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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

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

Disease Browser
Parent Node: Blood Coagulation Disorders, Inherited (D025861)
Parent Node: Coagulation Protein Disorders (D020147)
Parent Node: Hemorrhagic Disorders (D006474)
..Starting node ..Hemophilia A (D006467)
Child Nodes:
........Factor 8 deficiency, acquired (C536392)
........FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 (OMIM:227300)
........FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 (OMIM:613625)
........Familial Multiple Coagulation Factor Deficiency I (C565577)
........Hemophilia A with Vascular Abnormality (C564415)
Sister Nodes:
..Afibrinogenemia (D000347) 3
..Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells (C538539)
..Anti-plasmin deficiency, congenital (C537777)
..Antithrombin, Familial Hemorrhagic Diathesis due to (C565947)
..Bernard-Soulier Syndrome (D001606) 5
..Disseminated Intravascular Coagulation (D004211)
..Factor V Deficiency (D005166) 4
..Factor VII Deficiency (D005168)
..Factor X Deficiency (D005171)
..Factor XI Deficiency (D005173)
..Factor XII Deficiency (D005175)
..Factor XIII Deficiency (D005177) 2
..Hemophilia A (D006467) 5
..Hemophilia B (D002836)
..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..Hemostatic Disorders (D020141) 48
..Hypoprothrombinemias (D007020) 2
..Plasminogen Activator Inhibitor-1 Deficiency (C567640)
..Platelet Storage Pool Deficiency (D010981) 5
..Purpura, Thrombocytopenic, Idiopathic (D016553)
..Thrombasthenia (D013915) 3
..Thrombocythemia, Essential (D013920)
..Vitamin K Deficiency (D014813) 1
..von Willebrand Diseases (D014842) 6
..Waterhouse-Friderichsen Syndrome (D014884) 1
..Wiskott-Aldrich Syndrome (D014923) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5044

Name:

Hemophilia A

Definition:

The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.

Alternative IDs:

OMIM:306700

ParentIDs:

MESH:D006474|MESH:D020147|MESH:D025861

TreeNumbers:

C15.378.100.100.500 |C15.378.100.141.500 |C15.378.463.500 |C16.320.099.500

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: D006467
MeSH: D006467
OMIM: 306700;

Genes:

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000978	Bruising susceptibility
3	HP:0005261	Joint hemorrhage
4	HP:0002758	Osteoarthritis
5	HP:0001934	Persistent bleeding after trauma
6	HP:0003645	Prolonged partial thromboplastin time
7	HP:0003125	Reduced factor VIII activity

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_000132.3(F8):c.6977G>T (p.Arg2326Leu)	2157	F8	Pathogenic	137852360	RCV000010821;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154065951	154065951	NM_000132.3:c.6977G>T	NP_000123.1:p.Arg2326Leu	NC_000023.10:g.154065951C>A,NC_000023.10:g.154065951C>T	OMIM Allelic Variant:300841.0025	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6977G>A (p.Arg2326Gln)	2157	F8	Pathogenic	137852360	RCV000010839;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154065951	154065951	NM_000132.3:c.6977G>A	NP_000123.1:p.Arg2326Gln	NC_000023.10:g.154065951C>A,NC_000023.10:g.154065951C>T	OMIM Allelic Variant:300841.0042	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6976C>T (p.Arg2326Ter)	2157	F8	Pathogenic	137852354	RCV000010797;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154065952	154065952	NM_000132.3:c.6976C>T	NP_000123.1:p.Arg2326Ter	NC_000023.10:g.154065952G>A	OMIM Allelic Variant:300841.0001	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6968G>A (p.Arg2323His)	2157	F8	Pathogenic	137852474	RCV000011047;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154065960	154065960	NM_000132.3:c.6968G>A	NP_000123.1:p.Arg2323His	NC_000023.10:g.154065960C>T	OMIM Allelic Variant:300841.0251	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6967C>T (p.Arg2323Cys)	2157	F8	Pathogenic	137852473	RCV000011046;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154065961	154065961	NM_000132.3:c.6967C>T	NP_000123.1:p.Arg2323Cys	NC_000023.10:g.154065961G>A	OMIM Allelic Variant:300841.0250	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6956C>T (p.Pro2319Leu)	2157	F8	Pathogenic	137852472	RCV000011045;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154065972	154065972	NM_000132.3:c.6956C>T	NP_000123.1:p.Pro2319Leu	NC_000023.10:g.154065972G>A	OMIM Allelic Variant:300841.0249	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6955C>T (p.Pro2319Ser)	2157	F8	Pathogenic	137852374	RCV000010860;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154065973	154065973	NM_000132.3:c.6955C>T	NP_000123.1:p.Pro2319Ser	NC_000023.10:g.154065973G>A	OMIM Allelic Variant:300841.0064	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6912_6916delAAATC (p.Asn2305Argfs)	2157	F8	Pathogenic	387906466	RCV000011044;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154066012	154066016	NM_000132.3:c.6912_6916delAAATC	NP_000123.1:p.Asn2305Argfs	NC_000023.10:g.154066012_154066016delGATTT	OMIM Allelic Variant:300841.0248	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6865C>T (p.Gln2289Ter)	2157	F8	Pathogenic	137852471	RCV000011043;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154088742	154088742	NM_000132.3:c.6865C>T	NP_000123.1:p.Gln2289Ter	NC_000023.10:g.154088742G>A	OMIM Allelic Variant:300841.0247	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6794_6795delAG (p.Gln2265Argfs)	2157	F8	Pathogenic	387906465	RCV000011042;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154088812	154088813	NM_000132.3:c.6794_6795delAG	NP_000123.1:p.Gln2265Argfs	NC_000023.10:g.154088812_154088813delCT	OMIM Allelic Variant:300841.0246	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6794A>G (p.Gln2265Arg)	2157	F8	Pathogenic	137852470	RCV000011041;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154088813	154088813	NM_000132.3:c.6794A>G	NP_000123.1:p.Gln2265Arg	NC_000023.10:g.154088813T>C	OMIM Allelic Variant:300841.0245	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6769A>G (p.Met2257Val)	2157	F8	Benign	1800297	RCV000033894;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154088838	154088838	NM_000132.3:c.6769A>G	NP_000123.1:p.Met2257Val	NC_000023.10:g.154088838T>C	-	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6744G>T (p.Trp2248Cys)	2157	F8	Pathogenic	137852469	RCV000011040;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154088863	154088863	NM_000132.3:c.6744G>T	NP_000123.1:p.Trp2248Cys	NC_000023.10:g.154088863C>A	OMIM Allelic Variant:300841.0244	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6699delG (p.Arg2234Glyfs)	2157	F8	Pathogenic	387906464	RCV000011039;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154090017	154090017	NM_000132.3:c.6699delG	NP_000123.1:p.Arg2234Glyfs	NC_000023.10:g.154090017delC	OMIM Allelic Variant:300841.0243	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6683G>A (p.Arg2228Gln)	2157	F8	Pathogenic	137852358	RCV000010810;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154090033	154090033	NM_000132.3:c.6683G>A	NP_000123.1:p.Arg2228Gln	NC_000023.10:g.154090033C>A,NC_000023.10:g.154090033C>T	OMIM Allelic Variant:300841.0014	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6683G>T (p.Arg2228Leu)	2157	F8	Pathogenic	137852358	RCV000011037;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154090033	154090033	NM_000132.3:c.6683G>T	NP_000123.1:p.Arg2228Leu	NC_000023.10:g.154090033C>A,NC_000023.10:g.154090033C>T	OMIM Allelic Variant:300841.0241	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6682C>T (p.Arg2228Ter)	2157	F8	Pathogenic	137852355	RCV000010798;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154090034	154090034	NM_000132.3:c.6682C>T	NP_000123.1:p.Arg2228Ter	NC_000023.10:g.154090034G>A,NC_000023.10:g.154090034G>C	OMIM Allelic Variant:300841.0002	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6682C>G (p.Arg2228Gly)	2157	F8	Pathogenic	137852355	RCV000011038;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154090034	154090034	NM_000132.3:c.6682C>G	NP_000123.1:p.Arg2228Gly	NC_000023.10:g.154090034G>A,NC_000023.10:g.154090034G>C	OMIM Allelic Variant:300841.0242	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6631G>C (p.Ala2211Pro)	2157	F8	Pathogenic	137852468	RCV000011035;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154090085	154090085	NM_000132.3:c.6631G>C	NP_000123.1:p.Ala2211Pro	NC_000023.10:g.154090085C>G	OMIM Allelic Variant:300841.0239	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6554T>C (p.Leu2185Ser)	2157	F8	Pathogenic	137852365	RCV000010840;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091378	154091378	NM_000132.3:c.6554T>C	NP_000123.1:p.Leu2185Ser	NC_000023.10:g.154091378A>G	OMIM Allelic Variant:300841.0043	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6545G>A (p.Arg2182His)	2157	F8	Pathogenic	137852466	RCV000011033;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091387	154091387	NM_000132.3:c.6545G>A	NP_000123.1:p.Arg2182His	NC_000023.10:g.154091387C>T	OMIM Allelic Variant:300841.0237	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6544C>T (p.Arg2182Cys)	2157	F8	Pathogenic	137852467	RCV000011034;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091388	154091388	NM_000132.3:c.6544C>T	NP_000123.1:p.Arg2182Cys	NC_000023.10:g.154091388G>A	OMIM Allelic Variant:300841.0238	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6533G>T (p.Arg2178Leu)	2157	F8	Pathogenic	137852465	RCV000011027;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091399	154091399	NM_000132.3:c.6533G>T	NP_000123.1:p.Arg2178Leu	NC_000023.10:g.154091399C>A,NC_000023.10:g.154091399C>T	OMIM Allelic Variant:300841.0235	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6533G>A (p.Arg2178His)	2157	F8	Pathogenic	137852465	RCV000011032;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091399	154091399	NM_000132.3:c.6533G>A	NP_000123.1:p.Arg2178His	NC_000023.10:g.154091399C>A,NC_000023.10:g.154091399C>T	OMIM Allelic Variant:300841.0236	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6532C>T (p.Arg2178Cys)	2157	F8	Pathogenic	137852464	RCV000011031;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091400	154091400	NM_000132.3:c.6532C>T	NP_000123.1:p.Arg2178Cys	NC_000023.10:g.154091400G>A	OMIM Allelic Variant:300841.0234	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6518C>T (p.Thr2173Ile)	2157	F8	Pathogenic	137852463	RCV000011030;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091414	154091414	NM_000132.3:c.6518C>T	NP_000123.1:p.Thr2173Ile	NC_000023.10:g.154091414G>A	OMIM Allelic Variant:300841.0233	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6515C>A (p.Pro2172Gln)	2157	F8	Pathogenic	137852462	RCV000011029;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091417	154091417	NM_000132.3:c.6515C>A	NP_000123.1:p.Pro2172Gln	NC_000023.10:g.154091417G>T	OMIM Allelic Variant:300841.0232	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6506G>A (p.Arg2169His)	2157	F8	Pathogenic	137852461	RCV000011028;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091426	154091426	NM_000132.3:c.6506G>A	NP_000123.1:p.Arg2169His	NC_000023.10:g.154091426C>T	OMIM Allelic Variant:300841.0231	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6496C>T (p.Arg2166Ter)	2157	F8	Pathogenic	137852357	RCV000010808;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091436	154091436	NM_000132.3:c.6496C>T	NP_000123.1:p.Arg2166Ter	NC_000023.10:g.154091436G>A	OMIM Allelic Variant:300841.0012	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6464_6465delAA (p.Lys2155Thrfs)	2157	F8	Pathogenic	387906463	RCV000011026;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154091467	154091468	NM_000132.3:c.6464_6465delAA	NP_000123.1:p.Lys2155Thrfs	NC_000023.10:g.154091467_154091468delTT	OMIM Allelic Variant:300841.0230	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6413C>A (p.Ser2138Tyr)	2157	F8	Pathogenic	137852460	RCV000011024;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154124368	154124368	NM_000132.3:c.6413C>A	NP_000123.1:p.Ser2138Tyr	NC_000023.10:g.154124368G>T	OMIM Allelic Variant:300841.0228	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6412_6413delTC (p.Ser2138Hisfs)	2157	F8	Pathogenic	387906462	RCV000011025;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154124368	154124369	NM_000132.3:c.6412_6413delTC	NP_000123.1:p.Ser2138Hisfs	NC_000023.10:g.154124368_154124369delGA	OMIM Allelic Variant:300841.0229	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6404G>C (p.Arg2135Pro)	2157	F8	Pathogenic	137852366	RCV000010841;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154124377	154124377	NM_000132.3:c.6404G>C	NP_000123.1:p.Arg2135Pro	NC_000023.10:g.154124377C>G	OMIM Allelic Variant:300841.0044	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6403C>T (p.Arg2135Ter)	2157	F8	Pathogenic	137852356	RCV000010800;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154124378	154124378	NM_000132.3:c.6403C>T	NP_000123.1:p.Arg2135Ter	NC_000023.10:g.154124378G>A	OMIM Allelic Variant:300841.0004	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6371A>G (p.Tyr2124Cys)	2157	F8	Pathogenic	137852459	RCV000011023;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154124410	154124410	NM_000132.3:c.6371A>G	NP_000123.1:p.Tyr2124Cys	NC_000023.10:g.154124410T>C	OMIM Allelic Variant:300841.0227	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6360T>G (p.Phe2120Leu)	2157	F8	Pathogenic	137852458	RCV000011022;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154124421	154124421	NM_000132.3:c.6360T>G	NP_000123.1:p.Phe2120Leu	NC_000023.10:g.154124421A>C	OMIM Allelic Variant:300841.0226	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6278A>G (p.Asp2093Gly)	2157	F8	Pathogenic	137852457	RCV000011021;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154124503	154124503	NM_000132.3:c.6278A>G	NP_000123.1:p.Asp2093Gly	NC_000023.10:g.154124503T>C	OMIM Allelic Variant:300841.0225	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6263C>T (p.Ser2088Phe)	2157	F8	Pathogenic	137852456	RCV000011020;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154128151	154128151	NM_000132.3:c.6263C>T	NP_000123.1:p.Ser2088Phe	NC_000023.10:g.154128151G>A	OMIM Allelic Variant:300841.0224	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6193T>C (p.Trp2065Arg)	2157	F8	Pathogenic	137852455	RCV000011019;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154128221	154128221	NM_000132.3:c.6193T>C	NP_000123.1:p.Trp2065Arg	NC_000023.10:g.154128221A>G	OMIM Allelic Variant:300841.0223	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6113A>G (p.Asn2038Ser)	2157	F8	Pathogenic	137852454	RCV000011018;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154130328	154130328	NM_000132.3:c.6113A>G	NP_000123.1:p.Asn2038Ser	NC_000023.10:g.154130328T>C	OMIM Allelic Variant:300841.0222	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6049delG (p.Val2017Trpfs)	2157	F8	Pathogenic	387906461	RCV000011015;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154130392	154130392	NM_000132.3:c.6049delG	NP_000123.1:p.Val2017Trpfs	NC_000023.10:g.154130392delC	OMIM Allelic Variant:300841.0219	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6046C>T (p.Arg2016Trp)	2157	F8	Pathogenic	137852453	RCV000011017;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154130395	154130395	NM_000132.3:c.6046C>T	NP_000123.1:p.Arg2016Trp	NC_000023.10:g.154130395G>A	OMIM Allelic Variant:300841.0221	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.6016G>T (p.Glu2006Ter)	2157	F8	Pathogenic	267606791	RCV000011016;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154130425	154130425	NM_000132.3:c.6016G>T	NP_000123.1:p.Glu2006Ter	NC_000023.10:g.154130425C>A	OMIM Allelic Variant:300841.0220	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5961delA (p.Glu1988Argfs)	2157	F8	Pathogenic	387906460	RCV000011014;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132218	154132218	NM_000132.3:c.5961delA	NP_000123.1:p.Glu1988Argfs	NC_000023.10:g.154132218delT	OMIM Allelic Variant:300841.0218	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5953C>T (p.Arg1985Ter)	2157	F8	Pathogenic	137852452	RCV000011013;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132226	154132226	NM_000132.3:c.5953C>T	NP_000123.1:p.Arg1985Ter	NC_000023.10:g.154132226G>A	OMIM Allelic Variant:300841.0217	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5938C>T (p.His1980Tyr)	2157	F8	Pathogenic	137852451	RCV000011012;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132241	154132241	NM_000132.3:c.5938C>T	NP_000123.1:p.His1980Tyr	NC_000023.10:g.154132241G>A	OMIM Allelic Variant:300841.0216	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5936G>T (p.Gly1979Val)	2157	F8	Pathogenic	137852450	RCV000011011;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132243	154132243	NM_000132.3:c.5936G>T	NP_000123.1:p.Gly1979Val	NC_000023.10:g.154132243C>A	OMIM Allelic Variant:300841.0215	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5900G>A (p.Gly1967Asp)	2157	F8	Pathogenic	111033615	RCV000011010;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132279	154132279	NM_000132.3:c.5900G>A	NP_000123.1:p.Gly1967Asp	NC_000023.10:g.154132279C>T	OMIM Allelic Variant:300841.0214	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5882G>A (p.Trp1961Ter)	2157	F8	Pathogenic	137852449	RCV000011009;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132297	154132297	NM_000132.3:c.5882G>A	NP_000123.1:p.Trp1961Ter	NC_000023.10:g.154132297C>T	OMIM Allelic Variant:300841.0213	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5879G>A (p.Arg1960Gln)	2157	F8	Pathogenic	28937294	RCV000010822;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132300	154132300	NM_000132.3:c.5879G>A	NP_000123.1:p.Arg1960Gln	NC_000023.10:g.154132300C>A,NC_000023.10:g.154132300C>T	OMIM Allelic Variant:300841.0026	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5879G>T (p.Arg1960Leu)	2157	F8	Pathogenic	28937294	RCV000011008;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132300	154132300	NM_000132.3:c.5879G>T	NP_000123.1:p.Arg1960Leu	NC_000023.10:g.154132300C>A,NC_000023.10:g.154132300C>T	OMIM Allelic Variant:300841.0212	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5878C>T (p.Arg1960Ter)	2157	F8	Pathogenic	137852363	RCV000010831;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132301	154132301	NM_000132.3:c.5878C>T	NP_000123.1:p.Arg1960Ter	NC_000023.10:g.154132301G>A	OMIM Allelic Variant:300841.0034	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5822A>G (p.Asn1941Ser)	2157	F8	Pathogenic	28933682	RCV000011007;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132357	154132357	NM_000132.3:c.5822A>G	NP_000123.1:p.Asn1941Ser	NC_000023.10:g.154132357T>C	OMIM Allelic Variant:300841.0211	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5821A>G (p.Asn1941Asp)	2157	F8	Pathogenic	137852369	RCV000010853;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132358	154132358	NM_000132.3:c.5821A>G	NP_000123.1:p.Asn1941Asp	NC_000023.10:g.154132358T>C	OMIM Allelic Variant:300841.0057	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5719dupA (p.Ser1907Lysfs)	2157	F8	Pathogenic	387906459	RCV000011006;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132667	154132667	NM_000132.3:c.5719dupA	NP_000123.1:p.Ser1907Lysfs	NC_000023.10:g.154132667dupT	OMIM Allelic Variant:300841.0210	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5710G>A (p.Glu1904Lys)	2157	F8	Pathogenic	28933681	RCV000011005;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132676	154132676	NM_000132.3:c.5710G>A	NP_000123.1:p.Glu1904Lys	NC_000023.10:g.154132676C>T	OMIM Allelic Variant:300841.0209	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5677C>T (p.Gln1893Ter)	2157	F8	Pathogenic	137852448	RCV000011004;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132709	154132709	NM_000132.3:c.5677C>T	NP_000123.1:p.Gln1893Ter	NC_000023.10:g.154132709G>A	OMIM Allelic Variant:300841.0208	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5622dupT (p.Leu1875Serfs)	2157	F8	Pathogenic	387906458	RCV000011003;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132764	154132764	NM_000132.3:c.5622dupT	NP_000123.1:p.Leu1875Serfs	NC_000023.10:g.154132764dupA	OMIM Allelic Variant:300841.0207	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5618C>G (p.Pro1873Arg)	2157	F8	Pathogenic	28933680	RCV000011002;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132768	154132768	NM_000132.3:c.5618C>G	NP_000123.1:p.Pro1873Arg	NC_000023.10:g.154132768G>C	OMIM Allelic Variant:300841.0206	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5600A>G (p.His1867Arg)	2157	F8	Pathogenic	28933679	RCV000011001;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132786	154132786	NM_000132.3:c.5600A>G	NP_000123.1:p.His1867Arg	NC_000023.10:g.154132786T>C	OMIM Allelic Variant:300841.0205	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5593G>A (p.Asp1865Asn)	2157	F8	Pathogenic	28933678	RCV000010999;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132793	154132793	NM_000132.3:c.5593G>A	NP_000123.1:p.Asp1865Asn	NC_000023.10:g.154132793C>A,NC_000023.10:g.154132793C>T	OMIM Allelic Variant:300841.0203	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5593G>T (p.Asp1865Tyr)	2157	F8	Pathogenic	28933678	RCV000011000;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154132793	154132793	NM_000132.3:c.5593G>T	NP_000123.1:p.Asp1865Tyr	NC_000023.10:g.154132793C>A,NC_000023.10:g.154132793C>T	OMIM Allelic Variant:300841.0204	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5558C>T (p.Ala1853Val)	2157	F8	Pathogenic	28933677	RCV000010997;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133114	154133114	NM_000132.3:c.5558C>T	NP_000123.1:p.Ala1853Val	NC_000023.10:g.154133114G>A	OMIM Allelic Variant:300841.0201	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5533A>C (p.Thr1845Pro)	2157	F8	Pathogenic	28933676	RCV000010995;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133139	154133139	NM_000132.3:c.5533A>C	NP_000123.1:p.Thr1845Pro	NC_000023.10:g.154133139T>G	OMIM Allelic Variant:300841.0199	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5530C>T (p.Pro1844Ser)	2157	F8	Pathogenic	28933675	RCV000010994;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133142	154133142	NM_000132.3:c.5530C>T	NP_000123.1:p.Pro1844Ser	NC_000023.10:g.154133142G>A	OMIM Allelic Variant:300841.0198	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5526G>A (p.Met1842Ile)	2157	F8	Pathogenic	28933674	RCV000010993;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133146	154133146	NM_000132.3:c.5526G>A	NP_000123.1:p.Met1842Ile	NC_000023.10:g.154133146C>T	OMIM Allelic Variant:300841.0197	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5479A>T (p.Lys1827Ter)	2157	F8	Pathogenic	387906457	RCV000010996;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133193	154133193	NM_000132.3:c.5479A>T	NP_000123.1:p.Lys1827Ter	NC_000023.10:g.154133193T>A	OMIM Allelic Variant:300841.0200	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5443C>T (p.Gln1815Ter)	2157	F8	Pathogenic	137852446	RCV000010992;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133229	154133229	NM_000132.3:c.5443C>T	NP_000123.1:p.Gln1815Ter	NC_000023.10:g.154133229G>A	OMIM Allelic Variant:300841.0196	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5422C>T (p.Leu1808Phe)	2157	F8	Pathogenic	137852445	RCV000010991;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133250	154133250	NM_000132.3:c.5422C>T	NP_000123.1:p.Leu1808Phe	NC_000023.10:g.154133250G>A	OMIM Allelic Variant:300841.0195	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5408C>A (p.Ser1803Tyr)	2157	F8	Pathogenic	137852444	RCV000010990;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133264	154133264	NM_000132.3:c.5408C>A	NP_000123.1:p.Ser1803Tyr	NC_000023.10:g.154133264G>T	OMIM Allelic Variant:300841.0194	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5399G>A (p.Arg1800His)	2157	F8	Pathogenic	137852442	RCV000010987;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133273	154133273	NM_000132.3:c.5399G>A	NP_000123.1:p.Arg1800His	NC_000023.10:g.154133273C>T	OMIM Allelic Variant:300841.0191	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5398C>T (p.Arg1800Cys)	2157	F8	Pathogenic	137852443	RCV000010988;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133274	154133274	NM_000132.3:c.5398C>T	NP_000123.1:p.Arg1800Cys	NC_000023.10:g.154133274G>A,NC_000023.10:g.154133274G>C	OMIM Allelic Variant:300841.0192	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5398C>G (p.Arg1800Gly)	2157	F8	Pathogenic	137852443	RCV000010989;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154133274	154133274	NM_000132.3:c.5398C>G	NP_000123.1:p.Arg1800Gly	NC_000023.10:g.154133274G>A,NC_000023.10:g.154133274G>C	OMIM Allelic Variant:300841.0193	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5372T>C (p.Met1791Thr)	2157	F8	Pathogenic	137852375	RCV000010861;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154134696	154134696	NM_000132.3:c.5372T>C	NP_000123.1:p.Met1791Thr	NC_000023.10:g.154134696A>G	OMIM Allelic Variant:300841.0065	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5336G>A (p.Gly1779Glu)	2157	F8	Pathogenic	28937289	RCV000010986;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154134732	154134732	NM_000132.3:c.5336G>A	NP_000123.1:p.Gly1779Glu	NC_000023.10:g.154134732C>T	OMIM Allelic Variant:300841.0190	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5325G>C (p.Leu1775Phe)	2157	F8	Pathogenic	137852441	RCV000010985;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154134743	154134743	NM_000132.3:c.5325G>C	NP_000123.1:p.Leu1775Phe	NC_000023.10:g.154134743C>G	OMIM Allelic Variant:300841.0189	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5323T>G (p.Leu1775Val)	2157	F8	Pathogenic	28937287	RCV000010984;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154134745	154134745	NM_000132.3:c.5323T>G	NP_000123.1:p.Leu1775Val	NC_000023.10:g.154134745A>C	OMIM Allelic Variant:300841.0188	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5305G>A (p.Gly1769Arg)	2157	F8	Pathogenic	137852440	RCV000010983;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154134763	154134763	NM_000132.3:c.5305G>A	NP_000123.1:p.Gly1769Arg	NC_000023.10:g.154134763C>T	OMIM Allelic Variant:300841.0187	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.2114-?_5219+?del (p.?)	2157	F8	Pathogenic	-1	RCV000010844;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154134848	154175973	NM_000132.3:c.2114-?_5219+?del	NP_000123.1:p.?		OMIM Allelic Variant:300841.0047,dbVar:nssv7487161,dbVar:nsv1197517	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5183A>G (p.Tyr1728Cys)	2157	F8	Pathogenic	137852362	RCV000010829;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154156882	154156882	NM_000132.3:c.5183A>G	NP_000123.1:p.Tyr1728Cys	NC_000023.10:g.154156882T>C	OMIM Allelic Variant:300841.0032	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5167G>A (p.Glu1723Lys)	2157	F8	Pathogenic	137852373	RCV000010859;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154156898	154156898	NM_000132.3:c.5167G>A	NP_000123.1:p.Glu1723Lys	NC_000023.10:g.154156898C>T	OMIM Allelic Variant:300841.0063	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5143C>T (p.Arg1715Ter)	2157	F8	Pathogenic	137852439	RCV000010980;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154156922	154156922	NM_000132.3:c.5143C>T	NP_000123.1:p.Arg1715Ter	NC_000023.10:g.154156922G>A,NC_000023.10:g.154156922G>C	OMIM Allelic Variant:300841.0184	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5143C>G (p.Arg1715Gly)	2157	F8	Pathogenic	137852439	RCV000010981;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154156922	154156922	NM_000132.3:c.5143C>G	NP_000123.1:p.Arg1715Gly	NC_000023.10:g.154156922G>A,NC_000023.10:g.154156922G>C	OMIM Allelic Variant:300841.0185	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5123G>A (p.Arg1708His)	2157	F8	Pathogenic	111033614	RCV000010979;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154156942	154156942	NM_000132.3:c.5123G>A	NP_000123.1:p.Arg1708His	NC_000023.10:g.154156942C>T	OMIM Allelic Variant:300841.0183	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5122C>T (p.Arg1708Cys)	2157	F8	Pathogenic	111033613	RCV000010826; RCV000010827;	N	; MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154156943	154156943	NM_000132.3:c.5122C>T	NP_000123.1:p.Arg1708Cys	NC_000023.10:g.154156943G>A	OMIM Allelic Variant:300841.0030	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5113C>T (p.Gln1705Ter)	2157	F8	Pathogenic	137852361	RCV000010824;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154156952	154156952	NM_000132.3:c.5113C>T	NP_000123.1:p.Gln1705Ter	NC_000023.10:g.154156952G>A	OMIM Allelic Variant:300841.0028	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe)	2157	F8	Pathogenic	28935203	RCV000010828;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154156969	154156969	NM_000132.3:c.5096A>T	NP_000123.1:p.Tyr1699Phe	NC_000023.10:g.154156969T>A	OMIM Allelic Variant:300841.0031	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.4858delC (p.Leu1620Terfs)	2157	F8	Pathogenic	387906456	RCV000010977;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154157207	154157207	NM_000132.3:c.4858delC	NP_000123.1:p.Leu1620Terfs	NC_000023.10:g.154157207delG	OMIM Allelic Variant:300841.0181	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.4825dupA (p.Thr1609Asnfs)	2157	F8	Pathogenic	397514036	RCV000010976;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154157240	154157240	NM_000132.3:c.4825dupA	NP_000123.1:p.Thr1609Asnfs	NC_000023.10:g.154157240dupT	OMIM Allelic Variant:300841.0180	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.4379delA (p.Asn1460Ilefs)	2157	F8	Pathogenic	387906455	RCV000010974;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154157686	154157686	NM_000132.3:c.4379delA	NP_000123.1:p.Asn1460Ilefs	NC_000023.10:g.154157686delT	OMIM Allelic Variant:300841.0178	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.4328_4331delAAGA (p.Lys1443Ilefs)	2157	F8	Pathogenic	387906454	RCV000010972;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154157734	154157737	NM_000132.3:c.4328_4331delAAGA	NP_000123.1:p.Lys1443Ilefs	NC_000023.10:g.154157734_154157737delTCTT	OMIM Allelic Variant:300841.0176	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.4293_4297delCTCTT (p.His1434Serfs)	2157	F8	Pathogenic	387906453	RCV000010971;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154157768	154157772	NM_000132.3:c.4293_4297delCTCTT	NP_000123.1:p.His1434Serfs	NC_000023.10:g.154157768_154157772delAAGAG	OMIM Allelic Variant:300841.0175	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.4121_4124delTAGA (p.Ile1374Thrfs)	2157	F8	Pathogenic	387906452	RCV000010969;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154157941	154157944	NM_000132.3:c.4121_4124delTAGA	NP_000123.1:p.Ile1374Thrfs	NC_000023.10:g.154157941_154157944delTCTA	OMIM Allelic Variant:300841.0173	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.3864A>C (p.Ser1288=)	2157	F8	Benign	1800292	RCV000033893;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154158201	154158201	NM_000132.3:c.3864A>C	NP_000123.1:p.Ser1288=	NC_000023.10:g.154158201T>G	-	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.3780C>G (p.Asp1260Glu)	2157	F8	Benign	1800291	RCV000033892;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154158285	154158285	NM_000132.3:c.3780C>G	NP_000123.1:p.Asp1260Glu	NC_000023.10:g.154158285G>C	-	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.3692delC (p.Pro1231Leufs)	2157	F8	Pathogenic	387906451	RCV000010967;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154158373	154158373	NM_000132.3:c.3692delC	NP_000123.1:p.Pro1231Leufs	NC_000023.10:g.154158373delG	OMIM Allelic Variant:300841.0171	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.3637delA (p.Ile1213Phefs)	2157	F8	Pathogenic	387906450	RCV000010966;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154158428	154158428	NM_000132.3:c.3637delA	NP_000123.1:p.Ile1213Phefs	NC_000023.10:g.154158428delT	OMIM Allelic Variant:300841.0170	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.3548_3549delAA (p.Lys1183Argfs)	2157	F8	Pathogenic	387906449	RCV000010965;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154158516	154158517	NM_000132.3:c.3548_3549delAA	NP_000123.1:p.Lys1183Argfs	NC_000023.10:g.154158516_154158517delTT	OMIM Allelic Variant:300841.0169	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys)	2157	F8	Likely pathogenic;Pathogenic	28933673	RCV000010964;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154158896	154158896	NM_000132.3:c.3169G>A	NP_000123.1:p.Glu1057Lys	NC_000023.10:g.154158896C>T	OMIM Allelic Variant:300841.0168	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.2962_2963delAG (p.Ser988Trpfs)	2157	F8	Pathogenic	387906448	RCV000010963;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154159102	154159103	NM_000132.3:c.2962_2963delAG	NP_000123.1:p.Ser988Trpfs	NC_000023.10:g.154159102_154159103delCT	OMIM Allelic Variant:300841.0167	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.2945dupA (p.Asn982Lysfs)	2157	F8	Pathogenic	387906447	RCV000010962;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154159120	154159120	NM_000132.3:c.2945dupA	NP_000123.1:p.Asn982Lysfs	NC_000023.10:g.154159120dupT	OMIM Allelic Variant:300841.0166	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.2383A>T (p.Arg795Ter)	2157	F8	Pathogenic	2228152	RCV000010961;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154159682	154159682	NM_000132.3:c.2383A>T	NP_000123.1:p.Arg795Ter	NC_000023.10:g.154159682T>A	OMIM Allelic Variant:300841.0165	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.2215G>A (p.Glu739Lys)	2157	F8	Pathogenic	28937285	RCV000010960;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154159850	154159850	NM_000132.3:c.2215G>A	NP_000123.1:p.Glu739Lys	NC_000023.10:g.154159850C>T	OMIM Allelic Variant:300841.0164	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.2167G>A (p.Ala723Thr)	2157	F8	Pathogenic	137852436	RCV000010959;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154159898	154159898	NM_000132.3:c.2167G>A	NP_000123.1:p.Ala723Thr	NC_000023.10:g.154159898C>T	OMIM Allelic Variant:300841.0163	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.2149C>T (p.Arg717Trp)	2157	F8	Pathogenic	137852435	RCV000010958;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154159916	154159916	NM_000132.3:c.2149C>T	NP_000123.1:p.Arg717Trp	NC_000023.10:g.154159916G>A	OMIM Allelic Variant:300841.0162	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.2029T>C (p.Phe677Leu)	2157	F8	Pathogenic	137852434	RCV000010957;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154176057	154176057	NM_000132.3:c.2029T>C	NP_000123.1:p.Phe677Leu	NC_000023.10:g.154176057A>G	OMIM Allelic Variant:300841.0161	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1988C>T (p.Ala663Val)	2157	F8	Pathogenic	137852433	RCV000010955;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154176098	154176098	NM_000132.3:c.1988C>T	NP_000123.1:p.Ala663Val	NC_000023.10:g.154176098G>A	OMIM Allelic Variant:300841.0159	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1965C>G (p.Tyr655Ter)	2157	F8	Pathogenic	137852432	RCV000010954;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154176121	154176121	NM_000132.3:c.1965C>G	NP_000123.1:p.Tyr655Ter	NC_000023.10:g.154176121G>C	OMIM Allelic Variant:300841.0158	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1958T>C (p.Val653Ala)	2157	F8	Pathogenic	137852430	RCV000010952;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154176128	154176128	NM_000132.3:c.1958T>C	NP_000123.1:p.Val653Ala	NC_000023.10:g.154176128A>G	OMIM Allelic Variant:300841.0156	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1957G>A (p.Val653Met)	2157	F8	Pathogenic	137852431	RCV000010953;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154176129	154176129	NM_000132.3:c.1957G>A	NP_000123.1:p.Val653Met	NC_000023.10:g.154176129C>T	OMIM Allelic Variant:300841.0157	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1892A>G (p.Asn631Ser)	2157	F8	Pathogenic	137852429	RCV000010950;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154182178	154182178	NM_000132.3:c.1892A>G	NP_000123.1:p.Asn631Ser	NC_000023.10:g.154182178T>C	OMIM Allelic Variant:300841.0154	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1834C>T (p.Arg612Cys)	2157	F8	Pathogenic	137852428	RCV000010949;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154182236	154182236	NM_000132.3:c.1834C>T	NP_000123.1:p.Arg612Cys	NC_000023.10:g.154182236G>A	OMIM Allelic Variant:300841.0153	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1814A>C (p.Tyr605Ser)	2157	F8	Pathogenic	137852427	RCV000010948;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154182256	154182256	NM_000132.3:c.1814A>C	NP_000123.1:p.Tyr605Ser	NC_000023.10:g.154182256T>G	OMIM Allelic Variant:300841.0152	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1812G>C (p.Trp604Cys)	2157	F8	Pathogenic	137852426	RCV000010947;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154182258	154182258	NM_000132.3:c.1812G>C	NP_000123.1:p.Trp604Cys	NC_000023.10:g.154182258C>G	OMIM Allelic Variant:300841.0151	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1808G>T (p.Ser603Ile)	2157	F8	Pathogenic	137852425	RCV000010946;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154182262	154182262	NM_000132.3:c.1808G>T	NP_000123.1:p.Ser603Ile	NC_000023.10:g.154182262C>A	OMIM Allelic Variant:300841.0150	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1804C>T (p.Arg602Ter)	2157	F8	Pathogenic	137852424	RCV000010945;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154182266	154182266	NM_000132.3:c.1804C>T	NP_000123.1:p.Arg602Ter	NC_000023.10:g.154182266G>A	OMIM Allelic Variant:300841.0149	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1754T>C (p.Ile585Thr)	2157	F8	Pathogenic	137852376	RCV000010862;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154182316	154182316	NM_000132.3:c.1754T>C	NP_000123.1:p.Ile585Thr	NC_000023.10:g.154182316A>G	OMIM Allelic Variant:300841.0066	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1750C>A (p.Gln584Lys)	2157	F8	Pathogenic	137852422	RCV000010943;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185234	154185234	NM_000132.3:c.1750C>A	NP_000123.1:p.Gln584Lys	NC_000023.10:g.154185234G>T	OMIM Allelic Variant:300841.0147	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1730C>T (p.Ser577Phe)	2157	F8	Pathogenic	28937282	RCV000010942;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185254	154185254	NM_000132.3:c.1730C>T	NP_000123.1:p.Ser577Phe	NC_000023.10:g.154185254G>A	OMIM Allelic Variant:300841.0146	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1729T>C (p.Ser577Pro)	2157	F8	Pathogenic	387906446	RCV000010944;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185255	154185255	NM_000132.3:c.1729T>C	NP_000123.1:p.Ser577Pro	NC_000023.10:g.154185255A>G	OMIM Allelic Variant:300841.0148	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1726G>T (p.Glu576Ter)	2157	F8	Pathogenic	137852421	RCV000010941;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185258	154185258	NM_000132.3:c.1726G>T	NP_000123.1:p.Glu576Ter	NC_000023.10:g.154185258C>A	OMIM Allelic Variant:300841.0145	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1682A>G (p.Asp561Gly)	2157	F8	Pathogenic	137852420	RCV000010940;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185302	154185302	NM_000132.3:c.1682A>G	NP_000123.1:p.Asp561Gly	NC_000023.10:g.154185302T>C	OMIM Allelic Variant:300841.0144	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1660A>G (p.Ser554Gly)	2157	F8	Pathogenic	137852419	RCV000010939;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185324	154185324	NM_000132.3:c.1660A>G	NP_000123.1:p.Ser554Gly	NC_000023.10:g.154185324T>C	OMIM Allelic Variant:300841.0143	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1649G>A (p.Arg550His)	2157	F8	Pathogenic	137852418	RCV000010938;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185335	154185335	NM_000132.3:c.1649G>A	NP_000123.1:p.Arg550His	NC_000023.10:g.154185335C>T	OMIM Allelic Variant:300841.0142	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1648C>T (p.Arg550Cys)	2157	F8	Pathogenic	137852417	RCV000010936;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185336	154185336	NM_000132.3:c.1648C>T	NP_000123.1:p.Arg550Cys	NC_000023.10:g.154185336G>A,NC_000023.10:g.154185336G>C	OMIM Allelic Variant:300841.0140	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1648C>G (p.Arg550Gly)	2157	F8	Pathogenic	137852417	RCV000010937;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185336	154185336	NM_000132.3:c.1648C>G	NP_000123.1:p.Arg550Gly	NC_000023.10:g.154185336G>A,NC_000023.10:g.154185336G>C	OMIM Allelic Variant:300841.0141	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1636C>T (p.Arg546Trp)	2157	F8	Pathogenic	137852416	RCV000010935;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185348	154185348	NM_000132.3:c.1636C>T	NP_000123.1:p.Arg546Trp	NC_000023.10:g.154185348G>A	OMIM Allelic Variant:300841.0139	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1630G>A (p.Asp544Asn)	2157	F8	Pathogenic	137852415	RCV000010934;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185354	154185354	NM_000132.3:c.1630G>A	NP_000123.1:p.Asp544Asn	NC_000023.10:g.154185354C>T	OMIM Allelic Variant:300841.0138	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1596dupG (p.Thr533Aspfs)	2157	F8	Pathogenic	387906445	RCV000010933;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154185388	154185388	NM_000132.3:c.1596dupG	NP_000123.1:p.Thr533Aspfs	NC_000023.10:g.154185388dupC	OMIM Allelic Variant:300841.0137	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1492G>A (p.Gly498Arg)	2157	F8	Pathogenic	137852414	RCV000010930;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154189395	154189395	NM_000132.3:c.1492G>A	NP_000123.1:p.Gly498Arg	NC_000023.10:g.154189395C>T	OMIM Allelic Variant:300841.0134	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1481T>C (p.Ile494Thr)	2157	F8	Pathogenic	137852413	RCV000010929;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154189406	154189406	NM_000132.3:c.1481T>C	NP_000123.1:p.Ile494Thr	NC_000023.10:g.154189406A>G	OMIM Allelic Variant:300841.0133	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1418A>G (p.Tyr473Cys)	2157	F8	Pathogenic	387906444	RCV000010928;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194270	154194270	NM_000132.3:c.1418A>G	NP_000123.1:p.Tyr473Cys	NC_000023.10:g.154194270T>C	OMIM Allelic Variant:300841.0132	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1417T>C (p.Tyr473His)	2157	F8	Pathogenic	387906443	RCV000010927;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194271	154194271	NM_000132.3:c.1417T>C	NP_000123.1:p.Tyr473His	NC_000023.10:g.154194271A>G	OMIM Allelic Variant:300841.0131	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1348T>A (p.Tyr450Asn)	2157	F8	Pathogenic	111033616	RCV000010926;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194340	154194340	NM_000132.3:c.1348T>A	NP_000123.1:p.Tyr450Asn	NC_000023.10:g.154194340A>T	OMIM Allelic Variant:300841.0130	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1336C>T (p.Arg446Ter)	2157	F8	Pathogenic	137852372	RCV000010858;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194352	154194352	NM_000132.3:c.1336C>T	NP_000123.1:p.Arg446Ter	NC_000023.10:g.154194352G>A	OMIM Allelic Variant:300841.0062	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1331A>G (p.Lys444Arg)	2157	F8	Pathogenic	28937272	RCV000010925;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194357	154194357	NM_000132.3:c.1331A>G	NP_000123.1:p.Lys444Arg	NC_000023.10:g.154194357T>C	OMIM Allelic Variant:300841.0129	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1293G>T (p.Leu431Phe)	2157	F8	Pathogenic	28933672	RCV000010923;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194395	154194395	NM_000132.3:c.1293G>T	NP_000123.1:p.Leu431Phe	NC_000023.10:g.154194395C>A	OMIM Allelic Variant:300841.0127	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1293delG (p.Asn432Thrfs)	2157	F8	Pathogenic	387906442	RCV000010924;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194395	154194395	NM_000132.3:c.1293delG	NP_000123.1:p.Asn432Thrfs	NC_000023.10:g.154194395delC	OMIM Allelic Variant:300841.0128	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1226A>G (p.Glu409Gly)	2157	F8	Pathogenic	28933671	RCV000010922;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194746	154194746	NM_000132.3:c.1226A>G	NP_000123.1:p.Glu409Gly	NC_000023.10:g.154194746T>C	OMIM Allelic Variant:300841.0126	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1214T>G (p.Ile405Ser)	2157	F8	Pathogenic	28933670	RCV000010921;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194758	154194758	NM_000132.3:c.1214T>G	NP_000123.1:p.Ile405Ser	NC_000023.10:g.154194758A>C	OMIM Allelic Variant:300841.0125	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1197_1198delAA (p.Lys399Asnfs)	2157	F8	Pathogenic	387906441	RCV000010920;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194774	154194775	NM_000132.3:c.1197_1198delAA	NP_000123.1:p.Lys399Asnfs	NC_000023.10:g.154194774_154194775delTT	OMIM Allelic Variant:300841.0124	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1175C>A (p.Ser392Ter)	2157	F8	Pathogenic	28933668	RCV000010917;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194797	154194797	NM_000132.3:c.1175C>A	NP_000123.1:p.Ser392Ter		OMIM Allelic Variant:300841.0121	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1175C>T (p.Ser392Leu)	2157	F8	Pathogenic	28933668	RCV000010918;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194797	154194797	NM_000132.3:c.1175C>T	NP_000123.1:p.Ser392Leu	NC_000023.10:g.154194797G>A,NC_000023.10:g.154194797G>T	OMIM Allelic Variant:300841.0122	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1174T>C (p.Ser392Pro)	2157	F8	Pathogenic	28933669	RCV000010919;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194798	154194798	NM_000132.3:c.1174T>C	NP_000123.1:p.Ser392Pro	NC_000023.10:g.154194798A>G	OMIM Allelic Variant:300841.0123	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1171C>T (p.Arg391Cys)	2157	F8	Pathogenic	137852364	RCV000010838;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194801	154194801	NM_000132.3:c.1171C>T	NP_000123.1:p.Arg391Cys	NC_000023.10:g.154194801G>A	OMIM Allelic Variant:300841.0041	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1078_1079delGA (p.Glu360Argfs)	2157	F8	Pathogenic	387906440	RCV000010916;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194893	154194894	NM_000132.3:c.1078_1079delGA	NP_000123.1:p.Glu360Argfs	NC_000023.10:g.154194893_154194894delTC	OMIM Allelic Variant:300841.0120	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1075_1078delAATG (p.Asn359Lysfs)	2157	F8	Pathogenic	387906431	RCV000010856;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194894	154194897	NM_000132.3:c.1075_1078delAATG	NP_000123.1:p.Asn359Lysfs	NC_000023.10:g.154194894_154194897delCATT	OMIM Allelic Variant:300841.0060	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1063C>T (p.Arg355Ter)	2157	F8	Pathogenic	137852368	RCV000010852;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194909	154194909	NM_000132.3:c.1063C>T	NP_000123.1:p.Arg355Ter	NC_000023.10:g.154194909G>A	OMIM Allelic Variant:300841.0055	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1043G>C (p.Cys348Ser)	2157	F8	Pathogenic	137852410	RCV000010915;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194929	154194929	NM_000132.3:c.1043G>C	NP_000123.1:p.Cys348Ser	NC_000023.10:g.154194929C>G	OMIM Allelic Variant:300841.0119	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1033G>T (p.Val345Leu)	2157	F8	Pathogenic	137852371	RCV000010855;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194939	154194939	NM_000132.3:c.1033G>T	NP_000123.1:p.Val345Leu	NC_000023.10:g.154194939C>A	OMIM Allelic Variant:300841.0059	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.1026T>A (p.Tyr342Ter)	2157	F8	Pathogenic	137852408	RCV000010913;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154194946	154194946	NM_000132.3:c.1026T>A	NP_000123.1:p.Tyr342Ter	NC_000023.10:g.154194946A>T	OMIM Allelic Variant:300841.0117	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.986G>A (p.Cys329Tyr)	2157	F8	Pathogenic	137852409	RCV000010914;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197629	154197629	NM_000132.3:c.986G>A	NP_000123.1:p.Cys329Tyr	NC_000023.10:g.154197629C>T	OMIM Allelic Variant:300841.0118	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.985T>C (p.Cys329Arg)	2157	F8	Pathogenic	387906430	RCV000010854;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197630	154197630	NM_000132.3:c.985T>C	NP_000123.1:p.Cys329Arg	NC_000023.10:g.154197630A>G	OMIM Allelic Variant:300841.0058	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.980T>C (p.Leu327Pro)	2157	F8	Pathogenic	137852407	RCV000010912;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197635	154197635	NM_000132.3:c.980T>C	NP_000123.1:p.Leu327Pro	NC_000023.10:g.154197635A>G	OMIM Allelic Variant:300841.0116	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.943delG (p.Ala315Leufs)	2157	F8	Pathogenic	387906439	RCV000010911;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197672	154197672	NM_000132.3:c.943delG	NP_000123.1:p.Ala315Leufs	NC_000023.10:g.154197672delC	OMIM Allelic Variant:300841.0115	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.940A>G (p.Thr314Ala)	2157	F8	Pathogenic	137852406	RCV000010910;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197675	154197675	NM_000132.3:c.940A>G	NP_000123.1:p.Thr314Ala	NC_000023.10:g.154197675T>C	OMIM Allelic Variant:300841.0114	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.935T>C (p.Phe312Ser)	2157	F8	Pathogenic	137852405	RCV000010909;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197680	154197680	NM_000132.3:c.935T>C	NP_000123.1:p.Phe312Ser	NC_000023.10:g.154197680A>G	OMIM Allelic Variant:300841.0113	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.923C>T (p.Ser308Leu)	2157	F8	Pathogenic	137852404	RCV000010908;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197692	154197692	NM_000132.3:c.923C>T	NP_000123.1:p.Ser308Leu	NC_000023.10:g.154197692G>A	OMIM Allelic Variant:300841.0112	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.907delG (p.Ala303Argfs)	2157	F8	Pathogenic	387906438	RCV000010907;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197708	154197708	NM_000132.3:c.907delG	NP_000123.1:p.Ala303Argfs	NC_000023.10:g.154197708delC	OMIM Allelic Variant:300841.0111	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.902G>A (p.Arg301His)	2157	F8	Pathogenic	137852403	RCV000010905;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197713	154197713	NM_000132.3:c.902G>A	NP_000123.1:p.Arg301His	NC_000023.10:g.154197713C>A,NC_000023.10:g.154197713C>T	OMIM Allelic Variant:300841.0109	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.902G>T (p.Arg301Leu)	2157	F8	Pathogenic	137852403	RCV000010906;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197713	154197713	NM_000132.3:c.902G>T	NP_000123.1:p.Arg301Leu	NC_000023.10:g.154197713C>A,NC_000023.10:g.154197713C>T	OMIM Allelic Variant:300841.0110	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.896A>T (p.Asn299Ile)	2157	F8	Pathogenic	137852402	RCV000010904;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197719	154197719	NM_000132.3:c.896A>T	NP_000123.1:p.Asn299Ile	NC_000023.10:g.154197719T>A	OMIM Allelic Variant:300841.0108	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.881C>T (p.Thr294Ile)	2157	F8	Pathogenic	137852401	RCV000010903;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197734	154197734	NM_000132.3:c.881C>T	NP_000123.1:p.Thr294Ile	NC_000023.10:g.154197734G>A	OMIM Allelic Variant:300841.0107	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.872A>G (p.Glu291Gly)	2157	F8	Pathogenic	137852359	RCV000010811;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197743	154197743	NM_000132.3:c.872A>G	NP_000123.1:p.Glu291Gly	NC_000023.10:g.154197743T>C	OMIM Allelic Variant:300841.0015	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.854T>G (p.Val285Gly)	2157	F8	Pathogenic	137852400	RCV000010902;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197761	154197761	NM_000132.3:c.854T>G	NP_000123.1:p.Val285Gly	NC_000023.10:g.154197761A>C	OMIM Allelic Variant:300841.0106	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.849delT (p.Glu284Lysfs)	2157	F8	Pathogenic	387906437	RCV000010901;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197766	154197766	NM_000132.3:c.849delT	NP_000123.1:p.Glu284Lysfs	NC_000023.10:g.154197766delA	OMIM Allelic Variant:300841.0105	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.832G>A (p.Gly278Arg)	2157	F8	Pathogenic	137852399	RCV000010900;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197783	154197783	NM_000132.3:c.832G>A	NP_000123.1:p.Gly278Arg	NC_000023.10:g.154197783C>T	OMIM Allelic Variant:300841.0104	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.822G>A (p.Trp274Ter)	2157	F8	Pathogenic	34371500	RCV000010899;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197793	154197793	NM_000132.3:c.822G>A	NP_000123.1:p.Trp274Ter	NC_000023.10:g.154197793C>T	OMIM Allelic Variant:300841.0103	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.797G>A (p.Gly266Glu)	2157	F8	Pathogenic	137852398	RCV000010898;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154197818	154197818	NM_000132.3:c.797G>A	NP_000123.1:p.Gly266Glu	NC_000023.10:g.154197818C>T	OMIM Allelic Variant:300841.0102	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.687_688delAG (p.Glu230Asnfs)	2157	F8	Pathogenic	387906436	RCV000010894;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154213061	154213062	NM_000132.3:c.687_688delAG	NP_000123.1:p.Glu230Asnfs	NC_000023.10:g.154213061_154213062delCT	OMIM Allelic Variant:300841.0098	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.670G>T (p.Gly224Trp)	2157	F8	Pathogenic	137852397	RCV000010893;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154215512	154215512	NM_000132.3:c.670G>T	NP_000123.1:p.Gly224Trp	NC_000023.10:g.154215512C>A	OMIM Allelic Variant:300841.0097	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.665A>T (p.Asp222Val)	2157	F8	Pathogenic	137852396	RCV000010892;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154215517	154215517	NM_000132.3:c.665A>T	NP_000123.1:p.Asp222Val	NC_000023.10:g.154215517T>A	OMIM Allelic Variant:300841.0096	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.601+1632G>A	2157	F8	Pathogenic	387906429	RCV000010809;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154219579	154219579	NM_000132.3:c.601+1632G>A		NC_000023.10:g.154219579C>T	OMIM Allelic Variant:300841.0013	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.592T>G (p.Cys198Gly)	2157	F8	Pathogenic	137852475	RCV000011064;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221220	154221220	NM_000132.3:c.592T>G	NP_000123.1:p.Cys198Gly	NC_000023.10:g.154221220A>C	OMIM Allelic Variant:300841.0268	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.566C>T (p.Ser189Leu)	2157	F8	Pathogenic	137852367	RCV000010842;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221246	154221246	NM_000132.3:c.566C>T	NP_000123.1:p.Ser189Leu	NC_000023.10:g.154221246G>A	OMIM Allelic Variant:300841.0045	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.554A>C (p.Lys185Thr)	2157	F8	Pathogenic	137852395	RCV000010891;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221258	154221258	NM_000132.3:c.554A>C	NP_000123.1:p.Lys185Thr	NC_000023.10:g.154221258T>G	OMIM Allelic Variant:300841.0095	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.541G>A (p.Val181Met)	2157	F8	Pathogenic	137852394	RCV000010890;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221271	154221271	NM_000132.3:c.541G>A	NP_000123.1:p.Val181Met	NC_000023.10:g.154221271C>T	OMIM Allelic Variant:300841.0094	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.493C>T (p.Pro165Ser)	2157	F8	Pathogenic	137852393	RCV000010889;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221319	154221319	NM_000132.3:c.493C>T	NP_000123.1:p.Pro165Ser	NC_000023.10:g.154221319G>A	OMIM Allelic Variant:300841.0093	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.491G>T (p.Gly164Val)	2157	F8	Pathogenic	137852392	RCV000010888;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221321	154221321	NM_000132.3:c.491G>T	NP_000123.1:p.Gly164Val	NC_000023.10:g.154221321C>A	OMIM Allelic Variant:300841.0092	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.410C>T (p.Thr137Ile)	2157	F8	Pathogenic	137852391	RCV000010887;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221402	154221402	NM_000132.3:c.410C>T	NP_000123.1:p.Thr137Ile	NC_000023.10:g.154221402G>A	OMIM Allelic Variant:300841.0091	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.404A>G (p.Asp135Gly)	2157	F8	Pathogenic	137852390	RCV000010886;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221408	154221408	NM_000132.3:c.404A>G	NP_000123.1:p.Asp135Gly	NC_000023.10:g.154221408T>C	OMIM Allelic Variant:300841.0090	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.398A>G (p.Tyr133Cys)	2157	F8	Pathogenic	137852389	RCV000010885;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221414	154221414	NM_000132.3:c.398A>G	NP_000123.1:p.Tyr133Cys	NC_000023.10:g.154221414T>C	OMIM Allelic Variant:300841.0089	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.396A>C (p.Glu132Asp)	2157	F8	Pathogenic	137852388	RCV000010884;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154221416	154221416	NM_000132.3:c.396A>C	NP_000123.1:p.Glu132Asp	NC_000023.10:g.154221416T>G	OMIM Allelic Variant:300841.0088	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.388G>C (p.Gly130Arg)	2157	F8	Pathogenic	137852387	RCV000010883;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154225248	154225248	NM_000132.3:c.388G>C	NP_000123.1:p.Gly130Arg	NC_000023.10:g.154225248C>G	OMIM Allelic Variant:300841.0087	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.364_365delGT (p.Val122Ilefs)	2157	F8	Pathogenic	387906435	RCV000010873;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154225271	154225272	NM_000132.3:c.364_365delGT	NP_000123.1:p.Val122Ilefs	NC_000023.10:g.154225271_154225272delAC	OMIM Allelic Variant:300841.0077	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.350T>G (p.Leu117Arg)	2157	F8	Pathogenic	137852386	RCV000010882;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154225286	154225286	NM_000132.3:c.350T>G	NP_000123.1:p.Leu117Arg	NC_000023.10:g.154225286A>C	OMIM Allelic Variant:300841.0086	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.328A>G (p.Met110Val)	2157	F8	Pathogenic	137852385	RCV000010881;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154225308	154225308	NM_000132.3:c.328A>G	NP_000123.1:p.Met110Val	NC_000023.10:g.154225308T>C	OMIM Allelic Variant:300841.0085	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.323A>C (p.Lys108Thr)	2157	F8	Pathogenic	137852384	RCV000010880;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154225313	154225313	NM_000132.3:c.323A>C	NP_000123.1:p.Lys108Thr	NC_000023.10:g.154225313T>G	OMIM Allelic Variant:300841.0084	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.311T>A (p.Val104Asp)	2157	F8	Pathogenic	137852383	RCV000010879;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154225325	154225325	NM_000132.3:c.311T>A	NP_000123.1:p.Val104Asp	NC_000023.10:g.154225325A>T	OMIM Allelic Variant:300841.0083	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.296T>A (p.Val99Asp)	2157	F8	Pathogenic	137852382	RCV000010878;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154225340	154225340	NM_000132.3:c.296T>A	NP_000123.1:p.Val99Asp	NC_000023.10:g.154225340A>T	OMIM Allelic Variant:300841.0082	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.275G>T (p.Gly92Val)	2157	F8	Pathogenic	137852381	RCV000010877;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154225361	154225361	NM_000132.3:c.275G>T	NP_000123.1:p.Gly92Val	NC_000023.10:g.154225361C>A	OMIM Allelic Variant:300841.0081	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.266G>A (p.Gly89Asp)	2157	F8	Pathogenic	137852380	RCV000010876;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154225370	154225370	NM_000132.3:c.266G>A	NP_000123.1:p.Gly89Asp	NC_000023.10:g.154225370C>T	OMIM Allelic Variant:300841.0080	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.207_210delGTTT (p.Phe70Terfs)	2157	F8	Pathogenic	387906434	RCV000010872;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154227809	154227812	NM_000132.3:c.207_210delGTTT	NP_000123.1:p.Phe70Terfs	NC_000023.10:g.154227809_154227812delAAAC	OMIM Allelic Variant:300841.0076	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.199_200delAA (p.Lys67Aspfs)	2157	F8	Pathogenic	387906433	RCV000010871;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154227819	154227820	NM_000132.3:c.199_200delAA	NP_000123.1:p.Lys67Aspfs	NC_000023.10:g.154227819_154227820delTT	OMIM Allelic Variant:300841.0075	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.121G>T (p.Gly41Cys)	2157	F8	Pathogenic	137852379	RCV000010869;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154250707	154250707	NM_000132.3:c.121G>T	NP_000123.1:p.Gly41Cys	NC_000023.10:g.154250707C>A	OMIM Allelic Variant:300841.0073	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.104A>G (p.Tyr35Cys)	2157	F8	Pathogenic	137852476	RCV000011065;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154250724	154250724	NM_000132.3:c.104A>G	NP_000123.1:p.Tyr35Cys	NC_000023.10:g.154250724T>C	OMIM Allelic Variant:300841.0269	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.89A>T (p.Glu30Val)	2157	F8	Pathogenic	137852378	RCV000010867;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154250739	154250739	NM_000132.3:c.89A>T	NP_000123.1:p.Glu30Val	NC_000023.10:g.154250739T>A	OMIM Allelic Variant:300841.0071	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.77T>G (p.Leu26Arg)	2157	F8	Pathogenic	137852377	RCV000010866;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154250751	154250751	NM_000132.3:c.77T>G	NP_000123.1:p.Leu26Arg	NC_000023.10:g.154250751A>C	OMIM Allelic Variant:300841.0070	C0019069 306700 Hereditary factor VIII deficiency disease; C0019069 134500 Hereditary factor VIII deficiency disease
NM_000132.3(F8):c.43C>T (p.Arg15Ter)	2157	F8	Pathogenic	387906432	RCV000010865;	N	MedGen:C0019069,OMIM:134500,OMIM:306700,ORPHA:98878,SNOMED CT:28293008	X	154250785	154250785	NM_000132.3:c.43C>T	NP_000123.1:p.Arg15Ter	NC_000023.10:g.154250785G>A	OMIM Allelic Variant:300841.0069	C0019069 134500 Hereditary factor VIII deficiency disease; C0019069 306700 Hereditary factor VIII deficiency disease