Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63972473_63972570del	CA627150415	SCN4A	c.273+1_274-1del	gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972550del	CA2639312637	SCN4A	c.273+20del (n.273+20del)	gnomAD v4
17	g.63972550A=	CA2270175908	SCN4A	c.273+19T= (n.273+19T=)
17	g.63972550A>C	CA8710231	SCN4A	c.273+19T>G (n.273+19T>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972550A>G	CA2639312646	SCN4A	c.273+19T>C (n.273+19T>C)	gnomAD v4
17	g.63972551G>T	CA656835729	SCN4A	c.273+18C>A (n.273+18C>A)	gnomAD v4 COSMIC
17	g.63972552C>A	CA8710233	SCN4A	c.273+17G>T (n.273+17G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972552C=	CA2270175909	SCN4A	c.273+17G= (n.273+17G=)
17	g.63972552C>G	CA8710232	SCN4A	c.273+17G>C (n.273+17G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972552C>T	CA8710234	SCN4A	c.273+17G>A (n.273+17G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972553C=	CA2270175910	SCN4A	c.273+16G= (n.273+16G=)
17	g.63972553C>T	CA8710235	SCN4A	c.273+16G>A (n.273+16G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63972555T>C	CA2639312665	SCN4A	c.273+14A>G (n.273+14A>G)	gnomAD v4
17	g.63972556C>A	CA2639312666	SCN4A	c.273+13G>T (n.273+13G>T)	gnomAD v4
17	g.63972557C>A	CA2639312667	SCN4A	c.273+12G>T (n.273+12G>T)	gnomAD v4
17	g.63972557C=	CA2270175911	SCN4A	c.273+12G= (n.273+12G=)
17	g.63972557C>T	CA2270175912	SCN4A	c.273+12G>A (n.273+12G>A)	dbSNP
17	g.63972558C>A	CA2639312668	SCN4A	c.273+11G>T (n.273+11G>T)	gnomAD v4
17	g.63972558C>T	CA2639312669	SCN4A	c.273+11G>A (n.273+11G>A)	gnomAD v4
17	g.63972559A=	CA2270175913	SCN4A	c.273+10T= (n.273+10T=)
17	g.63972559A>T	CA8710236	SCN4A	c.273+10T>A (n.273+10T>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972560G>A	CA2639312672	SCN4A	c.273+9C>T (n.273+9C>T)	gnomAD v4
17	g.63972561G>A	CA2639312673	SCN4A	c.273+8C>T (n.273+8C>T)	gnomAD v4
17	g.63972561G=	CA2270175914	SCN4A	c.273+8C= (n.273+8C=)
17	g.63972561G>T	CA774008786	SCN4A	c.273+8C>A (n.273+8C>A)	ClinVar dbSNP
17	g.63972562C>A	CA2639312674	SCN4A	c.273+7G>T (n.273+7G>T)	gnomAD v4
17	g.63972562C=	CA2270175915	SCN4A	c.273+7G= (n.273+7G=)
17	g.63972562C>T	CA8710237	SCN4A	c.273+7G>A (n.273+7G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63972564del	CA2576356272	SCN4A	c.273+7del (n.273+7del)
17	g.63972567A>C	CA400640102	SCN4A	c.273+2T>G (n.273+2T>G)
17	g.63972567A>G	CA400640103	SCN4A	c.273+2T>C (n.273+2T>C)	gnomAD v4
17	g.63972567A>T	CA400640104	SCN4A	c.273+2T>A (n.273+2T>A)
17	g.63972568C>A	CA8710238	SCN4A	c.273+1G>T (n.273+1G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972568C=	CA2270175916	SCN4A	c.273+1G= (n.273+1G=)
17	g.63972568C>G	CA400640105	SCN4A	c.273+1G>C (n.273+1G>C)
17	g.63972568C>T	CA400640106	SCN4A	c.273+1G>A (n.273+1G>A)	gnomAD v4
17	g.63972568_63972571delinsCCTT	CA2270175917	SCN4A	c.271_273+1delinsAAGG
17	g.63972569C>A	CA400640107	SCN4A	c.273G>T (p.Lys91Asn)	gnomAD v4
17	g.63972569C>G	CA400640108	SCN4A	c.273G>C (p.Lys91Asn)
17	g.63972569C>T	CA501348991	SCN4A	c.273G>A (p.Lys91=)	gnomAD v4
17	g.63972572_63972574del	CA292972882	SCN4A	c.271_273del (p.Lys91del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972570T>A	CA400640109	SCN4A	c.272A>T (p.Lys91Met)
17	g.63972570T>C	CA400640110	SCN4A	c.272A>G (p.Lys91Arg)
17	g.63972570T>G	CA400640111	SCN4A	c.272A>C (p.Lys91Thr)
17	g.63972571T>A	CA400640114	SCN4A	c.271A>T (p.Lys91Ter)
17	g.63972571T>C	CA400640112	SCN4A	c.271A>G (p.Lys91Glu)
17	g.63972571T>G	CA400640113	SCN4A	c.271A>C (p.Lys91Gln)
17	g.63972572C>A	CA400640115	SCN4A	c.270G>T (p.Lys90Asn)	dbSNP gnomAD v4
17	g.63972572C=	CA2270175919	SCN4A	c.270G= (p.Lys90=)
17	g.63972572C>G	CA400640116	SCN4A	c.270G>C (p.Lys90Asn)
17	g.63972572C>T	CA501348992	SCN4A	c.270G>A (p.Lys90=)
17	g.63972572_63972574delinsCTT	CA2270175918	SCN4A	c.268_270delinsAAG (p.Lys90=)
17	g.63972573T>A	CA400640117	SCN4A	c.269A>T (p.Lys90Met)
17	g.63972573T>C	CA400640118	SCN4A	c.269A>G (p.Lys90Arg)
17	g.63972573T>G	CA400640119	SCN4A	c.269A>C (p.Lys90Thr)
17	g.63972573_63972574del	CA891863036	SCN4A	c.268_269del (p.Lys90GlufsTer?)	ClinVar dbSNP
17	g.63972574T>A	CA400640120	SCN4A	c.268A>T (p.Lys90Ter)
17	g.63972574T>C	CA400640121	SCN4A	c.268A>G (p.Lys90Glu)	gnomAD v4
17	g.63972574T>G	CA400640122	SCN4A	c.268A>C (p.Lys90Gln)
17	g.63972575A>C	CA400640123	SCN4A	c.267T>G (p.Asn89Lys)
17	g.63972575A>G	CA501348993	SCN4A	c.267T>C (p.Asn89=)	gnomAD v4
17	g.63972575A>T	CA400640124	SCN4A	c.267T>A (p.Asn89Lys)
17	g.63972576T>A	CA400640125	SCN4A	c.266A>T (p.Asn89Ile)
17	g.63972576T>C	CA400640126	SCN4A	c.266A>G (p.Asn89Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63972576T>G	CA400640127	SCN4A	c.266A>C (p.Asn89Thr)
17	g.63972576T=	CA2270175920	SCN4A	c.266A= (p.Asn89=)
17	g.63972577T>A	CA400640130	SCN4A	c.265A>T (p.Asn89Tyr)
17	g.63972577T>C	CA400640129	SCN4A	c.265A>G (p.Asn89Asp)	COSMIC
17	g.63972577T>G	CA400640128	SCN4A	c.265A>C (p.Asn89His)
17	g.63972578G>A	CA501348994	SCN4A	c.264C>T (p.Ser88=)
17	g.63972578G>C	CA400640131	SCN4A	c.264C>G (p.Ser88Arg)
17	g.63972578G>T	CA400640132	SCN4A	c.264C>A (p.Ser88Arg)	gnomAD v4
17	g.63972579C>A	CA400640133	SCN4A	c.263G>T (p.Ser88Ile)
17	g.63972579C>G	CA400640134	SCN4A	c.263G>C (p.Ser88Thr)
17	g.63972579C>T	CA400640135	SCN4A	c.263G>A (p.Ser88Asn)
17	g.63972580T>A	CA400640136	SCN4A	c.262A>T (p.Ser88Cys)
17	g.63972580T>C	CA400640137	SCN4A	c.262A>G (p.Ser88Gly)
17	g.63972580T>G	CA400640138	SCN4A	c.262A>C (p.Ser88Arg)
17	g.63972581G>A	CA501348995	SCN4A	c.261C>T (p.Tyr87=)
17	g.63972581G>C	CA400640139	SCN4A	c.261C>G (p.Tyr87Ter)	dbSNP gnomAD v2 gnomAD v4
17	g.63972581G=	CA2270175921	SCN4A	c.261C= (p.Tyr87=)
17	g.63972581G>T	CA400640140	SCN4A	c.261C>A (p.Tyr87Ter)
17	g.63972585_63972587del	CA2576356273	SCN4A	c.259_261del (p.Tyr87del)	gnomAD v4
17	g.63972582T>A	CA400640141	SCN4A	c.260A>T (p.Tyr87Phe)	gnomAD v4
17	g.63972582T>C	CA400640142	SCN4A	c.260A>G (p.Tyr87Cys)
17	g.63972582T>G	CA400640143	SCN4A	c.260A>C (p.Tyr87Ser)
17	g.63972583A=	CA2270175922	SCN4A	c.259T= (p.Tyr87=)
17	g.63972583A>C	CA400640145	SCN4A	c.259T>G (p.Tyr87Asp)
17	g.63972583A>G	CA8710239	SCN4A	c.259T>C (p.Tyr87His)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63972583A>T	CA400640144	SCN4A	c.259T>A (p.Tyr87Asn)
17	g.63972584G>A	CA8710240	SCN4A	c.258C>T (p.Tyr86=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63972584G>C	CA400640147	SCN4A	c.258C>G (p.Tyr86Ter)
17	g.63972584G=	CA2270175923	SCN4A	c.258C= (p.Tyr86=)
17	g.63972584G>T	CA400640146	SCN4A	c.258C>A (p.Tyr86Ter)
17	g.63972585T>A	CA400640148	SCN4A	c.257A>T (p.Tyr86Phe)
17	g.63972585T>C	CA8710241	SCN4A	c.257A>G (p.Tyr86Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972585T>G	CA400640149	SCN4A	c.257A>C (p.Tyr86Ser)
17	g.63972585T=	CA2270175924	SCN4A	c.257A= (p.Tyr86=)
17	g.63972586A>C	CA400640150	SCN4A	c.256T>G (p.Tyr86Asp)
17	g.63972586A>G	CA400640151	SCN4A	c.256T>C (p.Tyr86His)
17	g.63972586A>T	CA400640152	SCN4A	c.256T>A (p.Tyr86Asn)
17	g.63972587G>A	CA501348998	SCN4A	c.255C>T (p.Pro85=)
17	g.63972587G>C	CA501348997	SCN4A	c.255C>G (p.Pro85=)
17	g.63972587G>T	CA501348996	SCN4A	c.255C>A (p.Pro85=)
17	g.63972588G>A	CA400640153	SCN4A	c.254C>T (p.Pro85Leu)	COSMIC
17	g.63972588G>C	CA400640154	SCN4A	c.254C>G (p.Pro85Arg)
17	g.63972588G>T	CA400640155	SCN4A	c.254C>A (p.Pro85His)
17	g.63972589G>A	CA400640156	SCN4A	c.253C>T (p.Pro85Ser)
17	g.63972589G>C	CA400640157	SCN4A	c.253C>G (p.Pro85Ala)
17	g.63972589G>T	CA400640158	SCN4A	c.253C>A (p.Pro85Thr)
17	g.63972590A>C	CA400640159	SCN4A	c.252T>G (p.Asp84Glu)
17	g.63972590A>G	CA501348999	SCN4A	c.252T>C (p.Asp84=)
17	g.63972590A>T	CA400640160	SCN4A	c.252T>A (p.Asp84Glu)
17	g.63972591T>A	CA400640161	SCN4A	c.251A>T (p.Asp84Val)
17	g.63972591T>C	CA400640162	SCN4A	c.251A>G (p.Asp84Gly)
17	g.63972591T>G	CA400640163	SCN4A	c.251A>C (p.Asp84Ala)
17	g.63972592C>A	CA400640164	SCN4A	c.250G>T (p.Asp84Tyr)
17	g.63972592C>G	CA400640165	SCN4A	c.250G>C (p.Asp84His)
17	g.63972592C>T	CA400640166	SCN4A	c.250G>A (p.Asp84Asn)
17	g.63972593C>A	CA501349000	SCN4A	c.249G>T (p.Leu83=)
17	g.63972593C>G	CA501349001	SCN4A	c.249G>C (p.Leu83=)
17	g.63972593C>T	CA501349002	SCN4A	c.249G>A (p.Leu83=)
17	g.63972594A=	CA2270175925	SCN4A	c.248T= (p.Leu83=)
17	g.63972594A>C	CA400640167	SCN4A	c.248T>G (p.Leu83Arg)
17	g.63972594A>G	CA8710242	SCN4A	c.248T>C (p.Leu83Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972594A>T	CA400640168	SCN4A	c.248T>A (p.Leu83Gln)
17	g.63972595G>A	CA501349003	SCN4A	c.247C>T (p.Leu83=)
17	g.63972595G>C	CA8710243	SCN4A	c.247C>G (p.Leu83Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63972595G=	CA2270175926	SCN4A	c.247C= (p.Leu83=)
17	g.63972595G>T	CA400640169	SCN4A	c.247C>A (p.Leu83Met)	gnomAD v4
17	g.63972596G>A	CA501349004	SCN4A	c.246C>T (p.Asp82=)	dbSNP gnomAD v2 gnomAD v4
17	g.63972596G>C	CA400640170	SCN4A	c.246C>G (p.Asp82Glu)
17	g.63972596G=	CA2270175927	SCN4A	c.246C= (p.Asp82=)
17	g.63972596G>T	CA400640171	SCN4A	c.246C>A (p.Asp82Glu)
17	g.63972597T>A	CA400640172	SCN4A	c.245A>T (p.Asp82Val)
17	g.63972597T>C	CA400640174	SCN4A	c.245A>G (p.Asp82Gly)
17	g.63972597T>G	CA400640173	SCN4A	c.245A>C (p.Asp82Ala)
17	g.63972598C>A	CA400640175	SCN4A	c.244G>T (p.Asp82Tyr)	gnomAD v4
17	g.63972598C>G	CA400640176	SCN4A	c.244G>C (p.Asp82His)
17	g.63972598C>T	CA400640177	SCN4A	c.244G>A (p.Asp82Asn)	COSMIC
17	g.63972599C>A	CA292972884	SCN4A	c.243G>T (p.Glu81Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972599C=	CA2270175928	SCN4A	c.243G= (p.Glu81=)
17	g.63972599C>G	CA400640178	SCN4A	c.243G>C (p.Glu81Asp)	dbSNP
17	g.63972599C>T	CA501349005	SCN4A	c.243G>A (p.Glu81=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972600T>A	CA400640179	SCN4A	c.242A>T (p.Glu81Val)
17	g.63972600T>C	CA400640180	SCN4A	c.242A>G (p.Glu81Gly)
17	g.63972600T>G	CA400640181	SCN4A	c.242A>C (p.Glu81Ala)
17	g.63972601C>A	CA400640182	SCN4A	c.241G>T (p.Glu81Ter)	dbSNP
17	g.63972601C=	CA2270175929	SCN4A	c.241G= (p.Glu81=)
17	g.63972601C>G	CA8710244	SCN4A	c.241G>C (p.Glu81Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972601C>T	CA400640183	SCN4A	c.241G>A (p.Glu81Lys)	COSMIC
17	g.63972602C>A	CA501349006	SCN4A	c.240G>T (p.Leu80=)
17	g.63972602C=	CA2270175930	SCN4A	c.240G= (p.Leu80=)
17	g.63972602C>G	CA501349007	SCN4A	c.240G>C (p.Leu80=)
17	g.63972602C>T	CA8710245	SCN4A	c.240G>A (p.Leu80=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972603A>C	CA400640186	SCN4A	c.239T>G (p.Leu80Arg)
17	g.63972603A>G	CA400640184	SCN4A	c.239T>C (p.Leu80Pro)
17	g.63972603A>T	CA400640185	SCN4A	c.239T>A (p.Leu80Gln)	gnomAD v4
17	g.63972604G>A	CA8710246	SCN4A	c.238C>T (p.Leu80=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972604G>C	CA400640187	SCN4A	c.238C>G (p.Leu80Val)
17	g.63972604G=	CA2270175931	SCN4A	c.238C= (p.Leu80=)
17	g.63972604G>T	CA400640188	SCN4A	c.238C>A (p.Leu80Met)	gnomAD v4
17	g.63972608dup	CA2810128112	SCN4A	c.238dup (p.Leu80ProfsTer11)
17	g.63972605G>A	CA8710247	SCN4A	c.237C>T (p.Pro79=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972605G>C	CA501349009	SCN4A	c.237C>G (p.Pro79=)
17	g.63972605G=	CA2270175932	SCN4A	c.237C= (p.Pro79=)
17	g.63972605G>T	CA501349008	SCN4A	c.237C>A (p.Pro79=)
17	g.63972606G>A	CA400640189	SCN4A	c.236C>T (p.Pro79Leu)	dbSNP gnomAD v2
17	g.63972606G>C	CA400640190	SCN4A	c.236C>G (p.Pro79Arg)
17	g.63972606G=	CA2270175933	SCN4A	c.236C= (p.Pro79=)
17	g.63972606G>T	CA400640191	SCN4A	c.236C>A (p.Pro79His)
17	g.63972607G>A	CA8710248	SCN4A	c.235C>T (p.Pro79Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972607G>C	CA400640192	SCN4A	c.235C>G (p.Pro79Ala)	dbSNP gnomAD v4
17	g.63972607G=	CA2270175934	SCN4A	c.235C= (p.Pro79=)
17	g.63972607G>T	CA8710249	SCN4A	c.235C>A (p.Pro79Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63972608G>A	CA501349010	SCN4A	c.234C>T (p.Ile78=)	dbSNP gnomAD v3 gnomAD v4
17	g.63972608G>C	CA400640193	SCN4A	c.234C>G (p.Ile78Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972608G=	CA2270175935	SCN4A	c.234C= (p.Ile78=)
17	g.63972608G>T	CA501349011	SCN4A	c.234C>A (p.Ile78=)
17	g.63972609A>C	CA400640194	SCN4A	c.233T>G (p.Ile78Ser)
17	g.63972609A>G	CA400640196	SCN4A	c.233T>C (p.Ile78Thr)
17	g.63972609A>T	CA400640195	SCN4A	c.233T>A (p.Ile78Asn)
17	g.63972610T>A	CA400640197	SCN4A	c.232A>T (p.Ile78Phe)
17	g.63972610T>C	CA400640199	SCN4A	c.232A>G (p.Ile78Val)
17	g.63972610T>G	CA400640198	SCN4A	c.232A>C (p.Ile78Leu)
17	g.63972611G>A	CA292972885	SCN4A	c.231C>T (p.Gly77=)	dbSNP gnomAD v4
17	g.63972611G>C	CA501349015	SCN4A	c.231C>G (p.Gly77=)
17	g.63972611G=	CA2270175936	SCN4A	c.231C= (p.Gly77=)
17	g.63972611G>T	CA501349016	SCN4A	c.231C>A (p.Gly77=)
17	g.63972612C>A	CA400640200	SCN4A	c.230G>T (p.Gly77Val)
17	g.63972612C>G	CA400640201	SCN4A	c.230G>C (p.Gly77Ala)
17	g.63972612C>T	CA400640202	SCN4A	c.230G>A (p.Gly77Asp)	gnomAD v4 COSMIC
17	g.63972613C>A	CA400640203	SCN4A	c.229G>T (p.Gly77Cys)	gnomAD v4
17	g.63972613C=	CA2270175937	SCN4A	c.229G= (p.Gly77=)
17	g.63972613C>G	CA400640204	SCN4A	c.229G>C (p.Gly77Arg)
17	g.63972613C>T	CA8710250	SCN4A	c.229G>A (p.Gly77Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972614G>A	CA501349018	SCN4A	c.228C>T (p.Ile76=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972614G>C	CA400640205	SCN4A	c.228C>G (p.Ile76Met)
17	g.63972614G=	CA2270175938	SCN4A	c.228C= (p.Ile76=)
17	g.63972614G>T	CA501349019	SCN4A	c.228C>A (p.Ile76=)	gnomAD v4
17	g.63972615A>C	CA400640206	SCN4A	c.227T>G (p.Ile76Ser)
17	g.63972615A>G	CA400640207	SCN4A	c.227T>C (p.Ile76Thr)
17	g.63972615A>T	CA400640208	SCN4A	c.227T>A (p.Ile76Asn)
17	g.63972616T>A	CA8710251	SCN4A	c.226A>T (p.Ile76Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63972616T>C	CA400640209	SCN4A	c.226A>G (p.Ile76Val)	dbSNP gnomAD v4
17	g.63972616T>G	CA400640210	SCN4A	c.226A>C (p.Ile76Leu)
17	g.63972616T=	CA2270175939	SCN4A	c.226A= (p.Ile76=)
17	g.63972617G>A	CA501349023	SCN4A	c.225C>T (p.Val75=)	ClinVar gnomAD v4
17	g.63972617G>C	CA501349024	SCN4A	c.225C>G (p.Val75=)
17	g.63972617G>T	CA501349025	SCN4A	c.225C>A (p.Val75=)
17	g.63972618A=	CA2270175940	SCN4A	c.224T= (p.Val75=)
17	g.63972618A>C	CA400640213	SCN4A	c.224T>G (p.Val75Gly)	dbSNP
17	g.63972618A>G	CA400640211	SCN4A	c.224T>C (p.Val75Ala)	gnomAD v4
17	g.63972618A>T	CA400640212	SCN4A	c.224T>A (p.Val75Asp)
17	g.63972619C>A	CA400640214	SCN4A	c.223G>T (p.Val75Phe)	ClinVar dbSNP
17	g.63972619C=	CA2270175941	SCN4A	c.223G= (p.Val75=)
17	g.63972619C>G	CA400640215	SCN4A	c.223G>C (p.Val75Leu)
17	g.63972619C>T	CA400640216	SCN4A	c.223G>A (p.Val75Ile)
17	g.63972620C>A	CA400640217	SCN4A	c.222G>T (p.Glu74Asp)
17	g.63972620C=	CA2270175942	SCN4A	c.222G= (p.Glu74=)
17	g.63972620C>G	CA400640218	SCN4A	c.222G>C (p.Glu74Asp)
17	g.63972620C>T	CA501349029	SCN4A	c.222G>A (p.Glu74=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972621T>A	CA400640219	SCN4A	c.221A>T (p.Glu74Val)
17	g.63972621T>C	CA400640220	SCN4A	c.221A>G (p.Glu74Gly)
17	g.63972621T>G	CA400640221	SCN4A	c.221A>C (p.Glu74Ala)
17	g.63972622C>A	CA400640222	SCN4A	c.220G>T (p.Glu74Ter)	dbSNP
17	g.63972622C=	CA2270175943	SCN4A	c.220G= (p.Glu74=)
17	g.63972622C>G	CA400640223	SCN4A	c.220G>C (p.Glu74Gln)	dbSNP
17	g.63972622C>T	CA400640224	SCN4A	c.220G>A (p.Glu74Lys)
17	g.63972623C>A	CA501349033	SCN4A	c.219G>T (p.Pro73=)	dbSNP gnomAD v3 gnomAD v4
17	g.63972623C=	CA2270175944	SCN4A	c.219G= (p.Pro73=)
17	g.63972623C>G	CA501349034	SCN4A	c.219G>C (p.Pro73=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972623C>T	CA8710252	SCN4A	c.219G>A (p.Pro73=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972624G>A	CA8710253	SCN4A	c.218C>T (p.Pro73Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972624G>C	CA400640226	SCN4A	c.218C>G (p.Pro73Arg)
17	g.63972624G=	CA2270175945	SCN4A	c.218C= (p.Pro73=)
17	g.63972624G>T	CA400640225	SCN4A	c.218C>A (p.Pro73Gln)
17	g.63972625G>A	CA400640227	SCN4A	c.217C>T (p.Pro73Ser)	dbSNP
17	g.63972625G>C	CA400640228	SCN4A	c.217C>G (p.Pro73Ala)
17	g.63972625G=	CA2270175946	SCN4A	c.217C= (p.Pro73=)
17	g.63972625G>T	CA400640229	SCN4A	c.217C>A (p.Pro73Thr)	gnomAD v4
17	g.63972626C>A	CA501349041	SCN4A	c.216G>T (p.Pro72=)	dbSNP gnomAD v2
17	g.63972626C=	CA2270175947	SCN4A	c.216G= (p.Pro72=)
17	g.63972626C>G	CA501349039	SCN4A	c.216G>C (p.Pro72=)
17	g.63972626C>T	CA8710254	SCN4A	c.216G>A (p.Pro72=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972627G>A	CA400640230	SCN4A	c.215C>T (p.Pro72Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63972627G>C	CA400640231	SCN4A	c.215C>G (p.Pro72Arg)
17	g.63972627G=	CA2270175948	SCN4A	c.215C= (p.Pro72=)
17	g.63972627G>T	CA400640232	SCN4A	c.215C>A (p.Pro72Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972632dup	CA916083622	SCN4A	c.215dup (p.Pro73AlafsTer18)	ClinVar dbSNP
17	g.63972632del	CA2639312921	SCN4A	c.215del (p.Pro72ArgfsTer?)	gnomAD v4
17	g.63972628G>A	CA400640233	SCN4A	c.214C>T (p.Pro72Ser)
17	g.63972628G>C	CA400640234	SCN4A	c.214C>G (p.Pro72Ala)
17	g.63972628G=	CA2270175949	SCN4A	c.214C= (p.Pro72=)
17	g.63972628G>T	CA400640235	SCN4A	c.214C>A (p.Pro72Thr)	dbSNP gnomAD v2
17	g.63972629G>A	CA501349046	SCN4A	c.213C>T (p.Pro71=)	ClinVar dbSNP
17	g.63972629G>C	CA501349045	SCN4A	c.213C>G (p.Pro71=)
17	g.63972629G>T	CA501349044	SCN4A	c.213C>A (p.Pro71=)
17	g.63972630G>A	CA8710255	SCN4A	c.212C>T (p.Pro71Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63972630G>C	CA400640237	SCN4A	c.212C>G (p.Pro71Arg)
17	g.63972630G=	CA2270175950	SCN4A	c.212C= (p.Pro71=)
17	g.63972630G>T	CA400640236	SCN4A	c.212C>A (p.Pro71His)	dbSNP gnomAD v4
17	g.63972631G>A	CA8710256	SCN4A	c.211C>T (p.Pro71Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972631G>C	CA400640238	SCN4A	c.211C>G (p.Pro71Ala)	dbSNP
17	g.63972631G=	CA2270175951	SCN4A	c.211C= (p.Pro71=)
17	g.63972631G>T	CA400640239	SCN4A	c.211C>A (p.Pro71Thr)	dbSNP
17	g.63972632G>A	CA8710257	SCN4A	c.210C>T (p.Asp70=)	dbSNP ExAC gnomAD v4
17	g.63972632G>C	CA400640240	SCN4A	c.210C>G (p.Asp70Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.63972632G=	CA2270175952	SCN4A	c.210C= (p.Asp70=)
17	g.63972632G>T	CA400640241	SCN4A	c.210C>A (p.Asp70Glu)	dbSNP gnomAD v4
17	g.63972633T>A	CA400640242	SCN4A	c.209A>T (p.Asp70Val)
17	g.63972633T>C	CA400640243	SCN4A	c.209A>G (p.Asp70Gly)
17	g.63972633T>G	CA400640244	SCN4A	c.209A>C (p.Asp70Ala)
17	g.63972634C>A	CA292972886	SCN4A	c.208G>T (p.Asp70Tyr)	dbSNP gnomAD v4
17	g.63972634C=	CA2270175953	SCN4A	c.208G= (p.Asp70=)
17	g.63972634C>G	CA400640245	SCN4A	c.208G>C (p.Asp70His)
17	g.63972634C>T	CA400640246	SCN4A	c.208G>A (p.Asp70Asn)
17	g.63972635T>A	CA501349049	SCN4A	c.207A>T (p.Gly69=)
17	g.63972635T>C	CA501349050	SCN4A	c.207A>G (p.Gly69=)	dbSNP gnomAD v2 gnomAD v4
17	g.63972635T>G	CA501349051	SCN4A	c.207A>C (p.Gly69=)
17	g.63972635T=	CA2270175954	SCN4A	c.207A= (p.Gly69=)
17	g.63972636C>A	CA400640247	SCN4A	c.206G>T (p.Gly69Val)
17	g.63972636C=	CA2270175955	SCN4A	c.206G= (p.Gly69=)
17	g.63972636C>G	CA400640248	SCN4A	c.206G>C (p.Gly69Ala)
17	g.63972636C>T	CA292972887	SCN4A	c.206G>A (p.Gly69Glu)	dbSNP COSMIC
17	g.63972637C>A	CA400640250	SCN4A	c.205G>T (p.Gly69Ter)	dbSNP
17	g.63972637C=	CA2270175956	SCN4A	c.205G= (p.Gly69=)
17	g.63972637C>G	CA400640249	SCN4A	c.205G>C (p.Gly69Arg)
17	g.63972637C>T	CA10650663	SCN4A	c.205G>A (p.Gly69Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972638G>A	CA8710258	SCN4A	c.204C>T (p.Tyr68=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63972638G>C	CA400640251	SCN4A	c.204C>G (p.Tyr68Ter)
17	g.63972638G=	CA2270175957	SCN4A	c.204C= (p.Tyr68=)
17	g.63972638G>T	CA400640252	SCN4A	c.204C>A (p.Tyr68Ter)
17	g.63972639T>A	CA400640253	SCN4A	c.203A>T (p.Tyr68Phe)
17	g.63972639T>C	CA400640254	SCN4A	c.203A>G (p.Tyr68Cys)
17	g.63972639T>G	CA400640255	SCN4A	c.203A>C (p.Tyr68Ser)
17	g.63972640A=	CA2270175958	SCN4A	c.202T= (p.Tyr68=)
17	g.63972640A>C	CA400640256	SCN4A	c.202T>G (p.Tyr68Asp)
17	g.63972640A>G	CA8710259	SCN4A	c.202T>C (p.Tyr68His)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63972640A>T	CA400640257	SCN4A	c.202T>A (p.Tyr68Asn)
17	g.63972641G>A	CA501349054	SCN4A	c.201C>T (p.Ile67=)
17	g.63972641G>C	CA400640258	SCN4A	c.201C>G (p.Ile67Met)	COSMIC
17	g.63972641G>T	CA501349057	SCN4A	c.201C>A (p.Ile67=)
17	g.63972642A=	CA2270175959	SCN4A	c.200T= (p.Ile67=)
17	g.63972642A>C	CA400640261	SCN4A	c.200T>G (p.Ile67Ser)
17	g.63972642A>G	CA400640259	SCN4A	c.200T>C (p.Ile67Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.63972642A>T	CA400640260	SCN4A	c.200T>A (p.Ile67Asn)
17	g.63972643T>A	CA400640262	SCN4A	c.199A>T (p.Ile67Phe)
17	g.63972643T>C	CA8710260	SCN4A	c.199A>G (p.Ile67Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972643T>G	CA400640263	SCN4A	c.199A>C (p.Ile67Leu)
17	g.63972643T=	CA2270175960	SCN4A	c.199A= (p.Ile67=)
17	g.63972644C>A	CA400640264	SCN4A	c.198G>T (p.Met66Ile)
17	g.63972644C=	CA2270175961	SCN4A	c.198G= (p.Met66=)
17	g.63972644C>G	CA400640265	SCN4A	c.198G>C (p.Met66Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.63972644C>T	CA400640266	SCN4A	c.198G>A (p.Met66Ile)	COSMIC
17	g.63972645A>C	CA400640267	SCN4A	c.197T>G (p.Met66Arg)
17	g.63972645A>G	CA400640268	SCN4A	c.197T>C (p.Met66Thr)
17	g.63972645A>T	CA400640269	SCN4A	c.197T>A (p.Met66Lys)	gnomAD v4
17	g.63972646T>A	CA400640270	SCN4A	c.196A>T (p.Met66Leu)
17	g.63972646T>C	CA8710261	SCN4A	c.196A>G (p.Met66Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63972646T>G	CA400640271	SCN4A	c.196A>C (p.Met66Leu)
17	g.63972646T=	CA2270175962	SCN4A	c.196A= (p.Met66=)
17	g.63972647G>A	CA501349064	SCN4A	c.195C>T (p.Pro65=)
17	g.63972647G>C	CA501349063	SCN4A	c.195C>G (p.Pro65=)
17	g.63972647G>T	CA501349062	SCN4A	c.195C>A (p.Pro65=)
17	g.63972648G>A	CA400640273	SCN4A	c.194C>T (p.Pro65Leu)
17	g.63972648G>C	CA400640274	SCN4A	c.194C>G (p.Pro65Arg)	gnomAD v4
17	g.63972648G>T	CA400640272	SCN4A	c.194C>A (p.Pro65His)	COSMIC
17	g.63972649G>A	CA400640275	SCN4A	c.193C>T (p.Pro65Ser)	dbSNP gnomAD v4
17	g.63972649G>C	CA400640276	SCN4A	c.193C>G (p.Pro65Ala)
17	g.63972649G=	CA2270175963	SCN4A	c.193C= (p.Pro65=)
17	g.63972649G>T	CA400640277	SCN4A	c.193C>A (p.Pro65Thr)
17	g.63972650T>A	CA501349065	SCN4A	c.192A>T (p.Leu64=)
17	g.63972650T>C	CA501349067	SCN4A	c.192A>G (p.Leu64=)
17	g.63972650T>G	CA501349066	SCN4A	c.192A>C (p.Leu64=)

Number of alleles fetched