,dbVar:nsv1197444	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.(?_-202)-1982_(81_?)del	-1	-	Pathogenic	-1	RCV000032043;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107681172	107683436	NM_000495.4:c.(?_-202)-1982_(81_?)del			dbVar:nssv7487034,dbVar:nsv1197445	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.(?_-202)-1982_(81_?)del	-1	-	Pathogenic	-1	RCV000032045;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107681172	107683436	NM_000495.4:c.(?_-202)-1982_(81_?)del			dbVar:nssv7487035,dbVar:nsv1197446	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del	-1	-	Pathogenic	-1	RCV000021086;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107681416	107683436	NM_000495.4:c.(?_-202)-1738_(81_?)del			dbVar:nssv7487010,dbVar:nsv1197493	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del	-1	-	Pathogenic	-1	RCV000021089;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107681416	107683436	NM_000495.4:c.(?_-202)-1738_(81_?)del			dbVar:nssv7487012,dbVar:nsv1197477	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del	-1	-	Pathogenic	-1	RCV000021090;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107681416	107683436	NM_000495.4:c.(?_-202)-1738_(81_?)del			dbVar:nssv7487013,dbVar:nsv1197485	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del	-1	-	Pathogenic	-1	RCV000021091;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107681416	107683436	NM_000495.4:c.(?_-202)-1738_(81_?)del			dbVar:nssv7487014,dbVar:nsv1197486	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.3(COL4A5):c.1-?_5058+?del	-1	-	Pathogenic	-1	RCV000032046;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107681416	107939608	NM_000495.3:c.1-?_5058+?del			dbVar:nssv7487036,dbVar:nsv1197377	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1A>G (p.Met1Val)	1287	COL4A5	Pathogenic	104886050	RCV000021092;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107683356	107683356	NM_000495.4:c.1A>G	NP_000486.1:p.Met1Val	NC_000023.10:g.107683356A>G	ARUP_COL4A5:NM_000495.3:c.1A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2_3delTG (p.Met1Lysfs)	1287	COL4A5	Pathogenic	104886376	RCV000021103;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107683357	107683358	NM_000495.4:c.2_3delTG	NP_000486.1:p.Met1Lysfs	NC_000023.10:g.107683357_107683358delTG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.13G>T (p.Gly5Ter)	1287	COL4A5	Pathogenic	104886049	RCV000021104;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107683368	107683368	NM_000495.4:c.13G>T	NP_000486.1:p.Gly5Ter	NC_000023.10:g.107683368G>T	ARUP_COL4A5:NM_000495.3:c.13G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.38_41dupTCTT (p.Leu14Phefs)	1287	COL4A5	Pathogenic	104886408	RCV000021105;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107683393	107683396	NM_000495.4:c.38_41dupTCTT	NP_000486.1:p.Leu14Phefs	NC_000023.10:g.107683393_107683396dupTCTT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.49_50delCT (p.Leu17Glufs)	1287	COL4A5	Pathogenic	104886427	RCV000021106;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107683404	107683405	NM_000495.4:c.49_50delCT	NP_000486.1:p.Leu17Glufs	NC_000023.10:g.107683404_107683405delCT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.65_77delAGCCTGCAGAGGC (p.Gln22Leufs)	1287	COL4A5	Pathogenic	281874760	RCV000021107;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107683420	107683432	NM_000495.4:c.65_77delAGCCTGCAGAGGC	NP_000486.1:p.Gln22Leufs	NC_000023.10:g.107683420_107683432delAGCCTGCAGAGGC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.81+1G>C	1287	COL4A5	Pathogenic	281874765	RCV000021083;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107683437	107683437	NM_000495.4:c.81+1G>C		NC_000023.10:g.107683437G>C	ARUP_COL4A5:NM_000495.3:c.81+1G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.82-?_3373+?del	1287	COL4A5	Pathogenic	-1	RCV000021112;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107683437	107908736	NM_000495.4:c.82-?_3373+?del			-	C1567742 301050 Alport syndrome, X-linked recessive
COL4A5:c.82-?_141+?del (p.Ala28_Lys47del)	1287	COL4A5	Pathogenic	-1	RCV000021115;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107683437	107802293	NM_000495.4:c.82-?_141+?del			-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.82-?_1165+?del	1287	COL4A5	Pathogenic	-1	RCV000021110;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107782976	107829977	NM_000495.4:c.82-?_1165+?del			dbVar:nssv7487015,dbVar:nsv1197487	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.82-?_3246+?del	1287	COL4A5	Pathogenic	-1	RCV000021111;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107782976	107869579	NM_000495.4:c.82-?_3246+?del			dbVar:nssv7487016,dbVar:nsv1197488	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.82G>T (p.Ala28Ser)	1287	COL4A5	Pathogenic	869025333	RCV000207631;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107782976	107782976	NM_033380.2:c.82G>T	NP_203699.1:p.Ala28Ser	NC_000023.10:g.107782976G>T	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.87C>A (p.Cys29Ter)	1287	COL4A5	Pathogenic	104886048	RCV000021116;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107782981	107782981	NM_000495.4:c.87C>A	NP_000486.1:p.Cys29Ter	NC_000023.10:g.107782981C>A	ARUP_COL4A5:NM_000495.3:c.87C>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.90T>G (p.Tyr30Ter)	1287	COL4A5	Pathogenic	104886047	RCV000021117;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107782984	107782984	NM_000495.4:c.90T>G	NP_000486.1:p.Tyr30Ter	NC_000023.10:g.107782984T>G	ARUP_COL4A5:NM_000495.3:c.90T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.119delG (p.Cys40Serfs)	1287	COL4A5	Pathogenic	104886042	RCV000021118;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107783013	107783013	NM_000495.4:c.119delG	NP_000486.1:p.Cys40Serfs	NC_000023.10:g.107783013delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.142-?_3373+?del	1287	COL4A5	Pathogenic	-1	RCV000021120;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107783036	107908736	NM_000495.4:c.142-?_3373+?del			-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.142-?_2677+?del	1287	COL4A5	Pathogenic	-1	RCV000021121;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107783036	107865032	NM_000495.4:c.142-?_2677+?del			-	C1567742 301050 Alport syndrome, X-linked recessive
COL4A5:c.142-?_231+?del(p.Gly48_Lys77del)	1287	COL4A5	Pathogenic	-1	RCV000021124;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107783036	107807111	NM_000495.4:c.142-?_231+?del			dbVar:nssv7487017,dbVar:nsv1197489	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.142-1G>A	1287	COL4A5	Pathogenic	104886323	RCV000021119;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107802293	107802293	NM_000495.4:c.142-1G>A		NC_000023.10:g.107802293G>A	ARUP_COL4A5:NM_000495.3:c.142-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.142G>A (p.Gly48Arg)	1287	COL4A5	Pathogenic	281874669	RCV000021122;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107802294	107802294	NM_000495.4:c.142G>A	NP_000486.1:p.Gly48Arg	NC_000023.10:g.107802294G>A	ARUP_COL4A5:NM_000495.3:c.142G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.161G>A (p.Gly54Asp)	1287	COL4A5	Pathogenic	104886043	RCV000011211;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107802313	107802313	NM_000495.4:c.161G>A	NP_000486.1:p.Gly54Asp	NC_000023.10:g.107802313G>A	ARUP_COL4A5:NM_000495.3:c.161G>A,OMIM Allelic Variant:303630.0013	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.231+1G>A	1287	COL4A5	Pathogenic	104886349	RCV000021126;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107802384	107802384	NM_000495.4:c.231+1G>A		NC_000023.10:g.107802384G>A	ARUP_COL4A5:NM_000495.3:c.231+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.232-?_4510+?del	1287	COL4A5	Pathogenic	-1	RCV000021131;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107802384	107935977	NM_000495.4:c.232-?_4510+?del			-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.232-1G>T	1287	COL4A5	Pathogenic	104886350	RCV000021127;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107807111	107807111	NM_000495.4:c.232-1G>T		NC_000023.10:g.107807111G>A,NC_000023.10:g.107807111G>T	ARUP_COL4A5:NM_000495.3:c.232-1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.232-1G>A	1287	COL4A5	Pathogenic	104886350	RCV000021128;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107807111	107807111	NM_000495.4:c.232-1G>A		NC_000023.10:g.107807111G>A,NC_000023.10:g.107807111G>T	ARUP_COL4A5:NM_000495.3:c.232-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.232-?_2041+?del	1287	COL4A5	Pathogenic	-1	RCV000021129;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107807112	107844715	NM_000495.4:c.232-?_2041+?del			dbVar:nssv7487018,dbVar:nsv1197490	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.250delG (p.Pro85Hisfs)	1287	COL4A5	Pathogenic	104886044	RCV000021132;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107807130	107807130	NM_000495.4:c.250delG	NP_000486.1:p.Pro85Hisfs	NC_000023.10:g.107807130delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.276+5G>A	1287	COL4A5	Pathogenic	104886365	RCV000021133;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107807161	107807161	NM_000495.4:c.276+5G>A		NC_000023.10:g.107807161G>A	ARUP_COL4A5:NM_000495.3:c.276+5G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.277-1G>T	1287	COL4A5	Pathogenic	104886367	RCV000021134;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107811858	107811858	NM_000495.4:c.277-1G>T		NC_000023.10:g.107811858G>T	ARUP_COL4A5:NM_000495.3:c.277-1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.286G>A (p.Gly96Arg)	1287	COL4A5	Pathogenic	281874706	RCV000021136;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107811868	107811868	NM_000495.4:c.286G>A	NP_000486.1:p.Gly96Arg	NC_000023.10:g.107811868G>A	ARUP_COL4A5:NM_000495.3:c.286G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.293delC (p.Pro98Leufs)	1287	COL4A5	Pathogenic	104886045	RCV000021137;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107811875	107811875	NM_000495.4:c.293delC	NP_000486.1:p.Pro98Leufs	NC_000023.10:g.107811875delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.322-1G>A	1287	COL4A5	Pathogenic	104886375	RCV000021138;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107811988	107811988	NM_000495.4:c.322-1G>A		NC_000023.10:g.107811988G>A	ARUP_COL4A5:NM_000495.3:c.322-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.351_359delACCTCAAGG (p.Pro118_Gly120del)	1287	COL4A5	Pathogenic	104886390	RCV000021139;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107812018	107812026	NM_000495.4:c.351_359delACCTCAAGG	NP_000486.1:p.Pro118_Gly120del	NC_000023.10:g.107812018_107812026delACCTCAAGG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.368delG (p.Gly123Aspfs)	1287	COL4A5	Pathogenic	104886046	RCV000021140;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107812035	107812035	NM_000495.4:c.368delG	NP_000486.1:p.Gly123Aspfs	NC_000023.10:g.107812035delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.385-719G>A	1287	COL4A5	Pathogenic	104886396	RCV000021141;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107813924	107813924	NM_000495.4:c.385-719G>A		NC_000023.10:g.107813924G>A	ARUP_COL4A5:NM_000495.3:c.385-719G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.385-1G>C	1287	COL4A5	Pathogenic	104886395	RCV000021142;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814642	107814642	NM_000495.4:c.385-1G>C		NC_000023.10:g.107814642G>C	ARUP_COL4A5:NM_000495.3:c.385-1G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.385G>A (p.Gly129Arg)	1287	COL4A5	Pathogenic	281874722	RCV000021143;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814643	107814643	NM_000495.4:c.385G>A	NP_000486.1:p.Gly129Arg	NC_000023.10:g.107814643G>A	ARUP_COL4A5:NM_000495.3:c.385G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.386G>A (p.Gly129Glu)	1287	COL4A5	Pathogenic	281874723	RCV000021144;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814644	107814644	NM_000495.4:c.386G>A	NP_000486.1:p.Gly129Glu	NC_000023.10:g.107814644G>A,NC_000023.10:g.107814644G>T	ARUP_COL4A5:NM_000495.3:c.386G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.386G>T (p.Gly129Val)	1287	COL4A5	Pathogenic	281874723	RCV000021145;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814644	107814644	NM_000495.4:c.386G>T	NP_000486.1:p.Gly129Val	NC_000023.10:g.107814644G>A,NC_000023.10:g.107814644G>T	ARUP_COL4A5:NM_000495.3:c.386G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.388G>T (p.Glu130Ter)	1287	COL4A5	Pathogenic	104886051	RCV000021146;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814646	107814646	NM_000495.4:c.388G>T	NP_000486.1:p.Glu130Ter	NC_000023.10:g.107814646G>T	ARUP_COL4A5:NM_000495.3:c.388G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.430G>A (p.Gly144Ser)	1287	COL4A5	Pathogenic	104886052	RCV000021147;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814688	107814688	NM_000495.4:c.430G>A	NP_000486.1:p.Gly144Ser	NC_000023.10:g.107814688G>A,NC_000023.10:g.107814688G>C	ARUP_COL4A5:NM_000495.3:c.430G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.430G>C (p.Gly144Arg)	1287	COL4A5	Pathogenic	104886052	RCV000032049;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814688	107814688	NM_000495.4:c.430G>C	NP_000486.1:p.Gly144Arg	NC_000023.10:g.107814688G>A,NC_000023.10:g.107814688G>C	ARUP_COL4A5:NM_000495.3:c.430G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.431G>A (p.Gly144Asp)	1287	COL4A5	Pathogenic	281874737	RCV000021148;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814689	107814689	NM_000495.4:c.431G>A	NP_000486.1:p.Gly144Asp	NC_000023.10:g.107814689G>A	ARUP_COL4A5:NM_000495.3:c.431G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.438+2T>C	1287	COL4A5	Pathogenic	281874738	RCV000032050;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814698	107814698	NM_000495.4:c.438+2T>C		NC_000023.10:g.107814698T>C	ARUP_COL4A5:NM_000495.3:c.438+2T>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.438+5G>A	1287	COL4A5	Pathogenic	281874739	RCV000021149;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107814701	107814701	NM_000495.4:c.438+5G>A		NC_000023.10:g.107814701G>A	ARUP_COL4A5:NM_000495.3:c.438+5G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.440delG (p.Gly147Aspfs)	1287	COL4A5	Pathogenic	104886053	RCV000021150;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107815042	107815042	NM_000495.4:c.440delG	NP_000486.1:p.Gly147Aspfs	NC_000023.10:g.107815042delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.442dupC (p.Gly150Trpfs)	1287	COL4A5	Pathogenic	104886419	RCV000021151;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107815044	107815044	NM_000495.4:c.442dupC	NP_000486.1:p.Gly150Trpfs	NC_000023.10:g.107815044dupC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.446delC (p.Pro149Leufs)	1287	COL4A5	Pathogenic	104886054	RCV000021152;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107815048	107815048	NM_000495.4:c.446delC	NP_000486.1:p.Pro149Leufs	NC_000023.10:g.107815048delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.466-17T>G	1287	COL4A5	Pathogenic	104886415	RCV000021153;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816787	107816787	NM_000495.4:c.466-17T>G		NC_000023.10:g.107816787T>G	ARUP_COL4A5:NM_000495.3:c.466-17T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.466-12G>A	1287	COL4A5	Pathogenic	104886414	RCV000021154;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816792	107816792	NM_000495.4:c.466-12G>A		NC_000023.10:g.107816792G>A	ARUP_COL4A5:NM_000495.3:c.466-12G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.466-2A>G	1287	COL4A5	Pathogenic	104886416	RCV000021155;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816802	107816802	NM_000495.4:c.466-2A>G		NC_000023.10:g.107816802A>G	ARUP_COL4A5:NM_000495.3:c.466-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.476delG (p.Gly159Valfs)	1287	COL4A5	Pathogenic	281874748	RCV000032051;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816814	107816814	NM_000495.4:c.476delG	NP_000486.1:p.Gly159Valfs	NC_000023.10:g.107816814delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.520G>C (p.Gly174Arg)	1287	COL4A5	Pathogenic	104886055	RCV000021156;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816858	107816858	NM_000495.4:c.520G>C	NP_000486.1:p.Gly174Arg	NC_000023.10:g.107816858G>C	ARUP_COL4A5:NM_000495.3:c.520G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.529G>T (p.Gly177Cys)	1287	COL4A5	Pathogenic	104886056	RCV000021157;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816867	107816867	NM_000495.4:c.529G>T	NP_000486.1:p.Gly177Cys	NC_000023.10:g.107816867G>C,NC_000023.10:g.107816867G>T	ARUP_COL4A5:NM_000495.3:c.529G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.529G>C (p.Gly177Arg)	1287	COL4A5	Pathogenic	104886056	RCV000021158;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816867	107816867	NM_000495.4:c.529G>C	NP_000486.1:p.Gly177Arg	NC_000023.10:g.107816867G>C,NC_000023.10:g.107816867G>T	ARUP_COL4A5:NM_000495.3:c.529G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.533delC (p.Pro178Leufs)	1287	COL4A5	Pathogenic	104886058	RCV000021159;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816871	107816871	NM_000495.4:c.533delC	NP_000486.1:p.Pro178Leufs	NC_000023.10:g.107816871delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.538G>A (p.Gly180Arg)	1287	COL4A5	Pathogenic	281874755	RCV000021160;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816876	107816876	NM_000495.4:c.538G>A	NP_000486.1:p.Gly180Arg	NC_000023.10:g.107816876G>A	ARUP_COL4A5:NM_000495.3:c.538G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.546+1G>A	1287	COL4A5	Pathogenic	104886429	RCV000021162;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816885	107816885	NM_000495.4:c.546+1G>A		NC_000023.10:g.107816885G>A	ARUP_COL4A5:NM_000495.3:c.546+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.546+3_546+4insT (p.?)	1287	COL4A5	Pathogenic	104886430	RCV000021163;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107816887	107816888	NM_033380.2:c.546+3_546+4insT	NP_203699.1:p.?	NC_000023.10:g.107816887_107816888insT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.547-2A>G	1287	COL4A5	Pathogenic	281874756	RCV000021164;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819138	107819138	NM_000495.4:c.547-2A>G		NC_000023.10:g.107819138A>G	ARUP_COL4A5:NM_000495.3:c.547-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.547-1G>A	1287	COL4A5	Pathogenic	104886431	RCV000021165;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819139	107819139	NM_000495.4:c.547-1G>A		NC_000023.10:g.107819139G>A	ARUP_COL4A5:NM_000495.3:c.547-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.547dupG (p.Leu184Profs)	1287	COL4A5	Pathogenic	104886432	RCV000021166;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819140	107819140	NM_000495.4:c.547dupG	NP_000486.1:p.Leu184Profs	NC_000023.10:g.107819140dupG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.548G>T (p.Gly183Val)	1287	COL4A5	Pathogenic	104886059	RCV000021167;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819141	107819141	NM_000495.4:c.548G>T	NP_000486.1:p.Gly183Val	NC_000023.10:g.107819141G>T	ARUP_COL4A5:NM_000495.3:c.548G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.550dupC (p.Leu184Profs)	1287	COL4A5	Pathogenic	104886433	RCV000021168;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819143	107819143	NM_000495.4:c.550dupC	NP_000486.1:p.Leu184Profs	NC_000023.10:g.107819143dupC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.573_574insGA (p.Gly192Glufs)	1287	COL4A5	Pathogenic	281874757	RCV000032052;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819166	107819167	NM_000495.4:c.573_574insGA	NP_000486.1:p.Gly192Glufs	NC_000023.10:g.107819166_107819167insGA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.574G>A (p.Gly192Arg)	1287	COL4A5	Pathogenic	104886060	RCV000021169;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819167	107819167	NM_000495.4:c.574G>A	NP_000486.1:p.Gly192Arg	NC_000023.10:g.107819167G>A	ARUP_COL4A5:NM_000495.3:c.574G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.584G>A (p.Gly195Asp)	1287	COL4A5	Pathogenic	104886061	RCV000021170;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819177	107819177	NM_000495.4:c.584G>A	NP_000486.1:p.Gly195Asp	NC_000023.10:g.107819177G>A	ARUP_COL4A5:NM_000495.3:c.584G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.593G>A (p.Gly198Glu)	1287	COL4A5	Pathogenic	104886057	RCV000021171;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819186	107819186	NM_000495.4:c.593G>A	NP_000486.1:p.Gly198Glu	NC_000023.10:g.107819186G>A	ARUP_COL4A5:NM_000495.3:c.593G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.602G>T (p.Gly201Val)	1287	COL4A5	Pathogenic	104886062	RCV000021172;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819195	107819195	NM_000495.4:c.602G>T	NP_000486.1:p.Gly201Val	NC_000023.10:g.107819195G>T	ARUP_COL4A5:NM_000495.3:c.602G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.609+1G>A	1287	COL4A5	Pathogenic	104886434	RCV000021173;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819203	107819203	NM_000495.4:c.609+1G>A		NC_000023.10:g.107819203G>A	ARUP_COL4A5:NM_000495.3:c.609+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.609+21T>C	1287	COL4A5	Benign	6622333	RCV000021174;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107819223	107819223	NM_000495.4:c.609+21T>C		NC_000023.10:g.107819223T>C	ARUP_COL4A5:NM_000495.3:c.609+21T>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.610-2A>G	1287	COL4A5	Pathogenic	281874758	RCV000021176;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821180	107821180	NM_000495.4:c.610-2A>G		NC_000023.10:g.107821180A>G	ARUP_COL4A5:NM_000495.3:c.610-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.610_628del19 (p.Gly204Aspfs)	1287	COL4A5	Pathogenic	104886435	RCV000021177;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821182	107821200	NM_000495.4:c.610_628del19	NP_000486.1:p.Gly204Aspfs	NC_000023.10:g.107821182_107821200del19	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.611G>A (p.Gly204Asp)	1287	COL4A5	Pathogenic	104886063	RCV000021178;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821183	107821183	NM_000495.4:c.611G>A	NP_000486.1:p.Gly204Asp	NC_000023.10:g.107821183G>A,NC_000023.10:g.107821183G>T	ARUP_COL4A5:NM_000495.3:c.611G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.611G>T (p.Gly204Val)	1287	COL4A5	Pathogenic	104886063	RCV000021179;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821183	107821183	NM_000495.4:c.611G>T	NP_000486.1:p.Gly204Val	NC_000023.10:g.107821183G>A,NC_000023.10:g.107821183G>T	ARUP_COL4A5:NM_000495.3:c.611G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.611_612delGC (p.Gly204Alafs)	1287	COL4A5	Pathogenic	281874759	RCV000021180;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821183	107821184	NM_000495.4:c.611_612delGC	NP_000486.1:p.Gly204Alafs	NC_000023.10:g.107821183_107821184delGC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.634delC (p.Pro212Glnfs)	1287	COL4A5	Pathogenic	104886065	RCV000021181;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821206	107821206	NM_000495.4:c.634delC	NP_000486.1:p.Pro212Glnfs	NC_000023.10:g.107821206delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.638G>A (p.Gly213Glu)	1287	COL4A5	Pathogenic	104886066	RCV000021182;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821210	107821210	NM_000495.4:c.638G>A	NP_000486.1:p.Gly213Glu	NC_000023.10:g.107821210G>A	ARUP_COL4A5:NM_000495.3:c.638G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.646-12_646-11delTT	1287	COL4A5	Pathogenic	104886436	RCV000021183;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821296	107821297	NM_000495.4:c.646-12_646-11delTT		NC_000023.10:g.107821296_107821297delTT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.646-3C>A	1287	COL4A5	Pathogenic	104886437	RCV000021184;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821305	107821305	NM_000495.4:c.646-3C>A		NC_000023.10:g.107821305C>A	ARUP_COL4A5:NM_000495.3:c.646-3C>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.646G>A (p.Gly216Arg)	1287	COL4A5	Pathogenic	104886067	RCV000021185;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821308	107821308	NM_000495.4:c.646G>A	NP_000486.1:p.Gly216Arg	NC_000023.10:g.107821308G>A	ARUP_COL4A5:NM_000495.3:c.646G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.647G>T (p.Gly216Val)	1287	COL4A5	Pathogenic	104886074	RCV000021186;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821309	107821309	NM_000495.4:c.647G>T	NP_000486.1:p.Gly216Val	NC_000023.10:g.107821309G>T	ARUP_COL4A5:NM_000495.3:c.647G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.647_648dupGG (p.Asn217Glyfs)	1287	COL4A5	Pathogenic	104886438	RCV000021187;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821309	107821310	NM_000495.4:c.647_648dupGG	NP_000486.1:p.Asn217Glyfs	NC_000023.10:g.107821309_107821310dupGG,NC_000023.10:g.107821310dupG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.648dupG (p.Asn217Glufs)	1287	COL4A5	Pathogenic	104886438	RCV000021188;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821310	107821310	NM_000495.4:c.648dupG	NP_000486.1:p.Asn217Glufs	NC_000023.10:g.107821309_107821310dupGG,NC_000023.10:g.107821310dupG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.655G>A (p.Gly219Ser)	1287	COL4A5	Pathogenic	104886075	RCV000021189;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821317	107821317	NM_000495.4:c.655G>A	NP_000486.1:p.Gly219Ser	NC_000023.10:g.107821317G>A	ARUP_COL4A5:NM_000495.3:c.655G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.665T>G (p.Phe222Cys)	1287	COL4A5	Pathogenic	281874761	RCV000032053;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821327	107821327	NM_000495.4:c.665T>G	NP_000486.1:p.Phe222Cys	NC_000023.10:g.107821327T>G	ARUP_COL4A5:NM_000495.3:c.665T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.682G>T (p.Glu228Ter)	1287	COL4A5	Pathogenic	281874762	RCV000032054;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821344	107821344	NM_000495.4:c.682G>T	NP_000486.1:p.Glu228Ter	NC_000023.10:g.107821344G>T	ARUP_COL4A5:NM_000495.3:c.682G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.687+1G>A	1287	COL4A5	Pathogenic	104886440	RCV000021190;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821350	107821350	NM_000495.4:c.687+1G>A		NC_000023.10:g.107821350G>A	ARUP_COL4A5:NM_000495.3:c.687+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.688-3C>G	1287	COL4A5	Pathogenic	104886441	RCV000021191;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821518	107821518	NM_000495.4:c.688-3C>G		NC_000023.10:g.107821518C>G	ARUP_COL4A5:NM_000495.3:c.688-3C>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.688G>C (p.Gly230Arg)	1287	COL4A5	Pathogenic	104886076	RCV000021192;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821521	107821521	NM_000495.4:c.688G>C	NP_000486.1:p.Gly230Arg	NC_000023.10:g.107821521G>C	ARUP_COL4A5:NM_000495.3:c.688G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.689delG (p.Gly230Valfs)	1287	COL4A5	Pathogenic	104886077	RCV000021193;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821522	107821522	NM_000495.4:c.689delG	NP_000486.1:p.Gly230Valfs	NC_000023.10:g.107821522delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.689G>A (p.Gly230Asp)	1287	COL4A5	Pathogenic	281874763	RCV000021194;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821522	107821522	NM_000495.4:c.689G>A	NP_000486.1:p.Gly230Asp	NC_000023.10:g.107821522G>A	ARUP_COL4A5:NM_000495.3:c.689G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.716G>A (p.Gly239Glu)	1287	COL4A5	Pathogenic	104886068	RCV000021195;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821549	107821549	NM_000495.4:c.716G>A	NP_000486.1:p.Gly239Glu	NC_000023.10:g.107821549G>A	ARUP_COL4A5:NM_000495.3:c.716G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.761_762delAG (p.Glu254Valfs)	1287	COL4A5	Pathogenic	104886443	RCV000021196;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821594	107821595	NM_000495.4:c.761_762delAG	NP_000486.1:p.Glu254Valfs	NC_000023.10:g.107821594_107821595delAG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.780+2T>G	1287	COL4A5	Pathogenic	104886444	RCV000021197;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107821615	107821615	NM_000495.4:c.780+2T>G		NC_000023.10:g.107821615T>G	ARUP_COL4A5:NM_000495.3:c.780+2T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.3(COL4A5):c.781-1_786delGGGACTT (p.?)	1287	COL4A5	Pathogenic	104886445	RCV000021198;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823762	107823768	NM_033380.2:c.781-1_786del	NP_203699.1:p.?	NC_000023.10:g.107823762_107823768delGGGACTT	ARUP_COL4A5:NM_000495.3:c.781-1del7,COL4A5 homepage - Collagen, type IV, alpha: COL4A5_00224	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.788delC (p.Pro263Leufs)	1287	COL4A5	Pathogenic	281874764	RCV000032055;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823770	107823770	NM_000495.4:c.788delC	NP_000486.1:p.Pro263Leufs	NC_000023.10:g.107823770delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.790G>C (p.Gly264Arg)	1287	COL4A5	Pathogenic	104886069	RCV000021201;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823772	107823772	NM_000495.4:c.790G>C	NP_000486.1:p.Gly264Arg	NC_000023.10:g.107823772G>C	ARUP_COL4A5:NM_000495.3:c.790G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.791G>A (p.Gly264Asp)	1287	COL4A5	Pathogenic	104886070	RCV000021202;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823773	107823773	NM_000495.4:c.791G>A	NP_000486.1:p.Gly264Asp	NC_000023.10:g.107823773G>A	ARUP_COL4A5:NM_000495.3:c.791G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.796C>T (p.Arg266Ter)	1287	COL4A5	Pathogenic	104886071	RCV000021203;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823778	107823778	NM_000495.4:c.796C>T	NP_000486.1:p.Arg266Ter	NC_000023.10:g.107823778C>T	ARUP_COL4A5:NM_000495.3:c.796C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.812delC (p.Pro271Leufs)	1287	COL4A5	Pathogenic	104886072	RCV000021204;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823794	107823794	NM_000495.4:c.812delC	NP_000486.1:p.Pro271Leufs	NC_000023.10:g.107823794delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.834+1G>A	1287	COL4A5	Pathogenic	104886446	RCV000021205;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823817	107823817	NM_000495.4:c.834+1G>A		NC_000023.10:g.107823817G>A	ARUP_COL4A5:NM_000495.3:c.834+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.834+5G>T	1287	COL4A5	Pathogenic	104886442	RCV000021206;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823821	107823821	NM_000495.4:c.834+5G>T		NC_000023.10:g.107823821G>T	ARUP_COL4A5:NM_000495.3:c.834+5G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.859G>T (p.Glu287Ter)	1287	COL4A5	Pathogenic	104886447	RCV000021207;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823936	107823936	NM_000495.4:c.859G>T	NP_000486.1:p.Glu287Ter	NC_000023.10:g.107823936G>T	ARUP_COL4A5:NM_000495.3:c.859G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.866G>T (p.Gly289Val)	1287	COL4A5	Pathogenic	104886450	RCV000011210; RCV000021208;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823943	107823943	NM_000495.4:c.866G>T	NP_000486.1:p.Gly289Val	NC_000023.10:g.107823943G>T	ARUP_COL4A5:NM_000495.3:c.866G>T,OMIM Allelic Variant:303630.0012	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.866G>T (p.Gly289Val)	1287	COL4A5	Pathogenic	104886450	RCV000011210; RCV000021208;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823943	107823943	NM_000495.4:c.866G>T	NP_000486.1:p.Gly289Val	NC_000023.10:g.107823943G>T	ARUP_COL4A5:NM_000495.3:c.866G>T,OMIM Allelic Variant:303630.0012	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.866delG (p.Gly289Valfs)	1287	COL4A5	Pathogenic	281874766	RCV000021209;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823943	107823943	NM_000495.4:c.866delG	NP_000486.1:p.Gly289Valfs	NC_000023.10:g.107823943delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.873delA (p.Gly292Glufs)	1287	COL4A5	Pathogenic	281874767	RCV000021210;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823950	107823950	NM_000495.4:c.873delA	NP_000486.1:p.Gly292Glufs	NC_000023.10:g.107823950delA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.874G>C (p.Gly292Arg)	1287	COL4A5	Pathogenic	104886073	RCV000021211;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823951	107823951	NM_000495.4:c.874G>C	NP_000486.1:p.Gly292Arg	NC_000023.10:g.107823951G>C	ARUP_COL4A5:NM_000495.3:c.874G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.875G>T (p.Gly292Val)	1287	COL4A5	Pathogenic	104886078	RCV000021212;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823952	107823952	NM_000495.4:c.875G>T	NP_000486.1:p.Gly292Val	NC_000023.10:g.107823952G>T	ARUP_COL4A5:NM_000495.3:c.875G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.875delG (p.Gly292Glufs)	1287	COL4A5	Pathogenic	281874768	RCV000021213;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823952	107823952	NM_000495.4:c.875delG	NP_000486.1:p.Gly292Glufs	NC_000023.10:g.107823952delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.884G>A (p.Gly295Asp)	1287	COL4A5	Pathogenic	104886079	RCV000021214;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823961	107823961	NM_000495.4:c.884G>A	NP_000486.1:p.Gly295Asp	NC_000023.10:g.107823961G>A	ARUP_COL4A5:NM_000495.3:c.884G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.891+1G>A	1287	COL4A5	Pathogenic	104886451	RCV000021215;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107823969	107823969	NM_000495.4:c.891+1G>A		NC_000023.10:g.107823969G>A	ARUP_COL4A5:NM_000495.3:c.891+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.892-2A>G	1287	COL4A5	Pathogenic	104886453	RCV000021216;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107824211	107824211	NM_000495.4:c.892-2A>G		NC_000023.10:g.107824211A>G	ARUP_COL4A5:NM_000495.3:c.892-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.892-1G>C	1287	COL4A5	Pathogenic	104886452	RCV000021217;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107824212	107824212	NM_000495.4:c.892-1G>C		NC_000023.10:g.107824212G>C	ARUP_COL4A5:NM_000495.3:c.892-1G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.892G>A (p.Gly298Ser)	1287	COL4A5	Pathogenic	104886080	RCV000021218;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107824213	107824213	NM_000495.4:c.892G>A	NP_000486.1:p.Gly298Ser	NC_000023.10:g.107824213G>A	ARUP_COL4A5:NM_000495.3:c.892G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.913G>T (p.Glu305Ter)	1287	COL4A5	Pathogenic	104886081	RCV000021219;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107824234	107824234	NM_000495.4:c.913G>T	NP_000486.1:p.Glu305Ter	NC_000023.10:g.107824234G>T	ARUP_COL4A5:NM_000495.3:c.913G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.920G>A (p.Gly307Asp)	1287	COL4A5	Pathogenic	104886082	RCV000021220;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107824241	107824241	NM_000495.4:c.920G>A	NP_000486.1:p.Gly307Asp	NC_000023.10:g.107824241G>A	ARUP_COL4A5:NM_000495.3:c.920G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.928G>A (p.Gly310Arg)	1287	COL4A5	Pathogenic	104886083	RCV000021221;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107824249	107824249	NM_000495.4:c.928G>A	NP_000486.1:p.Gly310Arg	NC_000023.10:g.107824249G>A	ARUP_COL4A5:NM_000495.3:c.928G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.937-1G>A	1287	COL4A5	Pathogenic	104886448	RCV000021222;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826113	107826113	NM_000495.4:c.937-1G>A		NC_000023.10:g.107826113G>A	ARUP_COL4A5:NM_000495.3:c.937-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.937-?_990+?del (p.Gly313_Lys330del)	1287	COL4A5	Pathogenic	-1	RCV000021223;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826114	107826167	NM_000495.4:c.(?_937)_(990_?)del	NP_000486.1:p.(?)		dbVar:nssv7487019,dbVar:nsv1197491	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.937G>A (p.Gly313Ser)	1287	COL4A5	Pathogenic	104886084	RCV000021224;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826114	107826114	NM_000495.4:c.937G>A	NP_000486.1:p.Gly313Ser	NC_000023.10:g.107826114G>A	ARUP_COL4A5:NM_000495.3:c.937G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.945dupT (p.Gly316Trpfs)	1287	COL4A5	Pathogenic	104886449	RCV000021225;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826122	107826122	NM_000495.4:c.945dupT	NP_000486.1:p.Gly316Trpfs	NC_000023.10:g.107826122dupT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.955G>C (p.Gly319Arg)	1287	COL4A5	Pathogenic	104886085	RCV000021226;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826132	107826132	NM_000495.4:c.955G>C	NP_000486.1:p.Gly319Arg	NC_000023.10:g.107826132G>C	ARUP_COL4A5:NM_000495.3:c.955G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.956G>A (p.Gly319Asp)	1287	COL4A5	Pathogenic	104886086	RCV000021227;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826133	107826133	NM_000495.4:c.956G>A	NP_000486.1:p.Gly319Asp	NC_000023.10:g.107826133G>A	ARUP_COL4A5:NM_000495.3:c.956G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.960C>A (p.Tyr320Ter)	1287	COL4A5	Pathogenic	281874769	RCV000021228;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826137	107826137	NM_000495.4:c.960C>A	NP_000486.1:p.Tyr320Ter	NC_000023.10:g.107826137C>A	ARUP_COL4A5:NM_000495.3:c.960C>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.970C>T (p.Pro324Ser)	1287	COL4A5	Benign	104886087	RCV000021229;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826147	107826147	NM_000495.4:c.970C>T	NP_000486.1:p.Pro324Ser	NC_000023.10:g.107826147C>T	ARUP_COL4A5:NM_000495.3:c.970C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.973G>A (p.Gly325Arg)	1287	COL4A5	Pathogenic	104886088	RCV000011205;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826150	107826150	NM_000495.4:c.973G>A	NP_000486.1:p.Gly325Arg	NC_000023.10:g.107826150G>A,NC_000023.10:g.107826150G>T	ARUP_COL4A5:NM_000495.3:c.973G>A,OMIM Allelic Variant:303630.0007	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.973G>T (p.Gly325Ter)	1287	COL4A5	Pathogenic	104886088	RCV000021231;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826150	107826150	NM_000495.4:c.973G>T	NP_000486.1:p.Gly325Ter	NC_000023.10:g.107826150G>A,NC_000023.10:g.107826150G>T	ARUP_COL4A5:NM_000495.3:c.973G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.974G>A (p.Gly325Glu)	1287	COL4A5	Pathogenic	104886091	RCV000011209;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107826151	107826151	NM_000495.4:c.974G>A	NP_000486.1:p.Gly325Glu	NC_000023.10:g.107826151G>A	ARUP_COL4A5:NM_000495.3:c.974G>A,OMIM Allelic Variant:303630.0011	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.992G>T (p.Gly331Val)	1287	COL4A5	Pathogenic	104886092	RCV000021233;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107827715	107827715	NM_000495.4:c.992G>T	NP_000486.1:p.Gly331Val	NC_000023.10:g.107827715G>T	ARUP_COL4A5:NM_000495.3:c.992G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1001G>T (p.Gly334Val)	1287	COL4A5	Pathogenic	104886093	RCV000021234;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107827724	107827724	NM_000495.4:c.1001G>T	NP_000486.1:p.Gly334Val	NC_000023.10:g.107827724G>T	ARUP_COL4A5:NM_000495.3:c.1001G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.1010G>T (p.Gly337Val)	1287	COL4A5	Pathogenic	869025334	RCV000207794;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107827733	107827733	NM_033380.2:c.1010G>T	NP_203699.1:p.Gly337Val	NC_000023.10:g.107827733G>T	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1032+3_1032+6delAAGT	1287	COL4A5	Pathogenic	104886314	RCV000021235;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107827758	107827761	NM_000495.4:c.1032+3_1032+6delAAGT		NC_000023.10:g.107827758_107827761delAAGT	ARUP_COL4A5:NM_000495.3:c.1032+3_1032+6delAAGT	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1032+5G>T	1287	COL4A5	Pathogenic	104886315	RCV000021236;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107827760	107827760	NM_000495.4:c.1032+5G>T		NC_000023.10:g.107827760G>T	ARUP_COL4A5:NM_000495.3:c.1032+5G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1033-15delT	1287	COL4A5	Benign	104886089	RCV000021237;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829830	107829830	NM_000495.4:c.1033-15delT		NC_000023.10:g.107829830delT	ARUP_COL4A5:NM_000495.3:c.1033-15delT	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.1033-6A>G	1287	COL4A5	Likely pathogenic	869025330	RCV000207933;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829839	107829839	NM_033380.2:c.1033-6A>G		NC_000023.10:g.107829839A>G	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1060dupA (p.Thr354Asnfs)	1287	COL4A5	Pathogenic	281874655	RCV000021239;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829872	107829872	NM_000495.4:c.1060dupA	NP_000486.1:p.Thr354Asnfs	NC_000023.10:g.107829872dupA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1062dupT (p.Ile355Tyrfs)	1287	COL4A5	Pathogenic	104886316	RCV000021240;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829874	107829874	NM_000495.4:c.1062dupT	NP_000486.1:p.Ile355Tyrfs	NC_000023.10:g.107829874dupT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1074delA (p.Gly359Glufs)	1287	COL4A5	Pathogenic	104886095	RCV000021241;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829886	107829886	NM_000495.4:c.1074delA	NP_000486.1:p.Gly359Glufs	NC_000023.10:g.107829886delA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1084G>A (p.Gly362Arg)	1287	COL4A5	Pathogenic	281874656	RCV000021242;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829896	107829896	NM_000495.4:c.1084G>A	NP_000486.1:p.Gly362Arg	NC_000023.10:g.107829896G>A	ARUP_COL4A5:NM_000495.3:c.1084G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1094G>A (p.Gly365Glu)	1287	COL4A5	Pathogenic	104886096	RCV000021243;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829906	107829906	NM_000495.4:c.1094G>A	NP_000486.1:p.Gly365Glu	NC_000023.10:g.107829906G>A	ARUP_COL4A5:NM_000495.3:c.1094G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1095G>C (p.Gly365=)	1287	COL4A5	Benign	2272945	RCV000021244;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829907	107829907	NM_000495.4:c.1095G>C	NP_000486.1:p.Gly365=	NC_000023.10:g.107829907G>C	ARUP_COL4A5:NM_000495.3:c.1095G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1112G>A (p.Gly371Glu)	1287	COL4A5	Pathogenic	104886097	RCV000021245;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829924	107829924	NM_000495.4:c.1112G>A	NP_000486.1:p.Gly371Glu	NC_000023.10:g.107829924G>A	ARUP_COL4A5:NM_000495.3:c.1112G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1117C>T (p.Arg373Ter)	1287	COL4A5	Pathogenic	104886094	RCV000021246;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829929	107829929	NM_000495.4:c.1117C>T	NP_000486.1:p.Arg373Ter	NC_000023.10:g.107829929C>T	ARUP_COL4A5:NM_000495.3:c.1117C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1121G>C (p.Gly374Ala)	1287	COL4A5	Pathogenic	104886108	RCV000021247;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829933	107829933	NM_000495.4:c.1121G>C	NP_000486.1:p.Gly374Ala	NC_000023.10:g.107829933G>C	ARUP_COL4A5:NM_000495.3:c.1121G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1135C>T (p.Gln379Ter)	1287	COL4A5	Pathogenic	281874657	RCV000032056;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829947	107829947	NM_000495.4:c.1135C>T	NP_000486.1:p.Gln379Ter	NC_000023.10:g.107829947C>T	ARUP_COL4A5:NM_000495.3:c.1135C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1139G>A (p.Gly380Asp)	1287	COL4A5	Pathogenic	104886098	RCV000021248;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829951	107829951	NM_000495.4:c.1139G>A	NP_000486.1:p.Gly380Asp	NC_000023.10:g.107829951G>A	ARUP_COL4A5:NM_000495.3:c.1139G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1148G>A (p.Gly383Asp)	1287	COL4A5	Pathogenic	104886105	RCV000021249;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829960	107829960	NM_000495.4:c.1148G>A	NP_000486.1:p.Gly383Asp	NC_000023.10:g.107829960G>A	ARUP_COL4A5:NM_000495.3:c.1148G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1165+1G>A	1287	COL4A5	Pathogenic	104886317	RCV000021250;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829978	107829978	NM_000495.4:c.1165+1G>A		NC_000023.10:g.107829978G>A	ARUP_COL4A5:NM_000495.3:c.1165+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1165+2T>G	1287	COL4A5	Pathogenic	104886324	RCV000021251;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107829979	107829979	NM_000495.4:c.1165+2T>G		NC_000023.10:g.107829979T>G	ARUP_COL4A5:NM_000495.3:c.1165+2T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1181delG (p.Gly394Valfs)	1287	COL4A5	Pathogenic	281874658	RCV000021255;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834303	107834303	NM_000495.4:c.1181delG	NP_000486.1:p.Gly394Valfs	NC_000023.10:g.107834303delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1191C>G (p.Gly397=)	1287	COL4A5	Benign	104886106	RCV000021256;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834313	107834313	NM_000495.4:c.1191C>G	NP_000486.1:p.Gly397=	NC_000023.10:g.107834313C>G	ARUP_COL4A5:NM_000495.3:c.1191C>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1199G>A (p.Gly400Glu)	1287	COL4A5	Pathogenic	104886107	RCV000021257;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834321	107834321	NM_000495.4:c.1199G>A	NP_000486.1:p.Gly400Glu	NC_000023.10:g.107834321G>A	ARUP_COL4A5:NM_000495.3:c.1199G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1208G>T (p.Gly403Val)	1287	COL4A5	Pathogenic	104886099	RCV000021258;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834330	107834330	NM_000495.4:c.1208G>T	NP_000486.1:p.Gly403Val	NC_000023.10:g.107834330G>T	ARUP_COL4A5:NM_000495.3:c.1208G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1213dupA (p.Arg405Lysfs)	1287	COL4A5	Pathogenic	281874659	RCV000021259;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834335	107834335	NM_000495.4:c.1213dupA	NP_000486.1:p.Arg405Lysfs	NC_000023.10:g.107834335dupA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1214_1215insA (p.Gln407Serfs)	1287	COL4A5	Pathogenic	104886325	RCV000021260;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834336	107834337	NM_000495.4:c.1214_1215insA	NP_000486.1:p.Gln407Serfs	NC_000023.10:g.107834336_107834337insA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1216G>A (p.Gly406Ser)	1287	COL4A5	Pathogenic	281874660	RCV000032057;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834338	107834338	NM_000495.4:c.1216G>A	NP_000486.1:p.Gly406Ser	NC_000023.10:g.107834338G>A	ARUP_COL4A5:NM_000495.3:c.1216G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1217G>T (p.Gly406Val)	1287	COL4A5	Pathogenic	104886100	RCV000021262;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834339	107834339	NM_000495.4:c.1217G>T	NP_000486.1:p.Gly406Val	NC_000023.10:g.107834339G>T	ARUP_COL4A5:NM_000495.3:c.1217G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1219C>T (p.Gln407Ter)	1287	COL4A5	Pathogenic	281874661	RCV000021263;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834341	107834341	NM_000495.4:c.1219C>T	NP_000486.1:p.Gln407Ter	NC_000023.10:g.107834341C>T	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1222A>T (p.Lys408Ter)	1287	COL4A5	Pathogenic	281874662	RCV000021264;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834344	107834344	NM_000495.4:c.1222A>T	NP_000486.1:p.Lys408Ter	NC_000023.10:g.107834344A>T	ARUP_COL4A5:NM_000495.3:c.1222A>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1226G>A (p.Gly409Asp)	1287	COL4A5	Pathogenic	104886101	RCV000021265;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834348	107834348	NM_000495.4:c.1226G>A	NP_000486.1:p.Gly409Asp	NC_000023.10:g.107834348G>A	ARUP_COL4A5:NM_000495.3:c.1226G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1235G>T (p.Gly412Val)	1287	COL4A5	Pathogenic	104886102	RCV000021266;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834357	107834357	NM_000495.4:c.1235G>T	NP_000486.1:p.Gly412Val	NC_000023.10:g.107834357G>T	ARUP_COL4A5:NM_000495.3:c.1235G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1243G>A (p.Gly415Arg)	1287	COL4A5	Pathogenic	104886103	RCV000021267;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834365	107834365	NM_000495.4:c.1243G>A	NP_000486.1:p.Gly415Arg	NC_000023.10:g.107834365G>A	ARUP_COL4A5:NM_000495.3:c.1243G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1254delT (p.Pro419Leufs)	1287	COL4A5	Pathogenic	104886104	RCV000021268;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834376	107834376	NM_000495.4:c.1254delT	NP_000486.1:p.Pro419Leufs	NC_000023.10:g.107834376delT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1259G>A (p.Gly420Glu)	1287	COL4A5	Pathogenic	281874663	RCV000021269;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834381	107834381	NM_000495.4:c.1259G>A	NP_000486.1:p.Gly420Glu	NC_000023.10:g.107834381G>A	ARUP_COL4A5:NM_000495.3:c.1259G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1265delC (p.Pro422Leufs)	1287	COL4A5	Pathogenic	104886109	RCV000021270;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834387	107834387	NM_000495.4:c.1265delC	NP_000486.1:p.Pro422Leufs	NC_000023.10:g.107834387delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1268G>A (p.Gly423Glu)	1287	COL4A5	Pathogenic	104886110	RCV000021271;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834390	107834390	NM_000495.4:c.1268G>A	NP_000486.1:p.Gly423Glu	NC_000023.10:g.107834390G>A	ARUP_COL4A5:NM_000495.3:c.1268G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1276G>A (p.Gly426Arg)	1287	COL4A5	Pathogenic	104886111	RCV000021272;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834398	107834398	NM_000495.4:c.1276G>A	NP_000486.1:p.Gly426Arg	NC_000023.10:g.107834398G>A	ARUP_COL4A5:NM_000495.3:c.1276G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1280dupA (p.Pro428Alafs)	1287	COL4A5	Pathogenic	104886327	RCV000021273;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834402	107834402	NM_000495.4:c.1280dupA	NP_000486.1:p.Pro428Alafs	NC_000023.10:g.107834402dupA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1286G>A (p.Gly429Glu)	1287	COL4A5	Pathogenic	104886112	RCV000021274;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834408	107834408	NM_000495.4:c.1286G>A	NP_000486.1:p.Gly429Glu	NC_000023.10:g.107834408G>A	ARUP_COL4A5:NM_000495.3:c.1286G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1294G>A (p.Gly432Arg)	1287	COL4A5	Pathogenic	281874664	RCV000021276;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834416	107834416	NM_000495.4:c.1294G>A	NP_000486.1:p.Gly432Arg	NC_000023.10:g.107834416G>A	ARUP_COL4A5:NM_000495.3:c.1294G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1331T>G (p.Ile444Ser)	1287	COL4A5	Benign	2272946	RCV000021277;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834453	107834453	NM_000495.4:c.1331T>G	NP_000486.1:p.Ile444Ser	NC_000023.10:g.107834453T>G	ARUP_COL4A5:NM_000495.3:c.1331T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1340-2A>G	1287	COL4A5	Pathogenic	104886319	RCV000021278;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834789	107834789	NM_000495.4:c.1340-2A>G		NC_000023.10:g.107834789A>G	ARUP_COL4A5:NM_000495.3:c.1340-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1350_1351delAT (p.Ile450Metfs)	1287	COL4A5	Pathogenic	104886320	RCV000021279;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834801	107834802	NM_000495.4:c.1350_1351delAT	NP_000486.1:p.Ile450Metfs	NC_000023.10:g.107834801_107834802delAT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1371_1379delCCCCCCAGG (p.Pro458_Gly460del)	1287	COL4A5	Pathogenic	104886321	RCV000021282;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834822	107834830	NM_000495.4:c.1371_1379delCCCCCCAGG	NP_000486.1:p.Pro458_Gly460del	NC_000023.10:g.107834822_107834830delCCCCCCAGG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1376delC (p.Pro459Glnfs)	1287	COL4A5	Pathogenic	104886113	RCV000021283;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834827	107834827	NM_000495.4:c.1376delC	NP_000486.1:p.Pro459Glnfs	NC_000023.10:g.107834827delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1376dupC (p.Gly460Argfs)	1287	COL4A5	Pathogenic	281874666	RCV000021284;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834827	107834827	NM_000495.4:c.1376dupC	NP_000486.1:p.Gly460Argfs	NC_000023.10:g.107834827dupC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1397G>A (p.Gly466Glu)	1287	COL4A5	Pathogenic	104886114	RCV000021285;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834848	107834848	NM_000495.4:c.1397G>A	NP_000486.1:p.Gly466Glu	NC_000023.10:g.107834848G>A	ARUP_COL4A5:NM_000495.3:c.1397G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1406G>A (p.Gly469Glu)	1287	COL4A5	Pathogenic	104886115	RCV000021286;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834857	107834857	NM_000495.4:c.1406G>A	NP_000486.1:p.Gly469Glu	NC_000023.10:g.107834857G>A	ARUP_COL4A5:NM_000495.3:c.1406G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1414G>A (p.Gly472Arg)	1287	COL4A5	Pathogenic	104886116	RCV000021287;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834865	107834865	NM_000495.4:c.1414G>A	NP_000486.1:p.Gly472Arg	NC_000023.10:g.107834865G>A	ARUP_COL4A5:NM_000495.3:c.1414G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1423G>A (p.Gly475Ser)	1287	COL4A5	Pathogenic	281874667	RCV000021288;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834874	107834874	NM_000495.4:c.1423G>A	NP_000486.1:p.Gly475Ser	NC_000023.10:g.107834874G>A	ARUP_COL4A5:NM_000495.3:c.1423G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1423+1G>A	1287	COL4A5	Pathogenic	104886312	RCV000021289;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107834875	107834875	NM_000495.4:c.1423+1G>A		NC_000023.10:g.107834875G>A	ARUP_COL4A5:NM_000495.3:c.1423+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1424-20T>A	1287	COL4A5	Pathogenic	281874668	RCV000021291;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107838719	107838719	NM_000495.4:c.1424-20T>A		NC_000023.10:g.107838719T>A	ARUP_COL4A5:NM_000495.3:c.1424-20T>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1424-1G>A	1287	COL4A5	Pathogenic	104886329	RCV000021292;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107838738	107838738	NM_000495.4:c.1424-1G>A		NC_000023.10:g.107838738G>A	ARUP_COL4A5:NM_000495.3:c.1424-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1472G>A (p.Gly491Glu)	1287	COL4A5	Pathogenic	104886117	RCV000021294;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107838787	107838787	NM_000495.4:c.1472G>A	NP_000486.1:p.Gly491Glu	NC_000023.10:g.107838787G>A	ARUP_COL4A5:NM_000495.3:c.1472G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1481G>A (p.Gly494Asp)	1287	COL4A5	Pathogenic	104886118	RCV000021295;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107838796	107838796	NM_000495.4:c.1481G>A	NP_000486.1:p.Gly494Asp	NC_000023.10:g.107838796G>A	ARUP_COL4A5:NM_000495.3:c.1481G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1489G>T (p.Gly497Cys)	1287	COL4A5	Pathogenic	104886120	RCV000021297;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107838804	107838804	NM_000495.4:c.1489G>T	NP_000486.1:p.Gly497Cys	NC_000023.10:g.107838804G>T	ARUP_COL4A5:NM_000495.3:c.1489G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1498G>C (p.Gly500Arg)	1287	COL4A5	Pathogenic	281874670	RCV000021298;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107838813	107838813	NM_000495.4:c.1498G>C	NP_000486.1:p.Gly500Arg	NC_000023.10:g.107838813G>C	ARUP_COL4A5:NM_000495.3:c.1498G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1516+1G>A	1287	COL4A5	Pathogenic	104886331	RCV000021299;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107838832	107838832	NM_000495.4:c.1516+1G>A		NC_000023.10:g.107838832G>A	ARUP_COL4A5:NM_000495.3:c.1516+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1517-1G>T	1287	COL4A5	Pathogenic	104886332	RCV000021300;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840227	107840227	NM_000495.4:c.1517-1G>T		NC_000023.10:g.107840227G>T	ARUP_COL4A5:NM_000495.3:c.1517-1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1542_1543delAG (p.Glu516Lysfs)	1287	COL4A5	Pathogenic	104886333	RCV000021084;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840253	107840254	NM_000495.4:c.1542_1543delAG	NP_000486.1:p.Glu516Lysfs	NC_000023.10:g.107840253_107840254delAG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1561G>T (p.Gly521Cys)	1287	COL4A5	Pathogenic	104886121	RCV000011208;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840272	107840272	NM_000495.4:c.1561G>T	NP_000486.1:p.Gly521Cys	NC_000023.10:g.107840272G>T	ARUP_COL4A5:NM_000495.3:c.1561G>T,OMIM Allelic Variant:303630.0010	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1562G>A (p.Gly521Asp)	1287	COL4A5	Pathogenic	104886122	RCV000021301;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840273	107840273	NM_000495.4:c.1562G>A	NP_000486.1:p.Gly521Asp	NC_000023.10:g.107840273G>A	ARUP_COL4A5:NM_000495.3:c.1562G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1566delA (p.Thr523Leufs)	1287	COL4A5	Pathogenic	104886123	RCV000021302;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840277	107840277	NM_000495.4:c.1566delA	NP_000486.1:p.Thr523Leufs	NC_000023.10:g.107840277delA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1571G>A (p.Gly524Asp)	1287	COL4A5	Pathogenic	104886119	RCV000021303;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840282	107840282	NM_000495.4:c.1571G>A	NP_000486.1:p.Gly524Asp	NC_000023.10:g.107840282G>A	ARUP_COL4A5:NM_000495.3:c.1571G>A	C1567742 301050 Alport syndrome, X-linked recessive
NC_000023.10:g.107840292_107840615del324	1287	COL4A5	Pathogenic	-1	RCV000021304;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840292	107840615	-	-		-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1587+1delG	1287	COL4A5	Pathogenic	104886124	RCV000021305;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840299	107840299	NM_000495.4:c.1587+1delG		NC_000023.10:g.107840299delG	ARUP_COL4A5:NM_000495.3:c.1587+1delG	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1587+1G>A	1287	COL4A5	Pathogenic	104886313	RCV000021306;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840299	107840299	NM_000495.4:c.1587+1G>A		NC_000023.10:g.107840299G>A	ARUP_COL4A5:NM_000495.3:c.1587+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1589G>A (p.Gly530Asp)	1287	COL4A5	Pathogenic	281874671	RCV000032058;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840608	107840608	NM_000495.4:c.1589G>A	NP_000486.1:p.Gly530Asp	NC_000023.10:g.107840608G>A	ARUP_COL4A5:NM_000495.3:c.1589G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1598G>A (p.Gly533Glu)	1287	COL4A5	Pathogenic	281874672	RCV000021307;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840617	107840617	NM_000495.4:c.1598G>A	NP_000486.1:p.Gly533Glu	NC_000023.10:g.107840617G>A	ARUP_COL4A5:NM_000495.3:c.1598G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1607G>A (p.Gly536Asp)	1287	COL4A5	Pathogenic	104886125	RCV000021308;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840626	107840626	NM_000495.4:c.1607G>A	NP_000486.1:p.Gly536Asp	NC_000023.10:g.107840626G>A	ARUP_COL4A5:NM_000495.3:c.1607G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1633G>C (p.Gly545Arg)	1287	COL4A5	Pathogenic	104886126	RCV000021309;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840652	107840652	NM_000495.4:c.1633G>C	NP_000486.1:p.Gly545Arg	NC_000023.10:g.107840652G>C	ARUP_COL4A5:NM_000495.3:c.1633G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1634G>T (p.Gly545Val)	1287	COL4A5	Pathogenic	104886127	RCV000021310;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840653	107840653	NM_000495.4:c.1634G>T	NP_000486.1:p.Gly545Val	NC_000023.10:g.107840653G>T	ARUP_COL4A5:NM_000495.3:c.1634G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1643G>A (p.Gly548Asp)	1287	COL4A5	Pathogenic	281874673	RCV000021311;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840662	107840662	NM_000495.4:c.1643G>A	NP_000486.1:p.Gly548Asp	NC_000023.10:g.107840662G>A	ARUP_COL4A5:NM_000495.3:c.1643G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1653delC (p.Thr552Leufs)	1287	COL4A5	Pathogenic	104886128	RCV000021312;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840672	107840672	NM_000495.4:c.1653delC	NP_000486.1:p.Thr552Leufs	NC_000023.10:g.107840672delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1672G>C (p.Gly558Arg)	1287	COL4A5	Pathogenic	104886129	RCV000021313;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840691	107840691	NM_000495.4:c.1672G>C	NP_000486.1:p.Gly558Arg	NC_000023.10:g.107840691G>C	ARUP_COL4A5:NM_000495.3:c.1672G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1681G>A (p.Gly561Arg)	1287	COL4A5	Pathogenic	104886136	RCV000021314;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840700	107840700	NM_000495.4:c.1681G>A	NP_000486.1:p.Gly561Arg	NC_000023.10:g.107840700G>A	ARUP_COL4A5:NM_000495.3:c.1681G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1690G>T (p.Gly564Cys)	1287	COL4A5	Pathogenic	281874674	RCV000021315;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840709	107840709	NM_000495.4:c.1690G>T	NP_000486.1:p.Gly564Cys	NC_000023.10:g.107840709G>T	ARUP_COL4A5:NM_000495.3:c.1690G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1700G>C (p.Gly567Ala)	1287	COL4A5	Pathogenic	104886137	RCV000021316;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840719	107840719	NM_000495.4:c.1700G>C	NP_000486.1:p.Gly567Ala	NC_000023.10:g.107840719G>C	ARUP_COL4A5:NM_000495.3:c.1700G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1718G>A (p.Gly573Asp)	1287	COL4A5	Pathogenic	104886138	RCV000021317;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840737	107840737	NM_000495.4:c.1718G>A	NP_000486.1:p.Gly573Asp	NC_000023.10:g.107840737G>A	ARUP_COL4A5:NM_000495.3:c.1718G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1726G>A (p.Gly576Ser)	1287	COL4A5	Pathogenic	281874675	RCV000021318;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840745	107840745	NM_000495.4:c.1726G>A	NP_000486.1:p.Gly576Ser	NC_000023.10:g.107840745G>A	ARUP_COL4A5:NM_000495.3:c.1726G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1735G>A (p.Gly579Arg)	1287	COL4A5	Pathogenic	104886139	RCV000021319;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840754	107840754	NM_000495.4:c.1735G>A	NP_000486.1:p.Gly579Arg	NC_000023.10:g.107840754G>A	ARUP_COL4A5:NM_000495.3:c.1735G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1736G>A (p.Gly579Glu)	1287	COL4A5	Pathogenic	104886130	RCV000021320;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840755	107840755	NM_000495.4:c.1736G>A	NP_000486.1:p.Gly579Glu	NC_000023.10:g.107840755G>A	ARUP_COL4A5:NM_000495.3:c.1736G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1738C>T (p.Gln580Ter)	1287	COL4A5	Pathogenic	281874676	RCV000021321;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840757	107840757	NM_000495.4:c.1738C>T	NP_000486.1:p.Gln580Ter	NC_000023.10:g.107840757C>T	ARUP_COL4A5:NM_000495.3:c.1738C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1739_1948+98del	1287	COL4A5	Pathogenic	104886336	RCV000021322;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840758	107842198	NM_000495.4:c.1739_1948+98del			-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1744G>A (p.Gly582Arg)	1287	COL4A5	Pathogenic	281874677	RCV000032059;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840763	107840763	NM_000495.4:c.1744G>A	NP_000486.1:p.Gly582Arg	NC_000023.10:g.107840763G>A	ARUP_COL4A5:NM_000495.3:c.1744G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1757_1770delTTCCTGGCCCGAAA (p.Leu586Argfs)	1287	COL4A5	Pathogenic	281874678	RCV000021323;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840776	107840789	NM_000495.4:c.1757_1770delTTCCTGGCCCGAAA	NP_000486.1:p.Leu586Argfs	NC_000023.10:g.107840776_107840789delTTCCTGGCCCGAAA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1779+1G>T	1287	COL4A5	Pathogenic	104886337	RCV000021324;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840799	107840799	NM_000495.4:c.1779+1G>T		NC_000023.10:g.107840799G>T	ARUP_COL4A5:NM_000495.3:c.1779+1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1779+3G>C	1287	COL4A5	Pathogenic	281874679	RCV000021325;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107840801	107840801	NM_000495.4:c.1779+3G>C		NC_000023.10:g.107840801G>C	ARUP_COL4A5:NM_000495.3:c.1779+3G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1780-1G>A	1287	COL4A5	Pathogenic	104886338	RCV000021326;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107841931	107841931	NM_000495.4:c.1780-1G>A		NC_000023.10:g.107841931G>A	ARUP_COL4A5:NM_000495.3:c.1780-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.1780-1G>T	1287	COL4A5	Pathogenic	104886338	RCV000207547;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107841931	107841931	NM_033380.2:c.1780-1G>T			-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1780G>A (p.Gly594Ser)	1287	COL4A5	Pathogenic	104886131	RCV000021327;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107841932	107841932	NM_000495.4:c.1780G>A	NP_000486.1:p.Gly594Ser	NC_000023.10:g.107841932G>A	ARUP_COL4A5:NM_000495.3:c.1780G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1783G>A (p.Gly595Arg)	1287	COL4A5	Pathogenic	104886132	RCV000021328;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107841935	107841935	NM_000495.4:c.1783G>A	NP_000486.1:p.Gly595Arg	NC_000023.10:g.107841935G>A	ARUP_COL4A5:NM_000495.3:c.1783G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1808G>T (p.Gly603Val)	1287	COL4A5	Pathogenic	104886133	RCV000021329;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107841960	107841960	NM_000495.4:c.1808G>T	NP_000486.1:p.Gly603Val	NC_000023.10:g.107841960G>T	ARUP_COL4A5:NM_000495.3:c.1808G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1825G>C (p.Gly609Arg)	1287	COL4A5	Pathogenic	104886135	RCV000021330;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107841977	107841977	NM_000495.4:c.1825G>C	NP_000486.1:p.Gly609Arg	NC_000023.10:g.107841977G>C	ARUP_COL4A5:NM_000495.3:c.1825G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1826G>T (p.Gly609Val)	1287	COL4A5	Pathogenic	104886140	RCV000021331;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107841978	107841978	NM_000495.4:c.1826G>T	NP_000486.1:p.Gly609Val	NC_000023.10:g.107841978G>T	ARUP_COL4A5:NM_000495.3:c.1826G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1835G>A (p.Gly612Asp)	1287	COL4A5	Pathogenic	281874680	RCV000032060;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107841987	107841987	NM_000495.4:c.1835G>A	NP_000486.1:p.Gly612Asp	NC_000023.10:g.107841987G>A	ARUP_COL4A5:NM_000495.3:c.1835G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1844G>A (p.Gly615Glu)	1287	COL4A5	Pathogenic	794727397	RCV000176533;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107841996	107841996	NM_000495.4:c.1844G>A	NP_000486.1:p.Gly615Glu	NC_000023.10:g.107841996G>A	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1856C>T (p.Pro619Leu)	1287	COL4A5	Pathogenic	281874681	RCV000021332;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842008	107842008	NM_000495.4:c.1856C>T	NP_000486.1:p.Pro619Leu	NC_000023.10:g.107842008C>T	ARUP_COL4A5:NM_000495.3:c.1856C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1861G>T (p.Gly621Cys)	1287	COL4A5	Pathogenic	104886141	RCV000021333;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842013	107842013	NM_000495.4:c.1861G>T	NP_000486.1:p.Gly621Cys	NC_000023.10:g.107842013G>T	ARUP_COL4A5:NM_000495.3:c.1861G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1871G>A (p.Gly624Asp)	1287	COL4A5	Pathogenic	104886142	RCV000021334;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842023	107842023	NM_000495.4:c.1871G>A	NP_000486.1:p.Gly624Asp	NC_000023.10:g.107842023G>A	ARUP_COL4A5:NM_000495.3:c.1871G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1877G>C (p.Gly626Ala)	1287	COL4A5	Pathogenic	104886143	RCV000021335;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842029	107842029	NM_000495.4:c.1877G>C	NP_000486.1:p.Gly626Ala	NC_000023.10:g.107842029G>C	ARUP_COL4A5:NM_000495.3:c.1877G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1883C>T (p.Pro628Leu)	1287	COL4A5	Pathogenic	281874682	RCV000032061;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842035	107842035	NM_000495.4:c.1883C>T	NP_000486.1:p.Pro628Leu	NC_000023.10:g.107842035C>T	ARUP_COL4A5:NM_000495.3:c.1883C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1886G>A (p.Gly629Asp)	1287	COL4A5	Pathogenic	104886144	RCV000021336;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842038	107842038	NM_000495.4:c.1886G>A	NP_000486.1:p.Gly629Asp	NC_000023.10:g.107842038G>A	ARUP_COL4A5:NM_000495.3:c.1886G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1895G>A (p.Gly632Asp)	1287	COL4A5	Pathogenic	104886145	RCV000021337;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842047	107842047	NM_000495.4:c.1895G>A	NP_000486.1:p.Gly632Asp	NC_000023.10:g.107842047G>A	ARUP_COL4A5:NM_000495.3:c.1895G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1897G>A (p.Glu633Lys)	1287	COL4A5	Pathogenic	104886146	RCV000021338;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842049	107842049	NM_000495.4:c.1897G>A	NP_000486.1:p.Glu633Lys	NC_000023.10:g.107842049G>A	ARUP_COL4A5:NM_000495.3:c.1897G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1904G>A (p.Gly635Asp)	1287	COL4A5	Pathogenic	281874683	RCV000021339;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842056	107842056	NM_000495.4:c.1904G>A	NP_000486.1:p.Gly635Asp	NC_000023.10:g.107842056G>A	ARUP_COL4A5:NM_000495.3:c.1904G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1912G>A (p.Gly638Ser)	1287	COL4A5	Pathogenic	104886147	RCV000021340;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842064	107842064	NM_000495.4:c.1912G>A	NP_000486.1:p.Gly638Ser	NC_000023.10:g.107842064G>A	ARUP_COL4A5:NM_000495.3:c.1912G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1913G>C (p.Gly638Ala)	1287	COL4A5	Pathogenic	104886134	RCV000021341;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842065	107842065	NM_000495.4:c.1913G>C	NP_000486.1:p.Gly638Ala	NC_000023.10:g.107842065G>C,NC_000023.10:g.107842065G>T	ARUP_COL4A5:NM_000495.3:c.1913G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1913G>T (p.Gly638Val)	1287	COL4A5	Pathogenic	104886134	RCV000021342;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842065	107842065	NM_000495.4:c.1913G>T	NP_000486.1:p.Gly638Val	NC_000023.10:g.107842065G>C,NC_000023.10:g.107842065G>T	ARUP_COL4A5:NM_000495.3:c.1913G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1948+1G>A	1287	COL4A5	Pathogenic	104886339	RCV000021343;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842101	107842101	NM_000495.4:c.1948+1G>A		NC_000023.10:g.107842101G>A	ARUP_COL4A5:NM_000495.3:c.1948+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1949-?_3373+?del	1287	COL4A5	Pathogenic	-1	RCV000021345;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107842101	107908736	NM_000495.4:c.1949-?_3373+?del			dbVar:nssv7487020,dbVar:nsv1197492	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1957G>A (p.Gly653Arg)	1287	COL4A5	Pathogenic	104886150	RCV000021346;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844631	107844631	NM_000495.4:c.1957G>A	NP_000486.1:p.Gly653Arg	NC_000023.10:g.107844631G>A	ARUP_COL4A5:NM_000495.3:c.1957G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1960delG (p.Asp654Ilefs)	1287	COL4A5	Pathogenic	104886152	RCV000021347;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844634	107844634	NM_000495.4:c.1960delG	NP_000486.1:p.Asp654Ilefs	NC_000023.10:g.107844634delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1992G>T (p.Lys664Asn)	1287	COL4A5	Benign	34077552	RCV000021348;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844666	107844666	NM_000495.4:c.1992G>T	NP_000486.1:p.Lys664Asn	NC_000023.10:g.107844666G>T	ARUP_COL4A5:NM_000495.3:c.1992G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.1997G>A (p.Gly666Asp)	1287	COL4A5	Pathogenic	104886153	RCV000021349;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844671	107844671	NM_000495.4:c.1997G>A	NP_000486.1:p.Gly666Asp	NC_000023.10:g.107844671G>A	ARUP_COL4A5:NM_000495.3:c.1997G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2005G>C (p.Gly669Arg)	1287	COL4A5	Pathogenic	281874684	RCV000021350;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844679	107844679	NM_000495.4:c.2005G>C	NP_000486.1:p.Gly669Arg	NC_000023.10:g.107844679G>C	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2006G>C (p.Gly669Ala)	1287	COL4A5	Pathogenic	104886151	RCV000021351;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844680	107844680	NM_000495.4:c.2006G>C	NP_000486.1:p.Gly669Ala	NC_000023.10:g.107844680G>C	ARUP_COL4A5:NM_000495.3:c.2006G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2014G>C (p.Gly672Arg)	1287	COL4A5	Pathogenic	281874685	RCV000032063;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844688	107844688	NM_000495.4:c.2014G>C	NP_000486.1:p.Gly672Arg	NC_000023.10:g.107844688G>C	ARUP_COL4A5:NM_000495.3:c.2014G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2018delG (p.Arg673Lysfs)	1287	COL4A5	Pathogenic	104886156	RCV000021352;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844692	107844692	NM_000495.4:c.2018delG	NP_000486.1:p.Arg673Lysfs	NC_000023.10:g.107844692delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2023G>A (p.Gly675Ser)	1287	COL4A5	Pathogenic	104886157	RCV000021353;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844697	107844697	NM_000495.4:c.2023G>A	NP_000486.1:p.Gly675Ser	NC_000023.10:g.107844697G>A	ARUP_COL4A5:NM_000495.3:c.2023G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2041+1G>T	1287	COL4A5	Pathogenic	104886340	RCV000021354;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107844716	107844716	NM_000495.4:c.2041+1G>T		NC_000023.10:g.107844716G>T	ARUP_COL4A5:NM_000495.3:c.2041+1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2042-18A>G	1287	COL4A5	Pathogenic	104886341	RCV000021356;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845097	107845097	NM_000495.4:c.2042-18A>G		NC_000023.10:g.107845097A>G	ARUP_COL4A5:NM_000495.3:c.2042-18A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2042G>A (p.Gly681Asp)	1287	COL4A5	Pathogenic	104886158	RCV000021357;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845115	107845115	NM_000495.4:c.2042G>A	NP_000486.1:p.Gly681Asp	NC_000023.10:g.107845115G>A	ARUP_COL4A5:NM_000495.3:c.2042G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2050G>T (p.Gly684Ter)	1287	COL4A5	Pathogenic	104886159	RCV000021358;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845123	107845123	NM_000495.4:c.2050G>T	NP_000486.1:p.Gly684Ter	NC_000023.10:g.107845123G>T	ARUP_COL4A5:NM_000495.3:c.2050G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2051G>T (p.Gly684Val)	1287	COL4A5	Pathogenic	104886160	RCV000021359;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845124	107845124	NM_000495.4:c.2051G>T	NP_000486.1:p.Gly684Val	NC_000023.10:g.107845124G>T	ARUP_COL4A5:NM_000495.3:c.2051G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2055T>C (p.Leu685=)	1287	COL4A5	Benign	7884085	RCV000021360;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845128	107845128	NM_000495.4:c.2055T>C	NP_000486.1:p.Leu685=	NC_000023.10:g.107845128T>C	ARUP_COL4A5:NM_000495.3:c.2055T>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2057delC (p.Pro686Glnfs)	1287	COL4A5	Pathogenic	104886167	RCV000021361;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845130	107845130	NM_000495.4:c.2057delC	NP_000486.1:p.Pro686Glnfs	NC_000023.10:g.107845130delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2060G>A (p.Gly687Glu)	1287	COL4A5	Pathogenic	104886168	RCV000021362;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845133	107845133	NM_000495.4:c.2060G>A	NP_000486.1:p.Gly687Glu	NC_000023.10:g.107845133G>A	ARUP_COL4A5:NM_000495.3:c.2060G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2062_2114dup53 (p.Ile706Asnfs)	1287	COL4A5	Pathogenic	104886342	RCV000021363;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845135	107845187	NM_000495.4:c.2062_2114dup53	NP_000486.1:p.Ile706Asnfs	NC_000023.10:g.107845135_107845187dup53	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2098G>T (p.Glu700Ter)	1287	COL4A5	Pathogenic	104886169	RCV000021364;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845171	107845171	NM_000495.4:c.2098G>T	NP_000486.1:p.Glu700Ter	NC_000023.10:g.107845171G>T	ARUP_COL4A5:NM_000495.3:c.2098G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2107A>G (p.Ile703Val)	1287	COL4A5	Benign	104886155	RCV000021365;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845180	107845180	NM_000495.4:c.2107A>G	NP_000486.1:p.Ile703Val	NC_000023.10:g.107845180A>G	ARUP_COL4A5:NM_000495.3:c.2107A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2146G>C (p.Gly716Arg)	1287	COL4A5	Pathogenic	104886161	RCV000021366;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845219	107845219	NM_000495.4:c.2146G>C	NP_000486.1:p.Gly716Arg	NC_000023.10:g.107845219G>C	ARUP_COL4A5:NM_000495.3:c.2146G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2147-?_2767+?dup621	1287	COL4A5	Pathogenic	-1	RCV000021371;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845220	107865905	NM_000495.4:c.2147-?_2767+?dup621			dbVar:nssv7487021,dbVar:nsv1197371	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2146+3A>C	1287	COL4A5	Pathogenic	104886343	RCV000021367;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107845222	107845222	NM_000495.4:c.2146+3A>C		NC_000023.10:g.107845222A>C	ARUP_COL4A5:NM_000495.3:c.2146+3A>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2147-3C>G	1287	COL4A5	Pathogenic	104886345	RCV000021368;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846191	107846191	NM_000495.4:c.2147-3C>G		NC_000023.10:g.107846191C>G	ARUP_COL4A5:NM_000495.3:c.2147-3C>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2147-2A>G	1287	COL4A5	Pathogenic	104886344	RCV000021369;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846192	107846192	NM_000495.4:c.2147-2A>G		NC_000023.10:g.107846192A>G	ARUP_COL4A5:NM_000495.3:c.2147-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2147delG (p.Gly716Alafs)	1287	COL4A5	Pathogenic	104886162	RCV000021370;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846194	107846194	NM_000495.4:c.2147delG	NP_000486.1:p.Gly716Alafs	NC_000023.10:g.107846194delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2155G>C (p.Gly719Arg)	1287	COL4A5	Pathogenic	281874686	RCV000021372;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846202	107846202	NM_000495.4:c.2155G>C	NP_000486.1:p.Gly719Arg	NC_000023.10:g.107846202G>C	ARUP_COL4A5:NM_000495.3:c.2155G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2164G>C (p.Gly722Arg)	1287	COL4A5	Pathogenic	281874687	RCV000032064;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846211	107846211	NM_000495.4:c.2164G>C	NP_000486.1:p.Gly722Arg	NC_000023.10:g.107846211G>C	ARUP_COL4A5:NM_000495.3:c.2164G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2165G>A (p.Gly722Glu)	1287	COL4A5	Pathogenic	104886163	RCV000021373;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846212	107846212	NM_000495.4:c.2165G>A	NP_000486.1:p.Gly722Glu	NC_000023.10:g.107846212G>A	ARUP_COL4A5:NM_000495.3:c.2165G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2206_2226del21 (p.Glu736_Pro742del)	1287	COL4A5	Pathogenic	104886346	RCV000021374;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846253	107846273	NM_000495.4:c.2206_2226del21	NP_000486.1:p.Glu736_Pro742del	NC_000023.10:g.107846253_107846273del21	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2215C>T (p.Pro739Ser)	1287	COL4A5	Pathogenic	104886164	RCV000021375;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846262	107846262	NM_000495.4:c.2215C>T	NP_000486.1:p.Pro739Ser	NC_000023.10:g.107846262C>T	ARUP_COL4A5:NM_000495.3:c.2215C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2219G>A (p.Gly740Glu)	1287	COL4A5	Pathogenic	104886165	RCV000021376;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846266	107846266	NM_000495.4:c.2219G>A	NP_000486.1:p.Gly740Glu	NC_000023.10:g.107846266G>A	ARUP_COL4A5:NM_000495.3:c.2219G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2228G>A (p.Gly743Asp)	1287	COL4A5	Pathogenic	104886166	RCV000021377;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846275	107846275	NM_000495.4:c.2228G>A	NP_000486.1:p.Gly743Asp	NC_000023.10:g.107846275G>A	ARUP_COL4A5:NM_000495.3:c.2228G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2244+1G>T	1287	COL4A5	Pathogenic	281874688	RCV000021378;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846292	107846292	NM_000495.4:c.2244+1G>T		NC_000023.10:g.107846292G>T	ARUP_COL4A5:NM_000495.3:c.2244+1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2244+2T>G	1287	COL4A5	Pathogenic	104886347	RCV000021379;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107846293	107846293	NM_000495.4:c.2244+2T>G		NC_000023.10:g.107846293T>G	ARUP_COL4A5:NM_000495.3:c.2244+2T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2245-1G>A	1287	COL4A5	Pathogenic	104886348	RCV000021380;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107849971	107849971	NM_000495.4:c.2245-1G>A		NC_000023.10:g.107849971G>A	ARUP_COL4A5:NM_000495.3:c.2245-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2287G>A (p.Gly763Arg)	1287	COL4A5	Pathogenic	104886171	RCV000021381;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850014	107850014	NM_000495.4:c.2287G>A	NP_000486.1:p.Gly763Arg	NC_000023.10:g.107850014G>A	ARUP_COL4A5:NM_000495.3:c.2287G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2288G>A (p.Gly763Glu)	1287	COL4A5	Pathogenic	281874689	RCV000021382;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850015	107850015	NM_000495.4:c.2288G>A	NP_000486.1:p.Gly763Glu	NC_000023.10:g.107850015G>A	ARUP_COL4A5:NM_000495.3:c.2288G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2297G>A (p.Gly766Asp)	1287	COL4A5	Pathogenic	104886172	RCV000021383;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850024	107850024	NM_000495.4:c.2297G>A	NP_000486.1:p.Gly766Asp	NC_000023.10:g.107850024G>A	ARUP_COL4A5:NM_000495.3:c.2297G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2305G>A (p.Gly769Arg)	1287	COL4A5	Pathogenic	281874690	RCV000021384;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850032	107850032	NM_000495.4:c.2305G>A	NP_000486.1:p.Gly769Arg	NC_000023.10:g.107850032G>A	ARUP_COL4A5:NM_000495.3:c.2305G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2315G>A (p.Gly772Asp)	1287	COL4A5	Pathogenic	104886173	RCV000021385;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850042	107850042	NM_000495.4:c.2315G>A	NP_000486.1:p.Gly772Asp	NC_000023.10:g.107850042G>A,NC_000023.10:g.107850042G>C	ARUP_COL4A5:NM_000495.3:c.2315G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2315G>C (p.Gly772Ala)	1287	COL4A5	Pathogenic	104886173	RCV000021386;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850042	107850042	NM_000495.4:c.2315G>C	NP_000486.1:p.Gly772Ala	NC_000023.10:g.107850042G>A,NC_000023.10:g.107850042G>C	ARUP_COL4A5:NM_000495.3:c.2315G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2322dupA (p.Gly775Argfs)	1287	COL4A5	Pathogenic	104886351	RCV000021387;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850049	107850049	NM_000495.4:c.2322dupA	NP_000486.1:p.Gly775Argfs	NC_000023.10:g.107850049dupA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2332G>A (p.Gly778Ser)	1287	COL4A5	Pathogenic	104886174	RCV000021388;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850059	107850059	NM_000495.4:c.2332G>A	NP_000486.1:p.Gly778Ser	NC_000023.10:g.107850059G>A	ARUP_COL4A5:NM_000495.3:c.2332G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2348delC (p.Pro783Argfs)	1287	COL4A5	Pathogenic	104886175	RCV000021389;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850075	107850075	NM_000495.4:c.2348delC	NP_000486.1:p.Pro783Argfs	NC_000023.10:g.107850075delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2349G>A (p.Pro783=)	1287	COL4A5	Benign	3747408	RCV000021390;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850076	107850076	NM_000495.4:c.2349G>A	NP_000486.1:p.Pro783=	NC_000023.10:g.107850076G>A	ARUP_COL4A5:NM_000495.3:c.2349G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2360G>T (p.Gly787Val)	1287	COL4A5	Pathogenic	104886176	RCV000021391;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850087	107850087	NM_000495.4:c.2360G>T	NP_000486.1:p.Gly787Val	NC_000023.10:g.107850087G>T	ARUP_COL4A5:NM_000495.3:c.2360G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2386G>A (p.Gly796Arg)	1287	COL4A5	Pathogenic	104886177	RCV000021392;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850113	107850113	NM_000495.4:c.2386G>A	NP_000486.1:p.Gly796Arg	NC_000023.10:g.107850113G>A	ARUP_COL4A5:NM_000495.3:c.2386G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2394A>G (p.Lys798=)	1287	COL4A5	Pathogenic	281874691	RCV000021393;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850121	107850121	NM_000495.4:c.2394A>G	NP_000486.1:p.Lys798=	NC_000023.10:g.107850121A>G	ARUP_COL4A5:NM_000495.3:c.2394A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.2395+1G>A	1287	COL4A5	Pathogenic	869025331	RCV000207617;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850123	107850123	NM_033380.2:c.2395+1G>A		NC_000023.10:g.107850123G>A	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2395+2delT	1287	COL4A5	Pathogenic	104886178	RCV000021394;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107850124	107850124	NM_000495.4:c.2395+2delT		NC_000023.10:g.107850124delT	ARUP_COL4A5:NM_000495.3:c.2395+2delT	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2404G>A (p.Gly802Arg)	1287	COL4A5	Pathogenic	104886179	RCV000021397;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858149	107858149	NM_000495.4:c.2404G>A	NP_000486.1:p.Gly802Arg	NC_000023.10:g.107858149G>A	ARUP_COL4A5:NM_000495.3:c.2404G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2423G>A (p.Gly808Glu)	1287	COL4A5	Pathogenic	104886180	RCV000021398;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858168	107858168	NM_000495.4:c.2423G>A	NP_000486.1:p.Gly808Glu	NC_000023.10:g.107858168G>A	ARUP_COL4A5:NM_000495.3:c.2423G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2431G>A (p.Gly811Arg)	1287	COL4A5	Pathogenic	104886182	RCV000021399;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858176	107858176	NM_000495.4:c.2431G>A	NP_000486.1:p.Gly811Arg	NC_000023.10:g.107858176G>A	ARUP_COL4A5:NM_000495.3:c.2431G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2432G>T (p.Gly811Val)	1287	COL4A5	Pathogenic	104886183	RCV000021400;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858177	107858177	NM_000495.4:c.2432G>T	NP_000486.1:p.Gly811Val	NC_000023.10:g.107858177G>T	ARUP_COL4A5:NM_000495.3:c.2432G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2434_2441delCCTCCTGGinsAACCTGGACCAATGGGACCAATGGGAACAC (p.Pro812Asnfs)	1287	COL4A5	Pathogenic	397515495	RCV000032065;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858179	107858186	NM_000495.4:c.2434_2441delCCTCCTGGinsAACCTGGACCAATGGGACCAATGGGAACAC	NP_000486.1:p.Pro812Asnfs	NC_000023.10:g.107858179_107858186delCCTCCTGGinsAACCTGGACCAATGGGACCAATGGGAACAC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2464G>C (p.Gly822Arg)	1287	COL4A5	Pathogenic	104886184	RCV000021404;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858209	107858209	NM_000495.4:c.2464G>C	NP_000486.1:p.Gly822Arg	NC_000023.10:g.107858209G>C	ARUP_COL4A5:NM_000495.3:c.2464G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2473G>T (p.Gly825Ter)	1287	COL4A5	Pathogenic	281874692	RCV000021405;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858218	107858218	NM_000495.4:c.2473G>T	NP_000486.1:p.Gly825Ter	NC_000023.10:g.107858218G>T	ARUP_COL4A5:NM_000495.3:c.2473G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2475_2483delACCACCAGG (p.Pro826_Gly828del)	1287	COL4A5	Pathogenic	104886356	RCV000021406;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858220	107858228	NM_000495.4:c.2475_2483delACCACCAGG	NP_000486.1:p.Pro826_Gly828del	NC_000023.10:g.107858220_107858228delACCACCAGG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2476delC (p.Pro826Hisfs)	1287	COL4A5	Pathogenic	281874694	RCV000021407;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858221	107858221	NM_000495.4:c.2476delC	NP_000486.1:p.Pro826Hisfs	NC_000023.10:g.107858221delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2483G>A (p.Gly828Glu)	1287	COL4A5	Pathogenic	281874695	RCV000032066;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858228	107858228	NM_000495.4:c.2483G>A	NP_000486.1:p.Gly828Glu	NC_000023.10:g.107858228G>A	ARUP_COL4A5:NM_000495.3:c.2483G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2500G>C (p.Gly834Arg)	1287	COL4A5	Pathogenic	281874696	RCV000021408;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858245	107858245	NM_000495.4:c.2500G>C	NP_000486.1:p.Gly834Arg	NC_000023.10:g.107858245G>C	ARUP_COL4A5:NM_000495.3:c.2500G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2509G>A	1287	COL4A5	Pathogenic	104886185	RCV000021409;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107858254	107858254	NM_000495.4:c.2509G>A		NC_000023.10:g.107858254G>A	ARUP_COL4A5:NM_000495.3:c.2509G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2510-33A>G	1287	COL4A5	Pathogenic	104886358	RCV000021410;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863456	107863456	NM_000495.4:c.2510-33A>G		NC_000023.10:g.107863456A>G	ARUP_COL4A5:NM_000495.3:c.2510-33A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2510delG (p.Gly837Valfs)	1287	COL4A5	Pathogenic	104886181	RCV000021411;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863489	107863489	NM_000495.4:c.2510delG	NP_000486.1:p.Gly837Valfs	NC_000023.10:g.107863489delG	-	C1567742 301050 Alport syndrome, X-linked recessive
COL4A5:c.2510-?_2677+?del (p.Gly837_Gly893delinsGly)	1287	COL4A5	Pathogenic	-1	RCV000021413;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863489	107863656	NM_000495.4:c.(?_2510)_(2677_?)del	NP_000486.1:p.(?)		dbVar:nssv7487022,dbVar:nsv1197372	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2550_2573del24 (p.Leu853_Gly860del)	1287	COL4A5	Pathogenic	104886359	RCV000021414;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863529	107863552	NM_000495.4:c.2550_2573del24	NP_000486.1:p.Leu853_Gly860del	NC_000023.10:g.107863529_107863552del24	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2554G>A (p.Gly852Arg)	1287	COL4A5	Pathogenic	104886186	RCV000021415;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863533	107863533	NM_000495.4:c.2554G>A	NP_000486.1:p.Gly852Arg	NC_000023.10:g.107863533G>A	ARUP_COL4A5:NM_000495.3:c.2554G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2555G>A (p.Gly852Glu)	1287	COL4A5	Pathogenic	104886187	RCV000021416;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863534	107863534	NM_000495.4:c.2555G>A	NP_000486.1:p.Gly852Glu	NC_000023.10:g.107863534G>A	ARUP_COL4A5:NM_000495.3:c.2555G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2578G>C (p.Gly860Arg)	1287	COL4A5	Pathogenic	281874697	RCV000021417;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863557	107863557	NM_000495.4:c.2578G>C	NP_000486.1:p.Gly860Arg	NC_000023.10:g.107863557G>C	ARUP_COL4A5:NM_000495.3:c.2578G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2587_2606del20ins75 (p.?)	1287	COL4A5	Pathogenic	-1	RCV000032068;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863566	107863585	NM_000495.4:c.2587_2606del20ins75	NP_000486.1:p.?		-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2595_2612del18 (p.Ile867_Gly872del)	1287	COL4A5	Pathogenic	104886355	RCV000021419;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863574	107863591	NM_000495.4:c.2595_2612del18	NP_000486.1:p.Ile867_Gly872del	NC_000023.10:g.107863574_107863591del18	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2597G>A (p.Gly866Glu)	1287	COL4A5	Pathogenic	104886188	RCV000021420;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863576	107863576	NM_000495.4:c.2597G>A	NP_000486.1:p.Gly866Glu	NC_000023.10:g.107863576G>A	ARUP_COL4A5:NM_000495.3:c.2597G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2605G>A (p.Gly869Arg)	1287	COL4A5	Pathogenic	104886189	RCV000021422;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863584	107863584	NM_000495.4:c.2605G>A	NP_000486.1:p.Gly869Arg	NC_000023.10:g.107863584G>A	ARUP_COL4A5:NM_000495.3:c.2605G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2614G>C (p.Gly872Arg)	1287	COL4A5	Pathogenic	104886190	RCV000021423;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863593	107863593	NM_000495.4:c.2614G>C	NP_000486.1:p.Gly872Arg	NC_000023.10:g.107863593G>C	ARUP_COL4A5:NM_000495.3:c.2614G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2623G>C (p.Gly875Arg)	1287	COL4A5	Pathogenic	281874698	RCV000032069;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863602	107863602	NM_000495.4:c.2623G>C	NP_000486.1:p.Gly875Arg	NC_000023.10:g.107863602G>C	ARUP_COL4A5:NM_000495.3:c.2623G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2624G>A (p.Gly875Glu)	1287	COL4A5	Pathogenic	104886191	RCV000021424;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863603	107863603	NM_000495.4:c.2624G>A	NP_000486.1:p.Gly875Glu	NC_000023.10:g.107863603G>A	ARUP_COL4A5:NM_000495.3:c.2624G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2625delA (p.Pro876Leufs)	1287	COL4A5	Pathogenic	104886198	RCV000021425;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863604	107863604	NM_000495.4:c.2625delA	NP_000486.1:p.Pro876Leufs	NC_000023.10:g.107863604delA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2633G>T (p.Gly878Val)	1287	COL4A5	Pathogenic	104886199	RCV000021426;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863612	107863612	NM_000495.4:c.2633G>T	NP_000486.1:p.Gly878Val	NC_000023.10:g.107863612G>T	ARUP_COL4A5:NM_000495.3:c.2633G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2643delG (p.Leu882Phefs)	1287	COL4A5	Pathogenic	104886200	RCV000021421;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863622	107863622	NM_000495.4:c.2643delG	NP_000486.1:p.Leu882Phefs	NC_000023.10:g.107863622delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2659G>C (p.Gly887Arg)	1287	COL4A5	Pathogenic	281874699	RCV000021427;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863638	107863638	NM_000495.4:c.2659G>C	NP_000486.1:p.Gly887Arg	NC_000023.10:g.107863638G>C	ARUP_COL4A5:NM_000495.3:c.2659G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2660G>T (p.Gly887Val)	1287	COL4A5	Pathogenic	104886201	RCV000021428;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107863639	107863639	NM_000495.4:c.2660G>T	NP_000486.1:p.Gly887Val	NC_000023.10:g.107863639G>T	ARUP_COL4A5:NM_000495.3:c.2660G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2678-10T>G	1287	COL4A5	Pathogenic	104886360	RCV000021429;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865023	107865023	NM_000495.4:c.2678-10T>G		NC_000023.10:g.107865023T>G	ARUP_COL4A5:NM_000495.3:c.2678-10T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2678G>T (p.Gly893Val)	1287	COL4A5	Pathogenic	397515496	RCV000032070;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865033	107865033	NM_000495.4:c.2678G>T	NP_000486.1:p.Gly893Val	NC_000023.10:g.107865033G>T	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2686delG (p.Gly896Valfs)	1287	COL4A5	Pathogenic	281874700	RCV000021432;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865041	107865041	NM_000495.4:c.2686delG	NP_000486.1:p.Gly896Valfs	NC_000023.10:g.107865041delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2692A>G (p.Met898Val)	1287	COL4A5	Pathogenic	104886192	RCV000021433;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865047	107865047	NM_000495.4:c.2692A>G	NP_000486.1:p.Met898Val	NC_000023.10:g.107865047A>G	ARUP_COL4A5:NM_000495.3:c.2692A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2696_2705delGTATGATGGG (p.Gly899Aspfs)	1287	COL4A5	Pathogenic	281874701	RCV000032071;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865051	107865060	NM_000495.4:c.2696_2705delGTATGATGGG	NP_000486.1:p.Gly899Aspfs	NC_000023.10:g.107865051_107865060delGTATGATGGG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2696G>T (p.Gly899Val)	1287	COL4A5	Pathogenic	281874702	RCV000032072;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865051	107865051	NM_000495.4:c.2696G>T	NP_000486.1:p.Gly899Val	NC_000023.10:g.107865051G>T	ARUP_COL4A5:NM_000495.3:c.2696G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2705G>A (p.Gly902Glu)	1287	COL4A5	Pathogenic	104886361	RCV000021434;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865060	107865060	NM_000495.4:c.2705G>A	NP_000486.1:p.Gly902Glu	NC_000023.10:g.107865060G>A	ARUP_COL4A5:NM_000495.3:c.2705G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2708dupC (p.Pro904Serfs)	1287	COL4A5	Pathogenic	104886362	RCV000021435;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865063	107865063	NM_000495.4:c.2708dupC	NP_000486.1:p.Pro904Serfs	NC_000023.10:g.107865063dupC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2722G>A (p.Gly908Arg)	1287	COL4A5	Pathogenic	281874703	RCV000021436;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865077	107865077	NM_000495.4:c.2722G>A	NP_000486.1:p.Gly908Arg	NC_000023.10:g.107865077G>A	ARUP_COL4A5:NM_000495.3:c.2722G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2731G>A (p.Gly911Arg)	1287	COL4A5	Pathogenic	281874704	RCV000021437;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865086	107865086	NM_000495.4:c.2731G>A	NP_000486.1:p.Gly911Arg	NC_000023.10:g.107865086G>A	ARUP_COL4A5:NM_000495.3:c.2731G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2732G>A (p.Gly911Glu)	1287	COL4A5	Pathogenic	104886363	RCV000021438;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865087	107865087	NM_000495.4:c.2732G>A	NP_000486.1:p.Gly911Glu	NC_000023.10:g.107865087G>A	ARUP_COL4A5:NM_000495.3:c.2732G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.2741G>A (p.Gly914Asp)	1287	COL4A5	Pathogenic	869025332	RCV000207888;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865096	107865096	NM_033380.2:c.2741G>A	NP_203699.1:p.Gly914Asp	NC_000023.10:g.107865096G>A	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2746A>G (p.Ser916Gly)	1287	COL4A5	Pathogenic	104886193	RCV000021440;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865101	107865101	NM_000495.4:c.2746A>G	NP_000486.1:p.Ser916Gly	NC_000023.10:g.107865101A>G	ARUP_COL4A5:NM_000495.3:c.2746A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2767+2delT	1287	COL4A5	Pathogenic	104886366	RCV000021441;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865124	107865124	NM_000495.4:c.2767+2delT		NC_000023.10:g.107865124delT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2768-11A>G	1287	COL4A5	Benign	1006269	RCV000021442;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865895	107865895	NM_000495.4:c.2768-11A>G		NC_000023.10:g.107865895A>G	ARUP_COL4A5:NM_000495.3:c.2768-11A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2782C>T (p.Gln928Ter)	1287	COL4A5	Pathogenic	281874705	RCV000021443;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865920	107865920	NM_000495.4:c.2782C>T	NP_000486.1:p.Gln928Ter	NC_000023.10:g.107865920C>T	ARUP_COL4A5:NM_000495.3:c.2782C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2788C>T (p.Gln930Ter)	1287	COL4A5	Pathogenic	104886194	RCV000021444;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865926	107865926	NM_000495.4:c.2788C>T	NP_000486.1:p.Gln930Ter	NC_000023.10:g.107865926C>T	ARUP_COL4A5:NM_000495.3:c.2788C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2802dupT (p.Gly935Trpfs)	1287	COL4A5	Pathogenic	104886368	RCV000021445;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865940	107865940	NM_000495.4:c.2802dupT	NP_000486.1:p.Gly935Trpfs	NC_000023.10:g.107865940dupT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2804G>A (p.Gly935Asp)	1287	COL4A5	Pathogenic	104886195	RCV000021446;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865942	107865942	NM_000495.4:c.2804G>A	NP_000486.1:p.Gly935Asp	NC_000023.10:g.107865942G>A	ARUP_COL4A5:NM_000495.3:c.2804G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2821G>T (p.Gly941Cys)	1287	COL4A5	Pathogenic	104886196	RCV000021447;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865959	107865959	NM_000495.4:c.2821G>T	NP_000486.1:p.Gly941Cys	NC_000023.10:g.107865959G>T	ARUP_COL4A5:NM_000495.3:c.2821G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2823_2825delTAG (p.Ser942del)	1287	COL4A5	Pathogenic	104886369	RCV000021448;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865961	107865963	NM_000495.4:c.2823_2825delTAG	NP_000486.1:p.Ser942del	NC_000023.10:g.107865961_107865963delTAG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2840G>A (p.Gly947Asp)	1287	COL4A5	Pathogenic	104886370	RCV000021449;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865978	107865978	NM_000495.4:c.2840G>A	NP_000486.1:p.Gly947Asp	NC_000023.10:g.107865978G>A	ARUP_COL4A5:NM_000495.3:c.2840G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2846delC (p.Pro949Glnfs)	1287	COL4A5	Pathogenic	104886197	RCV000021450;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865984	107865984	NM_000495.4:c.2846delC	NP_000486.1:p.Pro949Glnfs	NC_000023.10:g.107865984delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2858G>T (p.Gly953Val)	1287	COL4A5	Pathogenic	78972735	RCV000021452;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107865996	107865996	NM_000495.4:c.2858G>T	NP_000486.1:p.Gly953Val	NC_000023.10:g.107865996G>T	ARUP_COL4A5:NM_000495.3:c.2858G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2917+1G>C	1287	COL4A5	Pathogenic	104886371	RCV000021453;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107866056	107866056	NM_000495.4:c.2917+1G>C		NC_000023.10:g.107866056G>C,NC_000023.10:g.107866056G>T	ARUP_COL4A5:NM_000495.3:c.2917+1G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2917+1G>T	1287	COL4A5	Pathogenic	104886371	RCV000021454;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107866056	107866056	NM_000495.4:c.2917+1G>T		NC_000023.10:g.107866056G>C,NC_000023.10:g.107866056G>T	ARUP_COL4A5:NM_000495.3:c.2917+1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2918-1G>T	1287	COL4A5	Pathogenic	104886372	RCV000021455;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107867465	107867465	NM_000495.4:c.2918-1G>T		NC_000023.10:g.107867465G>T	ARUP_COL4A5:NM_000495.3:c.2918-1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2943delA (p.Gly982Valfs)	1287	COL4A5	Pathogenic	104886204	RCV000021458;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107867491	107867491	NM_000495.4:c.2943delA	NP_000486.1:p.Gly982Valfs	NC_000023.10:g.107867491delA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2947delT (p.Tyr983Ilefs)	1287	COL4A5	Pathogenic	281874708	RCV000032074;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107867495	107867495	NM_000495.4:c.2947delT	NP_000486.1:p.Tyr983Ilefs	NC_000023.10:g.107867495delT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2959_2976del18 (p.Asp989_Gly994del)	1287	COL4A5	Pathogenic	104886374	RCV000021459;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107867507	107867524	NM_000495.4:c.2959_2976del18	NP_000486.1:p.Asp989_Gly994del	NC_000023.10:g.107867507_107867524del18	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2965delG (p.Asp989Thrfs)	1287	COL4A5	Pathogenic	104886206	RCV000021460;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107867513	107867513	NM_000495.4:c.2965delG	NP_000486.1:p.Asp989Thrfs	NC_000023.10:g.107867513delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.2999G>T (p.Gly1000Val)	1287	COL4A5	Benign	281874709	RCV000021461;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107867547	107867547	NM_000495.4:c.2999G>T	NP_000486.1:p.Gly1000Val	NC_000023.10:g.107867547G>T	ARUP_COL4A5:NM_000495.3:c.2999G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3016+1G>T	1287	COL4A5	Pathogenic	104886377	RCV000021462;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107867565	107867565	NM_000495.4:c.3016+1G>T		NC_000023.10:g.107867565G>T	ARUP_COL4A5:NM_000495.3:c.3016+1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3017-1G>A	1287	COL4A5	Pathogenic	104886378	RCV000021463;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107868934	107868934	NM_000495.4:c.3017-1G>A		NC_000023.10:g.107868934G>A	ARUP_COL4A5:NM_000495.3:c.3017-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3017G>T (p.Gly1006Val)	1287	COL4A5	Pathogenic	104886202	RCV000021464;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107868935	107868935	NM_000495.4:c.3017G>T	NP_000486.1:p.Gly1006Val	NC_000023.10:g.107868935G>T	ARUP_COL4A5:NM_000495.3:c.3017G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3044G>T (p.Gly1015Val)	1287	COL4A5	Pathogenic	104886211	RCV000021466;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107868962	107868962	NM_000495.4:c.3044G>T	NP_000486.1:p.Gly1015Val	NC_000023.10:g.107868962G>T	ARUP_COL4A5:NM_000495.3:c.3044G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3046C>T (p.Gln1016Ter)	1287	COL4A5	Pathogenic	104886207	RCV000021467;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107868964	107868964	NM_000495.4:c.3046C>T	NP_000486.1:p.Gln1016Ter	NC_000023.10:g.107868964C>T	ARUP_COL4A5:NM_000495.3:c.3046C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3046delC (p.Gln1016Serfs)	1287	COL4A5	Pathogenic	281874710	RCV000032077;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107868964	107868964	NM_000495.4:c.3046delC	NP_000486.1:p.Gln1016Serfs	NC_000023.10:g.107868964delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3057delT (p.Ile1020Terfs)	1287	COL4A5	Pathogenic	104886208	RCV000021468;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107868975	107868975	NM_000495.4:c.3057delT	NP_000486.1:p.Ile1020Terfs	NC_000023.10:g.107868975delT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3080G>T (p.Gly1027Val)	1287	COL4A5	Pathogenic	104886209	RCV000021469;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107868998	107868998	NM_000495.4:c.3080G>T	NP_000486.1:p.Gly1027Val	NC_000023.10:g.107868998G>T	ARUP_COL4A5:NM_000495.3:c.3080G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3088G>A (p.Gly1030Ser)	1287	COL4A5	Pathogenic	104886210	RCV000021470;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869006	107869006	NM_000495.4:c.3088G>A	NP_000486.1:p.Gly1030Ser	NC_000023.10:g.107869006G>A	ARUP_COL4A5:NM_000495.3:c.3088G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3107-4A>G	1287	COL4A5	Pathogenic	397515497	RCV000032075;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869436	107869436	NM_000495.4:c.3107-4A>G		NC_000023.10:g.107869436A>G	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3107-2A>G	1287	COL4A5	Pathogenic	104886379	RCV000021472;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869438	107869438	NM_000495.4:c.3107-2A>G		NC_000023.10:g.107869438A>G	ARUP_COL4A5:NM_000495.3:c.3107-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3107G>T (p.Gly1036Val)	1287	COL4A5	Pathogenic	104886212	RCV000021473;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869440	107869440	NM_000495.4:c.3107G>T	NP_000486.1:p.Gly1036Val	NC_000023.10:g.107869440G>T	ARUP_COL4A5:NM_000495.3:c.3107G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3115G>A (p.Gly1039Ser)	1287	COL4A5	Pathogenic	104886214	RCV000021474;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869448	107869448	NM_000495.4:c.3115G>A	NP_000486.1:p.Gly1039Ser	NC_000023.10:g.107869448G>A	ARUP_COL4A5:NM_000495.3:c.3115G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3134G>A (p.Gly1045Glu)	1287	COL4A5	Pathogenic	104886215	RCV000021475;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869467	107869467	NM_000495.4:c.3134G>A	NP_000486.1:p.Gly1045Glu	NC_000023.10:g.107869467G>A	ARUP_COL4A5:NM_000495.3:c.3134G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3167delC (p.Pro1056Glnfs)	1287	COL4A5	Pathogenic	281874711	RCV000021476;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869500	107869500	NM_000495.4:c.3167delC	NP_000486.1:p.Pro1056Glnfs	NC_000023.10:g.107869500delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3169G>T (p.Gly1057Ter)	1287	COL4A5	Pathogenic	104886216	RCV000021477;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869502	107869502	NM_000495.4:c.3169G>T	NP_000486.1:p.Gly1057Ter	NC_000023.10:g.107869502G>T	ARUP_COL4A5:NM_000495.3:c.3169G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3178G>T (p.Gly1060Ter)	1287	COL4A5	Pathogenic	104886217	RCV000021478;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869511	107869511	NM_000495.4:c.3178G>T	NP_000486.1:p.Gly1060Ter	NC_000023.10:g.107869511G>T	ARUP_COL4A5:NM_000495.3:c.3178G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3181C>T (p.Gln1061Ter)	1287	COL4A5	Pathogenic	104886213	RCV000021479;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869514	107869514	NM_000495.4:c.3181C>T	NP_000486.1:p.Gln1061Ter	NC_000023.10:g.107869514C>T	ARUP_COL4A5:NM_000495.3:c.3181C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3188G>T (p.Gly1063Val)	1287	COL4A5	Pathogenic	104886218	RCV000021480;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869521	107869521	NM_000495.4:c.3188G>T	NP_000486.1:p.Gly1063Val	NC_000023.10:g.107869521G>T	ARUP_COL4A5:NM_000495.3:c.3188G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3196G>C (p.Gly1066Arg)	1287	COL4A5	Pathogenic	104886219	RCV000021481;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869529	107869529	NM_000495.4:c.3196G>C	NP_000486.1:p.Gly1066Arg	NC_000023.10:g.107869529G>A,NC_000023.10:g.107869529G>C	ARUP_COL4A5:NM_000495.3:c.3196G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3196G>A (p.Gly1066Ser)	1287	COL4A5	Pathogenic	104886219	RCV000021482;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869529	107869529	NM_000495.4:c.3196G>A	NP_000486.1:p.Gly1066Ser	NC_000023.10:g.107869529G>A,NC_000023.10:g.107869529G>C	ARUP_COL4A5:NM_000495.3:c.3196G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3197G>C (p.Gly1066Ala)	1287	COL4A5	Pathogenic	104886221	RCV000021483;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869530	107869530	NM_000495.4:c.3197G>C	NP_000486.1:p.Gly1066Ala	NC_000023.10:g.107869530G>C	ARUP_COL4A5:NM_000495.3:c.3197G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3206G>T (p.Gly1069Val)	1287	COL4A5	Pathogenic	281874712	RCV000021484;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869539	107869539	NM_000495.4:c.3206G>T	NP_000486.1:p.Gly1069Val	NC_000023.10:g.107869539G>T	ARUP_COL4A5:NM_000495.3:c.3206G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3212C>G (p.Ser1071Ter)	1287	COL4A5	Pathogenic	104886222	RCV000021485;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107869545	107869545	NM_000495.4:c.3212C>G	NP_000486.1:p.Ser1071Ter	NC_000023.10:g.107869545C>G	ARUP_COL4A5:NM_000495.3:c.3212C>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3247G>A (p.Gly1083Ser)	1287	COL4A5	Pathogenic	104886223	RCV000021486;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898561	107898561	NM_000495.4:c.3247G>A	NP_000486.1:p.Gly1083Ser	NC_000023.10:g.107898561G>A	ARUP_COL4A5:NM_000495.3:c.3247G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.3247-?_3373+?del (p.(?))	1287	COL4A5	Pathogenic	-1	RCV000021487;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898561	107898687	-	-		dbVar:nssv7487023,dbVar:nsv1197373	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.3247-?_3373+?del (p.(?))	1287	COL4A5	Pathogenic	-1	RCV000021490;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898561	107898687	-	-		dbVar:nssv7487024,dbVar:nsv1197374	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3255T>A (p.Pro1085=)	1287	COL4A5	Benign	104886230	RCV000021491;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898569	107898569	NM_000495.4:c.3255T>A	NP_000486.1:p.Pro1085=	NC_000023.10:g.107898569T>A	ARUP_COL4A5:NM_000495.3:c.3255T>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3256G>C (p.Gly1086Arg)	1287	COL4A5	Pathogenic	104886231	RCV000021492;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898570	107898570	NM_000495.4:c.3256G>C	NP_000486.1:p.Gly1086Arg	NC_000023.10:g.107898570G>C	ARUP_COL4A5:NM_000495.3:c.3256G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3257G>A (p.Gly1086Asp)	1287	COL4A5	Pathogenic	104886232	RCV000021493;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898571	107898571	NM_000495.4:c.3257G>A	NP_000486.1:p.Gly1086Asp	NC_000023.10:g.107898571G>A	ARUP_COL4A5:NM_000495.3:c.3257G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3289A>T (p.Lys1097Ter)	1287	COL4A5	Pathogenic	104886233	RCV000021494;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898603	107898603	NM_000495.4:c.3289A>T	NP_000486.1:p.Lys1097Ter	NC_000023.10:g.107898603A>T	ARUP_COL4A5:NM_000495.3:c.3289A>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3311G>T (p.Gly1104Val)	1287	COL4A5	Pathogenic	104886224	RCV000021495;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898625	107898625	NM_000495.4:c.3311G>T	NP_000486.1:p.Gly1104Val	NC_000023.10:g.107898625G>T	ARUP_COL4A5:NM_000495.3:c.3311G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3319G>A (p.Gly1107Arg)	1287	COL4A5	Pathogenic	104886225	RCV000021496;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898633	107898633	NM_000495.4:c.3319G>A	NP_000486.1:p.Gly1107Arg	NC_000023.10:g.107898633G>A	ARUP_COL4A5:NM_000495.3:c.3319G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3326_3327insT (p.Gly1110Argfs)	1287	COL4A5	Pathogenic	397515492	RCV000021497;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898640	107898641	NM_000495.4:c.3326_3327insT	NP_000486.1:p.Gly1110Argfs	NC_000023.10:g.107898640_107898641insT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3331delA (p.Thr1111Profs)	1287	COL4A5	Pathogenic	104886226	RCV000021498;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898645	107898645	NM_000495.4:c.3331delA	NP_000486.1:p.Thr1111Profs	NC_000023.10:g.107898645delA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3334_3337dupCCTG (p.Gly1113Alafs)	1287	COL4A5	Pathogenic	104886380	RCV000021499;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898648	107898651	NM_000495.4:c.3334_3337dupCCTG	NP_000486.1:p.Gly1113Alafs	NC_000023.10:g.107898648_107898651dupCCTG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3347G>T (p.Gly1116Val)	1287	COL4A5	Pathogenic	281874713	RCV000021500;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898661	107898661	NM_000495.4:c.3347G>T	NP_000486.1:p.Gly1116Val	NC_000023.10:g.107898661G>T	ARUP_COL4A5:NM_000495.3:c.3347G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3373+1G>A	1287	COL4A5	Pathogenic	281874714	RCV000021501;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898688	107898688	NM_000495.4:c.3373+1G>A		NC_000023.10:g.107898688G>A	ARUP_COL4A5:NM_000495.3:c.3373+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3374-?_3790+?del	1287	COL4A5	Pathogenic	-1	RCV000021503;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107898688	107913457	NM_000495.4:c.3374-?_3790+?del			COL4A5 homepage - Collagen, type IV, alpha:COL4A5_00393	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3374-11C>A	1287	COL4A5	Pathogenic	104886387	RCV000021502;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107908726	107908726	NM_000495.4:c.3374-11C>A		NC_000023.10:g.107908726C>A	ARUP_COL4A5:NM_000495.3:c.3374-11C>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3403_3418del16ins3	1287	COL4A5	Pathogenic	672601246	RCV000021507;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107908766	107908781	NM_000495.4:c.3403_3418del16ins3			-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3413delC (p.Pro1138Leufs)	1287	COL4A5	Pathogenic	104886227	RCV000021508;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107908776	107908776	NM_000495.4:c.3413delC	NP_000486.1:p.Pro1138Leufs	NC_000023.10:g.107908776delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3427G>A (p.Gly1143Ser)	1287	COL4A5	Pathogenic	104886228	RCV000021509;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107908790	107908790	NM_000495.4:c.3427G>A	NP_000486.1:p.Gly1143Ser	NC_000023.10:g.107908790G>A	ARUP_COL4A5:NM_000495.3:c.3427G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3428G>A (p.Gly1143Asp)	1287	COL4A5	Pathogenic	104886229	RCV000011204;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107908791	107908791	NM_000495.4:c.3428G>A	NP_000486.1:p.Gly1143Asp	NC_000023.10:g.107908791G>A	ARUP_COL4A5:NM_000495.3:c.3428G>A,OMIM Allelic Variant:303630.0006	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3454+1G>T	1287	COL4A5	Pathogenic	281874715	RCV000021511;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107908818	107908818	NM_000495.4:c.3454+1G>T		NC_000023.10:g.107908818G>T	ARUP_COL4A5:NM_000495.3:c.3454+1G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3455-9A>G	1287	COL4A5	Pathogenic	104886388	RCV000021512;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909717	107909717	NM_000495.4:c.3455-9A>G		NC_000023.10:g.107909717A>G	ARUP_COL4A5:NM_000495.3:c.3455-9A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3472G>T (p.Gly1158Trp)	1287	COL4A5	Pathogenic	104886389	RCV000021513;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909743	107909743	NM_000495.4:c.3472G>T	NP_000486.1:p.Gly1158Trp	NC_000023.10:g.107909743G>T	ARUP_COL4A5:NM_000495.3:c.3472G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3474delG (p.Gln1159Asnfs)	1287	COL4A5	Pathogenic	104886234	RCV000021514;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909745	107909745	NM_000495.4:c.3474delG	NP_000486.1:p.Gln1159Asnfs	NC_000023.10:g.107909745delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3481G>A (p.Gly1161Arg)	1287	COL4A5	Pathogenic	104886235	RCV000021515;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909752	107909752	NM_000495.4:c.3481G>A	NP_000486.1:p.Gly1161Arg	NC_000023.10:g.107909752G>A	ARUP_COL4A5:NM_000495.3:c.3481G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3499G>A (p.Gly1167Ser)	1287	COL4A5	Pathogenic	104886236	RCV000021516;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909770	107909770	NM_000495.4:c.3499G>A	NP_000486.1:p.Gly1167Ser	NC_000023.10:g.107909770G>A	ARUP_COL4A5:NM_000495.3:c.3499G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3508G>A (p.Gly1170Ser)	1287	COL4A5	Pathogenic	104886237	RCV000021517;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909779	107909779	NM_000495.4:c.3508G>A	NP_000486.1:p.Gly1170Ser	NC_000023.10:g.107909779G>A	ARUP_COL4A5:NM_000495.3:c.3508G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3509delG (p.Gly1170Valfs)	1287	COL4A5	Pathogenic	104886238	RCV000021518;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909780	107909780	NM_000495.4:c.3509delG	NP_000486.1:p.Gly1170Valfs	NC_000023.10:g.107909780delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3513A>G (p.Gln1171=)	1287	COL4A5	Benign	2273051	RCV000021519;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909784	107909784	NM_000495.4:c.3513A>G	NP_000486.1:p.Gln1171=	NC_000023.10:g.107909784A>G	ARUP_COL4A5:NM_000495.3:c.3513A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3527delG (p.Gly1176Aspfs)	1287	COL4A5	Pathogenic	104886239	RCV000021520;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909798	107909798	NM_000495.4:c.3527delG	NP_000486.1:p.Gly1176Aspfs	NC_000023.10:g.107909798delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3535G>A (p.Gly1179Arg)	1287	COL4A5	Pathogenic	104886240	RCV000021521;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909806	107909806	NM_000495.4:c.3535G>A	NP_000486.1:p.Gly1179Arg	NC_000023.10:g.107909806G>A	ARUP_COL4A5:NM_000495.3:c.3535G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3538C>T (p.Gln1180Ter)	1287	COL4A5	Pathogenic	104886241	RCV000021522;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909809	107909809	NM_000495.4:c.3538C>T	NP_000486.1:p.Gln1180Ter	NC_000023.10:g.107909809C>T	ARUP_COL4A5:NM_000495.3:c.3538C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3543_3549delGGGTGAA (p.Lys1181Asnfs)	1287	COL4A5	Pathogenic	281874716	RCV000021523;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909814	107909820	NM_000495.4:c.3543_3549delGGGTGAA	NP_000486.1:p.Lys1181Asnfs	NC_000023.10:g.107909814_107909820delGGGTGAA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3544G>C (p.Gly1182Arg)	1287	COL4A5	Pathogenic	104886242	RCV000021524;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909815	107909815	NM_000495.4:c.3544G>C	NP_000486.1:p.Gly1182Arg	NC_000023.10:g.107909815G>C	ARUP_COL4A5:NM_000495.3:c.3544G>C	C1567742 301050 Alport syndrome, X-linked recessive
COL4A5:c.3554-?_3604+?del (p.?)	1287	COL4A5	Pathogenic	-1	RCV000021528;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107909825	107911548	NM_000495.4:c.3554-?_3604+?del			dbVar:nssv7487025,dbVar:nsv1197375	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3554-9C>G	1287	COL4A5	Pathogenic	104886383	RCV000021525;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107910354	107910354	NM_000495.4:c.3554-9C>G		NC_000023.10:g.107910354C>G	ARUP_COL4A5:NM_000495.3:c.3554-9C>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3554-3C>G	1287	COL4A5	Pathogenic	104886382	RCV000021526;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107910360	107910360	NM_000495.4:c.3554-3C>G		NC_000023.10:g.107910360C>G	ARUP_COL4A5:NM_000495.3:c.3554-3C>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3554-1G>A	1287	COL4A5	Pathogenic	104886381	RCV000021527;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107910362	107910362	NM_000495.4:c.3554-1G>A		NC_000023.10:g.107910362G>A	ARUP_COL4A5:NM_000495.3:c.3554-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3582C>T (p.Pro1194=)	1287	COL4A5	Benign	104886243	RCV000021529;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107910391	107910391	NM_000495.4:c.3582C>T	NP_000486.1:p.Pro1194=	NC_000023.10:g.107910391C>T	ARUP_COL4A5:NM_000495.3:c.3582C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3586G>A (p.Gly1196Arg)	1287	COL4A5	Pathogenic	104886244	RCV000021530;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107910395	107910395	NM_000495.4:c.3586G>A	NP_000486.1:p.Gly1196Arg	NC_000023.10:g.107910395G>A	ARUP_COL4A5:NM_000495.3:c.3586G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3587G>A (p.Gly1196Glu)	1287	COL4A5	Pathogenic	281874717	RCV000021531;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107910396	107910396	NM_000495.4:c.3587G>A	NP_000486.1:p.Gly1196Glu	NC_000023.10:g.107910396G>A	ARUP_COL4A5:NM_000495.3:c.3587G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3605-2A>G	1287	COL4A5	Pathogenic	104886385	RCV000021534;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911547	107911547	NM_000495.4:c.3605-2A>G		NC_000023.10:g.107911547A>G	ARUP_COL4A5:NM_000495.3:c.3605-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3605-1G>A	1287	COL4A5	Pathogenic	104886384	RCV000021535;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911548	107911548	NM_000495.4:c.3605-1G>A		NC_000023.10:g.107911548G>A	ARUP_COL4A5:NM_000495.3:c.3605-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3613G>T (p.Gly1205Cys)	1287	COL4A5	Pathogenic	104886245	RCV000021537;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911557	107911557	NM_000495.4:c.3613G>T	NP_000486.1:p.Gly1205Cys	NC_000023.10:g.107911557G>A,NC_000023.10:g.107911557G>T	ARUP_COL4A5:NM_000495.3:c.3613G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3613G>A (p.Gly1205Ser)	1287	COL4A5	Pathogenic	104886245	RCV000021538;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911557	107911557	NM_000495.4:c.3613G>A	NP_000486.1:p.Gly1205Ser	NC_000023.10:g.107911557G>A,NC_000023.10:g.107911557G>T	ARUP_COL4A5:NM_000495.3:c.3613G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3631G>C (p.Gly1211Arg)	1287	COL4A5	Pathogenic	104886246	RCV000021540;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911575	107911575	NM_000495.4:c.3631G>C	NP_000486.1:p.Gly1211Arg	NC_000023.10:g.107911575G>C	ARUP_COL4A5:NM_000495.3:c.3631G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3632G>A (p.Gly1211Glu)	1287	COL4A5	Pathogenic	104886247	RCV000021541;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911576	107911576	NM_000495.4:c.3632G>A	NP_000486.1:p.Gly1211Glu	NC_000023.10:g.107911576G>A	ARUP_COL4A5:NM_000495.3:c.3632G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3641G>A (p.Gly1214Glu)	1287	COL4A5	Pathogenic	104886248	RCV000021542;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911585	107911585	NM_000495.4:c.3641G>A	NP_000486.1:p.Gly1214Glu	NC_000023.10:g.107911585G>A	ARUP_COL4A5:NM_000495.3:c.3641G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3647delC (p.Pro1216Leufs)	1287	COL4A5	Pathogenic	104886249	RCV000021543;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911591	107911591	NM_000495.4:c.3647delC	NP_000486.1:p.Pro1216Leufs	NC_000023.10:g.107911591delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3657_3728del72 (p.Lys1222_Pro1245del)	1287	COL4A5	Pathogenic	104886391	RCV000021544;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911601	107911672	NM_000495.4:c.3657_3728del72	NP_000486.1:p.Lys1222_Pro1245del	NC_000023.10:g.107911601_107911672del72	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3659G>A (p.Gly1220Asp)	1287	COL4A5	Pathogenic	104886251	RCV000021545;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911603	107911603	NM_000495.4:c.3659G>A	NP_000486.1:p.Gly1220Asp	NC_000023.10:g.107911603G>A	ARUP_COL4A5:NM_000495.3:c.3659G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3668G>T (p.Gly1223Val)	1287	COL4A5	Pathogenic	104886252	RCV000021546;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911612	107911612	NM_000495.4:c.3668G>T	NP_000486.1:p.Gly1223Val	NC_000023.10:g.107911612G>T	ARUP_COL4A5:NM_000495.3:c.3668G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3686G>A (p.Gly1229Asp)	1287	COL4A5	Pathogenic	104886253	RCV000021547;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911630	107911630	NM_000495.4:c.3686G>A	NP_000486.1:p.Gly1229Asp	NC_000023.10:g.107911630G>A	ARUP_COL4A5:NM_000495.3:c.3686G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3692delC (p.Pro1231Leufs)	1287	COL4A5	Pathogenic	104886254	RCV000021548;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911636	107911636	NM_000495.4:c.3692delC	NP_000486.1:p.Pro1231Leufs	NC_000023.10:g.107911636delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3692dupC (p.Gly1232Trpfs)	1287	COL4A5	Pathogenic	281874718	RCV000021549;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911636	107911636	NM_000495.4:c.3692dupC	NP_000486.1:p.Gly1232Trpfs	NC_000023.10:g.107911636dupC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3694G>A (p.Gly1232Ser)	1287	COL4A5	Pathogenic	104886250	RCV000021550;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911638	107911638	NM_000495.4:c.3694G>A	NP_000486.1:p.Gly1232Ser	NC_000023.10:g.107911638G>A	ARUP_COL4A5:NM_000495.3:c.3694G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3700C>T (p.Gln1234Ter)	1287	COL4A5	Pathogenic	281874719	RCV000021551;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911644	107911644	NM_000495.4:c.3700C>T	NP_000486.1:p.Gln1234Ter	NC_000023.10:g.107911644C>T	ARUP_COL4A5:NM_000495.3:c.3700C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3706_3722del17insT (p.Pro1236Phefs)	1287	COL4A5	Pathogenic	281874720	RCV000021552;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911650	107911666	NM_000495.4:c.3706_3722del17insT	NP_000486.1:p.Pro1236Phefs	NC_000023.10:g.107911650_107911666del17insT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3709_3710dupCC (p.Gly1238Glnfs)	1287	COL4A5	Pathogenic	104886392	RCV000021554;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911653	107911654	NM_000495.4:c.3709_3710dupCC	NP_000486.1:p.Gly1238Glnfs	NC_000023.10:g.107911653_107911654dupCC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3710_3761del52 (p.Pro1237Leufs)	1287	COL4A5	Pathogenic	104886393	RCV000021553;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911654	107911705	NM_000495.4:c.3710_3761del52	NP_000486.1:p.Pro1237Leufs	NC_000023.10:g.107911654_107911705del52	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3721G>T (p.Gly1241Cys)	1287	COL4A5	Pathogenic	104886255	RCV000021555;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911665	107911665	NM_000495.4:c.3721G>T	NP_000486.1:p.Gly1241Cys	NC_000023.10:g.107911665G>T	ARUP_COL4A5:NM_000495.3:c.3721G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3722G>T (p.Gly1241Val)	1287	COL4A5	Pathogenic	281874721	RCV000021556;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911666	107911666	NM_000495.4:c.3722G>T	NP_000486.1:p.Gly1241Val	NC_000023.10:g.107911666G>T	ARUP_COL4A5:NM_000495.3:c.3722G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3731G>A (p.Gly1244Asp)	1287	COL4A5	Pathogenic	104886261	RCV000021557;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911675	107911675	NM_000495.4:c.3731G>A	NP_000486.1:p.Gly1244Asp	NC_000023.10:g.107911675G>A	ARUP_COL4A5:NM_000495.3:c.3731G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3754G>A (p.Gly1252Ser)	1287	COL4A5	Pathogenic	104886262	RCV000021558;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911698	107911698	NM_000495.4:c.3754G>A	NP_000486.1:p.Gly1252Ser	NC_000023.10:g.107911698G>A	ARUP_COL4A5:NM_000495.3:c.3754G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3754_3757dupGGCA (p.Asn1253Argfs)	1287	COL4A5	Pathogenic	104886394	RCV000021559;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911698	107911701	NM_000495.4:c.3754_3757dupGGCA	NP_000486.1:p.Asn1253Argfs	NC_000023.10:g.107911698_107911701dupGGCA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3763G>A (p.Gly1255Arg)	1287	COL4A5	Pathogenic	104886263	RCV000021560;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911707	107911707	NM_000495.4:c.3763G>A	NP_000486.1:p.Gly1255Arg	NC_000023.10:g.107911707G>A	ARUP_COL4A5:NM_000495.3:c.3763G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3782G>A (p.Gly1261Glu)	1287	COL4A5	Pathogenic	104886264	RCV000021561;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911726	107911726	NM_000495.4:c.3782G>A	NP_000486.1:p.Gly1261Glu	NC_000023.10:g.107911726G>A	ARUP_COL4A5:NM_000495.3:c.3782G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3790+1delG	1287	COL4A5	Pathogenic	104886256	RCV000021562;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107911735	107911735	NM_000495.4:c.3790+1delG		NC_000023.10:g.107911735delG	ARUP_COL4A5:NM_000495.3:c.3790+1delG	C1567742 301050 Alport syndrome, X-linked recessive
COL4A5:c.3791-?_3924+?del (p.?)	1287	COL4A5	Pathogenic	-1	RCV000021563;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107917984	107923908	NM_000495.4:c.(3791_3791)-2746_(3924_3924)del			dbVar:nssv7487026,dbVar:nsv1197376	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3808G>A (p.Gly1270Ser)	1287	COL4A5	Pathogenic	104886257	RCV000021564;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107920747	107920747	NM_000495.4:c.3808G>A	NP_000486.1:p.Gly1270Ser	NC_000023.10:g.107920747G>A	ARUP_COL4A5:NM_000495.3:c.3808G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3814delC (p.Pro1272Glnfs)	1287	COL4A5	Pathogenic	104886258	RCV000021565;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107920753	107920753	NM_000495.4:c.3814delC	NP_000486.1:p.Pro1272Glnfs	NC_000023.10:g.107920753delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3866_3869dupAACC (p.Gly1291Thrfs)	1287	COL4A5	Pathogenic	606231370	RCV000021566;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107920805	107920808	NM_000495.4:c.3866_3869dupAACC	NP_000486.1:p.Gly1291Thrfs	NC_000023.10:g.107920805_107920808dupAACC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3920delT (p.Leu1307Profs)	1287	COL4A5	Pathogenic	104886259	RCV000021567;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107920859	107920859	NM_000495.4:c.3920delT	NP_000486.1:p.Leu1307Profs	NC_000023.10:g.107920859delT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3924G>C (p.Gln1308His)	1287	COL4A5	Pathogenic	281874724	RCV000021568;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107920863	107920863	NM_000495.4:c.3924G>C	NP_000486.1:p.Gln1308His	NC_000023.10:g.107920863G>C	ARUP_COL4A5:NM_000495.3:c.3924G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.3942+1G>C (p.?)	1287	COL4A5	Pathogenic	483352870	RCV000021569;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107920864	107920864	NM_033380.2:c.3942+1G>C	NP_203699.1:p.?	NC_000023.10:g.107920864G>C	ARUP_COL4A5:NM_000495.3:c.3924+1G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3925-2A>G	1287	COL4A5	Pathogenic	587776400	RCV000021570;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107923907	107923907	NM_000495.4:c.3925-2A>G		X:g.107923907A>G	ARUP_COL4A5:NM_000495.3:c.3925-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3925-1G>A	1287	COL4A5	Pathogenic	281874725	RCV000021571;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107923908	107923908	NM_000495.4:c.3925-1G>A		NC_000023.10:g.107923908G>A	ARUP_COL4A5:NM_000495.3:c.3925-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3958A>T (p.Lys1320Ter)	1287	COL4A5	Pathogenic	104886260	RCV000021573;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107923942	107923942	NM_000495.4:c.3958A>T	NP_000486.1:p.Lys1320Ter	NC_000023.10:g.107923942A>T	ARUP_COL4A5:NM_000495.3:c.3958A>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3992delT (p.Phe1331Serfs)	1287	COL4A5	Pathogenic	104886265	RCV000021574;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107923976	107923976	NM_000495.4:c.3992delT	NP_000486.1:p.Phe1331Serfs	NC_000023.10:g.107923976delT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3997G>A (p.Gly1333Ser)	1287	COL4A5	Pathogenic	104886266	RCV000021575;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107923981	107923981	NM_000495.4:c.3997G>A	NP_000486.1:p.Gly1333Ser	NC_000023.10:g.107923981G>A	ARUP_COL4A5:NM_000495.3:c.3997G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3998-2A>T	1287	COL4A5	Pathogenic	104886397	RCV000021576;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107924113	107924113	NM_000495.4:c.3998-2A>T		NC_000023.10:g.107924113A>G,NC_000023.10:g.107924113A>T	ARUP_COL4A5:NM_000495.3:c.3998-2A>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3998-2A>G	1287	COL4A5	Pathogenic	104886397	RCV000021577;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107924113	107924113	NM_000495.4:c.3998-2A>G		NC_000023.10:g.107924113A>G,NC_000023.10:g.107924113A>T	ARUP_COL4A5:NM_000495.3:c.3998-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.3998-1G>A	1287	COL4A5	Pathogenic	797045035	RCV000191073;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107924114	107924114	NM_000495.4:c.3998-1G>A		NC_000023.10:g.107924114G>A	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4006G>T (p.Gly1336Ter)	1287	COL4A5	Pathogenic	-1	RCV000021578;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107924123	107924123	NM_000495.4:c.4006G>T	NP_000486.1:p.Gly1336Ter	X:g.107924123G>T	ARUP_COL4A5:NM_000495.3:c.4006G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4069G>A (p.Gly1357Ser)	1287	COL4A5	Pathogenic	104886267	RCV000021580;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107924186	107924186	NM_000495.4:c.4069G>A	NP_000486.1:p.Gly1357Ser	NC_000023.10:g.107924186G>A	ARUP_COL4A5:NM_000495.3:c.4069G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4069+1G>A	1287	COL4A5	Pathogenic	587776401	RCV000021581;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107924187	107924187	NM_000495.4:c.4069+1G>A		NC_000023.10:g.107924187G>A	ARUP_COL4A5:NM_000495.3:c.4069+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4071delT (p.Pro1358Leufs)	1287	COL4A5	Pathogenic	104886268	RCV000021583;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107924991	107924991	NM_000495.4:c.4071delT	NP_000486.1:p.Pro1358Leufs	NC_000023.10:g.107924991delT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4102_4103delAG (p.Ser1368Tyrfs)	1287	COL4A5	Pathogenic	104886403	RCV000021584;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107925022	107925023	NM_000495.4:c.4102_4103delAG	NP_000486.1:p.Ser1368Tyrfs	NC_000023.10:g.107925022_107925023delAG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4136G>T (p.Gly1379Val)	1287	COL4A5	Pathogenic	104886269	RCV000021585;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107925056	107925056	NM_000495.4:c.4136G>T	NP_000486.1:p.Gly1379Val	NC_000023.10:g.107925056G>T	ARUP_COL4A5:NM_000495.3:c.4136G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4147C>T (p.Gln1383Ter)	1287	COL4A5	Pathogenic	281874727	RCV000021586;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107925067	107925067	NM_000495.4:c.4147C>T	NP_000486.1:p.Gln1383Ter	NC_000023.10:g.107925067C>T	ARUP_COL4A5:NM_000495.3:c.4147C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4161_4162insTCCT (p.Gly1388Serfs)	1287	COL4A5	Pathogenic	606231371	RCV000021587;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107925081	107925082	NM_000495.4:c.4161_4162insTCCT	NP_000486.1:p.Gly1388Serfs	NC_000023.10:g.107925081_107925082insTCCT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4171G>T (p.Gly1391Ter)	1287	COL4A5	Pathogenic	281874728	RCV000021588;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107925091	107925091	NM_000495.4:c.4171G>T	NP_000486.1:p.Gly1391Ter	NC_000023.10:g.107925091G>T	ARUP_COL4A5:NM_000495.3:c.4171G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4177C>T (p.Gln1393Ter)	1287	COL4A5	Pathogenic	104886405	RCV000021590;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107925097	107925097	NM_000495.4:c.4177C>T	NP_000486.1:p.Gln1393Ter	NC_000023.10:g.107925097C>T	ARUP_COL4A5:NM_000495.3:c.4177C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4177delC (p.Gln1393Lysfs)	1287	COL4A5	Pathogenic	281874729	RCV000021591;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107925097	107925097	NM_000495.4:c.4177delC	NP_000486.1:p.Gln1393Lysfs	NC_000023.10:g.107925097delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4196dupC (p.Gly1400Argfs)	1287	COL4A5	Pathogenic	104886409	RCV000021592;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107925116	107925116	NM_000495.4:c.4196dupC	NP_000486.1:p.Gly1400Argfs	NC_000023.10:g.107925116dupC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4199-1G>A	1287	COL4A5	Pathogenic	587776402	RCV000021593;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929260	107929260	NM_000495.4:c.4199-1G>A		X:g.107929260G>A	ARUP_COL4A5:NM_000495.3:c.4199-1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4214dupC (p.Gly1406Argfs)	1287	COL4A5	Pathogenic	281874731	RCV000021596;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929276	107929276	NM_000495.4:c.4214dupC	NP_000486.1:p.Gly1406Argfs	NC_000023.10:g.107929276dupC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4228C>T (p.Arg1410Cys)	1287	COL4A5	Pathogenic	104886270	RCV000021597;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929290	107929290	NM_000495.4:c.4228C>T	NP_000486.1:p.Arg1410Cys	NC_000023.10:g.107929290C>T	ARUP_COL4A5:NM_000495.3:c.4228C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4235delG (p.Gly1412Aspfs)	1287	COL4A5	Pathogenic	281874732	RCV000032082;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929297	107929297	NM_000495.4:c.4235delG	NP_000486.1:p.Gly1412Aspfs	NC_000023.10:g.107929297delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4239C>T (p.Leu1413=)	1287	COL4A5	Benign	104886271	RCV000021598;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929301	107929301	NM_000495.4:c.4239C>T	NP_000486.1:p.Leu1413=	NC_000023.10:g.107929301C>T	ARUP_COL4A5:NM_000495.3:c.4239C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4261G>T (p.Gly1421Trp)	1287	COL4A5	Pathogenic	104886272	RCV000021600;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929323	107929323	NM_000495.4:c.4261G>T	NP_000486.1:p.Gly1421Trp	NC_000023.10:g.107929323G>T	ARUP_COL4A5:NM_000495.3:c.4261G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4264C>T (p.Arg1422Cys)	1287	COL4A5	Pathogenic	144282156	RCV000011210;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929326	107929326	NM_000495.4:c.4264C>T	NP_000486.1:p.Arg1422Cys	NC_000023.10:g.107929326C>T	OMIM Allelic Variant:303630.0012	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4271G>A (p.Gly1424Glu)	1287	COL4A5	Pathogenic	281874733	RCV000032084;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929333	107929333	NM_000495.4:c.4271G>A	NP_000486.1:p.Gly1424Glu	NC_000023.10:g.107929333G>A	ARUP_COL4A5:NM_000495.3:c.4271G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4275C>T (p.Asp1425=)	1287	COL4A5	Benign	61746140	RCV000021601;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929337	107929337	NM_000495.4:c.4275C>T	NP_000486.1:p.Asp1425=	NC_000023.10:g.107929337C>T	ARUP_COL4A5:NM_000495.3:c.4275C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4279G>T (p.Gly1427Cys)	1287	COL4A5	Pathogenic	104886273	RCV000021602;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929341	107929341	NM_000495.4:c.4279G>T	NP_000486.1:p.Gly1427Cys	NC_000023.10:g.107929341G>T	ARUP_COL4A5:NM_000495.3:c.4279G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4280G>T (p.Gly1427Val)	1287	COL4A5	Pathogenic	104886274	RCV000021603;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929342	107929342	NM_000495.4:c.4280G>T	NP_000486.1:p.Gly1427Val	NC_000023.10:g.107929342G>C,NC_000023.10:g.107929342G>T	ARUP_COL4A5:NM_000495.3:c.4280G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4280G>C (p.Gly1427Ala)	1287	COL4A5	Pathogenic	104886274	RCV000032085;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929342	107929342	NM_000495.4:c.4280G>C	NP_000486.1:p.Gly1427Ala	NC_000023.10:g.107929342G>C,NC_000023.10:g.107929342G>T	ARUP_COL4A5:NM_000495.3:c.4280G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4297+1G>A	1287	COL4A5	Pathogenic	587776403	RCV000021604;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107929360	107929360	NM_000495.4:c.4297+1G>A		NC_000023.10:g.107929360G>A	ARUP_COL4A5:NM_000495.3:c.4297+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.4316-1G>C (p.?)	1287	COL4A5	Pathogenic	281874734	RCV000021605;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930711	107930711	NM_000495.4:c.4298-1G>C		NC_000023.10:g.107930711G>C	ARUP_COL4A5:NM_000495.3:c.4298-1G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4298G>T (p.Gly1433Val)	1287	COL4A5	Pathogenic	281874735	RCV000032086;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930712	107930712	NM_000495.4:c.4298G>T	NP_000486.1:p.Gly1433Val	NC_000023.10:g.107930712G>T	ARUP_COL4A5:NM_000495.3:c.4298G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4315_4350dup36 (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly)	1287	COL4A5	Pathogenic	281874736	RCV000021607;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930729	107930764	NM_000495.4:c.4315_4350dup36	NP_000486.1:p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly	NC_000023.10:g.107930729_107930764dup36	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4324G>C (p.Gly1442Arg)	1287	COL4A5	Pathogenic	104886276	RCV000021608;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930738	107930738	NM_000495.4:c.4324G>C	NP_000486.1:p.Gly1442Arg	NC_000023.10:g.107930738G>C	ARUP_COL4A5:NM_000495.3:c.4324G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4325_4351del27 (p.Asp1444_Pro1452del)	1287	COL4A5	Pathogenic	104886412	RCV000021609;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930739	107930765	NM_000495.4:c.4325_4351del27	NP_000486.1:p.Asp1444_Pro1452del	NC_000023.10:g.107930739_107930765del27	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4325G>C (p.Gly1442Ala)	1287	COL4A5	Pathogenic	104886277	RCV000021611;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930739	107930739	NM_000495.4:c.4325G>C	NP_000486.1:p.Gly1442Ala	NC_000023.10:g.107930739G>A,NC_000023.10:g.107930739G>C	ARUP_COL4A5:NM_000495.3:c.4325G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4325G>A (p.Gly1442Asp)	1287	COL4A5	Pathogenic	104886277	RCV000021612;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930739	107930739	NM_000495.4:c.4325G>A	NP_000486.1:p.Gly1442Asp	NC_000023.10:g.107930739G>A,NC_000023.10:g.107930739G>C	ARUP_COL4A5:NM_000495.3:c.4325G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4342G>A (p.Gly1448Ser)	1287	COL4A5	Pathogenic	104886279	RCV000021613;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930756	107930756	NM_000495.4:c.4342G>A	NP_000486.1:p.Gly1448Ser	NC_000023.10:g.107930756G>A	ARUP_COL4A5:NM_000495.3:c.4342G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4344_4345insT (p.Pro1449Serfs)	1287	COL4A5	Pathogenic	104886418	RCV000021614;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930758	107930758	NM_000495.4:c.4344_4345insT	NP_000486.1:p.Pro1449Serfs	NC_000023.10:g.107930758dupT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4349delC (p.Pro1450Glnfs)	1287	COL4A5	Pathogenic	104886275	RCV000021615;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930763	107930763	NM_000495.4:c.4349delC	NP_000486.1:p.Pro1450Glnfs	NC_000023.10:g.107930763delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4351G>A (p.Gly1451Ser)	1287	COL4A5	Pathogenic	104886280	RCV000021610;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930765	107930765	NM_000495.4:c.4351G>A	NP_000486.1:p.Gly1451Ser	NC_000023.10:g.107930765G>A	ARUP_COL4A5:NM_000495.3:c.4351G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4436_4437delGA (p.Gly1479Aspfs)	1287	COL4A5	Pathogenic	104886420	RCV000021616;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930850	107930851	NM_000495.4:c.4436_4437delGA	NP_000486.1:p.Gly1479Aspfs	NC_000023.10:g.107930850_107930851delGA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4437delA (p.Thr1480Hisfs)	1287	COL4A5	Pathogenic	104886281	RCV000021617;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930851	107930851	NM_000495.4:c.4437delA	NP_000486.1:p.Thr1480Hisfs	NC_000023.10:g.107930851delA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4439C>G (p.Thr1480Arg)	1287	COL4A5	Pathogenic	281874740	RCV000032087;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930853	107930853	NM_000495.4:c.4439C>G	NP_000486.1:p.Thr1480Arg	NC_000023.10:g.107930853C>G	ARUP_COL4A5:NM_000495.3:c.4439C>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4457G>C (p.Gly1486Ala)	1287	COL4A5	Pathogenic	104886282	RCV000021618;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930871	107930871	NM_000495.4:c.4457G>C	NP_000486.1:p.Gly1486Ala	NC_000023.10:g.107930871G>C	ARUP_COL4A5:NM_000495.3:c.4457G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4463C>T (p.Ser1488Phe)	1287	COL4A5	Pathogenic	104886283	RCV000021619;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930877	107930877	NM_000495.4:c.4463C>T	NP_000486.1:p.Ser1488Phe	NC_000023.10:g.107930877C>T	ARUP_COL4A5:NM_000495.3:c.4463C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4491_4492delAG (p.Arg1497Serfs)	1287	COL4A5	Pathogenic	104886421	RCV000021620;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930905	107930906	NM_000495.4:c.4491_4492delAG	NP_000486.1:p.Arg1497Serfs*17	NC_000023.10:g.107930905_107930906delAG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4493C>A (p.Ala1498Asp)	1287	COL4A5	Pathogenic	104886284	RCV000021621;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930907	107930907	NM_000495.4:c.4493C>A	NP_000486.1:p.Ala1498Asp	NC_000023.10:g.107930907C>A	ARUP_COL4A5:NM_000495.3:c.4493C>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4501C>T (p.Gln1501Ter)	1287	COL4A5	Pathogenic	281874741	RCV000021622;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930915	107930915	NM_000495.4:c.4501C>T	NP_000486.1:p.Gln1501Ter	NC_000023.10:g.107930915C>T	ARUP_COL4A5:NM_000495.3:c.4501C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4510+1G>C	1287	COL4A5	Pathogenic	104886413	RCV000021624;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107930925	107930925	NM_000495.4:c.4510+1G>C		NC_000023.10:g.107930925G>C	ARUP_COL4A5:NM_000495.3:c.4510+1G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4513delA (p.Thr1505Argfs)	1287	COL4A5	Pathogenic	281874742	RCV000021625;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107935980	107935980	NM_000495.4:c.4513delA	NP_000486.1:p.Thr1505Argfs	NC_000023.10:g.107935980delA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4532G>A (p.Arg1511His)	1287	COL4A5	Uncertain significance	104886285	RCV000021627;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107935999	107935999	NM_000495.4:c.4532G>A	NP_000486.1:p.Arg1511His	NC_000023.10:g.107935999G>A	ARUP_COL4A5:NM_000495.3:c.4532G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4549C>A (p.Pro1517Thr)	1287	COL4A5	Pathogenic	201220208	RCV000021628;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107936016	107936016	NM_000495.4:c.4549C>A	NP_000486.1:p.Pro1517Thr	NC_000023.10:g.107936016C>A	ARUP_COL4A5:NM_000495.3:c.4549C>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4563C>A (p.Cys1521Ter)	1287	COL4A5	Pathogenic	104886292	RCV000021629;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107936030	107936030	NM_000495.4:c.4563C>A	NP_000486.1:p.Cys1521Ter	NC_000023.10:g.107936030C>A	ARUP_COL4A5:NM_000495.3:c.4563C>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4613G>C (p.Trp1538Ser)	1287	COL4A5	Pathogenic	104886293	RCV000021630;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107936080	107936080	NM_000495.4:c.4613G>C	NP_000486.1:p.Trp1538Ser	NC_000023.10:g.107936080G>C	ARUP_COL4A5:NM_000495.3:c.4613G>C,OMIM Allelic Variant:303630.0009	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4614G>A (p.Trp1538Ter)	1287	COL4A5	Pathogenic	104886294	RCV000021631;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107936081	107936081	NM_000495.4:c.4614G>A	NP_000486.1:p.Trp1538Ter	NC_000023.10:g.107936081G>A	ARUP_COL4A5:NM_000495.3:c.4614G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4675C>G (p.Pro1559Ala)	1287	COL4A5	Benign	104886295	RCV000021632;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107936142	107936142	NM_000495.4:c.4675C>G	NP_000486.1:p.Pro1559Ala	NC_000023.10:g.107936142C>G	ARUP_COL4A5:NM_000495.3:c.4675C>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4687C>T (p.Arg1563Ter)	1287	COL4A5	Pathogenic	104886286	RCV000021634;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107936154	107936154	NM_000495.4:c.4687C>T	NP_000486.1:p.Arg1563Ter	NC_000023.10:g.107936154C>T	ARUP_COL4A5:NM_000495.3:c.4687C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4688G>A (p.Arg1563Gln)	1287	COL4A5	Pathogenic	281874743	RCV000021636;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107936155	107936155	NM_000495.4:c.4688G>A	NP_000486.1:p.Arg1563Gln	NC_000023.10:g.107936155G>A	ARUP_COL4A5:NM_000495.3:c.4688G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4689-30_4689-9del22insCA	1287	COL4A5	Pathogenic	281874744	RCV000021637;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938007	107938028	NM_000495.4:c.4689-30_4689-9del22insCA		NC_000023.10:g.107938007_107938028del22insCA	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.3(COL4A5):c.4707-3_4735del (p.?)	1287	COL4A5	Pathogenic	-1	RCV000021638;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938034	107938065	NM_033380.2:c.4707-3_4735del32	NP_203699.1:p.?		ARUP_COL4A5:NM_000495.3:c.4689-3del32,COL4A5 homepage - Collagen, type IV, alpha:COL4A5_00223	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4690T>C (p.Cys1564Arg)	1287	COL4A5	Pathogenic	281874745	RCV000021635;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938038	107938038	NM_000495.4:c.4690T>C	NP_000486.1:p.Cys1564Arg	NC_000023.10:g.107938038T>C	ARUP_COL4A5:NM_000495.3:c.4690T>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4691G>C (p.Cys1564Ser)	1287	COL4A5	Pathogenic	104886287	RCV000021640;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938039	107938039	NM_000495.4:c.4691G>C	NP_000486.1:p.Cys1564Ser	NC_000023.10:g.107938039G>C	ARUP_COL4A5:NM_000495.3:c.4691G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4699T>C (p.Cys1567Arg)	1287	COL4A5	Pathogenic	104886288	RCV000021641;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938047	107938047	NM_000495.4:c.4699T>C	NP_000486.1:p.Cys1567Arg	NC_000023.10:g.107938047T>C	ARUP_COL4A5:NM_000495.3:c.4699T>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4702G>A (p.Glu1568Lys)	1287	COL4A5	Pathogenic	281874746	RCV000021642;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938050	107938050	NM_000495.4:c.4702G>A	NP_000486.1:p.Glu1568Lys	NC_000023.10:g.107938050G>A	ARUP_COL4A5:NM_000495.3:c.4702G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4750_4756delCCCCATT (p.Pro1584Valfs)	1287	COL4A5	Pathogenic	606231374	RCV000021643;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938098	107938104	NM_000495.4:c.4750_4756delCCCCATT	NP_000486.1:p.Pro1584Valfs	NC_000023.10:g.107938098_107938104delCCCCATT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4751C>T (p.Pro1584Leu)	1287	COL4A5	Pathogenic	281874747	RCV000021644;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938099	107938099	NM_000495.4:c.4751C>T	NP_000486.1:p.Pro1584Leu	NC_000023.10:g.107938099C>T	ARUP_COL4A5:NM_000495.3:c.4751C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4756T>C (p.Cys1586Arg)	1287	COL4A5	Pathogenic	104886289	RCV000021645;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938104	107938104	NM_000495.4:c.4756T>C	NP_000486.1:p.Cys1586Arg	NC_000023.10:g.107938104T>C	ARUP_COL4A5:NM_000495.3:c.4756T>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4757G>T (p.Cys1586Phe)	1287	COL4A5	Pathogenic	104886290	RCV000021646;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938105	107938105	NM_000495.4:c.4757G>T	NP_000486.1:p.Cys1586Phe	NC_000023.10:g.107938105G>T	ARUP_COL4A5:NM_000495.3:c.4757G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4766G>T (p.Gly1589Val)	1287	COL4A5	Pathogenic	104886291	RCV000021647;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938114	107938114	NM_000495.4:c.4766G>T	NP_000486.1:p.Gly1589Val	NC_000023.10:g.107938114G>T	ARUP_COL4A5:NM_000495.3:c.4766G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4768T>G (p.Trp1590Gly)	1287	COL4A5	Pathogenic	104886296	RCV000021648;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938116	107938116	NM_000495.4:c.4768T>G	NP_000486.1:p.Trp1590Gly	NC_000023.10:g.107938116T>G	ARUP_COL4A5:NM_000495.3:c.4768T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4780_4781delTG (p.Trp1594Aspfs)	1287	COL4A5	Pathogenic	281874749	RCV000032089;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938128	107938129	NM_000495.4:c.4780_4781delTG	NP_000486.1:p.Trp1594Aspfs	NC_000023.10:g.107938128_107938129delTG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4787G>A (p.Gly1596Asp)	1287	COL4A5	Pathogenic	104886297	RCV000021649;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938135	107938135	NM_000495.4:c.4787G>A	NP_000486.1:p.Gly1596Asp	NC_000023.10:g.107938135G>A	ARUP_COL4A5:NM_000495.3:c.4787G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4790A>G (p.Tyr1597Cys)	1287	COL4A5	Pathogenic	104886298	RCV000021650;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938138	107938138	NM_000495.4:c.4790A>G	NP_000486.1:p.Tyr1597Cys	NC_000023.10:g.107938138A>G	ARUP_COL4A5:NM_000495.3:c.4790A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4791T>A (p.Tyr1597Ter)	1287	COL4A5	Pathogenic	104886299	RCV000021651;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938139	107938139	NM_000495.4:c.4791T>A	NP_000486.1:p.Tyr1597Ter	NC_000023.10:g.107938139T>A	ARUP_COL4A5:NM_000495.3:c.4791T>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4803G>A (p.Met1601Ile)	1287	COL4A5	Pathogenic	104886300	RCV000021652;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938151	107938151	NM_000495.4:c.4803G>A	NP_000486.1:p.Met1601Ile	NC_000023.10:g.107938151G>A	ARUP_COL4A5:NM_000495.3:c.4803G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4803+1G>A	1287	COL4A5	Pathogenic	587776404	RCV000021654;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938152	107938152	NM_000495.4:c.4803+1G>A		X:g.107938152G>A	ARUP_COL4A5:NM_000495.3:c.4803+1G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4803+121T>C	1287	COL4A5	Pathogenic	104886423	RCV000021655;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938272	107938272	NM_000495.4:c.4803+121T>C		NC_000023.10:g.107938272T>C	ARUP_COL4A5:NM_000495.3:c.4803+121T>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_033380.2(COL4A5):c.4822-151_4822-150insT (p.?)	1287	COL4A5	Pathogenic	397515494	RCV000021656;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938346	107938347	NM_033380.2:c.4822-151_4822-150insT	NP_203699.1:p.?	NC_000023.10:g.107938346_107938347insT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4832delG (p.Gly1611Valfs)	1287	COL4A5	Pathogenic	104886301	RCV000021657;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938525	107938525	NM_000495.4:c.4832delG	NP_000486.1:p.Gly1611Valfs	NC_000023.10:g.107938525delG	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4894T>G (p.Cys1632Gly)	1287	COL4A5	Pathogenic	281874750	RCV000021658;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938587	107938587	NM_000495.4:c.4894T>G	NP_000486.1:p.Cys1632Gly	NC_000023.10:g.107938587T>G	ARUP_COL4A5:NM_000495.3:c.4894T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4913G>A (p.Cys1638Tyr)	1287	COL4A5	Pathogenic	104886302	RCV000021659;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938606	107938606	NM_000495.4:c.4913G>A	NP_000486.1:p.Cys1638Tyr	NC_000023.10:g.107938606G>A	ARUP_COL4A5:NM_000495.3:c.4913G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4942dupT (p.Trp1648Leufs)	1287	COL4A5	Pathogenic	281874751	RCV000032090;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938635	107938635	NM_000495.4:c.4942dupT	NP_000486.1:p.Trp1648Leufs	NC_000023.10:g.107938635dupT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg)	1287	COL4A5	Pathogenic	104886303	RCV000011212;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938639	107938639	NM_000495.4:c.4946T>G	NP_000486.1:p.Leu1649Arg	NC_000023.10:g.107938639T>G	ARUP_COL4A5:NM_000495.3:c.4946T>G,OMIM Allelic Variant:303630.0014	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4968delC (p.Asp1656Glufs)	1287	COL4A5	Pathogenic	104886304	RCV000021661;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938661	107938661	NM_000495.4:c.4968delC	NP_000486.1:p.Asp1656Glufs	NC_000023.10:g.107938661delC	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4976G>A (p.Ser1659Asn)	1287	COL4A5	Pathogenic	104886305	RCV000021662;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107938669	107938669	NM_000495.4:c.4976G>A	NP_000486.1:p.Ser1659Asn	NC_000023.10:g.107938669G>A	ARUP_COL4A5:NM_000495.3:c.4976G>A	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4977-2A>G	1287	COL4A5	Pathogenic	281874752	RCV000021663;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939525	107939525	NM_000495.4:c.4977-2A>G		NC_000023.10:g.107939525A>G	ARUP_COL4A5:NM_000495.3:c.4977-2A>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.4994_5001delCGCTGAAA (p.Thr1665Serfs)	1287	COL4A5	Pathogenic	104886426	RCV000021664;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939544	107939551	NM_000495.4:c.4994_5001delCGCTGAAA	NP_000486.1:p.Thr1665Serfs		-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.5020C>T (p.Arg1674Ter)	1287	COL4A5	Pathogenic	281874753	RCV000021665;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939570	107939570	NM_000495.4:c.5020C>T	NP_000486.1:p.Arg1674Ter	NC_000023.10:g.107939570C>T	ARUP_COL4A5:NM_000495.3:c.5020C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.5029C>T (p.Arg1677Ter)	1287	COL4A5	Pathogenic	104886306	RCV000021666;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939579	107939579	NM_000495.4:c.5029C>T	NP_000486.1:p.Arg1677Ter	NC_000023.10:g.107939579C>T	ARUP_COL4A5:NM_000495.3:c.5029C>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.5030G>A (p.Arg1677Gln)	1287	COL4A5	Pathogenic	104886308	RCV000011213;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939580	107939580	NM_000495.4:c.5030G>A	NP_000486.1:p.Arg1677Gln	NC_000023.10:g.107939580G>A,NC_000023.10:g.107939580G>C,NC_000023.10:g.107939580	ARUP_COL4A5:NM_000495.3:c.5030G>A,OMIM Allelic Variant:303630.0015	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.5030G>C (p.Arg1677Pro)	1287	COL4A5	Pathogenic	104886308	RCV000021668;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939580	107939580	NM_000495.4:c.5030G>C	NP_000486.1:p.Arg1677Pro	NC_000023.10:g.107939580G>A,NC_000023.10:g.107939580G>C,NC_000023.10:g.107939580	ARUP_COL4A5:NM_000495.3:c.5030G>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.5030G>T (p.Arg1677Leu)	1287	COL4A5	Pathogenic	104886308	RCV000032091;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939580	107939580	NM_000495.4:c.5030G>T	NP_000486.1:p.Arg1677Leu	NC_000023.10:g.107939580G>A,NC_000023.10:g.107939580G>C,NC_000023.10:g.107939580	ARUP_COL4A5:NM_000495.3:c.5030G>T	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.5032T>C (p.Cys1678Arg)	1287	COL4A5	Pathogenic	104886310	RCV000021669;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939582	107939582	NM_000495.4:c.5032T>C	NP_000486.1:p.Cys1678Arg	NC_000023.10:g.107939582T>C	ARUP_COL4A5:NM_000495.3:c.5032T>C	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.5034delT (p.Gln1679Lysfs)	1287	COL4A5	Pathogenic	104886307	RCV000021670;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939584	107939584	NM_000495.4:c.5034delT	NP_000486.1:p.Gln1679Lysfs	NC_000023.10:g.107939584delT	-	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.5034T>G (p.Cys1678Trp)	1287	COL4A5	Pathogenic	104886311	RCV000021671;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939584	107939584	NM_000495.4:c.5034T>G	NP_000486.1:p.Cys1678Trp	NC_000023.10:g.107939584T>G	ARUP_COL4A5:NM_000495.3:c.5034T>G	C1567742 301050 Alport syndrome, X-linked recessive
NM_000495.4(COL4A5):c.5042G>T (p.Cys1681Phe)	1287	COL4A5	Pathogenic	281874754	RCV000021672;	N	MedGen:C1567742,OMIM:301050,ORPHA:88917	X	107939592	107939592	NM_000495.4:c.5042G>T	NP_000486.1:p.Cys1681Phe	NC_000023.10:g.107939592G>T	ARUP_COL4A5:NM_000495.3:c.5042G>T	C1567742 301050 Alport syndrome, X-linked recessive