Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
11	g.64759842C>A	CA475161397	PYGM	c.57G>T (p.Leu19=)
11	g.64759842C>G	CA475161398	PYGM	c.57G>C (p.Leu19=)	gnomAD v4
11	g.64759842C>T	CA475161399	PYGM	c.57G>A (p.Leu19=)
11	g.64759844_64759854del	CA2831038867	PYGM	c.47_57del (p.Val16GlyfsTer8)
11	g.64759843A=	CA1978930027	PYGM	c.56T= (p.Leu19=)
11	g.64759843A>C	CA381113119	PYGM	c.56T>G (p.Leu19Arg)
11	g.64759843A>G	CA381113117	PYGM	c.56T>C (p.Leu19Pro)	dbSNP gnomAD v2 gnomAD v4
11	g.64759843A>T	CA381113116	PYGM	c.56T>A (p.Leu19Gln)	gnomAD v4
11	g.64759844G>A	CA475161400	PYGM	c.55C>T (p.Leu19=)	ClinVar gnomAD v4
11	g.64759844G>C	CA6080383	PYGM	c.55C>G (p.Leu19Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759844G=	CA1978930029	PYGM	c.55C= (p.Leu19=)
11	g.64759844G>T	CA381113121	PYGM	c.55C>A (p.Leu19Met)
11	g.64759845dup	CA2697548612	PYGM	c.55dup (p.Leu19ProfsTer9)	ClinVar
11	g.64759845G>A	CA475161402	PYGM	c.54C>T (p.Gly18=)
11	g.64759845G>C	CA475161404	PYGM	c.54C>G (p.Gly18=)
11	g.64759845G>T	CA475161405	PYGM	c.54C>A (p.Gly18=)
11	g.64759846C>A	CA381113123	PYGM	c.53G>T (p.Gly18Val)
11	g.64759846C>G	CA381113126	PYGM	c.53G>C (p.Gly18Ala)
11	g.64759846C>T	CA381113128	PYGM	c.53G>A (p.Gly18Asp)
11	g.64759847C>A	CA381113133	PYGM	c.52G>T (p.Gly18Cys)
11	g.64759847C>G	CA381113135	PYGM	c.52G>C (p.Gly18Arg)
11	g.64759847C>T	CA381113138	PYGM	c.52G>A (p.Gly18Ser)	gnomAD v4
11	g.64759848A>C	CA475161407	PYGM	c.51T>G (p.Arg17=)
11	g.64759848A>G	CA475161409	PYGM	c.51T>C (p.Arg17=)
11	g.64759848A>T	CA475161411	PYGM	c.51T>A (p.Arg17=)
11	g.64759849C>A	CA381113142	PYGM	c.50G>T (p.Arg17Leu)
11	g.64759849C=	CA1978930031	PYGM	c.50G= (p.Arg17=)
11	g.64759849C>G	CA381113147	PYGM	c.50G>C (p.Arg17Pro)
11	g.64759849C>T	CA6080384	PYGM	c.50G>A (p.Arg17His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759850G>A	CA6080386	PYGM	c.49C>T (p.Arg17Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759850G>C	CA381113150	PYGM	c.49C>G (p.Arg17Gly)	dbSNP
11	g.64759850G=	CA1978930034	PYGM	c.49C= (p.Arg17=)
11	g.64759850G>T	CA381113154	PYGM	c.49C>A (p.Arg17Ser)
11	g.64759850_64759851delinsGC	CA1978930036	PYGM	c.48_49delinsGC (p.Val16=)
11	g.64759851del	CA6080385	PYGM	c.48del (p.Arg17ValfsTer9)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759851C>A	CA475161412	PYGM	c.48G>T (p.Val16=)
11	g.64759851C>G	CA475161413	PYGM	c.48G>C (p.Val16=)
11	g.64759851C>T	CA475161414	PYGM	c.48G>A (p.Val16=)	gnomAD v4
11	g.64759854_64759855del	CA2574865105	PYGM	c.47_48del (p.Val16AlafsTer11)
11	g.64759852A=	CA1978930040	PYGM	c.47T= (p.Val16=)
11	g.64759852A>C	CA381113159	PYGM	c.47T>G (p.Val16Gly)
11	g.64759852A>G	CA6080387	PYGM	c.47T>C (p.Val16Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759852A>T	CA381113162	PYGM	c.47T>A (p.Val16Glu)
11	g.64759853C>A	CA381113174	PYGM	c.46G>T (p.Val16Leu)
11	g.64759853C=	CA1978930042	PYGM	c.46G= (p.Val16=)
11	g.64759853C>G	CA381113177	PYGM	c.46G>C (p.Val16Leu)
11	g.64759853C>T	CA223889435	PYGM	c.46G>A (p.Val16Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.64759853delinsAA	CA2695214476	PYGM	c.46delinsTT (p.Val16PhefsTer12)
11	g.64759854A>C	CA381113184	PYGM	c.45T>G (p.Ser15Arg)
11	g.64759854A>G	CA475161415	PYGM	c.45T>C (p.Ser15=)	ClinVar dbSNP gnomAD v4
11	g.64759854A>T	CA381113187	PYGM	c.45T>A (p.Ser15Arg)
11	g.64759855C>A	CA381113191	PYGM	c.44G>T (p.Ser15Ile)
11	g.64759855C>G	CA381113194	PYGM	c.44G>C (p.Ser15Thr)
11	g.64759855C>T	CA381113200	PYGM	c.44G>A (p.Ser15Asn)	COSMIC
11	g.64759856T>A	CA381113203	PYGM	c.43A>T (p.Ser15Cys)
11	g.64759856T>C	CA223889439	PYGM	c.43A>G (p.Ser15Gly)	dbSNP gnomAD v3 gnomAD v4
11	g.64759856T>G	CA381113217	PYGM	c.43A>C (p.Ser15Arg)
11	g.64759856T=	CA1978930044	PYGM	c.43A= (p.Ser15=)
11	g.64759857G>A	CA475161416	PYGM	c.42C>T (p.Ile14=)
11	g.64759857G>C	CA381113218	PYGM	c.42C>G (p.Ile14Met)
11	g.64759857G>T	CA475161417	PYGM	c.42C>A (p.Ile14=)
11	g.64759858A=	CA1978930046	PYGM	c.41T= (p.Ile14=)
11	g.64759858A>C	CA381113221	PYGM	c.41T>G (p.Ile14Ser)
11	g.64759858A>G	CA381113230	PYGM	c.41T>C (p.Ile14Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759858A>T	CA381113225	PYGM	c.41T>A (p.Ile14Asn)
11	g.64759859T>A	CA381113233	PYGM	c.40A>T (p.Ile14Phe)
11	g.64759859T>C	CA381113238	PYGM	c.40A>G (p.Ile14Val)	dbSNP gnomAD v4
11	g.64759859T>G	CA381113239	PYGM	c.40A>C (p.Ile14Leu)
11	g.64759859T=	CA1978930048	PYGM	c.40A= (p.Ile14=)
11	g.64759860T>A	CA381113241	PYGM	c.39A>T (p.Gln13His)
11	g.64759860T>C	CA475161418	PYGM	c.39A>G (p.Gln13=)
11	g.64759860T>G	CA381113242	PYGM	c.39A>C (p.Gln13His)
11	g.64759861T>A	CA381113243	PYGM	c.38A>T (p.Gln13Leu)
11	g.64759861T>C	CA381113244	PYGM	c.38A>G (p.Gln13Arg)
11	g.64759861T>G	CA381113246	PYGM	c.38A>C (p.Gln13Pro)
11	g.64759862G>A	CA381113248	PYGM	c.37C>T (p.Gln13Ter)
11	g.64759862G>C	CA381113256	PYGM	c.37C>G (p.Gln13Glu)
11	g.64759862G>T	CA381113258	PYGM	c.37C>A (p.Gln13Lys)
11	g.64759863C>A	CA381113269	PYGM	c.36G>T (p.Lys12Asn)
11	g.64759863C>G	CA381113272	PYGM	c.36G>C (p.Lys12Asn)
11	g.64759863C>T	CA475161419	PYGM	c.36G>A (p.Lys12=)
11	g.64759864T>A	CA381113285	PYGM	c.35A>T (p.Lys12Met)
11	g.64759864T>C	CA6080388	PYGM	c.35A>G (p.Lys12Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759864T>G	CA381113283	PYGM	c.35A>C (p.Lys12Thr)
11	g.64759864T=	CA1978930050	PYGM	c.35A= (p.Lys12=)
11	g.64759865T>A	CA381113288	PYGM	c.34A>T (p.Lys12Ter)
11	g.64759865T>C	CA381113290	PYGM	c.34A>G (p.Lys12Glu)	gnomAD v4
11	g.64759865T>G	CA381113292	PYGM	c.34A>C (p.Lys12Gln)
11	g.64759867_64759869del	CA2557192712	PYGM	c.32_34del (p.Arg11del)	gnomAD v4
11	g.64759866T>A	CA381113294	PYGM	c.33A>T (p.Arg11Ser)
11	g.64759866T>C	CA475161420	PYGM	c.33A>G (p.Arg11=)
11	g.64759866T>G	CA381113300	PYGM	c.33A>C (p.Arg11Ser)
11	g.64759867C>A	CA381113305	PYGM	c.32G>T (p.Arg11Ile)	gnomAD v4
11	g.64759867C>G	CA381113318	PYGM	c.32G>C (p.Arg11Thr)
11	g.64759867C>T	CA381113328	PYGM	c.32G>A (p.Arg11Lys)
11	g.64759868T>A	CA381113332	PYGM	c.31A>T (p.Arg11Ter)
11	g.64759868T>C	CA381113333	PYGM	c.31A>G (p.Arg11Gly)
11	g.64759868T>G	CA6080389	PYGM	c.31A>C (p.Arg11=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759868T=	CA1978930052	PYGM	c.31A= (p.Arg11=)
11	g.64759871del	CA2614192041	PYGM	c.31del (p.Arg11GlufsTer15)	gnomAD v4
11	g.64759869T>A	CA381113337	PYGM	c.30A>T (p.Lys10Asn)
11	g.64759869T>C	CA6080390	PYGM	c.30A>G (p.Lys10=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759869T>G	CA381113334	PYGM	c.30A>C (p.Lys10Asn)
11	g.64759869T=	CA1978930055	PYGM	c.30A= (p.Lys10=)
11	g.64759870T>A	CA381113342	PYGM	c.29A>T (p.Lys10Ile)
11	g.64759870T>C	CA381113346	PYGM	c.29A>G (p.Lys10Arg)
11	g.64759870T>G	CA381113344	PYGM	c.29A>C (p.Lys10Thr)
11	g.64759870T=	CA1978930057	PYGM	c.29A= (p.Lys10=)
11	g.64759871T>A	CA381113350	PYGM	c.28A>T (p.Lys10Ter)
11	g.64759871T>C	CA381113355	PYGM	c.28A>G (p.Lys10Glu)
11	g.64759871T>G	CA381113347	PYGM	c.28A>C (p.Lys10Gln)
11	g.64759874_64759881dup	CA6080391	PYGM	c.21_28dup (p.Lys10ThrfsTer19)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759872C>A	CA381113360	PYGM	c.27G>T (p.Glu9Asp)
11	g.64759872C>G	CA381113356	PYGM	c.27G>C (p.Glu9Asp)
11	g.64759872C>T	CA475161421	PYGM	c.27G>A (p.Glu9=)	ClinVar dbSNP COSMIC
11	g.64759873T>A	CA381113371	PYGM	c.26A>T (p.Glu9Val)
11	g.64759873T>C	CA381113364	PYGM	c.26A>G (p.Glu9Gly)
11	g.64759873T>G	CA381113368	PYGM	c.26A>C (p.Glu9Ala)
11	g.64759874del	CA2695214477	PYGM	c.25del (p.Glu9ArgfsTer17)
11	g.64759874C>A	CA381113372	PYGM	c.25G>T (p.Glu9Ter)
11	g.64759874C>G	CA381113373	PYGM	c.25G>C (p.Glu9Gln)
11	g.64759874C>T	CA381113374	PYGM	c.25G>A (p.Glu9Lys)
11	g.64759875T>A	CA381113375	PYGM	c.24A>T (p.Gln8His)
11	g.64759875T>C	CA475161422	PYGM	c.24A>G (p.Gln8=)
11	g.64759875T>G	CA381113376	PYGM	c.24A>C (p.Gln8His)
11	g.64759876T>A	CA381113377	PYGM	c.23A>T (p.Gln8Leu)
11	g.64759876T>C	CA381113378	PYGM	c.23A>G (p.Gln8Arg)	dbSNP
11	g.64759876T>G	CA381113379	PYGM	c.23A>C (p.Gln8Pro)
11	g.64759876T=	CA1978930062	PYGM	c.23A= (p.Gln8=)
11	g.64759877G>A	CA381113380	PYGM	c.22C>T (p.Gln8Ter)
11	g.64759877G>C	CA381113381	PYGM	c.22C>G (p.Gln8Glu)
11	g.64759877G=	CA1978930065	PYGM	c.22C= (p.Gln8=)
11	g.64759877G>T	CA10631142	PYGM	c.22C>A (p.Gln8Lys)	ClinVar dbSNP
11	g.64759878G>A	CA475161423	PYGM	c.21C>T (p.Asp7=)	gnomAD v4
11	g.64759878G>C	CA381113383	PYGM	c.21C>G (p.Asp7Glu)
11	g.64759878G>T	CA381113382	PYGM	c.21C>A (p.Asp7Glu)
11	g.64759879T>A	CA381113386	PYGM	c.20A>T (p.Asp7Val)
11	g.64759879T>C	CA381113389	PYGM	c.20A>G (p.Asp7Gly)
11	g.64759879T>G	CA381113390	PYGM	c.20A>C (p.Asp7Ala)
11	g.64759880C>A	CA381113391	PYGM	c.19G>T (p.Asp7Tyr)
11	g.64759880C>G	CA381113400	PYGM	c.19G>C (p.Asp7His)
11	g.64759880C>T	CA381113403	PYGM	c.19G>A (p.Asp7Asn)
11	g.64759881T>A	CA475161424	PYGM	c.18A>T (p.Ser6=)
11	g.64759881T>C	CA475161425	PYGM	c.18A>G (p.Ser6=)	dbSNP
11	g.64759881T>G	CA475161426	PYGM	c.18A>C (p.Ser6=)
11	g.64759881T=	CA1978930068	PYGM	c.18A= (p.Ser6=)
11	g.64759882G>A	CA381113407	PYGM	c.17C>T (p.Ser6Leu)
11	g.64759882G>C	CA381113408	PYGM	c.17C>G (p.Ser6Ter)
11	g.64759882G>T	CA381113409	PYGM	c.17C>A (p.Ser6Ter)
11	g.64759886_64759897del	CA2574865108	PYGM	c.6_17del (p.Arg3_Ser6del)
11	g.64759883A=	CA1978930070	PYGM	c.16T= (p.Ser6=)
11	g.64759883A>C	CA381113410	PYGM	c.16T>G (p.Ser6Ala)
11	g.64759883A>G	CA381113411	PYGM	c.16T>C (p.Ser6Pro)
11	g.64759883A>T	CA6080392	PYGM	c.16T>A (p.Ser6Thr)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11	g.64759884C>A	CA475161427	PYGM	c.15G>T (p.Leu5=)
11	g.64759884C=	CA1978930075	PYGM	c.15G= (p.Leu5=)
11	g.64759884C>G	CA10587132	PYGM	c.15G>C (p.Leu5=)	ClinVar dbSNP gnomAD v4
11	g.64759884C>T	CA475161428	PYGM	c.15G>A (p.Leu5=)
11	g.64759884_64759885delinsCA	CA1978930073	PYGM	c.14_15delinsTG (p.Leu5=)
11	g.64759884_64759886delinsCAG	CA1978930072	PYGM	c.13_15delinsCTG (p.Leu5=)
11	g.64759885del	CA599803669	PYGM	c.14del (p.Leu5ArgfsTer21)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759885A=	CA1978930080	PYGM	c.14T= (p.Leu5=)
11	g.64759885A>C	CA381113413	PYGM	c.14T>G (p.Leu5Arg)
11	g.64759885A>G	CA381113414	PYGM	c.14T>C (p.Leu5Pro)	dbSNP gnomAD v4
11	g.64759885A>T	CA381113415	PYGM	c.14T>A (p.Leu5Gln)
11	g.64759885_64759886del	CA6080393	PYGM	c.13_14del (p.Leu5ValfsTer22)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759886G>A	CA475161429	PYGM	c.13C>T (p.Leu5=)
11	g.64759886G>C	CA381113416	PYGM	c.13C>G (p.Leu5Val)
11	g.64759886G>T	CA381113418	PYGM	c.13C>A (p.Leu5Met)
11	g.64759887G>A	CA475161430	PYGM	c.12C>T (p.Pro4=)
11	g.64759887G>C	CA475161432	PYGM	c.12C>G (p.Pro4=)
11	g.64759887G>T	CA475161431	PYGM	c.12C>A (p.Pro4=)
11	g.64759888G>A	CA6080394	PYGM	c.11C>T (p.Pro4Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759888G>C	CA381113419	PYGM	c.11C>G (p.Pro4Arg)
11	g.64759888G=	CA1978930082	PYGM	c.11C= (p.Pro4=)
11	g.64759888G>T	CA381113420	PYGM	c.11C>A (p.Pro4His)
11	g.64759889G>A	CA381113423	PYGM	c.10C>T (p.Pro4Ser)	gnomAD v4
11	g.64759889G>C	CA381113426	PYGM	c.10C>G (p.Pro4Ala)
11	g.64759889G>T	CA381113427	PYGM	c.10C>A (p.Pro4Thr)
11	g.64759890C>A	CA475161433	PYGM	c.9G>T (p.Arg3=)
11	g.64759890C>G	CA475161434	PYGM	c.9G>C (p.Arg3=)
11	g.64759890C>T	CA475161435	PYGM	c.9G>A (p.Arg3=)
11	g.64759891dup	CA2614192068	PYGM	c.9dup (p.Pro4AlafsTer24)	gnomAD v4
11	g.64759891C>A	CA381113429	PYGM	c.8G>T (p.Arg3Leu)	gnomAD v4
11	g.64759891C=	CA1978930084	PYGM	c.8G= (p.Arg3=)
11	g.64759891C>G	CA381113431	PYGM	c.8G>C (p.Arg3Pro)
11	g.64759891C>T	CA6080395	PYGM	c.8G>A (p.Arg3Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759892G>A	CA6080396	PYGM	c.7C>T (p.Arg3Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.64759892G>C	CA381113434	PYGM	c.7C>G (p.Arg3Gly)	dbSNP gnomAD v4
11	g.64759892G=	CA1978930087	PYGM	c.7C= (p.Arg3=)
11	g.64759892G>T	CA475161436	PYGM	c.7C>A (p.Arg3=)
11	g.64759893G>A	CA475161437	PYGM	c.6C>T (p.Ser2=)
11	g.64759893G>C	CA475161438	PYGM	c.6C>G (p.Ser2=)
11	g.64759893G>T	CA475161439	PYGM	c.6C>A (p.Ser2=)
11	g.64759894G>A	CA381113450	PYGM	c.5C>T (p.Ser2Phe)
11	g.64759894G>C	CA381113455	PYGM	c.5C>G (p.Ser2Cys)
11	g.64759894G>T	CA381113459	PYGM	c.5C>A (p.Ser2Tyr)
11	g.64759895A>C	CA381113463	PYGM	c.4T>G (p.Ser2Ala)
11	g.64759895A>G	CA381113465	PYGM	c.4T>C (p.Ser2Pro)
11	g.64759895A>T	CA381113468	PYGM	c.4T>A (p.Ser2Thr)
11	g.64759896C>A	CA381113473	PYGM	c.3G>T (p.Met1Ile)
11	g.64759896C>G	CA381113487	PYGM	c.3G>C (p.Met1Ile)
11	g.64759896C>T	CA381113489	PYGM	c.3G>A (p.Met1Ile)	ClinVar
11	g.64759897A=	CA1978930092	PYGM	c.2T= (p.Met1=)
11	g.64759897A>C	CA381113495	PYGM	c.2T>G (p.Met1Arg)
11	g.64759897A>G	CA381113497	PYGM	c.2T>C (p.Met1Thr)	ClinVar dbSNP gnomAD v4
11	g.64759897A>T	CA381113506	PYGM	c.2T>A (p.Met1Lys)
11	g.64759898T>A	CA381113509	PYGM	c.1A>T (p.Met1Leu)	ClinVar dbSNP
11	g.64759898T>C	CA252209	PYGM	c.1A>G (p.Met1Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759898T>G	CA270754	PYGM	c.1A>C (p.Met1Leu)	ClinVar dbSNP gnomAD v4
11	g.64759898T=	CA1978930096	PYGM	c.1A= (p.Met1=)
11	g.64759899G>A	CA2614192076	PYGM	c.-1C>T (n.-1C>T)	gnomAD v4
11	g.64759900G>A	CA223889470	PYGM	c.-2C>T (n.-2C>T)	dbSNP
11	g.64759900G>C	CA2614192077	PYGM	c.-2C>G (n.-2C>G)	gnomAD v4
11	g.64759900G=	CA1978930101	PYGM	c.-2C= (n.-2C=)
11	g.64759901C=	CA1978930102	PYGM	c.-3G= (n.-3G=)
11	g.64759901C>T	CA6080397	PYGM	c.-3G>A (n.-3G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.64759903G>A	CA2614192078	PYGM	c.-5C>T (n.-5C>T)	gnomAD v4

Number of alleles fetched