Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.64759707_64759747del	CA2792428936	PYGM	c.152_192del (p.Asp51GlyfsTer13)
11	g.64759738_64759741delinsAAGT	CA1978929845	PYGM	c.158_161delinsACTT (p.Tyr53=)
11	g.64759745_64759747dup	CA658822243	PYGM	c.158_160dup (p.Tyr53_Phe54insTyr)	ClinVar dbSNP gnomAD v4
11	g.64759745_64759747del	CA679278043	PYGM	c.158_160del (p.Tyr53del)	ClinVar dbSNP gnomAD v4
11	g.64759741T>A	CA381112453	PYGM	c.158A>T (p.Tyr53Phe)	gnomAD v4
11	g.64759741T>C	CA381112457	PYGM	c.158A>G (p.Tyr53Cys)
11	g.64759741T>G	CA381112459	PYGM	c.158A>C (p.Tyr53Ser)
11	g.64759742del	CA2573147417	PYGM	c.157del (p.Tyr53ThrfsTer?)	ClinVar dbSNP gnomAD v4
11	g.64759742A>C	CA381112467	PYGM	c.157T>G (p.Tyr53Asp)
11	g.64759742A>G	CA381112473	PYGM	c.157T>C (p.Tyr53His)	gnomAD v4
11	g.64759742A>T	CA381112461	PYGM	c.157T>A (p.Tyr53Asn)
11	g.64759743G>A	CA475161352	PYGM	c.156C>T (p.Tyr52=)	ClinVar
11	g.64759743G>C	CA381112475	PYGM	c.156C>G (p.Tyr52Ter)
11	g.64759743G>T	CA381112478	PYGM	c.156C>A (p.Tyr52Ter)
11	g.64759744T>A	CA381112481	PYGM	c.155A>T (p.Tyr52Phe)
11	g.64759744T>C	CA381112482	PYGM	c.155A>G (p.Tyr52Cys)
11	g.64759744T>G	CA381112487	PYGM	c.155A>C (p.Tyr52Ser)
11	g.64759745A=	CA1978929861	PYGM	c.154T= (p.Tyr52=)
11	g.64759745A>C	CA381112494	PYGM	c.154T>G (p.Tyr52Asp)	dbSNP
11	g.64759745A>G	CA381112490	PYGM	c.154T>C (p.Tyr52His)
11	g.64759745A>T	CA381112492	PYGM	c.154T>A (p.Tyr52Asn)
11	g.64759746G>A	CA475161356	PYGM	c.153C>T (p.Asp51=)
11	g.64759746G>C	CA381112495	PYGM	c.153C>G (p.Asp51Glu)
11	g.64759746G>T	CA381112497	PYGM	c.153C>A (p.Asp51Glu)
11	g.64759747T>A	CA381112502	PYGM	c.152A>T (p.Asp51Val)
11	g.64759747T>C	CA261238	PYGM	c.152A>G (p.Asp51Gly)	ClinVar dbSNP gnomAD v4
11	g.64759747T>G	CA381112509	PYGM	c.152A>C (p.Asp51Ala)
11	g.64759747T=	CA1978929866	PYGM	c.152A= (p.Asp51=)
11	g.64759748C>A	CA381112520	PYGM	c.151G>T (p.Asp51Tyr)
11	g.64759748C>G	CA381112517	PYGM	c.151G>C (p.Asp51His)
11	g.64759748C>T	CA381112514	PYGM	c.151G>A (p.Asp51Asn)
11	g.64759748_64759770delinsCTCGTGGGGTGGCCACATTGCGG	CA1978929868	PYGM	c.129_151delinsCCGCAATGTGGCCACCCCACGAG (p.Asp43=)
11	g.64759749T>A	CA475161358	PYGM	c.150A>T (p.Arg50=)
11	g.64759749T>C	CA223889280	PYGM	c.150A>G (p.Arg50=)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.64759749T>G	CA475161361	PYGM	c.150A>C (p.Arg50=)
11	g.64759749T=	CA1978929873	PYGM	c.150A= (p.Arg50=)
11	g.64759751_64759772del	CA916083248	PYGM	c.129_150del (p.Asp43GlufsTer?)	ClinVar dbSNP gnomAD v4
11	g.64759750C>A	CA381112522	PYGM	c.149G>T (p.Arg50Leu)
11	g.64759750C=	CA1978929878	PYGM	c.149G= (p.Arg50=)
11	g.64759750C>G	CA381112524	PYGM	c.149G>C (p.Arg50Pro)
11	g.64759750C>T	CA6080358	PYGM	c.149G>A (p.Arg50Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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)
11	g.64759763C>G	CA381112623	PYGM	c.136G>C (p.Val46Leu)
11	g.64759763C>T	CA381112618	PYGM	c.136G>A (p.Val46Met)	COSMIC
11	g.64759764A=	CA1978929921	PYGM	c.135T= (p.Asn45=)
11	g.64759764A>C	CA381112635	PYGM	c.135T>G (p.Asn45Lys)
11	g.64759764A>G	CA475161380	PYGM	c.135T>C (p.Asn45=)	ClinVar dbSNP gnomAD v4
11	g.64759764A>T	CA381112631	PYGM	c.135T>A (p.Asn45Lys)
11	g.64759765T>A	CA381112642	PYGM	c.134A>T (p.Asn45Ile)
11	g.64759765T>C	CA6080364	PYGM	c.134A>G (p.Asn45Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759765T>G	CA381112639	PYGM	c.134A>C (p.Asn45Thr)
11	g.64759765T=	CA1978929924	PYGM	c.134A= (p.Asn45=)
11	g.64759766del	CA2831038865	PYGM	c.134del (p.Asn45MetfsTer?)
11	g.64759766T>A	CA381112646	PYGM	c.133A>T (p.Asn45Tyr)
11	g.64759766T>C	CA381112647	PYGM	c.133A>G (p.Asn45Asp)
11	g.64759766T>G	CA381112650	PYGM	c.133A>C (p.Asn45His)
11	g.64759767_64759771del	CA2695214473	PYGM	c.129_133del (p.Asp43GlufsTer?)
11	g.64759767G>A	CA475161382	PYGM	c.132C>T (p.Arg44=)
11	g.64759767G>C	CA475161383	PYGM	c.132C>G (p.Arg44=)
11	g.64759767G=	CA1978929926	PYGM	c.132C= (p.Arg44=)
11	g.64759767G>T	CA475161384	PYGM	c.132C>A (p.Arg44=)	dbSNP
11	g.64759768C>A	CA381112652	PYGM	c.131G>T (p.Arg44Leu)
11	g.64759768C=	CA1978929929	PYGM	c.131G= (p.Arg44=)
11	g.64759768C>G	CA381112656	PYGM	c.131G>C (p.Arg44Pro)
11	g.64759768C>T	CA6080365	PYGM	c.131G>A (p.Arg44His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759769G>A	CA6080366	PYGM	c.130C>T (p.Arg44Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759769G>C	CA381112671	PYGM	c.130C>G (p.Arg44Gly)
11	g.64759769G=	CA1978929933	PYGM	c.130C= (p.Arg44=)
11	g.64759769G>T	CA381112673	PYGM	c.130C>A (p.Arg44Ser)
11	g.64759770G>A	CA475161388	PYGM	c.129C>T (p.Asp43=)
11	g.64759770G>C	CA381112678	PYGM	c.129C>G (p.Asp43Glu)
11	g.64759770G>T	CA381112680	PYGM	c.129C>A (p.Asp43Glu)
11	g.64759771T>A	CA381112683	PYGM	c.128A>T (p.Asp43Val)
11	g.64759771T>C	CA381112689	PYGM	c.128A>G (p.Asp43Gly)	gnomAD v4
11	g.64759771T>G	CA381112686	PYGM	c.128A>C (p.Asp43Ala)
11	g.64759771_64759786del	CA2574865076	PYGM	c.113_128del (p.Phe38SerfsTer?)
11	g.64759772C>A	CA381112693	PYGM	c.127G>T (p.Asp43Tyr)
11	g.64759772C>G	CA381112698	PYGM	c.127G>C (p.Asp43His)
11	g.64759772C>T	CA381112704	PYGM	c.127G>A (p.Asp43Asn)	gnomAD v4
11	g.64759773C>A	CA381112706	PYGM	c.126G>T (p.Lys42Asn)
11	g.64759773C>G	CA381112709	PYGM	c.126G>C (p.Lys42Asn)
11	g.64759773C>T	CA475161391	PYGM	c.126G>A (p.Lys42=)	ClinVar
11	g.64759774_64759778del	CA2574865078	PYGM	c.122_126del (p.Val41GlyfsTer?)	ClinVar gnomAD v4
11	g.64759774T>A	CA381112711	PYGM	c.125A>T (p.Lys42Met)
11	g.64759774T>C	CA381112713	PYGM	c.125A>G (p.Lys42Arg)
11	g.64759774T>G	CA381112715	PYGM	c.125A>C (p.Lys42Thr)
11	g.64759776del	CA2574865079	PYGM	c.125del (p.Lys42ArgfsTer?)	ClinVar
11	g.64759774_64759783delinsTTTACGAGTG	CA1978929935	PYGM	c.116_125delinsCACTCGTAAA (p.Thr39=)
11	g.64759775T>A	CA381112718	PYGM	c.124A>T (p.Lys42Ter)
11	g.64759775T>C	CA381112720	PYGM	c.124A>G (p.Lys42Glu)
11	g.64759775T>G	CA381112722	PYGM	c.124A>C (p.Lys42Gln)
11	g.64759776_64759784del	CA938842249	PYGM	c.116_124del (p.Thr39_Val41del)	dbSNP gnomAD v3 gnomAD v4
11	g.64759775_64759776insGG	CA2695214474	PYGM	c.123_124insCC (p.Lys42ProfsTer?)
11	g.64759776T>A	CA475161394	PYGM	c.123A>T (p.Val41=)
11	g.64759776T>C	CA475161395	PYGM	c.123A>G (p.Val41=)	dbSNP
11	g.64759776T>G	CA475161396	PYGM	c.123A>C (p.Val41=)
11	g.64759776T=	CA1978929939	PYGM	c.123A= (p.Val41=)
11	g.64759776_64759787delinsTACGAGTGTGAA	CA1978929938	PYGM	c.112_123delinsTTCACACTCGTA (p.Phe38=)
11	g.64759777A>C	CA381112740	PYGM	c.122T>G (p.Val41Gly)
11	g.64759777A>G	CA381112730	PYGM	c.122T>C (p.Val41Ala)
11	g.64759777A>T	CA381112728	PYGM	c.122T>A (p.Val41Glu)
11	g.64759778_64759788del	CA1139662020	PYGM	c.112_122del (p.Phe38LysfsTer?)	ClinVar dbSNP gnomAD v4
11	g.64759778C>A	CA381112750	PYGM	c.121G>T (p.Val41Leu)
11	g.64759778C=	CA1978929943	PYGM	c.121G= (p.Val41=)
11	g.64759778C>G	CA381112745	PYGM	c.121G>C (p.Val41Leu)
11	g.64759778C>T	CA6080367	PYGM	c.121G>A (p.Val41Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.64759778_64759779insT	CA2695198894	PYGM	c.120_121insA (p.Val41SerfsTer?)	ClinVar
11	g.64759779G>A	CA6080368	PYGM	c.120C>T (p.Leu40=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759779G>C	CA475161403	PYGM	c.120C>G (p.Leu40=)	ClinVar dbSNP
11	g.64759779G=	CA1978929946	PYGM	c.120C= (p.Leu40=)
11	g.64759779G>T	CA475161401	PYGM	c.120C>A (p.Leu40=)	ClinVar
11	g.64759780A>C	CA381112754	PYGM	c.119T>G (p.Leu40Arg)
11	g.64759780A>G	CA381112755	PYGM	c.119T>C (p.Leu40Pro)
11	g.64759780A>T	CA381112757	PYGM	c.119T>A (p.Leu40His)
11	g.64759781G>A	CA381112760	PYGM	c.118C>T (p.Leu40Phe)	gnomAD v4
11	g.64759781G>C	CA381112763	PYGM	c.118C>G (p.Leu40Val)
11	g.64759781G>T	CA381112765	PYGM	c.118C>A (p.Leu40Ile)
11	g.64759782T>A	CA475161410	PYGM	c.117A>T (p.Thr39=)
11	g.64759782T>C	CA475161408	PYGM	c.117A>G (p.Thr39=)	ClinVar dbSNP gnomAD v4
11	g.64759782T>G	CA475161406	PYGM	c.117A>C (p.Thr39=)	gnomAD v3 gnomAD v4
11	g.64759783G>A	CA223889352	PYGM	c.116C>T (p.Thr39Ile)	dbSNP gnomAD v4
11	g.64759783G>C	CA381112773	PYGM	c.116C>G (p.Thr39Arg)
11	g.64759783G=	CA1978929948	PYGM	c.116C= (p.Thr39=)
11	g.64759783G>T	CA381112776	PYGM	c.116C>A (p.Thr39Lys)
11	g.64759784T>A	CA381112783	PYGM	c.115A>T (p.Thr39Ser)
11	g.64759784T>C	CA6080369	PYGM	c.115A>G (p.Thr39Ala)	dbSNP ExAC gnomAD v2
11	g.64759784T>G	CA381112780	PYGM	c.115A>C (p.Thr39Pro)
11	g.64759784T=	CA1978929951	PYGM	c.115A= (p.Thr39=)
11	g.64759785G>A	CA6080370	PYGM	c.114C>T (p.Phe38=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759785G>C	CA381112790	PYGM	c.114C>G (p.Phe38Leu)
11	g.64759785G=	CA1978929953	PYGM	c.114C= (p.Phe38=)
11	g.64759785G>T	CA381112794	PYGM	c.114C>A (p.Phe38Leu)
11	g.64759786A>C	CA381112797	PYGM	c.113T>G (p.Phe38Cys)
11	g.64759786A>G	CA381112799	PYGM	c.113T>C (p.Phe38Ser)
11	g.64759786A>T	CA381112800	PYGM	c.113T>A (p.Phe38Tyr)
11	g.64759787A=	CA1978929955	PYGM	c.112T= (p.Phe38=)
11	g.64759787A>C	CA381112803	PYGM	c.112T>G (p.Phe38Val)
11	g.64759787A>G	CA381112808	PYGM	c.112T>C (p.Phe38Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759787A>T	CA381112806	PYGM	c.112T>A (p.Phe38Ile)
11	g.64759788A>C	CA381112812	PYGM	c.111T>G (p.His37Gln)
11	g.64759788A>G	CA475161320	PYGM	c.111T>C (p.His37=)	ClinVar dbSNP
11	g.64759788A>T	CA381112816	PYGM	c.111T>A (p.His37Gln)
11	g.64759789T>A	CA381112821	PYGM	c.110A>T (p.His37Leu)
11	g.64759789T>C	CA381112828	PYGM	c.110A>G (p.His37Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.64759789T>G	CA381112831	PYGM	c.110A>C (p.His37Pro)
11	g.64759789T=	CA1978929957	PYGM	c.110A= (p.His37=)
11	g.64759790G>A	CA381112836	PYGM	c.109C>T (p.His37Tyr)
11	g.64759790G>C	CA381112837	PYGM	c.109C>G (p.His37Asp)	dbSNP gnomAD v3 gnomAD v4
11	g.64759790G=	CA1978929958	PYGM	c.109C= (p.His37=)
11	g.64759790G>T	CA381112834	PYGM	c.109C>A (p.His37Asn)
11	g.64759791del	CA2574865090	PYGM	c.108del (p.His37IlefsTer5)	ClinVar
11	g.64759791C>A	CA475161323	PYGM	c.108G>T (p.Leu36=)	dbSNP gnomAD v4
11	g.64759791C=	CA1978929960	PYGM	c.108G= (p.Leu36=)
11	g.64759791C>G	CA475161324	PYGM	c.108G>C (p.Leu36=)
11	g.64759791C>T	CA475161326	PYGM	c.108G>A (p.Leu36=)
11	g.64759792A=	CA1978929963	PYGM	c.107T= (p.Leu36=)
11	g.64759792A>C	CA381112838	PYGM	c.107T>G (p.Leu36Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759792A>G	CA381112843	PYGM	c.107T>C (p.Leu36Pro)	gnomAD v4
11	g.64759792A>T	CA381112840	PYGM	c.107T>A (p.Leu36Gln)
11	g.64759793G>A	CA475161328	PYGM	c.106C>T (p.Leu36=)	ClinVar
11	g.64759793G>C	CA381112844	PYGM	c.106C>G (p.Leu36Val)
11	g.64759793G>T	CA381112847	PYGM	c.106C>A (p.Leu36Met)
11	g.64759794G>A	CA475161332	PYGM	c.105C>T (p.His35=)	ClinVar
11	g.64759794G>C	CA381112853	PYGM	c.105C>G (p.His35Gln)
11	g.64759794G=	CA1978929965	PYGM	c.105C= (p.His35=)
11	g.64759794G>T	CA381112854	PYGM	c.105C>A (p.His35Gln)	dbSNP
11	g.64759795T>A	CA381112855	PYGM	c.104A>T (p.His35Leu)
11	g.64759795T>C	CA381112856	PYGM	c.104A>G (p.His35Arg)
11	g.64759795T>G	CA381112857	PYGM	c.104A>C (p.His35Pro)
11	g.64759796G>A	CA381112859	PYGM	c.103C>T (p.His35Tyr)	dbSNP
11	g.64759796G>C	CA381112862	PYGM	c.103C>G (p.His35Asp)
11	g.64759796G=	CA1978929967	PYGM	c.103C= (p.His35=)
11	g.64759796G>T	CA381112865	PYGM	c.103C>A (p.His35Asn)
11	g.64759797C>A	CA475161336	PYGM	c.102G>T (p.Arg34=)
11	g.64759797C>G	CA475161337	PYGM	c.102G>C (p.Arg34=)
11	g.64759797C>T	CA475161338	PYGM	c.102G>A (p.Arg34=)
11	g.64759798C>A	CA381112873	PYGM	c.101G>T (p.Arg34Leu)	gnomAD v4
11	g.64759798C=	CA1978929969	PYGM	c.101G= (p.Arg34=)
11	g.64759798C>G	CA381112870	PYGM	c.101G>C (p.Arg34Pro)
11	g.64759798C>T	CA6080371	PYGM	c.101G>A (p.Arg34Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759798_64759800del	CA2614191921	PYGM	c.99_101del (p.Asn33_Arg34delinsLys)	gnomAD v4
11	g.64759799G>A	CA6080372	PYGM	c.100C>T (p.Arg34Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759799G>C	CA381112879	PYGM	c.100C>G (p.Arg34Gly)
11	g.64759799G=	CA1978929972	PYGM	c.100C= (p.Arg34=)
11	g.64759799G>T	CA475161342	PYGM	c.100C>A (p.Arg34=)	ClinVar dbSNP gnomAD v4
11	g.64759800G>A	CA475161345	PYGM	c.99C>T (p.Asn33=)
11	g.64759800G>C	CA381112886	PYGM	c.99C>G (p.Asn33Lys)	ClinVar
11	g.64759800G>T	CA381112889	PYGM	c.99C>A (p.Asn33Lys)
11	g.64759801T>A	CA381112891	PYGM	c.98A>T (p.Asn33Ile)
11	g.64759801T>C	CA10638975	PYGM	c.98A>G (p.Asn33Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759801T>G	CA381112895	PYGM	c.98A>C (p.Asn33Thr)
11	g.64759801T=	CA1978929975	PYGM	c.98A= (p.Asn33=)
11	g.64759802T>A	CA381112896	PYGM	c.97A>T (p.Asn33Tyr)
11	g.64759802T>C	CA381112897	PYGM	c.97A>G (p.Asn33Asp)
11	g.64759802T>G	CA381112898	PYGM	c.97A>C (p.Asn33His)
11	g.64759803G>A	CA475161347	PYGM	c.96C>T (p.Phe32=)	ClinVar
11	g.64759803G>C	CA381112899	PYGM	c.96C>G (p.Phe32Leu)
11	g.64759803G>T	CA381112900	PYGM	c.96C>A (p.Phe32Leu)
11	g.64759804A>C	CA381112903	PYGM	c.95T>G (p.Phe32Cys)
11	g.64759804A>G	CA381112904	PYGM	c.95T>C (p.Phe32Ser)
11	g.64759804A>T	CA381112901	PYGM	c.95T>A (p.Phe32Tyr)
11	g.64759805A>C	CA381112905	PYGM	c.94T>G (p.Phe32Val)
11	g.64759805A>G	CA381112907	PYGM	c.94T>C (p.Phe32Leu)	gnomAD v4
11	g.64759805A>T	CA381112911	PYGM	c.94T>A (p.Phe32Ile)
11	g.64759806G>A	CA475161351	PYGM	c.93C>T (p.Asn31=)
11	g.64759806G>C	CA381112913	PYGM	c.93C>G (p.Asn31Lys)
11	g.64759806G>T	CA381112915	PYGM	c.93C>A (p.Asn31Lys)
11	g.64759807T>A	CA381112920	PYGM	c.92A>T (p.Asn31Ile)
11	g.64759807T>C	CA381112924	PYGM	c.92A>G (p.Asn31Ser)
11	g.64759807T>G	CA381112926	PYGM	c.92A>C (p.Asn31Thr)
11	g.64759808T>A	CA381112930	PYGM	c.91A>T (p.Asn31Tyr)
11	g.64759808T>C	CA381112934	PYGM	c.91A>G (p.Asn31Asp)
11	g.64759808T>G	CA381112936	PYGM	c.91A>C (p.Asn31His)
11	g.64759809C>A	CA381112942	PYGM	c.90G>T (p.Lys30Asn)	gnomAD v4
11	g.64759809C>G	CA381112944	PYGM	c.90G>C (p.Lys30Asn)
11	g.64759809C>T	CA475161353	PYGM	c.90G>A (p.Lys30=)	gnomAD v4
11	g.64759810T>A	CA381112954	PYGM	c.89A>T (p.Lys30Met)
11	g.64759810T>C	CA6080373	PYGM	c.89A>G (p.Lys30Arg)	dbSNP ExAC gnomAD v2
11	g.64759810T>G	CA381112948	PYGM	c.89A>C (p.Lys30Thr)
11	g.64759810T=	CA1978929977	PYGM	c.89A= (p.Lys30=)
11	g.64759811T>A	CA381112956	PYGM	c.88A>T (p.Lys30Ter)
11	g.64759811T>C	CA381112958	PYGM	c.88A>G (p.Lys30Glu)
11	g.64759811T>G	CA381112961	PYGM	c.88A>C (p.Lys30Gln)
11	g.64759812T>A	CA381112962	PYGM	c.87A>T (p.Lys29Asn)
11	g.64759812T>C	CA475161355	PYGM	c.87A>G (p.Lys29=)
11	g.64759812T>G	CA381112963	PYGM	c.87A>C (p.Lys29Asn)
11	g.64759813T>A	CA381112964	PYGM	c.86A>T (p.Lys29Ile)
11	g.64759813T>C	CA381112965	PYGM	c.86A>G (p.Lys29Arg)	gnomAD v3 gnomAD v4
11	g.64759813T>G	CA381112966	PYGM	c.86A>C (p.Lys29Thr)
11	g.64759814T>A	CA381112970	PYGM	c.85A>T (p.Lys29Ter)
11	g.64759814T>C	CA381112973	PYGM	c.85A>G (p.Lys29Glu)
11	g.64759814T>G	CA381112975	PYGM	c.85A>C (p.Lys29Gln)
11	g.64759815C>A	CA475161357	PYGM	c.84G>T (p.Leu28=)
11	g.64759815C=	CA1978929981	PYGM	c.84G= (p.Leu28=)
11	g.64759815C>G	CA475161359	PYGM	c.84G>C (p.Leu28=)	dbSNP gnomAD v2 gnomAD v4
11	g.64759815C>T	CA6080374	PYGM	c.84G>A (p.Leu28=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759816A>C	CA381112984	PYGM	c.83T>G (p.Leu28Arg)
11	g.64759816A>G	CA381112980	PYGM	c.83T>C (p.Leu28Pro)	gnomAD v4
11	g.64759816A>T	CA381112979	PYGM	c.83T>A (p.Leu28Gln)
11	g.64759817G>A	CA475161366	PYGM	c.82C>T (p.Leu28=)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.64759817G>C	CA381112987	PYGM	c.82C>G (p.Leu28Val)	dbSNP gnomAD v4
11	g.64759817G=	CA1978929984	PYGM	c.82C= (p.Leu28=)
11	g.64759817G>T	CA381112990	PYGM	c.82C>A (p.Leu28Met)	dbSNP gnomAD v4
11	g.64759818C>A	CA381112991	PYGM	c.81G>T (p.Glu27Asp)
11	g.64759818C=	CA1978929987	PYGM	c.81G= (p.Glu27=)
11	g.64759818C>G	CA381112992	PYGM	c.81G>C (p.Glu27Asp)
11	g.64759818C>T	CA6080375	PYGM	c.81G>A (p.Glu27=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759819T>A	CA381112995	PYGM	c.80A>T (p.Glu27Val)
11	g.64759819T>C	CA381112997	PYGM	c.80A>G (p.Glu27Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759819T>G	CA381113004	PYGM	c.80A>C (p.Glu27Ala)
11	g.64759819T=	CA1978929991	PYGM	c.80A= (p.Glu27=)
11	g.64759819_64759821delinsTCA	CA1978929989	PYGM	c.78_80delinsTGA (p.Thr26=)
11	g.64759820C>A	CA381113009	PYGM	c.79G>T (p.Glu27Ter)
11	g.64759820C=	CA1978929994	PYGM	c.79G= (p.Glu27=)
11	g.64759820C>G	CA381113012	PYGM	c.79G>C (p.Glu27Gln)
11	g.64759820C>T	CA381113014	PYGM	c.79G>A (p.Glu27Lys)	dbSNP gnomAD v2 gnomAD v4
11	g.64759820_64759821del	CA273947	PYGM	c.78_79del (p.Glu27AlafsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759821A>C	CA475161371	PYGM	c.78T>G (p.Thr26=)
11	g.64759821A>G	CA475161372	PYGM	c.78T>C (p.Thr26=)
11	g.64759821A>T	CA475161373	PYGM	c.78T>A (p.Thr26=)
11	g.64759822G>A	CA381113026	PYGM	c.77C>T (p.Thr26Ile)	dbSNP
11	g.64759822G>C	CA6080376	PYGM	c.77C>G (p.Thr26Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759822G=	CA1978929996	PYGM	c.77C= (p.Thr26=)
11	g.64759822G>T	CA381113029	PYGM	c.77C>A (p.Thr26Asn)
11	g.64759823T>A	CA381113039	PYGM	c.76A>T (p.Thr26Ser)
11	g.64759823T>C	CA381113035	PYGM	c.76A>G (p.Thr26Ala)
11	g.64759823T>G	CA381113034	PYGM	c.76A>C (p.Thr26Pro)
11	g.64759823_64759832del	CA912972832	PYGM	c.67_76del (p.Glu23LeufsTer3)
11	g.64759823_64759832delinsTCACGTTCTC	CA1978929999	PYGM	c.67_76delinsGAGAACGTGA (p.Glu23=)
11	g.64759824C>A	CA475161376	PYGM	c.75G>T (p.Val25=)
11	g.64759824C>G	CA475161377	PYGM	c.75G>C (p.Val25=)
11	g.64759824C>T	CA475161378	PYGM	c.75G>A (p.Val25=)	ClinVar
11	g.64759828_64759836del	CA658822244	PYGM	c.67_75del (p.Glu23_Val25del)	ClinVar dbSNP gnomAD v4
11	g.64759825A>C	CA381113041	PYGM	c.74T>G (p.Val25Gly)
11	g.64759825A>G	CA381113044	PYGM	c.74T>C (p.Val25Ala)
11	g.64759825A>T	CA381113046	PYGM	c.74T>A (p.Val25Glu)
11	g.64759826C>A	CA381113047	PYGM	c.73G>T (p.Val25Leu)
11	g.64759826C=	CA1978930002	PYGM	c.73G= (p.Val25=)
11	g.64759826C>G	CA381113048	PYGM	c.73G>C (p.Val25Leu)
11	g.64759826C>T	CA6080377	PYGM	c.73G>A (p.Val25Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759827G>A	CA6080378	PYGM	c.72C>T (p.Asn24=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759827G>C	CA381113053	PYGM	c.72C>G (p.Asn24Lys)
11	g.64759827G=	CA1978930006	PYGM	c.72C= (p.Asn24=)
11	g.64759827G>T	CA381113055	PYGM	c.72C>A (p.Asn24Lys)
11	g.64759828T>A	CA381113056	PYGM	c.71A>T (p.Asn24Ile)
11	g.64759828T>C	CA381113058	PYGM	c.71A>G (p.Asn24Ser)
11	g.64759828T>G	CA381113059	PYGM	c.71A>C (p.Asn24Thr)
11	g.64759829T>A	CA381113063	PYGM	c.70A>T (p.Asn24Tyr)
11	g.64759829T>C	CA381113065	PYGM	c.70A>G (p.Asn24Asp)
11	g.64759829T>G	CA381113062	PYGM	c.70A>C (p.Asn24His)
11	g.64759830C>A	CA381113067	PYGM	c.69G>T (p.Glu23Asp)
11	g.64759830C=	CA1978930007	PYGM	c.69G= (p.Glu23=)
11	g.64759830C>G	CA381113068	PYGM	c.69G>C (p.Glu23Asp)	dbSNP
11	g.64759830C>T	CA475161381	PYGM	c.69G>A (p.Glu23=)
11	g.64759831T>A	CA381113070	PYGM	c.68A>T (p.Glu23Val)
11	g.64759831T>C	CA223889409	PYGM	c.68A>G (p.Glu23Gly)	dbSNP
11	g.64759831T>G	CA381113073	PYGM	c.68A>C (p.Glu23Ala)
11	g.64759831T=	CA1978930008	PYGM	c.68A= (p.Glu23=)
11	g.64759832C>A	CA381113075	PYGM	c.67G>T (p.Glu23Ter)
11	g.64759832C>G	CA381113076	PYGM	c.67G>C (p.Glu23Gln)
11	g.64759832C>T	CA381113077	PYGM	c.67G>A (p.Glu23Lys)
11	g.64759833del	CA2831038866	PYGM	c.67del (p.Glu23ArgfsTer3)
11	g.64759833_64759855del	CA2739270519	PYGM	c.45_67del (p.Ser15ArgfsTer5)	ClinVar
11	g.64759833C>A	CA475161385	PYGM	c.66G>T (p.Val22=)
11	g.64759833C>G	CA475161387	PYGM	c.66G>C (p.Val22=)
11	g.64759833C>T	CA475161386	PYGM	c.66G>A (p.Val22=)
11	g.64759834A>C	CA381113079	PYGM	c.65T>G (p.Val22Gly)
11	g.64759834A>G	CA381113081	PYGM	c.65T>C (p.Val22Ala)
11	g.64759834A>T	CA381113084	PYGM	c.65T>A (p.Val22Glu)
11	g.64759835C>A	CA381113085	PYGM	c.64G>T (p.Val22Leu)	gnomAD v3 gnomAD v4
11	g.64759835C=	CA1978930012	PYGM	c.64G= (p.Val22=)
11	g.64759835C>G	CA381113086	PYGM	c.64G>C (p.Val22Leu)	dbSNP gnomAD v3 gnomAD v4
11	g.64759835C>T	CA10606633	PYGM	c.64G>A (p.Val22Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759836G>A	CA6080379	PYGM	c.63C>T (p.Gly21=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759836G>C	CA475161389	PYGM	c.63C>G (p.Gly21=)
11	g.64759836G=	CA1978930016	PYGM	c.63C= (p.Gly21=)
11	g.64759836G>T	CA475161390	PYGM	c.63C>A (p.Gly21=)	gnomAD v4
11	g.64759837C>A	CA381113091	PYGM	c.62G>T (p.Gly21Val)
11	g.64759837C>G	CA381113093	PYGM	c.62G>C (p.Gly21Ala)	COSMIC
11	g.64759837C>T	CA381113096	PYGM	c.62G>A (p.Gly21Asp)
11	g.64759838C>A	CA381113099	PYGM	c.61G>T (p.Gly21Cys)
11	g.64759838C=	CA1978930020	PYGM	c.61G= (p.Gly21=)
11	g.64759838C>G	CA381113100	PYGM	c.61G>C (p.Gly21Arg)
11	g.64759838C>T	CA6080380	PYGM	c.61G>A (p.Gly21Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.64759839G>A	CA6080381	PYGM	c.60C>T (p.Ala20=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759839G>C	CA475161392	PYGM	c.60C>G (p.Ala20=)
11	g.64759839G=	CA1978930023	PYGM	c.60C= (p.Ala20=)
11	g.64759839G>T	CA475161393	PYGM	c.60C>A (p.Ala20=)	ClinVar COSMIC
11	g.64759840G>A	CA381113104	PYGM	c.59C>T (p.Ala20Val)
11	g.64759840G>C	CA381113108	PYGM	c.59C>G (p.Ala20Gly)	gnomAD v4
11	g.64759840G>T	CA381113111	PYGM	c.59C>A (p.Ala20Asp)
11	g.64759841C>A	CA381113114	PYGM	c.58G>T (p.Ala20Ser)
11	g.64759841C=	CA1978930025	PYGM	c.58G= (p.Ala20=)
11	g.64759841C>G	CA6080382	PYGM	c.58G>C (p.Ala20Pro)	dbSNP ExAC gnomAD v2
11	g.64759841C>T	CA381113115	PYGM	c.58G>A (p.Ala20Thr)

Number of alleles fetched