Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63941803_63941814delinsTATGACCAGGAG	CA2695226829	SCN4A	c.4468_4479delinsCTCCTGGTCATA (p.Phe1490_Met1493delinsLeuLeuValIle)
17	g.63941806G>A	CA501348267	SCN4A	c.4476C>T (p.Val1492=)	gnomAD v4
17	g.63941806G>C	CA501348268	SCN4A	c.4476C>G (p.Val1492=)
17	g.63941806G>T	CA501348270	SCN4A	c.4476C>A (p.Val1492=)
17	g.63941807A>C	CA400615946	SCN4A	c.4475T>G (p.Val1492Gly)
17	g.63941807A>G	CA400615947	SCN4A	c.4475T>C (p.Val1492Ala)
17	g.63941807A>T	CA400615948	SCN4A	c.4475T>A (p.Val1492Asp)
17	g.63941808C>A	CA400615949	SCN4A	c.4474G>T (p.Val1492Phe)
17	g.63941808C>G	CA400615950	SCN4A	c.4474G>C (p.Val1492Leu)
17	g.63941808C>T	CA400615951	SCN4A	c.4474G>A (p.Val1492Ile)	gnomAD v4
17	g.63941809C>A	CA501348272	SCN4A	c.4473G>T (p.Leu1491=)
17	g.63941809C=	CA2270161111	SCN4A	c.4473G= (p.Leu1491=)
17	g.63941809C>G	CA292957151	SCN4A	c.4473G>C (p.Leu1491=)	dbSNP gnomAD v4
17	g.63941809C>T	CA501348273	SCN4A	c.4473G>A (p.Leu1491=)
17	g.63941810del	CA2580094696	SCN4A	c.4472del (p.Leu1491ArgfsTer?)	ClinVar
17	g.63941810A>C	CA400615952	SCN4A	c.4472T>G (p.Leu1491Arg)	gnomAD v4
17	g.63941810A>G	CA400615953	SCN4A	c.4472T>C (p.Leu1491Pro)
17	g.63941810A>T	CA400615954	SCN4A	c.4472T>A (p.Leu1491Gln)
17	g.63941811G>A	CA501348278	SCN4A	c.4471C>T (p.Leu1491=)
17	g.63941811G>C	CA400615955	SCN4A	c.4471C>G (p.Leu1491Val)	gnomAD v4
17	g.63941811G=	CA2270161112	SCN4A	c.4471C= (p.Leu1491=)
17	g.63941811G>T	CA400615956	SCN4A	c.4471C>A (p.Leu1491Met)	dbSNP gnomAD v3 gnomAD v4
17	g.63941812G>A	CA501348279	SCN4A	c.4470C>T (p.Phe1490=)
17	g.63941812G>C	CA400615957	SCN4A	c.4470C>G (p.Phe1490Leu)
17	g.63941812G>T	CA400615958	SCN4A	c.4470C>A (p.Phe1490Leu)
17	g.63941813A>C	CA400615959	SCN4A	c.4469T>G (p.Phe1490Cys)
17	g.63941813A>G	CA400615960	SCN4A	c.4469T>C (p.Phe1490Ser)
17	g.63941813A>T	CA400615961	SCN4A	c.4469T>A (p.Phe1490Tyr)
17	g.63941814A=	CA2270161113	SCN4A	c.4468T= (p.Phe1490=)
17	g.63941814A>C	CA400615962	SCN4A	c.4468T>G (p.Phe1490Val)
17	g.63941814A>G	CA341675	SCN4A	c.4468T>C (p.Phe1490Leu)	dbSNP
17	g.63941814A>T	CA400615963	SCN4A	c.4468T>A (p.Phe1490Ile)
17	g.63941815G>A	CA8708954	SCN4A	c.4467C>T (p.Leu1489=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941815G>C	CA501348286	SCN4A	c.4467C>G (p.Leu1489=)
17	g.63941815G=	CA2270161114	SCN4A	c.4467C= (p.Leu1489=)
17	g.63941815G>T	CA501348285	SCN4A	c.4467C>A (p.Leu1489=)
17	g.63941822_63941824del	CA2639307323	SCN4A	c.4465_4467del (p.Leu1489del)	gnomAD v4
17	g.63941816A>C	CA400615964	SCN4A	c.4466T>G (p.Leu1489Arg)
17	g.63941816A>G	CA400615965	SCN4A	c.4466T>C (p.Leu1489Pro)
17	g.63941816A>T	CA400615966	SCN4A	c.4466T>A (p.Leu1489His)
17	g.63941817G>A	CA400615968	SCN4A	c.4465C>T (p.Leu1489Phe)	ClinVar dbSNP gnomAD v4
17	g.63941817G>C	CA400615969	SCN4A	c.4465C>G (p.Leu1489Val)
17	g.63941817G=	CA2270161115	SCN4A	c.4465C= (p.Leu1489=)
17	g.63941817G>T	CA400615967	SCN4A	c.4465C>A (p.Leu1489Ile)
17	g.63941818G>A	CA8708955	SCN4A	c.4464C>T (p.Leu1488=)	ClinVar dbSNP ExAC gnomAD v2
17	g.63941818G>C	CA292957157	SCN4A	c.4464C>G (p.Leu1488=)	dbSNP gnomAD v4
17	g.63941818G=	CA2270161116	SCN4A	c.4464C= (p.Leu1488=)
17	g.63941818G>T	CA501348292	SCN4A	c.4464C>A (p.Leu1488=)
17	g.63941819A=	CA2270161117	SCN4A	c.4463T= (p.Leu1488=)
17	g.63941819A>C	CA400615970	SCN4A	c.4463T>G (p.Leu1488Arg)
17	g.63941819A>G	CA16607427	SCN4A	c.4463T>C (p.Leu1488Pro)	ClinVar dbSNP
17	g.63941819A>T	CA400615971	SCN4A	c.4463T>A (p.Leu1488His)	gnomAD v4
17	g.63941820G>A	CA400615972	SCN4A	c.4462C>T (p.Leu1488Phe)
17	g.63941820G>C	CA400615973	SCN4A	c.4462C>G (p.Leu1488Val)
17	g.63941820G>T	CA400615974	SCN4A	c.4462C>A (p.Leu1488Ile)
17	g.63941821del	CA2810127902	SCN4A	c.4462del (p.Leu1488SerfsTer?)
17	g.63941821G>A	CA501348296	SCN4A	c.4461C>T (p.Leu1487=)	COSMIC
17	g.63941821G>C	CA501348297	SCN4A	c.4461C>G (p.Leu1487=)
17	g.63941821G>T	CA501348298	SCN4A	c.4461C>A (p.Leu1487=)
17	g.63941822A>C	CA400615975	SCN4A	c.4460T>G (p.Leu1487Arg)
17	g.63941822A>G	CA400615976	SCN4A	c.4460T>C (p.Leu1487Pro)
17	g.63941822A>T	CA400615977	SCN4A	c.4460T>A (p.Leu1487His)
17	g.63941823G>A	CA400615978	SCN4A	c.4459C>T (p.Leu1487Phe)	ClinVar dbSNP gnomAD v4
17	g.63941823G>C	CA400615979	SCN4A	c.4459C>G (p.Leu1487Val)
17	g.63941823G=	CA2270161118	SCN4A	c.4459C= (p.Leu1487=)
17	g.63941823G>T	CA400615980	SCN4A	c.4459C>A (p.Leu1487Ile)
17	g.63941824G>A	CA292957162	SCN4A	c.4458C>T (p.Gly1486=)	ClinVar dbSNP gnomAD v4
17	g.63941824G>C	CA501348302	SCN4A	c.4458C>G (p.Gly1486=)
17	g.63941824G=	CA2270161119	SCN4A	c.4458C= (p.Gly1486=)
17	g.63941824G>T	CA501348303	SCN4A	c.4458C>A (p.Gly1486=)
17	g.63941825C>A	CA400615981	SCN4A	c.4457G>T (p.Gly1486Val)	ClinVar dbSNP
17	g.63941825C=	CA2270161120	SCN4A	c.4457G= (p.Gly1486=)
17	g.63941825C>G	CA400615982	SCN4A	c.4457G>C (p.Gly1486Ala)
17	g.63941825C>T	CA400615983	SCN4A	c.4457G>A (p.Gly1486Asp)	dbSNP
17	g.63941826C>A	CA400615984	SCN4A	c.4456G>T (p.Gly1486Cys)
17	g.63941826C>G	CA400615985	SCN4A	c.4456G>C (p.Gly1486Arg)
17	g.63941826C>T	CA400615986	SCN4A	c.4456G>A (p.Gly1486Ser)	ClinVar gnomAD v4
17	g.63941827G>A	CA8708956	SCN4A	c.4455C>T (p.Ile1485=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941827G>C	CA400615987	SCN4A	c.4455C>G (p.Ile1485Met)	dbSNP
17	g.63941827G=	CA2270161121	SCN4A	c.4455C= (p.Ile1485=)
17	g.63941827G>T	CA501348306	SCN4A	c.4455C>A (p.Ile1485=)
17	g.63941828A>C	CA400615988	SCN4A	c.4454T>G (p.Ile1485Ser)
17	g.63941828A>G	CA400615989	SCN4A	c.4454T>C (p.Ile1485Thr)
17	g.63941828A>T	CA400615990	SCN4A	c.4454T>A (p.Ile1485Asn)
17	g.63941829T>A	CA400615991	SCN4A	c.4453A>T (p.Ile1485Phe)
17	g.63941829T>C	CA400615992	SCN4A	c.4453A>G (p.Ile1485Val)
17	g.63941829T>G	CA400615993	SCN4A	c.4453A>C (p.Ile1485Leu)
17	g.63941830G>A	CA8708957	SCN4A	c.4452C>T (p.Asn1484=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941830G>C	CA400615995	SCN4A	c.4452C>G (p.Asn1484Lys)
17	g.63941830G=	CA2270161122	SCN4A	c.4452C= (p.Asn1484=)
17	g.63941830G>T	CA400615994	SCN4A	c.4452C>A (p.Asn1484Lys)
17	g.63941831T>A	CA400615997	SCN4A	c.4451A>T (p.Asn1484Ile)
17	g.63941831T>C	CA400615996	SCN4A	c.4451A>G (p.Asn1484Ser)
17	g.63941831T>G	CA400615998	SCN4A	c.4451A>C (p.Asn1484Thr)
17	g.63941832T>A	CA400615999	SCN4A	c.4450A>T (p.Asn1484Tyr)
17	g.63941832T>C	CA400616001	SCN4A	c.4450A>G (p.Asn1484Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.63941832T>G	CA400616000	SCN4A	c.4450A>C (p.Asn1484His)
17	g.63941832T=	CA2270161123	SCN4A	c.4450A= (p.Asn1484=)
17	g.63941833G>A	CA501348311	SCN4A	c.4449C>T (p.Phe1483=)
17	g.63941833G>C	CA400616002	SCN4A	c.4449C>G (p.Phe1483Leu)	dbSNP
17	g.63941833G>T	CA400616003	SCN4A	c.4449C>A (p.Phe1483Leu)
17	g.63941834A>C	CA400616004	SCN4A	c.4448T>G (p.Phe1483Cys)
17	g.63941834A>G	CA400616005	SCN4A	c.4448T>C (p.Phe1483Ser)
17	g.63941834A>T	CA400616006	SCN4A	c.4448T>A (p.Phe1483Tyr)
17	g.63941835A>C	CA400616007	SCN4A	c.4447T>G (p.Phe1483Val)
17	g.63941835A>G	CA400616008	SCN4A	c.4447T>C (p.Phe1483Leu)
17	g.63941835A>T	CA400616009	SCN4A	c.4447T>A (p.Phe1483Ile)
17	g.63941836G>A	CA501348320	SCN4A	c.4446C>T (p.Leu1482=)	dbSNP
17	g.63941836G>C	CA501348318	SCN4A	c.4446C>G (p.Leu1482=)
17	g.63941836G=	CA2270161124	SCN4A	c.4446C= (p.Leu1482=)
17	g.63941836G>T	CA501348317	SCN4A	c.4446C>A (p.Leu1482=)
17	g.63941837A=	CA2270161125	SCN4A	c.4445T= (p.Leu1482=)
17	g.63941837A>C	CA400616010	SCN4A	c.4445T>G (p.Leu1482Arg)
17	g.63941837A>G	CA400616011	SCN4A	c.4445T>C (p.Leu1482Pro)
17	g.63941837A>T	CA400616012	SCN4A	c.4445T>A (p.Leu1482His)
17	g.63941837_63941838insTGACTTT	CA8708959	SCN4A	c.4444_4445insAAAGTCA (p.Leu1482GlnfsTer?)	dbSNP ExAC gnomAD v2
17	g.63941837_63941838insTGACTTTGAGAT	CA8708958	SCN4A	c.4444_4445insATCTCAAAGTCA (p.Leu1482delinsHisLeuLysValIle)	dbSNP ExAC gnomAD v2
17	g.63941838G>A	CA400616013	SCN4A	c.4444C>T (p.Leu1482Phe)	dbSNP gnomAD v2
17	g.63941838G>C	CA400616014	SCN4A	c.4444C>G (p.Leu1482Val)	dbSNP
17	g.63941838G=	CA2270161126	SCN4A	c.4444C= (p.Leu1482=)
17	g.63941838G>T	CA8708960	SCN4A	c.4444C>A (p.Leu1482Ile)	dbSNP ExAC gnomAD v2
17	g.63941839G>A	CA292957207	SCN4A	c.4443C>T (p.Ala1481=)	dbSNP
17	g.63941839G>C	CA501348328	SCN4A	c.4443C>G (p.Ala1481=)
17	g.63941839G=	CA2270161127	SCN4A	c.4443C= (p.Ala1481=)
17	g.63941839G>T	CA501348329	SCN4A	c.4443C>A (p.Ala1481=)
17	g.63941840G>A	CA8708961	SCN4A	c.4442C>T (p.Ala1481Val)	dbSNP ExAC gnomAD v2
17	g.63941840G>C	CA400616015	SCN4A	c.4442C>G (p.Ala1481Gly)
17	g.63941840G=	CA2270161128	SCN4A	c.4442C= (p.Ala1481=)
17	g.63941840G>T	CA400616016	SCN4A	c.4442C>A (p.Ala1481Asp)	ClinVar dbSNP
17	g.63941841C>A	CA400616017	SCN4A	c.4441G>T (p.Ala1481Ser)
17	g.63941841C=	CA2270161129	SCN4A	c.4441G= (p.Ala1481=)
17	g.63941841C>G	CA400616018	SCN4A	c.4441G>C (p.Ala1481Pro)
17	g.63941841C>T	CA400616019	SCN4A	c.4441G>A (p.Ala1481Thr)
17	g.63941841_63941842insTTTG	CA8708962	SCN4A	c.4440_4441insCAAA (p.Ala1481GlnfsTer?)	dbSNP ExAC gnomAD v2
17	g.63941842A=	CA2270161130	SCN4A	c.4440T= (p.Pro1480=)
17	g.63941842A>C	CA501348335	SCN4A	c.4440T>G (p.Pro1480=)	dbSNP
17	g.63941842A>G	CA501348336	SCN4A	c.4440T>C (p.Pro1480=)	dbSNP
17	g.63941842A>T	CA501348338	SCN4A	c.4440T>A (p.Pro1480=)
17	g.63941843G>A	CA400616020	SCN4A	c.4439C>T (p.Pro1480Leu)
17	g.63941843G>C	CA400616021	SCN4A	c.4439C>G (p.Pro1480Arg)
17	g.63941843G=	CA2270161131	SCN4A	c.4439C= (p.Pro1480=)
17	g.63941843G>T	CA400616022	SCN4A	c.4439C>A (p.Pro1480His)	dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.63941844G>A	CA400616025	SCN4A	c.4438C>T (p.Pro1480Ser)
17	g.63941844G>C	CA400616024	SCN4A	c.4438C>G (p.Pro1480Ala)
17	g.63941844G>T	CA400616023	SCN4A	c.4438C>A (p.Pro1480Thr)
17	g.63941845C>A	CA501348343	SCN4A	c.4437G>T (p.Leu1479=)
17	g.63941845C>G	CA501348345	SCN4A	c.4437G>C (p.Leu1479=)
17	g.63941845C>T	CA501348346	SCN4A	c.4437G>A (p.Leu1479=)
17	g.63941846A>C	CA400616026	SCN4A	c.4436T>G (p.Leu1479Arg)
17	g.63941846A>G	CA400616027	SCN4A	c.4436T>C (p.Leu1479Pro)
17	g.63941846A>T	CA400616028	SCN4A	c.4436T>A (p.Leu1479Gln)
17	g.63941847G>A	CA501348347	SCN4A	c.4435C>T (p.Leu1479=)
17	g.63941847G>C	CA400616029	SCN4A	c.4435C>G (p.Leu1479Val)
17	g.63941847G>T	CA400616030	SCN4A	c.4435C>A (p.Leu1479Met)	ClinVar gnomAD v4
17	g.63941848C>A	CA501348348	SCN4A	c.4434G>T (p.Ser1478=)	gnomAD v4
17	g.63941848C=	CA2270161132	SCN4A	c.4434G= (p.Ser1478=)
17	g.63941848C>G	CA292957219	SCN4A	c.4434G>C (p.Ser1478=)	ClinVar dbSNP gnomAD v4
17	g.63941848C>T	CA242396	SCN4A	c.4434G>A (p.Ser1478=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941849G>A	CA8708963	SCN4A	c.4433C>T (p.Ser1478Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941849G>C	CA400616031	SCN4A	c.4433C>G (p.Ser1478Trp)
17	g.63941849G=	CA2270161133	SCN4A	c.4433C= (p.Ser1478=)
17	g.63941849G>T	CA400616032	SCN4A	c.4433C>A (p.Ser1478Ter)	dbSNP
17	g.63941850A=	CA2270161134	SCN4A	c.4432T= (p.Ser1478=)
17	g.63941850A>C	CA400616033	SCN4A	c.4432T>G (p.Ser1478Ala)
17	g.63941850A>G	CA400616034	SCN4A	c.4432T>C (p.Ser1478Pro)	dbSNP gnomAD v4
17	g.63941850A>T	CA400616035	SCN4A	c.4432T>A (p.Ser1478Thr)
17	g.63941851C>A	CA400616038	SCN4A	c.4431G>T (p.Met1477Ile)
17	g.63941851C>G	CA400616037	SCN4A	c.4431G>C (p.Met1477Ile)
17	g.63941851C>T	CA400616036	SCN4A	c.4431G>A (p.Met1477Ile)	gnomAD v4
17	g.63941852A>C	CA400616039	SCN4A	c.4430T>G (p.Met1477Arg)
17	g.63941852A>G	CA400616040	SCN4A	c.4430T>C (p.Met1477Thr)	ClinVar dbSNP
17	g.63941852A>T	CA400616041	SCN4A	c.4430T>A (p.Met1477Lys)
17	g.63941853T>A	CA400616042	SCN4A	c.4429A>T (p.Met1477Leu)	gnomAD v4
17	g.63941853T>C	CA400616043	SCN4A	c.4429A>G (p.Met1477Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941853T>G	CA400616044	SCN4A	c.4429A>C (p.Met1477Leu)
17	g.63941853T=	CA2270161135	SCN4A	c.4429A= (p.Met1477=)
17	g.63941854C>A	CA400616045	SCN4A	c.4428G>T (p.Met1476Ile)
17	g.63941854C=	CA2270161136	SCN4A	c.4428G= (p.Met1476=)
17	g.63941854C>G	CA400616046	SCN4A	c.4428G>C (p.Met1476Ile)
17	g.63941854C>T	CA117853	SCN4A	c.4428G>A (p.Met1476Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63941855A=	CA2270161137	SCN4A	c.4427T= (p.Met1476=)
17	g.63941855A>C	CA400616047	SCN4A	c.4427T>G (p.Met1476Arg)
17	g.63941855A>G	CA16620554	SCN4A	c.4427T>C (p.Met1476Thr)	ClinVar dbSNP
17	g.63941855A>T	CA400616048	SCN4A	c.4427T>A (p.Met1476Lys)
17	g.63941856T>A	CA400616051	SCN4A	c.4426A>T (p.Met1476Leu)
17	g.63941856T>C	CA400616050	SCN4A	c.4426A>G (p.Met1476Val)	ClinVar dbSNP
17	g.63941856T>G	CA400616049	SCN4A	c.4426A>C (p.Met1476Leu)
17	g.63941856T=	CA2270161138	SCN4A	c.4426A= (p.Met1476=)
17	g.63941857G>A	CA501348438	SCN4A	c.4425C>T (p.Leu1475=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941857G>C	CA501348440	SCN4A	c.4425C>G (p.Leu1475=)
17	g.63941857G=	CA2270161139	SCN4A	c.4425C= (p.Leu1475=)
17	g.63941857G>T	CA501348439	SCN4A	c.4425C>A (p.Leu1475=)
17	g.63941858A>C	CA400616052	SCN4A	c.4424T>G (p.Leu1475Arg)
17	g.63941858A>G	CA400616054	SCN4A	c.4424T>C (p.Leu1475Pro)	ClinVar
17	g.63941858A>T	CA400616053	SCN4A	c.4424T>A (p.Leu1475His)
17	g.63941859G>A	CA400616055	SCN4A	c.4423C>T (p.Leu1475Phe)	dbSNP gnomAD v3 gnomAD v4
17	g.63941859G>C	CA400616056	SCN4A	c.4423C>G (p.Leu1475Val)
17	g.63941859G=	CA2270161140	SCN4A	c.4423C= (p.Leu1475=)
17	g.63941859G>T	CA400616057	SCN4A	c.4423C>A (p.Leu1475Ile)
17	g.63941860G>A	CA501348441	SCN4A	c.4422C>T (p.Ala1474=)	gnomAD v4
17	g.63941860G>C	CA501348442	SCN4A	c.4422C>G (p.Ala1474=)
17	g.63941860G>T	CA501348443	SCN4A	c.4422C>A (p.Ala1474=)
17	g.63941861G>A	CA400616058	SCN4A	c.4421C>T (p.Ala1474Val)
17	g.63941861G>C	CA400616059	SCN4A	c.4421C>G (p.Ala1474Gly)
17	g.63941861G>T	CA400616060	SCN4A	c.4421C>A (p.Ala1474Asp)
17	g.63941862C>A	CA400616061	SCN4A	c.4420G>T (p.Ala1474Ser)	gnomAD v4
17	g.63941862C=	CA2270161141	SCN4A	c.4420G= (p.Ala1474=)
17	g.63941862C>G	CA400616062	SCN4A	c.4420G>C (p.Ala1474Pro)
17	g.63941862C>T	CA8708964	SCN4A	c.4420G>A (p.Ala1474Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941863del	CA2639307363	SCN4A	c.4419del (p.Phe1473LeufsTer4)	gnomAD v4
17	g.63941863G>A	CA8708965	SCN4A	c.4419C>T (p.Phe1473=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941863G>C	CA400616063	SCN4A	c.4419C>G (p.Phe1473Leu)
17	g.63941863G=	CA2270161142	SCN4A	c.4419C= (p.Phe1473=)
17	g.63941863G>T	CA400616064	SCN4A	c.4419C>A (p.Phe1473Leu)
17	g.63941864A>C	CA400616067	SCN4A	c.4418T>G (p.Phe1473Cys)
17	g.63941864A>G	CA400616065	SCN4A	c.4418T>C (p.Phe1473Ser)	ClinVar
17	g.63941864A>T	CA400616066	SCN4A	c.4418T>A (p.Phe1473Tyr)
17	g.63941865A>C	CA400616068	SCN4A	c.4417T>G (p.Phe1473Val)
17	g.63941865A>G	CA400616069	SCN4A	c.4417T>C (p.Phe1473Leu)
17	g.63941865A>T	CA400616070	SCN4A	c.4417T>A (p.Phe1473Ile)
17	g.63941866C>A	CA501348445	SCN4A	c.4416G>T (p.Leu1472=)
17	g.63941866C=	CA2270161143	SCN4A	c.4416G= (p.Leu1472=)
17	g.63941866C>G	CA501348446	SCN4A	c.4416G>C (p.Leu1472=)
17	g.63941866C>T	CA8708966	SCN4A	c.4416G>A (p.Leu1472=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941867A=	CA2270161144	SCN4A	c.4415T= (p.Leu1472=)
17	g.63941867A>C	CA400616071	SCN4A	c.4415T>G (p.Leu1472Arg)
17	g.63941867A>G	CA16603311	SCN4A	c.4415T>C (p.Leu1472Pro)	ClinVar dbSNP gnomAD v4
17	g.63941867A>T	CA400616072	SCN4A	c.4415T>A (p.Leu1472Gln)
17	g.63941868G>A	CA501348448	SCN4A	c.4414C>T (p.Leu1472=)	gnomAD v4
17	g.63941868G>C	CA400616073	SCN4A	c.4414C>G (p.Leu1472Val)
17	g.63941868G=	CA2270161145	SCN4A	c.4414C= (p.Leu1472=)
17	g.63941868G>T	CA400616074	SCN4A	c.4414C>A (p.Leu1472Met)	dbSNP gnomAD v3 gnomAD v4
17	g.63941869C>A	CA501348449	SCN4A	c.4413G>T (p.Leu1471=)
17	g.63941869C>G	CA501348450	SCN4A	c.4413G>C (p.Leu1471=)
17	g.63941869C>T	CA501348451	SCN4A	c.4413G>A (p.Leu1471=)
17	g.63941870A>C	CA400616075	SCN4A	c.4412T>G (p.Leu1471Arg)
17	g.63941870A>G	CA400616076	SCN4A	c.4412T>C (p.Leu1471Pro)
17	g.63941870A>T	CA400616077	SCN4A	c.4412T>A (p.Leu1471Gln)	gnomAD v4
17	g.63941871G>A	CA501348452	SCN4A	c.4411C>T (p.Leu1471=)
17	g.63941871G>C	CA400616078	SCN4A	c.4411C>G (p.Leu1471Val)
17	g.63941871G>T	CA400616079	SCN4A	c.4411C>A (p.Leu1471Met)
17	g.63941872C>A	CA8708967	SCN4A	c.4410G>T (p.Thr1470=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941872C=	CA2270161146	SCN4A	c.4410G= (p.Thr1470=)
17	g.63941872C>G	CA501348455	SCN4A	c.4410G>C (p.Thr1470=)	dbSNP
17	g.63941872C>T	CA8708968	SCN4A	c.4410G>A (p.Thr1470=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941873G>A	CA8708969	SCN4A	c.4409C>T (p.Thr1470Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941873G>C	CA400616080	SCN4A	c.4409C>G (p.Thr1470Arg)
17	g.63941873G=	CA2270161147	SCN4A	c.4409C= (p.Thr1470=)
17	g.63941873G>T	CA400616081	SCN4A	c.4409C>A (p.Thr1470Lys)	dbSNP
17	g.63941874T>A	CA400616084	SCN4A	c.4408A>T (p.Thr1470Ser)
17	g.63941874T>C	CA400616083	SCN4A	c.4408A>G (p.Thr1470Ala)
17	g.63941874T>G	CA400616082	SCN4A	c.4408A>C (p.Thr1470Pro)	gnomAD v4
17	g.63941875C>A	CA501348457	SCN4A	c.4407G>T (p.Arg1469=)
17	g.63941875C=	CA2270161148	SCN4A	c.4407G= (p.Arg1469=)
17	g.63941875C>G	CA501348458	SCN4A	c.4407G>C (p.Arg1469=)
17	g.63941875C>T	CA292957260	SCN4A	c.4407G>A (p.Arg1469=)	dbSNP
17	g.63941876C>A	CA400616085	SCN4A	c.4406G>T (p.Arg1469Leu)
17	g.63941876C=	CA2270161149	SCN4A	c.4406G= (p.Arg1469=)
17	g.63941876C>G	CA400616086	SCN4A	c.4406G>C (p.Arg1469Pro)
17	g.63941876C>T	CA292957261	SCN4A	c.4406G>A (p.Arg1469Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941877G>A	CA8708970	SCN4A	c.4405C>T (p.Arg1469Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941877G>C	CA400616087	SCN4A	c.4405C>G (p.Arg1469Gly)
17	g.63941877G=	CA2270161150	SCN4A	c.4405C= (p.Arg1469=)
17	g.63941877G>T	CA501348462	SCN4A	c.4405C>A (p.Arg1469=)	gnomAD v4
17	g.63941878G>A	CA501348464	SCN4A	c.4404C>T (p.Ile1468=)	dbSNP gnomAD v4
17	g.63941878G>C	CA400616088	SCN4A	c.4404C>G (p.Ile1468Met)
17	g.63941878G=	CA2270161151	SCN4A	c.4404C= (p.Ile1468=)
17	g.63941878G>T	CA501348463	SCN4A	c.4404C>A (p.Ile1468=)
17	g.63941879A>C	CA400616089	SCN4A	c.4403T>G (p.Ile1468Ser)
17	g.63941879A>G	CA400616091	SCN4A	c.4403T>C (p.Ile1468Thr)
17	g.63941879A>T	CA400616090	SCN4A	c.4403T>A (p.Ile1468Asn)
17	g.63941880T>A	CA400616092	SCN4A	c.4402A>T (p.Ile1468Phe)
17	g.63941880T>C	CA8708971	SCN4A	c.4402A>G (p.Ile1468Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941880T>G	CA400616093	SCN4A	c.4402A>C (p.Ile1468Leu)
17	g.63941880T=	CA2270161152	SCN4A	c.4402A= (p.Ile1468=)
17	g.63941881G>A	CA501348467	SCN4A	c.4401C>T (p.Gly1467=)	ClinVar dbSNP gnomAD v2
17	g.63941881G>C	CA501348466	SCN4A	c.4401C>G (p.Gly1467=)
17	g.63941881G=	CA2270161153	SCN4A	c.4401C= (p.Gly1467=)
17	g.63941881G>T	CA501348465	SCN4A	c.4401C>A (p.Gly1467=)
17	g.63941882C>A	CA400616094	SCN4A	c.4400G>T (p.Gly1467Val)
17	g.63941882C>G	CA400616095	SCN4A	c.4400G>C (p.Gly1467Ala)
17	g.63941882C>T	CA400616096	SCN4A	c.4400G>A (p.Gly1467Asp)
17	g.63941883C>A	CA400616097	SCN4A	c.4399G>T (p.Gly1467Cys)
17	g.63941883C>G	CA400616098	SCN4A	c.4399G>C (p.Gly1467Arg)
17	g.63941883C>T	CA400616099	SCN4A	c.4399G>A (p.Gly1467Ser)	gnomAD v4
17	g.63941884C>A	CA400616100	SCN4A	c.4398G>T (p.Lys1466Asn)	COSMIC
17	g.63941884C=	CA2270161154	SCN4A	c.4398G= (p.Lys1466=)
17	g.63941884C>G	CA400616101	SCN4A	c.4398G>C (p.Lys1466Asn)
17	g.63941884C>T	CA501348470	SCN4A	c.4398G>A (p.Lys1466=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941885T>A	CA400616103	SCN4A	c.4397A>T (p.Lys1466Met)
17	g.63941885T>C	CA400616104	SCN4A	c.4397A>G (p.Lys1466Arg)
17	g.63941885T>G	CA400616102	SCN4A	c.4397A>C (p.Lys1466Thr)
17	g.63941886T>A	CA400616105	SCN4A	c.4396A>T (p.Lys1466Ter)
17	g.63941886T>C	CA400616107	SCN4A	c.4396A>G (p.Lys1466Glu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63941886T>G	CA400616106	SCN4A	c.4396A>C (p.Lys1466Gln)
17	g.63941886T=	CA2270161155	SCN4A	c.4396A= (p.Lys1466=)
17	g.63941887G>A	CA501348471	SCN4A	c.4395C>T (p.Ala1465=)	ClinVar dbSNP
17	g.63941887G>C	CA501348472	SCN4A	c.4395C>G (p.Ala1465=)
17	g.63941887G>T	CA501348473	SCN4A	c.4395C>A (p.Ala1465=)
17	g.63941888G>A	CA400616108	SCN4A	c.4394C>T (p.Ala1465Val)
17	g.63941888G>C	CA400616109	SCN4A	c.4394C>G (p.Ala1465Gly)
17	g.63941888G>T	CA400616110	SCN4A	c.4394C>A (p.Ala1465Asp)
17	g.63941889C>A	CA8708972	SCN4A	c.4393G>T (p.Ala1465Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941889C=	CA2270161156	SCN4A	c.4393G= (p.Ala1465=)
17	g.63941889C>G	CA400616111	SCN4A	c.4393G>C (p.Ala1465Pro)
17	g.63941889C>T	CA400616112	SCN4A	c.4393G>A (p.Ala1465Thr)	dbSNP gnomAD v3 gnomAD v4
17	g.63941890C>A	CA501348476	SCN4A	c.4392G>T (p.Gly1464=)
17	g.63941890C=	CA2270161157	SCN4A	c.4392G= (p.Gly1464=)
17	g.63941890C>G	CA501348477	SCN4A	c.4392G>C (p.Gly1464=)
17	g.63941890C>T	CA292957266	SCN4A	c.4392G>A (p.Gly1464=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941891C>A	CA400616115	SCN4A	c.4391G>T (p.Gly1464Val)
17	g.63941891C>G	CA400616114	SCN4A	c.4391G>C (p.Gly1464Ala)	ClinVar dbSNP
17	g.63941891C>T	CA400616113	SCN4A	c.4391G>A (p.Gly1464Glu)	gnomAD v4
17	g.63941892C>A	CA400616116	SCN4A	c.4390G>T (p.Gly1464Trp)	ClinVar
17	g.63941892C=	CA2270161158	SCN4A	c.4390G= (p.Gly1464=)
17	g.63941892C>G	CA400616117	SCN4A	c.4390G>C (p.Gly1464Arg)	ClinVar dbSNP gnomAD v4
17	g.63941892C>T	CA8708973	SCN4A	c.4390G>A (p.Gly1464Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941893G>A	CA8708974	SCN4A	c.4389C>T (p.Arg1463=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941893G>C	CA501348478	SCN4A	c.4389C>G (p.Arg1463=)
17	g.63941893G=	CA2270161159	SCN4A	c.4389C= (p.Arg1463=)
17	g.63941893G>T	CA501348479	SCN4A	c.4389C>A (p.Arg1463=)	ClinVar dbSNP gnomAD v4
17	g.63941894C>A	CA292957285	SCN4A	c.4388G>T (p.Arg1463Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941894C=	CA2270161160	SCN4A	c.4388G= (p.Arg1463=)
17	g.63941894C>G	CA400616118	SCN4A	c.4388G>C (p.Arg1463Pro)
17	g.63941894C>T	CA8708975	SCN4A	c.4388G>A (p.Arg1463His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941895G>A	CA8708977	SCN4A	c.4387C>T (p.Arg1463Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941895G>C	CA400616119	SCN4A	c.4387C>G (p.Arg1463Gly)
17	g.63941895G=	CA2270161161	SCN4A	c.4387C= (p.Arg1463=)
17	g.63941895G>T	CA8708976	SCN4A	c.4387C>A (p.Arg1463Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941896G>A	CA292957309	SCN4A	c.4386C>T (p.Ile1462=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941896G>C	CA8708978	SCN4A	c.4386C>G (p.Ile1462Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941896G=	CA2270161162	SCN4A	c.4386C= (p.Ile1462=)
17	g.63941896G>T	CA501348481	SCN4A	c.4386C>A (p.Ile1462=)
17	g.63941897A>C	CA400616120	SCN4A	c.4385T>G (p.Ile1462Ser)
17	g.63941897A>G	CA400616121	SCN4A	c.4385T>C (p.Ile1462Thr)
17	g.63941897A>T	CA400616122	SCN4A	c.4385T>A (p.Ile1462Asn)
17	g.63941898T>A	CA400616123	SCN4A	c.4384A>T (p.Ile1462Phe)
17	g.63941898T>C	CA400616124	SCN4A	c.4384A>G (p.Ile1462Val)
17	g.63941898T>G	CA400616125	SCN4A	c.4384A>C (p.Ile1462Leu)
17	g.63941899C>A	CA501348483	SCN4A	c.4383G>T (p.Leu1461=)
17	g.63941899C>G	CA501348484	SCN4A	c.4383G>C (p.Leu1461=)
17	g.63941899C>T	CA501348485	SCN4A	c.4383G>A (p.Leu1461=)	ClinVar gnomAD v4
17	g.63941900A>C	CA400616126	SCN4A	c.4382T>G (p.Leu1461Arg)	ClinVar dbSNP
17	g.63941900A>G	CA400616127	SCN4A	c.4382T>C (p.Leu1461Pro)	ClinVar
17	g.63941900A>T	CA400616128	SCN4A	c.4382T>A (p.Leu1461Gln)
17	g.63941901G>A	CA501348486	SCN4A	c.4381C>T (p.Leu1461=)	gnomAD v4
17	g.63941901G>C	CA400616129	SCN4A	c.4381C>G (p.Leu1461Val)
17	g.63941901G>T	CA400616130	SCN4A	c.4381C>A (p.Leu1461Met)
17	g.63941902C>A	CA501348489	SCN4A	c.4380G>T (p.Arg1460=)
17	g.63941902C=	CA2270161163	SCN4A	c.4380G= (p.Arg1460=)
17	g.63941902C>G	CA501348490	SCN4A	c.4380G>C (p.Arg1460=)
17	g.63941902C>T	CA501348491	SCN4A	c.4380G>A (p.Arg1460=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941903C>A	CA400616131	SCN4A	c.4379G>T (p.Arg1460Leu)
17	g.63941903C=	CA2270161164	SCN4A	c.4379G= (p.Arg1460=)
17	g.63941903C>G	CA400616133	SCN4A	c.4379G>C (p.Arg1460Pro)
17	g.63941903C>T	CA400616132	SCN4A	c.4379G>A (p.Arg1460Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941904G>A	CA8708979	SCN4A	c.4378C>T (p.Arg1460Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941904G>C	CA400616134	SCN4A	c.4378C>G (p.Arg1460Gly)	gnomAD v4
17	g.63941904G=	CA2270161165	SCN4A	c.4378C= (p.Arg1460=)
17	g.63941904G>T	CA501348492	SCN4A	c.4378C>A (p.Arg1460=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941905C>A	CA501348495	SCN4A	c.4377G>T (p.Leu1459=)
17	g.63941905C>G	CA501348494	SCN4A	c.4377G>C (p.Leu1459=)
17	g.63941905C>T	CA501348493	SCN4A	c.4377G>A (p.Leu1459=)	gnomAD v4
17	g.63941906A>C	CA400616135	SCN4A	c.4376T>G (p.Leu1459Arg)
17	g.63941906A>G	CA400616136	SCN4A	c.4376T>C (p.Leu1459Pro)	gnomAD v4
17	g.63941906A>T	CA400616137	SCN4A	c.4376T>A (p.Leu1459Gln)

Number of alleles fetched