Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108679_80116948del	CA913184754	GAA	c.1195-18_2190-20del c.1195-18_*328-20del
17	g.80108678_80116951del	CA658795244	GAA	c.1195-19_2190-17del c.1195-19_*328-17del	ClinVar
17	g.80110945T>A	CA401367188	GAA	c.1556T>A (p.Met519Lys)
17	g.80110945T>C	CA274402	GAA	c.1556T>C (p.Met519Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110945T>G	CA401367189	GAA	c.1556T>G (p.Met519Arg)
17	g.80110945T=	CA2277814182	GAA	c.1556T= (p.Met519=)
17	g.80110946G>A	CA401367190	GAA	c.1557G>A (p.Met519Ile)	ClinVar dbSNP
17	g.80110946G>C	CA401367191	GAA	c.1557G>C (p.Met519Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110946G=	CA2277814183	GAA	c.1557G= (p.Met519=)
17	g.80110946G>T	CA401367192	GAA	c.1557G>T (p.Met519Ile)
17	g.80110946_80110950dup	CA2499225013	GAA	c.1557_1561dup (p.Glu521GlyfsTer?)	ClinVar dbSNP
17	g.80110947A>C	CA401367193	GAA	c.1558A>C (p.Asn520His)
17	g.80110947A>G	CA401367194	GAA	c.1558A>G (p.Asn520Asp)
17	g.80110947A>T	CA401367195	GAA	c.1558A>T (p.Asn520Tyr)
17	g.80110948del	CA2573054603	GAA	c.1559del (p.Asn520ThrfsTer?)	ClinVar dbSNP
17	g.80110948A=	CA2277814184	GAA	c.1559A= (p.Asn520=)
17	g.80110948A>C	CA401367196	GAA	c.1559A>C (p.Asn520Thr)
17	g.80110948A>G	CA401367197	GAA	c.1559A>G (p.Asn520Ser)	ClinVar dbSNP
17	g.80110948A>T	CA401367198	GAA	c.1559A>T (p.Asn520Ile)
17	g.80110949del	CA2739268477	GAA	c.1560del (p.Asn520LysfsTer?)	ClinVar
17	g.80110949C>A	CA401367199	GAA	c.1560C>A (p.Asn520Lys)	gnomAD v4
17	g.80110949C=	CA2277814185	GAA	c.1560C= (p.Asn520=)
17	g.80110949C>G	CA401367200	GAA	c.1560C>G (p.Asn520Lys)
17	g.80110949C>T	CA8815385	GAA	c.1560C>T (p.Asn520=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110950del	CA2697555224	GAA	c.1561del (p.Glu521SerfsTer?)	ClinVar
17	g.80110950G>A	CA116593	GAA	c.1561G>A (p.Glu521Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80110950G>C	CA401367201	GAA	c.1561G>C (p.Glu521Gln)	ClinVar
17	g.80110950G=	CA2277814186	GAA	c.1561G= (p.Glu521=)
17	g.80110950G>T	CA401367202	GAA	c.1561G>T (p.Glu521Ter)
17	g.80110951A=	CA2277814187	GAA	c.1562A= (p.Glu521=)
17	g.80110951A>C	CA401367203	GAA	c.1562A>C (p.Glu521Ala)
17	g.80110951A>G	CA401367204	GAA	c.1562A>G (p.Glu521Gly)
17	g.80110951A>T	CA401367205	GAA	c.1562A>T (p.Glu521Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110952G>A	CA502178688	GAA	c.1563G>A (p.Glu521=)
17	g.80110952G>C	CA401367206	GAA	c.1563G>C (p.Glu521Asp)
17	g.80110952G>T	CA401367207	GAA	c.1563G>T (p.Glu521Asp)
17	g.80110952_80110953insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGT	CA986707383	GAA	c.1563_1564insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGT (p.Pro522LysfsTer5)
17	g.80110953C>A	CA401367208	GAA	c.1564C>A (p.Pro522Thr)	ClinVar dbSNP gnomAD v4
17	g.80110953C=	CA2277814188	GAA	c.1564C= (p.Pro522=)
17	g.80110953C>G	CA16041893	GAA	c.1564C>G (p.Pro522Ala)	ClinVar dbSNP gnomAD v4
17	g.80110953C>T	CA294895008	GAA	c.1564C>T (p.Pro522Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110954C>A	CA401367209	GAA	c.1565C>A (p.Pro522His)
17	g.80110954C>G	CA401367211	GAA	c.1565C>G (p.Pro522Arg)
17	g.80110954C>T	CA401367210	GAA	c.1565C>T (p.Pro522Leu)	ClinVar dbSNP
17	g.80110954_80110955delinsCT	CA2277814189	GAA	c.1565_1566delinsCT (p.Pro522=)
17	g.80110955T>A	CA502178691	GAA	c.1566T>A (p.Pro522=)
17	g.80110955T>C	CA502178690	GAA	c.1566T>C (p.Pro522=)
17	g.80110955T>G	CA502178689	GAA	c.1566T>G (p.Pro522=)
17	g.80110956del	CA16041894	GAA	c.1567del (p.Ser523ProfsTer?)	ClinVar dbSNP
17	g.80110956T>A	CA401367212	GAA	c.1567T>A (p.Ser523Thr)

Number of alleles fetched