Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108386_80108456del	CA2695227076	GAA	c.1052_1076-33del
17	g.80108391del	CA891862619	GAA	c.1057del (p.Gln353SerfsTer?)	ClinVar dbSNP
17	g.80108391C>A	CA401364763	GAA	c.1057C>A (p.Gln353Lys)
17	g.80108391C>G	CA401364765	GAA	c.1057C>G (p.Gln353Glu)
17	g.80108391C>T	CA401364766	GAA	c.1057C>T (p.Gln353Ter)
17	g.80108392A=	CA2277812707	GAA	c.1058A= (p.Gln353=)
17	g.80108392A>C	CA401364769	GAA	c.1058A>C (p.Gln353Pro)
17	g.80108392A>G	CA8815135	GAA	c.1058A>G (p.Gln353Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108392A>T	CA401364771	GAA	c.1058A>T (p.Gln353Leu)
17	g.80108393G>A	CA294891888	GAA	c.1059G>A (p.Gln353=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108393G>C	CA401364773	GAA	c.1059G>C (p.Gln353His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108393G=	CA2277812708	GAA	c.1059G= (p.Gln353=)
17	g.80108393G>T	CA401364775	GAA	c.1059G>T (p.Gln353His)
17	g.80108394T>A	CA401364777	GAA	c.1060T>A (p.Tyr354Asn)
17	g.80108394T>C	CA401364781	GAA	c.1060T>C (p.Tyr354His)
17	g.80108394T>G	CA401364779	GAA	c.1060T>G (p.Tyr354Asp)
17	g.80108395A=	CA2277812709	GAA	c.1061A= (p.Tyr354=)
17	g.80108395A>C	CA401364783	GAA	c.1061A>C (p.Tyr354Ser)	dbSNP
17	g.80108395A>G	CA401364785	GAA	c.1061A>G (p.Tyr354Cys)
17	g.80108395A>T	CA401364786	GAA	c.1061A>T (p.Tyr354Phe)	gnomAD v4
17	g.80108396C>A	CA16620645	GAA	c.1062C>A (p.Tyr354Ter)	ClinVar dbSNP
17	g.80108396C=	CA2277812710	GAA	c.1062C= (p.Tyr354=)
17	g.80108396C>G	CA401364789	GAA	c.1062C>G (p.Tyr354Ter)
17	g.80108396C>T	CA502402325	GAA	c.1062C>T (p.Tyr354=)	ClinVar dbSNP
17	g.80108397C>A	CA401364791	GAA	c.1063C>A (p.Leu355Met)
17	g.80108397C>G	CA401364792	GAA	c.1063C>G (p.Leu355Val)
17	g.80108397C>T	CA502402327	GAA	c.1063C>T (p.Leu355=)
17	g.80108398T>A	CA401364793	GAA	c.1064T>A (p.Leu355Gln)
17	g.80108398T>C	CA8815136	GAA	c.1064T>C (p.Leu355Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108398T>G	CA401364795	GAA	c.1064T>G (p.Leu355Arg)	dbSNP gnomAD v4
17	g.80108398T=	CA2277812711	GAA	c.1064T= (p.Leu355=)
17	g.80108399G>A	CA502402332	GAA	c.1065G>A (p.Leu355=)	ClinVar dbSNP
17	g.80108399G>C	CA502402328	GAA	c.1065G>C (p.Leu355=)
17	g.80108399G>T	CA502402329	GAA	c.1065G>T (p.Leu355=)
17	g.80108400G>A	CA401364801	GAA	c.1066G>A (p.Asp356Asn)
17	g.80108400G>C	CA401364799	GAA	c.1066G>C (p.Asp356His)
17	g.80108400G>T	CA401364797	GAA	c.1066G>T (p.Asp356Tyr)
17	g.80108401A>C	CA401364803	GAA	c.1067A>C (p.Asp356Ala)
17	g.80108401A>G	CA401364804	GAA	c.1067A>G (p.Asp356Gly)
17	g.80108401A>T	CA401364806	GAA	c.1067A>T (p.Asp356Val)
17	g.80108402C>A	CA401364809	GAA	c.1068C>A (p.Asp356Glu)
17	g.80108402C=	CA2277812712	GAA	c.1068C= (p.Asp356=)
17	g.80108402C>G	CA401364810	GAA	c.1068C>G (p.Asp356Glu)
17	g.80108402C>T	CA8815137	GAA	c.1068C>T (p.Asp356=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108403G>A	CA8815138	GAA	c.1069G>A (p.Val357Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80108403G>C	CA401364814	GAA	c.1069G>C (p.Val357Leu)
17	g.80108403G=	CA2277812713	GAA	c.1069G= (p.Val357=)
17	g.80108403G>T	CA198782	GAA	c.1069G>T (p.Val357Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80108404T>A	CA401364816	GAA	c.1070T>A (p.Val357Asp)
17	g.80108404T>C	CA401364818	GAA	c.1070T>C (p.Val357Ala)

Number of alleles fetched