Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418465_219418509del	CA2663248423	DES	c.3_47del (p.Met1_Arg16delinsIle)	gnomAD v4
2	g.219418466_219418517dup	CA2663248413	DES	c.4_55dup (p.Gly19GlufsTer42)	gnomAD v4
2	g.219418492C>A	CA10603904	DES	c.30C>A (p.Arg10=)	ClinVar dbSNP
2	g.219418492C=	CA1329209810	DES	c.30C= (p.Arg10=)
2	g.219418492C>G	CA431284008	DES	c.30C>G (p.Arg10=)
2	g.219418492C>T	CA431284009	DES	c.30C>T (p.Arg10=)	ClinVar dbSNP gnomAD v4
2	g.219418493G>A	CA350682204	DES	c.31G>A (p.Val11Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418493G>C	CA350682208	DES	c.31G>C (p.Val11Leu)	gnomAD v4
2	g.219418493G=	CA1329209811	DES	c.31G= (p.Val11=)
2	g.219418493G>T	CA350682207	DES	c.31G>T (p.Val11Leu)	ClinVar gnomAD v4
2	g.219418494T>A	CA350682210	DES	c.32T>A (p.Val11Glu)
2	g.219418494T>C	CA350682212	DES	c.32T>C (p.Val11Ala)	ClinVar
2	g.219418494T>G	CA350682215	DES	c.32T>G (p.Val11Gly)
2	g.219418495G>A	CA431284011	DES	c.33G>A (p.Val11=)
2	g.219418495G>C	CA431284013	DES	c.33G>C (p.Val11=)
2	g.219418495G>T	CA431284015	DES	c.33G>T (p.Val11=)
2	g.219418496T>A	CA350682233	DES	c.34T>A (p.Ser12Thr)
2	g.219418496T>C	CA2125005	DES	c.34T>C (p.Ser12Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418496T>G	CA350682239	DES	c.34T>G (p.Ser12Ala)
2	g.219418496T=	CA1329209812	DES	c.34T= (p.Ser12=)
2	g.219418497C>A	CA350682247	DES	c.35C>A (p.Ser12Tyr)
2	g.219418497C=	CA1329209813	DES	c.35C= (p.Ser12=)
2	g.219418497C>G	CA350682251	DES	c.35C>G (p.Ser12Cys)
2	g.219418497C>T	CA217069	DES	c.35C>T (p.Ser12Phe)	ClinVar dbSNP gnomAD v4
2	g.219418498C>A	CA431284019	DES	c.36C>A (p.Ser12=)	gnomAD v4
2	g.219418498C>G	CA431284020	DES	c.36C>G (p.Ser12=)
2	g.219418498C>T	CA431284021	DES	c.36C>T (p.Ser12=)	ClinVar gnomAD v4
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418499T>A	CA350682264	DES	c.37T>A (p.Ser13Thr)
2	g.219418499T>C	CA350682267	DES	c.37T>C (p.Ser13Pro)	ClinVar dbSNP
2	g.219418499T>G	CA350682270	DES	c.37T>G (p.Ser13Ala)
2	g.219418499T=	CA1329209814	DES	c.37T= (p.Ser13=)
2	g.219418499_219418511delinsTCCTACCGCCGCA	CA1329209815	DES	c.37_49delinsTCCTACCGCCGCA (p.Ser13=)
2	g.219418500C>A	CA350682283	DES	c.38C>A (p.Ser13Tyr)	ClinVar dbSNP
2	g.219418500C=	CA1329209816	DES	c.38C= (p.Ser13=)
2	g.219418500C>G	CA350682275	DES	c.38C>G (p.Ser13Cys)
2	g.219418500C>T	CA261520	DES	c.38C>T (p.Ser13Phe)	ClinVar dbSNP
2	g.219418503_219418514del	CA1042519974	DES	c.41_52del (p.Tyr14_Thr17del)	dbSNP gnomAD v3 gnomAD v4
2	g.219418501C>A	CA431427411	DES	c.39C>A (p.Ser13=)	gnomAD v4
2	g.219418501C>G	CA431427412	DES	c.39C>G (p.Ser13=)	gnomAD v4
2	g.219418501C>T	CA431427413	DES	c.39C>T (p.Ser13=)
2	g.219418502del	CA2663248650	DES	c.40del (p.Tyr14ThrfsTer17)	gnomAD v4
2	g.219418502T>A	CA350682285	DES	c.40T>A (p.Tyr14Asn)
2	g.219418502T>C	CA2125006	DES	c.40T>C (p.Tyr14His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418502T>G	CA350682287	DES	c.40T>G (p.Tyr14Asp)
2	g.219418502T=	CA1329209817	DES	c.40T= (p.Tyr14=)
2	g.219418503A>C	CA350682294	DES	c.41A>C (p.Tyr14Ser)	dbSNP gnomAD v4
2	g.219418503A>G	CA350682296	DES	c.41A>G (p.Tyr14Cys)
2	g.219418503A>T	CA350682298	DES	c.41A>T (p.Tyr14Phe)
2	g.219418504C>A	CA350682306	DES	c.42C>A (p.Tyr14Ter)	dbSNP gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched