Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.63651699C>ACA418198842PGM1c.1311C>A (p.Gly437=)
c.1365C>A (p.Gly455=)
n.345C>A
c.720C>A (p.Gly240=)
 gnomAD v4
1g.63651699C=CA1171579947PGM1c.1311C= (p.Gly437=)
c.1365C= (p.Gly455=)
n.345C=
c.720C= (p.Gly240=)
1g.63651699C>GCA418198843PGM1c.1311C>G (p.Gly437=)
c.1365C>G (p.Gly455=)
n.345C>G
c.720C>G (p.Gly240=)
1g.63651699C>TCA889809PGM1c.1311C>T (p.Gly437=)
c.1365C>T (p.Gly455=)
n.345C>T
c.720C>T (p.Gly240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.63651700G>ACA889810PGM1c.1312G>A (p.Ala438Thr)
c.1366G>A (p.Ala456Thr)
n.346G>A
c.721G>A (p.Ala241Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.63651700G>CCA340638571PGM1c.1312G>C (p.Ala438Pro)
c.1366G>C (p.Ala456Pro)
n.346G>C
c.721G>C (p.Ala241Pro)
1g.63651700G=CA1143473560PGM1c.1312G= (p.Ala438=)
c.1366G= (p.Ala456=)
n.346G=
c.721G= (p.Ala241=)
1g.63651700G>TCA340638572PGM1c.1312G>T (p.Ala438Ser)
c.1366G>T (p.Ala456Ser)
n.346G>T
c.721G>T (p.Ala241Ser)
 dbSNP
1g.63651701C>ACA340638573PGM1c.1313C>A (p.Ala438Glu)
c.1367C>A (p.Ala456Glu)
n.347C>A
c.722C>A (p.Ala241Glu)
1g.63651701C>GCA340638575PGM1c.1313C>G (p.Ala438Gly)
c.1367C>G (p.Ala456Gly)
n.347C>G
c.722C>G (p.Ala241Gly)
1g.63651701C>TCA340638574PGM1c.1313C>T (p.Ala438Val)
c.1367C>T (p.Ala456Val)
n.347C>T
c.722C>T (p.Ala241Val)
1g.63651702A>CCA418198844PGM1c.1314A>C (p.Ala438=)
c.1368A>C (p.Ala456=)
n.348A>C
c.723A>C (p.Ala241=)
1g.63651702A>GCA418198845PGM1c.1314A>G (p.Ala438=)
c.1368A>G (p.Ala456=)
n.348A>G
c.723A>G (p.Ala241=)
1g.63651702A>TCA418198846PGM1c.1314A>T (p.Ala438=)
c.1368A>T (p.Ala456=)
n.348A>T
c.723A>T (p.Ala241=)
1g.63651703A>CCA340638576PGM1c.1315A>C (p.Asn439His)
c.1369A>C (p.Asn457His)
n.349A>C
c.724A>C (p.Asn242His)
1g.63651703A>GCA340638577PGM1c.1315A>G (p.Asn439Asp)
c.1369A>G (p.Asn457Asp)
n.349A>G
c.724A>G (p.Asn242Asp)
1g.63651703A>TCA340638578PGM1c.1315A>T (p.Asn439Tyr)
c.1369A>T (p.Asn457Tyr)
n.349A>T
c.724A>T (p.Asn242Tyr)
1g.63651704A>CCA340638579PGM1c.1316A>C (p.Asn439Thr)
c.1370A>C (p.Asn457Thr)
n.350A>C
c.725A>C (p.Asn242Thr)
1g.63651704A>GCA340638580PGM1c.1316A>G (p.Asn439Ser)
c.1370A>G (p.Asn457Ser)
n.350A>G
c.725A>G (p.Asn242Ser)
1g.63651704A>TCA340638581PGM1c.1316A>T (p.Asn439Ile)
c.1370A>T (p.Asn457Ile)
n.350A>T
c.725A>T (p.Asn242Ile)
1g.63651705C>ACA340638582PGM1c.1317C>A (p.Asn439Lys)
c.1371C>A (p.Asn457Lys)
n.351C>A
c.726C>A (p.Asn242Lys)
1g.63651705C>GCA340638583PGM1c.1317C>G (p.Asn439Lys)
c.1371C>G (p.Asn457Lys)
n.351C>G
c.726C>G (p.Asn242Lys)
1g.63651705C>TCA418198847PGM1c.1317C>T (p.Asn439=)
c.1371C>T (p.Asn457=)
n.351C>T
c.726C>T (p.Asn242=)
 gnomAD v4
1g.63651706A>CCA340638584PGM1c.1318A>C (p.Lys440Gln)
c.1372A>C (p.Lys458Gln)
n.352A>C
c.727A>C (p.Lys243Gln)
1g.63651706A>GCA340638585PGM1c.1318A>G (p.Lys440Glu)
c.1372A>G (p.Lys458Glu)
n.352A>G
c.727A>G (p.Lys243Glu)
1g.63651706A>TCA340638586PGM1c.1318A>T (p.Lys440Ter)
c.1372A>T (p.Lys458Ter)
n.352A>T
c.727A>T (p.Lys243Ter)
1g.63651707A>CCA340638587PGM1c.1319A>C (p.Lys440Thr)
c.1373A>C (p.Lys458Thr)
n.353A>C
c.728A>C (p.Lys243Thr)
1g.63651707A>GCA340638589PGM1c.1319A>G (p.Lys440Arg)
c.1373A>G (p.Lys458Arg)
n.353A>G
c.728A>G (p.Lys243Arg)
1g.63651707A>TCA340638588PGM1c.1319A>T (p.Lys440Ile)
c.1373A>T (p.Lys458Ile)
n.353A>T
c.728A>T (p.Lys243Ile)
1g.63651708A=CA1171579949PGM1c.1320A= (p.Lys440=)
c.1374A= (p.Lys458=)
n.354A=
c.729A= (p.Lys243=)
1g.63651708A>CCA340638590PGM1c.1320A>C (p.Lys440Asn)
c.1374A>C (p.Lys458Asn)
n.354A>C
c.729A>C (p.Lys243Asn)
 dbSNP gnomAD v2
1g.63651708A>GCA889811PGM1c.1320A>G (p.Lys440=)
c.1374A>G (p.Lys458=)
n.354A>G
c.729A>G (p.Lys243=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63651708A>TCA340638591PGM1c.1320A>T (p.Lys440Asn)
c.1374A>T (p.Lys458Asn)
n.354A>T
c.729A>T (p.Lys243Asn)
1g.63651708_63651711delinsAATGCA1171579948PGM1c.1320_1323delinsAATG (p.Lys440=)
c.1374_1377delinsAATG (p.Lys458=)
n.354_357delinsAATG
c.729_732delinsAATG (p.Lys243=)
1g.63651709A>CCA340638592PGM1c.1321A>C (p.Met441Leu)
c.1375A>C (p.Met459Leu)
n.355A>C
c.730A>C (p.Met244Leu)
1g.63651709A>GCA340638593PGM1c.1321A>G (p.Met441Val)
c.1375A>G (p.Met459Val)
n.355A>G
c.730A>G (p.Met244Val)
1g.63651709A>TCA340638594PGM1c.1321A>T (p.Met441Leu)
c.1375A>T (p.Met459Leu)
n.355A>T
c.730A>T (p.Met244Leu)
1g.63651713_63651715delCA1171579950PGM1c.1325_1327del (p.Met442del)
c.1379_1381del (p.Met460del)
n.359_361del
c.734_736del (p.Met245del)
 dbSNP
1g.63651710T>ACA340638595PGM1c.1322T>A (p.Met441Lys)
c.1376T>A (p.Met459Lys)
n.356T>A
c.731T>A (p.Met244Lys)
1g.63651710T>CCA340638596PGM1c.1322T>C (p.Met441Thr)
c.1376T>C (p.Met459Thr)
n.356T>C
c.731T>C (p.Met244Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.63651710T>GCA340638597PGM1c.1322T>G (p.Met441Arg)
c.1376T>G (p.Met459Arg)
n.356T>G
c.731T>G (p.Met244Arg)
1g.63651710T=CA1171579951PGM1c.1322T= (p.Met441=)
c.1376T= (p.Met459=)
n.356T=
c.731T= (p.Met244=)
1g.63651711G>ACA340638598PGM1c.1323G>A (p.Met441Ile)
c.1377G>A (p.Met459Ile)
n.357G>A
c.732G>A (p.Met244Ile)
1g.63651711G>CCA340638599PGM1c.1323G>C (p.Met441Ile)
c.1377G>C (p.Met459Ile)
n.357G>C
c.732G>C (p.Met244Ile)
1g.63651711G>TCA340638600PGM1c.1323G>T (p.Met441Ile)
c.1377G>T (p.Met459Ile)
n.357G>T
c.732G>T (p.Met244Ile)
1g.63651712A=CA1171579952PGM1c.1324A= (p.Met442=)
c.1378A= (p.Met460=)
n.358A=
c.733A= (p.Met245=)
1g.63651712A>CCA340638603PGM1c.1324A>C (p.Met442Leu)
c.1378A>C (p.Met460Leu)
n.358A>C
c.733A>C (p.Met245Leu)
1g.63651712A>GCA340638601PGM1c.1324A>G (p.Met442Val)
c.1378A>G (p.Met460Val)
n.358A>G
c.733A>G (p.Met245Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.63651712A>TCA340638602PGM1c.1324A>T (p.Met442Leu)
c.1378A>T (p.Met460Leu)
n.358A>T
c.733A>T (p.Met245Leu)
1g.63651713T>ACA340638604PGM1c.1325T>A (p.Met442Lys)
c.1379T>A (p.Met460Lys)
n.359T>A
c.734T>A (p.Met245Lys)
 gnomAD v4

Number of alleles fetched