Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.64759748_64759770delinsCTCGTGGGGTGGCCACATTGCGG	CA1978929868	PYGM	c.129_151delinsCCGCAATGTGGCCACCCCACGAG (p.Asp43=)
11	g.64759751_64759772del	CA916083248	PYGM	c.129_150del (p.Asp43GlufsTer?)	ClinVar dbSNP gnomAD v4
11	g.64759751G>A	CA222884	PYGM	c.148C>T (p.Arg50Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759751G>C	CA381112525	PYGM	c.148C>G (p.Arg50Gly)	dbSNP
11	g.64759751G=	CA1978929887	PYGM	c.148C= (p.Arg50=)
11	g.64759751G>T	CA475161362	PYGM	c.148C>A (p.Arg50=)
11	g.64759752T>A	CA475161365	PYGM	c.147A>T (p.Pro49=)
11	g.64759752T>C	CA475161364	PYGM	c.147A>G (p.Pro49=)	gnomAD v4
11	g.64759752T>G	CA475161363	PYGM	c.147A>C (p.Pro49=)
11	g.64759753G>A	CA381112526	PYGM	c.146C>T (p.Pro49Leu)
11	g.64759753G>C	CA381112528	PYGM	c.146C>G (p.Pro49Arg)
11	g.64759753G=	CA1978929893	PYGM	c.146C= (p.Pro49=)
11	g.64759753G>T	CA6080359	PYGM	c.146C>A (p.Pro49Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759754G>A	CA381112531	PYGM	c.145C>T (p.Pro49Ser)
11	g.64759754G>C	CA381112535	PYGM	c.145C>G (p.Pro49Ala)
11	g.64759754G=	CA1978929899	PYGM	c.145C= (p.Pro49=)
11	g.64759754G>T	CA381112533	PYGM	c.145C>A (p.Pro49Thr)
11	g.64759755G>A	CA475161367	PYGM	c.144C>T (p.Thr48=)
11	g.64759755G>C	CA475161368	PYGM	c.144C>G (p.Thr48=)	dbSNP gnomAD v3 gnomAD v4
11	g.64759755G=	CA1978929901	PYGM	c.144C= (p.Thr48=)
11	g.64759755G>T	CA475161370	PYGM	c.144C>A (p.Thr48=)
11	g.64759758_64759771dup	CA6080360	PYGM	c.131_144dup (p.Pro49AlafsTer?)	dbSNP ExAC gnomAD v2
11	g.64759756G>A	CA381112544	PYGM	c.143C>T (p.Thr48Ile)
11	g.64759756G>C	CA381112549	PYGM	c.143C>G (p.Thr48Ser)
11	g.64759756G>T	CA381112563	PYGM	c.143C>A (p.Thr48Asn)
11	g.64759757T>A	CA381112566	PYGM	c.142A>T (p.Thr48Ser)
11	g.64759757T>C	CA381112570	PYGM	c.142A>G (p.Thr48Ala)	dbSNP gnomAD v4
11	g.64759757T>G	CA381112568	PYGM	c.142A>C (p.Thr48Pro)
11	g.64759757T=	CA1978929906	PYGM	c.142A= (p.Thr48=)
11	g.64759758G>A	CA6080361	PYGM	c.141C>T (p.Ala47=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759758G>C	CA475161374	PYGM	c.141C>G (p.Ala47=)
11	g.64759758G=	CA1978929908	PYGM	c.141C= (p.Ala47=)
11	g.64759758G>T	CA475161375	PYGM	c.141C>A (p.Ala47=)
11	g.64759759dup	CA2574865066	PYGM	c.141dup (p.Thr48HisfsTer30)
11	g.64759759del	CA2580084890	PYGM	c.141del (p.Thr48ProfsTer?)	ClinVar
11	g.64759759G>A	CA381112575	PYGM	c.140C>T (p.Ala47Val)
11	g.64759759G>C	CA381112580	PYGM	c.140C>G (p.Ala47Gly)
11	g.64759759G>T	CA381112583	PYGM	c.140C>A (p.Ala47Asp)
11	g.64759760C>A	CA381112586	PYGM	c.139G>T (p.Ala47Ser)
11	g.64759760C=	CA1978929912	PYGM	c.139G= (p.Ala47=)
11	g.64759760C>G	CA381112588	PYGM	c.139G>C (p.Ala47Pro)
11	g.64759760C>T	CA381112591	PYGM	c.139G>A (p.Ala47Thr)	dbSNP gnomAD v3 gnomAD v4
11	g.64759761C>A	CA475161379	PYGM	c.138G>T (p.Val46=)
11	g.64759761C=	CA1978929915	PYGM	c.138G= (p.Val46=)
11	g.64759761C>G	CA6080363	PYGM	c.138G>C (p.Val46=)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759761C>T	CA6080362	PYGM	c.138G>A (p.Val46=)	ClinVar dbSNP ExAC gnomAD v2
11	g.64759762A>C	CA381112607	PYGM	c.137T>G (p.Val46Gly)
11	g.64759762A>G	CA381112609	PYGM	c.137T>C (p.Val46Ala)
11	g.64759762A>T	CA381112613	PYGM	c.137T>A (p.Val46Glu)
11	g.64759763C>A	CA381112620	PYGM	c.136G>T (p.Val46Leu)

Number of alleles fetched