| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 20 | g.57565594G>A | CA9922442 | PCK1 | c.1659G>A (p.Thr553=) n.4301G>A c.1263G>A (p.Thr421=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.57565594G>C | CA511311074 | PCK1 | c.1659G>C (p.Thr553=) n.4301G>C c.1263G>C (p.Thr421=) | |
| 20 | g.57565594G= | CA2371897643 | PCK1 | c.1659G= (p.Thr553=) n.4301G= c.1263G= (p.Thr421=) | |
| 20 | g.57565594G>T | CA511311073 | PCK1 | c.1659G>T (p.Thr553=) n.4301G>T c.1263G>T (p.Thr421=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565595C>A | CA409437661 | PCK1 | c.1660C>A (p.Pro554Thr) n.4302C>A c.1264C>A (p.Pro422Thr) | |
| 20 | g.57565595C>G | CA409437660 | PCK1 | c.1660C>G (p.Pro554Ala) n.4302C>G c.1264C>G (p.Pro422Ala) | |
| 20 | g.57565595C>T | CA409437659 | PCK1 | c.1660C>T (p.Pro554Ser) n.4302C>T c.1264C>T (p.Pro422Ser) | |
| 20 | g.57565596C>A | CA409437662 | PCK1 | c.1661C>A (p.Pro554His) n.4303C>A c.1265C>A (p.Pro422His) | |
| 20 | g.57565596C= | CA2371897644 | PCK1 | c.1661C= (p.Pro554=) n.4303C= c.1265C= (p.Pro422=) | |
| 20 | g.57565596C>G | CA409437663 | PCK1 | c.1661C>G (p.Pro554Arg) n.4303C>G c.1265C>G (p.Pro422Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565596C>T | CA409437664 | PCK1 | c.1661C>T (p.Pro554Leu) n.4303C>T c.1265C>T (p.Pro422Leu) | |
| 20 | g.57565597C>A | CA511311075 | PCK1 | c.1662C>A (p.Pro554=) n.4304C>A c.1266C>A (p.Pro422=) | |
| 20 | g.57565597C>G | CA511311076 | PCK1 | c.1662C>G (p.Pro554=) n.4304C>G c.1266C>G (p.Pro422=) | |
| 20 | g.57565597C>T | CA511311077 | PCK1 | c.1662C>T (p.Pro554=) n.4304C>T c.1266C>T (p.Pro422=) | |
| 20 | g.57565598A>C | CA409437665 | PCK1 | c.1663A>C (p.Ile555Leu) n.4305A>C c.1267A>C (p.Ile423Leu) | |
| 20 | g.57565598A>G | CA409437666 | PCK1 | c.1663A>G (p.Ile555Val) n.4305A>G c.1267A>G (p.Ile423Val) | gnomAD v4 |
| 20 | g.57565598A>T | CA409437667 | PCK1 | c.1663A>T (p.Ile555Leu) n.4305A>T c.1267A>T (p.Ile423Leu) | |
| 20 | g.57565599T>A | CA409437668 | PCK1 | c.1664T>A (p.Ile555Lys) n.4306T>A c.1268T>A (p.Ile423Lys) | |
| 20 | g.57565599T>C | CA409437669 | PCK1 | c.1664T>C (p.Ile555Thr) n.4306T>C c.1268T>C (p.Ile423Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565599T>G | CA409437670 | PCK1 | c.1664T>G (p.Ile555Arg) n.4306T>G c.1268T>G (p.Ile423Arg) | |
| 20 | g.57565599T= | CA2371897645 | PCK1 | c.1664T= (p.Ile555=) n.4306T= c.1268T= (p.Ile423=) | |
| 20 | g.57565600A= | CA2371897646 | PCK1 | c.1665A= (p.Ile555=) n.4307A= c.1269A= (p.Ile423=) | |
| 20 | g.57565600A>C | CA511311078 | PCK1 | c.1665A>C (p.Ile555=) n.4307A>C c.1269A>C (p.Ile423=) | dbSNP |
| 20 | g.57565600A>G | CA409437671 | PCK1 | c.1665A>G (p.Ile555Met) n.4307A>G c.1269A>G (p.Ile423Met) | |
| 20 | g.57565600A>T | CA511311079 | PCK1 | c.1665A>T (p.Ile555=) n.4307A>T c.1269A>T (p.Ile423=) | gnomAD v4 |
| 20 | g.57565601G>A | CA409437672 | PCK1 | c.1666G>A (p.Gly556Ser) n.4308G>A c.1270G>A (p.Gly424Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565601G>C | CA409437673 | PCK1 | c.1666G>C (p.Gly556Arg) n.4308G>C c.1270G>C (p.Gly424Arg) | |
| 20 | g.57565601G= | CA2371897647 | PCK1 | c.1666G= (p.Gly556=) n.4308G= c.1270G= (p.Gly424=) | |
| 20 | g.57565601G>T | CA409437674 | PCK1 | c.1666G>T (p.Gly556Cys) n.4308G>T c.1270G>T (p.Gly424Cys) | |
| 20 | g.57565602G>A | CA409437676 | PCK1 | c.1667G>A (p.Gly556Asp) n.4309G>A c.1271G>A (p.Gly424Asp) | dbSNP gnomAD v4 |
| 20 | g.57565602G>C | CA409437677 | PCK1 | c.1667G>C (p.Gly556Ala) n.4309G>C c.1271G>C (p.Gly424Ala) | |
| 20 | g.57565602G= | CA2371897648 | PCK1 | c.1667G= (p.Gly556=) n.4309G= c.1271G= (p.Gly424=) | |
| 20 | g.57565602G>T | CA409437675 | PCK1 | c.1667G>T (p.Gly556Val) n.4309G>T c.1271G>T (p.Gly424Val) | dbSNP gnomAD v4 |
| 20 | g.57565603C>A | CA511311095 | PCK1 | c.1668C>A (p.Gly556=) n.4310C>A c.1272C>A (p.Gly424=) | |
| 20 | g.57565603C>G | CA511311096 | PCK1 | c.1668C>G (p.Gly556=) n.4310C>G c.1272C>G (p.Gly424=) | |
| 20 | g.57565603C>T | CA511311097 | PCK1 | c.1668C>T (p.Gly556=) n.4310C>T c.1272C>T (p.Gly424=) | |
| 20 | g.57565604T>A | CA409437678 | PCK1 | c.1669T>A (p.Tyr557Asn) n.4311T>A c.1273T>A (p.Tyr425Asn) | |
| 20 | g.57565604T>C | CA409437679 | PCK1 | c.1669T>C (p.Tyr557His) n.4311T>C c.1273T>C (p.Tyr425His) | |
| 20 | g.57565604T>G | CA409437680 | PCK1 | c.1669T>G (p.Tyr557Asp) n.4311T>G c.1273T>G (p.Tyr425Asp) | |
| 20 | g.57565605A= | CA2371897649 | PCK1 | c.1670A= (p.Tyr557=) n.4312A= c.1274A= (p.Tyr425=) | |
| 20 | g.57565605A>C | CA409437681 | PCK1 | c.1670A>C (p.Tyr557Ser) n.4312A>C c.1274A>C (p.Tyr425Ser) | |
| 20 | g.57565605A>G | CA409437682 | PCK1 | c.1670A>G (p.Tyr557Cys) n.4312A>G c.1274A>G (p.Tyr425Cys) | dbSNP gnomAD v2 |
| 20 | g.57565605A>T | CA409437683 | PCK1 | c.1670A>T (p.Tyr557Phe) n.4312A>T c.1274A>T (p.Tyr425Phe) | |
| 20 | g.57565606C>A | CA409437684 | PCK1 | c.1671C>A (p.Tyr557Ter) n.4313C>A c.1275C>A (p.Tyr425Ter) | |
| 20 | g.57565606C= | CA2371897650 | PCK1 | c.1671C= (p.Tyr557=) n.4313C= c.1275C= (p.Tyr425=) | |
| 20 | g.57565606C>G | CA9922443 | PCK1 | c.1671C>G (p.Tyr557Ter) n.4313C>G c.1275C>G (p.Tyr425Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565606C>T | CA511311098 | PCK1 | c.1671C>T (p.Tyr557=) n.4313C>T c.1275C>T (p.Tyr425=) | dbSNP |
| 20 | g.57565607A>C | CA409437685 | PCK1 | c.1672A>C (p.Ile558Leu) n.4314A>C c.1276A>C (p.Ile426Leu) | |
| 20 | g.57565607A>G | CA409437686 | PCK1 | c.1672A>G (p.Ile558Val) n.4314A>G c.1276A>G (p.Ile426Val) | |
| 20 | g.57565607A>T | CA409437687 | PCK1 | c.1672A>T (p.Ile558Phe) n.4314A>T c.1276A>T (p.Ile426Phe) | |
| 20 | g.57565608T>A | CA409437688 | PCK1 | c.1673T>A (p.Ile558Asn) n.4315T>A c.1277T>A (p.Ile426Asn) | gnomAD v4 |
| 20 | g.57565608T>C | CA409437689 | PCK1 | c.1673T>C (p.Ile558Thr) n.4315T>C c.1277T>C (p.Ile426Thr) | |
| 20 | g.57565608T>G | CA409437690 | PCK1 | c.1673T>G (p.Ile558Ser) n.4315T>G c.1277T>G (p.Ile426Ser) | |
| 20 | g.57565609C>A | CA9922445 | PCK1 | c.1674C>A (p.Ile558=) n.4316C>A c.1278C>A (p.Ile426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565609C= | CA2371897651 | PCK1 | c.1674C= (p.Ile558=) n.4316C= c.1278C= (p.Ile426=) | |
| 20 | g.57565609C>G | CA409437691 | PCK1 | c.1674C>G (p.Ile558Met) n.4316C>G c.1278C>G (p.Ile426Met) | |
| 20 | g.57565609C>T | CA9922444 | PCK1 | c.1674C>T (p.Ile558=) n.4316C>T c.1278C>T (p.Ile426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565610C>A | CA409437692 | PCK1 | c.1675C>A (p.Pro559Thr) n.4317C>A c.1279C>A (p.Pro427Thr) | dbSNP |
| 20 | g.57565610C>G | CA409437693 | PCK1 | c.1675C>G (p.Pro559Ala) n.4317C>G c.1279C>G (p.Pro427Ala) | |
| 20 | g.57565610C>T | CA409437694 | PCK1 | c.1675C>T (p.Pro559Ser) n.4317C>T c.1279C>T (p.Pro427Ser) | COSMIC |
| 20 | g.57565611C>A | CA409437695 | PCK1 | c.1676C>A (p.Pro559His) n.4318C>A c.1280C>A (p.Pro427His) | |
| 20 | g.57565611C= | CA2371897652 | PCK1 | c.1676C= (p.Pro559=) n.4318C= c.1280C= (p.Pro427=) | |
| 20 | g.57565611C>G | CA409437696 | PCK1 | c.1676C>G (p.Pro559Arg) n.4318C>G c.1280C>G (p.Pro427Arg) | |
| 20 | g.57565611C>T | CA9922446 | PCK1 | c.1676C>T (p.Pro559Leu) n.4318C>T c.1280C>T (p.Pro427Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565612C>A | CA511311102 | PCK1 | c.1677C>A (p.Pro559=) n.4319C>A c.1281C>A (p.Pro427=) | |
| 20 | g.57565612C= | CA2371897653 | PCK1 | c.1677C= (p.Pro559=) n.4319C= c.1281C= (p.Pro427=) | |
| 20 | g.57565612C>G | CA511311103 | PCK1 | c.1677C>G (p.Pro559=) n.4319C>G c.1281C>G (p.Pro427=) | |
| 20 | g.57565612C>T | CA511311104 | PCK1 | c.1677C>T (p.Pro559=) n.4319C>T c.1281C>T (p.Pro427=) | dbSNP COSMIC |
| 20 | g.57565613A= | CA2371897654 | PCK1 | c.1678A= (p.Lys560=) n.4320A= c.1282A= (p.Lys428=) | |
| 20 | g.57565613A>C | CA9922447 | PCK1 | c.1678A>C (p.Lys560Gln) n.4320A>C c.1282A>C (p.Lys428Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565613A>G | CA409437697 | PCK1 | c.1678A>G (p.Lys560Glu) n.4320A>G c.1282A>G (p.Lys428Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565613A>T | CA409437698 | PCK1 | c.1678A>T (p.Lys560Ter) n.4320A>T c.1282A>T (p.Lys428Ter) | |
| 20 | g.57565614A= | CA2371897655 | PCK1 | c.1679A= (p.Lys560=) n.4321A= c.1283A= (p.Lys428=) | |
| 20 | g.57565614A>C | CA409437699 | PCK1 | c.1679A>C (p.Lys560Thr) n.4321A>C c.1283A>C (p.Lys428Thr) | |
| 20 | g.57565614A>G | CA409437700 | PCK1 | c.1679A>G (p.Lys560Arg) n.4321A>G c.1283A>G (p.Lys428Arg) | gnomAD v4 |
| 20 | g.57565614A>T | CA316282418 | PCK1 | c.1679A>T (p.Lys560Met) n.4321A>T c.1283A>T (p.Lys428Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565615G>A | CA511311105 | PCK1 | c.1680G>A (p.Lys560=) n.4322G>A c.1284G>A (p.Lys428=) | dbSNP |
| 20 | g.57565615G>C | CA409437701 | PCK1 | c.1680G>C (p.Lys560Asn) n.4322G>C c.1284G>C (p.Lys428Asn) | |
| 20 | g.57565615G= | CA2371897656 | PCK1 | c.1680G= (p.Lys560=) n.4322G= c.1284G= (p.Lys428=) | |
| 20 | g.57565615G>T | CA409437702 | PCK1 | c.1680G>T (p.Lys560Asn) n.4322G>T c.1284G>T (p.Lys428Asn) | |
| 20 | g.57565616G>A | CA409437704 | PCK1 | c.1681G>A (p.Glu561Lys) n.4323G>A c.1285G>A (p.Glu429Lys) | dbSNP COSMIC |
| 20 | g.57565616G>C | CA409437705 | PCK1 | c.1681G>C (p.Glu561Gln) n.4323G>C c.1285G>C (p.Glu429Gln) | |
| 20 | g.57565616G= | CA2371897657 | PCK1 | c.1681G= (p.Glu561=) n.4323G= c.1285G= (p.Glu429=) | |
| 20 | g.57565616G>T | CA409437703 | PCK1 | c.1681G>T (p.Glu561Ter) n.4323G>T c.1285G>T (p.Glu429Ter) | |
| 20 | g.57565617A>C | CA409437706 | PCK1 | c.1682A>C (p.Glu561Ala) n.4324A>C c.1286A>C (p.Glu429Ala) | |
| 20 | g.57565617A>G | CA409437707 | PCK1 | c.1682A>G (p.Glu561Gly) n.4324A>G c.1286A>G (p.Glu429Gly) | |
| 20 | g.57565617A>T | CA409437708 | PCK1 | c.1682A>T (p.Glu561Val) n.4324A>T c.1286A>T (p.Glu429Val) | |
| 20 | g.57565618G>A | CA511311107 | PCK1 | c.1683G>A (p.Glu561=) n.4325G>A c.1287G>A (p.Glu429=) | dbSNP |
| 20 | g.57565618G>C | CA316282424 | PCK1 | c.1683G>C (p.Glu561Asp) n.4325G>C c.1287G>C (p.Glu429Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565618G= | CA2371897658 | PCK1 | c.1683G= (p.Glu561=) n.4325G= c.1287G= (p.Glu429=) | |
| 20 | g.57565618G>T | CA409437709 | PCK1 | c.1683G>T (p.Glu561Asp) n.4325G>T c.1287G>T (p.Glu429Asp) | |
| 20 | g.57565619G>A | CA9922448 | PCK1 | c.1684G>A (p.Asp562Asn) n.4326G>A c.1288G>A (p.Asp430Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565619G>C | CA409437710 | PCK1 | c.1684G>C (p.Asp562His) n.4326G>C c.1288G>C (p.Asp430His) | dbSNP |
| 20 | g.57565619G= | CA2371897659 | PCK1 | c.1684G= (p.Asp562=) n.4326G= c.1288G= (p.Asp430=) | |
| 20 | g.57565619G>T | CA409437711 | PCK1 | c.1684G>T (p.Asp562Tyr) n.4326G>T c.1288G>T (p.Asp430Tyr) | |
| 20 | g.57565620A= | CA2371897660 | PCK1 | c.1685A= (p.Asp562=) n.4327A= c.1289A= (p.Asp430=) | |
| 20 | g.57565620A>C | CA409437712 | PCK1 | c.1685A>C (p.Asp562Ala) n.4327A>C c.1289A>C (p.Asp430Ala) | |
| 20 | g.57565620A>G | CA409437713 | PCK1 | c.1685A>G (p.Asp562Gly) n.4327A>G c.1289A>G (p.Asp430Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565620A>T | CA409437714 | PCK1 | c.1685A>T (p.Asp562Val) n.4327A>T c.1289A>T (p.Asp430Val) | dbSNP |
| 20 | g.57565621T>A | CA409437715 | PCK1 | c.1686T>A (p.Asp562Glu) n.4328T>A c.1290T>A (p.Asp430Glu) | |
| 20 | g.57565621T>C | CA511311108 | PCK1 | c.1686T>C (p.Asp562=) n.4328T>C c.1290T>C (p.Asp430=) | dbSNP |
| 20 | g.57565621T>G | CA409437716 | PCK1 | c.1686T>G (p.Asp562Glu) n.4328T>G c.1290T>G (p.Asp430Glu) | |
| 20 | g.57565621T= | CA2371897661 | PCK1 | c.1686T= (p.Asp562=) n.4328T= c.1290T= (p.Asp430=) | |
| 20 | g.57565622G>A | CA409437719 | PCK1 | c.1687G>A (p.Ala563Thr) n.4329G>A c.1291G>A (p.Ala431Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565622G>C | CA409437717 | PCK1 | c.1687G>C (p.Ala563Pro) n.4329G>C c.1291G>C (p.Ala431Pro) | |
| 20 | g.57565622G= | CA2371897662 | PCK1 | c.1687G= (p.Ala563=) n.4329G= c.1291G= (p.Ala431=) | |
| 20 | g.57565622G>T | CA409437718 | PCK1 | c.1687G>T (p.Ala563Ser) n.4329G>T c.1291G>T (p.Ala431Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565623C>A | CA409437720 | PCK1 | c.1688C>A (p.Ala563Asp) n.4330C>A c.1292C>A (p.Ala431Asp) | dbSNP gnomAD v4 |
| 20 | g.57565623C= | CA2371897663 | PCK1 | c.1688C= (p.Ala563=) n.4330C= c.1292C= (p.Ala431=) | |
| 20 | g.57565623C>G | CA409437721 | PCK1 | c.1688C>G (p.Ala563Gly) n.4330C>G c.1292C>G (p.Ala431Gly) | |
| 20 | g.57565623C>T | CA409437722 | PCK1 | c.1688C>T (p.Ala563Val) n.4330C>T c.1292C>T (p.Ala431Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |