Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
20 | g.57565566T>A | CA409437599 | PCK1 | c.1631T>A (p.Ile544Asn) n.4273T>A c.1235T>A (p.Ile412Asn) | dbSNP gnomAD v4 |
20 | g.57565566T>C | CA409437600 | PCK1 | c.1631T>C (p.Ile544Thr) n.4273T>C c.1235T>C (p.Ile412Thr) | |
20 | g.57565566T>G | CA409437601 | PCK1 | c.1631T>G (p.Ile544Ser) n.4273T>G c.1235T>G (p.Ile412Ser) | |
20 | g.57565566T= | CA2371897630 | PCK1 | c.1631T= (p.Ile544=) n.4273T= c.1235T= (p.Ile412=) | |
20 | g.57565567C>A | CA511311058 | PCK1 | c.1632C>A (p.Ile544=) n.4274C>A c.1236C>A (p.Ile412=) | |
20 | g.57565567C= | CA2371897631 | PCK1 | c.1632C= (p.Ile544=) n.4274C= c.1236C= (p.Ile412=) | |
20 | g.57565567C>G | CA409437602 | PCK1 | c.1632C>G (p.Ile544Met) n.4274C>G c.1236C>G (p.Ile412Met) | |
20 | g.57565567C>T | CA9922434 | PCK1 | c.1632C>T (p.Ile544=) n.4274C>T c.1236C>T (p.Ile412=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57565568G>A | CA9922435 | PCK1 | c.1633G>A (p.Asp545Asn) n.4275G>A c.1237G>A (p.Asp413Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.57565568G>C | CA409437603 | PCK1 | c.1633G>C (p.Asp545His) n.4275G>C c.1237G>C (p.Asp413His) | |
20 | g.57565568G= | CA2371897632 | PCK1 | c.1633G= (p.Asp545=) n.4275G= c.1237G= (p.Asp413=) | |
20 | g.57565568G>T | CA409437604 | PCK1 | c.1633G>T (p.Asp545Tyr) n.4275G>T c.1237G>T (p.Asp413Tyr) | dbSNP |
20 | g.57565569A>C | CA409437607 | PCK1 | c.1634A>C (p.Asp545Ala) n.4276A>C c.1238A>C (p.Asp413Ala) | |
20 | g.57565569A>G | CA409437606 | PCK1 | c.1634A>G (p.Asp545Gly) n.4276A>G c.1238A>G (p.Asp413Gly) | |
20 | g.57565569A>T | CA409437605 | PCK1 | c.1634A>T (p.Asp545Val) n.4276A>T c.1238A>T (p.Asp413Val) | |
20 | g.57565570T>A | CA409437608 | PCK1 | c.1635T>A (p.Asp545Glu) n.4277T>A c.1239T>A (p.Asp413Glu) | dbSNP |
20 | g.57565570T>C | CA9922436 | PCK1 | c.1635T>C (p.Asp545=) n.4277T>C c.1239T>C (p.Asp413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57565570T>G | CA409437609 | PCK1 | c.1635T>G (p.Asp545Glu) n.4277T>G c.1239T>G (p.Asp413Glu) | dbSNP gnomAD v4 |
20 | g.57565570T= | CA2371897633 | PCK1 | c.1635T= (p.Asp545=) n.4277T= c.1239T= (p.Asp413=) | |
20 | g.57565571G>A | CA409437610 | PCK1 | c.1636G>A (p.Gly546Arg) n.4278G>A c.1240G>A (p.Gly414Arg) | COSMIC |
20 | g.57565571G>C | CA409437611 | PCK1 | c.1636G>C (p.Gly546Arg) n.4278G>C c.1240G>C (p.Gly414Arg) | |
20 | g.57565571G>T | CA409437612 | PCK1 | c.1636G>T (p.Gly546Ter) n.4278G>T c.1240G>T (p.Gly414Ter) | |
20 | g.57565572G>A | CA409437613 | PCK1 | c.1637G>A (p.Gly546Glu) n.4279G>A c.1241G>A (p.Gly414Glu) | dbSNP |
20 | g.57565572G>C | CA9922437 | PCK1 | c.1637G>C (p.Gly546Ala) n.4279G>C c.1241G>C (p.Gly414Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565572G= | CA2371897634 | PCK1 | c.1637G= (p.Gly546=) n.4279G= c.1241G= (p.Gly414=) | |
20 | g.57565572G>T | CA409437614 | PCK1 | c.1637G>T (p.Gly546Val) n.4279G>T c.1241G>T (p.Gly414Val) | |
20 | g.57565573A= | CA2371897635 | PCK1 | c.1638A= (p.Gly546=) n.4280A= c.1242A= (p.Gly414=) | |
20 | g.57565573A>C | CA511311059 | PCK1 | c.1638A>C (p.Gly546=) n.4280A>C c.1242A>C (p.Gly414=) | |
20 | g.57565573A>G | CA511311060 | PCK1 | c.1638A>G (p.Gly546=) n.4280A>G c.1242A>G (p.Gly414=) | dbSNP |
20 | g.57565573A>T | CA511311061 | PCK1 | c.1638A>T (p.Gly546=) n.4280A>T c.1242A>T (p.Gly414=) | |
20 | g.57565576del | CA2737099134 | PCK1 | c.1641del (p.Ala548ProfsTer8) n.4283del c.1245del (p.Ala416ProfsTer8) | dbSNP |
20 | g.57565574A= | CA2371897636 | PCK1 | c.1639A= (p.Lys547=) n.4281A= c.1243A= (p.Lys415=) | |
20 | g.57565574A>C | CA409437615 | PCK1 | c.1639A>C (p.Lys547Gln) n.4281A>C c.1243A>C (p.Lys415Gln) | |
20 | g.57565574A>G | CA409437616 | PCK1 | c.1639A>G (p.Lys547Glu) n.4281A>G c.1243A>G (p.Lys415Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565574A>T | CA409437617 | PCK1 | c.1639A>T (p.Lys547Ter) n.4281A>T c.1243A>T (p.Lys415Ter) | |
20 | g.57565575A>C | CA409437620 | PCK1 | c.1640A>C (p.Lys547Thr) n.4282A>C c.1244A>C (p.Lys415Thr) | |
20 | g.57565575A>G | CA409437618 | PCK1 | c.1640A>G (p.Lys547Arg) n.4282A>G c.1244A>G (p.Lys415Arg) | |
20 | g.57565575A>T | CA409437619 | PCK1 | c.1640A>T (p.Lys547Ile) n.4282A>T c.1244A>T (p.Lys415Ile) | |
20 | g.57565576A>C | CA409437621 | PCK1 | c.1641A>C (p.Lys547Asn) n.4283A>C c.1245A>C (p.Lys415Asn) | |
20 | g.57565576A>G | CA511311062 | PCK1 | c.1641A>G (p.Lys547=) n.4283A>G c.1245A>G (p.Lys415=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57565576A>T | CA409437622 | PCK1 | c.1641A>T (p.Lys547Asn) n.4283A>T c.1245A>T (p.Lys415Asn) | |
20 | g.57565577G>A | CA9922438 | PCK1 | c.1642G>A (p.Ala548Thr) n.4284G>A c.1246G>A (p.Ala416Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565577G>C | CA409437623 | PCK1 | c.1642G>C (p.Ala548Pro) n.4284G>C c.1246G>C (p.Ala416Pro) | |
20 | g.57565577G= | CA2371897637 | PCK1 | c.1642G= (p.Ala548=) n.4284G= c.1246G= (p.Ala416=) | |
20 | g.57565577G>T | CA409437624 | PCK1 | c.1642G>T (p.Ala548Ser) n.4284G>T c.1246G>T (p.Ala416Ser) | |
20 | g.57565578C>A | CA409437625 | PCK1 | c.1643C>A (p.Ala548Asp) n.4285C>A c.1247C>A (p.Ala416Asp) | dbSNP |
20 | g.57565578C= | CA2371897638 | PCK1 | c.1643C= (p.Ala548=) n.4285C= c.1247C= (p.Ala416=) | |
20 | g.57565578C>G | CA409437626 | PCK1 | c.1643C>G (p.Ala548Gly) n.4285C>G c.1247C>G (p.Ala416Gly) | |
20 | g.57565578C>T | CA409437627 | PCK1 | c.1643C>T (p.Ala548Val) n.4285C>T c.1247C>T (p.Ala416Val) | |
20 | g.57565579C>A | CA511311063 | PCK1 | c.1644C>A (p.Ala548=) n.4286C>A c.1248C>A (p.Ala416=) | |
20 | g.57565579C= | CA2371897639 | PCK1 | c.1644C= (p.Ala548=) n.4286C= c.1248C= (p.Ala416=) | |
20 | g.57565579C>G | CA9922439 | PCK1 | c.1644C>G (p.Ala548=) n.4286C>G c.1248C>G (p.Ala416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565579C>T | CA511311064 | PCK1 | c.1644C>T (p.Ala548=) n.4286C>T c.1248C>T (p.Ala416=) | |
20 | g.57565580A>C | CA409437628 | PCK1 | c.1645A>C (p.Ser549Arg) n.4287A>C c.1249A>C (p.Ser417Arg) | |
20 | g.57565580A>G | CA409437629 | PCK1 | c.1645A>G (p.Ser549Gly) n.4287A>G c.1249A>G (p.Ser417Gly) | gnomAD v4 |
20 | g.57565580A>T | CA409437630 | PCK1 | c.1645A>T (p.Ser549Cys) n.4287A>T c.1249A>T (p.Ser417Cys) | |
20 | g.57565581G>A | CA409437631 | PCK1 | c.1646G>A (p.Ser549Asn) n.4288G>A c.1250G>A (p.Ser417Asn) | dbSNP |
20 | g.57565581G>C | CA409437632 | PCK1 | c.1646G>C (p.Ser549Thr) n.4288G>C c.1250G>C (p.Ser417Thr) | |
20 | g.57565581G>T | CA409437633 | PCK1 | c.1646G>T (p.Ser549Ile) n.4288G>T c.1250G>T (p.Ser417Ile) | |
20 | g.57565582C>A | CA409437634 | PCK1 | c.1647C>A (p.Ser549Arg) n.4289C>A c.1251C>A (p.Ser417Arg) | dbSNP |
20 | g.57565582C>G | CA409437635 | PCK1 | c.1647C>G (p.Ser549Arg) n.4289C>G c.1251C>G (p.Ser417Arg) | |
20 | g.57565582C>T | CA511311065 | PCK1 | c.1647C>T (p.Ser549=) n.4289C>T c.1251C>T (p.Ser417=) | |
20 | g.57565583A= | CA2371897640 | PCK1 | c.1648A= (p.Thr550=) n.4290A= c.1252A= (p.Thr418=) | |
20 | g.57565583A>C | CA409437636 | PCK1 | c.1648A>C (p.Thr550Pro) n.4290A>C c.1252A>C (p.Thr418Pro) | |
20 | g.57565583A>G | CA316282372 | PCK1 | c.1648A>G (p.Thr550Ala) n.4290A>G c.1252A>G (p.Thr418Ala) | dbSNP gnomAD v4 |
20 | g.57565583A>T | CA409437637 | PCK1 | c.1648A>T (p.Thr550Ser) n.4290A>T c.1252A>T (p.Thr418Ser) | |
20 | g.57565584C>A | CA409437638 | PCK1 | c.1649C>A (p.Thr550Asn) n.4291C>A c.1253C>A (p.Thr418Asn) | |
20 | g.57565584C= | CA2371897641 | PCK1 | c.1649C= (p.Thr550=) n.4291C= c.1253C= (p.Thr418=) | |
20 | g.57565584C>G | CA409437639 | PCK1 | c.1649C>G (p.Thr550Ser) n.4291C>G c.1253C>G (p.Thr418Ser) | |
20 | g.57565584C>T | CA9922440 | PCK1 | c.1649C>T (p.Thr550Ile) n.4291C>T c.1253C>T (p.Thr418Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565585C>A | CA511311066 | PCK1 | c.1650C>A (p.Thr550=) n.4292C>A c.1254C>A (p.Thr418=) | dbSNP |
20 | g.57565585C>G | CA511311067 | PCK1 | c.1650C>G (p.Thr550=) n.4292C>G c.1254C>G (p.Thr418=) | |
20 | g.57565585C>T | CA511311068 | PCK1 | c.1650C>T (p.Thr550=) n.4292C>T c.1254C>T (p.Thr418=) | |
20 | g.57565586A>C | CA409437640 | PCK1 | c.1651A>C (p.Lys551Gln) n.4293A>C c.1255A>C (p.Lys419Gln) | |
20 | g.57565586A>G | CA409437641 | PCK1 | c.1651A>G (p.Lys551Glu) n.4293A>G c.1255A>G (p.Lys419Glu) | |
20 | g.57565586A>T | CA409437642 | PCK1 | c.1651A>T (p.Lys551Ter) n.4293A>T c.1255A>T (p.Lys419Ter) | |
20 | g.57565587A>C | CA409437643 | PCK1 | c.1652A>C (p.Lys551Thr) n.4294A>C c.1256A>C (p.Lys419Thr) | |
20 | g.57565587A>G | CA409437644 | PCK1 | c.1652A>G (p.Lys551Arg) n.4294A>G c.1256A>G (p.Lys419Arg) | |
20 | g.57565587A>T | CA409437645 | PCK1 | c.1652A>T (p.Lys551Met) n.4294A>T c.1256A>T (p.Lys419Met) | |
20 | g.57565588G>A | CA511311069 | PCK1 | c.1653G>A (p.Lys551=) n.4295G>A c.1257G>A (p.Lys419=) | |
20 | g.57565588G>C | CA409437647 | PCK1 | c.1653G>C (p.Lys551Asn) n.4295G>C c.1257G>C (p.Lys419Asn) | |
20 | g.57565588G>T | CA409437646 | PCK1 | c.1653G>T (p.Lys551Asn) n.4295G>T c.1257G>T (p.Lys419Asn) | |
20 | g.57565589C>A | CA409437648 | PCK1 | c.1654C>A (p.Leu552Ile) n.4296C>A c.1258C>A (p.Leu420Ile) | dbSNP |
20 | g.57565589C>G | CA409437649 | PCK1 | c.1654C>G (p.Leu552Val) n.4296C>G c.1258C>G (p.Leu420Val) | |
20 | g.57565589C>T | CA409437650 | PCK1 | c.1654C>T (p.Leu552Phe) n.4296C>T c.1258C>T (p.Leu420Phe) | |
20 | g.57565590T>A | CA409437651 | PCK1 | c.1655T>A (p.Leu552His) n.4297T>A c.1259T>A (p.Leu420His) | dbSNP |
20 | g.57565590T>C | CA409437652 | PCK1 | c.1655T>C (p.Leu552Pro) n.4297T>C c.1259T>C (p.Leu420Pro) | |
20 | g.57565590T>G | CA409437653 | PCK1 | c.1655T>G (p.Leu552Arg) n.4297T>G c.1259T>G (p.Leu420Arg) | |
20 | g.57565591C>A | CA511311070 | PCK1 | c.1656C>A (p.Leu552=) n.4298C>A c.1260C>A (p.Leu420=) | |
20 | g.57565591C>G | CA511311071 | PCK1 | c.1656C>G (p.Leu552=) n.4298C>G c.1260C>G (p.Leu420=) | COSMIC |
20 | g.57565591C>T | CA511311072 | PCK1 | c.1656C>T (p.Leu552=) n.4298C>T c.1260C>T (p.Leu420=) | COSMIC |
20 | g.57565592A>C | CA409437654 | PCK1 | c.1657A>C (p.Thr553Pro) n.4299A>C c.1261A>C (p.Thr421Pro) | gnomAD v4 |
20 | g.57565592A>G | CA409437655 | PCK1 | c.1657A>G (p.Thr553Ala) n.4299A>G c.1261A>G (p.Thr421Ala) | |
20 | g.57565592A>T | CA409437656 | PCK1 | c.1657A>T (p.Thr553Ser) n.4299A>T c.1261A>T (p.Thr421Ser) | gnomAD v4 |
20 | g.57565593C>A | CA409437657 | PCK1 | c.1658C>A (p.Thr553Lys) n.4300C>A c.1262C>A (p.Thr421Lys) | dbSNP |
20 | g.57565593C= | CA2371897642 | PCK1 | c.1658C= (p.Thr553=) n.4300C= c.1262C= (p.Thr421=) | |
20 | g.57565593C>G | CA409437658 | PCK1 | c.1658C>G (p.Thr553Arg) n.4300C>G c.1262C>G (p.Thr421Arg) | |
20 | g.57565593C>T | CA9922441 | PCK1 | c.1658C>T (p.Thr553Met) n.4300C>T c.1262C>T (p.Thr421Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |