| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.57565465G>A | CA511311007 | PCK1 | c.1530G>A (p.Lys510=) n.4172G>A c.1134G>A (p.Lys378=) | |
| 20 | g.57565465G>C | CA409437370 | PCK1 | c.1530G>C (p.Lys510Asn) n.4172G>C c.1134G>C (p.Lys378Asn) | |
| 20 | g.57565465G>T | CA409437371 | PCK1 | c.1530G>T (p.Lys510Asn) n.4172G>T c.1134G>T (p.Lys378Asn) | gnomAD v4 COSMIC |
| 20 | g.57565466A= | CA2371897582 | PCK1 | c.1531A= (p.Ile511=) n.4173A= c.1135A= (p.Ile379=) | |
| 20 | g.57565466A>C | CA409437372 | PCK1 | c.1531A>C (p.Ile511Leu) n.4173A>C c.1135A>C (p.Ile379Leu) | |
| 20 | g.57565466A>G | CA409437373 | PCK1 | c.1531A>G (p.Ile511Val) n.4173A>G c.1135A>G (p.Ile379Val) | dbSNP gnomAD v4 |
| 20 | g.57565466A>T | CA316282239 | PCK1 | c.1531A>T (p.Ile511Phe) n.4173A>T c.1135A>T (p.Ile379Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565467T>A | CA409437374 | PCK1 | c.1532T>A (p.Ile511Asn) n.4174T>A c.1136T>A (p.Ile379Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565467T>C | CA409437375 | PCK1 | c.1532T>C (p.Ile511Thr) n.4174T>C c.1136T>C (p.Ile379Thr) | |
| 20 | g.57565467T>G | CA409437376 | PCK1 | c.1532T>G (p.Ile511Ser) n.4174T>G c.1136T>G (p.Ile379Ser) | |
| 20 | g.57565467T= | CA2371897583 | PCK1 | c.1532T= (p.Ile511=) n.4174T= c.1136T= (p.Ile379=) | |
| 20 | g.57565468C>A | CA511311008 | PCK1 | c.1533C>A (p.Ile511=) n.4175C>A c.1137C>A (p.Ile379=) | |
| 20 | g.57565468C= | CA2371897584 | PCK1 | c.1533C= (p.Ile511=) n.4175C= c.1137C= (p.Ile379=) | |
| 20 | g.57565468C>G | CA409437377 | PCK1 | c.1533C>G (p.Ile511Met) n.4175C>G c.1137C>G (p.Ile379Met) | |
| 20 | g.57565468C>T | CA511311009 | PCK1 | c.1533C>T (p.Ile511=) n.4175C>T c.1137C>T (p.Ile379=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.57565469T>A | CA409437378 | PCK1 | c.1534T>A (p.Phe512Ile) n.4176T>A c.1138T>A (p.Phe380Ile) | |
| 20 | g.57565469T>C | CA409437379 | PCK1 | c.1534T>C (p.Phe512Leu) n.4176T>C c.1138T>C (p.Phe380Leu) | |
| 20 | g.57565469T>G | CA409437380 | PCK1 | c.1534T>G (p.Phe512Val) n.4176T>G c.1138T>G (p.Phe380Val) | |
| 20 | g.57565470T>A | CA409437382 | PCK1 | c.1535T>A (p.Phe512Tyr) n.4177T>A c.1139T>A (p.Phe380Tyr) | |
| 20 | g.57565470T>C | CA409437383 | PCK1 | c.1535T>C (p.Phe512Ser) n.4177T>C c.1139T>C (p.Phe380Ser) | dbSNP gnomAD v2 |
| 20 | g.57565470T>G | CA409437381 | PCK1 | c.1535T>G (p.Phe512Cys) n.4177T>G c.1139T>G (p.Phe380Cys) | gnomAD v4 |
| 20 | g.57565470T= | CA2371897585 | PCK1 | c.1535T= (p.Phe512=) n.4177T= c.1139T= (p.Phe380=) | |
| 20 | g.57565471C>A | CA409437385 | PCK1 | c.1536C>A (p.Phe512Leu) n.4178C>A c.1140C>A (p.Phe380Leu) | dbSNP |
| 20 | g.57565471C= | CA2371897586 | PCK1 | c.1536C= (p.Phe512=) n.4178C= c.1140C= (p.Phe380=) | |
| 20 | g.57565471C>G | CA409437384 | PCK1 | c.1536C>G (p.Phe512Leu) n.4178C>G c.1140C>G (p.Phe380Leu) | |
| 20 | g.57565471C>T | CA511311010 | PCK1 | c.1536C>T (p.Phe512=) n.4178C>T c.1140C>T (p.Phe380=) | dbSNP gnomAD v4 |
| 20 | g.57565472C>A | CA409437386 | PCK1 | c.1537C>A (p.His513Asn) n.4179C>A c.1141C>A (p.His381Asn) | dbSNP |
| 20 | g.57565472C= | CA2371897587 | PCK1 | c.1537C= (p.His513=) n.4179C= c.1141C= (p.His381=) | |
| 20 | g.57565472C>G | CA409437387 | PCK1 | c.1537C>G (p.His513Asp) n.4179C>G c.1141C>G (p.His381Asp) | |
| 20 | g.57565472C>T | CA10602380 | PCK1 | c.1537C>T (p.His513Tyr) n.4179C>T c.1141C>T (p.His381Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.57565473A>C | CA409437388 | PCK1 | c.1538A>C (p.His513Pro) n.4180A>C c.1142A>C (p.His381Pro) | |
| 20 | g.57565473A>G | CA409437389 | PCK1 | c.1538A>G (p.His513Arg) n.4180A>G c.1142A>G (p.His381Arg) | |
| 20 | g.57565473A>T | CA409437390 | PCK1 | c.1538A>T (p.His513Leu) n.4180A>T c.1142A>T (p.His381Leu) | |
| 20 | g.57565474T>A | CA409437391 | PCK1 | c.1539T>A (p.His513Gln) n.4181T>A c.1143T>A (p.His381Gln) | |
| 20 | g.57565474T>C | CA511311011 | PCK1 | c.1539T>C (p.His513=) n.4181T>C c.1143T>C (p.His381=) | dbSNP gnomAD v4 |
| 20 | g.57565474T>G | CA9922418 | PCK1 | c.1539T>G (p.His513Gln) n.4181T>G c.1143T>G (p.His381Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565474T= | CA2371897588 | PCK1 | c.1539T= (p.His513=) n.4181T= c.1143T= (p.His381=) | |
| 20 | g.57565475G>A | CA409437392 | PCK1 | c.1540G>A (p.Val514Ile) n.4182G>A c.1144G>A (p.Val382Ile) | |
| 20 | g.57565475G>C | CA409437393 | PCK1 | c.1540G>C (p.Val514Leu) n.4182G>C c.1144G>C (p.Val382Leu) | |
| 20 | g.57565475G>T | CA409437394 | PCK1 | c.1540G>T (p.Val514Phe) n.4182G>T c.1144G>T (p.Val382Phe) | |
| 20 | g.57565475_57565478dup | CA2653461896 | PCK1 | c.1540_1543dup (p.Asn515SerfsTer?) n.4182_4185dup c.1144_1147dup (p.Asn383SerfsTer?) | gnomAD v4 |
| 20 | g.57565476T>A | CA409437397 | PCK1 | c.1541T>A (p.Val514Asp) n.4183T>A c.1145T>A (p.Val382Asp) | |
| 20 | g.57565476T>C | CA409437395 | PCK1 | c.1541T>C (p.Val514Ala) n.4183T>C c.1145T>C (p.Val382Ala) | dbSNP |
| 20 | g.57565476T>G | CA409437396 | PCK1 | c.1541T>G (p.Val514Gly) n.4183T>G c.1145T>G (p.Val382Gly) | |
| 20 | g.57565477C>A | CA511311012 | PCK1 | c.1542C>A (p.Val514=) n.4184C>A c.1146C>A (p.Val382=) | |
| 20 | g.57565477C>G | CA511311013 | PCK1 | c.1542C>G (p.Val514=) n.4184C>G c.1146C>G (p.Val382=) | |
| 20 | g.57565477C>T | CA511311014 | PCK1 | c.1542C>T (p.Val514=) n.4184C>T c.1146C>T (p.Val382=) | |
| 20 | g.57565478A= | CA2371897589 | PCK1 | c.1543A= (p.Asn515=) n.4185A= c.1147A= (p.Asn383=) | |
| 20 | g.57565478A>C | CA409437398 | PCK1 | c.1543A>C (p.Asn515His) n.4185A>C c.1147A>C (p.Asn383His) | gnomAD v4 |
| 20 | g.57565478A>G | CA409437399 | PCK1 | c.1543A>G (p.Asn515Asp) n.4185A>G c.1147A>G (p.Asn383Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565478A>T | CA409437400 | PCK1 | c.1543A>T (p.Asn515Tyr) n.4185A>T c.1147A>T (p.Asn383Tyr) | |
| 20 | g.57565479A= | CA2371897590 | PCK1 | c.1544A= (p.Asn515=) n.4186A= c.1148A= (p.Asn383=) | |
| 20 | g.57565479A>C | CA9922419 | PCK1 | c.1544A>C (p.Asn515Thr) n.4186A>C c.1148A>C (p.Asn383Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565479A>G | CA409437401 | PCK1 | c.1544A>G (p.Asn515Ser) n.4186A>G c.1148A>G (p.Asn383Ser) | |
| 20 | g.57565479A>T | CA409437402 | PCK1 | c.1544A>T (p.Asn515Ile) n.4186A>T c.1148A>T (p.Asn383Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565480C>A | CA409437403 | PCK1 | c.1545C>A (p.Asn515Lys) n.4187C>A c.1149C>A (p.Asn383Lys) | |
| 20 | g.57565480C>G | CA409437404 | PCK1 | c.1545C>G (p.Asn515Lys) n.4187C>G c.1149C>G (p.Asn383Lys) | |
| 20 | g.57565480C>T | CA511311015 | PCK1 | c.1545C>T (p.Asn515=) n.4187C>T c.1149C>T (p.Asn383=) | |
| 20 | g.57565481T>A | CA409437405 | PCK1 | c.1546T>A (p.Trp516Arg) n.4188T>A c.1150T>A (p.Trp384Arg) | gnomAD v4 |
| 20 | g.57565481T>C | CA409437406 | PCK1 | c.1546T>C (p.Trp516Arg) n.4188T>C c.1150T>C (p.Trp384Arg) | |
| 20 | g.57565481T>G | CA409437407 | PCK1 | c.1546T>G (p.Trp516Gly) n.4188T>G c.1150T>G (p.Trp384Gly) | |
| 20 | g.57565482G>A | CA409437409 | PCK1 | c.1547G>A (p.Trp516Ter) n.4189G>A c.1151G>A (p.Trp384Ter) | dbSNP |
| 20 | g.57565482G>C | CA409437410 | PCK1 | c.1547G>C (p.Trp516Ser) n.4189G>C c.1151G>C (p.Trp384Ser) | |
| 20 | g.57565482G= | CA2371897591 | PCK1 | c.1547G= (p.Trp516=) n.4189G= c.1151G= (p.Trp384=) | |
| 20 | g.57565482G>T | CA409437408 | PCK1 | c.1547G>T (p.Trp516Leu) n.4189G>T c.1151G>T (p.Trp384Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565483G>A | CA409437411 | PCK1 | c.1548G>A (p.Trp516Ter) n.4190G>A c.1152G>A (p.Trp384Ter) | dbSNP |
| 20 | g.57565483G>C | CA409437412 | PCK1 | c.1548G>C (p.Trp516Cys) n.4190G>C c.1152G>C (p.Trp384Cys) | gnomAD v4 |
| 20 | g.57565483G>T | CA409437413 | PCK1 | c.1548G>T (p.Trp516Cys) n.4190G>T c.1152G>T (p.Trp384Cys) | |
| 20 | g.57565484T>A | CA409437414 | PCK1 | c.1549T>A (p.Phe517Ile) n.4191T>A c.1153T>A (p.Phe385Ile) | |
| 20 | g.57565484T>C | CA409437415 | PCK1 | c.1549T>C (p.Phe517Leu) n.4191T>C c.1153T>C (p.Phe385Leu) | |
| 20 | g.57565484T>G | CA409437416 | PCK1 | c.1549T>G (p.Phe517Val) n.4191T>G c.1153T>G (p.Phe385Val) | |
| 20 | g.57565485T>A | CA409437417 | PCK1 | c.1550T>A (p.Phe517Tyr) n.4192T>A c.1154T>A (p.Phe385Tyr) | dbSNP |
| 20 | g.57565485T>C | CA409437418 | PCK1 | c.1550T>C (p.Phe517Ser) n.4192T>C c.1154T>C (p.Phe385Ser) | |
| 20 | g.57565485T>G | CA409437419 | PCK1 | c.1550T>G (p.Phe517Cys) n.4192T>G c.1154T>G (p.Phe385Cys) | |
| 20 | g.57565486C>A | CA409437420 | PCK1 | c.1551C>A (p.Phe517Leu) n.4193C>A c.1155C>A (p.Phe385Leu) | |
| 20 | g.57565486C>G | CA409437421 | PCK1 | c.1551C>G (p.Phe517Leu) n.4193C>G c.1155C>G (p.Phe385Leu) | dbSNP |
| 20 | g.57565486C>T | CA511311016 | PCK1 | c.1551C>T (p.Phe517=) n.4193C>T c.1155C>T (p.Phe385=) | dbSNP |
| 20 | g.57565487C>A | CA511311017 | PCK1 | c.1552C>A (p.Arg518=) n.4194C>A c.1156C>A (p.Arg386=) | |
| 20 | g.57565487C= | CA2371897592 | PCK1 | c.1552C= (p.Arg518=) n.4194C= c.1156C= (p.Arg386=) | |
| 20 | g.57565487C>G | CA409437422 | PCK1 | c.1552C>G (p.Arg518Gly) n.4194C>G c.1156C>G (p.Arg386Gly) | dbSNP |
| 20 | g.57565487C>T | CA9922420 | PCK1 | c.1552C>T (p.Arg518Trp) n.4194C>T c.1156C>T (p.Arg386Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565488G>A | CA9922421 | PCK1 | c.1553G>A (p.Arg518Gln) n.4195G>A c.1157G>A (p.Arg386Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565488G>C | CA409437424 | PCK1 | c.1553G>C (p.Arg518Pro) n.4195G>C c.1157G>C (p.Arg386Pro) | |
| 20 | g.57565488G= | CA2371897593 | PCK1 | c.1553G= (p.Arg518=) n.4195G= c.1157G= (p.Arg386=) | |
| 20 | g.57565488G>T | CA409437423 | PCK1 | c.1553G>T (p.Arg518Leu) n.4195G>T c.1157G>T (p.Arg386Leu) | |
| 20 | g.57565489G>A | CA511311020 | PCK1 | c.1554G>A (p.Arg518=) n.4196G>A c.1158G>A (p.Arg386=) | |
| 20 | g.57565489G>C | CA511311019 | PCK1 | c.1554G>C (p.Arg518=) n.4196G>C c.1158G>C (p.Arg386=) | dbSNP |
| 20 | g.57565489G>T | CA511311018 | PCK1 | c.1554G>T (p.Arg518=) n.4196G>T c.1158G>T (p.Arg386=) | COSMIC |
| 20 | g.57565490A>C | CA409437425 | PCK1 | c.1555A>C (p.Lys519Gln) n.4197A>C c.1159A>C (p.Lys387Gln) | |
| 20 | g.57565490A>G | CA409437426 | PCK1 | c.1555A>G (p.Lys519Glu) n.4197A>G c.1159A>G (p.Lys387Glu) | |
| 20 | g.57565490A>T | CA409437427 | PCK1 | c.1555A>T (p.Lys519Ter) n.4197A>T c.1159A>T (p.Lys387Ter) | |
| 20 | g.57565491A>C | CA409437428 | PCK1 | c.1556A>C (p.Lys519Thr) n.4198A>C c.1160A>C (p.Lys387Thr) | |
| 20 | g.57565491A>G | CA409437429 | PCK1 | c.1556A>G (p.Lys519Arg) n.4198A>G c.1160A>G (p.Lys387Arg) | |
| 20 | g.57565491A>T | CA409437430 | PCK1 | c.1556A>T (p.Lys519Met) n.4198A>T c.1160A>T (p.Lys387Met) | |
| 20 | g.57565492G>A | CA511311021 | PCK1 | c.1557G>A (p.Lys519=) n.4199G>A c.1161G>A (p.Lys387=) | dbSNP COSMIC |
| 20 | g.57565492G>C | CA409437431 | PCK1 | c.1557G>C (p.Lys519Asn) n.4199G>C c.1161G>C (p.Lys387Asn) | |
| 20 | g.57565492G>T | CA409437432 | PCK1 | c.1557G>T (p.Lys519Asn) n.4199G>T c.1161G>T (p.Lys387Asn) | |
| 20 | g.57565493G>A | CA409437433 | PCK1 | c.1558G>A (p.Asp520Asn) n.4200G>A c.1162G>A (p.Asp388Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565493G>C | CA409437434 | PCK1 | c.1558G>C (p.Asp520His) n.4200G>C c.1162G>C (p.Asp388His) | |
| 20 | g.57565493G= | CA2371897594 | PCK1 | c.1558G= (p.Asp520=) n.4200G= c.1162G= (p.Asp388=) | |
| 20 | g.57565493G>T | CA409437435 | PCK1 | c.1558G>T (p.Asp520Tyr) n.4200G>T c.1162G>T (p.Asp388Tyr) | |
| 20 | g.57565494A= | CA2371897595 | PCK1 | c.1559A= (p.Asp520=) n.4201A= c.1163A= (p.Asp388=) | |
| 20 | g.57565494A>C | CA409437436 | PCK1 | c.1559A>C (p.Asp520Ala) n.4201A>C c.1163A>C (p.Asp388Ala) | dbSNP |
| 20 | g.57565494A>G | CA409437437 | PCK1 | c.1559A>G (p.Asp520Gly) n.4201A>G c.1163A>G (p.Asp388Gly) | |
| 20 | g.57565494A>T | CA409437438 | PCK1 | c.1559A>T (p.Asp520Val) n.4201A>T c.1163A>T (p.Asp388Val) | |
| 20 | g.57565495C>A | CA409437440 | PCK1 | c.1560C>A (p.Asp520Glu) n.4202C>A c.1164C>A (p.Asp388Glu) | |
| 20 | g.57565495C= | CA2371897596 | PCK1 | c.1560C= (p.Asp520=) n.4202C= c.1164C= (p.Asp388=) | |
| 20 | g.57565495C>G | CA409437439 | PCK1 | c.1560C>G (p.Asp520Glu) n.4202C>G c.1164C>G (p.Asp388Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565495C>T | CA511311022 | PCK1 | c.1560C>T (p.Asp520=) n.4202C>T c.1164C>T (p.Asp388=) | |
| 20 | g.57565496A= | CA2371897597 | PCK1 | c.1561A= (p.Lys521=) n.4203A= c.1165A= (p.Lys389=) | |
| 20 | g.57565496A>C | CA409437441 | PCK1 | c.1561A>C (p.Lys521Gln) n.4203A>C c.1165A>C (p.Lys389Gln) | |
| 20 | g.57565496A>G | CA409437443 | PCK1 | c.1561A>G (p.Lys521Glu) n.4203A>G c.1165A>G (p.Lys389Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565496A>T | CA409437442 | PCK1 | c.1561A>T (p.Lys521Ter) n.4203A>T c.1165A>T (p.Lys389Ter) | |
| 20 | g.57565497A>C | CA409437444 | PCK1 | c.1562A>C (p.Lys521Thr) n.4204A>C c.1166A>C (p.Lys389Thr) | |
| 20 | g.57565497A>G | CA409437446 | PCK1 | c.1562A>G (p.Lys521Arg) n.4204A>G c.1166A>G (p.Lys389Arg) | gnomAD v4 |
| 20 | g.57565497A>T | CA409437445 | PCK1 | c.1562A>T (p.Lys521Met) n.4204A>T c.1166A>T (p.Lys389Met) | |
| 20 | g.57565498G>A | CA9922422 | PCK1 | c.1563G>A (p.Lys521=) n.4205G>A c.1167G>A (p.Lys389=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565498G>C | CA409437447 | PCK1 | c.1563G>C (p.Lys521Asn) n.4205G>C c.1167G>C (p.Lys389Asn) | |
| 20 | g.57565498G= | CA2371897598 | PCK1 | c.1563G= (p.Lys521=) n.4205G= c.1167G= (p.Lys389=) | |
| 20 | g.57565498G>T | CA409437448 | PCK1 | c.1563G>T (p.Lys521Asn) n.4205G>T c.1167G>T (p.Lys389Asn) | |
| 20 | g.57565499G>A | CA409437449 | PCK1 | c.1564G>A (p.Glu522Lys) n.4206G>A c.1168G>A (p.Glu390Lys) | dbSNP |
| 20 | g.57565499G>C | CA409437450 | PCK1 | c.1564G>C (p.Glu522Gln) n.4206G>C c.1168G>C (p.Glu390Gln) | dbSNP |
| 20 | g.57565499G>T | CA409437451 | PCK1 | c.1564G>T (p.Glu522Ter) n.4206G>T c.1168G>T (p.Glu390Ter) | |
| 20 | g.57565500A= | CA2371897599 | PCK1 | c.1565A= (p.Glu522=) n.4207A= c.1169A= (p.Glu390=) | |
| 20 | g.57565500A>C | CA409437452 | PCK1 | c.1565A>C (p.Glu522Ala) n.4207A>C c.1169A>C (p.Glu390Ala) | |
| 20 | g.57565500A>G | CA409437453 | PCK1 | c.1565A>G (p.Glu522Gly) n.4207A>G c.1169A>G (p.Glu390Gly) | |
| 20 | g.57565500A>T | CA409437454 | PCK1 | c.1565A>T (p.Glu522Val) n.4207A>T c.1169A>T (p.Glu390Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565501A= | CA2371897600 | PCK1 | c.1566A= (p.Glu522=) n.4208A= c.1170A= (p.Glu390=) | |
| 20 | g.57565501A>C | CA409437455 | PCK1 | c.1566A>C (p.Glu522Asp) n.4208A>C c.1170A>C (p.Glu390Asp) | |
| 20 | g.57565501A>G | CA316282264 | PCK1 | c.1566A>G (p.Glu522=) n.4208A>G c.1170A>G (p.Glu390=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565501A>T | CA409437456 | PCK1 | c.1566A>T (p.Glu522Asp) n.4208A>T c.1170A>T (p.Glu390Asp) | dbSNP |
| 20 | g.57565502G>A | CA409437459 | PCK1 | c.1567G>A (p.Gly523Ser) n.4209G>A c.1171G>A (p.Gly391Ser) | |
| 20 | g.57565502G>C | CA409437457 | PCK1 | c.1567G>C (p.Gly523Arg) n.4209G>C c.1171G>C (p.Gly391Arg) | |
| 20 | g.57565502G>T | CA409437458 | PCK1 | c.1567G>T (p.Gly523Cys) n.4209G>T c.1171G>T (p.Gly391Cys) | |
| 20 | g.57565503G>A | CA409437460 | PCK1 | c.1568G>A (p.Gly523Asp) n.4210G>A c.1172G>A (p.Gly391Asp) | dbSNP |
| 20 | g.57565503G>C | CA409437461 | PCK1 | c.1568G>C (p.Gly523Ala) n.4210G>C c.1172G>C (p.Gly391Ala) | |
| 20 | g.57565503G>T | CA409437462 | PCK1 | c.1568G>T (p.Gly523Val) n.4210G>T c.1172G>T (p.Gly391Val) | |
| 20 | g.57565504C>A | CA9922423 | PCK1 | c.1569C>A (p.Gly523=) n.4211C>A c.1173C>A (p.Gly391=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565504C= | CA2371897601 | PCK1 | c.1569C= (p.Gly523=) n.4211C= c.1173C= (p.Gly391=) | |
| 20 | g.57565504C>G | CA511311023 | PCK1 | c.1569C>G (p.Gly523=) n.4211C>G c.1173C>G (p.Gly391=) | dbSNP |
| 20 | g.57565504C>T | CA511311024 | PCK1 | c.1569C>T (p.Gly523=) n.4211C>T c.1173C>T (p.Gly391=) | |
| 20 | g.57565505A>C | CA409437463 | PCK1 | c.1570A>C (p.Lys524Gln) n.4212A>C c.1174A>C (p.Lys392Gln) | |
| 20 | g.57565505A>G | CA409437464 | PCK1 | c.1570A>G (p.Lys524Glu) n.4212A>G c.1174A>G (p.Lys392Glu) | |
| 20 | g.57565505A>T | CA409437465 | PCK1 | c.1570A>T (p.Lys524Ter) n.4212A>T c.1174A>T (p.Lys392Ter) | |
| 20 | g.57565506A>C | CA409437466 | PCK1 | c.1571A>C (p.Lys524Thr) n.4213A>C c.1175A>C (p.Lys392Thr) | |
| 20 | g.57565506A>G | CA409437467 | PCK1 | c.1571A>G (p.Lys524Arg) n.4213A>G c.1175A>G (p.Lys392Arg) | gnomAD v4 |
| 20 | g.57565506A>T | CA409437468 | PCK1 | c.1571A>T (p.Lys524Ile) n.4213A>T c.1175A>T (p.Lys392Ile) | |
| 20 | g.57565507A= | CA2371897602 | PCK1 | c.1572A= (p.Lys524=) n.4214A= c.1176A= (p.Lys392=) | |
| 20 | g.57565507A>C | CA409437470 | PCK1 | c.1572A>C (p.Lys524Asn) n.4214A>C c.1176A>C (p.Lys392Asn) | |
| 20 | g.57565507A>G | CA9922424 | PCK1 | c.1572A>G (p.Lys524=) n.4214A>G c.1176A>G (p.Lys392=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565507A>T | CA409437469 | PCK1 | c.1572A>T (p.Lys524Asn) n.4214A>T c.1176A>T (p.Lys392Asn) | |
| 20 | g.57565508T>A | CA409437471 | PCK1 | c.1573T>A (p.Phe525Ile) n.4215T>A c.1177T>A (p.Phe393Ile) | dbSNP |
| 20 | g.57565508T>C | CA409437472 | PCK1 | c.1573T>C (p.Phe525Leu) n.4215T>C c.1177T>C (p.Phe393Leu) | |
| 20 | g.57565508T>G | CA409437473 | PCK1 | c.1573T>G (p.Phe525Val) n.4215T>G c.1177T>G (p.Phe393Val) | |
| 20 | g.57565509T>A | CA409437474 | PCK1 | c.1574T>A (p.Phe525Tyr) n.4216T>A c.1178T>A (p.Phe393Tyr) | dbSNP |
| 20 | g.57565509T>C | CA316282273 | PCK1 | c.1574T>C (p.Phe525Ser) n.4216T>C c.1178T>C (p.Phe393Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565509T>G | CA409437475 | PCK1 | c.1574T>G (p.Phe525Cys) n.4216T>G c.1178T>G (p.Phe393Cys) | |
| 20 | g.57565509T= | CA2371897603 | PCK1 | c.1574T= (p.Phe525=) n.4216T= c.1178T= (p.Phe393=) | |
| 20 | g.57565510C>A | CA409437477 | PCK1 | c.1575C>A (p.Phe525Leu) n.4217C>A c.1179C>A (p.Phe393Leu) | |
| 20 | g.57565510C>G | CA409437476 | PCK1 | c.1575C>G (p.Phe525Leu) n.4217C>G c.1179C>G (p.Phe393Leu) | dbSNP gnomAD v4 |
| 20 | g.57565510C>T | CA511311025 | PCK1 | c.1575C>T (p.Phe525=) n.4217C>T c.1179C>T (p.Phe393=) | gnomAD v4 COSMIC |
| 20 | g.57565511C>A | CA409437478 | PCK1 | c.1576C>A (p.Leu526Ile) n.4218C>A c.1180C>A (p.Leu394Ile) | |
| 20 | g.57565511C= | CA2371897604 | PCK1 | c.1576C= (p.Leu526=) n.4218C= c.1180C= (p.Leu394=) | |
| 20 | g.57565511C>G | CA409437479 | PCK1 | c.1576C>G (p.Leu526Val) n.4218C>G c.1180C>G (p.Leu394Val) | |
| 20 | g.57565511C>T | CA9922425 | PCK1 | c.1576C>T (p.Leu526Phe) n.4218C>T c.1180C>T (p.Leu394Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565512T>A | CA409437480 | PCK1 | c.1577T>A (p.Leu526His) n.4219T>A c.1181T>A (p.Leu394His) | |
| 20 | g.57565512T>C | CA409437481 | PCK1 | c.1577T>C (p.Leu526Pro) n.4219T>C c.1181T>C (p.Leu394Pro) | |
| 20 | g.57565512T>G | CA409437482 | PCK1 | c.1577T>G (p.Leu526Arg) n.4219T>G c.1181T>G (p.Leu394Arg) | |
| 20 | g.57565513C>A | CA511311028 | PCK1 | c.1578C>A (p.Leu526=) n.4220C>A c.1182C>A (p.Leu394=) | |
| 20 | g.57565513C>G | CA511311026 | PCK1 | c.1578C>G (p.Leu526=) n.4220C>G c.1182C>G (p.Leu394=) | |
| 20 | g.57565513C>T | CA511311027 | PCK1 | c.1578C>T (p.Leu526=) n.4220C>T c.1182C>T (p.Leu394=) | dbSNP gnomAD v4 |
| 20 | g.57565514T>A | CA409437483 | PCK1 | c.1579T>A (p.Trp527Arg) n.4221T>A c.1183T>A (p.Trp395Arg) | |
| 20 | g.57565514T>C | CA409437485 | PCK1 | c.1579T>C (p.Trp527Arg) n.4221T>C c.1183T>C (p.Trp395Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565514T>G | CA409437484 | PCK1 | c.1579T>G (p.Trp527Gly) n.4221T>G c.1183T>G (p.Trp395Gly) | |
| 20 | g.57565514T= | CA2371897605 | PCK1 | c.1579T= (p.Trp527=) n.4221T= c.1183T= (p.Trp395=) | |
| 20 | g.57565515G>A | CA409437486 | PCK1 | c.1580G>A (p.Trp527Ter) n.4222G>A c.1184G>A (p.Trp395Ter) | |
| 20 | g.57565515G>C | CA409437487 | PCK1 | c.1580G>C (p.Trp527Ser) n.4222G>C c.1184G>C (p.Trp395Ser) | ClinVar |
| 20 | g.57565515G>T | CA409437488 | PCK1 | c.1580G>T (p.Trp527Leu) n.4222G>T c.1184G>T (p.Trp395Leu) | |
| 20 | g.57565516G>A | CA409437489 | PCK1 | c.1581G>A (p.Trp527Ter) n.4223G>A c.1185G>A (p.Trp395Ter) | |
| 20 | g.57565516G>C | CA409437490 | PCK1 | c.1581G>C (p.Trp527Cys) n.4223G>C c.1185G>C (p.Trp395Cys) | |
| 20 | g.57565516G>T | CA409437491 | PCK1 | c.1581G>T (p.Trp527Cys) n.4223G>T c.1185G>T (p.Trp395Cys) | |
| 20 | g.57565517C>A | CA409437492 | PCK1 | c.1582C>A (p.Pro528Thr) n.4224C>A c.1186C>A (p.Pro396Thr) | dbSNP |
| 20 | g.57565517C>G | CA409437493 | PCK1 | c.1582C>G (p.Pro528Ala) n.4224C>G c.1186C>G (p.Pro396Ala) | |
| 20 | g.57565517C>T | CA409437494 | PCK1 | c.1582C>T (p.Pro528Ser) n.4224C>T c.1186C>T (p.Pro396Ser) | |
| 20 | g.57565518C>A | CA409437495 | PCK1 | c.1583C>A (p.Pro528Gln) n.4225C>A c.1187C>A (p.Pro396Gln) | |
| 20 | g.57565518C= | CA2371897606 | PCK1 | c.1583C= (p.Pro528=) n.4225C= c.1187C= (p.Pro396=) | |
| 20 | g.57565518C>G | CA409437496 | PCK1 | c.1583C>G (p.Pro528Arg) n.4225C>G c.1187C>G (p.Pro396Arg) | |
| 20 | g.57565518C>T | CA9922426 | PCK1 | c.1583C>T (p.Pro528Leu) n.4225C>T c.1187C>T (p.Pro396Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565519A= | CA2371897607 | PCK1 | c.1584A= (p.Pro528=) n.4226A= c.1188A= (p.Pro396=) | |
| 20 | g.57565519A>C | CA511311030 | PCK1 | c.1584A>C (p.Pro528=) n.4226A>C c.1188A>C (p.Pro396=) | |
| 20 | g.57565519A>G | CA9922427 | PCK1 | c.1584A>G (p.Pro528=) n.4226A>G c.1188A>G (p.Pro396=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565519A>T | CA511311029 | PCK1 | c.1584A>T (p.Pro528=) n.4226A>T c.1188A>T (p.Pro396=) | |
| 20 | g.57565520G>A | CA409437498 | PCK1 | c.1585G>A (p.Gly529Ser) n.4227G>A c.1189G>A (p.Gly397Ser) | |
| 20 | g.57565520G>C | CA409437497 | PCK1 | c.1585G>C (p.Gly529Arg) n.4227G>C c.1189G>C (p.Gly397Arg) | |
| 20 | g.57565520G>T | CA409437499 | PCK1 | c.1585G>T (p.Gly529Cys) n.4227G>T c.1189G>T (p.Gly397Cys) | COSMIC |
| 20 | g.57565521G>A | CA409437500 | PCK1 | c.1586G>A (p.Gly529Asp) n.4228G>A c.1190G>A (p.Gly397Asp) | |
| 20 | g.57565521G>C | CA409437501 | PCK1 | c.1586G>C (p.Gly529Ala) n.4228G>C c.1190G>C (p.Gly397Ala) | dbSNP |
| 20 | g.57565521G= | CA2371897608 | PCK1 | c.1586G= (p.Gly529=) n.4228G= c.1190G= (p.Gly397=) | |
| 20 | g.57565521G>T | CA409437502 | PCK1 | c.1586G>T (p.Gly529Val) n.4228G>T c.1190G>T (p.Gly397Val) | dbSNP COSMIC |
| 20 | g.57565522C>A | CA511311031 | PCK1 | c.1587C>A (p.Gly529=) n.4229C>A c.1191C>A (p.Gly397=) | |
| 20 | g.57565522C>G | CA511311032 | PCK1 | c.1587C>G (p.Gly529=) n.4229C>G c.1191C>G (p.Gly397=) | |
| 20 | g.57565522C>T | CA511311033 | PCK1 | c.1587C>T (p.Gly529=) n.4229C>T c.1191C>T (p.Gly397=) | |
| 20 | g.57565523T>A | CA409437503 | PCK1 | c.1588T>A (p.Phe530Ile) n.4230T>A c.1192T>A (p.Phe398Ile) | |
| 20 | g.57565523T>C | CA409437504 | PCK1 | c.1588T>C (p.Phe530Leu) n.4230T>C c.1192T>C (p.Phe398Leu) | |
| 20 | g.57565523T>G | CA409437505 | PCK1 | c.1588T>G (p.Phe530Val) n.4230T>G c.1192T>G (p.Phe398Val) | |
| 20 | g.57565524T>A | CA409437506 | PCK1 | c.1589T>A (p.Phe530Tyr) n.4231T>A c.1193T>A (p.Phe398Tyr) | |
| 20 | g.57565524T>C | CA409437507 | PCK1 | c.1589T>C (p.Phe530Ser) n.4231T>C c.1193T>C (p.Phe398Ser) | |
| 20 | g.57565524T>G | CA409437508 | PCK1 | c.1589T>G (p.Phe530Cys) n.4231T>G c.1193T>G (p.Phe398Cys) | |
| 20 | g.57565525T>A | CA9922428 | PCK1 | c.1590T>A (p.Phe530Leu) n.4232T>A c.1194T>A (p.Phe398Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565525T>C | CA316282298 | PCK1 | c.1590T>C (p.Phe530=) n.4232T>C c.1194T>C (p.Phe398=) | dbSNP |
| 20 | g.57565525T>G | CA409437509 | PCK1 | c.1590T>G (p.Phe530Leu) n.4232T>G c.1194T>G (p.Phe398Leu) | |
| 20 | g.57565525T= | CA2371897609 | PCK1 | c.1590T= (p.Phe530=) n.4232T= c.1194T= (p.Phe398=) | |
| 20 | g.57565526G>A | CA409437512 | PCK1 | c.1591G>A (p.Gly531Arg) n.4233G>A c.1195G>A (p.Gly399Arg) | |
| 20 | g.57565526G>C | CA409437510 | PCK1 | c.1591G>C (p.Gly531Arg) n.4233G>C c.1195G>C (p.Gly399Arg) | |
| 20 | g.57565526G>T | CA409437511 | PCK1 | c.1591G>T (p.Gly531Ter) n.4233G>T c.1195G>T (p.Gly399Ter) | |
| 20 | g.57565527_57565531del | CA2653461897 | PCK1 | c.1592_1596del (p.Gly531GlufsTer?) n.4234_4238del c.1196_1200del (p.Gly399GlufsTer?) | gnomAD v4 |
| 20 | g.57565527G>A | CA9922429 | PCK1 | c.1592G>A (p.Gly531Glu) n.4234G>A c.1196G>A (p.Gly399Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565527G>C | CA409437513 | PCK1 | c.1592G>C (p.Gly531Ala) n.4234G>C c.1196G>C (p.Gly399Ala) | |
| 20 | g.57565527G= | CA2371897610 | PCK1 | c.1592G= (p.Gly531=) n.4234G= c.1196G= (p.Gly399=) | |
| 20 | g.57565527G>T | CA409437514 | PCK1 | c.1592G>T (p.Gly531Val) n.4234G>T c.1196G>T (p.Gly399Val) | |
| 20 | g.57565528A= | CA2371897611 | PCK1 | c.1593A= (p.Gly531=) n.4235A= c.1197A= (p.Gly399=) | |
| 20 | g.57565528A>C | CA511311034 | PCK1 | c.1593A>C (p.Gly531=) n.4235A>C c.1197A>C (p.Gly399=) | dbSNP |
| 20 | g.57565528A>G | CA511311035 | PCK1 | c.1593A>G (p.Gly531=) n.4235A>G c.1197A>G (p.Gly399=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565528A>T | CA511311036 | PCK1 | c.1593A>T (p.Gly531=) n.4235A>T c.1197A>T (p.Gly399=) | |
| 20 | g.57565529G>A | CA409437515 | PCK1 | c.1594G>A (p.Glu532Lys) n.4236G>A c.1198G>A (p.Glu400Lys) | dbSNP |
| 20 | g.57565529G>C | CA409437516 | PCK1 | c.1594G>C (p.Glu532Gln) n.4236G>C c.1198G>C (p.Glu400Gln) | |
| 20 | g.57565529G= | CA2371897612 | PCK1 | c.1594G= (p.Glu532=) n.4236G= c.1198G= (p.Glu400=) | |
| 20 | g.57565529G>T | CA409437517 | PCK1 | c.1594G>T (p.Glu532Ter) n.4236G>T c.1198G>T (p.Glu400Ter) | |
| 20 | g.57565530A>C | CA409437518 | PCK1 | c.1595A>C (p.Glu532Ala) n.4237A>C c.1199A>C (p.Glu400Ala) | |
| 20 | g.57565530A>G | CA409437519 | PCK1 | c.1595A>G (p.Glu532Gly) n.4237A>G c.1199A>G (p.Glu400Gly) | |
| 20 | g.57565530A>T | CA409437520 | PCK1 | c.1595A>T (p.Glu532Val) n.4237A>T c.1199A>T (p.Glu400Val) | |
| 20 | g.57565531G>A | CA511311037 | PCK1 | c.1596G>A (p.Glu532=) n.4238G>A c.1200G>A (p.Glu400=) | dbSNP |
| 20 | g.57565531G>C | CA409437521 | PCK1 | c.1596G>C (p.Glu532Asp) n.4238G>C c.1200G>C (p.Glu400Asp) | |
| 20 | g.57565531G= | CA2371897613 | PCK1 | c.1596G= (p.Glu532=) n.4238G= c.1200G= (p.Glu400=) | |
| 20 | g.57565531G>T | CA316282312 | PCK1 | c.1596G>T (p.Glu532Asp) n.4238G>T c.1200G>T (p.Glu400Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565532A>C | CA409437523 | PCK1 | c.1597A>C (p.Asn533His) n.4239A>C c.1201A>C (p.Asn401His) | |
| 20 | g.57565532A>G | CA409437524 | PCK1 | c.1597A>G (p.Asn533Asp) n.4239A>G c.1201A>G (p.Asn401Asp) | |
| 20 | g.57565532A>T | CA409437522 | PCK1 | c.1597A>T (p.Asn533Tyr) n.4239A>T c.1201A>T (p.Asn401Tyr) | |
| 20 | g.57565533A>C | CA409437525 | PCK1 | c.1598A>C (p.Asn533Thr) n.4240A>C c.1202A>C (p.Asn401Thr) | |
| 20 | g.57565533A>G | CA409437526 | PCK1 | c.1598A>G (p.Asn533Ser) n.4240A>G c.1202A>G (p.Asn401Ser) | |
| 20 | g.57565533A>T | CA409437527 | PCK1 | c.1598A>T (p.Asn533Ile) n.4240A>T c.1202A>T (p.Asn401Ile) | |
| 20 | g.57565534C>A | CA409437528 | PCK1 | c.1599C>A (p.Asn533Lys) n.4241C>A c.1203C>A (p.Asn401Lys) | dbSNP |
| 20 | g.57565534C>G | CA409437529 | PCK1 | c.1599C>G (p.Asn533Lys) n.4241C>G c.1203C>G (p.Asn401Lys) | |
| 20 | g.57565534C>T | CA511311038 | PCK1 | c.1599C>T (p.Asn533=) n.4241C>T c.1203C>T (p.Asn401=) | dbSNP |
| 20 | g.57565535T>A | CA409437530 | PCK1 | c.1600T>A (p.Ser534Thr) n.4242T>A c.1204T>A (p.Ser402Thr) | |
| 20 | g.57565535T>C | CA409437531 | PCK1 | c.1600T>C (p.Ser534Pro) n.4242T>C c.1204T>C (p.Ser402Pro) | |
| 20 | g.57565535T>G | CA409437532 | PCK1 | c.1600T>G (p.Ser534Ala) n.4242T>G c.1204T>G (p.Ser402Ala) | |
| 20 | g.57565536C>A | CA409437533 | PCK1 | c.1601C>A (p.Ser534Tyr) n.4243C>A c.1205C>A (p.Ser402Tyr) | |
| 20 | g.57565536C>G | CA409437534 | PCK1 | c.1601C>G (p.Ser534Cys) n.4243C>G c.1205C>G (p.Ser402Cys) | dbSNP |
| 20 | g.57565536C>T | CA409437535 | PCK1 | c.1601C>T (p.Ser534Phe) n.4243C>T c.1205C>T (p.Ser402Phe) | |
| 20 | g.57565537C>A | CA511311039 | PCK1 | c.1602C>A (p.Ser534=) n.4244C>A c.1206C>A (p.Ser402=) | |
| 20 | g.57565537C>G | CA511311040 | PCK1 | c.1602C>G (p.Ser534=) n.4244C>G c.1206C>G (p.Ser402=) | |
| 20 | g.57565537C>T | CA511311041 | PCK1 | c.1602C>T (p.Ser534=) n.4244C>T c.1206C>T (p.Ser402=) | gnomAD v4 |
| 20 | g.57565538A= | CA2371897614 | PCK1 | c.1603A= (p.Arg535=) n.4245A= c.1207A= (p.Arg403=) | |
| 20 | g.57565538A>C | CA511311042 | PCK1 | c.1603A>C (p.Arg535=) n.4245A>C c.1207A>C (p.Arg403=) | dbSNP |
| 20 | g.57565538A>G | CA409437536 | PCK1 | c.1603A>G (p.Arg535Gly) n.4245A>G c.1207A>G (p.Arg403Gly) | dbSNP |
| 20 | g.57565538A>T | CA409437537 | PCK1 | c.1603A>T (p.Arg535Trp) n.4245A>T c.1207A>T (p.Arg403Trp) | |
| 20 | g.57565539G>A | CA409437540 | PCK1 | c.1604G>A (p.Arg535Lys) n.4246G>A c.1208G>A (p.Arg403Lys) | |
| 20 | g.57565539G>C | CA409437539 | PCK1 | c.1604G>C (p.Arg535Thr) n.4246G>C c.1208G>C (p.Arg403Thr) | |
| 20 | g.57565539G>T | CA409437538 | PCK1 | c.1604G>T (p.Arg535Met) n.4246G>T c.1208G>T (p.Arg403Met) | |
| 20 | g.57565540G>A | CA511311043 | PCK1 | c.1605G>A (p.Arg535=) n.4247G>A c.1209G>A (p.Arg403=) | |
| 20 | g.57565540G>C | CA409437541 | PCK1 | c.1605G>C (p.Arg535Ser) n.4247G>C c.1209G>C (p.Arg403Ser) | |
| 20 | g.57565540G>T | CA409437542 | PCK1 | c.1605G>T (p.Arg535Ser) n.4247G>T c.1209G>T (p.Arg403Ser) | |
| 20 | g.57565541G>A | CA409437543 | PCK1 | c.1606G>A (p.Val536Met) n.4248G>A c.1210G>A (p.Val404Met) | |
| 20 | g.57565541G>C | CA409437544 | PCK1 | c.1606G>C (p.Val536Leu) n.4248G>C c.1210G>C (p.Val404Leu) | dbSNP gnomAD v4 |
| 20 | g.57565541G= | CA2371897615 | PCK1 | c.1606G= (p.Val536=) n.4248G= c.1210G= (p.Val404=) | |
| 20 | g.57565541G>T | CA409437545 | PCK1 | c.1606G>T (p.Val536Leu) n.4248G>T c.1210G>T (p.Val404Leu) | |
| 20 | g.57565542T>A | CA409437546 | PCK1 | c.1607T>A (p.Val536Glu) n.4249T>A c.1211T>A (p.Val404Glu) | |
| 20 | g.57565542T>C | CA409437547 | PCK1 | c.1607T>C (p.Val536Ala) n.4249T>C c.1211T>C (p.Val404Ala) | |
| 20 | g.57565542T>G | CA409437548 | PCK1 | c.1607T>G (p.Val536Gly) n.4249T>G c.1211T>G (p.Val404Gly) | |
| 20 | g.57565543G>A | CA511311044 | PCK1 | c.1608G>A (p.Val536=) n.4250G>A c.1212G>A (p.Val404=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565543G>C | CA511311045 | PCK1 | c.1608G>C (p.Val536=) n.4250G>C c.1212G>C (p.Val404=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565543G= | CA2371897616 | PCK1 | c.1608G= (p.Val536=) n.4250G= c.1212G= (p.Val404=) | |
| 20 | g.57565543G>T | CA511311046 | PCK1 | c.1608G>T (p.Val536=) n.4250G>T c.1212G>T (p.Val404=) | |
| 20 | g.57565544C>A | CA409437549 | PCK1 | c.1609C>A (p.Leu537Met) n.4251C>A c.1213C>A (p.Leu405Met) | gnomAD v4 |
| 20 | g.57565544C>G | CA409437550 | PCK1 | c.1609C>G (p.Leu537Val) n.4251C>G c.1213C>G (p.Leu405Val) | |
| 20 | g.57565544C>T | CA511311047 | PCK1 | c.1609C>T (p.Leu537=) n.4251C>T c.1213C>T (p.Leu405=) | dbSNP |
| 20 | g.57565545T>A | CA409437551 | PCK1 | c.1610T>A (p.Leu537Gln) n.4252T>A c.1214T>A (p.Leu405Gln) | |
| 20 | g.57565545T>C | CA409437552 | PCK1 | c.1610T>C (p.Leu537Pro) n.4252T>C c.1214T>C (p.Leu405Pro) | |
| 20 | g.57565545T>G | CA409437553 | PCK1 | c.1610T>G (p.Leu537Arg) n.4252T>G c.1214T>G (p.Leu405Arg) | |
| 20 | g.57565546G>A | CA511311048 | PCK1 | c.1611G>A (p.Leu537=) n.4253G>A c.1215G>A (p.Leu405=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565546G>C | CA511311049 | PCK1 | c.1611G>C (p.Leu537=) n.4253G>C c.1215G>C (p.Leu405=) | |
| 20 | g.57565546G= | CA2371897617 | PCK1 | c.1611G= (p.Leu537=) n.4253G= c.1215G= (p.Leu405=) | |
| 20 | g.57565546G>T | CA511311050 | PCK1 | c.1611G>T (p.Leu537=) n.4253G>T c.1215G>T (p.Leu405=) | dbSNP gnomAD v4 |
| 20 | g.57565547G>A | CA409437556 | PCK1 | c.1612G>A (p.Glu538Lys) n.4254G>A c.1216G>A (p.Glu406Lys) | dbSNP |
| 20 | g.57565547G>C | CA409437555 | PCK1 | c.1612G>C (p.Glu538Gln) n.4254G>C c.1216G>C (p.Glu406Gln) | dbSNP |
| 20 | g.57565547G= | CA2371897618 | PCK1 | c.1612G= (p.Glu538=) n.4254G= c.1216G= (p.Glu406=) | |
| 20 | g.57565547G>T | CA409437554 | PCK1 | c.1612G>T (p.Glu538Ter) n.4254G>T c.1216G>T (p.Glu406Ter) | |
| 20 | g.57565548A>C | CA409437557 | PCK1 | c.1613A>C (p.Glu538Ala) n.4255A>C c.1217A>C (p.Glu406Ala) | |
| 20 | g.57565548A>G | CA409437559 | PCK1 | c.1613A>G (p.Glu538Gly) n.4255A>G c.1217A>G (p.Glu406Gly) | |
| 20 | g.57565548A>T | CA409437558 | PCK1 | c.1613A>T (p.Glu538Val) n.4255A>T c.1217A>T (p.Glu406Val) | |
| 20 | g.57565549G>A | CA511311051 | PCK1 | c.1614G>A (p.Glu538=) n.4256G>A c.1218G>A (p.Glu406=) | |
| 20 | g.57565549G>C | CA409437560 | PCK1 | c.1614G>C (p.Glu538Asp) n.4256G>C c.1218G>C (p.Glu406Asp) | dbSNP |
| 20 | g.57565549G= | CA2371897619 | PCK1 | c.1614G= (p.Glu538=) n.4256G= c.1218G= (p.Glu406=) | |
| 20 | g.57565549G>T | CA409437561 | PCK1 | c.1614G>T (p.Glu538Asp) n.4256G>T c.1218G>T (p.Glu406Asp) | |
| 20 | g.57565550T>A | CA409437562 | PCK1 | c.1615T>A (p.Trp539Arg) n.4257T>A c.1219T>A (p.Trp407Arg) | |
| 20 | g.57565550T>C | CA409437564 | PCK1 | c.1615T>C (p.Trp539Arg) n.4257T>C c.1219T>C (p.Trp407Arg) | |
| 20 | g.57565550T>G | CA409437563 | PCK1 | c.1615T>G (p.Trp539Gly) n.4257T>G c.1219T>G (p.Trp407Gly) | |
| 20 | g.57565551G>A | CA409437565 | PCK1 | c.1616G>A (p.Trp539Ter) n.4258G>A c.1220G>A (p.Trp407Ter) | |
| 20 | g.57565551G>C | CA409437567 | PCK1 | c.1616G>C (p.Trp539Ser) n.4258G>C c.1220G>C (p.Trp407Ser) | |
| 20 | g.57565551G>T | CA409437566 | PCK1 | c.1616G>T (p.Trp539Leu) n.4258G>T c.1220G>T (p.Trp407Leu) | |
| 20 | g.57565552G>A | CA409437568 | PCK1 | c.1617G>A (p.Trp539Ter) n.4259G>A c.1221G>A (p.Trp407Ter) | |
| 20 | g.57565552G>C | CA409437569 | PCK1 | c.1617G>C (p.Trp539Cys) n.4259G>C c.1221G>C (p.Trp407Cys) | |
| 20 | g.57565552G>T | CA409437570 | PCK1 | c.1617G>T (p.Trp539Cys) n.4259G>T c.1221G>T (p.Trp407Cys) | |
| 20 | g.57565552_57565553delinsGA | CA2371897620 | PCK1 | c.1617_1618delinsGA (p.Trp539=) n.4259_4260delinsGA c.1221_1222delinsGA (p.Trp407=) | |
| 20 | g.57565556_57565571del | CA2653461900 | PCK1 | c.1621_1636del (p.Phe541GlufsTer10) n.4263_4278del c.1225_1240del (p.Phe409GlufsTer10) | gnomAD v4 |
| 20 | g.57565553del | CA745891471 | PCK1 | c.1618del (p.Met540CysfsTer16) n.4260del c.1222del (p.Met408CysfsTer16) | dbSNP |
| 20 | g.57565553A= | CA2371897621 | PCK1 | c.1618A= (p.Met540=) n.4260A= c.1222A= (p.Met408=) | |
| 20 | g.57565553A>C | CA409437571 | PCK1 | c.1618A>C (p.Met540Leu) n.4260A>C c.1222A>C (p.Met408Leu) | |
| 20 | g.57565553A>G | CA9922430 | PCK1 | c.1618A>G (p.Met540Val) n.4260A>G c.1222A>G (p.Met408Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565553A>T | CA409437572 | PCK1 | c.1618A>T (p.Met540Leu) n.4260A>T c.1222A>T (p.Met408Leu) | |
| 20 | g.57565554T>A | CA409437573 | PCK1 | c.1619T>A (p.Met540Lys) n.4261T>A c.1223T>A (p.Met408Lys) | |
| 20 | g.57565554T>C | CA409437574 | PCK1 | c.1619T>C (p.Met540Thr) n.4261T>C c.1223T>C (p.Met408Thr) | |
| 20 | g.57565554T>G | CA409437575 | PCK1 | c.1619T>G (p.Met540Arg) n.4261T>G c.1223T>G (p.Met408Arg) | |
| 20 | g.57565555G>A | CA409437576 | PCK1 | c.1620G>A (p.Met540Ile) n.4262G>A c.1224G>A (p.Met408Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565555G>C | CA409437577 | PCK1 | c.1620G>C (p.Met540Ile) n.4262G>C c.1224G>C (p.Met408Ile) | |
| 20 | g.57565555G= | CA2371897622 | PCK1 | c.1620G= (p.Met540=) n.4262G= c.1224G= (p.Met408=) | |
| 20 | g.57565555G>T | CA409437578 | PCK1 | c.1620G>T (p.Met540Ile) n.4262G>T c.1224G>T (p.Met408Ile) | |
| 20 | g.57565556T>A | CA409437581 | PCK1 | c.1621T>A (p.Phe541Ile) n.4263T>A c.1225T>A (p.Phe409Ile) | |
| 20 | g.57565556T>C | CA409437580 | PCK1 | c.1621T>C (p.Phe541Leu) n.4263T>C c.1225T>C (p.Phe409Leu) | |
| 20 | g.57565556T>G | CA409437579 | PCK1 | c.1621T>G (p.Phe541Val) n.4263T>G c.1225T>G (p.Phe409Val) | |
| 20 | g.57565557T>A | CA409437582 | PCK1 | c.1622T>A (p.Phe541Tyr) n.4264T>A c.1226T>A (p.Phe409Tyr) | |
| 20 | g.57565557T>C | CA409437583 | PCK1 | c.1622T>C (p.Phe541Ser) n.4264T>C c.1226T>C (p.Phe409Ser) | |
| 20 | g.57565557T>G | CA409437584 | PCK1 | c.1622T>G (p.Phe541Cys) n.4264T>G c.1226T>G (p.Phe409Cys) | |
| 20 | g.57565558C>A | CA409437585 | PCK1 | c.1623C>A (p.Phe541Leu) n.4265C>A c.1227C>A (p.Phe409Leu) | |
| 20 | g.57565558C>G | CA409437586 | PCK1 | c.1623C>G (p.Phe541Leu) n.4265C>G c.1227C>G (p.Phe409Leu) | dbSNP |
| 20 | g.57565558C>T | CA511311052 | PCK1 | c.1623C>T (p.Phe541=) n.4265C>T c.1227C>T (p.Phe409=) | |
| 20 | g.57565559A= | CA2371897623 | PCK1 | c.1624A= (p.Asn542=) n.4266A= c.1228A= (p.Asn410=) | |
| 20 | g.57565559A>C | CA409437587 | PCK1 | c.1624A>C (p.Asn542His) n.4266A>C c.1228A>C (p.Asn410His) | |
| 20 | g.57565559A>G | CA409437588 | PCK1 | c.1624A>G (p.Asn542Asp) n.4266A>G c.1228A>G (p.Asn410Asp) | dbSNP |
| 20 | g.57565559A>T | CA409437589 | PCK1 | c.1624A>T (p.Asn542Tyr) n.4266A>T c.1228A>T (p.Asn410Tyr) | |
| 20 | g.57565560A= | CA2371897624 | PCK1 | c.1625A= (p.Asn542=) n.4267A= c.1229A= (p.Asn410=) | |
| 20 | g.57565560A>C | CA409437590 | PCK1 | c.1625A>C (p.Asn542Thr) n.4267A>C c.1229A>C (p.Asn410Thr) | |
| 20 | g.57565560A>G | CA9922431 | PCK1 | c.1625A>G (p.Asn542Ser) n.4267A>G c.1229A>G (p.Asn410Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565560A>T | CA409437591 | PCK1 | c.1625A>T (p.Asn542Ile) n.4267A>T c.1229A>T (p.Asn410Ile) | |
| 20 | g.57565561C>A | CA409437592 | PCK1 | c.1626C>A (p.Asn542Lys) n.4268C>A c.1230C>A (p.Asn410Lys) | dbSNP COSMIC |
| 20 | g.57565561C= | CA2371897625 | PCK1 | c.1626C= (p.Asn542=) n.4268C= c.1230C= (p.Asn410=) | |
| 20 | g.57565561C>G | CA316282335 | PCK1 | c.1626C>G (p.Asn542Lys) n.4268C>G c.1230C>G (p.Asn410Lys) | dbSNP |
| 20 | g.57565561C>T | CA511311053 | PCK1 | c.1626C>T (p.Asn542=) n.4268C>T c.1230C>T (p.Asn410=) | |
| 20 | g.57565562C>A | CA511311054 | PCK1 | c.1627C>A (p.Arg543=) n.4269C>A c.1231C>A (p.Arg411=) | dbSNP |
| 20 | g.57565562C= | CA2371897626 | PCK1 | c.1627C= (p.Arg543=) n.4269C= c.1231C= (p.Arg411=) | |
| 20 | g.57565562C>G | CA409437593 | PCK1 | c.1627C>G (p.Arg543Gly) n.4269C>G c.1231C>G (p.Arg411Gly) | |
| 20 | g.57565562C>T | CA9922432 | PCK1 | c.1627C>T (p.Arg543Trp) n.4269C>T c.1231C>T (p.Arg411Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.57565563G>A | CA9922433 | PCK1 | c.1628G>A (p.Arg543Gln) n.4270G>A c.1232G>A (p.Arg411Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565563G>C | CA409437595 | PCK1 | c.1628G>C (p.Arg543Pro) n.4270G>C c.1232G>C (p.Arg411Pro) | |
| 20 | g.57565563G= | CA2371897627 | PCK1 | c.1628G= (p.Arg543=) n.4270G= c.1232G= (p.Arg411=) | |
| 20 | g.57565563G>T | CA409437594 | PCK1 | c.1628G>T (p.Arg543Leu) n.4270G>T c.1232G>T (p.Arg411Leu) | dbSNP gnomAD v4 |
| 20 | g.57565564G>A | CA511311057 | PCK1 | c.1629G>A (p.Arg543=) n.4271G>A c.1233G>A (p.Arg411=) | dbSNP |
| 20 | g.57565564G>C | CA511311056 | PCK1 | c.1629G>C (p.Arg543=) n.4271G>C c.1233G>C (p.Arg411=) | dbSNP gnomAD v4 |
| 20 | g.57565564G= | CA2371897628 | PCK1 | c.1629G= (p.Arg543=) n.4271G= c.1233G= (p.Arg411=) | |
| 20 | g.57565564G>T | CA511311055 | PCK1 | c.1629G>T (p.Arg543=) n.4271G>T c.1233G>T (p.Arg411=) | |
| 20 | g.57565565A= | CA2371897629 | PCK1 | c.1630A= (p.Ile544=) n.4272A= c.1234A= (p.Ile412=) | |
| 20 | g.57565565A>C | CA409437596 | PCK1 | c.1630A>C (p.Ile544Leu) n.4272A>C c.1234A>C (p.Ile412Leu) | |
| 20 | g.57565565A>G | CA409437597 | PCK1 | c.1630A>G (p.Ile544Val) n.4272A>G c.1234A>G (p.Ile412Val) | |
| 20 | g.57565565A>T | CA409437598 | PCK1 | c.1630A>T (p.Ile544Phe) n.4272A>T c.1234A>T (p.Ile412Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |