Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.74773969_74776493del	CA2580613902			ClinVar
16	g.74774447_74774465dup	CA8170605	FA2H	c.270+23_270+41dup (n.270+23_270+41dup)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.74774468dup	CA623582334	FA2H	c.270+23dup (n.270+23dup)	gnomAD v2 gnomAD v4
16	g.74774468del	CA623582333	FA2H	c.270+23del (n.270+23del)	gnomAD v2 gnomAD v4
16	g.74774464G>A	CA2634289975	FA2H	c.270+22C>T (n.270+22C>T)	gnomAD v4
16	g.74774464G=	CA2232982424	FA2H	c.270+22C= (n.270+22C=)
16	g.74774464G>T	CA283769876	FA2H	c.270+22C>A (n.270+22C>A)	dbSNP gnomAD v3 gnomAD v4
16	g.74774465G>A	CA723874729	FA2H	c.270+21C>T (n.270+21C>T)	dbSNP gnomAD v3 gnomAD v4
16	g.74774465G=	CA2232982426	FA2H	c.270+21C= (n.270+21C=)
16	g.74774465G>T	CA2576061417	FA2H	c.270+21C>A (n.270+21C>A)	gnomAD v4
16	g.74774466G>A	CA283769883	FA2H	c.270+20C>T (n.270+20C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774466G=	CA2232982427	FA2H	c.270+20C= (n.270+20C=)
16	g.74774466G>T	CA2634289976	FA2H	c.270+20C>A (n.270+20C>A)	gnomAD v4
16	g.74774467G>A	CA723874735	FA2H	c.270+19C>T (n.270+19C>T)	dbSNP gnomAD v4
16	g.74774467G>C	CA2232982430	FA2H	c.270+19C>G (n.270+19C>G)	dbSNP gnomAD v4
16	g.74774467G=	CA2232982429	FA2H	c.270+19C= (n.270+19C=)
16	g.74774467G>T	CA283769886	FA2H	c.270+19C>A (n.270+19C>A)	dbSNP gnomAD v3 gnomAD v4
16	g.74774468G>A	CA8170611	FA2H	c.270+18C>T (n.270+18C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774468G>C	CA2232982432	FA2H	c.270+18C>G (n.270+18C>G)	dbSNP
16	g.74774468G=	CA2232982431	FA2H	c.270+18C= (n.270+18C=)
16	g.74774468G>T	CA2580091976	FA2H	c.270+18C>A (n.270+18C>A)	ClinVar gnomAD v4
16	g.74774469C>A	CA723874742	FA2H	c.270+17G>T (n.270+17G>T)	dbSNP gnomAD v3 gnomAD v4
16	g.74774469C=	CA2232982433	FA2H	c.270+17G= (n.270+17G=)
16	g.74774469C>G	CA8170613	FA2H	c.270+17G>C (n.270+17G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.74774469C>T	CA8170612	FA2H	c.270+17G>A (n.270+17G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774472dup	CA2634289977	FA2H	c.270+17dup (n.270+17dup)	gnomAD v4
16	g.74774472del	CA623582335	FA2H	c.270+17del (n.270+17del)	gnomAD v2 gnomAD v4
16	g.74774470C>A	CA2634289978	FA2H	c.270+16G>T (n.270+16G>T)	gnomAD v4
16	g.74774470C>T	CA2634289979	FA2H	c.270+16G>A (n.270+16G>A)	gnomAD v4
16	g.74774471C>A	CA2634289980	FA2H	c.270+15G>T (n.270+15G>T)	gnomAD v4
16	g.74774471C>T	CA2634289981	FA2H	c.270+15G>A (n.270+15G>A)	gnomAD v4
16	g.74774472C>A	CA2634289982	FA2H	c.270+14G>T (n.270+14G>T)	gnomAD v4
16	g.74774472C=	CA2232982434	FA2H	c.270+14G= (n.270+14G=)
16	g.74774472C>G	CA2634289983	FA2H	c.270+14G>C (n.270+14G>C)	gnomAD v4
16	g.74774472C>T	CA8170614	FA2H	c.270+14G>A (n.270+14G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.74774473G>A	CA283769905	FA2H	c.270+13C>T (n.270+13C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774473G=	CA2232982435	FA2H	c.270+13C= (n.270+13C=)
16	g.74774473G>T	CA2634289984	FA2H	c.270+13C>A (n.270+13C>A)	gnomAD v4
16	g.74774474G>A	CA2634289985	FA2H	c.270+12C>T (n.270+12C>T)	gnomAD v4
16	g.74774474G>C	CA2634289986	FA2H	c.270+12C>G (n.270+12C>G)	gnomAD v4
16	g.74774474G>T	CA2634289987	FA2H	c.270+12C>A (n.270+12C>A)	gnomAD v4
16	g.74774475C>A	CA2576061418	FA2H	c.270+11G>T (n.270+11G>T)	gnomAD v4
16	g.74774475C>T	CA2634289989	FA2H	c.270+11G>A (n.270+11G>A)	gnomAD v4
16	g.74774477del	CA2634289988	FA2H	c.270+11del (n.270+11del)	gnomAD v4
16	g.74774476C>A	CA2634289990	FA2H	c.270+10G>T (n.270+10G>T)	gnomAD v4
16	g.74774476C=	CA2232982436	FA2H	c.270+10G= (n.270+10G=)
16	g.74774476C>T	CA623582336	FA2H	c.270+10G>A (n.270+10G>A)	dbSNP gnomAD v2 gnomAD v4
16	g.74774477C>A	CA2634289991	FA2H	c.270+9G>T (n.270+9G>T)	gnomAD v4
16	g.74774477C>G	CA2741499755	FA2H	c.270+9G>C (n.270+9G>C)
16	g.74774477C>T	CA2634289992	FA2H	c.270+9G>A (n.270+9G>A)	gnomAD v4
16	g.74774478G>A	CA623582337	FA2H	c.270+8C>T (n.270+8C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774478G>C	CA2634289994	FA2H	c.270+8C>G (n.270+8C>G)	gnomAD v4
16	g.74774478G=	CA2232982437	FA2H	c.270+8C= (n.270+8C=)
16	g.74774478G>T	CA2634289993	FA2H	c.270+8C>A (n.270+8C>A)	gnomAD v4
16	g.74774479G>A	CA2634289995	FA2H	c.270+7C>T (n.270+7C>T)	gnomAD v4
16	g.74774479G>T	CA2634289996	FA2H	c.270+7C>A (n.270+7C>A)	gnomAD v4
16	g.74774480C>A	CA2634289997	FA2H	c.270+6G>T (n.270+6G>T)	gnomAD v4
16	g.74774480C>T	CA2634289998	FA2H	c.270+6G>A (n.270+6G>A)	gnomAD v4
16	g.74774481T>C	CA2576061419	FA2H	c.270+5A>G (n.270+5A>G)	gnomAD v4
16	g.74774481T>G	CA2634289999	FA2H	c.270+5A>C (n.270+5A>C)	gnomAD v4
16	g.74774482G>A	CA283769908	FA2H	c.270+4C>T (n.270+4C>T)	dbSNP gnomAD v2 gnomAD v4
16	g.74774482G=	CA2232982438	FA2H	c.270+4C= (n.270+4C=)
16	g.74774482G>T	CA2634290000	FA2H	c.270+4C>A (n.270+4C>A)	gnomAD v4
16	g.74774483T>A	CA2695223753	FA2H	c.270+3A>T (n.270+3A>T)
16	g.74774483T>C	CA2634290001	FA2H	c.270+3A>G (n.270+3A>G)	gnomAD v4
16	g.74774484A=	CA2232982442	FA2H	c.270+2T= (n.270+2T=)
16	g.74774484A>C	CA396768043	FA2H	c.270+2T>G (n.270+2T>G)	dbSNP
16	g.74774484A>G	CA396768044	FA2H	c.270+2T>C (n.270+2T>C)	gnomAD v4
16	g.74774484A>T	CA396768045	FA2H	c.270+2T>A (n.270+2T>A)	gnomAD v4
16	g.74774485C>A	CA396768048	FA2H	c.270+1G>T (n.270+1G>T)	gnomAD v4
16	g.74774485C=	CA2232982447	FA2H	c.270+1G= (n.270+1G=)
16	g.74774485C>G	CA396768047	FA2H	c.270+1G>C (n.270+1G>C)
16	g.74774485C>T	CA396768046	FA2H	c.270+1G>A (n.270+1G>A)	gnomAD v4
16	g.74774486C>A	CA396768049	FA2H	c.270G>T (p.Gln90His)	gnomAD v4
16	g.74774486C>G	CA396768050	FA2H	c.270G>C (p.Gln90His)
16	g.74774486C>T	CA496690468	FA2H	c.270G>A (p.Gln90=)	gnomAD v4
16	g.74774491_74774493dup	CA723874757	FA2H	c.268_270dup (p.Gln90_Gly91insGln)	dbSNP gnomAD v3 gnomAD v4
16	g.74774487T>A	CA396768051	FA2H	c.269A>T (p.Gln90Leu)
16	g.74774487T>C	CA396768052	FA2H	c.269A>G (p.Gln90Arg)	gnomAD v4
16	g.74774487T>G	CA396768053	FA2H	c.269A>C (p.Gln90Pro)
16	g.74774488G>A	CA396768054	FA2H	c.268C>T (p.Gln90Ter)	gnomAD v4
16	g.74774488G>C	CA396768055	FA2H	c.268C>G (p.Gln90Glu)	ClinVar dbSNP gnomAD v4
16	g.74774488G>T	CA396768056	FA2H	c.268C>A (p.Gln90Lys)	gnomAD v4
16	g.74774489C>A	CA396768057	FA2H	c.267G>T (p.Gln89His)	dbSNP gnomAD v3 gnomAD v4
16	g.74774489C=	CA2232982449	FA2H	c.267G= (p.Gln89=)
16	g.74774489C>G	CA396768058	FA2H	c.267G>C (p.Gln89His)
16	g.74774489C>T	CA496690471	FA2H	c.267G>A (p.Gln89=)	gnomAD v4
16	g.74774490T>A	CA396768059	FA2H	c.266A>T (p.Gln89Leu)	ClinVar dbSNP gnomAD v4
16	g.74774490T>C	CA396768060	FA2H	c.266A>G (p.Gln89Arg)	gnomAD v4
16	g.74774490T>G	CA396768061	FA2H	c.266A>C (p.Gln89Pro)	gnomAD v4
16	g.74774490T=	CA2232982455	FA2H	c.266A= (p.Gln89=)
16	g.74774491G>A	CA396768064	FA2H	c.265C>T (p.Gln89Ter)	ClinVar gnomAD v4
16	g.74774491G>C	CA396768062	FA2H	c.265C>G (p.Gln89Glu)
16	g.74774491G>T	CA396768063	FA2H	c.265C>A (p.Gln89Lys)	gnomAD v4
16	g.74774492C>A	CA396768065	FA2H	c.264G>T (p.Glu88Asp)	gnomAD v4
16	g.74774492C=	CA2232982459	FA2H	c.264G= (p.Glu88=)
16	g.74774492C>G	CA396768066	FA2H	c.264G>C (p.Glu88Asp)
16	g.74774492C>T	CA8170615	FA2H	c.264G>A (p.Glu88=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774497_74774510del	CA2634290002	FA2H	c.251_264del (p.Glu84AlafsTer13)	gnomAD v4
16	g.74774493T>A	CA396768067	FA2H	c.263A>T (p.Glu88Val)	dbSNP gnomAD v4
16	g.74774493T>C	CA396768068	FA2H	c.263A>G (p.Glu88Gly)	gnomAD v4
16	g.74774493T>G	CA396768069	FA2H	c.263A>C (p.Glu88Ala)
16	g.74774493T=	CA2232982463	FA2H	c.263A= (p.Glu88=)
16	g.74774494C>A	CA396768070	FA2H	c.262G>T (p.Glu88Ter)	gnomAD v4
16	g.74774494C>G	CA396768071	FA2H	c.262G>C (p.Glu88Gln)
16	g.74774494C>T	CA396768072	FA2H	c.262G>A (p.Glu88Lys)	gnomAD v4
16	g.74774497del	CA2634290003	FA2H	c.262del (p.Glu88SerfsTer11)	gnomAD v4
16	g.74774495C>A	CA496690475	FA2H	c.261G>T (p.Gly87=)	gnomAD v4
16	g.74774495C=	CA2232982466	FA2H	c.261G= (p.Gly87=)
16	g.74774495C>G	CA496690476	FA2H	c.261G>C (p.Gly87=)
16	g.74774495C>T	CA496690474	FA2H	c.261G>A (p.Gly87=)	dbSNP gnomAD v4
16	g.74774496C>A	CA396768073	FA2H	c.260G>T (p.Gly87Val)	gnomAD v4
16	g.74774496C>G	CA396768074	FA2H	c.260G>C (p.Gly87Ala)
16	g.74774496C>T	CA396768075	FA2H	c.260G>A (p.Gly87Glu)	gnomAD v4
16	g.74774497C>A	CA283769913	FA2H	c.259G>T (p.Gly87Trp)	dbSNP gnomAD v3 gnomAD v4
16	g.74774497C=	CA2232982470	FA2H	c.259G= (p.Gly87=)
16	g.74774497C>G	CA396768077	FA2H	c.259G>C (p.Gly87Arg)
16	g.74774497C>T	CA396768076	FA2H	c.259G>A (p.Gly87Arg)	dbSNP gnomAD v4
16	g.74774499_74774500del	CA2634290004	FA2H	c.258_259del (p.Glu88AlafsTer13)	gnomAD v4
16	g.74774498G>A	CA496690480	FA2H	c.258C>T (p.Arg86=)	dbSNP gnomAD v3 gnomAD v4
16	g.74774498G>C	CA496690478	FA2H	c.258C>G (p.Arg86=)
16	g.74774498G=	CA2232982473	FA2H	c.258C= (p.Arg86=)
16	g.74774498G>T	CA496690479	FA2H	c.258C>A (p.Arg86=)	gnomAD v4
16	g.74774499C>A	CA396768078	FA2H	c.257G>T (p.Arg86Leu)	gnomAD v4
16	g.74774499C=	CA2232982475	FA2H	c.257G= (p.Arg86=)
16	g.74774499C>G	CA396768079	FA2H	c.257G>C (p.Arg86Pro)
16	g.74774499C>T	CA396768080	FA2H	c.257G>A (p.Arg86His)	dbSNP gnomAD v3 gnomAD v4
16	g.74774500G>A	CA396768081	FA2H	c.256C>T (p.Arg86Cys)	dbSNP gnomAD v2 gnomAD v4
16	g.74774500G>C	CA396768082	FA2H	c.256C>G (p.Arg86Gly)
16	g.74774500G=	CA2232982481	FA2H	c.256C= (p.Arg86=)
16	g.74774500G>T	CA396768083	FA2H	c.256C>A (p.Arg86Ser)	gnomAD v4
16	g.74774501G>A	CA496690484	FA2H	c.255C>T (p.Leu85=)	dbSNP gnomAD v2 gnomAD v4
16	g.74774501G>C	CA496690486	FA2H	c.255C>G (p.Leu85=)
16	g.74774501G=	CA2232982482	FA2H	c.255C= (p.Leu85=)
16	g.74774501G>T	CA496690485	FA2H	c.255C>A (p.Leu85=)	gnomAD v4
16	g.74774502A>C	CA396768086	FA2H	c.254T>G (p.Leu85Arg)
16	g.74774502A>G	CA396768084	FA2H	c.254T>C (p.Leu85Pro)	gnomAD v4
16	g.74774502A>T	CA396768085	FA2H	c.254T>A (p.Leu85His)	gnomAD v4
16	g.74774503G>A	CA396768087	FA2H	c.253C>T (p.Leu85Phe)	gnomAD v4
16	g.74774503G>C	CA396768088	FA2H	c.253C>G (p.Leu85Val)
16	g.74774503G>T	CA396768089	FA2H	c.253C>A (p.Leu85Ile)	gnomAD v4
16	g.74774504C>A	CA396768090	FA2H	c.252G>T (p.Glu84Asp)	gnomAD v4
16	g.74774504C=	CA2232982484	FA2H	c.252G= (p.Glu84=)
16	g.74774504C>G	CA396768091	FA2H	c.252G>C (p.Glu84Asp)
16	g.74774504C>T	CA496690488	FA2H	c.252G>A (p.Glu84=)	dbSNP gnomAD v2 gnomAD v4
16	g.74774507_74774508del	CA2634290005	FA2H	c.251_252del (p.Glu84AlafsTer17)	gnomAD v4
16	g.74774505T>A	CA396768094	FA2H	c.251A>T (p.Glu84Val)	gnomAD v4
16	g.74774505T>C	CA396768092	FA2H	c.251A>G (p.Glu84Gly)	dbSNP gnomAD v2 gnomAD v4
16	g.74774505T>G	CA396768093	FA2H	c.251A>C (p.Glu84Ala)	gnomAD v4
16	g.74774505T=	CA2232982487	FA2H	c.251A= (p.Glu84=)
16	g.74774506C>A	CA396768095	FA2H	c.250G>T (p.Glu84Ter)	gnomAD v4
16	g.74774506C=	CA2232982490	FA2H	c.250G= (p.Glu84=)
16	g.74774506C>G	CA396768096	FA2H	c.250G>C (p.Glu84Gln)
16	g.74774506C>T	CA396768097	FA2H	c.250G>A (p.Glu84Lys)	dbSNP gnomAD v2 gnomAD v4
16	g.74774507T>A	CA496690490	FA2H	c.249A>T (p.Gly83=)	gnomAD v4
16	g.74774507T>C	CA496690491	FA2H	c.249A>G (p.Gly83=)	gnomAD v4
16	g.74774507T>G	CA496690492	FA2H	c.249A>C (p.Gly83=)
16	g.74774508C>A	CA396768098	FA2H	c.248G>T (p.Gly83Val)	gnomAD v4
16	g.74774508C=	CA2232982493	FA2H	c.248G= (p.Gly83=)
16	g.74774508C>G	CA396768099	FA2H	c.248G>C (p.Gly83Ala)	dbSNP
16	g.74774508C>T	CA396768100	FA2H	c.248G>A (p.Gly83Glu)	gnomAD v4
16	g.74774510del	CA2634290006	FA2H	c.248del (p.Gly83GlufsTer16)	gnomAD v4
16	g.74774509C>A	CA396768101	FA2H	c.247G>T (p.Gly83Ter)	gnomAD v4
16	g.74774509C=	CA2232982497	FA2H	c.247G= (p.Gly83=)
16	g.74774509C>G	CA396768102	FA2H	c.247G>C (p.Gly83Arg)
16	g.74774509C>T	CA396768103	FA2H	c.247G>A (p.Gly83Arg)	dbSNP gnomAD v2 gnomAD v4
16	g.74774510C>A	CA496690494	FA2H	c.246G>T (p.Val82=)	gnomAD v4
16	g.74774510C=	CA2232982498	FA2H	c.246G= (p.Val82=)
16	g.74774510C>G	CA496690495	FA2H	c.246G>C (p.Val82=)
16	g.74774510C>T	CA8170616	FA2H	c.246G>A (p.Val82=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774511del	CA2807632664	FA2H	c.245del (p.Val82GlyfsTer17)
16	g.74774511A>C	CA396768104	FA2H	c.245T>G (p.Val82Gly)
16	g.74774511A>G	CA396768105	FA2H	c.245T>C (p.Val82Ala)	gnomAD v4
16	g.74774511A>T	CA396768106	FA2H	c.245T>A (p.Val82Glu)	gnomAD v4
16	g.74774512C>A	CA396768108	FA2H	c.244G>T (p.Val82Leu)	dbSNP gnomAD v3 gnomAD v4
16	g.74774512C=	CA2232982504	FA2H	c.244G= (p.Val82=)
16	g.74774512C>G	CA283769914	FA2H	c.244G>C (p.Val82Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.74774512C>T	CA396768107	FA2H	c.244G>A (p.Val82Met)	dbSNP gnomAD v2 gnomAD v4
16	g.74774513G>A	CA496690497	FA2H	c.243C>T (p.Tyr81=)	dbSNP gnomAD v3 gnomAD v4
16	g.74774513G>C	CA396768109	FA2H	c.243C>G (p.Tyr81Ter)
16	g.74774513G=	CA2232982507	FA2H	c.243C= (p.Tyr81=)
16	g.74774513G>T	CA396768110	FA2H	c.243C>A (p.Tyr81Ter)	gnomAD v4
16	g.74774514T>A	CA396768111	FA2H	c.242A>T (p.Tyr81Phe)
16	g.74774514T>C	CA396768112	FA2H	c.242A>G (p.Tyr81Cys)	gnomAD v4
16	g.74774514T>G	CA396768113	FA2H	c.242A>C (p.Tyr81Ser)	gnomAD v4
16	g.74774515A>C	CA396768114	FA2H	c.241T>G (p.Tyr81Asp)
16	g.74774515A>G	CA396768115	FA2H	c.241T>C (p.Tyr81His)	gnomAD v4
16	g.74774515A>T	CA396768116	FA2H	c.241T>A (p.Tyr81Asn)
16	g.74774516G>A	CA496690499	FA2H	c.240C>T (p.Tyr80=)	gnomAD v4
16	g.74774516G>C	CA396768117	FA2H	c.240C>G (p.Tyr80Ter)	ClinVar dbSNP
16	g.74774516G>T	CA396768118	FA2H	c.240C>A (p.Tyr80Ter)	gnomAD v4
16	g.74774517T>A	CA396768119	FA2H	c.239A>T (p.Tyr80Phe)
16	g.74774517T>C	CA396768120	FA2H	c.239A>G (p.Tyr80Cys)	gnomAD v4
16	g.74774517T>G	CA396768121	FA2H	c.239A>C (p.Tyr80Ser)
16	g.74774518A>C	CA396768124	FA2H	c.238T>G (p.Tyr80Asp)
16	g.74774518A>G	CA396768123	FA2H	c.238T>C (p.Tyr80His)	gnomAD v4
16	g.74774518A>T	CA396768122	FA2H	c.238T>A (p.Tyr80Asn)	gnomAD v4
16	g.74774519C>A	CA396768125	FA2H	c.237G>T (p.Gln79His)	gnomAD v4
16	g.74774519C=	CA2232982510	FA2H	c.237G= (p.Gln79=)
16	g.74774519C>G	CA396768126	FA2H	c.237G>C (p.Gln79His)
16	g.74774519C>T	CA496690503	FA2H	c.237G>A (p.Gln79=)	dbSNP gnomAD v4
16	g.74774520T>A	CA396768127	FA2H	c.236A>T (p.Gln79Leu)
16	g.74774520T>C	CA396768128	FA2H	c.236A>G (p.Gln79Arg)
16	g.74774520T>G	CA396768129	FA2H	c.236A>C (p.Gln79Pro)
16	g.74774521G>A	CA396768130	FA2H	c.235C>T (p.Gln79Ter)	dbSNP gnomAD v4
16	g.74774521G>C	CA396768131	FA2H	c.235C>G (p.Gln79Glu)
16	g.74774521G>T	CA396768132	FA2H	c.235C>A (p.Gln79Lys)	gnomAD v4
16	g.74774522C>A	CA396768133	FA2H	c.234G>T (p.Glu78Asp)	dbSNP gnomAD v4
16	g.74774522C>G	CA396768134	FA2H	c.234G>C (p.Glu78Asp)	gnomAD v4
16	g.74774522C>T	CA496690507	FA2H	c.234G>A (p.Glu78=)	gnomAD v4
16	g.74774523T>A	CA396768135	FA2H	c.233A>T (p.Glu78Val)	gnomAD v4
16	g.74774523T>C	CA396768136	FA2H	c.233A>G (p.Glu78Gly)	gnomAD v4
16	g.74774523T>G	CA396768137	FA2H	c.233A>C (p.Glu78Ala)
16	g.74774524C>A	CA396768138	FA2H	c.232G>T (p.Glu78Ter)	gnomAD v4
16	g.74774524C=	CA2232982515	FA2H	c.232G= (p.Glu78=)
16	g.74774524C>G	CA396768139	FA2H	c.232G>C (p.Glu78Gln)
16	g.74774524C>T	CA8170617	FA2H	c.232G>A (p.Glu78Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774525del	CA2634290007	FA2H	c.232del (p.Glu78SerfsTer21)	gnomAD v4
16	g.74774525C>A	CA496690699	FA2H	c.231G>T (p.Leu77=)	gnomAD v4
16	g.74774525C>G	CA496690700	FA2H	c.231G>C (p.Leu77=)
16	g.74774525C>T	CA496690701	FA2H	c.231G>A (p.Leu77=)	gnomAD v4
16	g.74774526A>C	CA396768140	FA2H	c.230T>G (p.Leu77Arg)
16	g.74774526A>G	CA396768142	FA2H	c.230T>C (p.Leu77Pro)	gnomAD v4
16	g.74774526A>T	CA396768141	FA2H	c.230T>A (p.Leu77Gln)
16	g.74774527G>A	CA152807	FA2H	c.229C>T (p.Leu77=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774527G>C	CA396768143	FA2H	c.229C>G (p.Leu77Val)
16	g.74774527G=	CA2232982517	FA2H	c.229C= (p.Leu77=)
16	g.74774527G>T	CA396768144	FA2H	c.229C>A (p.Leu77Met)	gnomAD v4
16	g.74774528C>A	CA396768145	FA2H	c.228G>T (p.Trp76Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774528C=	CA2232982519	FA2H	c.228G= (p.Trp76=)
16	g.74774528C>G	CA396768146	FA2H	c.228G>C (p.Trp76Cys)
16	g.74774528C>T	CA396768147	FA2H	c.228G>A (p.Trp76Ter)	gnomAD v4
16	g.74774529C>A	CA396768148	FA2H	c.227G>T (p.Trp76Leu)	dbSNP gnomAD v3 gnomAD v4
16	g.74774529C=	CA2232982523	FA2H	c.227G= (p.Trp76=)
16	g.74774529C>G	CA396768149	FA2H	c.227G>C (p.Trp76Ser)
16	g.74774529C>T	CA396768150	FA2H	c.227G>A (p.Trp76Ter)	ClinVar dbSNP gnomAD v4
16	g.74774530A=	CA2232982524	FA2H	c.226T= (p.Trp76=)
16	g.74774530A>C	CA396768151	FA2H	c.226T>G (p.Trp76Gly)	dbSNP gnomAD v4
16	g.74774530A>G	CA396768152	FA2H	c.226T>C (p.Trp76Arg)	gnomAD v4
16	g.74774530A>T	CA396768153	FA2H	c.226T>A (p.Trp76Arg)
16	g.74774531G>A	CA496690704	FA2H	c.225C>T (p.Arg75=)	gnomAD v4
16	g.74774531G>C	CA496690706	FA2H	c.225C>G (p.Arg75=)
16	g.74774531G>T	CA496690707	FA2H	c.225C>A (p.Arg75=)	gnomAD v4
16	g.74774532C>A	CA396768154	FA2H	c.224G>T (p.Arg75Leu)	gnomAD v4
16	g.74774532C>G	CA396768156	FA2H	c.224G>C (p.Arg75Pro)
16	g.74774532C>T	CA396768155	FA2H	c.224G>A (p.Arg75His)	gnomAD v4
16	g.74774533G>A	CA396768157	FA2H	c.223C>T (p.Arg75Cys)	gnomAD v4
16	g.74774533G>C	CA396768158	FA2H	c.223C>G (p.Arg75Gly)	dbSNP gnomAD v4
16	g.74774533G=	CA2232982525	FA2H	c.223C= (p.Arg75=)
16	g.74774533G>T	CA396768159	FA2H	c.223C>A (p.Arg75Ser)	dbSNP gnomAD v2 gnomAD v4
16	g.74774534G>A	CA496690709	FA2H	c.222C>T (p.Arg74=)	gnomAD v4
16	g.74774534G>C	CA496690710	FA2H	c.222C>G (p.Arg74=)
16	g.74774534G>T	CA496690712	FA2H	c.222C>A (p.Arg74=)	gnomAD v4
16	g.74774535C>A	CA396768160	FA2H	c.221G>T (p.Arg74Leu)	gnomAD v4
16	g.74774535C>G	CA396768161	FA2H	c.221G>C (p.Arg74Pro)	gnomAD v4
16	g.74774535C>T	CA396768162	FA2H	c.221G>A (p.Arg74His)	gnomAD v4
16	g.74774536G>A	CA396768163	FA2H	c.220C>T (p.Arg74Cys)	gnomAD v4
16	g.74774536G>C	CA396768164	FA2H	c.220C>G (p.Arg74Gly)	dbSNP gnomAD v4
16	g.74774536G=	CA2232982527	FA2H	c.220C= (p.Arg74=)
16	g.74774536G>T	CA396768165	FA2H	c.220C>A (p.Arg74Ser)	gnomAD v4
16	g.74774537C>A	CA496690714	FA2H	c.219G>T (p.Ala73=)	gnomAD v4
16	g.74774537C>G	CA496690715	FA2H	c.219G>C (p.Ala73=)
16	g.74774537C>T	CA496690718	FA2H	c.219G>A (p.Ala73=)	gnomAD v4
16	g.74774538G>A	CA396768167	FA2H	c.218C>T (p.Ala73Val)	gnomAD v4
16	g.74774538G>C	CA396768168	FA2H	c.218C>G (p.Ala73Gly)	gnomAD v4
16	g.74774538G>T	CA396768166	FA2H	c.218C>A (p.Ala73Glu)	gnomAD v4
16	g.74774539C>A	CA396768169	FA2H	c.217G>T (p.Ala73Ser)	gnomAD v4
16	g.74774539C>G	CA396768170	FA2H	c.217G>C (p.Ala73Pro)
16	g.74774539C>T	CA396768171	FA2H	c.217G>A (p.Ala73Thr)	gnomAD v4
16	g.74774540G>A	CA496690719	FA2H	c.216C>T (p.Asn72=)	ClinVar gnomAD v4
16	g.74774540G>C	CA396768172	FA2H	c.216C>G (p.Asn72Lys)	gnomAD v4
16	g.74774540G>T	CA396768173	FA2H	c.216C>A (p.Asn72Lys)	gnomAD v4
16	g.74774541T>A	CA396768176	FA2H	c.215A>T (p.Asn72Ile)
16	g.74774541T>C	CA396768175	FA2H	c.215A>G (p.Asn72Ser)	gnomAD v4
16	g.74774541T>G	CA396768174	FA2H	c.215A>C (p.Asn72Thr)
16	g.74774542T>A	CA396768177	FA2H	c.214A>T (p.Asn72Tyr)	gnomAD v4
16	g.74774542T>C	CA396768178	FA2H	c.214A>G (p.Asn72Asp)	gnomAD v4
16	g.74774542T>G	CA396768179	FA2H	c.214A>C (p.Asn72His)
16	g.74774543G>A	CA496690724	FA2H	c.213C>T (p.Ala71=)	gnomAD v4
16	g.74774543G>C	CA496690725	FA2H	c.213C>G (p.Ala71=)
16	g.74774543G>T	CA496690726	FA2H	c.213C>A (p.Ala71=)	gnomAD v4
16	g.74774544G>A	CA396768180	FA2H	c.212C>T (p.Ala71Val)	gnomAD v4
16	g.74774544G>C	CA396768181	FA2H	c.212C>G (p.Ala71Gly)	gnomAD v4
16	g.74774544G=	CA2232982533	FA2H	c.212C= (p.Ala71=)
16	g.74774544G>T	CA396768182	FA2H	c.212C>A (p.Ala71Asp)	dbSNP gnomAD v2 gnomAD v4
16	g.74774545C>A	CA396768183	FA2H	c.211G>T (p.Ala71Ser)	gnomAD v4
16	g.74774545C=	CA2232982534	FA2H	c.211G= (p.Ala71=)
16	g.74774545C>G	CA396768185	FA2H	c.211G>C (p.Ala71Pro)
16	g.74774545C>T	CA396768184	FA2H	c.211G>A (p.Ala71Thr)	dbSNP gnomAD v2 gnomAD v4
16	g.74774546C>A	CA496690728	FA2H	c.210G>T (p.Ser70=)	gnomAD v4
16	g.74774546C>G	CA496690730	FA2H	c.210G>C (p.Ser70=)	gnomAD v4
16	g.74774546C>T	CA496690732	FA2H	c.210G>A (p.Ser70=)	dbSNP gnomAD v4
16	g.74774547G>A	CA396768186	FA2H	c.209C>T (p.Ser70Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774547G>C	CA396768187	FA2H	c.209C>G (p.Ser70Trp)	gnomAD v4
16	g.74774547G=	CA2232982537	FA2H	c.209C= (p.Ser70=)
16	g.74774547G>T	CA396768188	FA2H	c.209C>A (p.Ser70Ter)	gnomAD v4
16	g.74774548A>C	CA396768189	FA2H	c.208T>G (p.Ser70Ala)
16	g.74774548A>G	CA396768190	FA2H	c.208T>C (p.Ser70Pro)	gnomAD v4
16	g.74774548A>T	CA396768191	FA2H	c.208T>A (p.Ser70Thr)	gnomAD v4
16	g.74774549G>A	CA496690737	FA2H	c.207C>T (p.His69=)	gnomAD v4
16	g.74774549G>C	CA283769920	FA2H	c.207C>G (p.His69Gln)	ClinVar dbSNP gnomAD v4
16	g.74774549G=	CA2232982539	FA2H	c.207C= (p.His69=)
16	g.74774549G>T	CA396768192	FA2H	c.207C>A (p.His69Gln)	gnomAD v4
16	g.74774550T>A	CA396768193	FA2H	c.206A>T (p.His69Leu)
16	g.74774550T>C	CA396768194	FA2H	c.206A>G (p.His69Arg)	gnomAD v4
16	g.74774550T>G	CA396768195	FA2H	c.206A>C (p.His69Pro)
16	g.74774551G>A	CA16043885	FA2H	c.205C>T (p.His69Tyr)	ClinVar dbSNP gnomAD v4
16	g.74774551G>C	CA396768197	FA2H	c.205C>G (p.His69Asp)
16	g.74774551G=	CA2232982545	FA2H	c.205C= (p.His69=)
16	g.74774551G>T	CA396768196	FA2H	c.205C>A (p.His69Asn)	dbSNP gnomAD v2 gnomAD v4
16	g.74774552C>A	CA396768198	FA2H	c.204G>T (p.Arg68Ser)	gnomAD v4
16	g.74774552C>G	CA396768199	FA2H	c.204G>C (p.Arg68Ser)
16	g.74774552C>T	CA496690741	FA2H	c.204G>A (p.Arg68=)	gnomAD v4
16	g.74774553C>A	CA396768200	FA2H	c.203G>T (p.Arg68Met)	gnomAD v4
16	g.74774553C>G	CA396768202	FA2H	c.203G>C (p.Arg68Thr)
16	g.74774553C>T	CA396768201	FA2H	c.203G>A (p.Arg68Lys)	gnomAD v4
16	g.74774553_74774556delinsCTGT	CA2232982548	FA2H	c.200_203delinsACAG (p.His67=)
16	g.74774554T>A	CA396768203	FA2H	c.202A>T (p.Arg68Trp)	gnomAD v4
16	g.74774554T>C	CA8170618	FA2H	c.202A>G (p.Arg68Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.74774554T>G	CA496690743	FA2H	c.202A>C (p.Arg68=)	gnomAD v4
16	g.74774554T=	CA2232982549	FA2H	c.202A= (p.Arg68=)
16	g.74774554_74774556del	CA623582352	FA2H	c.200_202del (p.His67del)	dbSNP gnomAD v2 gnomAD v4
16	g.74774555G>A	CA496690744	FA2H	c.201C>T (p.His67=)	dbSNP gnomAD v4
16	g.74774555G>C	CA396768204	FA2H	c.201C>G (p.His67Gln)	ClinVar gnomAD v4
16	g.74774555G=	CA2232982551	FA2H	c.201C= (p.His67=)
16	g.74774555G>T	CA396768205	FA2H	c.201C>A (p.His67Gln)	gnomAD v4
16	g.74774556T>A	CA396768206	FA2H	c.200A>T (p.His67Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774556T>C	CA396768207	FA2H	c.200A>G (p.His67Arg)	gnomAD v4
16	g.74774556T>G	CA396768208	FA2H	c.200A>C (p.His67Pro)
16	g.74774556T=	CA2232982552	FA2H	c.200A= (p.His67=)
16	g.74774556_74774559delinsTGCG	CA2232982553	FA2H	c.197_200delinsCGCA (p.Pro66=)
16	g.74774557G>A	CA396768209	FA2H	c.199C>T (p.His67Tyr)
16	g.74774557G>C	CA396768210	FA2H	c.199C>G (p.His67Asp)
16	g.74774557G>T	CA396768211	FA2H	c.199C>A (p.His67Asn)	gnomAD v4
16	g.74774562_74774564del	CA979036928	FA2H	c.197_199del (p.Pro66del)	dbSNP gnomAD v3 gnomAD v4
16	g.74774558del	CA2634290008	FA2H	c.198del (p.His67ThrfsTer?)	gnomAD v4
16	g.74774558C>A	CA496690748	FA2H	c.198G>T (p.Pro66=)	gnomAD v4
16	g.74774558C=	CA2232982561	FA2H	c.198G= (p.Pro66=)
16	g.74774558C>G	CA8170619	FA2H	c.198G>C (p.Pro66=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774558C>T	CA496690753	FA2H	c.198G>A (p.Pro66=)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.74774559G>A	CA396768212	FA2H	c.197C>T (p.Pro66Leu)	dbSNP gnomAD v3 gnomAD v4
16	g.74774559G>C	CA396768213	FA2H	c.197C>G (p.Pro66Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774559G=	CA2232982563	FA2H	c.197C= (p.Pro66=)
16	g.74774559G>T	CA396768214	FA2H	c.197C>A (p.Pro66Gln)	gnomAD v4
16	g.74774560G>A	CA396768215	FA2H	c.196C>T (p.Pro66Ser)	dbSNP gnomAD v2 gnomAD v4
16	g.74774560G>C	CA396768216	FA2H	c.196C>G (p.Pro66Ala)
16	g.74774560G=	CA2232982564	FA2H	c.196C= (p.Pro66=)
16	g.74774560G>T	CA396768217	FA2H	c.196C>A (p.Pro66Thr)	gnomAD v4
16	g.74774561del	CA2634290009	FA2H	c.195del (p.Pro66ArgfsTer?)	gnomAD v4
16	g.74774561C>A	CA496690755	FA2H	c.195G>T (p.Pro65=)	gnomAD v4
16	g.74774561C=	CA2232982565	FA2H	c.195G= (p.Pro65=)
16	g.74774561C>G	CA496690756	FA2H	c.195G>C (p.Pro65=)
16	g.74774561C>T	CA8170620	FA2H	c.195G>A (p.Pro65=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16	g.74774562G>A	CA396768218	FA2H	c.194C>T (p.Pro65Leu)	gnomAD v4
16	g.74774562G>C	CA396768219	FA2H	c.194C>G (p.Pro65Arg)	dbSNP gnomAD v4
16	g.74774562G=	CA2232982566	FA2H	c.194C= (p.Pro65=)
16	g.74774562G>T	CA396768220	FA2H	c.194C>A (p.Pro65Gln)	gnomAD v4
16	g.74774563G>A	CA396768221	FA2H	c.193C>T (p.Pro65Ser)	gnomAD v4
16	g.74774563G>C	CA396768222	FA2H	c.193C>G (p.Pro65Ala)
16	g.74774563G>T	CA396768223	FA2H	c.193C>A (p.Pro65Thr)	gnomAD v4
16	g.74774564C>A	CA496690762	FA2H	c.192G>T (p.Gly64=)	gnomAD v4
16	g.74774564C>G	CA496690764	FA2H	c.192G>C (p.Gly64=)
16	g.74774564C>T	CA496690766	FA2H	c.192G>A (p.Gly64=)	gnomAD v4

Number of alleles fetched