Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.232523492G>A	CA350991077	PRSS56	c.926G>A (p.Trp309Ter)
2	g.232523492G>C	CA129652	PRSS56	c.926G>C (p.Trp309Ser)	ClinVar dbSNP gnomAD v4
2	g.232523492G=	CA1335307934	PRSS56	c.926G= (p.Trp309=)
2	g.232523492G>T	CA350991078	PRSS56	c.926G>T (p.Trp309Leu)
2	g.232523497dup	CA540309954	PRSS56	c.931dup (p.Asp311GlyfsTer?)	dbSNP gnomAD v2 gnomAD v4
2	g.232523497del	CA2663619359	PRSS56	c.931del (p.Asp311ThrfsTer26)	gnomAD v4
2	g.232523493G>A	CA350991079	PRSS56	c.927G>A (p.Trp309Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.232523493G>C	CA350991080	PRSS56	c.927G>C (p.Trp309Cys)	dbSNP gnomAD v2 gnomAD v4
2	g.232523493G=	CA1335307935	PRSS56	c.927G= (p.Trp309=)
2	g.232523493G>T	CA350991083	PRSS56	c.927G>T (p.Trp309Cys)
2	g.232523494G>A	CA350991087	PRSS56	c.928G>A (p.Gly310Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.232523494G>C	CA350991092	PRSS56	c.928G>C (p.Gly310Arg)
2	g.232523494G=	CA1335307936	PRSS56	c.928G= (p.Gly310=)
2	g.232523494G>T	CA350991089	PRSS56	c.928G>T (p.Gly310Trp)
2	g.232523495G>A	CA350991105	PRSS56	c.929G>A (p.Gly310Glu)
2	g.232523495G>C	CA350991106	PRSS56	c.929G>C (p.Gly310Ala)	gnomAD v4
2	g.232523495G>T	CA350991107	PRSS56	c.929G>T (p.Gly310Val)
2	g.232523496G>A	CA431803222	PRSS56	c.930G>A (p.Gly310=)	gnomAD v4
2	g.232523496G>C	CA431803223	PRSS56	c.930G>C (p.Gly310=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.232523496G=	CA1335307937	PRSS56	c.930G= (p.Gly310=)
2	g.232523496G>T	CA431803224	PRSS56	c.930G>T (p.Gly310=)	gnomAD v4
2	g.232523497G>A	CA350991109	PRSS56	c.931G>A (p.Asp311Asn)	gnomAD v4
2	g.232523497G>C	CA350991116	PRSS56	c.931G>C (p.Asp311His)
2	g.232523497G>T	CA350991119	PRSS56	c.931G>T (p.Asp311Tyr)	COSMIC
2	g.232523498A>C	CA350991120	PRSS56	c.932A>C (p.Asp311Ala)	gnomAD v3 gnomAD v4
2	g.232523498A>G	CA350991121	PRSS56	c.932A>G (p.Asp311Gly)	gnomAD v4
2	g.232523498A>T	CA350991124	PRSS56	c.932A>T (p.Asp311Val)
2	g.232523498_232523499delinsAC	CA1335307938	PRSS56	c.932_933delinsAC (p.Asp311=)
2	g.232523499del	CA1335307939	PRSS56	c.933del (p.Asp311GlufsTer26)	dbSNP
2	g.232523499C>A	CA350991127	PRSS56	c.933C>A (p.Asp311Glu)	gnomAD v4
2	g.232523499C=	CA1335307940	PRSS56	c.933C= (p.Asp311=)
2	g.232523499C>G	CA350991130	PRSS56	c.933C>G (p.Asp311Glu)
2	g.232523499C>T	CA2167750	PRSS56	c.933C>T (p.Asp311=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.232523500G>A	CA350991133	PRSS56	c.934G>A (p.Gly312Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.232523500G>C	CA350991137	PRSS56	c.934G>C (p.Gly312Arg)
2	g.232523500G=	CA1335307941	PRSS56	c.934G= (p.Gly312=)
2	g.232523500G>T	CA350991131	PRSS56	c.934G>T (p.Gly312Cys)	gnomAD v4
2	g.232523501G>A	CA350991138	PRSS56	c.935G>A (p.Gly312Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.232523501G>C	CA350991139	PRSS56	c.935G>C (p.Gly312Ala)
2	g.232523501G=	CA1335307942	PRSS56	c.935G= (p.Gly312=)
2	g.232523501G>T	CA350991142	PRSS56	c.935G>T (p.Gly312Val)	gnomAD v4
2	g.232523502C>A	CA431803229	PRSS56	c.936C>A (p.Gly312=)
2	g.232523502C>G	CA431803230	PRSS56	c.936C>G (p.Gly312=)
2	g.232523502C>T	CA431803231	PRSS56	c.936C>T (p.Gly312=)
2	g.232523503T>A	CA350991145	PRSS56	c.937T>A (p.Cys313Ser)
2	g.232523503T>C	CA350991148	PRSS56	c.937T>C (p.Cys313Arg)	gnomAD v4
2	g.232523503T>G	CA350991152	PRSS56	c.937T>G (p.Cys313Gly)	gnomAD v4
2	g.232523504G>A	CA350991155	PRSS56	c.938G>A (p.Cys313Tyr)
2	g.232523504G>C	CA350991157	PRSS56	c.938G>C (p.Cys313Ser)
2	g.232523504G>T	CA350991156	PRSS56	c.938G>T (p.Cys313Phe)

Number of alleles fetched