Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104170_80104729del	CA2697555214	GAA	c.-32-385_143del	ClinVar
17	g.80104604_80104611del	CA658795221	GAA	c.18_25del (p.Cys8ProfsTer24)
17	g.80104608T>A	CA401359909	GAA	c.22T>A (p.Cys8Ser)
17	g.80104608T>C	CA401359912	GAA	c.22T>C (p.Cys8Arg)
17	g.80104608T>G	CA401359914	GAA	c.22T>G (p.Cys8Gly)
17	g.80104609G>A	CA8814758	GAA	c.23G>A (p.Cys8Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104609G>C	CA401359917	GAA	c.23G>C (p.Cys8Ser)
17	g.80104609G=	CA2277810538	GAA	c.23G= (p.Cys8=)
17	g.80104609G>T	CA401359919	GAA	c.23G>T (p.Cys8Phe)	gnomAD v4
17	g.80104610C>A	CA401359921	GAA	c.24C>A (p.Cys8Ter)
17	g.80104610C>G	CA401359924	GAA	c.24C>G (p.Cys8Trp)
17	g.80104610C>T	CA502176915	GAA	c.24C>T (p.Cys8=)	ClinVar
17	g.80104611del	CA658795222	GAA	c.25del (p.Ser9ProfsTer?)
17	g.80104611T>A	CA401359930	GAA	c.25T>A (p.Ser9Thr)
17	g.80104611T>C	CA10604542	GAA	c.25T>C (p.Ser9Pro)	ClinVar dbSNP
17	g.80104611T>G	CA401359927	GAA	c.25T>G (p.Ser9Ala)
17	g.80104611T=	CA2277810539	GAA	c.25T= (p.Ser9=)
17	g.80104612C>A	CA401359933	GAA	c.26C>A (p.Ser9Tyr)	gnomAD v4
17	g.80104612C=	CA2277810540	GAA	c.26C= (p.Ser9=)
17	g.80104612C>G	CA401359938	GAA	c.26C>G (p.Ser9Cys)	ClinVar dbSNP
17	g.80104612C>T	CA401359935	GAA	c.26C>T (p.Ser9Phe)	ClinVar dbSNP
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)

Number of alleles fetched