Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418895_219418913del	CA2754326441	DES	c.433_451del (p.Gly145TrpfsTer?)
2	g.219418903G>A	CA431427794	DES	c.441G>A (p.Glu147=)	dbSNP gnomAD v4
2	g.219418903G>C	CA350686229	DES	c.441G>C (p.Glu147Asp)
2	g.219418903G=	CA1329210072	DES	c.441G= (p.Glu147=)
2	g.219418903G>T	CA350686231	DES	c.441G>T (p.Glu147Asp)
2	g.219418904C>A	CA350686235	DES	c.442C>A (p.Pro148Thr)	gnomAD v4
2	g.219418904C>G	CA350686238	DES	c.442C>G (p.Pro148Ala)
2	g.219418904C>T	CA350686241	DES	c.442C>T (p.Pro148Ser)	gnomAD v4
2	g.219418905C>A	CA350686246	DES	c.443C>A (p.Pro148Gln)	gnomAD v4
2	g.219418905C=	CA1329210073	DES	c.443C= (p.Pro148=)
2	g.219418905C>G	CA350686250	DES	c.443C>G (p.Pro148Arg)
2	g.219418905C>T	CA65981255	DES	c.443C>T (p.Pro148Leu)	dbSNP gnomAD v4
2	g.219418906G>A	CA431427798	DES	c.444G>A (p.Pro148=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418906G>C	CA2125069	DES	c.444G>C (p.Pro148=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418906G=	CA1329210074	DES	c.444G= (p.Pro148=)
2	g.219418906G>T	CA431427800	DES	c.444G>T (p.Pro148=)	dbSNP gnomAD v4
2	g.219418907A=	CA1329210075	DES	c.445A= (p.Thr149=)
2	g.219418907A>C	CA350686261	DES	c.445A>C (p.Thr149Pro)
2	g.219418907A>G	CA350686265	DES	c.445A>G (p.Thr149Ala)
2	g.219418907A>T	CA350686269	DES	c.445A>T (p.Thr149Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.219418908C>A	CA350686281	DES	c.446C>A (p.Thr149Lys)
2	g.219418908C=	CA1329210076	DES	c.446C= (p.Thr149=)
2	g.219418908C>G	CA350686276	DES	c.446C>G (p.Thr149Arg)	ClinVar gnomAD v4
2	g.219418908C>T	CA350686272	DES	c.446C>T (p.Thr149Met)	dbSNP gnomAD v3 gnomAD v4
2	g.219418909G>A	CA431427807	DES	c.447G>A (p.Thr149=)	ClinVar gnomAD v4
2	g.219418909G>C	CA431427806	DES	c.447G>C (p.Thr149=)	ClinVar dbSNP
2	g.219418909G=	CA1329210077	DES	c.447G= (p.Thr149=)
2	g.219418909G>T	CA431427805	DES	c.447G>T (p.Thr149=)	dbSNP gnomAD v4
2	g.219418910C>A	CA431427808	DES	c.448C>A (p.Arg150=)	gnomAD v4
2	g.219418910C>G	CA350686287	DES	c.448C>G (p.Arg150Gly)
2	g.219418910C>T	CA350686291	DES	c.448C>T (p.Arg150Ter)
2	g.219418914_219418921del	CA2499215677	DES	c.452_459del (p.Val151AlafsTer18) c.452_459del (p.Val151AlafsTer24)	ClinVar dbSNP
2	g.219418911G>A	CA10581142	DES	c.449G>A (p.Arg150Gln)	ClinVar dbSNP gnomAD v4
2	g.219418911G>C	CA350686296	DES	c.449G>C (p.Arg150Pro)	gnomAD v4
2	g.219418911G=	CA1329210078	DES	c.449G= (p.Arg150=)
2	g.219418911G>T	CA350686298	DES	c.449G>T (p.Arg150Leu)	gnomAD v4
2	g.219418912A=	CA1329210079	DES	c.450A= (p.Arg150=)
2	g.219418912A>C	CA431427814	DES	c.450A>C (p.Arg150=)	ClinVar dbSNP
2	g.219418912A>G	CA431427817	DES	c.450A>G (p.Arg150=)	dbSNP
2	g.219418912A>T	CA431427815	DES	c.450A>T (p.Arg150=)
2	g.219418913G>A	CA350686307	DES	c.451G>A (p.Val151Met)	gnomAD v4
2	g.219418913G>C	CA350686303	DES	c.451G>C (p.Val151Leu)
2	g.219418913G>T	CA350686300	DES	c.451G>T (p.Val151Leu)
2	g.219418914T>A	CA350686313	DES	c.452T>A (p.Val151Glu)
2	g.219418914T>C	CA350686316	DES	c.452T>C (p.Val151Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.219418914T>G	CA350686321	DES	c.452T>G (p.Val151Gly)
2	g.219418914T=	CA1329210080	DES	c.452T= (p.Val151=)
2	g.219418915G>A	CA431427820	DES	c.453G>A (p.Val151=)	gnomAD v4
2	g.219418915G>C	CA431427821	DES	c.453G>C (p.Val151=)	dbSNP

Number of alleles fetched