Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80104857del	CA658795225	GAA	c.271del (p.Asp91IlefsTer?)
17	g.80104857G>A	CA116586	GAA	c.271G>A (p.Asp91Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104857G>C	CA401360578	GAA	c.271G>C (p.Asp91His)
17	g.80104857G=	CA2277810686	GAA	c.271G= (p.Asp91=)
17	g.80104857G>T	CA8814836	GAA	c.271G>T (p.Asp91Tyr)	ClinVar dbSNP ExAC gnomAD v2
17	g.80104857_80104858delinsAG	CA241285	GAA	c.271_272delinsAG (p.Asp91Ser)	ClinVar dbSNP
17	g.80104857_80104858delinsGA	CA2277810687	GAA	c.271_272delinsGA (p.Asp91=)
17	g.80104858A>C	CA401360579	GAA	c.272A>C (p.Asp91Ala)
17	g.80104858A>G	CA401360580	GAA	c.272A>G (p.Asp91Gly)	ClinVar gnomAD v4
17	g.80104858A>T	CA401360581	GAA	c.272A>T (p.Asp91Val)
17	g.80104859T>A	CA401360582	GAA	c.273T>A (p.Asp91Glu)
17	g.80104859T>C	CA502402203	GAA	c.273T>C (p.Asp91=)
17	g.80104859T>G	CA401360583	GAA	c.273T>G (p.Asp91Glu)
17	g.80104860T>A	CA401360584	GAA	c.274T>A (p.Cys92Ser)
17	g.80104860T>C	CA401360585	GAA	c.274T>C (p.Cys92Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.80104860T>G	CA401360586	GAA	c.274T>G (p.Cys92Gly)
17	g.80104860T=	CA2277810688	GAA	c.274T= (p.Cys92=)
17	g.80104861G>A	CA401360589	GAA	c.275G>A (p.Cys92Tyr)	gnomAD v4
17	g.80104861G>C	CA401360588	GAA	c.275G>C (p.Cys92Ser)
17	g.80104861G>T	CA401360587	GAA	c.275G>T (p.Cys92Phe)
17	g.80104862C>A	CA401360590	GAA	c.276C>A (p.Cys92Ter)	ClinVar dbSNP
17	g.80104862C=	CA2277810689	GAA	c.276C= (p.Cys92=)
17	g.80104862C>G	CA401360591	GAA	c.276C>G (p.Cys92Trp)
17	g.80104862C>T	CA502402204	GAA	c.276C>T (p.Cys92=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104863G>A	CA8814837	GAA	c.277G>A (p.Ala93Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104863G>C	CA401360593	GAA	c.277G>C (p.Ala93Pro)	gnomAD v4
17	g.80104863G=	CA2277810690	GAA	c.277G= (p.Ala93=)
17	g.80104863G>T	CA401360592	GAA	c.277G>T (p.Ala93Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.80104864C>A	CA401360594	GAA	c.278C>A (p.Ala93Asp)	gnomAD v4
17	g.80104864C=	CA2277810691	GAA	c.278C= (p.Ala93=)
17	g.80104864C>G	CA401360595	GAA	c.278C>G (p.Ala93Gly)
17	g.80104864C>T	CA401360596	GAA	c.278C>T (p.Ala93Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104867del	CA645599494	GAA	c.281del (p.Pro94LeufsTer?)	COSMIC
17	g.80104865C>A	CA502402206	GAA	c.279C>A (p.Ala93=)
17	g.80104865C>G	CA502402207	GAA	c.279C>G (p.Ala93=)
17	g.80104865C>T	CA502402208	GAA	c.279C>T (p.Ala93=)	gnomAD v4
17	g.80104866C>A	CA8814838	GAA	c.280C>A (p.Pro94Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104866C=	CA2277810692	GAA	c.280C= (p.Pro94=)
17	g.80104866C>G	CA401360597	GAA	c.280C>G (p.Pro94Ala)
17	g.80104866C>T	CA401360598	GAA	c.280C>T (p.Pro94Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80104866_80104868delinsCCT	CA2277810693	GAA	c.280_282delinsCCT (p.Pro94=)
17	g.80104867C>A	CA401360599	GAA	c.281C>A (p.Pro94His)
17	g.80104867C>G	CA401360600	GAA	c.281C>G (p.Pro94Arg)
17	g.80104867C>T	CA401360601	GAA	c.281C>T (p.Pro94Leu)
17	g.80104867_80104868del	CA16041881	GAA	c.281_282del (p.Pro94ArgfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104868del	CA2499224998	GAA	c.282del (p.Asp95ThrfsTer?)	ClinVar dbSNP
17	g.80104868T>A	CA502402209	GAA	c.282T>A (p.Pro94=)
17	g.80104868T>C	CA502402210	GAA	c.282T>C (p.Pro94=)	ClinVar dbSNP
17	g.80104868T>G	CA502402211	GAA	c.282T>G (p.Pro94=)

Number of alleles fetched