Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63941762A>C	CA400615841	SCN4A	c.4520T>G (p.Val1507Gly)
17	g.63941762A>G	CA400615842	SCN4A	c.4520T>C (p.Val1507Ala)
17	g.63941762A>T	CA400615843	SCN4A	c.4520T>A (p.Val1507Asp)
17	g.63941763C>A	CA400615844	SCN4A	c.4519G>T (p.Val1507Phe)
17	g.63941763C=	CA2270161095	SCN4A	c.4519G= (p.Val1507=)
17	g.63941763C>G	CA400615845	SCN4A	c.4519G>C (p.Val1507Leu)
17	g.63941763C>T	CA8708950	SCN4A	c.4519G>A (p.Val1507Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941764G>A	CA8708951	SCN4A	c.4518C>T (p.Tyr1506=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941764G>C	CA400615846	SCN4A	c.4518C>G (p.Tyr1506Ter)
17	g.63941764G=	CA2270161096	SCN4A	c.4518C= (p.Tyr1506=)
17	g.63941764G>T	CA400615847	SCN4A	c.4518C>A (p.Tyr1506Ter)	dbSNP
17	g.63941765T>A	CA8708952	SCN4A	c.4517A>T (p.Tyr1506Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941765T>C	CA400615849	SCN4A	c.4517A>G (p.Tyr1506Cys)	dbSNP gnomAD v4
17	g.63941765T>G	CA400615848	SCN4A	c.4517A>C (p.Tyr1506Ser)
17	g.63941765T=	CA2270161097	SCN4A	c.4517A= (p.Tyr1506=)
17	g.63941766A>C	CA400615850	SCN4A	c.4516T>G (p.Tyr1506Asp)
17	g.63941766A>G	CA400615851	SCN4A	c.4516T>C (p.Tyr1506His)	ClinVar
17	g.63941766A>T	CA400615852	SCN4A	c.4516T>A (p.Tyr1506Asn)
17	g.63941767G>A	CA501348217	SCN4A	c.4515C>T (p.Ala1505=)
17	g.63941767G>C	CA501348219	SCN4A	c.4515C>G (p.Ala1505=)	gnomAD v4
17	g.63941767G>T	CA501348218	SCN4A	c.4515C>A (p.Ala1505=)
17	g.63941768G>A	CA400615853	SCN4A	c.4514C>T (p.Ala1505Val)	gnomAD v4
17	g.63941768G>C	CA400615854	SCN4A	c.4514C>G (p.Ala1505Gly)
17	g.63941768G>T	CA400615855	SCN4A	c.4514C>A (p.Ala1505Asp)
17	g.63941769C>A	CA400615858	SCN4A	c.4513G>T (p.Ala1505Ser)
17	g.63941769C>G	CA400615856	SCN4A	c.4513G>C (p.Ala1505Pro)
17	g.63941769C>T	CA400615857	SCN4A	c.4513G>A (p.Ala1505Thr)
17	g.63941770A=	CA2270161098	SCN4A	c.4512T= (p.Phe1504=)
17	g.63941770A>C	CA400615859	SCN4A	c.4512T>G (p.Phe1504Leu)
17	g.63941770A>G	CA501348220	SCN4A	c.4512T>C (p.Phe1504=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941770A>T	CA400615860	SCN4A	c.4512T>A (p.Phe1504Leu)
17	g.63941771A>C	CA400615861	SCN4A	c.4511T>G (p.Phe1504Cys)
17	g.63941771A>G	CA400615862	SCN4A	c.4511T>C (p.Phe1504Ser)
17	g.63941771A>T	CA400615863	SCN4A	c.4511T>A (p.Phe1504Tyr)
17	g.63941772A>C	CA400615864	SCN4A	c.4510T>G (p.Phe1504Val)
17	g.63941772A>G	CA400615866	SCN4A	c.4510T>C (p.Phe1504Leu)
17	g.63941772A>T	CA400615865	SCN4A	c.4510T>A (p.Phe1504Ile)
17	g.63941773G>A	CA501348223	SCN4A	c.4509C>T (p.Asn1503=)	gnomAD v4
17	g.63941773G>C	CA400615867	SCN4A	c.4509C>G (p.Asn1503Lys)
17	g.63941773G>T	CA400615868	SCN4A	c.4509C>A (p.Asn1503Lys)
17	g.63941774T>A	CA400615869	SCN4A	c.4508A>T (p.Asn1503Ile)
17	g.63941774T>C	CA8708953	SCN4A	c.4508A>G (p.Asn1503Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941774T>G	CA400615870	SCN4A	c.4508A>C (p.Asn1503Thr)
17	g.63941774T=	CA2270161099	SCN4A	c.4508A= (p.Asn1503=)
17	g.63941775T>A	CA400615871	SCN4A	c.4507A>T (p.Asn1503Tyr)
17	g.63941775T>C	CA400615872	SCN4A	c.4507A>G (p.Asn1503Asp)	ClinVar
17	g.63941775T>G	CA400615873	SCN4A	c.4507A>C (p.Asn1503His)
17	g.63941776G>A	CA501348225	SCN4A	c.4506C>T (p.Ser1502=)
17	g.63941776G>C	CA501348226	SCN4A	c.4506C>G (p.Ser1502=)
17	g.63941776G>T	CA501348227	SCN4A	c.4506C>A (p.Ser1502=)
17	g.63941777G>A	CA400615874	SCN4A	c.4505C>T (p.Ser1502Phe)	gnomAD v4
17	g.63941777G>C	CA400615875	SCN4A	c.4505C>G (p.Ser1502Cys)
17	g.63941777G>T	CA400615876	SCN4A	c.4505C>A (p.Ser1502Tyr)
17	g.63941778A>C	CA400615879	SCN4A	c.4504T>G (p.Ser1502Ala)	gnomAD v4
17	g.63941778A>G	CA400615878	SCN4A	c.4504T>C (p.Ser1502Pro)
17	g.63941778A>T	CA400615877	SCN4A	c.4504T>A (p.Ser1502Thr)
17	g.63941779C>A	CA400615880	SCN4A	c.4503G>T (p.Met1501Ile)
17	g.63941779C=	CA2270161100	SCN4A	c.4503G= (p.Met1501=)
17	g.63941779C>G	CA400615882	SCN4A	c.4503G>C (p.Met1501Ile)	gnomAD v4
17	g.63941779C>T	CA400615881	SCN4A	c.4503G>A (p.Met1501Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941780A>C	CA400615883	SCN4A	c.4502T>G (p.Met1501Arg)
17	g.63941780A>G	CA400615885	SCN4A	c.4502T>C (p.Met1501Thr)
17	g.63941780A>T	CA400615884	SCN4A	c.4502T>A (p.Met1501Lys)
17	g.63941781T>A	CA400615886	SCN4A	c.4501A>T (p.Met1501Leu)
17	g.63941781T>C	CA400615888	SCN4A	c.4501A>G (p.Met1501Val)	ClinVar gnomAD v4
17	g.63941781T>G	CA400615887	SCN4A	c.4501A>C (p.Met1501Leu)
17	g.63941782G>A	CA501348232	SCN4A	c.4500C>T (p.Gly1500=)	gnomAD v4
17	g.63941782G>C	CA501348233	SCN4A	c.4500C>G (p.Gly1500=)
17	g.63941782G>T	CA501348231	SCN4A	c.4500C>A (p.Gly1500=)
17	g.63941783C>A	CA400615889	SCN4A	c.4499G>T (p.Gly1500Val)
17	g.63941783C>G	CA400615890	SCN4A	c.4499G>C (p.Gly1500Ala)
17	g.63941783C>T	CA400615891	SCN4A	c.4499G>A (p.Gly1500Asp)
17	g.63941784C>A	CA400615892	SCN4A	c.4498G>T (p.Gly1500Cys)
17	g.63941784C=	CA2270161101	SCN4A	c.4498G= (p.Gly1500=)
17	g.63941784C>G	CA400615893	SCN4A	c.4498G>C (p.Gly1500Arg)
17	g.63941784C>T	CA400615894	SCN4A	c.4498G>A (p.Gly1500Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941785G>A	CA292957134	SCN4A	c.4497C>T (p.Phe1499=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941785G>C	CA400615895	SCN4A	c.4497C>G (p.Phe1499Leu)
17	g.63941785G=	CA2270161102	SCN4A	c.4497C= (p.Phe1499=)
17	g.63941785G>T	CA400615896	SCN4A	c.4497C>A (p.Phe1499Leu)
17	g.63941786A>C	CA400615897	SCN4A	c.4496T>G (p.Phe1499Cys)
17	g.63941786A>G	CA400615898	SCN4A	c.4496T>C (p.Phe1499Ser)
17	g.63941786A>T	CA400615899	SCN4A	c.4496T>A (p.Phe1499Tyr)
17	g.63941787A>C	CA400615902	SCN4A	c.4495T>G (p.Phe1499Val)
17	g.63941787A>G	CA400615900	SCN4A	c.4495T>C (p.Phe1499Leu)	dbSNP
17	g.63941787A>T	CA400615901	SCN4A	c.4495T>A (p.Phe1499Ile)
17	g.63941788G>A	CA501348240	SCN4A	c.4494C>T (p.Ile1498=)	gnomAD v4
17	g.63941788G>C	CA400615903	SCN4A	c.4494C>G (p.Ile1498Met)
17	g.63941788G>T	CA501348241	SCN4A	c.4494C>A (p.Ile1498=)
17	g.63941789A>C	CA400615904	SCN4A	c.4493T>G (p.Ile1498Ser)
17	g.63941789A>G	CA400615905	SCN4A	c.4493T>C (p.Ile1498Thr)
17	g.63941789A>T	CA400615906	SCN4A	c.4493T>A (p.Ile1498Asn)
17	g.63941790T>A	CA400615907	SCN4A	c.4492A>T (p.Ile1498Phe)	dbSNP
17	g.63941790T>C	CA400615908	SCN4A	c.4492A>G (p.Ile1498Val)	gnomAD v4
17	g.63941790T>G	CA400615909	SCN4A	c.4492A>C (p.Ile1498Leu)
17	g.63941790T=	CA2270161103	SCN4A	c.4492A= (p.Ile1498=)
17	g.63941791G>A	CA501348244	SCN4A	c.4491C>T (p.Ser1497=)
17	g.63941791G>C	CA501348245	SCN4A	c.4491C>G (p.Ser1497=)
17	g.63941791G>T	CA501348246	SCN4A	c.4491C>A (p.Ser1497=)
17	g.63941792G>A	CA400615910	SCN4A	c.4490C>T (p.Ser1497Phe)
17	g.63941792G>C	CA400615911	SCN4A	c.4490C>G (p.Ser1497Cys)
17	g.63941792G>T	CA400615912	SCN4A	c.4490C>A (p.Ser1497Tyr)	ClinVar dbSNP
17	g.63941793A=	CA2270161104	SCN4A	c.4489T= (p.Ser1497=)
17	g.63941793A>C	CA400615915	SCN4A	c.4489T>G (p.Ser1497Ala)
17	g.63941793A>G	CA400615914	SCN4A	c.4489T>C (p.Ser1497Pro)	dbSNP
17	g.63941793A>T	CA400615913	SCN4A	c.4489T>A (p.Ser1497Thr)
17	g.63941794G>A	CA501348248	SCN4A	c.4488C>T (p.Tyr1496=)	ClinVar dbSNP
17	g.63941794G>C	CA400615916	SCN4A	c.4488C>G (p.Tyr1496Ter)
17	g.63941794G>T	CA400615917	SCN4A	c.4488C>A (p.Tyr1496Ter)	gnomAD v4
17	g.63941795T>A	CA400615918	SCN4A	c.4487A>T (p.Tyr1496Phe)
17	g.63941795T>C	CA400615919	SCN4A	c.4487A>G (p.Tyr1496Cys)	gnomAD v4
17	g.63941795T>G	CA400615920	SCN4A	c.4487A>C (p.Tyr1496Ser)
17	g.63941796A>C	CA400615921	SCN4A	c.4486T>G (p.Tyr1496Asp)
17	g.63941796A>G	CA400615922	SCN4A	c.4486T>C (p.Tyr1496His)
17	g.63941796A>T	CA400615923	SCN4A	c.4486T>A (p.Tyr1496Asn)
17	g.63941797G>A	CA501348253	SCN4A	c.4485C>T (p.Ile1495=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941797G>C	CA400615924	SCN4A	c.4485C>G (p.Ile1495Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941797G=	CA2270161105	SCN4A	c.4485C= (p.Ile1495=)
17	g.63941797G>T	CA501348254	SCN4A	c.4485C>A (p.Ile1495=)	COSMIC
17	g.63941798A=	CA2270161106	SCN4A	c.4484T= (p.Ile1495=)
17	g.63941798A>C	CA400615925	SCN4A	c.4484T>G (p.Ile1495Ser)
17	g.63941798A>G	CA400615926	SCN4A	c.4484T>C (p.Ile1495Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941798A>T	CA400615927	SCN4A	c.4484T>A (p.Ile1495Asn)
17	g.63941799T>A	CA341679	SCN4A	c.4483A>T (p.Ile1495Phe)	dbSNP
17	g.63941799T>C	CA400615928	SCN4A	c.4483A>G (p.Ile1495Val)
17	g.63941799T>G	CA400615929	SCN4A	c.4483A>C (p.Ile1495Leu)
17	g.63941799T=	CA2270161107	SCN4A	c.4483A= (p.Ile1495=)
17	g.63941800G>A	CA501348258	SCN4A	c.4482C>T (p.Phe1494=)	gnomAD v4
17	g.63941800G>C	CA400615930	SCN4A	c.4482C>G (p.Phe1494Leu)	gnomAD v4
17	g.63941800G>T	CA400615931	SCN4A	c.4482C>A (p.Phe1494Leu)
17	g.63941801A=	CA2270161108	SCN4A	c.4481T= (p.Phe1494=)
17	g.63941801A>C	CA400615932	SCN4A	c.4481T>G (p.Phe1494Cys)
17	g.63941801A>G	CA400615933	SCN4A	c.4481T>C (p.Phe1494Ser)
17	g.63941801A>T	CA400615934	SCN4A	c.4481T>A (p.Phe1494Tyr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941802A>C	CA400615935	SCN4A	c.4480T>G (p.Phe1494Val)
17	g.63941802A>G	CA400615936	SCN4A	c.4480T>C (p.Phe1494Leu)
17	g.63941802A>T	CA400615937	SCN4A	c.4480T>A (p.Phe1494Ile)	gnomAD v4
17	g.63941803C>A	CA400615938	SCN4A	c.4479G>T (p.Met1493Ile)
17	g.63941803C=	CA2270161109	SCN4A	c.4479G= (p.Met1493=)
17	g.63941803C>G	CA400615939	SCN4A	c.4479G>C (p.Met1493Ile)
17	g.63941803C>T	CA341677	SCN4A	c.4479G>A (p.Met1493Ile)	dbSNP gnomAD v4
17	g.[63941803C>T;63941814A>G]	CA645373129	SCN4A	c.[4468T>C;4479G>A] (p.[Phe1490Leu;Met1493Ile])	ClinVar
17	g.63941803_63941814delinsTATGACCAGGAG	CA2695226829	SCN4A	c.4468_4479delinsCTCCTGGTCATA (p.Phe1490_Met1493delinsLeuLeuValIle)
17	g.63941804A>C	CA400615942	SCN4A	c.4478T>G (p.Met1493Arg)
17	g.63941804A>G	CA400615941	SCN4A	c.4478T>C (p.Met1493Thr)	gnomAD v4
17	g.63941804A>T	CA400615940	SCN4A	c.4478T>A (p.Met1493Lys)
17	g.63941805T>A	CA400615943	SCN4A	c.4477A>T (p.Met1493Leu)	gnomAD v4
17	g.63941805T>C	CA400615945	SCN4A	c.4477A>G (p.Met1493Val)	ClinVar dbSNP
17	g.63941805T>G	CA400615944	SCN4A	c.4477A>C (p.Met1493Leu)
17	g.63941805T=	CA2270161110	SCN4A	c.4477A= (p.Met1493=)
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

Number of alleles fetched