Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.63648530C>ACA418197582PGM1c.1158C>A (p.Ile386=)
c.1212C>A (p.Ile404=)
c.567C>A (p.Ile189=)
1g.63648530C>GCA340638189PGM1c.1158C>G (p.Ile386Met)
c.1212C>G (p.Ile404Met)
c.567C>G (p.Ile189Met)
1g.63648530C>TCA418197583PGM1c.1158C>T (p.Ile386=)
c.1212C>T (p.Ile404=)
c.567C>T (p.Ile189=)
1g.63648531C>ACA340638191PGM1c.1159C>A (p.Arg387Ser)
c.1213C>A (p.Arg405Ser)
c.568C>A (p.Arg190Ser)
1g.63648531C=CA1148440876PGM1c.1159C= (p.Arg387=)
c.1213C= (p.Arg405=)
c.568C= (p.Arg190=)
1g.63648531C>GCA340638194PGM1c.1159C>G (p.Arg387Gly)
c.1213C>G (p.Arg405Gly)
c.568C>G (p.Arg190Gly)
 gnomAD v4
1g.63648531C>TCA889755PGM1c.1159C>T (p.Arg387Cys)
c.1213C>T (p.Arg405Cys)
c.568C>T (p.Arg190Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648532G>ACA889756PGM1c.1160G>A (p.Arg387His)
c.1214G>A (p.Arg405His)
c.569G>A (p.Arg190His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63648532G>CCA340638196PGM1c.1160G>C (p.Arg387Pro)
c.1214G>C (p.Arg405Pro)
c.569G>C (p.Arg190Pro)
1g.63648532G=CA1145819750PGM1c.1160G= (p.Arg387=)
c.1214G= (p.Arg405=)
c.569G= (p.Arg190=)
1g.63648532G>TCA340638198PGM1c.1160G>T (p.Arg387Leu)
c.1214G>T (p.Arg405Leu)
c.569G>T (p.Arg190Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63648533T>ACA418197587PGM1c.1161T>A (p.Arg387=)
c.1215T>A (p.Arg405=)
c.570T>A (p.Arg190=)
1g.63648533T>CCA418197590PGM1c.1161T>C (p.Arg387=)
c.1215T>C (p.Arg405=)
c.570T>C (p.Arg190=)
1g.63648533T>GCA418197588PGM1c.1161T>G (p.Arg387=)
c.1215T>G (p.Arg405=)
c.570T>G (p.Arg190=)
 gnomAD v3 gnomAD v4
1g.63648534G>ACA340638200PGM1c.1162G>A (p.Glu388Lys)
c.1216G>A (p.Glu406Lys)
c.571G>A (p.Glu191Lys)
 dbSNP COSMIC COSMIC
1g.63648534G>CCA340638202PGM1c.1162G>C (p.Glu388Gln)
c.1216G>C (p.Glu406Gln)
c.571G>C (p.Glu191Gln)
1g.63648534G=CA1171578740PGM1c.1162G= (p.Glu388=)
c.1216G= (p.Glu406=)
c.571G= (p.Glu191=)
1g.63648534G>TCA340638203PGM1c.1162G>T (p.Glu388Ter)
c.1216G>T (p.Glu406Ter)
c.571G>T (p.Glu191Ter)
1g.63648536_63648537delCA2646029394PGM1c.1164_1165del (p.Lys389ArgfsTer?)
c.1218_1219del (p.Lys407ArgfsTer?)
c.573_574del (p.Lys192ArgfsTer?)
 gnomAD v4
1g.63648535A>CCA340638205PGM1c.1163A>C (p.Glu388Ala)
c.1217A>C (p.Glu406Ala)
c.572A>C (p.Glu191Ala)
1g.63648535A>GCA340638206PGM1c.1163A>G (p.Glu388Gly)
c.1217A>G (p.Glu406Gly)
c.572A>G (p.Glu191Gly)
1g.63648535A>TCA340638208PGM1c.1163A>T (p.Glu388Val)
c.1217A>T (p.Glu406Val)
c.572A>T (p.Glu191Val)
1g.63648536G>ACA418197591PGM1c.1164G>A (p.Glu388=)
c.1218G>A (p.Glu406=)
c.573G>A (p.Glu191=)
1g.63648536G>CCA340638210PGM1c.1164G>C (p.Glu388Asp)
c.1218G>C (p.Glu406Asp)
c.573G>C (p.Glu191Asp)
1g.63648536G>TCA340638211PGM1c.1164G>T (p.Glu388Asp)
c.1218G>T (p.Glu406Asp)
c.573G>T (p.Glu191Asp)
1g.63648537A>CCA340638216PGM1c.1165A>C (p.Lys389Gln)
c.1219A>C (p.Lys407Gln)
c.574A>C (p.Lys192Gln)
1g.63648537A>GCA340638214PGM1c.1165A>G (p.Lys389Glu)
c.1219A>G (p.Lys407Glu)
c.574A>G (p.Lys192Glu)
1g.63648537A>TCA340638212PGM1c.1165A>T (p.Lys389Ter)
c.1219A>T (p.Lys407Ter)
c.574A>T (p.Lys192Ter)
1g.63648538A>CCA340638218PGM1c.1166A>C (p.Lys389Thr)
c.1220A>C (p.Lys407Thr)
c.575A>C (p.Lys192Thr)
1g.63648538A>GCA340638220PGM1c.1166A>G (p.Lys389Arg)
c.1220A>G (p.Lys407Arg)
c.575A>G (p.Lys192Arg)
1g.63648538A>TCA340638222PGM1c.1166A>T (p.Lys389Ile)
c.1220A>T (p.Lys407Ile)
c.575A>T (p.Lys192Ile)
1g.63648539A>CCA340638223PGM1c.1167A>C (p.Lys389Asn)
c.1221A>C (p.Lys407Asn)
c.576A>C (p.Lys192Asn)
1g.63648539A>GCA418197592PGM1c.1167A>G (p.Lys389=)
c.1221A>G (p.Lys407=)
c.576A>G (p.Lys192=)
1g.63648539A>TCA340638225PGM1c.1167A>T (p.Lys389Asn)
c.1221A>T (p.Lys407Asn)
c.576A>T (p.Lys192Asn)
1g.63648540G>ACA340638227PGM1c.1168G>A (p.Asp390Asn)
c.1222G>A (p.Asp408Asn)
c.577G>A (p.Asp193Asn)
1g.63648540G>CCA340638229PGM1c.1168G>C (p.Asp390His)
c.1222G>C (p.Asp408His)
c.577G>C (p.Asp193His)
1g.63648540G>TCA340638230PGM1c.1168G>T (p.Asp390Tyr)
c.1222G>T (p.Asp408Tyr)
c.577G>T (p.Asp193Tyr)
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)

Number of alleles fetched