Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.50944161C>A	CA389699061	PYGL	c.243G>T (p.Lys81Asn) n.310G>T	gnomAD v4
14	g.50944161C=	CA2136438415	PYGL	c.243G= (p.Lys81=) n.310G=
14	g.50944161C>G	CA389699063	PYGL	c.243G>C (p.Lys81Asn) n.310G>C
14	g.50944161C>T	CA486653682	PYGL	c.243G>A (p.Lys81=) n.310G>A	dbSNP gnomAD v2
14	g.50944162T>A	CA389699064	PYGL	c.242A>T (p.Lys81Met) n.309A>T
14	g.50944162T>C	CA389699065	PYGL	c.242A>G (p.Lys81Arg) n.309A>G	dbSNP gnomAD v4
14	g.50944162T>G	CA389699068	PYGL	c.242A>C (p.Lys81Thr) n.309A>C	dbSNP gnomAD v2 gnomAD v4
14	g.50944162T=	CA2136438416	PYGL	c.242A= (p.Lys81=) n.309A=
14	g.50944163T>A	CA389699075	PYGL	c.241A>T (p.Lys81Ter) n.308A>T
14	g.50944163T>C	CA389699077	PYGL	c.241A>G (p.Lys81Glu) n.308A>G	gnomAD v4
14	g.50944163T>G	CA389699074	PYGL	c.241A>C (p.Lys81Gln) n.308A>C
14	g.50944164G>A	CA486653683	PYGL	c.240C>T (p.Pro80=) n.307C>T
14	g.50944164G>C	CA486653684	PYGL	c.240C>G (p.Pro80=) n.307C>G
14	g.50944164G>T	CA486653685	PYGL	c.240C>A (p.Pro80=) n.307C>A	gnomAD v4
14	g.50944167dup	CA2624829315	PYGL	c.240dup (p.Lys81GlnfsTer30) n.307dup c.240dup (p.Lys81GlnfsTer13)	gnomAD v4
14	g.50944165G>A	CA389699079	PYGL	c.239C>T (p.Pro80Leu) n.306C>T
14	g.50944165G>C	CA389699084	PYGL	c.239C>G (p.Pro80Arg) n.306C>G
14	g.50944165G>T	CA389699085	PYGL	c.239C>A (p.Pro80His) n.306C>A	gnomAD v4
14	g.50944166G>A	CA389699088	PYGL	c.238C>T (p.Pro80Ser) n.305C>T
14	g.50944166G>C	CA389699090	PYGL	c.238C>G (p.Pro80Ala) n.305C>G
14	g.50944166G>T	CA389699091	PYGL	c.238C>A (p.Pro80Thr) n.305C>A	gnomAD v4
14	g.50944167G>A	CA486653686	PYGL	c.237C>T (p.Cys79=) n.304C>T	dbSNP gnomAD v4
14	g.50944167G>C	CA389699094	PYGL	c.237C>G (p.Cys79Trp) n.304C>G
14	g.50944167G>T	CA389699095	PYGL	c.237C>A (p.Cys79Ter) n.304C>A
14	g.50944168C>A	CA389699096	PYGL	c.236G>T (p.Cys79Phe) n.303G>T
14	g.50944168C=	CA2136438417	PYGL	c.236G= (p.Cys79=) n.303G=
14	g.50944168C>G	CA389699097	PYGL	c.236G>C (p.Cys79Ser) n.303G>C
14	g.50944168C>T	CA7183887	PYGL	c.236G>A (p.Cys79Tyr) n.303G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14	g.50944169A=	CA2136438418	PYGL	c.235T= (p.Cys79=) n.302T=
14	g.50944169A>C	CA389699098	PYGL	c.235T>G (p.Cys79Gly) n.302T>G	dbSNP gnomAD v4
14	g.50944169A>G	CA389699099	PYGL	c.235T>C (p.Cys79Arg) n.302T>C	dbSNP
14	g.50944169A>T	CA389699100	PYGL	c.235T>A (p.Cys79Ser) n.302T>A	dbSNP gnomAD v2 gnomAD v4
14	g.50944170C>A	CA389699103	PYGL	c.234G>T (p.Lys78Asn) n.301G>T
14	g.50944170C>G	CA389699102	PYGL	c.234G>C (p.Lys78Asn) n.301G>C
14	g.50944170C>T	CA486653687	PYGL	c.234G>A (p.Lys78=) n.301G>A
14	g.50944171T>A	CA389699105	PYGL	c.233A>T (p.Lys78Met) n.300A>T
14	g.50944171T>C	CA389699108	PYGL	c.233A>G (p.Lys78Arg) n.300A>G
14	g.50944171T>G	CA389699106	PYGL	c.233A>C (p.Lys78Thr) n.300A>C
14	g.50944172T>A	CA389699111	PYGL	c.232A>T (p.Lys78Ter) n.299A>T
14	g.50944172T>C	CA389699114	PYGL	c.232A>G (p.Lys78Glu) n.299A>G
14	g.50944172T>G	CA389699112	PYGL	c.232A>C (p.Lys78Gln) n.299A>C
14	g.50944172_50944175delinsTGTC	CA2136438419	PYGL	c.229_232delinsGACA (p.Asp77=) n.296_299delinsGACA
14	g.50944173G>A	CA486653688	PYGL	c.231C>T (p.Asp77=) n.298C>T	dbSNP gnomAD v2
14	g.50944173G>C	CA389699116	PYGL	c.231C>G (p.Asp77Glu) n.298C>G
14	g.50944173G=	CA2136438420	PYGL	c.231C= (p.Asp77=) n.298C=
14	g.50944173G>T	CA389699118	PYGL	c.231C>A (p.Asp77Glu) n.298C>A	gnomAD v4
14	g.50944175_50944177del	CA614275203	PYGL	c.229_231del (p.Asp77del) n.296_298del	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944174T>A	CA389699119	PYGL	c.230A>T (p.Asp77Val) n.297A>T
14	g.50944174T>C	CA389699121	PYGL	c.230A>G (p.Asp77Gly) n.297A>G	dbSNP gnomAD v4
14	g.50944174T>G	CA389699123	PYGL	c.230A>C (p.Asp77Ala) n.297A>C
14	g.50944174T=	CA2136438421	PYGL	c.230A= (p.Asp77=) n.297A=
14	g.50944175C>A	CA389699125	PYGL	c.229G>T (p.Asp77Tyr) n.296G>T	dbSNP gnomAD v2 gnomAD v4
14	g.50944175C=	CA2136438422	PYGL	c.229G= (p.Asp77=) n.296G=
14	g.50944175C>G	CA389699127	PYGL	c.229G>C (p.Asp77His) n.296G>C	gnomAD v4
14	g.50944175C>T	CA389699129	PYGL	c.229G>A (p.Asp77Asn) n.296G>A	gnomAD v4
14	g.50944176G>A	CA486653689	PYGL	c.228C>T (p.Tyr76=) n.295C>T	dbSNP gnomAD v3 gnomAD v4
14	g.50944176G>C	CA389699130	PYGL	c.228C>G (p.Tyr76Ter) n.295C>G
14	g.50944176G=	CA2136438423	PYGL	c.228C= (p.Tyr76=) n.295C=
14	g.50944176G>T	CA389699131	PYGL	c.228C>A (p.Tyr76Ter) n.295C>A	dbSNP gnomAD v2 gnomAD v4
14	g.50944177T>A	CA389699132	PYGL	c.227A>T (p.Tyr76Phe) n.294A>T	dbSNP
14	g.50944177T>C	CA389699134	PYGL	c.227A>G (p.Tyr76Cys) n.294A>G	gnomAD v4
14	g.50944177T>G	CA389699136	PYGL	c.227A>C (p.Tyr76Ser) n.294A>C
14	g.50944177T=	CA2136438424	PYGL	c.227A= (p.Tyr76=) n.294A=
14	g.50944178A>C	CA389699142	PYGL	c.226T>G (p.Tyr76Asp) n.293T>G
14	g.50944178A>G	CA389699140	PYGL	c.226T>C (p.Tyr76His) n.293T>C	gnomAD v4
14	g.50944178A>T	CA389699139	PYGL	c.226T>A (p.Tyr76Asn) n.293T>A
14	g.50944179G>A	CA486653690	PYGL	c.225C>T (p.Tyr75=) n.292C>T
14	g.50944179G>C	CA389699144	PYGL	c.225C>G (p.Tyr75Ter) n.292C>G
14	g.50944179G>T	CA389699145	PYGL	c.225C>A (p.Tyr75Ter) n.292C>A
14	g.50944180T>A	CA389699148	PYGL	c.224A>T (p.Tyr75Phe) n.291A>T
14	g.50944180T>C	CA7183888	PYGL	c.224A>G (p.Tyr75Cys) n.291A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944180T>G	CA389699151	PYGL	c.224A>C (p.Tyr75Ser) n.291A>C
14	g.50944180T=	CA2136438425	PYGL	c.224A= (p.Tyr75=) n.291A=
14	g.50944181A>C	CA389699152	PYGL	c.223T>G (p.Tyr75Asp) n.290T>G
14	g.50944181A>G	CA389699154	PYGL	c.223T>C (p.Tyr75His) n.290T>C
14	g.50944181A>T	CA389699155	PYGL	c.223T>A (p.Tyr75Asn) n.290T>A
14	g.50944182G>A	CA486653691	PYGL	c.222C>T (p.His74=) n.289C>T	dbSNP gnomAD v4
14	g.50944182G>C	CA389699156	PYGL	c.222C>G (p.His74Gln) n.289C>G
14	g.50944182G=	CA2136438426	PYGL	c.222C= (p.His74=) n.289C=
14	g.50944182G>T	CA389699157	PYGL	c.222C>A (p.His74Gln) n.289C>A
14	g.50944183T>A	CA389699158	PYGL	c.221A>T (p.His74Leu) n.288A>T
14	g.50944183T>C	CA389699159	PYGL	c.221A>G (p.His74Arg) n.288A>G	dbSNP gnomAD v2 gnomAD v4
14	g.50944183T>G	CA389699162	PYGL	c.221A>C (p.His74Pro) n.288A>C
14	g.50944183T=	CA2136438427	PYGL	c.221A= (p.His74=) n.288A=
14	g.50944184G>A	CA389699166	PYGL	c.220C>T (p.His74Tyr) n.287C>T
14	g.50944184G>C	CA389699167	PYGL	c.220C>G (p.His74Asp) n.287C>G
14	g.50944184G>T	CA389699164	PYGL	c.220C>A (p.His74Asn) n.287C>A	gnomAD v4
14	g.50944185C>A	CA389699168	PYGL	c.219G>T (p.Gln73His) n.286G>T
14	g.50944185C=	CA2136438428	PYGL	c.219G= (p.Gln73=) n.286G=
14	g.50944185C>G	CA389699169	PYGL	c.219G>C (p.Gln73His) n.286G>C
14	g.50944185C>T	CA260846415	PYGL	c.219G>A (p.Gln73=) n.286G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14	g.50944186T>A	CA389699172	PYGL	c.218A>T (p.Gln73Leu) n.285A>T
14	g.50944186T>C	CA389699173	PYGL	c.218A>G (p.Gln73Arg) n.285A>G
14	g.50944186T>G	CA389699176	PYGL	c.218A>C (p.Gln73Pro) n.285A>C
14	g.50944187G>A	CA260846422	PYGL	c.217C>T (p.Gln73Ter) n.284C>T	dbSNP gnomAD v3 gnomAD v4
14	g.50944187G>C	CA389699180	PYGL	c.217C>G (p.Gln73Glu) n.284C>G
14	g.50944187G=	CA2136438429	PYGL	c.217C= (p.Gln73=) n.284C=
14	g.50944187G>T	CA389699182	PYGL	c.217C>A (p.Gln73Lys) n.284C>A
14	g.50944188C>A	CA389699184	PYGL	c.216G>T (p.Gln72His) n.283G>T	gnomAD v4
14	g.50944188C>G	CA389699186	PYGL	c.216G>C (p.Gln72His) n.283G>C
14	g.50944188C>T	CA486653692	PYGL	c.216G>A (p.Gln72=) n.283G>A
14	g.50944189T>A	CA389699191	PYGL	c.215A>T (p.Gln72Leu) n.282A>T	gnomAD v4
14	g.50944189T>C	CA389699190	PYGL	c.215A>G (p.Gln72Arg) n.282A>G
14	g.50944189T>G	CA389699189	PYGL	c.215A>C (p.Gln72Pro) n.282A>C
14	g.50944190G>A	CA389699192	PYGL	c.214C>T (p.Gln72Ter) n.281C>T
14	g.50944190G>C	CA389699193	PYGL	c.214C>G (p.Gln72Glu) n.281C>G
14	g.50944190G>T	CA389699195	PYGL	c.214C>A (p.Gln72Lys) n.281C>A
14	g.50944190dup	CA2624829370	PYGL	c.214dup (p.Gln72ProfsTer?) n.281dup c.214dup (p.Gln72ProfsTer22)	gnomAD v4
14	g.50944191C>A	CA486653693	PYGL	c.213G>T (p.Thr71=) n.280G>T
14	g.50944191C=	CA2136438430	PYGL	c.213G= (p.Thr71=) n.280G=
14	g.50944191C>G	CA486653695	PYGL	c.213G>C (p.Thr71=) n.280G>C
14	g.50944191C>T	CA486653694	PYGL	c.213G>A (p.Thr71=) n.280G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944192G>A	CA389699198	PYGL	c.212C>T (p.Thr71Met) n.279C>T	dbSNP
14	g.50944192G>C	CA389699202	PYGL	c.212C>G (p.Thr71Arg) n.279C>G
14	g.50944192G=	CA2136438431	PYGL	c.212C= (p.Thr71=) n.279C=
14	g.50944192G>T	CA389699203	PYGL	c.212C>A (p.Thr71Lys) n.279C>A	dbSNP gnomAD v4
14	g.50944193T>A	CA389699204	PYGL	c.211A>T (p.Thr71Ser) n.278A>T
14	g.50944193T>C	CA389699205	PYGL	c.211A>G (p.Thr71Ala) n.278A>G
14	g.50944193T>G	CA389699206	PYGL	c.211A>C (p.Thr71Pro) n.278A>C	ClinVar dbSNP gnomAD v4
14	g.50944193T=	CA2136438432	PYGL	c.211A= (p.Thr71=) n.278A=
14	g.50944194G>A	CA486653696	PYGL	c.210C>T (p.Arg70=) n.277C>T
14	g.50944194G>C	CA486653697	PYGL	c.210C>G (p.Arg70=) n.277C>G
14	g.50944194G>T	CA486653698	PYGL	c.210C>A (p.Arg70=) n.277C>A
14	g.50944195C>A	CA389699208	PYGL	c.209G>T (p.Arg70Leu) n.276G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944195C=	CA2136438433	PYGL	c.209G= (p.Arg70=) n.276G=
14	g.50944195C>G	CA389699209	PYGL	c.209G>C (p.Arg70Pro) n.276G>C
14	g.50944195C>T	CA389699210	PYGL	c.209G>A (p.Arg70His) n.276G>A	gnomAD v4
14	g.50944196G>A	CA389699215	PYGL	c.208C>T (p.Arg70Cys) n.275C>T	dbSNP
14	g.50944196G>C	CA389699213	PYGL	c.208C>G (p.Arg70Gly) n.275C>G
14	g.50944196G=	CA2136438434	PYGL	c.208C= (p.Arg70=) n.275C=
14	g.50944196G>T	CA389699212	PYGL	c.208C>A (p.Arg70Ser) n.275C>A	ClinVar dbSNP
14	g.50944197G>A	CA7183889	PYGL	c.207C>T (p.Ile69=) n.274C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944197G>C	CA389699217	PYGL	c.207C>G (p.Ile69Met) n.274C>G
14	g.50944197G=	CA2136438435	PYGL	c.207C= (p.Ile69=) n.274C=
14	g.50944197G>T	CA486653699	PYGL	c.207C>A (p.Ile69=) n.274C>A	gnomAD v4 COSMIC
14	g.50944198A>C	CA389699225	PYGL	c.206T>G (p.Ile69Ser) n.273T>G
14	g.50944198A>G	CA389699221	PYGL	c.206T>C (p.Ile69Thr) n.273T>C
14	g.50944198A>T	CA389699223	PYGL	c.206T>A (p.Ile69Asn) n.273T>A
14	g.50944199T>A	CA389699228	PYGL	c.205A>T (p.Ile69Phe) n.272A>T	COSMIC
14	g.50944199T>C	CA389699230	PYGL	c.205A>G (p.Ile69Val) n.272A>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944199T>G	CA389699233	PYGL	c.205A>C (p.Ile69Leu) n.272A>C
14	g.50944199T=	CA2136438436	PYGL	c.205A= (p.Ile69=) n.272A=
14	g.50944200C>A	CA389699236	PYGL	c.204G>T (p.Trp68Cys) n.271G>T
14	g.50944200C>G	CA389699238	PYGL	c.204G>C (p.Trp68Cys) n.271G>C
14	g.50944200C>T	CA389699239	PYGL	c.204G>A (p.Trp68Ter) n.271G>A
14	g.50944201C>A	CA389699242	PYGL	c.203G>T (p.Trp68Leu) n.270G>T
14	g.50944201C>G	CA389699243	PYGL	c.203G>C (p.Trp68Ser) n.270G>C	gnomAD v4
14	g.50944201C>T	CA389699245	PYGL	c.203G>A (p.Trp68Ter) n.270G>A
14	g.50944202A>C	CA389699251	PYGL	c.202T>G (p.Trp68Gly) n.269T>G
14	g.50944202A>G	CA389699249	PYGL	c.202T>C (p.Trp68Arg) n.269T>C	gnomAD v4
14	g.50944202A>T	CA389699247	PYGL	c.202T>A (p.Trp68Arg) n.269T>A
14	g.50944203G>A	CA486653700	PYGL	c.201C>T (p.Arg67=) n.268C>T
14	g.50944203G>C	CA486653701	PYGL	c.201C>G (p.Arg67=) n.268C>G
14	g.50944203G>T	CA486653702	PYGL	c.201C>A (p.Arg67=) n.268C>A	gnomAD v4
14	g.50944204C>A	CA389699253	PYGL	c.200G>T (p.Arg67Leu) n.267G>T
14	g.50944204C=	CA2136438437	PYGL	c.200G= (p.Arg67=) n.267G=
14	g.50944204C>G	CA389699255	PYGL	c.200G>C (p.Arg67Pro) n.267G>C
14	g.50944204C>T	CA7183890	PYGL	c.200G>A (p.Arg67His) n.267G>A	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.50944205G>A	CA389699258	PYGL	c.199C>T (p.Arg67Cys) n.266C>T	COSMIC
14	g.50944205G>C	CA389699260	PYGL	c.199C>G (p.Arg67Gly) n.266C>G
14	g.50944205G>T	CA389699261	PYGL	c.199C>A (p.Arg67Ser) n.266C>A	gnomAD v4
14	g.50944206C>A	CA486653703	PYGL	c.198G>T (p.Gly66=) n.265G>T
14	g.50944206C>G	CA486653704	PYGL	c.198G>C (p.Gly66=) n.265G>C
14	g.50944206C>T	CA486653705	PYGL	c.198G>A (p.Gly66=) n.265G>A
14	g.50944209del	CA2580088241	PYGL	c.198del (p.Arg67AlafsTer?) n.265del c.198del (p.Arg67AlafsTer20)	ClinVar gnomAD v4
14	g.50944206_50944225delinsCCCCACCAGGTGGTCGCGCA	CA2136438438	PYGL	c.179_198delinsTGCGCGACCACCTGGTGGGG (p.Val60=) n.246_265delinsTGCGCGACCACCTGGTGGGG
14	g.50944207C>A	CA389699263	PYGL	c.197G>T (p.Gly66Val) n.264G>T
14	g.50944207C=	CA2136438439	PYGL	c.197G= (p.Gly66=) n.264G=
14	g.50944207C>G	CA389699265	PYGL	c.197G>C (p.Gly66Ala) n.264G>C
14	g.50944207C>T	CA389699268	PYGL	c.197G>A (p.Gly66Glu) n.264G>A	dbSNP gnomAD v2 gnomAD v4
14	g.50944209_50944227del	CA614275204	PYGL	c.179_197del (p.Val60GlyfsTer?) n.246_264del c.179_197del (p.Val60GlyfsTer21)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944208C>A	CA389699270	PYGL	c.196G>T (p.Gly66Trp) n.263G>T	dbSNP gnomAD v2 gnomAD v4
14	g.50944208C=	CA2136438440	PYGL	c.196G= (p.Gly66=) n.263G=
14	g.50944208C>G	CA389699271	PYGL	c.196G>C (p.Gly66Arg) n.263G>C
14	g.50944208C>T	CA7183891	PYGL	c.196G>A (p.Gly66Arg) n.263G>A	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.50944209C>A	CA486653706	PYGL	c.195G>T (p.Val65=) n.262G>T
14	g.50944209C>G	CA486653707	PYGL	c.195G>C (p.Val65=) n.262G>C
14	g.50944209C>T	CA486653708	PYGL	c.195G>A (p.Val65=) n.262G>A
14	g.50944210A>C	CA389699276	PYGL	c.194T>G (p.Val65Gly) n.261T>G
14	g.50944210A>G	CA389699277	PYGL	c.194T>C (p.Val65Ala) n.261T>C
14	g.50944210A>T	CA389699274	PYGL	c.194T>A (p.Val65Glu) n.261T>A
14	g.50944211C>A	CA389699278	PYGL	c.193G>T (p.Val65Leu) n.260G>T
14	g.50944211C>G	CA389699279	PYGL	c.193G>C (p.Val65Leu) n.260G>C
14	g.50944211C>T	CA389699280	PYGL	c.193G>A (p.Val65Met) n.260G>A
14	g.50944212C>A	CA486653709	PYGL	c.192G>T (p.Leu64=) n.259G>T
14	g.50944212C>G	CA486653710	PYGL	c.192G>C (p.Leu64=) n.259G>C
14	g.50944212C>T	CA486653711	PYGL	c.192G>A (p.Leu64=) n.259G>A	gnomAD v4
14	g.50944213_50944239del	CA2624829433	PYGL	c.166_192del (p.Leu56_Leu64del) n.233_259del	gnomAD v4
14	g.50944213A>C	CA389699284	PYGL	c.191T>G (p.Leu64Arg) n.258T>G
14	g.50944213A>G	CA389699285	PYGL	c.191T>C (p.Leu64Pro) n.258T>C
14	g.50944213A>T	CA389699287	PYGL	c.191T>A (p.Leu64Gln) n.258T>A
14	g.50944214G>A	CA486653712	PYGL	c.190C>T (p.Leu64=) n.257C>T
14	g.50944214G>C	CA389699290	PYGL	c.190C>G (p.Leu64Val) n.257C>G
14	g.50944214G>T	CA389699289	PYGL	c.190C>A (p.Leu64Met) n.257C>A	gnomAD v4
14	g.50944215G>A	CA7183892	PYGL	c.189C>T (p.His63=) n.256C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944215G>C	CA389699293	PYGL	c.189C>G (p.His63Gln) n.256C>G
14	g.50944215G=	CA2136438441	PYGL	c.189C= (p.His63=) n.256C=
14	g.50944215G>T	CA389699295	PYGL	c.189C>A (p.His63Gln) n.256C>A	dbSNP gnomAD v4
14	g.50944216T>A	CA389699296	PYGL	c.188A>T (p.His63Leu) n.255A>T	gnomAD v4
14	g.50944216T>C	CA7183893	PYGL	c.188A>G (p.His63Arg) n.255A>G	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
14	g.50944216T>G	CA389699299	PYGL	c.188A>C (p.His63Pro) n.255A>C
14	g.50944216T=	CA2136438443	PYGL	c.188A= (p.His63=) n.255A=
14	g.50944216_50944217insCT	CA1139663487	PYGL	c.188_189insGA (p.His63GlnfsTer?) n.255_256insGA c.188_189insGA (p.His63GlnfsTer25)	ClinVar dbSNP
14	g.50944216_50944217delinsTG	CA2136438442	PYGL	c.187_188delinsCA (p.His63=) n.254_255delinsCA
14	g.50944217G>A	CA389699301	PYGL	c.187C>T (p.His63Tyr) n.254C>T
14	g.50944217G>C	CA389699305	PYGL	c.187C>G (p.His63Asp) n.254C>G
14	g.50944217G>T	CA389699303	PYGL	c.187C>A (p.His63Asn) n.254C>A
14	g.50944218del	CA963078753	PYGL	c.187del (p.His63ThrfsTer?) n.254del c.187del (p.His63ThrfsTer24)	dbSNP gnomAD v3 gnomAD v4
14	g.50944218G>A	CA486653713	PYGL	c.186C>T (p.Asp62=) n.253C>T	gnomAD v4
14	g.50944218G>C	CA389699307	PYGL	c.186C>G (p.Asp62Glu) n.253C>G
14	g.50944218G>T	CA389699308	PYGL	c.186C>A (p.Asp62Glu) n.253C>A	gnomAD v4
14	g.50944219T>A	CA389699311	PYGL	c.185A>T (p.Asp62Val) n.252A>T
14	g.50944219T>C	CA389699313	PYGL	c.185A>G (p.Asp62Gly) n.252A>G
14	g.50944219T>G	CA389699315	PYGL	c.185A>C (p.Asp62Ala) n.252A>C
14	g.50944219_50944221delinsTCG	CA2136438444	PYGL	c.183_185delinsCGA (p.Arg61=) n.250_252delinsCGA
14	g.50944220C>A	CA389699318	PYGL	c.184G>T (p.Asp62Tyr) n.251G>T	dbSNP gnomAD v4
14	g.50944220C=	CA2136438445	PYGL	c.184G= (p.Asp62=) n.251G=
14	g.50944220C>G	CA389699321	PYGL	c.184G>C (p.Asp62His) n.251G>C
14	g.50944220C>T	CA389699322	PYGL	c.184G>A (p.Asp62Asn) n.251G>A
14	g.50944223_50944224del	CA7183894	PYGL	c.183_184del (p.Asp62ProfsTer?) n.250_251del	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.50944221G>A	CA486653715	PYGL	c.183C>T (p.Arg61=) n.250C>T	gnomAD v4
14	g.50944221G>C	CA7183895	PYGL	c.183C>G (p.Arg61=) n.250C>G	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.50944221G=	CA2136438446	PYGL	c.183C= (p.Arg61=) n.250C=
14	g.50944221G>T	CA486653714	PYGL	c.183C>A (p.Arg61=) n.250C>A
14	g.50944222C>A	CA389699326	PYGL	c.182G>T (p.Arg61Leu) n.249G>T	gnomAD v4
14	g.50944222C>G	CA389699328	PYGL	c.182G>C (p.Arg61Pro) n.249G>C
14	g.50944222C>T	CA389699330	PYGL	c.182G>A (p.Arg61His) n.249G>A
14	g.50944223G>A	CA389699336	PYGL	c.181C>T (p.Arg61Cys) n.248C>T	gnomAD v4
14	g.50944223G>C	CA389699334	PYGL	c.181C>G (p.Arg61Gly) n.248C>G
14	g.50944223G=	CA2136438447	PYGL	c.181C= (p.Arg61=) n.248C=
14	g.50944223G>T	CA389699332	PYGL	c.181C>A (p.Arg61Ser) n.248C>A	dbSNP gnomAD v2 gnomAD v4
14	g.50944224C>A	CA486653716	PYGL	c.180G>T (p.Val60=) n.247G>T
14	g.50944224C>G	CA486653717	PYGL	c.180G>C (p.Val60=) n.247G>C
14	g.50944224C>T	CA486653718	PYGL	c.180G>A (p.Val60=) n.247G>A
14	g.50944225A>C	CA389699338	PYGL	c.179T>G (p.Val60Gly) n.246T>G
14	g.50944225A>G	CA389699342	PYGL	c.179T>C (p.Val60Ala) n.246T>C	gnomAD v4
14	g.50944225A>T	CA389699340	PYGL	c.179T>A (p.Val60Glu) n.246T>A
14	g.50944226C>A	CA389699344	PYGL	c.178G>T (p.Val60Leu) n.245G>T	gnomAD v4
14	g.50944226C>G	CA389699346	PYGL	c.178G>C (p.Val60Leu) n.245G>C
14	g.50944226C>T	CA389699345	PYGL	c.178G>A (p.Val60Met) n.245G>A
14	g.50944227C>A	CA486653719	PYGL	c.177G>T (p.Thr59=) n.244G>T
14	g.50944227C=	CA2136438448	PYGL	c.177G= (p.Thr59=) n.244G=
14	g.50944227C>G	CA486653720	PYGL	c.177G>C (p.Thr59=) n.244G>C
14	g.50944227C>T	CA486653721	PYGL	c.177G>A (p.Thr59=) n.244G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944228G>A	CA200429	PYGL	c.176C>T (p.Thr59Met) n.243C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14	g.50944228G>C	CA389699349	PYGL	c.176C>G (p.Thr59Arg) n.243C>G	gnomAD v4
14	g.50944228G=	CA2136438449	PYGL	c.176C= (p.Thr59=) n.243C=
14	g.50944228G>T	CA260846444	PYGL	c.176C>A (p.Thr59Lys) n.243C>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944229T>A	CA389699351	PYGL	c.175A>T (p.Thr59Ser) n.242A>T
14	g.50944229T>C	CA389699353	PYGL	c.175A>G (p.Thr59Ala) n.242A>G	gnomAD v4
14	g.50944229T>G	CA389699355	PYGL	c.175A>C (p.Thr59Pro) n.242A>C
14	g.50944230G>A	CA486653722	PYGL	c.174C>T (p.His58=) n.241C>T	dbSNP
14	g.50944230G>C	CA389699357	PYGL	c.174C>G (p.His58Gln) n.241C>G
14	g.50944230G=	CA2136438450	PYGL	c.174C= (p.His58=) n.241C=
14	g.50944230G>T	CA389699358	PYGL	c.174C>A (p.His58Gln) n.241C>A
14	g.50944231T>A	CA389699360	PYGL	c.173A>T (p.His58Leu) n.240A>T
14	g.50944231T>C	CA389699362	PYGL	c.173A>G (p.His58Arg) n.240A>G
14	g.50944231T>G	CA389699364	PYGL	c.173A>C (p.His58Pro) n.240A>C
14	g.50944232G>A	CA389699370	PYGL	c.172C>T (p.His58Tyr) n.239C>T	COSMIC
14	g.50944232G>C	CA389699366	PYGL	c.172C>G (p.His58Asp) n.239C>G
14	g.50944232G>T	CA389699368	PYGL	c.172C>A (p.His58Asn) n.239C>A
14	g.50944233C>A	CA486653723	PYGL	c.171G>T (p.Ala57=) n.238G>T
14	g.50944233C=	CA2136438451	PYGL	c.171G= (p.Ala57=) n.238G=
14	g.50944233C>G	CA486653724	PYGL	c.171G>C (p.Ala57=) n.238G>C
14	g.50944233C>T	CA7183896	PYGL	c.171G>A (p.Ala57=) n.238G>A	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.50944234G>A	CA260846452	PYGL	c.170C>T (p.Ala57Val) n.237C>T	dbSNP
14	g.50944234G>C	CA389699374	PYGL	c.170C>G (p.Ala57Gly) n.237C>G
14	g.50944234G=	CA2136438452	PYGL	c.170C= (p.Ala57=) n.237C=
14	g.50944234G>T	CA389699376	PYGL	c.170C>A (p.Ala57Glu) n.237C>A
14	g.50944235C>A	CA389699378	PYGL	c.169G>T (p.Ala57Ser) n.236G>T
14	g.50944235C>G	CA389699379	PYGL	c.169G>C (p.Ala57Pro) n.236G>C
14	g.50944235C>T	CA389699380	PYGL	c.169G>A (p.Ala57Thr) n.236G>A
14	g.50944236C>A	CA486653725	PYGL	c.168G>T (p.Leu56=) n.235G>T
14	g.50944236C>G	CA486653726	PYGL	c.168G>C (p.Leu56=) n.235G>C
14	g.50944236C>T	CA486653727	PYGL	c.168G>A (p.Leu56=) n.235G>A
14	g.50944237A=	CA2136438453	PYGL	c.167T= (p.Leu56=) n.234T=
14	g.50944237A>C	CA389699382	PYGL	c.167T>G (p.Leu56Arg) n.234T>G
14	g.50944237A>G	CA389699384	PYGL	c.167T>C (p.Leu56Pro) n.234T>C	dbSNP
14	g.50944237A>T	CA389699385	PYGL	c.167T>A (p.Leu56Gln) n.234T>A
14	g.50944238G>A	CA7183898	PYGL	c.166C>T (p.Leu56=) n.233C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944238G>C	CA389699387	PYGL	c.166C>G (p.Leu56Val) n.233C>G
14	g.50944238G=	CA2136438454	PYGL	c.166C= (p.Leu56=) n.233C=
14	g.50944238G>T	CA7183897	PYGL	c.166C>A (p.Leu56Met) n.233C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944239C>A	CA486653728	PYGL	c.165G>T (p.Ala55=) n.232G>T
14	g.50944239C=	CA2136438455	PYGL	c.165G= (p.Ala55=) n.232G=
14	g.50944239C>G	CA486653729	PYGL	c.165G>C (p.Ala55=) n.232G>C	gnomAD v4
14	g.50944239C>T	CA486653730	PYGL	c.165G>A (p.Ala55=) n.232G>A	dbSNP gnomAD v2 gnomAD v4
14	g.50944240G>A	CA389699390	PYGL	c.164C>T (p.Ala55Val) n.231C>T	gnomAD v4
14	g.50944240G>C	CA389699393	PYGL	c.164C>G (p.Ala55Gly) n.231C>G
14	g.50944240G>T	CA389699395	PYGL	c.164C>A (p.Ala55Glu) n.231C>A
14	g.50944241C>A	CA389699398	PYGL	c.163G>T (p.Ala55Ser) n.230G>T
14	g.50944241C>G	CA389699400	PYGL	c.163G>C (p.Ala55Pro) n.230G>C
14	g.50944241C>T	CA389699402	PYGL	c.163G>A (p.Ala55Thr) n.230G>A
14	g.50944242G>A	CA486653731	PYGL	c.162C>T (p.Phe54=) n.229C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944242G>C	CA260846465	PYGL	c.162C>G (p.Phe54Leu) n.229C>G	dbSNP gnomAD v4
14	g.50944242G=	CA2136438456	PYGL	c.162C= (p.Phe54=) n.229C=
14	g.50944242G>T	CA389699405	PYGL	c.162C>A (p.Phe54Leu) n.229C>A	gnomAD v4
14	g.50944243_50944245del	CA2801554674	PYGL	c.160_162del (p.Phe54del) n.227_229del
14	g.50944243A>C	CA389699407	PYGL	c.161T>G (p.Phe54Cys) n.228T>G
14	g.50944243A>G	CA389699409	PYGL	c.161T>C (p.Phe54Ser) n.228T>C
14	g.50944243A>T	CA389699411	PYGL	c.161T>A (p.Phe54Tyr) n.228T>A
14	g.50944244A>C	CA389699418	PYGL	c.160T>G (p.Phe54Val) n.227T>G
14	g.50944244A>G	CA389699416	PYGL	c.160T>C (p.Phe54Leu) n.227T>C	gnomAD v4
14	g.50944244A>T	CA389699414	PYGL	c.160T>A (p.Phe54Ile) n.227T>A
14	g.50944250_50944252del	CA2695219352	PYGL	c.158_160del (p.Tyr53del) n.225_227del
14	g.50944245G>A	CA486653732	PYGL	c.159C>T (p.Tyr53=) n.226C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944245G>C	CA389699420	PYGL	c.159C>G (p.Tyr53Ter) n.226C>G
14	g.50944245G=	CA2136438457	PYGL	c.159C= (p.Tyr53=) n.226C=
14	g.50944245G>T	CA389699422	PYGL	c.159C>A (p.Tyr53Ter) n.226C>A
14	g.50944246T>A	CA389699424	PYGL	c.158A>T (p.Tyr53Phe) n.225A>T
14	g.50944246T>C	CA389699426	PYGL	c.158A>G (p.Tyr53Cys) n.225A>G
14	g.50944246T>G	CA389699428	PYGL	c.158A>C (p.Tyr53Ser) n.225A>C
14	g.50944247A>C	CA389699429	PYGL	c.157T>G (p.Tyr53Asp) n.224T>G
14	g.50944247A>G	CA389699431	PYGL	c.157T>C (p.Tyr53His) n.224T>C	ClinVar
14	g.50944247A>T	CA389699433	PYGL	c.157T>A (p.Tyr53Asn) n.224T>A
14	g.50944248G>A	CA486653733	PYGL	c.156C>T (p.Tyr52=) n.223C>T	dbSNP gnomAD v2 gnomAD v4
14	g.50944248G>C	CA389699435	PYGL	c.156C>G (p.Tyr52Ter) n.223C>G
14	g.50944248G=	CA2136438458	PYGL	c.156C= (p.Tyr52=) n.223C=
14	g.50944248G>T	CA389699437	PYGL	c.156C>A (p.Tyr52Ter) n.223C>A
14	g.50944249T>A	CA389699439	PYGL	c.155A>T (p.Tyr52Phe) n.222A>T
14	g.50944249T>C	CA389699441	PYGL	c.155A>G (p.Tyr52Cys) n.222A>G	COSMIC
14	g.50944249T>G	CA389699442	PYGL	c.155A>C (p.Tyr52Ser) n.222A>C
14	g.50944250A>C	CA389699448	PYGL	c.154T>G (p.Tyr52Asp) n.221T>G
14	g.50944250A>G	CA389699446	PYGL	c.154T>C (p.Tyr52His) n.221T>C
14	g.50944250A>T	CA389699444	PYGL	c.154T>A (p.Tyr52Asn) n.221T>A
14	g.50944251G>A	CA200427	PYGL	c.153C>T (p.Asp51=) n.220C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944251G>C	CA389699450	PYGL	c.153C>G (p.Asp51Glu) n.220C>G	gnomAD v4
14	g.50944251G=	CA2136438459	PYGL	c.153C= (p.Asp51=) n.220C=
14	g.50944251G>T	CA389699452	PYGL	c.153C>A (p.Asp51Glu) n.220C>A	gnomAD v4
14	g.50944252T>A	CA389699456	PYGL	c.152A>T (p.Asp51Val) n.219A>T
14	g.50944252T>C	CA389699458	PYGL	c.152A>G (p.Asp51Gly) n.219A>G
14	g.50944252T>G	CA389699460	PYGL	c.152A>C (p.Asp51Ala) n.219A>C
14	g.50944253C>A	CA389699462	PYGL	c.151G>T (p.Asp51Tyr) n.218G>T
14	g.50944253C>G	CA389699464	PYGL	c.151G>C (p.Asp51His) n.218G>C
14	g.50944253C>T	CA389699466	PYGL	c.151G>A (p.Asp51Asn) n.218G>A
14	g.50944254G>A	CA486653734	PYGL	c.150C>T (p.Arg50=) n.217C>T
14	g.50944254G>C	CA486653736	PYGL	c.150C>G (p.Arg50=) n.217C>G
14	g.50944254G=	CA2136438460	PYGL	c.150C= (p.Arg50=) n.217C=
14	g.50944254G>T	CA486653735	PYGL	c.150C>A (p.Arg50=) n.217C>A	dbSNP
14	g.50944255C>A	CA389699469	PYGL	c.149G>T (p.Arg50Leu) n.216G>T	gnomAD v4
14	g.50944255C=	CA2136438461	PYGL	c.149G= (p.Arg50=) n.216G=
14	g.50944255C>G	CA389699472	PYGL	c.149G>C (p.Arg50Pro) n.216G>C
14	g.50944255C>T	CA389699471	PYGL	c.149G>A (p.Arg50His) n.216G>A	dbSNP
14	g.50944256G>A	CA389699475	PYGL	c.148C>T (p.Arg50Cys) n.215C>T
14	g.50944256G>C	CA389699478	PYGL	c.148C>G (p.Arg50Gly) n.215C>G
14	g.50944256G>T	CA389699479	PYGL	c.148C>A (p.Arg50Ser) n.215C>A
14	g.50944258dup	CA2695219353	PYGL	c.148dup (p.Arg50ProfsTer?) n.215dup
14	g.50944257G>A	CA7183899	PYGL	c.147C>T (p.Thr49=) n.214C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944257G>C	CA486653737	PYGL	c.147C>G (p.Thr49=) n.214C>G
14	g.50944257G=	CA2136438462	PYGL	c.147C= (p.Thr49=) n.214C=
14	g.50944257G>T	CA486653738	PYGL	c.147C>A (p.Thr49=) n.214C>A
14	g.50944258G>A	CA7183900	PYGL	c.146C>T (p.Thr49Ile) n.213C>T	dbSNP ExAC gnomAD v2
14	g.50944258G>C	CA7183901	PYGL	c.146C>G (p.Thr49Ser) n.213C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.50944258G=	CA2136438463	PYGL	c.146C= (p.Thr49=) n.213C=
14	g.50944258G>T	CA389699482	PYGL	c.146C>A (p.Thr49Asn) n.213C>A
14	g.50944259T>A	CA389699485	PYGL	c.145A>T (p.Thr49Ser) n.212A>T
14	g.50944259T>C	CA389699486	PYGL	c.145A>G (p.Thr49Ala) n.212A>G
14	g.50944259T>G	CA389699489	PYGL	c.145A>C (p.Thr49Pro) n.212A>C
14	g.50944260G>A	CA486653739	PYGL	c.144C>T (p.Thr48=) n.211C>T
14	g.50944260G>C	CA486653740	PYGL	c.144C>G (p.Thr48=) n.211C>G
14	g.50944260G>T	CA486653741	PYGL	c.144C>A (p.Thr48=) n.211C>A
14	g.50944261G>A	CA389699491	PYGL	c.143C>T (p.Thr48Ile) n.210C>T
14	g.50944261G>C	CA389699493	PYGL	c.143C>G (p.Thr48Ser) n.210C>G
14	g.50944261G>T	CA389699495	PYGL	c.143C>A (p.Thr48Asn) n.210C>A

Number of alleles fetched