Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80107612_80107623del	CA2640279336	GAA	c.748_759del (p.Thr250_Pro253del)	gnomAD v4
17	g.80107619_80107627del	CA2640279352	GAA	c.755_763del (p.Leu252_Ser254del)	gnomAD v4
17	g.80107616_80107625delinsTGCTGCCCTT	CA2695227069	GAA	c.752_761delinsTGCTGCCCTT (p.Ser251_Ser254delinsLeuLeuProLeu)
17	g.80107619T>A	CA401363329	GAA	c.755T>A (p.Leu252Gln)
17	g.80107619T>C	CA401363327	GAA	c.755T>C (p.Leu252Pro)
17	g.80107619T>G	CA401363326	GAA	c.755T>G (p.Leu252Arg)
17	g.80107619dup	CA658824779	GAA	c.755dup (p.Pro253AlafsTer?)	ClinVar dbSNP
17	g.80107620G>A	CA502402628	GAA	c.756G>A (p.Leu252=)	ClinVar gnomAD v4
17	g.80107620G>C	CA502402629	GAA	c.756G>C (p.Leu252=)
17	g.80107620G>T	CA502402630	GAA	c.756G>T (p.Leu252=)
17	g.80107620_80107621delinsGC	CA2277812262	GAA	c.756_757delinsGC (p.Leu252=)
17	g.80107620_80107621insT	CA2695227070	GAA	c.756_757insT (p.Pro253SerfsTer?)
17	g.80107621C>A	CA401363333	GAA	c.757C>A (p.Pro253Thr)
17	g.80107621C>G	CA401363335	GAA	c.757C>G (p.Pro253Ala)
17	g.80107621C>T	CA401363337	GAA	c.757C>T (p.Pro253Ser)	ClinVar dbSNP gnomAD v4
17	g.80107623del	CA916082438	GAA	c.759del (p.Ser254ArgfsTer14)	ClinVar dbSNP gnomAD v4
17	g.80107622C>A	CA401363342	GAA	c.758C>A (p.Pro253His)	gnomAD v4
17	g.80107622C=	CA2277812263	GAA	c.758C= (p.Pro253=)
17	g.80107622C>G	CA401363344	GAA	c.758C>G (p.Pro253Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107622C>T	CA401363346	GAA	c.758C>T (p.Pro253Leu)
17	g.80107623_80107627del	CA2499225002	GAA	c.759_763del (p.Ser254ValfsTer?)	dbSNP
17	g.80107623C>A	CA502402633	GAA	c.759C>A (p.Pro253=)
17	g.80107623C=	CA2277812264	GAA	c.759C= (p.Pro253=)
17	g.80107623C>G	CA502402634	GAA	c.759C>G (p.Pro253=)
17	g.80107623C>T	CA502402635	GAA	c.759C>T (p.Pro253=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107624T>A	CA401363351	GAA	c.760T>A (p.Ser254Thr)
17	g.80107624T>C	CA401363355	GAA	c.760T>C (p.Ser254Pro)
17	g.80107624T>G	CA401363356	GAA	c.760T>G (p.Ser254Ala)
17	g.80107625C>A	CA401363360	GAA	c.761C>A (p.Ser254Ter)
17	g.80107625C=	CA2277812265	GAA	c.761C= (p.Ser254=)
17	g.80107625C>G	CA401363363	GAA	c.761C>G (p.Ser254Trp)	gnomAD v4
17	g.80107625C>T	CA8815009	GAA	c.761C>T (p.Ser254Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107626G>A	CA8815010	GAA	c.762G>A (p.Ser254=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107626G>C	CA502402638	GAA	c.762G>C (p.Ser254=)	gnomAD v4
17	g.80107626G=	CA2277812266	GAA	c.762G= (p.Ser254=)
17	g.80107626G>T	CA502402639	GAA	c.762G>T (p.Ser254=)
17	g.80107627C>A	CA401363375	GAA	c.763C>A (p.Gln255Lys)
17	g.80107627C=	CA2277812267	GAA	c.763C= (p.Gln255=)
17	g.80107627C>G	CA401363373	GAA	c.763C>G (p.Gln255Glu)
17	g.80107627C>T	CA401363371	GAA	c.763C>T (p.Gln255Ter)	ClinVar dbSNP
17	g.80107628A=	CA2277812269	GAA	c.764A= (p.Gln255=)
17	g.80107628A>C	CA401363381	GAA	c.764A>C (p.Gln255Pro)
17	g.80107628A>G	CA401363379	GAA	c.764A>G (p.Gln255Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107628A>T	CA401363384	GAA	c.764A>T (p.Gln255Leu)
17	g.80107628_80107647delinsAGTATATCACAGGCCTCGCC	CA2277812268	GAA	c.764_783delinsAGTATATCACAGGCCTCGCC (p.Gln255=)
17	g.80107629G>A	CA502402642	GAA	c.765G>A (p.Gln255=)	ClinVar dbSNP gnomAD v4
17	g.80107629G>C	CA401363387	GAA	c.765G>C (p.Gln255His)
17	g.80107629G=	CA2277812271	GAA	c.765G= (p.Gln255=)
17	g.80107629G>T	CA401363390	GAA	c.765G>T (p.Gln255His)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched