Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.63648530C>A | CA418197582 | PGM1 | c.1158C>A (p.Ile386=) c.1212C>A (p.Ile404=) c.567C>A (p.Ile189=) | |
1 | g.63648530C>G | CA340638189 | PGM1 | c.1158C>G (p.Ile386Met) c.1212C>G (p.Ile404Met) c.567C>G (p.Ile189Met) | |
1 | g.63648530C>T | CA418197583 | PGM1 | c.1158C>T (p.Ile386=) c.1212C>T (p.Ile404=) c.567C>T (p.Ile189=) | |
1 | g.63648531C>A | CA340638191 | PGM1 | c.1159C>A (p.Arg387Ser) c.1213C>A (p.Arg405Ser) c.568C>A (p.Arg190Ser) | |
1 | g.63648531C= | CA1148440876 | PGM1 | c.1159C= (p.Arg387=) c.1213C= (p.Arg405=) c.568C= (p.Arg190=) | |
1 | g.63648531C>G | CA340638194 | PGM1 | c.1159C>G (p.Arg387Gly) c.1213C>G (p.Arg405Gly) c.568C>G (p.Arg190Gly) | gnomAD v4 |
1 | g.63648531C>T | CA889755 | PGM1 | c.1159C>T (p.Arg387Cys) c.1213C>T (p.Arg405Cys) c.568C>T (p.Arg190Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648532G>A | CA889756 | PGM1 | c.1160G>A (p.Arg387His) c.1214G>A (p.Arg405His) c.569G>A (p.Arg190His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648532G>C | CA340638196 | PGM1 | c.1160G>C (p.Arg387Pro) c.1214G>C (p.Arg405Pro) c.569G>C (p.Arg190Pro) | |
1 | g.63648532G= | CA1145819750 | PGM1 | c.1160G= (p.Arg387=) c.1214G= (p.Arg405=) c.569G= (p.Arg190=) | |
1 | g.63648532G>T | CA340638198 | PGM1 | c.1160G>T (p.Arg387Leu) c.1214G>T (p.Arg405Leu) c.569G>T (p.Arg190Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648533T>A | CA418197587 | PGM1 | c.1161T>A (p.Arg387=) c.1215T>A (p.Arg405=) c.570T>A (p.Arg190=) | |
1 | g.63648533T>C | CA418197590 | PGM1 | c.1161T>C (p.Arg387=) c.1215T>C (p.Arg405=) c.570T>C (p.Arg190=) | |
1 | g.63648533T>G | CA418197588 | PGM1 | c.1161T>G (p.Arg387=) c.1215T>G (p.Arg405=) c.570T>G (p.Arg190=) | gnomAD v3 gnomAD v4 |
1 | g.63648534G>A | CA340638200 | PGM1 | c.1162G>A (p.Glu388Lys) c.1216G>A (p.Glu406Lys) c.571G>A (p.Glu191Lys) | dbSNP COSMIC COSMIC |
1 | g.63648534G>C | CA340638202 | PGM1 | c.1162G>C (p.Glu388Gln) c.1216G>C (p.Glu406Gln) c.571G>C (p.Glu191Gln) | |
1 | g.63648534G= | CA1171578740 | PGM1 | c.1162G= (p.Glu388=) c.1216G= (p.Glu406=) c.571G= (p.Glu191=) | |
1 | g.63648534G>T | CA340638203 | PGM1 | c.1162G>T (p.Glu388Ter) c.1216G>T (p.Glu406Ter) c.571G>T (p.Glu191Ter) | |
1 | g.63648536_63648537del | CA2646029394 | PGM1 | c.1164_1165del (p.Lys389ArgfsTer?) c.1218_1219del (p.Lys407ArgfsTer?) c.573_574del (p.Lys192ArgfsTer?) | gnomAD v4 |
1 | g.63648535A>C | CA340638205 | PGM1 | c.1163A>C (p.Glu388Ala) c.1217A>C (p.Glu406Ala) c.572A>C (p.Glu191Ala) | |
1 | g.63648535A>G | CA340638206 | PGM1 | c.1163A>G (p.Glu388Gly) c.1217A>G (p.Glu406Gly) c.572A>G (p.Glu191Gly) | |
1 | g.63648535A>T | CA340638208 | PGM1 | c.1163A>T (p.Glu388Val) c.1217A>T (p.Glu406Val) c.572A>T (p.Glu191Val) | |
1 | g.63648536G>A | CA418197591 | PGM1 | c.1164G>A (p.Glu388=) c.1218G>A (p.Glu406=) c.573G>A (p.Glu191=) | |
1 | g.63648536G>C | CA340638210 | PGM1 | c.1164G>C (p.Glu388Asp) c.1218G>C (p.Glu406Asp) c.573G>C (p.Glu191Asp) | |
1 | g.63648536G>T | CA340638211 | PGM1 | c.1164G>T (p.Glu388Asp) c.1218G>T (p.Glu406Asp) c.573G>T (p.Glu191Asp) | |
1 | g.63648537A>C | CA340638216 | PGM1 | c.1165A>C (p.Lys389Gln) c.1219A>C (p.Lys407Gln) c.574A>C (p.Lys192Gln) | |
1 | g.63648537A>G | CA340638214 | PGM1 | c.1165A>G (p.Lys389Glu) c.1219A>G (p.Lys407Glu) c.574A>G (p.Lys192Glu) | |
1 | g.63648537A>T | CA340638212 | PGM1 | c.1165A>T (p.Lys389Ter) c.1219A>T (p.Lys407Ter) c.574A>T (p.Lys192Ter) | |
1 | g.63648538A>C | CA340638218 | PGM1 | c.1166A>C (p.Lys389Thr) c.1220A>C (p.Lys407Thr) c.575A>C (p.Lys192Thr) | |
1 | g.63648538A>G | CA340638220 | PGM1 | c.1166A>G (p.Lys389Arg) c.1220A>G (p.Lys407Arg) c.575A>G (p.Lys192Arg) | |
1 | g.63648538A>T | CA340638222 | PGM1 | c.1166A>T (p.Lys389Ile) c.1220A>T (p.Lys407Ile) c.575A>T (p.Lys192Ile) | |
1 | g.63648539A>C | CA340638223 | PGM1 | c.1167A>C (p.Lys389Asn) c.1221A>C (p.Lys407Asn) c.576A>C (p.Lys192Asn) | |
1 | g.63648539A>G | CA418197592 | PGM1 | c.1167A>G (p.Lys389=) c.1221A>G (p.Lys407=) c.576A>G (p.Lys192=) | |
1 | g.63648539A>T | CA340638225 | PGM1 | c.1167A>T (p.Lys389Asn) c.1221A>T (p.Lys407Asn) c.576A>T (p.Lys192Asn) | |
1 | g.63648540G>A | CA340638227 | PGM1 | c.1168G>A (p.Asp390Asn) c.1222G>A (p.Asp408Asn) c.577G>A (p.Asp193Asn) | |
1 | g.63648540G>C | CA340638229 | PGM1 | c.1168G>C (p.Asp390His) c.1222G>C (p.Asp408His) c.577G>C (p.Asp193His) | |
1 | g.63648540G>T | CA340638230 | PGM1 | c.1168G>T (p.Asp390Tyr) c.1222G>T (p.Asp408Tyr) c.577G>T (p.Asp193Tyr) | |
1 | g.63648541A= | CA1171578741 | PGM1 | c.1169A= (p.Asp390=) c.1223A= (p.Asp408=) c.578A= (p.Asp193=) | |
1 | g.63648541A>C | CA340638232 | PGM1 | c.1169A>C (p.Asp390Ala) c.1223A>C (p.Asp408Ala) c.578A>C (p.Asp193Ala) | |
1 | g.63648541A>G | CA340638234 | PGM1 | c.1169A>G (p.Asp390Gly) c.1223A>G (p.Asp408Gly) c.578A>G (p.Asp193Gly) | dbSNP gnomAD v4 |
1 | g.63648541A>T | CA340638236 | PGM1 | c.1169A>T (p.Asp390Val) c.1223A>T (p.Asp408Val) c.578A>T (p.Asp193Val) | |
1 | g.63648542T>A | CA340638241 | PGM1 | c.1170T>A (p.Asp390Glu) c.1224T>A (p.Asp408Glu) c.579T>A (p.Asp193Glu) | |
1 | g.63648542T>C | CA889757 | PGM1 | c.1170T>C (p.Asp390=) c.1224T>C (p.Asp408=) c.579T>C (p.Asp193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648542T>G | CA340638238 | PGM1 | c.1170T>G (p.Asp390Glu) c.1224T>G (p.Asp408Glu) c.579T>G (p.Asp193Glu) | |
1 | g.63648542T= | CA1171578742 | PGM1 | c.1170T= (p.Asp390=) c.1224T= (p.Asp408=) c.579T= (p.Asp193=) | |
1 | g.63648543G>A | CA340638245 | PGM1 | c.1171G>A (p.Gly391Arg) c.1225G>A (p.Gly409Arg) c.580G>A (p.Gly194Arg) | |
1 | g.63648543G>C | CA340638246 | PGM1 | c.1171G>C (p.Gly391Arg) c.1225G>C (p.Gly409Arg) c.580G>C (p.Gly194Arg) | |
1 | g.63648543G>T | CA340638243 | PGM1 | c.1171G>T (p.Gly391Ter) c.1225G>T (p.Gly409Ter) c.580G>T (p.Gly194Ter) | |
1 | g.63648544dup | CA889758 | PGM1 | c.1172dup (p.Leu392ThrfsTer?) c.1226dup (p.Leu410ThrfsTer?) c.581dup (p.Leu195ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648544G>A | CA340638247 | PGM1 | c.1172G>A (p.Gly391Glu) c.1226G>A (p.Gly409Glu) c.581G>A (p.Gly194Glu) | |
1 | g.63648544G>C | CA340638248 | PGM1 | c.1172G>C (p.Gly391Ala) c.1226G>C (p.Gly409Ala) c.581G>C (p.Gly194Ala) | dbSNP |
1 | g.63648544G= | CA1171578743 | PGM1 | c.1172G= (p.Gly391=) c.1226G= (p.Gly409=) c.581G= (p.Gly194=) | |
1 | g.63648544G>T | CA340638250 | PGM1 | c.1172G>T (p.Gly391Val) c.1226G>T (p.Gly409Val) c.581G>T (p.Gly194Val) | |
1 | g.63648545A>C | CA418197596 | PGM1 | c.1173A>C (p.Gly391=) c.1227A>C (p.Gly409=) c.582A>C (p.Gly194=) | |
1 | g.63648545A>G | CA418197597 | PGM1 | c.1173A>G (p.Gly391=) c.1227A>G (p.Gly409=) c.582A>G (p.Gly194=) | |
1 | g.63648545A>T | CA418197598 | PGM1 | c.1173A>T (p.Gly391=) c.1227A>T (p.Gly409=) c.582A>T (p.Gly194=) | |
1 | g.63648546C>A | CA340638252 | PGM1 | c.1174C>A (p.Leu392Met) c.1228C>A (p.Leu410Met) c.583C>A (p.Leu195Met) | |
1 | g.63648546C>G | CA340638254 | PGM1 | c.1174C>G (p.Leu392Val) c.1228C>G (p.Leu410Val) c.583C>G (p.Leu195Val) | gnomAD v4 |
1 | g.63648546C>T | CA418197599 | PGM1 | c.1174C>T (p.Leu392=) c.1228C>T (p.Leu410=) c.583C>T (p.Leu195=) | |
1 | g.63648547T>A | CA340638255 | PGM1 | c.1175T>A (p.Leu392Gln) c.1229T>A (p.Leu410Gln) c.584T>A (p.Leu195Gln) | gnomAD v4 |
1 | g.63648547T>C | CA340638256 | PGM1 | c.1175T>C (p.Leu392Pro) c.1229T>C (p.Leu410Pro) c.584T>C (p.Leu195Pro) | |
1 | g.63648547T>G | CA889759 | PGM1 | c.1175T>G (p.Leu392Arg) c.1229T>G (p.Leu410Arg) c.584T>G (p.Leu195Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63648547T= | CA1149069464 | PGM1 | c.1175T= (p.Leu392=) c.1229T= (p.Leu410=) c.584T= (p.Leu195=) | |
1 | g.63648548G>A | CA418197601 | PGM1 | c.1176G>A (p.Leu392=) c.1230G>A (p.Leu410=) c.585G>A (p.Leu195=) | |
1 | g.63648548G>C | CA418197602 | PGM1 | c.1176G>C (p.Leu392=) c.1230G>C (p.Leu410=) c.585G>C (p.Leu195=) | dbSNP |
1 | g.63648548G= | CA1171578744 | PGM1 | c.1176G= (p.Leu392=) c.1230G= (p.Leu410=) c.585G= (p.Leu195=) | |
1 | g.63648548G>T | CA418197603 | PGM1 | c.1176G>T (p.Leu392=) c.1230G>T (p.Leu410=) c.585G>T (p.Leu195=) | |
1 | g.63648549T>A | CA340638257 | PGM1 | c.1177T>A (p.Trp393Arg) c.1231T>A (p.Trp411Arg) c.586T>A (p.Trp196Arg) | |
1 | g.63648549T>C | CA340638258 | PGM1 | c.1177T>C (p.Trp393Arg) c.1231T>C (p.Trp411Arg) c.586T>C (p.Trp196Arg) | |
1 | g.63648549T>G | CA340638259 | PGM1 | c.1177T>G (p.Trp393Gly) c.1231T>G (p.Trp411Gly) c.586T>G (p.Trp196Gly) | |
1 | g.63648550G>A | CA340638260 | PGM1 | c.1178G>A (p.Trp393Ter) c.1232G>A (p.Trp411Ter) c.587G>A (p.Trp196Ter) | |
1 | g.63648550G>C | CA340638262 | PGM1 | c.1178G>C (p.Trp393Ser) c.1232G>C (p.Trp411Ser) c.587G>C (p.Trp196Ser) | |
1 | g.63648550G>T | CA340638261 | PGM1 | c.1178G>T (p.Trp393Leu) c.1232G>T (p.Trp411Leu) c.587G>T (p.Trp196Leu) | |
1 | g.63648551G>A | CA340638263 | PGM1 | c.1179G>A (p.Trp393Ter) c.1233G>A (p.Trp411Ter) c.588G>A (p.Trp196Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63648551G>C | CA340638264 | PGM1 | c.1179G>C (p.Trp393Cys) c.1233G>C (p.Trp411Cys) c.588G>C (p.Trp196Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63648551G= | CA1171578745 | PGM1 | c.1179G= (p.Trp393=) c.1233G= (p.Trp411=) c.588G= (p.Trp196=) | |
1 | g.63648551G>T | CA340638265 | PGM1 | c.1179G>T (p.Trp393Cys) c.1233G>T (p.Trp411Cys) c.588G>T (p.Trp196Cys) | gnomAD v4 COSMIC COSMIC |
1 | g.63648552G>A | CA340638266 | PGM1 | c.1180G>A (p.Ala394Thr) c.1234G>A (p.Ala412Thr) c.589G>A (p.Ala197Thr) | dbSNP gnomAD v2 |
1 | g.63648552G>C | CA889760 | PGM1 | c.1180G>C (p.Ala394Pro) c.1234G>C (p.Ala412Pro) c.589G>C (p.Ala197Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648552G= | CA1171578746 | PGM1 | c.1180G= (p.Ala394=) c.1234G= (p.Ala412=) c.589G= (p.Ala197=) | |
1 | g.63648552G>T | CA340638267 | PGM1 | c.1180G>T (p.Ala394Ser) c.1234G>T (p.Ala412Ser) c.589G>T (p.Ala197Ser) | |
1 | g.63648553C>A | CA340638268 | PGM1 | c.1181C>A (p.Ala394Asp) c.1235C>A (p.Ala412Asp) c.590C>A (p.Ala197Asp) | |
1 | g.63648553C>G | CA340638269 | PGM1 | c.1181C>G (p.Ala394Gly) c.1235C>G (p.Ala412Gly) c.590C>G (p.Ala197Gly) | |
1 | g.63648553C>T | CA340638270 | PGM1 | c.1181C>T (p.Ala394Val) c.1235C>T (p.Ala412Val) c.590C>T (p.Ala197Val) | |
1 | g.63648554T>A | CA418197609 | PGM1 | c.1182T>A (p.Ala394=) c.1236T>A (p.Ala412=) c.591T>A (p.Ala197=) | gnomAD v4 |
1 | g.63648554T>C | CA418197608 | PGM1 | c.1182T>C (p.Ala394=) c.1236T>C (p.Ala412=) c.591T>C (p.Ala197=) | |
1 | g.63648554T>G | CA418197607 | PGM1 | c.1182T>G (p.Ala394=) c.1236T>G (p.Ala412=) c.591T>G (p.Ala197=) | |
1 | g.63648555G>A | CA340638272 | PGM1 | c.1183G>A (p.Val395Ile) c.1237G>A (p.Val413Ile) c.592G>A (p.Val198Ile) | |
1 | g.63648555G>C | CA340638273 | PGM1 | c.1183G>C (p.Val395Leu) c.1237G>C (p.Val413Leu) c.592G>C (p.Val198Leu) | gnomAD v4 |
1 | g.63648555G>T | CA340638271 | PGM1 | c.1183G>T (p.Val395Phe) c.1237G>T (p.Val413Phe) c.592G>T (p.Val198Phe) | |
1 | g.63648556T>A | CA340638274 | PGM1 | c.1184T>A (p.Val395Asp) c.1238T>A (p.Val413Asp) c.593T>A (p.Val198Asp) | |
1 | g.63648556T>C | CA340638275 | PGM1 | c.1184T>C (p.Val395Ala) c.1238T>C (p.Val413Ala) c.593T>C (p.Val198Ala) | |
1 | g.63648556T>G | CA340638276 | PGM1 | c.1184T>G (p.Val395Gly) c.1238T>G (p.Val413Gly) c.593T>G (p.Val198Gly) | |
1 | g.63648557C>A | CA418197610 | PGM1 | c.1185C>A (p.Val395=) c.1239C>A (p.Val413=) c.594C>A (p.Val198=) | |
1 | g.63648557C>G | CA418197612 | PGM1 | c.1185C>G (p.Val395=) c.1239C>G (p.Val413=) c.594C>G (p.Val198=) | |
1 | g.63648557C>T | CA418197613 | PGM1 | c.1185C>T (p.Val395=) c.1239C>T (p.Val413=) c.594C>T (p.Val198=) | |
1 | g.63648558C>A | CA340638277 | PGM1 | c.1186C>A (p.Leu396Ile) c.1240C>A (p.Leu414Ile) c.595C>A (p.Leu199Ile) | |
1 | g.63648558C= | CA1171578747 | PGM1 | c.1186C= (p.Leu396=) c.1240C= (p.Leu414=) c.595C= (p.Leu199=) | |
1 | g.63648558C>G | CA340638278 | PGM1 | c.1186C>G (p.Leu396Val) c.1240C>G (p.Leu414Val) c.595C>G (p.Leu199Val) | ClinVar dbSNP gnomAD v4 |
1 | g.63648558C>T | CA340638279 | PGM1 | c.1186C>T (p.Leu396Phe) c.1240C>T (p.Leu414Phe) c.595C>T (p.Leu199Phe) | |
1 | g.63648559T>A | CA340638280 | PGM1 | c.1187T>A (p.Leu396His) c.1241T>A (p.Leu414His) c.596T>A (p.Leu199His) | |
1 | g.63648559T>C | CA340638281 | PGM1 | c.1187T>C (p.Leu396Pro) c.1241T>C (p.Leu414Pro) c.596T>C (p.Leu199Pro) | |
1 | g.63648559T>G | CA340638282 | PGM1 | c.1187T>G (p.Leu396Arg) c.1241T>G (p.Leu414Arg) c.596T>G (p.Leu199Arg) | |
1 | g.63648560T>A | CA418197614 | PGM1 | c.1188T>A (p.Leu396=) c.1242T>A (p.Leu414=) c.597T>A (p.Leu199=) | |
1 | g.63648560T>C | CA889761 | PGM1 | c.1188T>C (p.Leu396=) c.1242T>C (p.Leu414=) c.597T>C (p.Leu199=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648560T>G | CA418197615 | PGM1 | c.1188T>G (p.Leu396=) c.1242T>G (p.Leu414=) c.597T>G (p.Leu199=) | |
1 | g.63648560T= | CA1171578748 | PGM1 | c.1188T= (p.Leu396=) c.1242T= (p.Leu414=) c.597T= (p.Leu199=) | |
1 | g.63648561G>A | CA340638283 | PGM1 | c.1189G>A (p.Ala397Thr) c.1243G>A (p.Ala415Thr) c.598G>A (p.Ala200Thr) | |
1 | g.63648561G>C | CA340638284 | PGM1 | c.1189G>C (p.Ala397Pro) c.1243G>C (p.Ala415Pro) c.598G>C (p.Ala200Pro) | |
1 | g.63648561G= | CA1171578749 | PGM1 | c.1189G= (p.Ala397=) c.1243G= (p.Ala415=) c.598G= (p.Ala200=) | |
1 | g.63648561G>T | CA340638285 | PGM1 | c.1189G>T (p.Ala397Ser) c.1243G>T (p.Ala415Ser) c.598G>T (p.Ala200Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63648562C>A | CA340638287 | PGM1 | c.1190C>A (p.Ala397Asp) c.1244C>A (p.Ala415Asp) c.599C>A (p.Ala200Asp) | |
1 | g.63648562C= | CA1171578750 | PGM1 | c.1190C= (p.Ala397=) c.1244C= (p.Ala415=) c.599C= (p.Ala200=) | |
1 | g.63648562C>G | CA340638286 | PGM1 | c.1190C>G (p.Ala397Gly) c.1244C>G (p.Ala415Gly) c.599C>G (p.Ala200Gly) | |
1 | g.63648562C>T | CA889762 | PGM1 | c.1190C>T (p.Ala397Val) c.1244C>T (p.Ala415Val) c.599C>T (p.Ala200Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.63648563C>A | CA418197616 | PGM1 | c.1191C>A (p.Ala397=) c.1245C>A (p.Ala415=) c.600C>A (p.Ala200=) | ClinVar |
1 | g.63648563C>G | CA418197617 | PGM1 | c.1191C>G (p.Ala397=) c.1245C>G (p.Ala415=) c.600C>G (p.Ala200=) | |
1 | g.63648563C>T | CA418197618 | PGM1 | c.1191C>T (p.Ala397=) c.1245C>T (p.Ala415=) c.600C>T (p.Ala200=) | |
1 | g.63648564T>A | CA340638288 | PGM1 | c.1192T>A (p.Trp398Arg) c.1246T>A (p.Trp416Arg) c.601T>A (p.Trp201Arg) | |
1 | g.63648564T>C | CA340638289 | PGM1 | c.1192T>C (p.Trp398Arg) c.1246T>C (p.Trp416Arg) c.601T>C (p.Trp201Arg) | |
1 | g.63648564T>G | CA340638290 | PGM1 | c.1192T>G (p.Trp398Gly) c.1246T>G (p.Trp416Gly) c.601T>G (p.Trp201Gly) | |
1 | g.63648565G>A | CA340638291 | PGM1 | c.1193G>A (p.Trp398Ter) c.1247G>A (p.Trp416Ter) c.602G>A (p.Trp201Ter) | |
1 | g.63648565G>C | CA340638292 | PGM1 | c.1193G>C (p.Trp398Ser) c.1247G>C (p.Trp416Ser) c.602G>C (p.Trp201Ser) | |
1 | g.63648565G>T | CA340638293 | PGM1 | c.1193G>T (p.Trp398Leu) c.1247G>T (p.Trp416Leu) c.602G>T (p.Trp201Leu) | |
1 | g.63648566G>A | CA340638294 | PGM1 | c.1194G>A (p.Trp398Ter) c.1248G>A (p.Trp416Ter) c.603G>A (p.Trp201Ter) | |
1 | g.63648566G>C | CA340638295 | PGM1 | c.1194G>C (p.Trp398Cys) c.1248G>C (p.Trp416Cys) c.603G>C (p.Trp201Cys) | |
1 | g.63648566G>T | CA340638296 | PGM1 | c.1194G>T (p.Trp398Cys) c.1248G>T (p.Trp416Cys) c.603G>T (p.Trp201Cys) | |
1 | g.63648567C>A | CA340638297 | PGM1 | c.1195C>A (p.Leu399Ile) c.1249C>A (p.Leu417Ile) c.604C>A (p.Leu202Ile) | |
1 | g.63648567C= | CA1143393189 | PGM1 | c.1195C= (p.Leu399=) c.1249C= (p.Leu417=) c.604C= (p.Leu202=) | |
1 | g.63648567C>G | CA889763 | PGM1 | c.1195C>G (p.Leu399Val) c.1249C>G (p.Leu417Val) c.604C>G (p.Leu202Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648567C>T | CA340638298 | PGM1 | c.1195C>T (p.Leu399Phe) c.1249C>T (p.Leu417Phe) c.604C>T (p.Leu202Phe) | |
1 | g.63648568T>A | CA340638301 | PGM1 | c.1196T>A (p.Leu399His) c.1250T>A (p.Leu417His) c.605T>A (p.Leu202His) | |
1 | g.63648568T>C | CA340638300 | PGM1 | c.1196T>C (p.Leu399Pro) c.1250T>C (p.Leu417Pro) c.605T>C (p.Leu202Pro) | dbSNP gnomAD v4 |
1 | g.63648568T>G | CA340638299 | PGM1 | c.1196T>G (p.Leu399Arg) c.1250T>G (p.Leu417Arg) c.605T>G (p.Leu202Arg) | |
1 | g.63648568T= | CA1171578751 | PGM1 | c.1196T= (p.Leu399=) c.1250T= (p.Leu417=) c.605T= (p.Leu202=) | |
1 | g.63648569C>A | CA418197619 | PGM1 | c.1197C>A (p.Leu399=) c.1251C>A (p.Leu417=) c.606C>A (p.Leu202=) | |
1 | g.63648569C= | CA1171578752 | PGM1 | c.1197C= (p.Leu399=) c.1251C= (p.Leu417=) c.606C= (p.Leu202=) | |
1 | g.63648569C>G | CA418197620 | PGM1 | c.1197C>G (p.Leu399=) c.1251C>G (p.Leu417=) c.606C>G (p.Leu202=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63648569C>T | CA418197621 | PGM1 | c.1197C>T (p.Leu399=) c.1251C>T (p.Leu417=) c.606C>T (p.Leu202=) | dbSNP gnomAD v4 |
1 | g.63648570T>A | CA340638302 | PGM1 | c.1198T>A (p.Ser400Thr) c.1252T>A (p.Ser418Thr) c.607T>A (p.Ser203Thr) | |
1 | g.63648570T>C | CA340638303 | PGM1 | c.1198T>C (p.Ser400Pro) c.1252T>C (p.Ser418Pro) c.607T>C (p.Ser203Pro) | |
1 | g.63648570T>G | CA340638304 | PGM1 | c.1198T>G (p.Ser400Ala) c.1252T>G (p.Ser418Ala) c.607T>G (p.Ser203Ala) | |
1 | g.63648571C>A | CA340638305 | PGM1 | c.1199C>A (p.Ser400Tyr) c.1253C>A (p.Ser418Tyr) c.608C>A (p.Ser203Tyr) | |
1 | g.63648571C= | CA1171578753 | PGM1 | c.1199C= (p.Ser400=) c.1253C= (p.Ser418=) c.608C= (p.Ser203=) | |
1 | g.63648571C>G | CA889764 | PGM1 | c.1199C>G (p.Ser400Cys) c.1253C>G (p.Ser418Cys) c.608C>G (p.Ser203Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648571C>T | CA340638306 | PGM1 | c.1199C>T (p.Ser400Phe) c.1253C>T (p.Ser418Phe) c.608C>T (p.Ser203Phe) | |
1 | g.63648572C>A | CA418197622 | PGM1 | c.1200C>A (p.Ser400=) c.1254C>A (p.Ser418=) c.609C>A (p.Ser203=) | |
1 | g.63648572C= | CA1171578754 | PGM1 | c.1200C= (p.Ser400=) c.1254C= (p.Ser418=) c.609C= (p.Ser203=) | |
1 | g.63648572C>G | CA418197624 | PGM1 | c.1200C>G (p.Ser400=) c.1254C>G (p.Ser418=) c.609C>G (p.Ser203=) | |
1 | g.63648572C>T | CA418197625 | PGM1 | c.1200C>T (p.Ser400=) c.1254C>T (p.Ser418=) c.609C>T (p.Ser203=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63648573A= | CA1171578755 | PGM1 | c.1201A= (p.Ile401=) c.1255A= (p.Ile419=) c.610A= (p.Ile204=) | |
1 | g.63648573A>C | CA340638308 | PGM1 | c.1201A>C (p.Ile401Leu) c.1255A>C (p.Ile419Leu) c.610A>C (p.Ile204Leu) | |
1 | g.63648573A>G | CA889765 | PGM1 | c.1201A>G (p.Ile401Val) c.1255A>G (p.Ile419Val) c.610A>G (p.Ile204Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63648573A>T | CA340638307 | PGM1 | c.1201A>T (p.Ile401Phe) c.1255A>T (p.Ile419Phe) c.610A>T (p.Ile204Phe) | |
1 | g.63648574T>A | CA340638309 | PGM1 | c.1202T>A (p.Ile401Asn) c.1256T>A (p.Ile419Asn) c.611T>A (p.Ile204Asn) | |
1 | g.63648574T>C | CA340638310 | PGM1 | c.1202T>C (p.Ile401Thr) c.1256T>C (p.Ile419Thr) c.611T>C (p.Ile204Thr) | |
1 | g.63648574T>G | CA340638311 | PGM1 | c.1202T>G (p.Ile401Ser) c.1256T>G (p.Ile419Ser) c.611T>G (p.Ile204Ser) | |
1 | g.63648575C>A | CA418197627 | PGM1 | c.1203C>A (p.Ile401=) c.1257C>A (p.Ile419=) c.612C>A (p.Ile204=) | |
1 | g.63648575C= | CA1171578756 | PGM1 | c.1203C= (p.Ile401=) c.1257C= (p.Ile419=) c.612C= (p.Ile204=) | |
1 | g.63648575C>G | CA340638312 | PGM1 | c.1203C>G (p.Ile401Met) c.1257C>G (p.Ile419Met) c.612C>G (p.Ile204Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63648575C>T | CA418197628 | PGM1 | c.1203C>T (p.Ile401=) c.1257C>T (p.Ile419=) c.612C>T (p.Ile204=) | |
1 | g.63648576C>A | CA340638313 | PGM1 | c.1204C>A (p.Leu402Ile) c.1258C>A (p.Leu420Ile) c.613C>A (p.Leu205Ile) | |
1 | g.63648576C= | CA1171578757 | PGM1 | c.1204C= (p.Leu402=) c.1258C= (p.Leu420=) c.613C= (p.Leu205=) | |
1 | g.63648576C>G | CA889766 | PGM1 | c.1204C>G (p.Leu402Val) c.1258C>G (p.Leu420Val) c.613C>G (p.Leu205Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648576C>T | CA418197629 | PGM1 | c.1204C>T (p.Leu402=) c.1258C>T (p.Leu420=) c.613C>T (p.Leu205=) | |
1 | g.63648577T>A | CA340638314 | PGM1 | c.1205T>A (p.Leu402Gln) c.1259T>A (p.Leu420Gln) c.614T>A (p.Leu205Gln) | |
1 | g.63648577T>C | CA340638316 | PGM1 | c.1205T>C (p.Leu402Pro) c.1259T>C (p.Leu420Pro) c.614T>C (p.Leu205Pro) | |
1 | g.63648577T>G | CA340638315 | PGM1 | c.1205T>G (p.Leu402Arg) c.1259T>G (p.Leu420Arg) c.614T>G (p.Leu205Arg) | |
1 | g.63648577dup | CA2646029403 | PGM1 | c.1205dup (p.Ala403SerfsTer27) c.1259dup (p.Ala421SerfsTer27) c.614dup (p.Ala206SerfsTer27) | gnomAD v4 |
1 | g.63648578A>C | CA418197630 | PGM1 | c.1206A>C (p.Leu402=) c.1260A>C (p.Leu420=) c.615A>C (p.Leu205=) | ClinVar dbSNP gnomAD v4 |
1 | g.63648578A>G | CA418197631 | PGM1 | c.1206A>G (p.Leu402=) c.1260A>G (p.Leu420=) c.615A>G (p.Leu205=) | |
1 | g.63648578A>T | CA418197632 | PGM1 | c.1206A>T (p.Leu402=) c.1260A>T (p.Leu420=) c.615A>T (p.Leu205=) | |
1 | g.63648579G>A | CA340638317 | PGM1 | c.1207G>A (p.Ala403Thr) c.1261G>A (p.Ala421Thr) c.616G>A (p.Ala206Thr) | |
1 | g.63648579G>C | CA340638318 | PGM1 | c.1207G>C (p.Ala403Pro) c.1261G>C (p.Ala421Pro) c.616G>C (p.Ala206Pro) | |
1 | g.63648579G>T | CA340638319 | PGM1 | c.1207G>T (p.Ala403Ser) c.1261G>T (p.Ala421Ser) c.616G>T (p.Ala206Ser) | |
1 | g.63648580C>A | CA340638320 | PGM1 | c.1208C>A (p.Ala403Asp) c.1262C>A (p.Ala421Asp) c.617C>A (p.Ala206Asp) | |
1 | g.63648580C>G | CA340638321 | PGM1 | c.1208C>G (p.Ala403Gly) c.1262C>G (p.Ala421Gly) c.617C>G (p.Ala206Gly) | |
1 | g.63648580C>T | CA340638322 | PGM1 | c.1208C>T (p.Ala403Val) c.1262C>T (p.Ala421Val) c.617C>T (p.Ala206Val) | |
1 | g.63648580_63648589delinsCCACCCGCAA | CA1171578758 | PGM1 | c.1208_1217delinsCCACCCGCAA (p.Ala403=) c.1262_1271delinsCCACCCGCAA (p.Ala421=) c.617_626delinsCCACCCGCAA (p.Ala206=) | |
1 | g.63648581C>A | CA418197634 | PGM1 | c.1209C>A (p.Ala403=) c.1263C>A (p.Ala421=) c.618C>A (p.Ala206=) | ClinVar |
1 | g.63648581C>G | CA418197635 | PGM1 | c.1209C>G (p.Ala403=) c.1263C>G (p.Ala421=) c.618C>G (p.Ala206=) | |
1 | g.63648581C>T | CA418197636 | PGM1 | c.1209C>T (p.Ala403=) c.1263C>T (p.Ala421=) c.618C>T (p.Ala206=) | |
1 | g.63648581_63648589del | CA1002499555 | PGM1 | c.1209_1217del (p.Thr404_Lys406del) c.1263_1271del (p.Thr422_Lys424del) c.618_626del (p.Thr207_Lys209del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63648582A>C | CA340638323 | PGM1 | c.1210A>C (p.Thr404Pro) c.1264A>C (p.Thr422Pro) c.619A>C (p.Thr207Pro) | |
1 | g.63648582A>G | CA340638324 | PGM1 | c.1210A>G (p.Thr404Ala) c.1264A>G (p.Thr422Ala) c.619A>G (p.Thr207Ala) | |
1 | g.63648582A>T | CA340638325 | PGM1 | c.1210A>T (p.Thr404Ser) c.1264A>T (p.Thr422Ser) c.619A>T (p.Thr207Ser) | |
1 | g.63648583C>A | CA340638326 | PGM1 | c.1211C>A (p.Thr404Asn) c.1265C>A (p.Thr422Asn) c.620C>A (p.Thr207Asn) | |
1 | g.63648583C= | CA1171578759 | PGM1 | c.1211C= (p.Thr404=) c.1265C= (p.Thr422=) c.620C= (p.Thr207=) | |
1 | g.63648583C>G | CA340638327 | PGM1 | c.1211C>G (p.Thr404Ser) c.1265C>G (p.Thr422Ser) c.620C>G (p.Thr207Ser) | |
1 | g.63648583C>T | CA340638328 | PGM1 | c.1211C>T (p.Thr404Ile) c.1265C>T (p.Thr422Ile) c.620C>T (p.Thr207Ile) | dbSNP |
1 | g.63648584C>A | CA418197637 | PGM1 | c.1212C>A (p.Thr404=) c.1266C>A (p.Thr422=) c.621C>A (p.Thr207=) | |
1 | g.63648584C>G | CA418197638 | PGM1 | c.1212C>G (p.Thr404=) c.1266C>G (p.Thr422=) c.621C>G (p.Thr207=) | |
1 | g.63648584C>T | CA418197639 | PGM1 | c.1212C>T (p.Thr404=) c.1266C>T (p.Thr422=) c.621C>T (p.Thr207=) | |
1 | g.63648585C>A | CA889768 | PGM1 | c.1213C>A (p.Arg405Ser) c.1267C>A (p.Arg423Ser) c.622C>A (p.Arg208Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648585C= | CA1171578760 | PGM1 | c.1213C= (p.Arg405=) c.1267C= (p.Arg423=) c.622C= (p.Arg208=) | |
1 | g.63648585C>G | CA340638329 | PGM1 | c.1213C>G (p.Arg405Gly) c.1267C>G (p.Arg423Gly) c.622C>G (p.Arg208Gly) | |
1 | g.63648585C>T | CA889767 | PGM1 | c.1213C>T (p.Arg405Cys) c.1267C>T (p.Arg423Cys) c.622C>T (p.Arg208Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.63648586G>A | CA889769 | PGM1 | c.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 |
1 | g.63648586G>C | CA340638330 | PGM1 | c.1214G>C (p.Arg405Pro) c.1268G>C (p.Arg423Pro) c.623G>C (p.Arg208Pro) | |
1 | g.63648586G= | CA1171578761 | PGM1 | c.1214G= (p.Arg405=) c.1268G= (p.Arg423=) c.623G= (p.Arg208=) | |
1 | g.63648586G>T | CA340638331 | PGM1 | c.1214G>T (p.Arg405Leu) c.1268G>T (p.Arg423Leu) c.623G>T (p.Arg208Leu) | gnomAD v4 |
1 | g.63648587C>A | CA418197640 | PGM1 | c.1215C>A (p.Arg405=) c.1269C>A (p.Arg423=) c.624C>A (p.Arg208=) | |
1 | g.63648587C= | CA1171578762 | PGM1 | c.1215C= (p.Arg405=) c.1269C= (p.Arg423=) c.624C= (p.Arg208=) | |
1 | g.63648587C>G | CA418197642 | PGM1 | c.1215C>G (p.Arg405=) c.1269C>G (p.Arg423=) c.624C>G (p.Arg208=) | dbSNP |
1 | g.63648587C>T | CA418197641 | PGM1 | c.1215C>T (p.Arg405=) c.1269C>T (p.Arg423=) c.624C>T (p.Arg208=) | |
1 | g.63648588A>C | CA340638332 | PGM1 | c.1216A>C (p.Lys406Gln) c.1270A>C (p.Lys424Gln) c.625A>C (p.Lys209Gln) | gnomAD v4 |
1 | g.63648588A>G | CA340638333 | PGM1 | c.1216A>G (p.Lys406Glu) c.1270A>G (p.Lys424Glu) c.625A>G (p.Lys209Glu) | |
1 | g.63648588A>T | CA340638334 | PGM1 | c.1216A>T (p.Lys406Ter) c.1270A>T (p.Lys424Ter) c.625A>T (p.Lys209Ter) | |
1 | g.63648589A>C | CA340638335 | PGM1 | c.1217A>C (p.Lys406Thr) c.1271A>C (p.Lys424Thr) c.626A>C (p.Lys209Thr) | |
1 | g.63648589A>G | CA340638336 | PGM1 | c.1217A>G (p.Lys406Arg) c.1271A>G (p.Lys424Arg) c.626A>G (p.Lys209Arg) | |
1 | g.63648589A>T | CA340638337 | PGM1 | c.1217A>T (p.Lys406Met) c.1271A>T (p.Lys424Met) c.626A>T (p.Lys209Met) | |
1 | g.63648590G>A | CA889770 | PGM1 | c.1218G>A (p.Lys406=) c.1272G>A (p.Lys424=) c.627G>A (p.Lys209=) | dbSNP ExAC |
1 | g.63648590G>C | CA340638338 | PGM1 | c.1218G>C (p.Lys406Asn) c.1272G>C (p.Lys424Asn) c.627G>C (p.Lys209Asn) | |
1 | g.63648590G= | CA1171578763 | PGM1 | c.1218G= (p.Lys406=) c.1272G= (p.Lys424=) c.627G= (p.Lys209=) | |
1 | g.63648590G>T | CA340638339 | PGM1 | c.1218G>T (p.Lys406Asn) c.1272G>T (p.Lys424Asn) c.627G>T (p.Lys209Asn) | |
1 | g.63648591C>A | CA340638342 | PGM1 | c.1219C>A (p.Gln407Lys) c.1273C>A (p.Gln425Lys) c.628C>A (p.Gln210Lys) | |
1 | g.63648591C>G | CA340638341 | PGM1 | c.1219C>G (p.Gln407Glu) c.1273C>G (p.Gln425Glu) c.628C>G (p.Gln210Glu) | gnomAD v4 |
1 | g.63648591C>T | CA340638340 | PGM1 | c.1219C>T (p.Gln407Ter) c.1273C>T (p.Gln425Ter) c.628C>T (p.Gln210Ter) | |
1 | g.63648592A>C | CA340638343 | PGM1 | c.1220A>C (p.Gln407Pro) c.1274A>C (p.Gln425Pro) c.629A>C (p.Gln210Pro) | |
1 | g.63648592A>G | CA340638344 | PGM1 | c.1220A>G (p.Gln407Arg) c.1274A>G (p.Gln425Arg) c.629A>G (p.Gln210Arg) | |
1 | g.63648592A>T | CA340638345 | PGM1 | c.1220A>T (p.Gln407Leu) c.1274A>T (p.Gln425Leu) c.629A>T (p.Gln210Leu) | |
1 | g.63648593G>A | CA418197643 | PGM1 | c.1221G>A (p.Gln407=) c.1275G>A (p.Gln425=) c.630G>A (p.Gln210=) | |
1 | g.63648593G>C | CA340638346 | PGM1 | c.1221G>C (p.Gln407His) c.1275G>C (p.Gln425His) c.630G>C (p.Gln210His) | COSMIC COSMIC |
1 | g.63648593G>T | CA340638347 | PGM1 | c.1221G>T (p.Gln407His) c.1275G>T (p.Gln425His) c.630G>T (p.Gln210His) | |
1 | g.63648594A= | CA1171578764 | PGM1 | c.1222A= (p.Ser408=) c.1276A= (p.Ser426=) c.631A= (p.Ser211=) | |
1 | g.63648594A>C | CA340638349 | PGM1 | c.1222A>C (p.Ser408Arg) c.1276A>C (p.Ser426Arg) c.631A>C (p.Ser211Arg) | |
1 | g.63648594A>G | CA340638351 | PGM1 | c.1222A>G (p.Ser408Gly) c.1276A>G (p.Ser426Gly) c.631A>G (p.Ser211Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63648594A>T | CA340638352 | PGM1 | c.1222A>T (p.Ser408Cys) c.1276A>T (p.Ser426Cys) c.631A>T (p.Ser211Cys) | |
1 | g.63648595G>A | CA340638353 | PGM1 | c.1223G>A (p.Ser408Asn) c.1277G>A (p.Ser426Asn) c.632G>A (p.Ser211Asn) | |
1 | g.63648595G>C | CA340638354 | PGM1 | c.1223G>C (p.Ser408Thr) c.1277G>C (p.Ser426Thr) c.632G>C (p.Ser211Thr) | |
1 | g.63648595G>T | CA340638355 | PGM1 | c.1223G>T (p.Ser408Ile) c.1277G>T (p.Ser426Ile) c.632G>T (p.Ser211Ile) | |
1 | g.63648596T>A | CA340638356 | PGM1 | c.1224T>A (p.Ser408Arg) c.1278T>A (p.Ser426Arg) c.633T>A (p.Ser211Arg) | |
1 | g.63648596T>C | CA418197644 | PGM1 | c.1224T>C (p.Ser408=) c.1278T>C (p.Ser426=) c.633T>C (p.Ser211=) | dbSNP gnomAD v4 |
1 | g.63648596T>G | CA340638357 | PGM1 | c.1224T>G (p.Ser408Arg) c.1278T>G (p.Ser426Arg) c.633T>G (p.Ser211Arg) | |
1 | g.63648596T= | CA1171578765 | PGM1 | c.1224T= (p.Ser408=) c.1278T= (p.Ser426=) c.633T= (p.Ser211=) | |
1 | g.63648597G>A | CA340638359 | PGM1 | c.1225G>A (p.Val409Met) c.1279G>A (p.Val427Met) c.634G>A (p.Val212Met) | |
1 | g.63648597G>C | CA340638360 | PGM1 | c.1225G>C (p.Val409Leu) c.1279G>C (p.Val427Leu) c.634G>C (p.Val212Leu) | |
1 | g.63648597G= | CA1171578766 | PGM1 | c.1225G= (p.Val409=) c.1279G= (p.Val427=) c.634G= (p.Val212=) | |
1 | g.63648597G>T | CA340638358 | PGM1 | c.1225G>T (p.Val409Leu) c.1279G>T (p.Val427Leu) c.634G>T (p.Val212Leu) | dbSNP |
1 | g.63648598T>A | CA340638361 | PGM1 | c.1226T>A (p.Val409Glu) c.1280T>A (p.Val427Glu) c.635T>A (p.Val212Glu) | |
1 | g.63648598T>C | CA340638363 | PGM1 | c.1226T>C (p.Val409Ala) c.1280T>C (p.Val427Ala) c.635T>C (p.Val212Ala) | |
1 | g.63648598T>G | CA340638362 | PGM1 | c.1226T>G (p.Val409Gly) c.1280T>G (p.Val427Gly) c.635T>G (p.Val212Gly) | |
1 | g.63648599G>A | CA418197645 | PGM1 | c.1227G>A (p.Val409=) c.1281G>A (p.Val427=) c.636G>A (p.Val212=) | gnomAD v4 |
1 | g.63648599G>C | CA418197647 | PGM1 | c.1227G>C (p.Val409=) c.1281G>C (p.Val427=) c.636G>C (p.Val212=) | |
1 | g.63648599G>T | CA418197646 | PGM1 | c.1227G>T (p.Val409=) c.1281G>T (p.Val427=) c.636G>T (p.Val212=) | |
1 | g.63648600dup | CA2842258020 | PGM1 | c.1228dup (p.Glu410GlyfsTer20) c.1282dup (p.Glu428GlyfsTer20) c.637dup (p.Glu213GlyfsTer20) | |
1 | g.63648600del | CA2646029411 | PGM1 | c.1228del (p.Glu410ArgfsTer?) c.1282del (p.Glu428ArgfsTer?) c.637del (p.Glu213ArgfsTer?) | gnomAD v4 |
1 | g.63648600G>A | CA340638364 | PGM1 | c.1228G>A (p.Glu410Lys) c.1282G>A (p.Glu428Lys) c.637G>A (p.Glu213Lys) | COSMIC COSMIC |
1 | g.63648600G>C | CA340638365 | PGM1 | c.1228G>C (p.Glu410Gln) c.1282G>C (p.Glu428Gln) c.637G>C (p.Glu213Gln) | |
1 | g.63648600G>T | CA340638366 | PGM1 | c.1228G>T (p.Glu410Ter) c.1282G>T (p.Glu428Ter) c.637G>T (p.Glu213Ter) | |
1 | g.63648600_63648601delinsGA | CA1171578767 | PGM1 | c.1228_1229delinsGA (p.Glu410=) c.1282_1283delinsGA (p.Glu428=) c.637_638delinsGA (p.Glu213=) | |
1 | g.63648601del | CA889771 | PGM1 | c.1229del (p.Glu410GlyfsTer?) c.1283del (p.Glu428GlyfsTer?) c.638del (p.Glu213GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63648601A>C | CA340638367 | PGM1 | c.1229A>C (p.Glu410Ala) c.1283A>C (p.Glu428Ala) c.638A>C (p.Glu213Ala) | |
1 | g.63648601A>G | CA340638368 | PGM1 | c.1229A>G (p.Glu410Gly) c.1283A>G (p.Glu428Gly) c.638A>G (p.Glu213Gly) | |
1 | g.63648601A>T | CA340638369 | PGM1 | c.1229A>T (p.Glu410Val) c.1283A>T (p.Glu428Val) c.638A>T (p.Glu213Val) | |
1 | g.63648602G>A | CA418197648 | PGM1 | c.1230G>A (p.Glu410=) c.1284G>A (p.Glu428=) c.639G>A (p.Glu213=) | |
1 | g.63648602G>C | CA340638370 | PGM1 | c.1230G>C (p.Glu410Asp) c.1284G>C (p.Glu428Asp) c.639G>C (p.Glu213Asp) | |
1 | g.63648602G>T | CA340638371 | PGM1 | c.1230G>T (p.Glu410Asp) c.1284G>T (p.Glu428Asp) c.639G>T (p.Glu213Asp) | |
1 | g.63648603G>A | CA340638372 | PGM1 | c.1231G>A (p.Asp411Asn) c.1285G>A (p.Asp429Asn) c.640G>A (p.Asp214Asn) | gnomAD v4 |
1 | g.63648603G>C | CA340638373 | PGM1 | c.1231G>C (p.Asp411His) c.1285G>C (p.Asp429His) c.640G>C (p.Asp214His) | COSMIC COSMIC |
1 | g.63648603G>T | CA340638374 | PGM1 | c.1231G>T (p.Asp411Tyr) c.1285G>T (p.Asp429Tyr) c.640G>T (p.Asp214Tyr) | gnomAD v4 |
1 | g.63648604A= | CA1171578768 | PGM1 | c.1232A= (p.Asp411=) c.1286A= (p.Asp429=) c.641A= (p.Asp214=) | |
1 | g.63648604A>C | CA340638375 | PGM1 | c.1232A>C (p.Asp411Ala) c.1286A>C (p.Asp429Ala) c.641A>C (p.Asp214Ala) | |
1 | g.63648604A>G | CA889772 | PGM1 | c.1232A>G (p.Asp411Gly) c.1286A>G (p.Asp429Gly) c.641A>G (p.Asp214Gly) | dbSNP ExAC gnomAD v2 |
1 | g.63648604A>T | CA340638376 | PGM1 | c.1232A>T (p.Asp411Val) c.1286A>T (p.Asp429Val) c.641A>T (p.Asp214Val) | dbSNP gnomAD v4 |
1 | g.63648605C>A | CA340638377 | PGM1 | c.1233C>A (p.Asp411Glu) c.1287C>A (p.Asp429Glu) c.642C>A (p.Asp214Glu) | |
1 | g.63648605C= | CA1171578769 | PGM1 | c.1233C= (p.Asp411=) c.1287C= (p.Asp429=) c.642C= (p.Asp214=) | |
1 | g.63648605C>G | CA340638378 | PGM1 | c.1233C>G (p.Asp411Glu) c.1287C>G (p.Asp429Glu) c.642C>G (p.Asp214Glu) | |
1 | g.63648605C>T | CA418197649 | PGM1 | c.1233C>T (p.Asp411=) c.1287C>T (p.Asp429=) c.642C>T (p.Asp214=) | ClinVar dbSNP |
1 | g.63648606A= | CA1147288706 | PGM1 | c.1234A= (p.Ile412=) c.1288A= (p.Ile430=) c.643A= (p.Ile215=) | |
1 | g.63648606A>C | CA889773 | PGM1 | c.1234A>C (p.Ile412Leu) c.1288A>C (p.Ile430Leu) c.643A>C (p.Ile215Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648606A>G | CA340638379 | PGM1 | c.1234A>G (p.Ile412Val) c.1288A>G (p.Ile430Val) c.643A>G (p.Ile215Val) | gnomAD v4 |
1 | g.63648606A>T | CA340638380 | PGM1 | c.1234A>T (p.Ile412Phe) c.1288A>T (p.Ile430Phe) c.643A>T (p.Ile215Phe) | |
1 | g.63648607T>A | CA340638381 | PGM1 | c.1235T>A (p.Ile412Asn) c.1289T>A (p.Ile430Asn) c.644T>A (p.Ile215Asn) | |
1 | g.63648607T>C | CA340638382 | PGM1 | c.1235T>C (p.Ile412Thr) c.1289T>C (p.Ile430Thr) c.644T>C (p.Ile215Thr) | |
1 | g.63648607T>G | CA340638383 | PGM1 | c.1235T>G (p.Ile412Ser) c.1289T>G (p.Ile430Ser) c.644T>G (p.Ile215Ser) | |
1 | g.63648608T>A | CA418197650 | PGM1 | c.1236T>A (p.Ile412=) c.1290T>A (p.Ile430=) c.645T>A (p.Ile215=) | |
1 | g.63648608T>C | CA418197651 | PGM1 | c.1236T>C (p.Ile412=) c.1290T>C (p.Ile430=) c.645T>C (p.Ile215=) | |
1 | g.63648608T>G | CA340638384 | PGM1 | c.1236T>G (p.Ile412Met) c.1290T>G (p.Ile430Met) c.645T>G (p.Ile215Met) | |
1 | g.63648609C>A | CA340638386 | PGM1 | c.1237C>A (p.Leu413Ile) c.1291C>A (p.Leu431Ile) c.646C>A (p.Leu216Ile) | |
1 | g.63648609C>G | CA340638387 | PGM1 | c.1237C>G (p.Leu413Val) c.1291C>G (p.Leu431Val) c.646C>G (p.Leu216Val) | |
1 | g.63648609C>T | CA340638385 | PGM1 | c.1237C>T (p.Leu413Phe) c.1291C>T (p.Leu431Phe) c.646C>T (p.Leu216Phe) | |
1 | g.63648610T>A | CA340638388 | PGM1 | c.1238T>A (p.Leu413His) c.1292T>A (p.Leu431His) c.647T>A (p.Leu216His) | |
1 | g.63648610T>C | CA340638389 | PGM1 | c.1238T>C (p.Leu413Pro) c.1292T>C (p.Leu431Pro) c.647T>C (p.Leu216Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63648610T>G | CA340638390 | PGM1 | c.1238T>G (p.Leu413Arg) c.1292T>G (p.Leu431Arg) c.647T>G (p.Leu216Arg) | |
1 | g.63648610T= | CA1171578770 | PGM1 | c.1238T= (p.Leu413=) c.1292T= (p.Leu431=) c.647T= (p.Leu216=) | |
1 | g.63648611C>A | CA418197652 | PGM1 | c.1239C>A (p.Leu413=) c.1293C>A (p.Leu431=) c.648C>A (p.Leu216=) | |
1 | g.63648611C= | CA1171578771 | PGM1 | c.1239C= (p.Leu413=) c.1293C= (p.Leu431=) c.648C= (p.Leu216=) | |
1 | g.63648611C>G | CA418197653 | PGM1 | c.1239C>G (p.Leu413=) c.1293C>G (p.Leu431=) c.648C>G (p.Leu216=) | |
1 | g.63648611C>T | CA418197654 | PGM1 | c.1239C>T (p.Leu413=) c.1293C>T (p.Leu431=) c.648C>T (p.Leu216=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648612A= | CA1171578772 | PGM1 | c.1240A= (p.Lys414=) c.1294A= (p.Lys432=) c.649A= (p.Lys217=) | |
1 | g.63648612A>C | CA340638391 | PGM1 | c.1240A>C (p.Lys414Gln) c.1294A>C (p.Lys432Gln) c.649A>C (p.Lys217Gln) | |
1 | g.63648612A>G | CA23833417 | PGM1 | c.1240A>G (p.Lys414Glu) c.1294A>G (p.Lys432Glu) c.649A>G (p.Lys217Glu) | dbSNP |
1 | g.63648612A>T | CA340638392 | PGM1 | c.1240A>T (p.Lys414Ter) c.1294A>T (p.Lys432Ter) c.649A>T (p.Lys217Ter) | |
1 | g.63648613A= | CA1171578773 | PGM1 | c.1241A= (p.Lys414=) c.1295A= (p.Lys432=) c.650A= (p.Lys217=) | |
1 | g.63648613A>C | CA340638393 | PGM1 | c.1241A>C (p.Lys414Thr) c.1295A>C (p.Lys432Thr) c.650A>C (p.Lys217Thr) | |
1 | g.63648613A>G | CA889774 | PGM1 | c.1241A>G (p.Lys414Arg) c.1295A>G (p.Lys432Arg) c.650A>G (p.Lys217Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63648613A>T | CA340638394 | PGM1 | c.1241A>T (p.Lys414Ile) c.1295A>T (p.Lys432Ile) c.650A>T (p.Lys217Ile) | |
1 | g.63648614A= | CA1171578774 | PGM1 | c.1242A= (p.Lys414=) c.1296A= (p.Lys432=) c.651A= (p.Lys217=) | |
1 | g.63648614A>C | CA340638395 | PGM1 | c.1242A>C (p.Lys414Asn) c.1296A>C (p.Lys432Asn) c.651A>C (p.Lys217Asn) | |
1 | g.63648614A>G | CA889775 | PGM1 | c.1242A>G (p.Lys414=) c.1296A>G (p.Lys432=) c.651A>G (p.Lys217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648614A>T | CA340638396 | PGM1 | c.1242A>T (p.Lys414Asn) c.1296A>T (p.Lys432Asn) c.651A>T (p.Lys217Asn) | |
1 | g.63648615G>A | CA889776 | PGM1 | c.1243G>A (p.Asp415Asn) c.1297G>A (p.Asp433Asn) c.652G>A (p.Asp218Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63648615G>C | CA340638397 | PGM1 | c.1243G>C (p.Asp415His) c.1297G>C (p.Asp433His) c.652G>C (p.Asp218His) | |
1 | g.63648615G= | CA1171578775 | PGM1 | c.1243G= (p.Asp415=) c.1297G= (p.Asp433=) c.652G= (p.Asp218=) | |
1 | g.63648615G>T | CA889777 | PGM1 | c.1243G>T (p.Asp415Tyr) c.1297G>T (p.Asp433Tyr) c.652G>T (p.Asp218Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648616A>C | CA340638398 | PGM1 | c.1244A>C (p.Asp415Ala) c.1298A>C (p.Asp433Ala) c.653A>C (p.Asp218Ala) | |
1 | g.63648616A>G | CA340638399 | PGM1 | c.1244A>G (p.Asp415Gly) c.1298A>G (p.Asp433Gly) c.653A>G (p.Asp218Gly) | gnomAD v4 |
1 | g.63648616A>T | CA340638400 | PGM1 | c.1244A>T (p.Asp415Val) c.1298A>T (p.Asp433Val) c.653A>T (p.Asp218Val) | |
1 | g.63648617T>A | CA340638401 | PGM1 | c.1245T>A (p.Asp415Glu) c.1299T>A (p.Asp433Glu) c.654T>A (p.Asp218Glu) | |
1 | g.63648617T>C | CA418197655 | PGM1 | c.1245T>C (p.Asp415=) c.1299T>C (p.Asp433=) c.654T>C (p.Asp218=) | |
1 | g.63648617T>G | CA340638402 | PGM1 | c.1245T>G (p.Asp415Glu) c.1299T>G (p.Asp433Glu) c.654T>G (p.Asp218Glu) | |
1 | g.63648618C>A | CA340638405 | PGM1 | c.1246C>A (p.His416Asn) c.1300C>A (p.His434Asn) c.655C>A (p.His219Asn) | gnomAD v4 |
1 | g.63648618C= | CA1171578776 | PGM1 | c.1246C= (p.His416=) c.1300C= (p.His434=) c.655C= (p.His219=) | |
1 | g.63648618C>G | CA340638403 | PGM1 | c.1246C>G (p.His416Asp) c.1300C>G (p.His434Asp) c.655C>G (p.His219Asp) | |
1 | g.63648618C>T | CA340638404 | PGM1 | c.1246C>T (p.His416Tyr) c.1300C>T (p.His434Tyr) c.655C>T (p.His219Tyr) | dbSNP |
1 | g.63648619A>C | CA340638406 | PGM1 | c.1247A>C (p.His416Pro) c.1301A>C (p.His434Pro) c.656A>C (p.His219Pro) | gnomAD v4 |
1 | g.63648619A>G | CA340638407 | PGM1 | c.1247A>G (p.His416Arg) c.1301A>G (p.His434Arg) c.656A>G (p.His219Arg) | |
1 | g.63648619A>T | CA340638408 | PGM1 | c.1247A>T (p.His416Leu) c.1301A>T (p.His434Leu) c.656A>T (p.His219Leu) | |
1 | g.63648620T>A | CA340638409 | PGM1 | c.1248T>A (p.His416Gln) c.1302T>A (p.His434Gln) c.657T>A (p.His219Gln) | |
1 | g.63648620T>C | CA889778 | PGM1 | c.1248T>C (p.His416=) c.1302T>C (p.His434=) c.657T>C (p.His219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648620T>G | CA340638410 | PGM1 | c.1248T>G (p.His416Gln) c.1302T>G (p.His434Gln) c.657T>G (p.His219Gln) | |
1 | g.63648620T= | CA1171578777 | PGM1 | c.1248T= (p.His416=) c.1302T= (p.His434=) c.657T= (p.His219=) | |
1 | g.63648621T>A | CA340638413 | PGM1 | c.1249T>A (p.Trp417Arg) c.1303T>A (p.Trp435Arg) c.658T>A (p.Trp220Arg) | |
1 | g.63648621T>C | CA340638412 | PGM1 | c.1249T>C (p.Trp417Arg) c.1303T>C (p.Trp435Arg) c.658T>C (p.Trp220Arg) | |
1 | g.63648621T>G | CA340638411 | PGM1 | c.1249T>G (p.Trp417Gly) c.1303T>G (p.Trp435Gly) c.658T>G (p.Trp220Gly) | |
1 | g.63648622G>A | CA340638415 | PGM1 | c.1250G>A (p.Trp417Ter) c.1304G>A (p.Trp435Ter) c.659G>A (p.Trp220Ter) | |
1 | g.63648622G>C | CA340638414 | PGM1 | c.1250G>C (p.Trp417Ser) c.1304G>C (p.Trp435Ser) c.659G>C (p.Trp220Ser) | |
1 | g.63648622G>T | CA340638416 | PGM1 | c.1250G>T (p.Trp417Leu) c.1304G>T (p.Trp435Leu) c.659G>T (p.Trp220Leu) | |
1 | g.63648623G>A | CA340638417 | PGM1 | c.1251G>A (p.Trp417Ter) c.1305G>A (p.Trp435Ter) c.660G>A (p.Trp220Ter) | gnomAD v4 |
1 | g.63648623G>C | CA340638419 | PGM1 | c.1251G>C (p.Trp417Cys) c.1305G>C (p.Trp435Cys) c.660G>C (p.Trp220Cys) | |
1 | g.63648623G>T | CA340638418 | PGM1 | c.1251G>T (p.Trp417Cys) c.1305G>T (p.Trp435Cys) c.660G>T (p.Trp220Cys) | |
1 | g.63648624C>A | CA340638420 | PGM1 | c.1252C>A (p.Gln418Lys) c.1306C>A (p.Gln436Lys) c.661C>A (p.Gln221Lys) | |
1 | g.63648624C>G | CA340638422 | PGM1 | c.1252C>G (p.Gln418Glu) c.1306C>G (p.Gln436Glu) c.661C>G (p.Gln221Glu) | |
1 | g.63648624C>T | CA340638421 | PGM1 | c.1252C>T (p.Gln418Ter) c.1306C>T (p.Gln436Ter) c.661C>T (p.Gln221Ter) | |
1 | g.63648625A>C | CA340638423 | PGM1 | c.1253A>C (p.Gln418Pro) c.1307A>C (p.Gln436Pro) c.662A>C (p.Gln221Pro) | |
1 | g.63648625A>G | CA340638424 | PGM1 | c.1253A>G (p.Gln418Arg) c.1307A>G (p.Gln436Arg) c.662A>G (p.Gln221Arg) | |
1 | g.63648625A>T | CA340638425 | PGM1 | c.1253A>T (p.Gln418Leu) c.1307A>T (p.Gln436Leu) c.662A>T (p.Gln221Leu) | |
1 | g.63648626A>C | CA340638426 | PGM1 | c.1254A>C (p.Gln418His) c.1308A>C (p.Gln436His) c.663A>C (p.Gln221His) | |
1 | g.63648626A>G | CA418197656 | PGM1 | c.1254A>G (p.Gln418=) c.1308A>G (p.Gln436=) c.663A>G (p.Gln221=) | ClinVar |
1 | g.63648626A>T | CA340638427 | PGM1 | c.1254A>T (p.Gln418His) c.1308A>T (p.Gln436His) c.663A>T (p.Gln221His) | |
1 | g.63648627A>C | CA340638428 | PGM1 | c.1255A>C (p.Lys419Gln) c.1309A>C (p.Lys437Gln) c.664A>C (p.Lys222Gln) | |
1 | g.63648627A>G | CA340638429 | PGM1 | c.1255A>G (p.Lys419Glu) c.1309A>G (p.Lys437Glu) c.664A>G (p.Lys222Glu) | |
1 | g.63648627A>T | CA340638430 | PGM1 | c.1255A>T (p.Lys419Ter) c.1309A>T (p.Lys437Ter) c.664A>T (p.Lys222Ter) | |
1 | g.63648628A>C | CA340638431 | PGM1 | c.1256A>C (p.Lys419Thr) c.1310A>C (p.Lys437Thr) c.665A>C (p.Lys222Thr) | gnomAD v4 |
1 | g.63648628A>G | CA340638432 | PGM1 | c.1256A>G (p.Lys419Arg) c.1310A>G (p.Lys437Arg) c.665A>G (p.Lys222Arg) | |
1 | g.63648628A>T | CA340638433 | PGM1 | c.1256A>T (p.Lys419Met) c.1310A>T (p.Lys437Met) c.665A>T (p.Lys222Met) | |
1 | g.63648629G>A | CA23833471 | PGM1 | c.1257G>A (p.Lys419=) c.1311G>A (p.Lys437=) c.666G>A (p.Lys222=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648629G>C | CA340638435 | PGM1 | c.1257G>C (p.Lys419Asn) c.1311G>C (p.Lys437Asn) c.666G>C (p.Lys222Asn) | |
1 | g.63648629G= | CA1143796821 | PGM1 | c.1257G= (p.Lys419=) c.1311G= (p.Lys437=) c.666G= (p.Lys222=) | |
1 | g.63648629G>T | CA340638434 | PGM1 | c.1257G>T (p.Lys419Asn) c.1311G>T (p.Lys437Asn) c.666G>T (p.Lys222Asn) | |
1 | g.63648630T>A | CA340638436 | PGM1 | c.1258T>A (p.Tyr420Asn) c.1312T>A (p.Tyr438Asn) c.667T>A (p.Tyr223Asn) | |
1 | g.63648630T>C | CA889779 | PGM1 | c.1258T>C (p.Tyr420His) c.1312T>C (p.Tyr438His) c.667T>C (p.Tyr223His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63648630T>G | CA340638437 | PGM1 | c.1258T>G (p.Tyr420Asp) c.1312T>G (p.Tyr438Asp) c.667T>G (p.Tyr223Asp) | |
1 | g.63648630T= | CA1140247782 | PGM1 | c.1258T= (p.Tyr420=) c.1312T= (p.Tyr438=) c.667T= (p.Tyr223=) |