Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63971201G>A	CA345718	SCN4A	c.664C>T (p.Arg222Trp)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63971201G>C	CA400638264	SCN4A	c.664C>G (p.Arg222Gly)	ClinVar gnomAD v4
17	g.63971201G=	CA2270175238	SCN4A	c.664C= (p.Arg222=)
17	g.63971201G>T	CA501226795	SCN4A	c.664C>A (p.Arg222=)	gnomAD v4
17	g.63971202G>A	CA501226796	SCN4A	c.663C>T (p.Phe221=)	gnomAD v4
17	g.63971202G>C	CA400638265	SCN4A	c.663C>G (p.Phe221Leu)
17	g.63971202G>T	CA400638266	SCN4A	c.663C>A (p.Phe221Leu)	gnomAD v4
17	g.63971203A>C	CA400638269	SCN4A	c.662T>G (p.Phe221Cys)
17	g.63971203A>G	CA400638268	SCN4A	c.662T>C (p.Phe221Ser)
17	g.63971203A>T	CA400638267	SCN4A	c.662T>A (p.Phe221Tyr)
17	g.63971204A>C	CA400638270	SCN4A	c.661T>G (p.Phe221Val)	gnomAD v4
17	g.63971204A>G	CA400638271	SCN4A	c.661T>C (p.Phe221Leu)
17	g.63971204A>T	CA400638272	SCN4A	c.661T>A (p.Phe221Ile)	gnomAD v4
17	g.63971205G>A	CA501226802	SCN4A	c.660C>T (p.Thr220=)	gnomAD v4
17	g.63971205G>C	CA501226803	SCN4A	c.660C>G (p.Thr220=)
17	g.63971205G>T	CA501226804	SCN4A	c.660C>A (p.Thr220=)	gnomAD v4
17	g.63971206G>A	CA8710087	SCN4A	c.659C>T (p.Thr220Ile)	dbSNP ExAC gnomAD v2
17	g.63971206G>C	CA400638273	SCN4A	c.659C>G (p.Thr220Ser)
17	g.63971206G=	CA2270175239	SCN4A	c.659C= (p.Thr220=)
17	g.63971206G>T	CA400638274	SCN4A	c.659C>A (p.Thr220Asn)	dbSNP gnomAD v4
17	g.63971207T>A	CA400638277	SCN4A	c.658A>T (p.Thr220Ser)
17	g.63971207T>C	CA400638276	SCN4A	c.658A>G (p.Thr220Ala)	gnomAD v4
17	g.63971207T>G	CA400638275	SCN4A	c.658A>C (p.Thr220Pro)
17	g.63971208C>A	CA400638278	SCN4A	c.657G>T (p.Arg219Ser)	gnomAD v4
17	g.63971208C>G	CA400638279	SCN4A	c.657G>C (p.Arg219Ser)
17	g.63971208C>T	CA501226806	SCN4A	c.657G>A (p.Arg219=)	gnomAD v4
17	g.63971209del	CA2639325631	SCN4A	c.657del (p.Thr220ProfsTer17)	gnomAD v4
17	g.63971209C>A	CA400638280	SCN4A	c.656G>T (p.Arg219Met)	gnomAD v4
17	g.63971209C=	CA2270175240	SCN4A	c.656G= (p.Arg219=)
17	g.63971209C>G	CA400638281	SCN4A	c.656G>C (p.Arg219Thr)	dbSNP gnomAD v3 gnomAD v4
17	g.63971209C>T	CA400638282	SCN4A	c.656G>A (p.Arg219Lys)	gnomAD v4
17	g.63971210T>A	CA400638283	SCN4A	c.655A>T (p.Arg219Trp)	gnomAD v4
17	g.63971210T>C	CA400638284	SCN4A	c.655A>G (p.Arg219Gly)	gnomAD v4
17	g.63971210T>G	CA501226807	SCN4A	c.655A>C (p.Arg219=)
17	g.63971211C>A	CA501226808	SCN4A	c.654G>T (p.Leu218=)	gnomAD v4
17	g.63971211C>G	CA501226809	SCN4A	c.654G>C (p.Leu218=)	gnomAD v4
17	g.63971211C>T	CA501226810	SCN4A	c.654G>A (p.Leu218=)	gnomAD v4
17	g.63971212A>C	CA400638285	SCN4A	c.653T>G (p.Leu218Arg)
17	g.63971212A>G	CA400638286	SCN4A	c.653T>C (p.Leu218Pro)	gnomAD v4
17	g.63971212A>T	CA400638287	SCN4A	c.653T>A (p.Leu218Gln)	gnomAD v4
17	g.63971213G>A	CA501226811	SCN4A	c.652C>T (p.Leu218=)	ClinVar gnomAD v4
17	g.63971213G>C	CA292972569	SCN4A	c.652C>G (p.Leu218Val)	dbSNP
17	g.63971213G=	CA2270175241	SCN4A	c.652C= (p.Leu218=)
17	g.63971213G>T	CA292972571	SCN4A	c.652C>A (p.Leu218Met)	dbSNP gnomAD v4
17	g.63971215del	CA2639325679	SCN4A	c.652del (p.Leu218Ter)	gnomAD v4
17	g.63971214G>A	CA501226813	SCN4A	c.651C>T (p.Ala217=)
17	g.63971214G>C	CA501226814	SCN4A	c.651C>G (p.Ala217=)
17	g.63971214G>T	CA501226815	SCN4A	c.651C>A (p.Ala217=)	gnomAD v4
17	g.63971215G>A	CA400638289	SCN4A	c.650C>T (p.Ala217Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971215G>C	CA400638290	SCN4A	c.650C>G (p.Ala217Gly)
17	g.63971215G=	CA2270175242	SCN4A	c.650C= (p.Ala217=)
17	g.63971215G>T	CA400638288	SCN4A	c.650C>A (p.Ala217Asp)	gnomAD v4
17	g.63971216C>A	CA400638291	SCN4A	c.649G>T (p.Ala217Ser)	gnomAD v4
17	g.63971216C>G	CA400638292	SCN4A	c.649G>C (p.Ala217Pro)
17	g.63971216C>T	CA400638293	SCN4A	c.649G>A (p.Ala217Thr)
17	g.63971217T>A	CA501226817	SCN4A	c.648A>T (p.Ser216=)
17	g.63971217T>C	CA501226818	SCN4A	c.648A>G (p.Ser216=)	gnomAD v4
17	g.63971217T>G	CA501226816	SCN4A	c.648A>C (p.Ser216=)	gnomAD v4
17	g.63971218G>A	CA400638294	SCN4A	c.647C>T (p.Ser216Leu)	gnomAD v4
17	g.63971218G>C	CA400638295	SCN4A	c.647C>G (p.Ser216Ter)	gnomAD v4
17	g.63971218G>T	CA400638296	SCN4A	c.647C>A (p.Ser216Ter)	gnomAD v4
17	g.63971219A>C	CA400638297	SCN4A	c.646T>G (p.Ser216Ala)
17	g.63971219A>G	CA400638299	SCN4A	c.646T>C (p.Ser216Pro)
17	g.63971219A>T	CA400638298	SCN4A	c.646T>A (p.Ser216Thr)	gnomAD v4
17	g.63971220G>A	CA501226820	SCN4A	c.645C>T (p.Ile215=)	dbSNP gnomAD v4
17	g.63971220G>C	CA292972573	SCN4A	c.645C>G (p.Ile215Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971220G=	CA2270175243	SCN4A	c.645C= (p.Ile215=)
17	g.63971220G>T	CA501226821	SCN4A	c.645C>A (p.Ile215=)	gnomAD v4
17	g.63971221A=	CA2270175244	SCN4A	c.644T= (p.Ile215=)
17	g.63971221A>C	CA400638300	SCN4A	c.644T>G (p.Ile215Ser)
17	g.63971221A>G	CA400638301	SCN4A	c.644T>C (p.Ile215Thr)	ClinVar dbSNP gnomAD v4
17	g.63971221A>T	CA400638302	SCN4A	c.644T>A (p.Ile215Asn)
17	g.63971222T>A	CA400638303	SCN4A	c.643A>T (p.Ile215Phe)
17	g.63971222T>C	CA400638305	SCN4A	c.643A>G (p.Ile215Val)
17	g.63971222T>G	CA400638304	SCN4A	c.643A>C (p.Ile215Leu)
17	g.63971223G>A	CA501226825	SCN4A	c.642C>T (p.Asn214=)	gnomAD v4
17	g.63971223G>C	CA400638306	SCN4A	c.642C>G (p.Asn214Lys)	gnomAD v4
17	g.63971223G>T	CA400638307	SCN4A	c.642C>A (p.Asn214Lys)	gnomAD v4
17	g.63971224T>A	CA400638308	SCN4A	c.641A>T (p.Asn214Ile)
17	g.63971224T>C	CA400638310	SCN4A	c.641A>G (p.Asn214Ser)	gnomAD v4
17	g.63971224T>G	CA400638309	SCN4A	c.641A>C (p.Asn214Thr)
17	g.63971225del	CA2576356171	SCN4A	c.641del (p.Asn214ThrfsTer5)
17	g.63971225T>A	CA400638311	SCN4A	c.640A>T (p.Asn214Tyr)
17	g.63971225T>C	CA400638313	SCN4A	c.640A>G (p.Asn214Asp)	gnomAD v4
17	g.63971225T>G	CA400638312	SCN4A	c.640A>C (p.Asn214His)	gnomAD v4
17	g.63971226G>A	CA501226830	SCN4A	c.639C>T (p.Gly213=)	gnomAD v4
17	g.63971226G>C	CA501226831	SCN4A	c.639C>G (p.Gly213=)	gnomAD v4
17	g.63971226G>T	CA501226832	SCN4A	c.639C>A (p.Gly213=)	gnomAD v4
17	g.63971227C>A	CA400638314	SCN4A	c.638G>T (p.Gly213Val)	gnomAD v4
17	g.63971227C>G	CA400638316	SCN4A	c.638G>C (p.Gly213Ala)
17	g.63971227C>T	CA400638315	SCN4A	c.638G>A (p.Gly213Asp)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.63971229del	CA2639325772	SCN4A	c.638del (p.Gly213AlafsTer6)	gnomAD v4
17	g.63971228C>A	CA400638317	SCN4A	c.637G>T (p.Gly213Cys)	gnomAD v4
17	g.63971228C>G	CA400638318	SCN4A	c.637G>C (p.Gly213Arg)	gnomAD v4
17	g.63971228C>T	CA400638319	SCN4A	c.637G>A (p.Gly213Ser)
17	g.63971229C>A	CA8710088	SCN4A	c.636G>T (p.Leu212Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971229C=	CA2270175245	SCN4A	c.636G= (p.Leu212=)
17	g.63971229C>G	CA400638320	SCN4A	c.636G>C (p.Leu212Phe)
17	g.63971229C>T	CA501226836	SCN4A	c.636G>A (p.Leu212=)	dbSNP gnomAD v2 gnomAD v4
17	g.63971230A=	CA2270175246	SCN4A	c.635T= (p.Leu212=)
17	g.63971230A>C	CA400638321	SCN4A	c.635T>G (p.Leu212Trp)
17	g.63971230A>G	CA400638322	SCN4A	c.635T>C (p.Leu212Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.63971230A>T	CA400638323	SCN4A	c.635T>A (p.Leu212Ter)	dbSNP
17	g.63971231del	CA2576356172	SCN4A	c.635del (p.Leu212TrpfsTer7)
17	g.63971231A>C	CA400638324	SCN4A	c.634T>G (p.Leu212Val)
17	g.63971231A>G	CA501226839	SCN4A	c.634T>C (p.Leu212=)	gnomAD v4
17	g.63971231A>T	CA400638325	SCN4A	c.634T>A (p.Leu212Met)	gnomAD v4
17	g.63971232G>A	CA8710089	SCN4A	c.633C>T (p.Asp211=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971232G>C	CA400638327	SCN4A	c.633C>G (p.Asp211Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.63971232G=	CA2270175247	SCN4A	c.633C= (p.Asp211=)
17	g.63971232G>T	CA400638326	SCN4A	c.633C>A (p.Asp211Glu)	gnomAD v4
17	g.63971233T>A	CA400638328	SCN4A	c.632A>T (p.Asp211Val)
17	g.63971233T>C	CA400638329	SCN4A	c.632A>G (p.Asp211Gly)
17	g.63971233T>G	CA400638330	SCN4A	c.632A>C (p.Asp211Ala)
17	g.63971234C>A	CA400638331	SCN4A	c.631G>T (p.Asp211Tyr)	gnomAD v4
17	g.63971234C>G	CA400638332	SCN4A	c.631G>C (p.Asp211His)
17	g.63971234C>T	CA400638333	SCN4A	c.631G>A (p.Asp211Asn)	gnomAD v4
17	g.63971235del	CA2639325808	SCN4A	c.631del (p.Asp211ThrfsTer8)	gnomAD v4
17	g.63971235C>A	CA501226843	SCN4A	c.630G>T (p.Val210=)	gnomAD v4
17	g.63971235C>G	CA501226844	SCN4A	c.630G>C (p.Val210=)
17	g.63971235C>T	CA501226845	SCN4A	c.630G>A (p.Val210=)	dbSNP gnomAD v3 gnomAD v4
17	g.63971236A>C	CA400638334	SCN4A	c.629T>G (p.Val210Gly)
17	g.63971236A>G	CA400638335	SCN4A	c.629T>C (p.Val210Ala)	gnomAD v4
17	g.63971236A>T	CA400638336	SCN4A	c.629T>A (p.Val210Glu)	gnomAD v4
17	g.63971237C>A	CA400638337	SCN4A	c.628G>T (p.Val210Leu)	gnomAD v4
17	g.63971237C=	CA2270175248	SCN4A	c.628G= (p.Val210=)
17	g.63971237C>G	CA400638338	SCN4A	c.628G>C (p.Val210Leu)
17	g.63971237C>T	CA400638339	SCN4A	c.628G>A (p.Val210Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63971238A>C	CA400638340	SCN4A	c.627T>G (p.Phe209Leu)
17	g.63971238A>G	CA501226846	SCN4A	c.627T>C (p.Phe209=)	gnomAD v4
17	g.63971238A>T	CA400638341	SCN4A	c.627T>A (p.Phe209Leu)
17	g.63971239A>C	CA400638342	SCN4A	c.626T>G (p.Phe209Cys)
17	g.63971239A>G	CA400638343	SCN4A	c.626T>C (p.Phe209Ser)
17	g.63971239A>T	CA400638344	SCN4A	c.626T>A (p.Phe209Tyr)
17	g.63971240A=	CA2270175249	SCN4A	c.625T= (p.Phe209=)
17	g.63971240A>C	CA400638345	SCN4A	c.625T>G (p.Phe209Val)	dbSNP gnomAD v3 gnomAD v4
17	g.63971240A>G	CA400638346	SCN4A	c.625T>C (p.Phe209Leu)
17	g.63971240A>T	CA400638347	SCN4A	c.625T>A (p.Phe209Ile)	gnomAD v4
17	g.63971241C>A	CA400638348	SCN4A	c.624G>T (p.Glu208Asp)	gnomAD v4
17	g.63971241C>G	CA400638349	SCN4A	c.624G>C (p.Glu208Asp)
17	g.63971241C>T	CA501226848	SCN4A	c.624G>A (p.Glu208=)	gnomAD v4
17	g.63971242T>A	CA400638350	SCN4A	c.623A>T (p.Glu208Val)
17	g.63971242T>C	CA400638351	SCN4A	c.623A>G (p.Glu208Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.63971242T>G	CA400638352	SCN4A	c.623A>C (p.Glu208Ala)
17	g.63971242T=	CA2270175250	SCN4A	c.623A= (p.Glu208=)
17	g.63971243C>A	CA400638355	SCN4A	c.622G>T (p.Glu208Ter)	dbSNP gnomAD v4
17	g.63971243C=	CA2270175251	SCN4A	c.622G= (p.Glu208=)
17	g.63971243C>G	CA400638354	SCN4A	c.622G>C (p.Glu208Gln)	gnomAD v4
17	g.63971243C>T	CA400638353	SCN4A	c.622G>A (p.Glu208Lys)
17	g.63971250_63971288del	CA2639325839	SCN4A	c.612-28_622del	gnomAD v4
17	g.63971244T>A	CA501226852	SCN4A	c.621A>T (p.Thr207=)	gnomAD v4
17	g.63971244T>C	CA8710090	SCN4A	c.621A>G (p.Thr207=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971244T>G	CA501226853	SCN4A	c.621A>C (p.Thr207=)	gnomAD v4
17	g.63971244T=	CA2270175252	SCN4A	c.621A= (p.Thr207=)
17	g.63971245G>A	CA400638356	SCN4A	c.620C>T (p.Thr207Ile)	gnomAD v4
17	g.63971245G>C	CA400638357	SCN4A	c.620C>G (p.Thr207Arg)
17	g.63971245G>T	CA400638358	SCN4A	c.620C>A (p.Thr207Lys)	gnomAD v4
17	g.63971246T>A	CA400638359	SCN4A	c.619A>T (p.Thr207Ser)	gnomAD v4
17	g.63971246T>C	CA400638360	SCN4A	c.619A>G (p.Thr207Ala)	ClinVar dbSNP gnomAD v4
17	g.63971246T>G	CA400638361	SCN4A	c.619A>C (p.Thr207Pro)
17	g.63971246T=	CA2270175253	SCN4A	c.619A= (p.Thr207=)
17	g.63971247C>A	CA501226856	SCN4A	c.618G>T (p.Leu206=)	gnomAD v4
17	g.63971247C>G	CA501226857	SCN4A	c.618G>C (p.Leu206=)
17	g.63971247C>T	CA501226858	SCN4A	c.618G>A (p.Leu206=)
17	g.63971248A>C	CA400638362	SCN4A	c.617T>G (p.Leu206Arg)	gnomAD v4
17	g.63971248A>G	CA400638363	SCN4A	c.617T>C (p.Leu206Pro)	gnomAD v4
17	g.63971248A>T	CA400638364	SCN4A	c.617T>A (p.Leu206Gln)	dbSNP gnomAD v3 gnomAD v4
17	g.63971249G>A	CA501226859	SCN4A	c.616C>T (p.Leu206=)	gnomAD v4
17	g.63971249G>C	CA400638365	SCN4A	c.616C>G (p.Leu206Val)
17	g.63971249G>T	CA400638366	SCN4A	c.616C>A (p.Leu206Met)	gnomAD v4
17	g.63971250G>A	CA501226860	SCN4A	c.615C>T (p.Tyr205=)	gnomAD v4
17	g.63971250G>C	CA400638367	SCN4A	c.615C>G (p.Tyr205Ter)
17	g.63971250G>T	CA400638368	SCN4A	c.615C>A (p.Tyr205Ter)	gnomAD v4
17	g.63971251T>A	CA400638369	SCN4A	c.614A>T (p.Tyr205Phe)
17	g.63971251T>C	CA292972577	SCN4A	c.614A>G (p.Tyr205Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971251T>G	CA400638370	SCN4A	c.614A>C (p.Tyr205Ser)
17	g.63971251T=	CA2270175254	SCN4A	c.614A= (p.Tyr205=)
17	g.63971252A>C	CA400638371	SCN4A	c.613T>G (p.Tyr205Asp)	gnomAD v4
17	g.63971252A>G	CA400638372	SCN4A	c.613T>C (p.Tyr205His)
17	g.63971252A>T	CA400638373	SCN4A	c.613T>A (p.Tyr205Asn)
17	g.63971252_63971289del	CA2639325869	SCN4A	c.612-36_613del	gnomAD v4
17	g.63971253C>A	CA501226861	SCN4A	c.612G>T (p.Ala204=)	gnomAD v4
17	g.63971253C>G	CA501226862	SCN4A	c.612G>C (p.Ala204=)
17	g.63971253C>T	CA501226863	SCN4A	c.612G>A (p.Ala204=)	gnomAD v4
17	g.63971259_63971296del	CA2639325875	SCN4A	c.612-37_612del	gnomAD v4
17	g.63971253_63971254insGCCACCATGATGACA	CA985437681	SCN4A	c.612-1_612insTGTCATCATGGTGGC (n.612-1_612insTGTCATCATGGTGGC)	gnomAD v3 gnomAD v4
17	g.63971254C>A	CA400638374	SCN4A	c.612-1G>T (n.612-1G>T)	gnomAD v4
17	g.63971254C=	CA2270175255	SCN4A	c.612-1G= (n.612-1G=)
17	g.63971254C>G	CA400638375	SCN4A	c.612-1G>C (n.612-1G>C)	dbSNP gnomAD v4
17	g.63971254C>T	CA400638376	SCN4A	c.612-1G>A (n.612-1G>A)	dbSNP
17	g.63971255T>A	CA400638377	SCN4A	c.612-2A>T (n.612-2A>T)	gnomAD v4
17	g.63971255T>C	CA400638378	SCN4A	c.612-2A>G (n.612-2A>G)	gnomAD v4
17	g.63971255T>G	CA400638379	SCN4A	c.612-2A>C (n.612-2A>C)	dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.63971255T=	CA2270175256	SCN4A	c.612-2A= (n.612-2A=)
17	g.63971256G>A	CA2639325900	SCN4A	c.612-3C>T (n.612-3C>T)	gnomAD v4
17	g.63971256G>T	CA2639325897	SCN4A	c.612-3C>A (n.612-3C>A)	gnomAD v4
17	g.63971260_63971266del	CA2639325893	SCN4A	c.612-9_612-3del (n.612-9_612-3del)	gnomAD v4
17	g.63971260_63971276del	CA2639325901	SCN4A	c.612-19_612-3del (n.612-19_612-3del)	gnomAD v4
17	g.63971260_63971298del	CA2639325902	SCN4A	c.612-41_612-3del (n.612-41_612-3del)	gnomAD v4
17	g.63971256_63971257insAAGTCCAGCCAGTTCCAGGGGTCCCGGAGGAATGTGAAGTCGTCGACACAGAAGCCTC	CA985437684	SCN4A	c.612-4_612-3insGAGGCTTCTGTGTCGACGACTTCACATTCCTCCGGGACCCCTGGAACTGGCTGGACTT (n.612-4_612-3insGAGGCTTCTGTGTCGACGACTTCACATTCCTCCGGGACCCCTGGAACTGGCTGGACTT)	gnomAD v3 gnomAD v4
17	g.63971257G>A	CA2639325907	SCN4A	c.612-4C>T (n.612-4C>T)	gnomAD v4
17	g.63971257G>T	CA2639325906	SCN4A	c.612-4C>A (n.612-4C>A)	gnomAD v4
17	g.63971258G>A	CA2639325909	SCN4A	c.612-5C>T (n.612-5C>T)	gnomAD v4
17	g.63971258G=	CA2270175257	SCN4A	c.612-5C= (n.612-5C=)
17	g.63971258G>T	CA626863621	SCN4A	c.612-5C>A (n.612-5C>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63971259T>A	CA2639325913	SCN4A	c.612-6A>T (n.612-6A>T)	gnomAD v4
17	g.63971259T>C	CA2639325915	SCN4A	c.612-6A>G (n.612-6A>G)	gnomAD v4
17	g.63971259T>G	CA913013320	SCN4A	c.612-6A>C (n.612-6A>C)	gnomAD v4
17	g.63971260A=	CA2270175258	SCN4A	c.612-7T= (n.612-7T=)
17	g.63971260A>C	CA2639325922	SCN4A	c.612-7T>G (n.612-7T>G)	gnomAD v4
17	g.63971260A>G	CA774008090	SCN4A	c.612-7T>C (n.612-7T>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63971260A>T	CA985437686	SCN4A	c.612-7T>A (n.612-7T>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63971266_63971274del	CA2639325921	SCN4A	c.612-15_612-7del (n.612-15_612-7del)	gnomAD v4
17	g.63971261G>A	CA2270175260	SCN4A	c.612-8C>T (n.612-8C>T)	ClinVar dbSNP gnomAD v4
17	g.63971261G=	CA2270175259	SCN4A	c.612-8C= (n.612-8C=)
17	g.63971261G>T	CA2639325927	SCN4A	c.612-8C>A (n.612-8C>A)	gnomAD v4
17	g.63971265dup	CA2639325932	SCN4A	c.612-8dup (n.612-8dup)	gnomAD v4
17	g.63971265del	CA2576356173	SCN4A	c.612-8del (n.612-8del)	dbSNP gnomAD v4
17	g.63971269_63971278del	CA2576356174	SCN4A	c.612-17_612-8del (n.612-17_612-8del)	gnomAD v4
17	g.63971265_63971280del	CA2639325959	SCN4A	c.612-23_612-8del (n.612-23_612-8del)	gnomAD v4
17	g.63971264_63971280del	CA2576356175	SCN4A	c.612-24_612-8del (n.612-24_612-8del)	gnomAD v4
17	g.63971262G>A	CA8710091	SCN4A	c.612-9C>T (n.612-9C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971262G>C	CA292972580	SCN4A	c.612-9C>G (n.612-9C>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971262G=	CA2270175261	SCN4A	c.612-9C= (n.612-9C=)
17	g.63971262G>T	CA774008093	SCN4A	c.612-9C>A (n.612-9C>A)	dbSNP gnomAD v3 gnomAD v4
17	g.63971269_63971300del	CA2639325963	SCN4A	c.612-40_612-9del (n.612-40_612-9del)	gnomAD v4
17	g.63971263G>A	CA2576356176	SCN4A	c.612-10C>T (n.612-10C>T)	gnomAD v4
17	g.63971263G>C	CA292972582	SCN4A	c.612-10C>G (n.612-10C>G)	dbSNP gnomAD v4
17	g.63971263G=	CA2270175262	SCN4A	c.612-10C= (n.612-10C=)
17	g.63971263G>T	CA2639325979	SCN4A	c.612-10C>A (n.612-10C>A)	gnomAD v4
17	g.63971269_63971304del	CA2639325975	SCN4A	c.612-45_612-10del (n.612-45_612-10del)	gnomAD v4
17	g.63971264G>A	CA8710092	SCN4A	c.612-11C>T (n.612-11C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971264G=	CA2270175263	SCN4A	c.612-11C= (n.612-11C=)
17	g.63971264G>T	CA2639325992	SCN4A	c.612-11C>A (n.612-11C>A)	gnomAD v4
17	g.63971265G>A	CA2639325995	SCN4A	c.612-12C>T (n.612-12C>T)	gnomAD v4
17	g.63971265G=	CA2270175264	SCN4A	c.612-12C= (n.612-12C=)
17	g.63971265G>T	CA8710093	SCN4A	c.612-12C>A (n.612-12C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971266T>C	CA2639326001	SCN4A	c.612-13A>G (n.612-13A>G)	gnomAD v4
17	g.63971266T>G	CA626863624	SCN4A	c.612-13A>C (n.612-13A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971266T=	CA2270175265	SCN4A	c.612-13A= (n.612-13A=)
17	g.63971267G>A	CA2639326013	SCN4A	c.612-14C>T (n.612-14C>T)	gnomAD v4
17	g.63971267G>C	CA2270175267	SCN4A	c.612-14C>G (n.612-14C>G)	dbSNP
17	g.63971267G=	CA2270175266	SCN4A	c.612-14C= (n.612-14C=)
17	g.63971267G>T	CA626863625	SCN4A	c.612-14C>A (n.612-14C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.63971268del	CA2639326005	SCN4A	c.612-14del (n.612-14del)	gnomAD v4
17	g.63971269_63971275del	CA2639326007	SCN4A	c.612-20_612-14del (n.612-20_612-14del)	gnomAD v4
17	g.63971269_63971297del	CA2639326010	SCN4A	c.612-42_612-14del (n.612-42_612-14del)	gnomAD v4
17	g.63971268G>A	CA2639326018	SCN4A	c.612-15C>T (n.612-15C>T)	gnomAD v4
17	g.63971268G=	CA2270175268	SCN4A	c.612-15C= (n.612-15C=)
17	g.63971268G>T	CA626863626	SCN4A	c.612-15C>A (n.612-15C>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63971268_63971269delinsGA	CA2270175269	SCN4A	c.612-16_612-15delinsTC (n.612-16_612-15delinsTC)
17	g.63971269del	CA2270175271	SCN4A	c.612-16del (n.612-16del)	dbSNP gnomAD v4
17	g.63971269A=	CA2270175270	SCN4A	c.612-16T= (n.612-16T=)
17	g.63971269A>C	CA2639326032	SCN4A	c.612-16T>G (n.612-16T>G)	gnomAD v4
17	g.63971269A>G	CA626863627	SCN4A	c.612-16T>C (n.612-16T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971269A>T	CA985437693	SCN4A	c.612-16T>A (n.612-16T>A)	dbSNP gnomAD v3 gnomAD v4
17	g.63971269_63971270delinsAG	CA2270175272	SCN4A	c.612-17_612-16delinsCT (n.612-17_612-16delinsCT)
17	g.63971272_63971308del	CA2639326027	SCN4A	c.612-52_612-16del (n.612-52_612-16del)	gnomAD v4
17	g.63971270G>A	CA626863630	SCN4A	c.612-17C>T (n.612-17C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63971270G>C	CA2639326041	SCN4A	c.612-17C>G (n.612-17C>G)	gnomAD v4
17	g.63971270G=	CA2270175273	SCN4A	c.612-17C= (n.612-17C=)
17	g.63971270G>T	CA774008113	SCN4A	c.612-17C>A (n.612-17C>A)	dbSNP gnomAD v4
17	g.63971275del	CA8710094	SCN4A	c.612-17del (n.612-17del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971274_63971280del	CA2639326046	SCN4A	c.612-23_612-17del (n.612-23_612-17del)	gnomAD v4
17	g.63971271_63971280del	CA2576356177	SCN4A	c.612-26_612-17del (n.612-26_612-17del)	gnomAD v4
17	g.63971271G>A	CA2639326055	SCN4A	c.612-18C>T (n.612-18C>T)	ClinVar gnomAD v4
17	g.63971271G>C	CA626863634	SCN4A	c.612-18C>G (n.612-18C>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971271G=	CA2270175274	SCN4A	c.612-18C= (n.612-18C=)
17	g.63971271G>T	CA8710095	SCN4A	c.612-18C>A (n.612-18C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971272G>A	CA626863636	SCN4A	c.612-19C>T (n.612-19C>T)	dbSNP gnomAD v2 gnomAD v4
17	g.63971272G>C	CA8710096	SCN4A	c.612-19C>G (n.612-19C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971272G=	CA2270175275	SCN4A	c.612-19C= (n.612-19C=)
17	g.63971272G>T	CA626863637	SCN4A	c.612-19C>A (n.612-19C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971276_63971280del	CA2639326065	SCN4A	c.612-23_612-19del (n.612-23_612-19del)	gnomAD v4
17	g.63971273G>A	CA8710097	SCN4A	c.612-20C>T (n.612-20C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971273G>C	CA774008134	SCN4A	c.612-20C>G (n.612-20C>G)	dbSNP
17	g.63971273G=	CA2270175276	SCN4A	c.612-20C= (n.612-20C=)
17	g.63971273G>T	CA2639326081	SCN4A	c.612-20C>A (n.612-20C>A)	gnomAD v4
17	g.63971279_63971304del	CA2639326075	SCN4A	c.612-45_612-20del (n.612-45_612-20del)	gnomAD v4
17	g.63971274G>A	CA626863639	SCN4A	c.612-21C>T (n.612-21C>T)	dbSNP gnomAD v2 gnomAD v4
17	g.63971274G>C	CA985437709	SCN4A	c.612-21C>G (n.612-21C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.63971274G=	CA2270175277	SCN4A	c.612-21C= (n.612-21C=)
17	g.63971274G>T	CA8710098	SCN4A	c.612-21C>A (n.612-21C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971275G>A	CA292972589	SCN4A	c.612-22C>T (n.612-22C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971275G>C	CA2639326094	SCN4A	c.612-22C>G (n.612-22C>G)	gnomAD v4
17	g.63971275G=	CA2270175278	SCN4A	c.612-22C= (n.612-22C=)
17	g.63971275G>T	CA292972591	SCN4A	c.612-22C>A (n.612-22C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971276del	CA2639326096	SCN4A	c.612-23del (n.612-23del)	gnomAD v4
17	g.63971276T>C	CA2639326099	SCN4A	c.612-23A>G (n.612-23A>G)	gnomAD v4
17	g.63971276T>G	CA774008141	SCN4A	c.612-23A>C (n.612-23A>C)	dbSNP gnomAD v3 gnomAD v4
17	g.63971276T=	CA2270175279	SCN4A	c.612-23A= (n.612-23A=)
17	g.63971277G>A	CA2639326106	SCN4A	c.612-24C>T (n.612-24C>T)	gnomAD v4
17	g.63971277G>T	CA2576356179	SCN4A	c.612-24C>A (n.612-24C>A)	gnomAD v4
17	g.63971280del	CA2576356178	SCN4A	c.612-24del (n.612-24del)	gnomAD v4
17	g.63971278G>A	CA2639326110	SCN4A	c.612-25C>T (n.612-25C>T)	gnomAD v4
17	g.63971278G>C	CA292972593	SCN4A	c.612-25C>G (n.612-25C>G)	dbSNP gnomAD v2 gnomAD v4
17	g.63971278G=	CA2270175280	SCN4A	c.612-25C= (n.612-25C=)
17	g.63971278G>T	CA2639326117	SCN4A	c.612-25C>A (n.612-25C>A)	gnomAD v4
17	g.63971278_63971279insCAGGTGCACACCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGTCTTGTT	CA8710099	SCN4A	c.612-26_612-25insAACAAGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGTGCACCTG (n.612-26_612-25insAACAAGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGTGCACCTG)	ExAC
17	g.63971279G>A	CA2639326120	SCN4A	c.612-26C>T (n.612-26C>T)	gnomAD v4
17	g.63971279G>T	CA2576356180	SCN4A	c.612-26C>A (n.612-26C>A)	gnomAD v4
17	g.63971280G>A	CA2639326167	SCN4A	c.612-27C>T (n.612-27C>T)	gnomAD v4
17	g.63971280G>C	CA2639326163	SCN4A	c.612-27C>G (n.612-27C>G)	gnomAD v4
17	g.63971280G>T	CA2639326159	SCN4A	c.612-27C>A (n.612-27C>A)	gnomAD v4
17	g.63971281A=	CA2270175281	SCN4A	c.612-28T= (n.612-28T=)
17	g.63971281A>C	CA8710100	SCN4A	c.612-28T>G (n.612-28T>G)	dbSNP ExAC gnomAD v4
17	g.63971282C>A	CA2639326177	SCN4A	c.612-29G>T (n.612-29G>T)	gnomAD v4
17	g.63971282C=	CA2270175282	SCN4A	c.612-29G= (n.612-29G=)
17	g.63971282C>G	CA985437714	SCN4A	c.612-29G>C (n.612-29G>C)	dbSNP gnomAD v3 gnomAD v4
17	g.63971283T>G	CA2576356181	SCN4A	c.612-30A>C (n.612-30A>C)	gnomAD v4
17	g.63971283dup	CA626863643	SCN4A	c.612-30dup (n.612-30dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971284G=	CA2270175283	SCN4A	c.612-31C= (n.612-31C=)
17	g.63971284G>T	CA626863644	SCN4A	c.612-31C>A (n.612-31C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.63971285T>A	CA2639326186	SCN4A	c.612-32A>T (n.612-32A>T)	gnomAD v4
17	g.63971285T>C	CA2639326190	SCN4A	c.612-32A>G (n.612-32A>G)	gnomAD v4
17	g.63971285T>G	CA2639326196	SCN4A	c.612-32A>C (n.612-32A>C)	gnomAD v4
17	g.63971286C>A	CA2639326201	SCN4A	c.612-33G>T (n.612-33G>T)	gnomAD v4
17	g.63971286C>T	CA2639326202	SCN4A	c.612-33G>A (n.612-33G>A)	gnomAD v4
17	g.63971287A>G	CA2639326204	SCN4A	c.612-34T>C (n.612-34T>C)	gnomAD v4
17	g.63971287A>T	CA2639326208	SCN4A	c.612-34T>A (n.612-34T>A)	gnomAD v4
17	g.63971288G>T	CA2639326210	SCN4A	c.612-35C>A (n.612-35C>A)	gnomAD v4
17	g.63971289del	CA2576356182	SCN4A	c.612-36del (n.612-36del)
17	g.63971289A>C	CA2639326216	SCN4A	c.612-36T>G (n.612-36T>G)	gnomAD v4
17	g.63971289A>G	CA2639326212	SCN4A	c.612-36T>C (n.612-36T>C)	gnomAD v4
17	g.63971289A>T	CA2639326214	SCN4A	c.612-36T>A (n.612-36T>A)	gnomAD v4
17	g.63971290G>A	CA2639326221	SCN4A	c.612-37C>T (n.612-37C>T)	gnomAD v4
17	g.63971290G>C	CA2639326223	SCN4A	c.612-37C>G (n.612-37C>G)	gnomAD v4
17	g.63971290G>T	CA2639326226	SCN4A	c.612-37C>A (n.612-37C>A)	gnomAD v4
17	g.63971292C>A	CA2639326230	SCN4A	c.612-39G>T (n.612-39G>T)	gnomAD v4
17	g.63971292C>G	CA2639326231	SCN4A	c.612-39G>C (n.612-39G>C)	gnomAD v4
17	g.63971292C>T	CA2639326232	SCN4A	c.612-39G>A (n.612-39G>A)	gnomAD v4
17	g.63971293T>G	CA626863646	SCN4A	c.612-40A>C (n.612-40A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971293T=	CA2270175284	SCN4A	c.612-40A= (n.612-40A=)
17	g.63971294G>A	CA626863648	SCN4A	c.612-41C>T (n.612-41C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971294G=	CA2270175285	SCN4A	c.612-41C= (n.612-41C=)
17	g.63971294G>T	CA626863647	SCN4A	c.612-41C>A (n.612-41C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.63971297dup	CA2576356184	SCN4A	c.612-41dup (n.612-41dup)
17	g.63971297del	CA2576356183	SCN4A	c.612-41del (n.612-41del)	gnomAD v4
17	g.63971295G>A	CA2639326246	SCN4A	c.612-42C>T (n.612-42C>T)	gnomAD v4
17	g.63971295G>T	CA2576356185	SCN4A	c.612-42C>A (n.612-42C>A)	gnomAD v4
17	g.63971296G>A	CA2639326248	SCN4A	c.612-43C>T (n.612-43C>T)	gnomAD v4
17	g.63971296G>T	CA2639326251	SCN4A	c.612-43C>A (n.612-43C>A)	gnomAD v4
17	g.63971297G>A	CA626863650	SCN4A	c.612-44C>T (n.612-44C>T)	dbSNP gnomAD v2 gnomAD v4
17	g.63971297G=	CA2270175286	SCN4A	c.612-44C= (n.612-44C=)
17	g.63971297G>T	CA774008148	SCN4A	c.612-44C>A (n.612-44C>A)	dbSNP gnomAD v4
17	g.63971298T>A	CA2810128061	SCN4A	c.612-45A>T (n.612-45A>T)
17	g.63971298T>C	CA292972595	SCN4A	c.612-45A>G (n.612-45A>G)	dbSNP gnomAD v4
17	g.63971298T>G	CA985437726	SCN4A	c.612-45A>C (n.612-45A>C)	gnomAD v3 gnomAD v4
17	g.63971298T=	CA2270175287	SCN4A	c.612-45A= (n.612-45A=)
17	g.63971299G>A	CA2576356186	SCN4A	c.612-46C>T (n.612-46C>T)
17	g.63971299G>T	CA2639326261	SCN4A	c.612-46C>A (n.612-46C>A)	gnomAD v4
17	g.63971300G>T	CA2639326288	SCN4A	c.612-47C>A (n.612-47C>A)	gnomAD v4
17	g.63971301G>A	CA2639326289	SCN4A	c.612-48C>T (n.612-48C>T)	gnomAD v4
17	g.63971301G>T	CA2576356187	SCN4A	c.612-48C>A (n.612-48C>A)	gnomAD v4

Number of alleles fetched