Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.47448830C>A	CA474220371	RAPSN	c.135G>T (p.Val45=)
11	g.47448830C>G	CA474220372	RAPSN	c.135G>C (p.Val45=)	COSMIC
11	g.47448830C>T	CA474220373	RAPSN	c.135G>A (p.Val45=)
11	g.47448831A>C	CA380336656	RAPSN	c.134T>G (p.Val45Gly)
11	g.47448831A>G	CA380336660	RAPSN	c.134T>C (p.Val45Ala)
11	g.47448831A>T	CA380336665	RAPSN	c.134T>A (p.Val45Glu)
11	g.47448832C>A	CA221723367	RAPSN	c.133G>T (p.Val45Leu)	ClinVar dbSNP gnomAD v4
11	g.47448832C=	CA1969379461	RAPSN	c.133G= (p.Val45=)
11	g.47448832C>G	CA221723373	RAPSN	c.133G>C (p.Val45Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448832C>T	CA119257	RAPSN	c.133G>A (p.Val45Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448833G>A	CA5976831	RAPSN	c.132C>T (p.Arg44=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448833G>C	CA474220377	RAPSN	c.132C>G (p.Arg44=)
11	g.47448833G=	CA1969379466	RAPSN	c.132C= (p.Arg44=)
11	g.47448833G>T	CA474220376	RAPSN	c.132C>A (p.Arg44=)
11	g.47448834C>A	CA380336668	RAPSN	c.131G>T (p.Arg44Leu)
11	g.47448834C=	CA1969379469	RAPSN	c.131G= (p.Arg44=)
11	g.47448834C>G	CA380336671	RAPSN	c.131G>C (p.Arg44Pro)
11	g.47448834C>T	CA5976832	RAPSN	c.131G>A (p.Arg44His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448835G>A	CA5976833	RAPSN	c.130C>T (p.Arg44Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448835G>C	CA380336685	RAPSN	c.130C>G (p.Arg44Gly)
11	g.47448835G=	CA1969379474	RAPSN	c.130C= (p.Arg44=)
11	g.47448835G>T	CA380336676	RAPSN	c.130C>A (p.Arg44Ser)
11	g.47448836del	CA2574817260	RAPSN	c.130del (p.Arg44AlafsTer20)	gnomAD v4
11	g.47448836G>A	CA474220378	RAPSN	c.129C>T (p.Phe43=)	gnomAD v4 COSMIC
11	g.47448836G>C	CA380336688	RAPSN	c.129C>G (p.Phe43Leu)
11	g.47448836G>T	CA380336691	RAPSN	c.129C>A (p.Phe43Leu)
11	g.47448837A>C	CA380336693	RAPSN	c.128T>G (p.Phe43Cys)
11	g.47448837A>G	CA380336694	RAPSN	c.128T>C (p.Phe43Ser)
11	g.47448837A>T	CA380336696	RAPSN	c.128T>A (p.Phe43Tyr)
11	g.47448838A=	CA1969379477	RAPSN	c.127T= (p.Phe43=)
11	g.47448838A>C	CA380336700	RAPSN	c.127T>G (p.Phe43Val)
11	g.47448838A>G	CA380336698	RAPSN	c.127T>C (p.Phe43Leu)	dbSNP gnomAD v2 gnomAD v4
11	g.47448838A>T	CA380336697	RAPSN	c.127T>A (p.Phe43Ile)
11	g.47448839G>A	CA474220380	RAPSN	c.126C>T (p.Arg42=)	gnomAD v4
11	g.47448839G>C	CA474220381	RAPSN	c.126C>G (p.Arg42=)
11	g.47448839G>T	CA474220382	RAPSN	c.126C>A (p.Arg42=)
11	g.47448840C>A	CA380336701	RAPSN	c.125G>T (p.Arg42Leu)
11	g.47448840C=	CA1969379479	RAPSN	c.125G= (p.Arg42=)
11	g.47448840C>G	CA380336704	RAPSN	c.125G>C (p.Arg42Pro)
11	g.47448840C>T	CA221723391	RAPSN	c.125G>A (p.Arg42His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448841G>A	CA5976834	RAPSN	c.124C>T (p.Arg42Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.47448841G>C	CA380336709	RAPSN	c.124C>G (p.Arg42Gly)
11	g.47448841G=	CA1969379481	RAPSN	c.124C= (p.Arg42=)
11	g.47448841G>T	CA380336710	RAPSN	c.124C>A (p.Arg42Ser)	gnomAD v4
11	g.47448842C>A	CA474220387	RAPSN	c.123G>T (p.Gly41=)
11	g.47448842C>G	CA474220389	RAPSN	c.123G>C (p.Gly41=)
11	g.47448842C>T	CA474220391	RAPSN	c.123G>A (p.Gly41=)	ClinVar
11	g.47448845dup	CA2574817261	RAPSN	c.123dup (p.Arg42AlafsTer?)
11	g.47448845del	CA2580084297	RAPSN	c.123del (p.Arg42AlafsTer22)	ClinVar
11	g.47448843C>A	CA380336712	RAPSN	c.122G>T (p.Gly41Val)

Number of alleles fetched