Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.64759694_64759702del	CA2792428935	PYGM	c.197_205del (p.Gly66_Ile69delinsVal)
11	g.64759700_64759701del	CA912972830	PYGM	c.200_201del (p.Arg67LeufsTer10)
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=)
11	g.64759704C>T	CA475161295	PYGM	c.195G>A (p.Val65=)
11	g.64759705A=	CA1978929747	PYGM	c.194T= (p.Val65=)
11	g.64759705A>C	CA381112187	PYGM	c.194T>G (p.Val65Gly)
11	g.64759705A>G	CA381112194	PYGM	c.194T>C (p.Val65Ala)
11	g.64759705A>T	CA381112196	PYGM	c.194T>A (p.Val65Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759705dup	CA2695198893	PYGM	c.194dup (p.Arg67AlafsTer11)	ClinVar
11	g.64759706C>A	CA6080350	PYGM	c.193G>T (p.Val65Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759706C=	CA1978929752	PYGM	c.193G= (p.Val65=)
11	g.64759706C>G	CA381112200	PYGM	c.193G>C (p.Val65Leu)	ClinVar
11	g.64759706C>T	CA6080349	PYGM	c.193G>A (p.Val65Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759706_64759709del	CA2574865048	PYGM	c.190_193del (p.Leu64TrpfsTer24) c.190_193del (p.Leu64TrpfsTer?)
11	g.64759707G>A	CA223889271	PYGM	c.192C>T (p.Leu64=)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.64759707G>C	CA475161296	PYGM	c.192C>G (p.Leu64=)
11	g.64759707G=	CA1978929758	PYGM	c.192C= (p.Leu64=)
11	g.64759707G>T	CA475161297	PYGM	c.192C>A (p.Leu64=)
11	g.64759707_64759747del	CA2792428936	PYGM	c.152_192del (p.Asp51GlyfsTer13)
11	g.64759708A>C	CA381112203	PYGM	c.191T>G (p.Leu64Arg)	COSMIC
11	g.64759708A>G	CA381112205	PYGM	c.191T>C (p.Leu64Pro)
11	g.64759708A>T	CA381112208	PYGM	c.191T>A (p.Leu64His)	gnomAD v4
11	g.64759709G>A	CA381112214	PYGM	c.190C>T (p.Leu64Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.64759709G>C	CA381112215	PYGM	c.190C>G (p.Leu64Val)
11	g.64759709G=	CA1978929761	PYGM	c.190C= (p.Leu64=)
11	g.64759709G>T	CA381112213	PYGM	c.190C>A (p.Leu64Ile)
11	g.64759710G>A	CA475161302	PYGM	c.189C>T (p.His63=)
11	g.64759710G>C	CA381112219	PYGM	c.189C>G (p.His63Gln)
11	g.64759710G=	CA1978929764	PYGM	c.189C= (p.His63=)
11	g.64759710G>T	CA381112217	PYGM	c.189C>A (p.His63Gln)	dbSNP gnomAD v4
11	g.64759711T>A	CA381112221	PYGM	c.188A>T (p.His63Leu)	dbSNP
11	g.64759711T>C	CA381112222	PYGM	c.188A>G (p.His63Arg)
11	g.64759711T>G	CA381112224	PYGM	c.188A>C (p.His63Pro)
11	g.64759711T=	CA1978929768	PYGM	c.188A= (p.His63=)
11	g.64759712G>A	CA381112227	PYGM	c.187C>T (p.His63Tyr)
11	g.64759712G>C	CA381112230	PYGM	c.187C>G (p.His63Asp)
11	g.64759712G>T	CA381112232	PYGM	c.187C>A (p.His63Asn)
11	g.64759713G>A	CA475161304	PYGM	c.186C>T (p.Asp62=)
11	g.64759713G>C	CA381112240	PYGM	c.186C>G (p.Asp62Glu)
11	g.64759713G>T	CA381112234	PYGM	c.186C>A (p.Asp62Glu)	gnomAD v4
11	g.64759714T>A	CA381112243	PYGM	c.185A>T (p.Asp62Val)
11	g.64759714T>C	CA381112250	PYGM	c.185A>G (p.Asp62Gly)	dbSNP
11	g.64759714T>G	CA381112252	PYGM	c.185A>C (p.Asp62Ala)
11	g.64759714T=	CA1978929774	PYGM	c.185A= (p.Asp62=)
11	g.64759715C>A	CA381112264	PYGM	c.184G>T (p.Asp62Tyr)	dbSNP
11	g.64759715C=	CA1978929778	PYGM	c.184G= (p.Asp62=)
11	g.64759715C>G	CA381112267	PYGM	c.184G>C (p.Asp62His)	gnomAD v4
11	g.64759715C>T	CA381112268	PYGM	c.184G>A (p.Asp62Asn)	ClinVar dbSNP gnomAD v4
11	g.64759716G>A	CA475161306	PYGM	c.183C>T (p.Arg61=)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.64759716G>C	CA475161308	PYGM	c.183C>G (p.Arg61=)
11	g.64759716G=	CA1978929780	PYGM	c.183C= (p.Arg61=)
11	g.64759716G>T	CA475161307	PYGM	c.183C>A (p.Arg61=)
11	g.64759717C>A	CA381112276	PYGM	c.182G>T (p.Arg61Leu)
11	g.64759717C=	CA1978929784	PYGM	c.182G= (p.Arg61=)
11	g.64759717C>G	CA381112280	PYGM	c.182G>C (p.Arg61Pro)
11	g.64759717C>T	CA238832	PYGM	c.182G>A (p.Arg61His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.64759718G>A	CA381112285	PYGM	c.181C>T (p.Arg61Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.64759718G>C	CA381112288	PYGM	c.181C>G (p.Arg61Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759718G=	CA1978929791	PYGM	c.181C= (p.Arg61=)
11	g.64759718G>T	CA381112296	PYGM	c.181C>A (p.Arg61Ser)
11	g.64759718dup	CA6080351	PYGM	c.181dup (p.Arg61ProfsTer17)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759719C>A	CA475161312	PYGM	c.180G>T (p.Val60=)
11	g.64759719C=	CA1978929796	PYGM	c.180G= (p.Val60=)
11	g.64759719C>G	CA475161313	PYGM	c.180G>C (p.Val60=)
11	g.64759719C>T	CA475161314	PYGM	c.180G>A (p.Val60=)	ClinVar dbSNP gnomAD v4
11	g.64759720A>C	CA381112305	PYGM	c.179T>G (p.Val60Gly)	gnomAD v4
11	g.64759720A>G	CA381112306	PYGM	c.179T>C (p.Val60Ala)
11	g.64759720A>T	CA381112309	PYGM	c.179T>A (p.Val60Glu)
11	g.64759721C>A	CA381112311	PYGM	c.178G>T (p.Val60Leu)
11	g.64759721C=	CA1978929800	PYGM	c.178G= (p.Val60=)
11	g.64759721C>G	CA381112314	PYGM	c.178G>C (p.Val60Leu)
11	g.64759721C>T	CA6080352	PYGM	c.178G>A (p.Val60Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.64759722G>A	CA6080353	PYGM	c.177C>T (p.Thr59=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.64759722G>C	CA475161316	PYGM	c.177C>G (p.Thr59=)
11	g.64759722G=	CA1978929805	PYGM	c.177C= (p.Thr59=)
11	g.64759722G>T	CA475161318	PYGM	c.177C>A (p.Thr59=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.64759723G>A	CA6080354	PYGM	c.176C>T (p.Thr59Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759723G>C	CA381112322	PYGM	c.176C>G (p.Thr59Ser)
11	g.64759723G=	CA1978929813	PYGM	c.176C= (p.Thr59=)
11	g.64759723G>T	CA381112319	PYGM	c.176C>A (p.Thr59Asn)	dbSNP gnomAD v2 gnomAD v4
11	g.64759724T>A	CA381112326	PYGM	c.175A>T (p.Thr59Ser)
11	g.64759724T>C	CA381112332	PYGM	c.175A>G (p.Thr59Ala)
11	g.64759724T>G	CA381112334	PYGM	c.175A>C (p.Thr59Pro)
11	g.64759725A=	CA1978929817	PYGM	c.174T= (p.His58=)
11	g.64759725A>C	CA381112337	PYGM	c.174T>G (p.His58Gln)
11	g.64759725A>G	CA475161321	PYGM	c.174T>C (p.His58=)	dbSNP
11	g.64759725A>T	CA381112342	PYGM	c.174T>A (p.His58Gln)
11	g.64759726T>A	CA381112346	PYGM	c.173A>T (p.His58Leu)
11	g.64759726T>C	CA381112348	PYGM	c.173A>G (p.His58Arg)	dbSNP gnomAD v2 gnomAD v4 COSMIC
11	g.64759726T>G	CA381112353	PYGM	c.173A>C (p.His58Pro)
11	g.64759726T=	CA1978929822	PYGM	c.173A= (p.His58=)
11	g.64759727G>A	CA381112355	PYGM	c.172C>T (p.His58Tyr)	gnomAD v4
11	g.64759727G>C	CA381112360	PYGM	c.172C>G (p.His58Asp)
11	g.64759727G>T	CA381112361	PYGM	c.172C>A (p.His58Asn)
11	g.64759728G>A	CA475161329	PYGM	c.171C>T (p.Ala57=)
11	g.64759728G>C	CA475161330	PYGM	c.171C>G (p.Ala57=)
11	g.64759728G>T	CA475161331	PYGM	c.171C>A (p.Ala57=)
11	g.64759729G>A	CA381112364	PYGM	c.170C>T (p.Ala57Val)
11	g.64759729G>C	CA381112363	PYGM	c.170C>G (p.Ala57Gly)
11	g.64759729G>T	CA381112362	PYGM	c.170C>A (p.Ala57Asp)
11	g.64759730C>A	CA381112367	PYGM	c.169G>T (p.Ala57Ser)	COSMIC
11	g.64759730C>G	CA381112369	PYGM	c.169G>C (p.Ala57Pro)
11	g.64759730C>T	CA381112373	PYGM	c.169G>A (p.Ala57Thr)
11	g.64759730_64759735delinsCCAGAG	CA1978929829	PYGM	c.164_169delinsCTCTGG (p.Ala55=)
11	g.64759731C>A	CA475161335	PYGM	c.168G>T (p.Leu56=)
11	g.64759731C>G	CA475161334	PYGM	c.168G>C (p.Leu56=)
11	g.64759731C>T	CA475161333	PYGM	c.168G>A (p.Leu56=)
11	g.64759733_64759737del	CA6080355	PYGM	c.164_168del (p.Ala55GlyfsTer21)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11	g.64759732A>C	CA381112391	PYGM	c.167T>G (p.Leu56Arg)
11	g.64759732A>G	CA381112393	PYGM	c.167T>C (p.Leu56Pro)
11	g.64759732A>T	CA381112394	PYGM	c.167T>A (p.Leu56Gln)
11	g.64759733G>A	CA475161339	PYGM	c.166C>T (p.Leu56=)	ClinVar dbSNP
11	g.64759733G>C	CA381112399	PYGM	c.166C>G (p.Leu56Val)
11	g.64759733G>T	CA381112401	PYGM	c.166C>A (p.Leu56Met)
11	g.64759734A>C	CA475161341	PYGM	c.165T>G (p.Ala55=)
11	g.64759734A>G	CA475161343	PYGM	c.165T>C (p.Ala55=)
11	g.64759734A>T	CA475161344	PYGM	c.165T>A (p.Ala55=)
11	g.64759735G>A	CA381112404	PYGM	c.164C>T (p.Ala55Val)	COSMIC
11	g.64759735G>C	CA381112411	PYGM	c.164C>G (p.Ala55Gly)
11	g.64759735G>T	CA381112415	PYGM	c.164C>A (p.Ala55Asp)
11	g.64759736C>A	CA381112420	PYGM	c.163G>T (p.Ala55Ser)
11	g.64759736C=	CA1978929841	PYGM	c.163G= (p.Ala55=)
11	g.64759736C>G	CA381112423	PYGM	c.163G>C (p.Ala55Pro)
11	g.64759736C>T	CA381112419	PYGM	c.163G>A (p.Ala55Thr)	dbSNP gnomAD v2 gnomAD v4
11	g.64759737A>C	CA381112430	PYGM	c.162T>G (p.Phe54Leu)
11	g.64759737A>G	CA475161348	PYGM	c.162T>C (p.Phe54=)
11	g.64759737A>T	CA381112426	PYGM	c.162T>A (p.Phe54Leu)
11	g.64759739dup	CA912972831	PYGM	c.162dup (p.Ala55CysfsTer23)
11	g.64759738A=	CA1978929844	PYGM	c.161T= (p.Phe54=)
11	g.64759738A>C	CA381112434	PYGM	c.161T>G (p.Phe54Cys)
11	g.64759738A>G	CA381112436	PYGM	c.161T>C (p.Phe54Ser)
11	g.64759738A>T	CA6080356	PYGM	c.161T>A (p.Phe54Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759738_64759741delinsAAGT	CA1978929845	PYGM	c.158_161delinsACTT (p.Tyr53=)
11	g.64759739A=	CA1978929854	PYGM	c.160T= (p.Phe54=)
11	g.64759739A>C	CA6080357	PYGM	c.160T>G (p.Phe54Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759739A>G	CA381112441	PYGM	c.160T>C (p.Phe54Leu)	gnomAD v4
11	g.64759739A>T	CA381112444	PYGM	c.160T>A (p.Phe54Ile)
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.64759740G>A	CA475161350	PYGM	c.159C>T (p.Tyr53=)	gnomAD v4
11	g.64759740G>C	CA381112448	PYGM	c.159C>G (p.Tyr53Ter)
11	g.64759740G>T	CA381112450	PYGM	c.159C>A (p.Tyr53Ter)
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.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)

Number of alleles fetched