Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
1g.63648642T>ACA340638460PGM1c.1270T>A (p.Phe424Ile)
c.1324T>A (p.Phe442Ile)
c.679T>A (p.Phe227Ile)
1g.63648642T>CCA340638462PGM1c.1270T>C (p.Phe424Leu)
c.1324T>C (p.Phe442Leu)
c.679T>C (p.Phe227Leu)
1g.63648642T>GCA340638461PGM1c.1270T>G (p.Phe424Val)
c.1324T>G (p.Phe442Val)
c.679T>G (p.Phe227Val)
 dbSNP COSMIC COSMIC
1g.63648642T=CA1171578782PGM1c.1270T= (p.Phe424=)
c.1324T= (p.Phe442=)
c.679T= (p.Phe227=)
1g.63648643T>ACA340638463PGM1c.1271T>A (p.Phe424Tyr)
c.1325T>A (p.Phe442Tyr)
c.680T>A (p.Phe227Tyr)
1g.63648643T>CCA340638464PGM1c.1271T>C (p.Phe424Ser)
c.1325T>C (p.Phe442Ser)
c.680T>C (p.Phe227Ser)
1g.63648643T>GCA340638465PGM1c.1271T>G (p.Phe424Cys)
c.1325T>G (p.Phe442Cys)
c.680T>G (p.Phe227Cys)
 gnomAD v4

Number of alleles fetched