Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63968322G>A	CA210093	SCN4A	c.737C>T (p.Ser246Leu)	ClinVar dbSNP gnomAD v4
17	g.63968322G>C	CA400637813	SCN4A	c.737C>G (p.Ser246Trp)
17	g.63968322G=	CA2270173985	SCN4A	c.737C= (p.Ser246=)
17	g.63968322G>T	CA400637815	SCN4A	c.737C>A (p.Ser246Ter)	dbSNP gnomAD v4
17	g.63968323A>C	CA400637817	SCN4A	c.736T>G (p.Ser246Ala)
17	g.63968323A>G	CA400637819	SCN4A	c.736T>C (p.Ser246Pro)
17	g.63968323A>T	CA400637820	SCN4A	c.736T>A (p.Ser246Thr)
17	g.63968324C>A	CA400637822	SCN4A	c.735G>T (p.Gln245His)
17	g.63968324C>G	CA400637824	SCN4A	c.735G>C (p.Gln245His)	gnomAD v4
17	g.63968324C>T	CA501348960	SCN4A	c.735G>A (p.Gln245=)
17	g.63968325T>A	CA400637826	SCN4A	c.734A>T (p.Gln245Leu)
17	g.63968325T>C	CA400637828	SCN4A	c.734A>G (p.Gln245Arg)
17	g.63968325T>G	CA400637829	SCN4A	c.734A>C (p.Gln245Pro)
17	g.63968326G>A	CA400637830	SCN4A	c.733C>T (p.Gln245Ter)
17	g.63968326G>C	CA400637834	SCN4A	c.733C>G (p.Gln245Glu)
17	g.63968326G>T	CA400637832	SCN4A	c.733C>A (p.Gln245Lys)	ClinVar dbSNP gnomAD v4
17	g.63968327G>A	CA501348961	SCN4A	c.732C>T (p.Ile244=)
17	g.63968327G>C	CA400637836	SCN4A	c.732C>G (p.Ile244Met)	dbSNP gnomAD v3 gnomAD v4
17	g.63968327G=	CA2270173986	SCN4A	c.732C= (p.Ile244=)
17	g.63968327G>T	CA501348962	SCN4A	c.732C>A (p.Ile244=)	gnomAD v4
17	g.63968328A>C	CA400637838	SCN4A	c.731T>G (p.Ile244Ser)
17	g.63968328A>G	CA400637840	SCN4A	c.731T>C (p.Ile244Thr)
17	g.63968328A>T	CA400637841	SCN4A	c.731T>A (p.Ile244Asn)
17	g.63968329T>A	CA400637843	SCN4A	c.730A>T (p.Ile244Phe)
17	g.63968329T>C	CA400637845	SCN4A	c.730A>G (p.Ile244Val)	gnomAD v4
17	g.63968329T>G	CA400637847	SCN4A	c.730A>C (p.Ile244Leu)
17	g.63968330C>A	CA501348965	SCN4A	c.729G>T (p.Leu243=)
17	g.63968330C>G	CA501348964	SCN4A	c.729G>C (p.Leu243=)
17	g.63968330C>T	CA501348963	SCN4A	c.729G>A (p.Leu243=)
17	g.63968331A>C	CA400637848	SCN4A	c.728T>G (p.Leu243Arg)
17	g.63968331A>G	CA400637850	SCN4A	c.728T>C (p.Leu243Pro)
17	g.63968331A>T	CA400637852	SCN4A	c.728T>A (p.Leu243Gln)
17	g.63968332G>A	CA501348966	SCN4A	c.727C>T (p.Leu243=)
17	g.63968332G>C	CA400637853	SCN4A	c.727C>G (p.Leu243Val)
17	g.63968332G>T	CA400637855	SCN4A	c.727C>A (p.Leu243Met)
17	g.63968333G>A	CA8710052	SCN4A	c.726C>T (p.Ala242=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63968333G>C	CA501348967	SCN4A	c.726C>G (p.Ala242=)
17	g.63968333G=	CA2270173987	SCN4A	c.726C= (p.Ala242=)
17	g.63968333G>T	CA501348968	SCN4A	c.726C>A (p.Ala242=)
17	g.63968334G>A	CA400637858	SCN4A	c.725C>T (p.Ala242Val)
17	g.63968334G>C	CA400637860	SCN4A	c.725C>G (p.Ala242Gly)	gnomAD v4
17	g.63968334G>T	CA400637862	SCN4A	c.725C>A (p.Ala242Asp)
17	g.63968334_63968335delinsTT	CA2580094614	SCN4A	c.724_725delinsAA (p.Ala242Asn)	ClinVar
17	g.63968335C>A	CA400637864	SCN4A	c.724G>T (p.Ala242Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63968335C=	CA2270173988	SCN4A	c.724G= (p.Ala242=)
17	g.63968335C>G	CA400637866	SCN4A	c.724G>C (p.Ala242Pro)
17	g.63968335C>T	CA400637868	SCN4A	c.724G>A (p.Ala242Thr)	ClinVar
17	g.63968339del	CA985436532	SCN4A	c.724del (p.Ala242ProfsTer2)	gnomAD v3 gnomAD v4
17	g.63968336C>A	CA501348969	SCN4A	c.723G>T (p.Gly241=)
17	g.63968336C=	CA2270173989	SCN4A	c.723G= (p.Gly241=)

Number of alleles fetched