Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104170_80104729del	CA2697555214	GAA	c.-32-385_143del	ClinVar
17	g.80104613C>A	CA502176921	GAA	c.27C>A (p.Ser9=)
17	g.80104613C=	CA2277810541	GAA	c.27C= (p.Ser9=)
17	g.80104613C>G	CA502176925	GAA	c.27C>G (p.Ser9=)
17	g.80104613C>T	CA502176923	GAA	c.27C>T (p.Ser9=)	dbSNP
17	g.80104614C>A	CA401359940	GAA	c.28C>A (p.His10Asn)
17	g.80104614C=	CA2277810542	GAA	c.28C= (p.His10=)
17	g.80104614C>G	CA401359942	GAA	c.28C>G (p.His10Asp)
17	g.80104614C>T	CA401359943	GAA	c.28C>T (p.His10Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.80104615del	CA2573054599	GAA	c.29del (p.His10ProfsTer?)	dbSNP
17	g.80104615A>C	CA401359946	GAA	c.29A>C (p.His10Pro)
17	g.80104615A>G	CA401359948	GAA	c.29A>G (p.His10Arg)	dbSNP gnomAD v4
17	g.80104615A>T	CA401359950	GAA	c.29A>T (p.His10Leu)	ClinVar gnomAD v4
17	g.80104616C>A	CA401359953	GAA	c.30C>A (p.His10Gln)
17	g.80104616C=	CA2277810543	GAA	c.30C= (p.His10=)
17	g.80104616C>G	CA401359954	GAA	c.30C>G (p.His10Gln)	dbSNP
17	g.80104616C>T	CA502176932	GAA	c.30C>T (p.His10=)	ClinVar gnomAD v4
17	g.80104617C>A	CA502176934	GAA	c.31C>A (p.Arg11=)
17	g.80104617C=	CA2277810544	GAA	c.31C= (p.Arg11=)
17	g.80104617C>G	CA401359956	GAA	c.31C>G (p.Arg11Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104617C>T	CA8814759	GAA	c.31C>T (p.Arg11Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104618G>A	CA8814760	GAA	c.32G>A (p.Arg11Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104618G>C	CA401359961	GAA	c.32G>C (p.Arg11Pro)
17	g.80104618G=	CA2277810545	GAA	c.32G= (p.Arg11=)
17	g.80104618G>T	CA8814761	GAA	c.32G>T (p.Arg11Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104619_80104633del	CA2518182731	GAA	c.33_47del (p.Leu12_Cys16del)
17	g.80104619G>A	CA502176940	GAA	c.33G>A (p.Arg11=)	gnomAD v4
17	g.80104619G>C	CA502176941	GAA	c.33G>C (p.Arg11=)
17	g.80104619G>T	CA502176943	GAA	c.33G>T (p.Arg11=)
17	g.80104620C>A	CA401359965	GAA	c.34C>A (p.Leu12Ile)
17	g.80104620C=	CA2277810546	GAA	c.34C= (p.Leu12=)
17	g.80104620C>G	CA401359968	GAA	c.34C>G (p.Leu12Val)
17	g.80104620C>T	CA8814763	GAA	c.34C>T (p.Leu12Phe)	dbSNP ExAC gnomAD v2
17	g.80104620_80104624delinsCTCCT	CA2277810547	GAA	c.34_38delinsCTCCT (p.Leu12=)
17	g.80104621T>A	CA401359971	GAA	c.35T>A (p.Leu12His)
17	g.80104621T>C	CA8814764	GAA	c.35T>C (p.Leu12Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104621T>G	CA401359974	GAA	c.35T>G (p.Leu12Arg)
17	g.80104621T=	CA2277810548	GAA	c.35T= (p.Leu12=)
17	g.80104621_80104624del	CA8814762	GAA	c.35_38del (p.Leu12ArgfsTer30)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104622C>A	CA502176953	GAA	c.36C>A (p.Leu12=)
17	g.80104622C=	CA2277810549	GAA	c.36C= (p.Leu12=)
17	g.80104622C>G	CA502176956	GAA	c.36C>G (p.Leu12=)
17	g.80104622C>T	CA8814765	GAA	c.36C>T (p.Leu12=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104623C>A	CA401359979	GAA	c.37C>A (p.Leu13Met)
17	g.80104623C=	CA2277810550	GAA	c.37C= (p.Leu13=)
17	g.80104623C>G	CA401359981	GAA	c.37C>G (p.Leu13Val)
17	g.80104623C>T	CA502176958	GAA	c.37C>T (p.Leu13=)	dbSNP
17	g.80104626_80104633del	CA913184761	GAA	c.40_47del (p.Ala14ArgfsTer18)	ClinVar
17	g.80104624T>A	CA401359984	GAA	c.38T>A (p.Leu13Gln)
17	g.80104624T>C	CA401359987	GAA	c.38T>C (p.Leu13Pro)

Number of alleles fetched