Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.64759690_64759692del	CA2580084888	PYGM	c.208_210del (p.Arg70del)	ClinVar
11	g.64759692G>A	CA475161275	PYGM	c.207C>T (p.Ile69=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759692G>C	CA381112067	PYGM	c.207C>G (p.Ile69Met)
11	g.64759692G=	CA1978929720	PYGM	c.207C= (p.Ile69=)
11	g.64759692G>T	CA475161276	PYGM	c.207C>A (p.Ile69=)
11	g.64759693A>C	CA381112071	PYGM	c.206T>G (p.Ile69Ser)
11	g.64759693A>G	CA381112074	PYGM	c.206T>C (p.Ile69Thr)
11	g.64759693A>T	CA381112077	PYGM	c.206T>A (p.Ile69Asn)
11	g.64759694T>A	CA381112078	PYGM	c.205A>T (p.Ile69Phe)
11	g.64759694T>C	CA381112079	PYGM	c.205A>G (p.Ile69Val)
11	g.64759694T>G	CA381112082	PYGM	c.205A>C (p.Ile69Leu)
11	g.64759694_64759702del	CA2792428935	PYGM	c.197_205del (p.Gly66_Ile69delinsVal)
11	g.64759695C>A	CA381112083	PYGM	c.204G>T (p.Trp68Cys)
11	g.64759695C=	CA1978929724	PYGM	c.204G= (p.Trp68=)
11	g.64759695C>G	CA381112093	PYGM	c.204G>C (p.Trp68Cys)
11	g.64759695C>T	CA16041507	PYGM	c.204G>A (p.Trp68Ter)	ClinVar dbSNP
11	g.64759696C>A	CA381112105	PYGM	c.203G>T (p.Trp68Leu)
11	g.64759696C>G	CA381112107	PYGM	c.203G>C (p.Trp68Ser)
11	g.64759696C>T	CA381112103	PYGM	c.203G>A (p.Trp68Ter)
11	g.64759697A>C	CA381112110	PYGM	c.202T>G (p.Trp68Gly)
11	g.64759697A>G	CA381112113	PYGM	c.202T>C (p.Trp68Arg)
11	g.64759697A>T	CA381112115	PYGM	c.202T>A (p.Trp68Arg)
11	g.64759698G>A	CA475161284	PYGM	c.201C>T (p.Arg67=)
11	g.64759698G>C	CA475161285	PYGM	c.201C>G (p.Arg67=)
11	g.64759698G=	CA1978929729	PYGM	c.201C= (p.Arg67=)
11	g.64759698G>T	CA475161286	PYGM	c.201C>A (p.Arg67=)	dbSNP
11	g.64759700_64759701del	CA912972830	PYGM	c.200_201del (p.Arg67LeufsTer10)
11	g.64759699C>A	CA381112117	PYGM	c.200G>T (p.Arg67Leu)
11	g.64759699C=	CA1978929733	PYGM	c.200G= (p.Arg67=)
11	g.64759699C>G	CA381112120	PYGM	c.200G>C (p.Arg67Pro)
11	g.64759699C>T	CA223889220	PYGM	c.200G>A (p.Arg67His)	dbSNP gnomAD v2 gnomAD v4
11	g.64759700G>A	CA6080345	PYGM	c.199C>T (p.Arg67Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759700G>C	CA381112130	PYGM	c.199C>G (p.Arg67Gly)	gnomAD v4
11	g.64759700G=	CA1978929735	PYGM	c.199C= (p.Arg67=)
11	g.64759700G>T	CA381112132	PYGM	c.199C>A (p.Arg67Ser)
11	g.64759700_64759701delinsGC	CA1978929736	PYGM	c.198_199delinsGC (p.Gly66=)
11	g.64759701C>A	CA475161289	PYGM	c.198G>T (p.Gly66=)
11	g.64759701C=	CA1978929741	PYGM	c.198G= (p.Gly66=)
11	g.64759701C>G	CA6080347	PYGM	c.198G>C (p.Gly66=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759701C>T	CA475161290	PYGM	c.198G>A (p.Gly66=)	gnomAD v4
11	g.64759704del	CA6080346	PYGM	c.198del (p.Arg67AlafsTer22) c.198del (p.Arg67AlafsTer?)	ClinVar dbSNP ExAC gnomAD v2
11	g.64759702C>A	CA6080348	PYGM	c.197G>T (p.Gly66Val)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759702C=	CA1978929744	PYGM	c.197G= (p.Gly66=)
11	g.64759702C>G	CA381112163	PYGM	c.197G>C (p.Gly66Ala)
11	g.64759702C>T	CA381112145	PYGM	c.197G>A (p.Gly66Glu)
11	g.64759703C>A	CA381112174	PYGM	c.196G>T (p.Gly66Trp)
11	g.64759703C>G	CA381112178	PYGM	c.196G>C (p.Gly66Arg)
11	g.64759703C>T	CA381112182	PYGM	c.196G>A (p.Gly66Arg)	gnomAD v4
11	g.64759704C>A	CA475161292	PYGM	c.195G>T (p.Val65=)
11	g.64759704C>G	CA475161293	PYGM	c.195G>C (p.Val65=)

Number of alleles fetched