Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.63648541A=CA1171578741PGM1c.1169A= (p.Asp390=)
c.1223A= (p.Asp408=)
c.578A= (p.Asp193=)
1g.63648541A>CCA340638232PGM1c.1169A>C (p.Asp390Ala)
c.1223A>C (p.Asp408Ala)
c.578A>C (p.Asp193Ala)
1g.63648541A>GCA340638234PGM1c.1169A>G (p.Asp390Gly)
c.1223A>G (p.Asp408Gly)
c.578A>G (p.Asp193Gly)
 dbSNP gnomAD v4
1g.63648541A>TCA340638236PGM1c.1169A>T (p.Asp390Val)
c.1223A>T (p.Asp408Val)
c.578A>T (p.Asp193Val)
1g.63648542T>ACA340638241PGM1c.1170T>A (p.Asp390Glu)
c.1224T>A (p.Asp408Glu)
c.579T>A (p.Asp193Glu)
1g.63648542T>CCA889757PGM1c.1170T>C (p.Asp390=)
c.1224T>C (p.Asp408=)
c.579T>C (p.Asp193=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648542T>GCA340638238PGM1c.1170T>G (p.Asp390Glu)
c.1224T>G (p.Asp408Glu)
c.579T>G (p.Asp193Glu)
1g.63648542T=CA1171578742PGM1c.1170T= (p.Asp390=)
c.1224T= (p.Asp408=)
c.579T= (p.Asp193=)
1g.63648543G>ACA340638245PGM1c.1171G>A (p.Gly391Arg)
c.1225G>A (p.Gly409Arg)
c.580G>A (p.Gly194Arg)
1g.63648543G>CCA340638246PGM1c.1171G>C (p.Gly391Arg)
c.1225G>C (p.Gly409Arg)
c.580G>C (p.Gly194Arg)
1g.63648543G>TCA340638243PGM1c.1171G>T (p.Gly391Ter)
c.1225G>T (p.Gly409Ter)
c.580G>T (p.Gly194Ter)
1g.63648544dupCA889758PGM1c.1172dup (p.Leu392ThrfsTer?)
c.1226dup (p.Leu410ThrfsTer?)
c.581dup (p.Leu195ThrfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648544G>ACA340638247PGM1c.1172G>A (p.Gly391Glu)
c.1226G>A (p.Gly409Glu)
c.581G>A (p.Gly194Glu)
1g.63648544G>CCA340638248PGM1c.1172G>C (p.Gly391Ala)
c.1226G>C (p.Gly409Ala)
c.581G>C (p.Gly194Ala)
 dbSNP
1g.63648544G=CA1171578743PGM1c.1172G= (p.Gly391=)
c.1226G= (p.Gly409=)
c.581G= (p.Gly194=)
1g.63648544G>TCA340638250PGM1c.1172G>T (p.Gly391Val)
c.1226G>T (p.Gly409Val)
c.581G>T (p.Gly194Val)
1g.63648545A>CCA418197596PGM1c.1173A>C (p.Gly391=)
c.1227A>C (p.Gly409=)
c.582A>C (p.Gly194=)
1g.63648545A>GCA418197597PGM1c.1173A>G (p.Gly391=)
c.1227A>G (p.Gly409=)
c.582A>G (p.Gly194=)
1g.63648545A>TCA418197598PGM1c.1173A>T (p.Gly391=)
c.1227A>T (p.Gly409=)
c.582A>T (p.Gly194=)
1g.63648546C>ACA340638252PGM1c.1174C>A (p.Leu392Met)
c.1228C>A (p.Leu410Met)
c.583C>A (p.Leu195Met)
1g.63648546C>GCA340638254PGM1c.1174C>G (p.Leu392Val)
c.1228C>G (p.Leu410Val)
c.583C>G (p.Leu195Val)
 gnomAD v4
1g.63648546C>TCA418197599PGM1c.1174C>T (p.Leu392=)
c.1228C>T (p.Leu410=)
c.583C>T (p.Leu195=)
1g.63648547T>ACA340638255PGM1c.1175T>A (p.Leu392Gln)
c.1229T>A (p.Leu410Gln)
c.584T>A (p.Leu195Gln)
 gnomAD v4
1g.63648547T>CCA340638256PGM1c.1175T>C (p.Leu392Pro)
c.1229T>C (p.Leu410Pro)
c.584T>C (p.Leu195Pro)
1g.63648547T>GCA889759PGM1c.1175T>G (p.Leu392Arg)
c.1229T>G (p.Leu410Arg)
c.584T>G (p.Leu195Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63648547T=CA1149069464PGM1c.1175T= (p.Leu392=)
c.1229T= (p.Leu410=)
c.584T= (p.Leu195=)
1g.63648548G>ACA418197601PGM1c.1176G>A (p.Leu392=)
c.1230G>A (p.Leu410=)
c.585G>A (p.Leu195=)
1g.63648548G>CCA418197602PGM1c.1176G>C (p.Leu392=)
c.1230G>C (p.Leu410=)
c.585G>C (p.Leu195=)
 dbSNP
1g.63648548G=CA1171578744PGM1c.1176G= (p.Leu392=)
c.1230G= (p.Leu410=)
c.585G= (p.Leu195=)
1g.63648548G>TCA418197603PGM1c.1176G>T (p.Leu392=)
c.1230G>T (p.Leu410=)
c.585G>T (p.Leu195=)
1g.63648549T>ACA340638257PGM1c.1177T>A (p.Trp393Arg)
c.1231T>A (p.Trp411Arg)
c.586T>A (p.Trp196Arg)
1g.63648549T>CCA340638258PGM1c.1177T>C (p.Trp393Arg)
c.1231T>C (p.Trp411Arg)
c.586T>C (p.Trp196Arg)
1g.63648549T>GCA340638259PGM1c.1177T>G (p.Trp393Gly)
c.1231T>G (p.Trp411Gly)
c.586T>G (p.Trp196Gly)
1g.63648550G>ACA340638260PGM1c.1178G>A (p.Trp393Ter)
c.1232G>A (p.Trp411Ter)
c.587G>A (p.Trp196Ter)
1g.63648550G>CCA340638262PGM1c.1178G>C (p.Trp393Ser)
c.1232G>C (p.Trp411Ser)
c.587G>C (p.Trp196Ser)
1g.63648550G>TCA340638261PGM1c.1178G>T (p.Trp393Leu)
c.1232G>T (p.Trp411Leu)
c.587G>T (p.Trp196Leu)
1g.63648551G>ACA340638263PGM1c.1179G>A (p.Trp393Ter)
c.1233G>A (p.Trp411Ter)
c.588G>A (p.Trp196Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.63648551G>CCA340638264PGM1c.1179G>C (p.Trp393Cys)
c.1233G>C (p.Trp411Cys)
c.588G>C (p.Trp196Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.63648551G=CA1171578745PGM1c.1179G= (p.Trp393=)
c.1233G= (p.Trp411=)
c.588G= (p.Trp196=)
1g.63648551G>TCA340638265PGM1c.1179G>T (p.Trp393Cys)
c.1233G>T (p.Trp411Cys)
c.588G>T (p.Trp196Cys)
 gnomAD v4 COSMIC COSMIC
1g.63648552G>ACA340638266PGM1c.1180G>A (p.Ala394Thr)
c.1234G>A (p.Ala412Thr)
c.589G>A (p.Ala197Thr)
 dbSNP gnomAD v2
1g.63648552G>CCA889760PGM1c.1180G>C (p.Ala394Pro)
c.1234G>C (p.Ala412Pro)
c.589G>C (p.Ala197Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648552G=CA1171578746PGM1c.1180G= (p.Ala394=)
c.1234G= (p.Ala412=)
c.589G= (p.Ala197=)
1g.63648552G>TCA340638267PGM1c.1180G>T (p.Ala394Ser)
c.1234G>T (p.Ala412Ser)
c.589G>T (p.Ala197Ser)
1g.63648553C>ACA340638268PGM1c.1181C>A (p.Ala394Asp)
c.1235C>A (p.Ala412Asp)
c.590C>A (p.Ala197Asp)
1g.63648553C>GCA340638269PGM1c.1181C>G (p.Ala394Gly)
c.1235C>G (p.Ala412Gly)
c.590C>G (p.Ala197Gly)
1g.63648553C>TCA340638270PGM1c.1181C>T (p.Ala394Val)
c.1235C>T (p.Ala412Val)
c.590C>T (p.Ala197Val)
1g.63648554T>ACA418197609PGM1c.1182T>A (p.Ala394=)
c.1236T>A (p.Ala412=)
c.591T>A (p.Ala197=)
 gnomAD v4
1g.63648554T>CCA418197608PGM1c.1182T>C (p.Ala394=)
c.1236T>C (p.Ala412=)
c.591T>C (p.Ala197=)
1g.63648554T>GCA418197607PGM1c.1182T>G (p.Ala394=)
c.1236T>G (p.Ala412=)
c.591T>G (p.Ala197=)
1g.63648555G>ACA340638272PGM1c.1183G>A (p.Val395Ile)
c.1237G>A (p.Val413Ile)
c.592G>A (p.Val198Ile)
1g.63648555G>CCA340638273PGM1c.1183G>C (p.Val395Leu)
c.1237G>C (p.Val413Leu)
c.592G>C (p.Val198Leu)
 gnomAD v4
1g.63648555G>TCA340638271PGM1c.1183G>T (p.Val395Phe)
c.1237G>T (p.Val413Phe)
c.592G>T (p.Val198Phe)
1g.63648556T>ACA340638274PGM1c.1184T>A (p.Val395Asp)
c.1238T>A (p.Val413Asp)
c.593T>A (p.Val198Asp)
1g.63648556T>CCA340638275PGM1c.1184T>C (p.Val395Ala)
c.1238T>C (p.Val413Ala)
c.593T>C (p.Val198Ala)
1g.63648556T>GCA340638276PGM1c.1184T>G (p.Val395Gly)
c.1238T>G (p.Val413Gly)
c.593T>G (p.Val198Gly)
1g.63648557C>ACA418197610PGM1c.1185C>A (p.Val395=)
c.1239C>A (p.Val413=)
c.594C>A (p.Val198=)
1g.63648557C>GCA418197612PGM1c.1185C>G (p.Val395=)
c.1239C>G (p.Val413=)
c.594C>G (p.Val198=)
1g.63648557C>TCA418197613PGM1c.1185C>T (p.Val395=)
c.1239C>T (p.Val413=)
c.594C>T (p.Val198=)
1g.63648558C>ACA340638277PGM1c.1186C>A (p.Leu396Ile)
c.1240C>A (p.Leu414Ile)
c.595C>A (p.Leu199Ile)
1g.63648558C=CA1171578747PGM1c.1186C= (p.Leu396=)
c.1240C= (p.Leu414=)
c.595C= (p.Leu199=)
1g.63648558C>GCA340638278PGM1c.1186C>G (p.Leu396Val)
c.1240C>G (p.Leu414Val)
c.595C>G (p.Leu199Val)
 ClinVar dbSNP gnomAD v4
1g.63648558C>TCA340638279PGM1c.1186C>T (p.Leu396Phe)
c.1240C>T (p.Leu414Phe)
c.595C>T (p.Leu199Phe)
1g.63648559T>ACA340638280PGM1c.1187T>A (p.Leu396His)
c.1241T>A (p.Leu414His)
c.596T>A (p.Leu199His)
1g.63648559T>CCA340638281PGM1c.1187T>C (p.Leu396Pro)
c.1241T>C (p.Leu414Pro)
c.596T>C (p.Leu199Pro)
1g.63648559T>GCA340638282PGM1c.1187T>G (p.Leu396Arg)
c.1241T>G (p.Leu414Arg)
c.596T>G (p.Leu199Arg)
1g.63648560T>ACA418197614PGM1c.1188T>A (p.Leu396=)
c.1242T>A (p.Leu414=)
c.597T>A (p.Leu199=)
1g.63648560T>CCA889761PGM1c.1188T>C (p.Leu396=)
c.1242T>C (p.Leu414=)
c.597T>C (p.Leu199=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648560T>GCA418197615PGM1c.1188T>G (p.Leu396=)
c.1242T>G (p.Leu414=)
c.597T>G (p.Leu199=)
1g.63648560T=CA1171578748PGM1c.1188T= (p.Leu396=)
c.1242T= (p.Leu414=)
c.597T= (p.Leu199=)
1g.63648561G>ACA340638283PGM1c.1189G>A (p.Ala397Thr)
c.1243G>A (p.Ala415Thr)
c.598G>A (p.Ala200Thr)
1g.63648561G>CCA340638284PGM1c.1189G>C (p.Ala397Pro)
c.1243G>C (p.Ala415Pro)
c.598G>C (p.Ala200Pro)
1g.63648561G=CA1171578749PGM1c.1189G= (p.Ala397=)
c.1243G= (p.Ala415=)
c.598G= (p.Ala200=)
1g.63648561G>TCA340638285PGM1c.1189G>T (p.Ala397Ser)
c.1243G>T (p.Ala415Ser)
c.598G>T (p.Ala200Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.63648562C>ACA340638287PGM1c.1190C>A (p.Ala397Asp)
c.1244C>A (p.Ala415Asp)
c.599C>A (p.Ala200Asp)
1g.63648562C=CA1171578750PGM1c.1190C= (p.Ala397=)
c.1244C= (p.Ala415=)
c.599C= (p.Ala200=)
1g.63648562C>GCA340638286PGM1c.1190C>G (p.Ala397Gly)
c.1244C>G (p.Ala415Gly)
c.599C>G (p.Ala200Gly)
1g.63648562C>TCA889762PGM1c.1190C>T (p.Ala397Val)
c.1244C>T (p.Ala415Val)
c.599C>T (p.Ala200Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.63648563C>ACA418197616PGM1c.1191C>A (p.Ala397=)
c.1245C>A (p.Ala415=)
c.600C>A (p.Ala200=)
 ClinVar
1g.63648563C>GCA418197617PGM1c.1191C>G (p.Ala397=)
c.1245C>G (p.Ala415=)
c.600C>G (p.Ala200=)
1g.63648563C>TCA418197618PGM1c.1191C>T (p.Ala397=)
c.1245C>T (p.Ala415=)
c.600C>T (p.Ala200=)
1g.63648564T>ACA340638288PGM1c.1192T>A (p.Trp398Arg)
c.1246T>A (p.Trp416Arg)
c.601T>A (p.Trp201Arg)
1g.63648564T>CCA340638289PGM1c.1192T>C (p.Trp398Arg)
c.1246T>C (p.Trp416Arg)
c.601T>C (p.Trp201Arg)
1g.63648564T>GCA340638290PGM1c.1192T>G (p.Trp398Gly)
c.1246T>G (p.Trp416Gly)
c.601T>G (p.Trp201Gly)
1g.63648565G>ACA340638291PGM1c.1193G>A (p.Trp398Ter)
c.1247G>A (p.Trp416Ter)
c.602G>A (p.Trp201Ter)
1g.63648565G>CCA340638292PGM1c.1193G>C (p.Trp398Ser)
c.1247G>C (p.Trp416Ser)
c.602G>C (p.Trp201Ser)
1g.63648565G>TCA340638293PGM1c.1193G>T (p.Trp398Leu)
c.1247G>T (p.Trp416Leu)
c.602G>T (p.Trp201Leu)
1g.63648566G>ACA340638294PGM1c.1194G>A (p.Trp398Ter)
c.1248G>A (p.Trp416Ter)
c.603G>A (p.Trp201Ter)
1g.63648566G>CCA340638295PGM1c.1194G>C (p.Trp398Cys)
c.1248G>C (p.Trp416Cys)
c.603G>C (p.Trp201Cys)
1g.63648566G>TCA340638296PGM1c.1194G>T (p.Trp398Cys)
c.1248G>T (p.Trp416Cys)
c.603G>T (p.Trp201Cys)
1g.63648567C>ACA340638297PGM1c.1195C>A (p.Leu399Ile)
c.1249C>A (p.Leu417Ile)
c.604C>A (p.Leu202Ile)
1g.63648567C=CA1143393189PGM1c.1195C= (p.Leu399=)
c.1249C= (p.Leu417=)
c.604C= (p.Leu202=)
1g.63648567C>GCA889763PGM1c.1195C>G (p.Leu399Val)
c.1249C>G (p.Leu417Val)
c.604C>G (p.Leu202Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648567C>TCA340638298PGM1c.1195C>T (p.Leu399Phe)
c.1249C>T (p.Leu417Phe)
c.604C>T (p.Leu202Phe)
1g.63648568T>ACA340638301PGM1c.1196T>A (p.Leu399His)
c.1250T>A (p.Leu417His)
c.605T>A (p.Leu202His)
1g.63648568T>CCA340638300PGM1c.1196T>C (p.Leu399Pro)
c.1250T>C (p.Leu417Pro)
c.605T>C (p.Leu202Pro)
 dbSNP gnomAD v4
1g.63648568T>GCA340638299PGM1c.1196T>G (p.Leu399Arg)
c.1250T>G (p.Leu417Arg)
c.605T>G (p.Leu202Arg)
1g.63648568T=CA1171578751PGM1c.1196T= (p.Leu399=)
c.1250T= (p.Leu417=)
c.605T= (p.Leu202=)
1g.63648569C>ACA418197619PGM1c.1197C>A (p.Leu399=)
c.1251C>A (p.Leu417=)
c.606C>A (p.Leu202=)
1g.63648569C=CA1171578752PGM1c.1197C= (p.Leu399=)
c.1251C= (p.Leu417=)
c.606C= (p.Leu202=)
1g.63648569C>GCA418197620PGM1c.1197C>G (p.Leu399=)
c.1251C>G (p.Leu417=)
c.606C>G (p.Leu202=)
 dbSNP gnomAD v3 gnomAD v4
1g.63648569C>TCA418197621PGM1c.1197C>T (p.Leu399=)
c.1251C>T (p.Leu417=)
c.606C>T (p.Leu202=)
 dbSNP gnomAD v4
1g.63648570T>ACA340638302PGM1c.1198T>A (p.Ser400Thr)
c.1252T>A (p.Ser418Thr)
c.607T>A (p.Ser203Thr)
1g.63648570T>CCA340638303PGM1c.1198T>C (p.Ser400Pro)
c.1252T>C (p.Ser418Pro)
c.607T>C (p.Ser203Pro)
1g.63648570T>GCA340638304PGM1c.1198T>G (p.Ser400Ala)
c.1252T>G (p.Ser418Ala)
c.607T>G (p.Ser203Ala)
1g.63648571C>ACA340638305PGM1c.1199C>A (p.Ser400Tyr)
c.1253C>A (p.Ser418Tyr)
c.608C>A (p.Ser203Tyr)
1g.63648571C=CA1171578753PGM1c.1199C= (p.Ser400=)
c.1253C= (p.Ser418=)
c.608C= (p.Ser203=)
1g.63648571C>GCA889764PGM1c.1199C>G (p.Ser400Cys)
c.1253C>G (p.Ser418Cys)
c.608C>G (p.Ser203Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648571C>TCA340638306PGM1c.1199C>T (p.Ser400Phe)
c.1253C>T (p.Ser418Phe)
c.608C>T (p.Ser203Phe)
1g.63648572C>ACA418197622PGM1c.1200C>A (p.Ser400=)
c.1254C>A (p.Ser418=)
c.609C>A (p.Ser203=)
1g.63648572C=CA1171578754PGM1c.1200C= (p.Ser400=)
c.1254C= (p.Ser418=)
c.609C= (p.Ser203=)
1g.63648572C>GCA418197624PGM1c.1200C>G (p.Ser400=)
c.1254C>G (p.Ser418=)
c.609C>G (p.Ser203=)
1g.63648572C>TCA418197625PGM1c.1200C>T (p.Ser400=)
c.1254C>T (p.Ser418=)
c.609C>T (p.Ser203=)
 dbSNP gnomAD v2 gnomAD v4
1g.63648573A=CA1171578755PGM1c.1201A= (p.Ile401=)
c.1255A= (p.Ile419=)
c.610A= (p.Ile204=)
1g.63648573A>CCA340638308PGM1c.1201A>C (p.Ile401Leu)
c.1255A>C (p.Ile419Leu)
c.610A>C (p.Ile204Leu)
1g.63648573A>GCA889765PGM1c.1201A>G (p.Ile401Val)
c.1255A>G (p.Ile419Val)
c.610A>G (p.Ile204Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.63648573A>TCA340638307PGM1c.1201A>T (p.Ile401Phe)
c.1255A>T (p.Ile419Phe)
c.610A>T (p.Ile204Phe)
1g.63648574T>ACA340638309PGM1c.1202T>A (p.Ile401Asn)
c.1256T>A (p.Ile419Asn)
c.611T>A (p.Ile204Asn)
1g.63648574T>CCA340638310PGM1c.1202T>C (p.Ile401Thr)
c.1256T>C (p.Ile419Thr)
c.611T>C (p.Ile204Thr)
1g.63648574T>GCA340638311PGM1c.1202T>G (p.Ile401Ser)
c.1256T>G (p.Ile419Ser)
c.611T>G (p.Ile204Ser)
1g.63648575C>ACA418197627PGM1c.1203C>A (p.Ile401=)
c.1257C>A (p.Ile419=)
c.612C>A (p.Ile204=)
1g.63648575C=CA1171578756PGM1c.1203C= (p.Ile401=)
c.1257C= (p.Ile419=)
c.612C= (p.Ile204=)
1g.63648575C>GCA340638312PGM1c.1203C>G (p.Ile401Met)
c.1257C>G (p.Ile419Met)
c.612C>G (p.Ile204Met)
 dbSNP gnomAD v2 gnomAD v4
1g.63648575C>TCA418197628PGM1c.1203C>T (p.Ile401=)
c.1257C>T (p.Ile419=)
c.612C>T (p.Ile204=)
1g.63648576C>ACA340638313PGM1c.1204C>A (p.Leu402Ile)
c.1258C>A (p.Leu420Ile)
c.613C>A (p.Leu205Ile)
1g.63648576C=CA1171578757PGM1c.1204C= (p.Leu402=)
c.1258C= (p.Leu420=)
c.613C= (p.Leu205=)
1g.63648576C>GCA889766PGM1c.1204C>G (p.Leu402Val)
c.1258C>G (p.Leu420Val)
c.613C>G (p.Leu205Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648576C>TCA418197629PGM1c.1204C>T (p.Leu402=)
c.1258C>T (p.Leu420=)
c.613C>T (p.Leu205=)
1g.63648577T>ACA340638314PGM1c.1205T>A (p.Leu402Gln)
c.1259T>A (p.Leu420Gln)
c.614T>A (p.Leu205Gln)
1g.63648577T>CCA340638316PGM1c.1205T>C (p.Leu402Pro)
c.1259T>C (p.Leu420Pro)
c.614T>C (p.Leu205Pro)
1g.63648577T>GCA340638315PGM1c.1205T>G (p.Leu402Arg)
c.1259T>G (p.Leu420Arg)
c.614T>G (p.Leu205Arg)
1g.63648577dupCA2646029403PGM1c.1205dup (p.Ala403SerfsTer27)
c.1259dup (p.Ala421SerfsTer27)
c.614dup (p.Ala206SerfsTer27)
 gnomAD v4
1g.63648578A>CCA418197630PGM1c.1206A>C (p.Leu402=)
c.1260A>C (p.Leu420=)
c.615A>C (p.Leu205=)
 ClinVar dbSNP gnomAD v4
1g.63648578A>GCA418197631PGM1c.1206A>G (p.Leu402=)
c.1260A>G (p.Leu420=)
c.615A>G (p.Leu205=)
1g.63648578A>TCA418197632PGM1c.1206A>T (p.Leu402=)
c.1260A>T (p.Leu420=)
c.615A>T (p.Leu205=)
1g.63648579G>ACA340638317PGM1c.1207G>A (p.Ala403Thr)
c.1261G>A (p.Ala421Thr)
c.616G>A (p.Ala206Thr)
1g.63648579G>CCA340638318PGM1c.1207G>C (p.Ala403Pro)
c.1261G>C (p.Ala421Pro)
c.616G>C (p.Ala206Pro)
1g.63648579G>TCA340638319PGM1c.1207G>T (p.Ala403Ser)
c.1261G>T (p.Ala421Ser)
c.616G>T (p.Ala206Ser)
1g.63648580C>ACA340638320PGM1c.1208C>A (p.Ala403Asp)
c.1262C>A (p.Ala421Asp)
c.617C>A (p.Ala206Asp)
1g.63648580C>GCA340638321PGM1c.1208C>G (p.Ala403Gly)
c.1262C>G (p.Ala421Gly)
c.617C>G (p.Ala206Gly)
1g.63648580C>TCA340638322PGM1c.1208C>T (p.Ala403Val)
c.1262C>T (p.Ala421Val)
c.617C>T (p.Ala206Val)
1g.63648580_63648589delinsCCACCCGCAACA1171578758PGM1c.1208_1217delinsCCACCCGCAA (p.Ala403=)
c.1262_1271delinsCCACCCGCAA (p.Ala421=)
c.617_626delinsCCACCCGCAA (p.Ala206=)
1g.63648581C>ACA418197634PGM1c.1209C>A (p.Ala403=)
c.1263C>A (p.Ala421=)
c.618C>A (p.Ala206=)
 ClinVar
1g.63648581C>GCA418197635PGM1c.1209C>G (p.Ala403=)
c.1263C>G (p.Ala421=)
c.618C>G (p.Ala206=)
1g.63648581C>TCA418197636PGM1c.1209C>T (p.Ala403=)
c.1263C>T (p.Ala421=)
c.618C>T (p.Ala206=)
1g.63648581_63648589delCA1002499555PGM1c.1209_1217del (p.Thr404_Lys406del)
c.1263_1271del (p.Thr422_Lys424del)
c.618_626del (p.Thr207_Lys209del)
 dbSNP gnomAD v3 gnomAD v4
1g.63648582A>CCA340638323PGM1c.1210A>C (p.Thr404Pro)
c.1264A>C (p.Thr422Pro)
c.619A>C (p.Thr207Pro)
1g.63648582A>GCA340638324PGM1c.1210A>G (p.Thr404Ala)
c.1264A>G (p.Thr422Ala)
c.619A>G (p.Thr207Ala)
1g.63648582A>TCA340638325PGM1c.1210A>T (p.Thr404Ser)
c.1264A>T (p.Thr422Ser)
c.619A>T (p.Thr207Ser)
1g.63648583C>ACA340638326PGM1c.1211C>A (p.Thr404Asn)
c.1265C>A (p.Thr422Asn)
c.620C>A (p.Thr207Asn)
1g.63648583C=CA1171578759PGM1c.1211C= (p.Thr404=)
c.1265C= (p.Thr422=)
c.620C= (p.Thr207=)
1g.63648583C>GCA340638327PGM1c.1211C>G (p.Thr404Ser)
c.1265C>G (p.Thr422Ser)
c.620C>G (p.Thr207Ser)
1g.63648583C>TCA340638328PGM1c.1211C>T (p.Thr404Ile)
c.1265C>T (p.Thr422Ile)
c.620C>T (p.Thr207Ile)
 dbSNP
1g.63648584C>ACA418197637PGM1c.1212C>A (p.Thr404=)
c.1266C>A (p.Thr422=)
c.621C>A (p.Thr207=)
1g.63648584C>GCA418197638PGM1c.1212C>G (p.Thr404=)
c.1266C>G (p.Thr422=)
c.621C>G (p.Thr207=)
1g.63648584C>TCA418197639PGM1c.1212C>T (p.Thr404=)
c.1266C>T (p.Thr422=)
c.621C>T (p.Thr207=)
1g.63648585C>ACA889768PGM1c.1213C>A (p.Arg405Ser)
c.1267C>A (p.Arg423Ser)
c.622C>A (p.Arg208Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648585C=CA1171578760PGM1c.1213C= (p.Arg405=)
c.1267C= (p.Arg423=)
c.622C= (p.Arg208=)
1g.63648585C>GCA340638329PGM1c.1213C>G (p.Arg405Gly)
c.1267C>G (p.Arg423Gly)
c.622C>G (p.Arg208Gly)
1g.63648585C>TCA889767PGM1c.1213C>T (p.Arg405Cys)
c.1267C>T (p.Arg423Cys)
c.622C>T (p.Arg208Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.63648586G>ACA889769PGM1c.1214G>A (p.Arg405His)
c.1268G>A (p.Arg423His)
c.623G>A (p.Arg208His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.63648586G>CCA340638330PGM1c.1214G>C (p.Arg405Pro)
c.1268G>C (p.Arg423Pro)
c.623G>C (p.Arg208Pro)
1g.63648586G=CA1171578761PGM1c.1214G= (p.Arg405=)
c.1268G= (p.Arg423=)
c.623G= (p.Arg208=)
1g.63648586G>TCA340638331PGM1c.1214G>T (p.Arg405Leu)
c.1268G>T (p.Arg423Leu)
c.623G>T (p.Arg208Leu)
 gnomAD v4
1g.63648587C>ACA418197640PGM1c.1215C>A (p.Arg405=)
c.1269C>A (p.Arg423=)
c.624C>A (p.Arg208=)
1g.63648587C=CA1171578762PGM1c.1215C= (p.Arg405=)
c.1269C= (p.Arg423=)
c.624C= (p.Arg208=)
1g.63648587C>GCA418197642PGM1c.1215C>G (p.Arg405=)
c.1269C>G (p.Arg423=)
c.624C>G (p.Arg208=)
 dbSNP
1g.63648587C>TCA418197641PGM1c.1215C>T (p.Arg405=)
c.1269C>T (p.Arg423=)
c.624C>T (p.Arg208=)
1g.63648588A>CCA340638332PGM1c.1216A>C (p.Lys406Gln)
c.1270A>C (p.Lys424Gln)
c.625A>C (p.Lys209Gln)
 gnomAD v4
1g.63648588A>GCA340638333PGM1c.1216A>G (p.Lys406Glu)
c.1270A>G (p.Lys424Glu)
c.625A>G (p.Lys209Glu)
1g.63648588A>TCA340638334PGM1c.1216A>T (p.Lys406Ter)
c.1270A>T (p.Lys424Ter)
c.625A>T (p.Lys209Ter)
1g.63648589A>CCA340638335PGM1c.1217A>C (p.Lys406Thr)
c.1271A>C (p.Lys424Thr)
c.626A>C (p.Lys209Thr)
1g.63648589A>GCA340638336PGM1c.1217A>G (p.Lys406Arg)
c.1271A>G (p.Lys424Arg)
c.626A>G (p.Lys209Arg)
1g.63648589A>TCA340638337PGM1c.1217A>T (p.Lys406Met)
c.1271A>T (p.Lys424Met)
c.626A>T (p.Lys209Met)
1g.63648590G>ACA889770PGM1c.1218G>A (p.Lys406=)
c.1272G>A (p.Lys424=)
c.627G>A (p.Lys209=)
 dbSNP ExAC
1g.63648590G>CCA340638338PGM1c.1218G>C (p.Lys406Asn)
c.1272G>C (p.Lys424Asn)
c.627G>C (p.Lys209Asn)
1g.63648590G=CA1171578763PGM1c.1218G= (p.Lys406=)
c.1272G= (p.Lys424=)
c.627G= (p.Lys209=)
1g.63648590G>TCA340638339PGM1c.1218G>T (p.Lys406Asn)
c.1272G>T (p.Lys424Asn)
c.627G>T (p.Lys209Asn)
1g.63648591C>ACA340638342PGM1c.1219C>A (p.Gln407Lys)
c.1273C>A (p.Gln425Lys)
c.628C>A (p.Gln210Lys)
1g.63648591C>GCA340638341PGM1c.1219C>G (p.Gln407Glu)
c.1273C>G (p.Gln425Glu)
c.628C>G (p.Gln210Glu)
 gnomAD v4
1g.63648591C>TCA340638340PGM1c.1219C>T (p.Gln407Ter)
c.1273C>T (p.Gln425Ter)
c.628C>T (p.Gln210Ter)
1g.63648592A>CCA340638343PGM1c.1220A>C (p.Gln407Pro)
c.1274A>C (p.Gln425Pro)
c.629A>C (p.Gln210Pro)
1g.63648592A>GCA340638344PGM1c.1220A>G (p.Gln407Arg)
c.1274A>G (p.Gln425Arg)
c.629A>G (p.Gln210Arg)
1g.63648592A>TCA340638345PGM1c.1220A>T (p.Gln407Leu)
c.1274A>T (p.Gln425Leu)
c.629A>T (p.Gln210Leu)
1g.63648593G>ACA418197643PGM1c.1221G>A (p.Gln407=)
c.1275G>A (p.Gln425=)
c.630G>A (p.Gln210=)
1g.63648593G>CCA340638346PGM1c.1221G>C (p.Gln407His)
c.1275G>C (p.Gln425His)
c.630G>C (p.Gln210His)
 COSMIC COSMIC
1g.63648593G>TCA340638347PGM1c.1221G>T (p.Gln407His)
c.1275G>T (p.Gln425His)
c.630G>T (p.Gln210His)
1g.63648594A=CA1171578764PGM1c.1222A= (p.Ser408=)
c.1276A= (p.Ser426=)
c.631A= (p.Ser211=)
1g.63648594A>CCA340638349PGM1c.1222A>C (p.Ser408Arg)
c.1276A>C (p.Ser426Arg)
c.631A>C (p.Ser211Arg)
1g.63648594A>GCA340638351PGM1c.1222A>G (p.Ser408Gly)
c.1276A>G (p.Ser426Gly)
c.631A>G (p.Ser211Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.63648594A>TCA340638352PGM1c.1222A>T (p.Ser408Cys)
c.1276A>T (p.Ser426Cys)
c.631A>T (p.Ser211Cys)
1g.63648595G>ACA340638353PGM1c.1223G>A (p.Ser408Asn)
c.1277G>A (p.Ser426Asn)
c.632G>A (p.Ser211Asn)
1g.63648595G>CCA340638354PGM1c.1223G>C (p.Ser408Thr)
c.1277G>C (p.Ser426Thr)
c.632G>C (p.Ser211Thr)
1g.63648595G>TCA340638355PGM1c.1223G>T (p.Ser408Ile)
c.1277G>T (p.Ser426Ile)
c.632G>T (p.Ser211Ile)
1g.63648596T>ACA340638356PGM1c.1224T>A (p.Ser408Arg)
c.1278T>A (p.Ser426Arg)
c.633T>A (p.Ser211Arg)
1g.63648596T>CCA418197644PGM1c.1224T>C (p.Ser408=)
c.1278T>C (p.Ser426=)
c.633T>C (p.Ser211=)
 dbSNP gnomAD v4
1g.63648596T>GCA340638357PGM1c.1224T>G (p.Ser408Arg)
c.1278T>G (p.Ser426Arg)
c.633T>G (p.Ser211Arg)
1g.63648596T=CA1171578765PGM1c.1224T= (p.Ser408=)
c.1278T= (p.Ser426=)
c.633T= (p.Ser211=)
1g.63648597G>ACA340638359PGM1c.1225G>A (p.Val409Met)
c.1279G>A (p.Val427Met)
c.634G>A (p.Val212Met)
1g.63648597G>CCA340638360PGM1c.1225G>C (p.Val409Leu)
c.1279G>C (p.Val427Leu)
c.634G>C (p.Val212Leu)
1g.63648597G=CA1171578766PGM1c.1225G= (p.Val409=)
c.1279G= (p.Val427=)
c.634G= (p.Val212=)
1g.63648597G>TCA340638358PGM1c.1225G>T (p.Val409Leu)
c.1279G>T (p.Val427Leu)
c.634G>T (p.Val212Leu)
 dbSNP
1g.63648598T>ACA340638361PGM1c.1226T>A (p.Val409Glu)
c.1280T>A (p.Val427Glu)
c.635T>A (p.Val212Glu)
1g.63648598T>CCA340638363PGM1c.1226T>C (p.Val409Ala)
c.1280T>C (p.Val427Ala)
c.635T>C (p.Val212Ala)
1g.63648598T>GCA340638362PGM1c.1226T>G (p.Val409Gly)
c.1280T>G (p.Val427Gly)
c.635T>G (p.Val212Gly)
1g.63648599G>ACA418197645PGM1c.1227G>A (p.Val409=)
c.1281G>A (p.Val427=)
c.636G>A (p.Val212=)
 gnomAD v4
1g.63648599G>CCA418197647PGM1c.1227G>C (p.Val409=)
c.1281G>C (p.Val427=)
c.636G>C (p.Val212=)
1g.63648599G>TCA418197646PGM1c.1227G>T (p.Val409=)
c.1281G>T (p.Val427=)
c.636G>T (p.Val212=)
1g.63648600delCA2646029411PGM1c.1228del (p.Glu410ArgfsTer?)
c.1282del (p.Glu428ArgfsTer?)
c.637del (p.Glu213ArgfsTer?)
 gnomAD v4
1g.63648600G>ACA340638364PGM1c.1228G>A (p.Glu410Lys)
c.1282G>A (p.Glu428Lys)
c.637G>A (p.Glu213Lys)
 COSMIC COSMIC
1g.63648600G>CCA340638365PGM1c.1228G>C (p.Glu410Gln)
c.1282G>C (p.Glu428Gln)
c.637G>C (p.Glu213Gln)
1g.63648600G>TCA340638366PGM1c.1228G>T (p.Glu410Ter)
c.1282G>T (p.Glu428Ter)
c.637G>T (p.Glu213Ter)
1g.63648600_63648601delinsGACA1171578767PGM1c.1228_1229delinsGA (p.Glu410=)
c.1282_1283delinsGA (p.Glu428=)
c.637_638delinsGA (p.Glu213=)
1g.63648601delCA889771PGM1c.1229del (p.Glu410GlyfsTer?)
c.1283del (p.Glu428GlyfsTer?)
c.638del (p.Glu213GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63648601A>CCA340638367PGM1c.1229A>C (p.Glu410Ala)
c.1283A>C (p.Glu428Ala)
c.638A>C (p.Glu213Ala)
1g.63648601A>GCA340638368PGM1c.1229A>G (p.Glu410Gly)
c.1283A>G (p.Glu428Gly)
c.638A>G (p.Glu213Gly)
1g.63648601A>TCA340638369PGM1c.1229A>T (p.Glu410Val)
c.1283A>T (p.Glu428Val)
c.638A>T (p.Glu213Val)
1g.63648602G>ACA418197648PGM1c.1230G>A (p.Glu410=)
c.1284G>A (p.Glu428=)
c.639G>A (p.Glu213=)
1g.63648602G>CCA340638370PGM1c.1230G>C (p.Glu410Asp)
c.1284G>C (p.Glu428Asp)
c.639G>C (p.Glu213Asp)
1g.63648602G>TCA340638371PGM1c.1230G>T (p.Glu410Asp)
c.1284G>T (p.Glu428Asp)
c.639G>T (p.Glu213Asp)
1g.63648603G>ACA340638372PGM1c.1231G>A (p.Asp411Asn)
c.1285G>A (p.Asp429Asn)
c.640G>A (p.Asp214Asn)
 gnomAD v4
1g.63648603G>CCA340638373PGM1c.1231G>C (p.Asp411His)
c.1285G>C (p.Asp429His)
c.640G>C (p.Asp214His)
 COSMIC COSMIC
1g.63648603G>TCA340638374PGM1c.1231G>T (p.Asp411Tyr)
c.1285G>T (p.Asp429Tyr)
c.640G>T (p.Asp214Tyr)
 gnomAD v4
1g.63648604A=CA1171578768PGM1c.1232A= (p.Asp411=)
c.1286A= (p.Asp429=)
c.641A= (p.Asp214=)
1g.63648604A>CCA340638375PGM1c.1232A>C (p.Asp411Ala)
c.1286A>C (p.Asp429Ala)
c.641A>C (p.Asp214Ala)
1g.63648604A>GCA889772PGM1c.1232A>G (p.Asp411Gly)
c.1286A>G (p.Asp429Gly)
c.641A>G (p.Asp214Gly)
 dbSNP ExAC gnomAD v2
1g.63648604A>TCA340638376PGM1c.1232A>T (p.Asp411Val)
c.1286A>T (p.Asp429Val)
c.641A>T (p.Asp214Val)
 dbSNP gnomAD v4
1g.63648605C>ACA340638377PGM1c.1233C>A (p.Asp411Glu)
c.1287C>A (p.Asp429Glu)
c.642C>A (p.Asp214Glu)
1g.63648605C=CA1171578769PGM1c.1233C= (p.Asp411=)
c.1287C= (p.Asp429=)
c.642C= (p.Asp214=)
1g.63648605C>GCA340638378PGM1c.1233C>G (p.Asp411Glu)
c.1287C>G (p.Asp429Glu)
c.642C>G (p.Asp214Glu)
1g.63648605C>TCA418197649PGM1c.1233C>T (p.Asp411=)
c.1287C>T (p.Asp429=)
c.642C>T (p.Asp214=)
 ClinVar dbSNP
1g.63648606A=CA1147288706PGM1c.1234A= (p.Ile412=)
c.1288A= (p.Ile430=)
c.643A= (p.Ile215=)
1g.63648606A>CCA889773PGM1c.1234A>C (p.Ile412Leu)
c.1288A>C (p.Ile430Leu)
c.643A>C (p.Ile215Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648606A>GCA340638379PGM1c.1234A>G (p.Ile412Val)
c.1288A>G (p.Ile430Val)
c.643A>G (p.Ile215Val)
 gnomAD v4
1g.63648606A>TCA340638380PGM1c.1234A>T (p.Ile412Phe)
c.1288A>T (p.Ile430Phe)
c.643A>T (p.Ile215Phe)
1g.63648607T>ACA340638381PGM1c.1235T>A (p.Ile412Asn)
c.1289T>A (p.Ile430Asn)
c.644T>A (p.Ile215Asn)
1g.63648607T>CCA340638382PGM1c.1235T>C (p.Ile412Thr)
c.1289T>C (p.Ile430Thr)
c.644T>C (p.Ile215Thr)
1g.63648607T>GCA340638383PGM1c.1235T>G (p.Ile412Ser)
c.1289T>G (p.Ile430Ser)
c.644T>G (p.Ile215Ser)
1g.63648608T>ACA418197650PGM1c.1236T>A (p.Ile412=)
c.1290T>A (p.Ile430=)
c.645T>A (p.Ile215=)
1g.63648608T>CCA418197651PGM1c.1236T>C (p.Ile412=)
c.1290T>C (p.Ile430=)
c.645T>C (p.Ile215=)
1g.63648608T>GCA340638384PGM1c.1236T>G (p.Ile412Met)
c.1290T>G (p.Ile430Met)
c.645T>G (p.Ile215Met)
1g.63648609C>ACA340638386PGM1c.1237C>A (p.Leu413Ile)
c.1291C>A (p.Leu431Ile)
c.646C>A (p.Leu216Ile)
1g.63648609C>GCA340638387PGM1c.1237C>G (p.Leu413Val)
c.1291C>G (p.Leu431Val)
c.646C>G (p.Leu216Val)
1g.63648609C>TCA340638385PGM1c.1237C>T (p.Leu413Phe)
c.1291C>T (p.Leu431Phe)
c.646C>T (p.Leu216Phe)
1g.63648610T>ACA340638388PGM1c.1238T>A (p.Leu413His)
c.1292T>A (p.Leu431His)
c.647T>A (p.Leu216His)
1g.63648610T>CCA340638389PGM1c.1238T>C (p.Leu413Pro)
c.1292T>C (p.Leu431Pro)
c.647T>C (p.Leu216Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.63648610T>GCA340638390PGM1c.1238T>G (p.Leu413Arg)
c.1292T>G (p.Leu431Arg)
c.647T>G (p.Leu216Arg)
1g.63648610T=CA1171578770PGM1c.1238T= (p.Leu413=)
c.1292T= (p.Leu431=)
c.647T= (p.Leu216=)
1g.63648611C>ACA418197652PGM1c.1239C>A (p.Leu413=)
c.1293C>A (p.Leu431=)
c.648C>A (p.Leu216=)
1g.63648611C=CA1171578771PGM1c.1239C= (p.Leu413=)
c.1293C= (p.Leu431=)
c.648C= (p.Leu216=)
1g.63648611C>GCA418197653PGM1c.1239C>G (p.Leu413=)
c.1293C>G (p.Leu431=)
c.648C>G (p.Leu216=)
1g.63648611C>TCA418197654PGM1c.1239C>T (p.Leu413=)
c.1293C>T (p.Leu431=)
c.648C>T (p.Leu216=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63648612A=CA1171578772PGM1c.1240A= (p.Lys414=)
c.1294A= (p.Lys432=)
c.649A= (p.Lys217=)
1g.63648612A>CCA340638391PGM1c.1240A>C (p.Lys414Gln)
c.1294A>C (p.Lys432Gln)
c.649A>C (p.Lys217Gln)
1g.63648612A>GCA23833417PGM1c.1240A>G (p.Lys414Glu)
c.1294A>G (p.Lys432Glu)
c.649A>G (p.Lys217Glu)
 dbSNP
1g.63648612A>TCA340638392PGM1c.1240A>T (p.Lys414Ter)
c.1294A>T (p.Lys432Ter)
c.649A>T (p.Lys217Ter)
1g.63648613A=CA1171578773PGM1c.1241A= (p.Lys414=)
c.1295A= (p.Lys432=)
c.650A= (p.Lys217=)
1g.63648613A>CCA340638393PGM1c.1241A>C (p.Lys414Thr)
c.1295A>C (p.Lys432Thr)
c.650A>C (p.Lys217Thr)
1g.63648613A>GCA889774PGM1c.1241A>G (p.Lys414Arg)
c.1295A>G (p.Lys432Arg)
c.650A>G (p.Lys217Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63648613A>TCA340638394PGM1c.1241A>T (p.Lys414Ile)
c.1295A>T (p.Lys432Ile)
c.650A>T (p.Lys217Ile)
1g.63648614A=CA1171578774PGM1c.1242A= (p.Lys414=)
c.1296A= (p.Lys432=)
c.651A= (p.Lys217=)
1g.63648614A>CCA340638395PGM1c.1242A>C (p.Lys414Asn)
c.1296A>C (p.Lys432Asn)
c.651A>C (p.Lys217Asn)
1g.63648614A>GCA889775PGM1c.1242A>G (p.Lys414=)
c.1296A>G (p.Lys432=)
c.651A>G (p.Lys217=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648614A>TCA340638396PGM1c.1242A>T (p.Lys414Asn)
c.1296A>T (p.Lys432Asn)
c.651A>T (p.Lys217Asn)
1g.63648615G>ACA889776PGM1c.1243G>A (p.Asp415Asn)
c.1297G>A (p.Asp433Asn)
c.652G>A (p.Asp218Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63648615G>CCA340638397PGM1c.1243G>C (p.Asp415His)
c.1297G>C (p.Asp433His)
c.652G>C (p.Asp218His)
1g.63648615G=CA1171578775PGM1c.1243G= (p.Asp415=)
c.1297G= (p.Asp433=)
c.652G= (p.Asp218=)
1g.63648615G>TCA889777PGM1c.1243G>T (p.Asp415Tyr)
c.1297G>T (p.Asp433Tyr)
c.652G>T (p.Asp218Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648616A>CCA340638398PGM1c.1244A>C (p.Asp415Ala)
c.1298A>C (p.Asp433Ala)
c.653A>C (p.Asp218Ala)
1g.63648616A>GCA340638399PGM1c.1244A>G (p.Asp415Gly)
c.1298A>G (p.Asp433Gly)
c.653A>G (p.Asp218Gly)
 gnomAD v4
1g.63648616A>TCA340638400PGM1c.1244A>T (p.Asp415Val)
c.1298A>T (p.Asp433Val)
c.653A>T (p.Asp218Val)
1g.63648617T>ACA340638401PGM1c.1245T>A (p.Asp415Glu)
c.1299T>A (p.Asp433Glu)
c.654T>A (p.Asp218Glu)
1g.63648617T>CCA418197655PGM1c.1245T>C (p.Asp415=)
c.1299T>C (p.Asp433=)
c.654T>C (p.Asp218=)
1g.63648617T>GCA340638402PGM1c.1245T>G (p.Asp415Glu)
c.1299T>G (p.Asp433Glu)
c.654T>G (p.Asp218Glu)
1g.63648618C>ACA340638405PGM1c.1246C>A (p.His416Asn)
c.1300C>A (p.His434Asn)
c.655C>A (p.His219Asn)
 gnomAD v4
1g.63648618C=CA1171578776PGM1c.1246C= (p.His416=)
c.1300C= (p.His434=)
c.655C= (p.His219=)
1g.63648618C>GCA340638403PGM1c.1246C>G (p.His416Asp)
c.1300C>G (p.His434Asp)
c.655C>G (p.His219Asp)
1g.63648618C>TCA340638404PGM1c.1246C>T (p.His416Tyr)
c.1300C>T (p.His434Tyr)
c.655C>T (p.His219Tyr)
 dbSNP
1g.63648619A>CCA340638406PGM1c.1247A>C (p.His416Pro)
c.1301A>C (p.His434Pro)
c.656A>C (p.His219Pro)
 gnomAD v4
1g.63648619A>GCA340638407PGM1c.1247A>G (p.His416Arg)
c.1301A>G (p.His434Arg)
c.656A>G (p.His219Arg)
1g.63648619A>TCA340638408PGM1c.1247A>T (p.His416Leu)
c.1301A>T (p.His434Leu)
c.656A>T (p.His219Leu)
1g.63648620T>ACA340638409PGM1c.1248T>A (p.His416Gln)
c.1302T>A (p.His434Gln)
c.657T>A (p.His219Gln)
1g.63648620T>CCA889778PGM1c.1248T>C (p.His416=)
c.1302T>C (p.His434=)
c.657T>C (p.His219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648620T>GCA340638410PGM1c.1248T>G (p.His416Gln)
c.1302T>G (p.His434Gln)
c.657T>G (p.His219Gln)
1g.63648620T=CA1171578777PGM1c.1248T= (p.His416=)
c.1302T= (p.His434=)
c.657T= (p.His219=)
1g.63648621T>ACA340638413PGM1c.1249T>A (p.Trp417Arg)
c.1303T>A (p.Trp435Arg)
c.658T>A (p.Trp220Arg)
1g.63648621T>CCA340638412PGM1c.1249T>C (p.Trp417Arg)
c.1303T>C (p.Trp435Arg)
c.658T>C (p.Trp220Arg)
1g.63648621T>GCA340638411PGM1c.1249T>G (p.Trp417Gly)
c.1303T>G (p.Trp435Gly)
c.658T>G (p.Trp220Gly)
1g.63648622G>ACA340638415PGM1c.1250G>A (p.Trp417Ter)
c.1304G>A (p.Trp435Ter)
c.659G>A (p.Trp220Ter)
1g.63648622G>CCA340638414PGM1c.1250G>C (p.Trp417Ser)
c.1304G>C (p.Trp435Ser)
c.659G>C (p.Trp220Ser)
1g.63648622G>TCA340638416PGM1c.1250G>T (p.Trp417Leu)
c.1304G>T (p.Trp435Leu)
c.659G>T (p.Trp220Leu)
1g.63648623G>ACA340638417PGM1c.1251G>A (p.Trp417Ter)
c.1305G>A (p.Trp435Ter)
c.660G>A (p.Trp220Ter)
 gnomAD v4
1g.63648623G>CCA340638419PGM1c.1251G>C (p.Trp417Cys)
c.1305G>C (p.Trp435Cys)
c.660G>C (p.Trp220Cys)
1g.63648623G>TCA340638418PGM1c.1251G>T (p.Trp417Cys)
c.1305G>T (p.Trp435Cys)
c.660G>T (p.Trp220Cys)
1g.63648624C>ACA340638420PGM1c.1252C>A (p.Gln418Lys)
c.1306C>A (p.Gln436Lys)
c.661C>A (p.Gln221Lys)
1g.63648624C>GCA340638422PGM1c.1252C>G (p.Gln418Glu)
c.1306C>G (p.Gln436Glu)
c.661C>G (p.Gln221Glu)
1g.63648624C>TCA340638421PGM1c.1252C>T (p.Gln418Ter)
c.1306C>T (p.Gln436Ter)
c.661C>T (p.Gln221Ter)
1g.63648625A>CCA340638423PGM1c.1253A>C (p.Gln418Pro)
c.1307A>C (p.Gln436Pro)
c.662A>C (p.Gln221Pro)
1g.63648625A>GCA340638424PGM1c.1253A>G (p.Gln418Arg)
c.1307A>G (p.Gln436Arg)
c.662A>G (p.Gln221Arg)
1g.63648625A>TCA340638425PGM1c.1253A>T (p.Gln418Leu)
c.1307A>T (p.Gln436Leu)
c.662A>T (p.Gln221Leu)
1g.63648626A>CCA340638426PGM1c.1254A>C (p.Gln418His)
c.1308A>C (p.Gln436His)
c.663A>C (p.Gln221His)
1g.63648626A>GCA418197656PGM1c.1254A>G (p.Gln418=)
c.1308A>G (p.Gln436=)
c.663A>G (p.Gln221=)
 ClinVar
1g.63648626A>TCA340638427PGM1c.1254A>T (p.Gln418His)
c.1308A>T (p.Gln436His)
c.663A>T (p.Gln221His)
1g.63648627A>CCA340638428PGM1c.1255A>C (p.Lys419Gln)
c.1309A>C (p.Lys437Gln)
c.664A>C (p.Lys222Gln)
1g.63648627A>GCA340638429PGM1c.1255A>G (p.Lys419Glu)
c.1309A>G (p.Lys437Glu)
c.664A>G (p.Lys222Glu)
1g.63648627A>TCA340638430PGM1c.1255A>T (p.Lys419Ter)
c.1309A>T (p.Lys437Ter)
c.664A>T (p.Lys222Ter)
1g.63648628A>CCA340638431PGM1c.1256A>C (p.Lys419Thr)
c.1310A>C (p.Lys437Thr)
c.665A>C (p.Lys222Thr)
 gnomAD v4
1g.63648628A>GCA340638432PGM1c.1256A>G (p.Lys419Arg)
c.1310A>G (p.Lys437Arg)
c.665A>G (p.Lys222Arg)
1g.63648628A>TCA340638433PGM1c.1256A>T (p.Lys419Met)
c.1310A>T (p.Lys437Met)
c.665A>T (p.Lys222Met)
1g.63648629G>ACA23833471PGM1c.1257G>A (p.Lys419=)
c.1311G>A (p.Lys437=)
c.666G>A (p.Lys222=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63648629G>CCA340638435PGM1c.1257G>C (p.Lys419Asn)
c.1311G>C (p.Lys437Asn)
c.666G>C (p.Lys222Asn)
1g.63648629G=CA1143796821PGM1c.1257G= (p.Lys419=)
c.1311G= (p.Lys437=)
c.666G= (p.Lys222=)
1g.63648629G>TCA340638434PGM1c.1257G>T (p.Lys419Asn)
c.1311G>T (p.Lys437Asn)
c.666G>T (p.Lys222Asn)
1g.63648630T>ACA340638436PGM1c.1258T>A (p.Tyr420Asn)
c.1312T>A (p.Tyr438Asn)
c.667T>A (p.Tyr223Asn)
1g.63648630T>CCA889779PGM1c.1258T>C (p.Tyr420His)
c.1312T>C (p.Tyr438His)
c.667T>C (p.Tyr223His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648630T>GCA340638437PGM1c.1258T>G (p.Tyr420Asp)
c.1312T>G (p.Tyr438Asp)
c.667T>G (p.Tyr223Asp)
1g.63648630T=CA1140247782PGM1c.1258T= (p.Tyr420=)
c.1312T= (p.Tyr438=)
c.667T= (p.Tyr223=)
1g.63648631A=CA1171578778PGM1c.1259A= (p.Tyr420=)
c.1313A= (p.Tyr438=)
c.668A= (p.Tyr223=)
1g.63648631A>CCA340638438PGM1c.1259A>C (p.Tyr420Ser)
c.1313A>C (p.Tyr438Ser)
c.668A>C (p.Tyr223Ser)
1g.63648631A>GCA340638439PGM1c.1259A>G (p.Tyr420Cys)
c.1313A>G (p.Tyr438Cys)
c.668A>G (p.Tyr223Cys)
 gnomAD v4
1g.63648631A>TCA340638440PGM1c.1259A>T (p.Tyr420Phe)
c.1313A>T (p.Tyr438Phe)
c.668A>T (p.Tyr223Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.63648632T>ACA340638441PGM1c.1260T>A (p.Tyr420Ter)
c.1314T>A (p.Tyr438Ter)
c.669T>A (p.Tyr223Ter)
1g.63648632T>CCA418197657PGM1c.1260T>C (p.Tyr420=)
c.1314T>C (p.Tyr438=)
c.669T>C (p.Tyr223=)
 dbSNP gnomAD v2 gnomAD v4
1g.63648632T>GCA340638442PGM1c.1260T>G (p.Tyr420Ter)
c.1314T>G (p.Tyr438Ter)
c.669T>G (p.Tyr223Ter)
1g.63648632T=CA1171578779PGM1c.1260T= (p.Tyr420=)
c.1314T= (p.Tyr438=)
c.669T= (p.Tyr223=)
1g.63648633G>ACA340638443PGM1c.1261G>A (p.Gly421Ser)
c.1315G>A (p.Gly439Ser)
c.670G>A (p.Gly224Ser)
1g.63648633G>CCA340638444PGM1c.1261G>C (p.Gly421Arg)
c.1315G>C (p.Gly439Arg)
c.670G>C (p.Gly224Arg)
1g.63648633G>TCA340638445PGM1c.1261G>T (p.Gly421Cys)
c.1315G>T (p.Gly439Cys)
c.670G>T (p.Gly224Cys)
1g.63648634G>ACA340638448PGM1c.1262G>A (p.Gly421Asp)
c.1316G>A (p.Gly439Asp)
c.671G>A (p.Gly224Asp)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.63648634G>CCA340638447PGM1c.1262G>C (p.Gly421Ala)
c.1316G>C (p.Gly439Ala)
c.671G>C (p.Gly224Ala)
1g.63648634G=CA1171578780PGM1c.1262G= (p.Gly421=)
c.1316G= (p.Gly439=)
c.671G= (p.Gly224=)
1g.63648634G>TCA340638446PGM1c.1262G>T (p.Gly421Val)
c.1316G>T (p.Gly439Val)
c.671G>T (p.Gly224Val)
1g.63648635C>ACA418197660PGM1c.1263C>A (p.Gly421=)
c.1317C>A (p.Gly439=)
c.672C>A (p.Gly224=)
1g.63648635C>GCA418197658PGM1c.1263C>G (p.Gly421=)
c.1317C>G (p.Gly439=)
c.672C>G (p.Gly224=)
1g.63648635C>TCA418197659PGM1c.1263C>T (p.Gly421=)
c.1317C>T (p.Gly439=)
c.672C>T (p.Gly224=)
1g.63648636C>ACA418197661PGM1c.1264C>A (p.Arg422=)
c.1318C>A (p.Arg440=)
c.673C>A (p.Arg225=)
1g.63648636C=CA1148716697PGM1c.1264C= (p.Arg422=)
c.1318C= (p.Arg440=)
c.673C= (p.Arg225=)
1g.63648636C>GCA340638449PGM1c.1264C>G (p.Arg422Gly)
c.1318C>G (p.Arg440Gly)
c.673C>G (p.Arg225Gly)
1g.63648636C>TCA889780PGM1c.1264C>T (p.Arg422Trp)
c.1318C>T (p.Arg440Trp)
c.673C>T (p.Arg225Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648637G>ACA889781PGM1c.1265G>A (p.Arg422Gln)
c.1319G>A (p.Arg440Gln)
c.674G>A (p.Arg225Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.63648637G>CCA340638450PGM1c.1265G>C (p.Arg422Pro)
c.1319G>C (p.Arg440Pro)
c.674G>C (p.Arg225Pro)
1g.63648637G=CA1144287796PGM1c.1265G= (p.Arg422=)
c.1319G= (p.Arg440=)
c.674G= (p.Arg225=)
1g.63648637G>TCA340638451PGM1c.1265G>T (p.Arg422Leu)
c.1319G>T (p.Arg440Leu)
c.674G>T (p.Arg225Leu)
1g.63648638G>ACA889782PGM1c.1266G>A (p.Arg422=)
c.1320G>A (p.Arg440=)
c.675G>A (p.Arg225=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63648638G>CCA23833495PGM1c.1266G>C (p.Arg422=)
c.1320G>C (p.Arg440=)
c.675G>C (p.Arg225=)
 dbSNP
1g.63648638G=CA1171578781PGM1c.1266G= (p.Arg422=)
c.1320G= (p.Arg440=)
c.675G= (p.Arg225=)
1g.63648638G>TCA418197662PGM1c.1266G>T (p.Arg422=)
c.1320G>T (p.Arg440=)
c.675G>T (p.Arg225=)
1g.63648639A>CCA340638454PGM1c.1267A>C (p.Asn423His)
c.1321A>C (p.Asn441His)
c.676A>C (p.Asn226His)
1g.63648639A>GCA340638452PGM1c.1267A>G (p.Asn423Asp)
c.1321A>G (p.Asn441Asp)
c.676A>G (p.Asn226Asp)
1g.63648639A>TCA340638453PGM1c.1267A>T (p.Asn423Tyr)
c.1321A>T (p.Asn441Tyr)
c.676A>T (p.Asn226Tyr)
1g.63648640A>CCA340638455PGM1c.1268A>C (p.Asn423Thr)
c.1322A>C (p.Asn441Thr)
c.677A>C (p.Asn226Thr)
1g.63648640A>GCA340638456PGM1c.1268A>G (p.Asn423Ser)
c.1322A>G (p.Asn441Ser)
c.677A>G (p.Asn226Ser)
1g.63648640A>TCA340638457PGM1c.1268A>T (p.Asn423Ile)
c.1322A>T (p.Asn441Ile)
c.677A>T (p.Asn226Ile)
1g.63648641T>ACA340638458PGM1c.1269T>A (p.Asn423Lys)
c.1323T>A (p.Asn441Lys)
c.678T>A (p.Asn226Lys)
1g.63648641T>CCA418197665PGM1c.1269T>C (p.Asn423=)
c.1323T>C (p.Asn441=)
c.678T>C (p.Asn226=)
1g.63648641T>GCA340638459PGM1c.1269T>G (p.Asn423Lys)
c.1323T>G (p.Asn441Lys)
c.678T>G (p.Asn226Lys)

Number of alleles fetched