Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104170_80104729del	CA2697555214	GAA	c.-32-385_143del	ClinVar
17	g.80104713A>C	CA401360300	GAA	c.127A>C (p.Ser43Arg)
17	g.80104713A>G	CA401360301	GAA	c.127A>G (p.Ser43Gly)
17	g.80104713A>T	CA401360299	GAA	c.127A>T (p.Ser43Cys)
17	g.80104714G>A	CA401360302	GAA	c.128G>A (p.Ser43Asn)	gnomAD v4
17	g.80104714G>C	CA401360303	GAA	c.128G>C (p.Ser43Thr)	gnomAD v4
17	g.80104714G>T	CA401360304	GAA	c.128G>T (p.Ser43Ile)
17	g.80104715T>A	CA401360305	GAA	c.129T>A (p.Ser43Arg)
17	g.80104715T>C	CA502177130	GAA	c.129T>C (p.Ser43=)	gnomAD v4
17	g.80104715T>G	CA401360306	GAA	c.129T>G (p.Ser43Arg)
17	g.80104716G>A	CA401360307	GAA	c.130G>A (p.Gly44Ser)
17	g.80104716G>C	CA401360308	GAA	c.130G>C (p.Gly44Arg)
17	g.80104716G>T	CA401360309	GAA	c.130G>T (p.Gly44Cys)
17	g.80104717G>A	CA401360310	GAA	c.131G>A (p.Gly44Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.80104717G>C	CA401360311	GAA	c.131G>C (p.Gly44Ala)
17	g.80104717G=	CA2277810599	GAA	c.131G= (p.Gly44=)
17	g.80104717G>T	CA8814793	GAA	c.131G>T (p.Gly44Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104718C>A	CA502177131	GAA	c.132C>A (p.Gly44=)
17	g.80104718C>G	CA502177132	GAA	c.132C>G (p.Gly44=)
17	g.80104718C>T	CA502177133	GAA	c.132C>T (p.Gly44=)	ClinVar dbSNP gnomAD v4
17	g.80104719del	CA2695200346	GAA	c.133del (p.Ser45ProfsTer?)	ClinVar
17	g.80104719T>A	CA401360313	GAA	c.133T>A (p.Ser45Thr)
17	g.80104719T>C	CA401360314	GAA	c.133T>C (p.Ser45Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104719T>G	CA401360312	GAA	c.133T>G (p.Ser45Ala)	ClinVar dbSNP
17	g.80104719T=	CA2277810600	GAA	c.133T= (p.Ser45=)
17	g.80104720C>A	CA401360315	GAA	c.134C>A (p.Ser45Tyr)
17	g.80104720C=	CA2277810601	GAA	c.134C= (p.Ser45=)
17	g.80104720C>G	CA401360316	GAA	c.134C>G (p.Ser45Cys)	dbSNP gnomAD v2 gnomAD v4
17	g.80104720C>T	CA401360317	GAA	c.134C>T (p.Ser45Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104721C>A	CA502177134	GAA	c.135C>A (p.Ser45=)
17	g.80104721C>G	CA502177135	GAA	c.135C>G (p.Ser45=)
17	g.80104721C>T	CA502177136	GAA	c.135C>T (p.Ser45=)	ClinVar dbSNP
17	g.80104722T>A	CA401360318	GAA	c.136T>A (p.Ser46Thr)
17	g.80104722T>C	CA8814794	GAA	c.136T>C (p.Ser46Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104722T>G	CA401360319	GAA	c.136T>G (p.Ser46Ala)
17	g.80104722T=	CA2277810602	GAA	c.136T= (p.Ser46=)
17	g.80104723C>A	CA401360320	GAA	c.137C>A (p.Ser46Tyr)
17	g.80104723C=	CA2277810603	GAA	c.137C= (p.Ser46=)
17	g.80104723C>G	CA401360322	GAA	c.137C>G (p.Ser46Cys)
17	g.80104723C>T	CA401360321	GAA	c.137C>T (p.Ser46Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.80104724C>A	CA502177137	GAA	c.138C>A (p.Ser46=)
17	g.80104724C=	CA2277810604	GAA	c.138C= (p.Ser46=)
17	g.80104724C>G	CA502177138	GAA	c.138C>G (p.Ser46=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104724C>T	CA8814795	GAA	c.138C>T (p.Ser46=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104725C>A	CA401360323	GAA	c.139C>A (p.Pro47Thr)
17	g.80104725C=	CA2277810605	GAA	c.139C= (p.Pro47=)
17	g.80104725C>G	CA401360324	GAA	c.139C>G (p.Pro47Ala)
17	g.80104725C>T	CA294886602	GAA	c.139C>T (p.Pro47Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.80104726C>A	CA401360327	GAA	c.140C>A (p.Pro47Gln)
17	g.80104726C>G	CA401360326	GAA	c.140C>G (p.Pro47Arg)

Number of alleles fetched