Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.57565600dup | CA2839339560 | PCK1 | c.1665dup (p.Gly556ArgfsTer?) n.4307dup c.1269dup (p.Gly424ArgfsTer?) | |
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 |
20 | g.57565624C>A | CA511311110 | PCK1 | c.1689C>A (p.Ala563=) n.4331C>A c.1293C>A (p.Ala431=) | |
20 | g.57565624C>G | CA511311111 | PCK1 | c.1689C>G (p.Ala563=) n.4331C>G c.1293C>G (p.Ala431=) | |
20 | g.57565624C>T | CA511311112 | PCK1 | c.1689C>T (p.Ala563=) n.4331C>T c.1293C>T (p.Ala431=) | |
20 | g.57565625C>A | CA409437723 | PCK1 | c.1690C>A (p.Leu564Met) n.4332C>A c.1294C>A (p.Leu432Met) | dbSNP |
20 | g.57565625C= | CA2371897664 | PCK1 | c.1690C= (p.Leu564=) n.4332C= c.1294C= (p.Leu432=) | |
20 | g.57565625C>G | CA409437724 | PCK1 | c.1690C>G (p.Leu564Val) n.4332C>G c.1294C>G (p.Leu432Val) | |
20 | g.57565625C>T | CA511311113 | PCK1 | c.1690C>T (p.Leu564=) n.4332C>T c.1294C>T (p.Leu432=) | dbSNP |
20 | g.57565626T>A | CA409437725 | PCK1 | c.1691T>A (p.Leu564Gln) n.4333T>A c.1295T>A (p.Leu432Gln) | |
20 | g.57565626T>C | CA409437726 | PCK1 | c.1691T>C (p.Leu564Pro) n.4333T>C c.1295T>C (p.Leu432Pro) | |
20 | g.57565626T>G | CA409437727 | PCK1 | c.1691T>G (p.Leu564Arg) n.4333T>G c.1295T>G (p.Leu432Arg) | |
20 | g.57565627G>A | CA511311114 | PCK1 | c.1692G>A (p.Leu564=) n.4334G>A c.1296G>A (p.Leu432=) | dbSNP gnomAD v4 |
20 | g.57565627G>C | CA511311115 | PCK1 | c.1692G>C (p.Leu564=) n.4334G>C c.1296G>C (p.Leu432=) | |
20 | g.57565627G>T | CA511311116 | PCK1 | c.1692G>T (p.Leu564=) n.4334G>T c.1296G>T (p.Leu432=) | dbSNP |
20 | g.57565628A>C | CA409437728 | PCK1 | c.1693A>C (p.Asn565His) n.4335A>C c.1297A>C (p.Asn433His) | |
20 | g.57565628A>G | CA409437729 | PCK1 | c.1693A>G (p.Asn565Asp) n.4335A>G c.1297A>G (p.Asn433Asp) | dbSNP |
20 | g.57565628A>T | CA409437730 | PCK1 | c.1693A>T (p.Asn565Tyr) n.4335A>T c.1297A>T (p.Asn433Tyr) | |
20 | g.57565629A>C | CA409437731 | PCK1 | c.1694A>C (p.Asn565Thr) n.4336A>C c.1298A>C (p.Asn433Thr) | |
20 | g.57565629A>G | CA409437733 | PCK1 | c.1694A>G (p.Asn565Ser) n.4336A>G c.1298A>G (p.Asn433Ser) | |
20 | g.57565629A>T | CA409437732 | PCK1 | c.1694A>T (p.Asn565Ile) n.4336A>T c.1298A>T (p.Asn433Ile) | |
20 | g.57565630C>A | CA409437734 | PCK1 | c.1695C>A (p.Asn565Lys) n.4337C>A c.1299C>A (p.Asn433Lys) | |
20 | g.57565630C>G | CA409437735 | PCK1 | c.1695C>G (p.Asn565Lys) n.4337C>G c.1299C>G (p.Asn433Lys) | gnomAD v4 |
20 | g.57565630C>T | CA511311120 | PCK1 | c.1695C>T (p.Asn565=) n.4337C>T c.1299C>T (p.Asn433=) | |
20 | g.57565631C>A | CA409437736 | PCK1 | c.1696C>A (p.Leu566Met) n.4338C>A c.1300C>A (p.Leu434Met) | |
20 | g.57565631C= | CA2371897665 | PCK1 | c.1696C= (p.Leu566=) n.4338C= c.1300C= (p.Leu434=) | |
20 | g.57565631C>G | CA409437737 | PCK1 | c.1696C>G (p.Leu566Val) n.4338C>G c.1300C>G (p.Leu434Val) | |
20 | g.57565631C>T | CA316282444 | PCK1 | c.1696C>T (p.Leu566=) n.4338C>T c.1300C>T (p.Leu434=) | dbSNP gnomAD v4 |
20 | g.57565632T>A | CA409437738 | PCK1 | c.1697T>A (p.Leu566Gln) n.4339T>A c.1301T>A (p.Leu434Gln) | |
20 | g.57565632T>C | CA409437739 | PCK1 | c.1697T>C (p.Leu566Pro) n.4339T>C c.1301T>C (p.Leu434Pro) | dbSNP |
20 | g.57565632T>G | CA409437740 | PCK1 | c.1697T>G (p.Leu566Arg) n.4339T>G c.1301T>G (p.Leu434Arg) | |
20 | g.57565632T= | CA2371897666 | PCK1 | c.1697T= (p.Leu566=) n.4339T= c.1301T= (p.Leu434=) | |
20 | g.57565633G>A | CA511311121 | PCK1 | c.1698G>A (p.Leu566=) n.4340G>A c.1302G>A (p.Leu434=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565633G>C | CA511311123 | PCK1 | c.1698G>C (p.Leu566=) n.4340G>C c.1302G>C (p.Leu434=) | dbSNP gnomAD v4 COSMIC |
20 | g.57565633G= | CA2371897667 | PCK1 | c.1698G= (p.Leu566=) n.4340G= c.1302G= (p.Leu434=) | |
20 | g.57565633G>T | CA511311125 | PCK1 | c.1698G>T (p.Leu566=) n.4340G>T c.1302G>T (p.Leu434=) | |
20 | g.57565634A>C | CA409437743 | PCK1 | c.1699A>C (p.Lys567Gln) n.4341A>C c.1303A>C (p.Lys435Gln) | |
20 | g.57565634A>G | CA409437741 | PCK1 | c.1699A>G (p.Lys567Glu) n.4341A>G c.1303A>G (p.Lys435Glu) | |
20 | g.57565634A>T | CA409437742 | PCK1 | c.1699A>T (p.Lys567Ter) n.4341A>T c.1303A>T (p.Lys435Ter) | |
20 | g.57565635A>C | CA409437744 | PCK1 | c.1700A>C (p.Lys567Thr) n.4342A>C c.1304A>C (p.Lys435Thr) | COSMIC |
20 | g.57565635A>G | CA409437745 | PCK1 | c.1700A>G (p.Lys567Arg) n.4342A>G c.1304A>G (p.Lys435Arg) | dbSNP |
20 | g.57565635A>T | CA409437746 | PCK1 | c.1700A>T (p.Lys567Ile) n.4342A>T c.1304A>T (p.Lys435Ile) | |
20 | g.57565636A>C | CA409437747 | PCK1 | c.1701A>C (p.Lys567Asn) n.4343A>C c.1305A>C (p.Lys435Asn) | |
20 | g.57565636A>G | CA511311127 | PCK1 | c.1701A>G (p.Lys567=) n.4343A>G c.1305A>G (p.Lys435=) | |
20 | g.57565636A>T | CA409437748 | PCK1 | c.1701A>T (p.Lys567Asn) n.4343A>T c.1305A>T (p.Lys435Asn) | |
20 | g.57565637G>A | CA316282450 | PCK1 | c.1702G>A (p.Gly568Ser) n.4344G>A c.1306G>A (p.Gly436Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565637G>C | CA409437750 | PCK1 | c.1702G>C (p.Gly568Arg) n.4344G>C c.1306G>C (p.Gly436Arg) | |
20 | g.57565637G= | CA2371897668 | PCK1 | c.1702G= (p.Gly568=) n.4344G= c.1306G= (p.Gly436=) | |
20 | g.57565637G>T | CA409437749 | PCK1 | c.1702G>T (p.Gly568Cys) n.4344G>T c.1306G>T (p.Gly436Cys) | |
20 | g.57565638G>A | CA409437751 | PCK1 | c.1703G>A (p.Gly568Asp) n.4345G>A c.1307G>A (p.Gly436Asp) | COSMIC |
20 | g.57565638G>C | CA409437752 | PCK1 | c.1703G>C (p.Gly568Ala) n.4345G>C c.1307G>C (p.Gly436Ala) | gnomAD v4 |
20 | g.57565638G= | CA2371897669 | PCK1 | c.1703G= (p.Gly568=) n.4345G= c.1307G= (p.Gly436=) | |
20 | g.57565638G>T | CA409437753 | PCK1 | c.1703G>T (p.Gly568Val) n.4345G>T c.1307G>T (p.Gly436Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57565639C>A | CA511311131 | PCK1 | c.1704C>A (p.Gly568=) n.4346C>A c.1308C>A (p.Gly436=) | |
20 | g.57565639C>G | CA511311132 | PCK1 | c.1704C>G (p.Gly568=) n.4346C>G c.1308C>G (p.Gly436=) | |
20 | g.57565639C>T | CA511311133 | PCK1 | c.1704C>T (p.Gly568=) n.4346C>T c.1308C>T (p.Gly436=) | gnomAD v4 |
20 | g.57565640C>A | CA409437754 | PCK1 | c.1705C>A (p.Leu569Met) n.4347C>A c.1309C>A (p.Leu437Met) | ClinVar |
20 | g.57565640C>G | CA409437755 | PCK1 | c.1705C>G (p.Leu569Val) n.4347C>G c.1309C>G (p.Leu437Val) | |
20 | g.57565640C>T | CA511311134 | PCK1 | c.1705C>T (p.Leu569=) n.4347C>T c.1309C>T (p.Leu437=) | |
20 | g.57565641T>A | CA409437756 | PCK1 | c.1706T>A (p.Leu569Gln) n.4348T>A c.1310T>A (p.Leu437Gln) | |
20 | g.57565641T>C | CA409437757 | PCK1 | c.1706T>C (p.Leu569Pro) n.4348T>C c.1310T>C (p.Leu437Pro) | |
20 | g.57565641T>G | CA409437758 | PCK1 | c.1706T>G (p.Leu569Arg) n.4348T>G c.1310T>G (p.Leu437Arg) | |
20 | g.57565642G>A | CA511311135 | PCK1 | c.1707G>A (p.Leu569=) n.4349G>A c.1311G>A (p.Leu437=) | |
20 | g.57565642G>C | CA511311136 | PCK1 | c.1707G>C (p.Leu569=) n.4349G>C c.1311G>C (p.Leu437=) | |
20 | g.57565642G>T | CA511311137 | PCK1 | c.1707G>T (p.Leu569=) n.4349G>T c.1311G>T (p.Leu437=) | |
20 | g.57565643G>A | CA9922449 | PCK1 | c.1708G>A (p.Gly570Arg) n.4350G>A c.1312G>A (p.Gly438Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57565643G>C | CA409437759 | PCK1 | c.1708G>C (p.Gly570Arg) n.4350G>C c.1312G>C (p.Gly438Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57565643G= | CA2371897670 | PCK1 | c.1708G= (p.Gly570=) n.4350G= c.1312G= (p.Gly438=) | |
20 | g.57565643G>T | CA409437760 | PCK1 | c.1708G>T (p.Gly570Trp) n.4350G>T c.1312G>T (p.Gly438Trp) | |
20 | g.57565644G>A | CA409437761 | PCK1 | c.1709G>A (p.Gly570Glu) n.4351G>A c.1313G>A (p.Gly438Glu) | dbSNP gnomAD v4 |
20 | g.57565644G>C | CA409437763 | PCK1 | c.1709G>C (p.Gly570Ala) n.4351G>C c.1313G>C (p.Gly438Ala) | |
20 | g.57565644G>T | CA409437762 | PCK1 | c.1709G>T (p.Gly570Val) n.4351G>T c.1313G>T (p.Gly438Val) | |
20 | g.57565645G>A | CA9922450 | PCK1 | c.1710G>A (p.Gly570=) n.4352G>A c.1314G>A (p.Gly438=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565645G>C | CA511311139 | PCK1 | c.1710G>C (p.Gly570=) n.4352G>C c.1314G>C (p.Gly438=) | |
20 | g.57565645G= | CA2371897671 | PCK1 | c.1710G= (p.Gly570=) n.4352G= c.1314G= (p.Gly438=) | |
20 | g.57565645G>T | CA511311140 | PCK1 | c.1710G>T (p.Gly570=) n.4352G>T c.1314G>T (p.Gly438=) | |
20 | g.57565646C>A | CA409437764 | PCK1 | c.1711C>A (p.His571Asn) n.4353C>A c.1315C>A (p.His439Asn) | |
20 | g.57565646C= | CA2371897672 | PCK1 | c.1711C= (p.His571=) n.4353C= c.1315C= (p.His439=) | |
20 | g.57565646C>G | CA409437765 | PCK1 | c.1711C>G (p.His571Asp) n.4353C>G c.1315C>G (p.His439Asp) | dbSNP |
20 | g.57565646C>T | CA409437766 | PCK1 | c.1711C>T (p.His571Tyr) n.4353C>T c.1315C>T (p.His439Tyr) | dbSNP |
20 | g.57565647A= | CA2371897673 | PCK1 | c.1712A= (p.His571=) n.4354A= c.1316A= (p.His439=) | |
20 | g.57565647A>C | CA409437767 | PCK1 | c.1712A>C (p.His571Pro) n.4354A>C c.1316A>C (p.His439Pro) | |
20 | g.57565647A>G | CA409437768 | PCK1 | c.1712A>G (p.His571Arg) n.4354A>G c.1316A>G (p.His439Arg) | dbSNP gnomAD v4 |
20 | g.57565647A>T | CA409437769 | PCK1 | c.1712A>T (p.His571Leu) n.4354A>T c.1316A>T (p.His439Leu) | |
20 | g.57565648C>A | CA409437770 | PCK1 | c.1713C>A (p.His571Gln) n.4355C>A c.1317C>A (p.His439Gln) | |
20 | g.57565648C>G | CA409437771 | PCK1 | c.1713C>G (p.His571Gln) n.4355C>G c.1317C>G (p.His439Gln) | |
20 | g.57565648C>T | CA511311141 | PCK1 | c.1713C>T (p.His571=) n.4355C>T c.1317C>T (p.His439=) | gnomAD v4 |
20 | g.57565649A= | CA2371897674 | PCK1 | c.1714A= (p.Ile572=) n.4356A= c.1318A= (p.Ile440=) | |
20 | g.57565649A>C | CA409437772 | PCK1 | c.1714A>C (p.Ile572Leu) n.4356A>C c.1318A>C (p.Ile440Leu) | |
20 | g.57565649A>G | CA409437773 | PCK1 | c.1714A>G (p.Ile572Val) n.4356A>G c.1318A>G (p.Ile440Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565649A>T | CA409437774 | PCK1 | c.1714A>T (p.Ile572Phe) n.4356A>T c.1318A>T (p.Ile440Phe) | ClinVar dbSNP |
20 | g.57565650T>A | CA409437777 | PCK1 | c.1715T>A (p.Ile572Asn) n.4357T>A c.1319T>A (p.Ile440Asn) | |
20 | g.57565650T>C | CA409437775 | PCK1 | c.1715T>C (p.Ile572Thr) n.4357T>C c.1319T>C (p.Ile440Thr) | |
20 | g.57565650T>G | CA409437776 | PCK1 | c.1715T>G (p.Ile572Ser) n.4357T>G c.1319T>G (p.Ile440Ser) | |
20 | g.57565651C>A | CA511311142 | PCK1 | c.1716C>A (p.Ile572=) n.4358C>A c.1320C>A (p.Ile440=) | |
20 | g.57565651C= | CA2371897675 | PCK1 | c.1716C= (p.Ile572=) n.4358C= c.1320C= (p.Ile440=) | |
20 | g.57565651C>G | CA409437778 | PCK1 | c.1716C>G (p.Ile572Met) n.4358C>G c.1320C>G (p.Ile440Met) | |
20 | g.57565651C>T | CA316282462 | PCK1 | c.1716C>T (p.Ile572=) n.4358C>T c.1320C>T (p.Ile440=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57565653_57565655del | CA645614427 | PCK1 | c.1718_1720del (p.Asn573del) n.4360_4362del c.1322_1324del (p.Asn441del) | COSMIC |
20 | g.57565652A>C | CA409437779 | PCK1 | c.1717A>C (p.Asn573His) n.4359A>C c.1321A>C (p.Asn441His) | |
20 | g.57565652A>G | CA409437780 | PCK1 | c.1717A>G (p.Asn573Asp) n.4359A>G c.1321A>G (p.Asn441Asp) | |
20 | g.57565652A>T | CA409437781 | PCK1 | c.1717A>T (p.Asn573Tyr) n.4359A>T c.1321A>T (p.Asn441Tyr) | |
20 | g.57565653A= | CA2371897676 | PCK1 | c.1718A= (p.Asn573=) n.4360A= c.1322A= (p.Asn441=) | |
20 | g.57565653A>C | CA409437782 | PCK1 | c.1718A>C (p.Asn573Thr) n.4360A>C c.1322A>C (p.Asn441Thr) | |
20 | g.57565653A>G | CA409437783 | PCK1 | c.1718A>G (p.Asn573Ser) n.4360A>G c.1322A>G (p.Asn441Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565653A>T | CA409437784 | PCK1 | c.1718A>T (p.Asn573Ile) n.4360A>T c.1322A>T (p.Asn441Ile) | |
20 | g.57565654C>A | CA409437785 | PCK1 | c.1719C>A (p.Asn573Lys) n.4361C>A c.1323C>A (p.Asn441Lys) | |
20 | g.57565654C>G | CA409437786 | PCK1 | c.1719C>G (p.Asn573Lys) n.4361C>G c.1323C>G (p.Asn441Lys) | |
20 | g.57565654C>T | CA511311143 | PCK1 | c.1719C>T (p.Asn573=) n.4361C>T c.1323C>T (p.Asn441=) | dbSNP gnomAD v4 |
20 | g.57565655A= | CA2371897677 | PCK1 | c.1720A= (p.Met574=) n.4362A= c.1324A= (p.Met442=) | |
20 | g.57565655A>C | CA409437788 | PCK1 | c.1720A>C (p.Met574Leu) n.4362A>C c.1324A>C (p.Met442Leu) | |
20 | g.57565655A>G | CA9922451 | PCK1 | c.1720A>G (p.Met574Val) n.4362A>G c.1324A>G (p.Met442Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565655A>T | CA409437787 | PCK1 | c.1720A>T (p.Met574Leu) n.4362A>T c.1324A>T (p.Met442Leu) | |
20 | g.57565656T>A | CA409437789 | PCK1 | c.1721T>A (p.Met574Lys) n.4363T>A c.1325T>A (p.Met442Lys) | |
20 | g.57565656T>C | CA409437791 | PCK1 | c.1721T>C (p.Met574Thr) n.4363T>C c.1325T>C (p.Met442Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565656T>G | CA409437790 | PCK1 | c.1721T>G (p.Met574Arg) n.4363T>G c.1325T>G (p.Met442Arg) | |
20 | g.57565656T= | CA2371897678 | PCK1 | c.1721T= (p.Met574=) n.4363T= c.1325T= (p.Met442=) | |
20 | g.57565657G>A | CA409437792 | PCK1 | c.1722G>A (p.Met574Ile) n.4364G>A c.1326G>A (p.Met442Ile) | gnomAD v4 |
20 | g.57565657G>C | CA409437794 | PCK1 | c.1722G>C (p.Met574Ile) n.4364G>C c.1326G>C (p.Met442Ile) | gnomAD v4 |
20 | g.57565657G>T | CA409437793 | PCK1 | c.1722G>T (p.Met574Ile) n.4364G>T c.1326G>T (p.Met442Ile) | |
20 | g.57565658A= | CA2371897679 | PCK1 | c.1723A= (p.Met575=) n.4365A= c.1327A= (p.Met443=) | |
20 | g.57565658A>C | CA409437795 | PCK1 | c.1723A>C (p.Met575Leu) n.4365A>C c.1327A>C (p.Met443Leu) | |
20 | g.57565658A>G | CA9922452 | PCK1 | c.1723A>G (p.Met575Val) n.4365A>G c.1327A>G (p.Met443Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565658A>T | CA409437796 | PCK1 | c.1723A>T (p.Met575Leu) n.4365A>T c.1327A>T (p.Met443Leu) | |
20 | g.57565659T>A | CA409437797 | PCK1 | c.1724T>A (p.Met575Lys) n.4366T>A c.1328T>A (p.Met443Lys) | dbSNP |
20 | g.57565659T>C | CA409437798 | PCK1 | c.1724T>C (p.Met575Thr) n.4366T>C c.1328T>C (p.Met443Thr) | gnomAD v4 |
20 | g.57565659T>G | CA409437799 | PCK1 | c.1724T>G (p.Met575Arg) n.4366T>G c.1328T>G (p.Met443Arg) | |
20 | g.57565659T= | CA2371897680 | PCK1 | c.1724T= (p.Met575=) n.4366T= c.1328T= (p.Met443=) | |
20 | g.57565660G>A | CA409437800 | PCK1 | c.1725G>A (p.Met575Ile) n.4367G>A c.1329G>A (p.Met443Ile) | |
20 | g.57565660G>C | CA409437801 | PCK1 | c.1725G>C (p.Met575Ile) n.4367G>C c.1329G>C (p.Met443Ile) | |
20 | g.57565660G>T | CA409437802 | PCK1 | c.1725G>T (p.Met575Ile) n.4367G>T c.1329G>T (p.Met443Ile) | |
20 | g.57565661G>A | CA409437803 | PCK1 | c.1726G>A (p.Glu576Lys) n.4368G>A c.1330G>A (p.Glu444Lys) | dbSNP |
20 | g.57565661G>C | CA409437804 | PCK1 | c.1726G>C (p.Glu576Gln) n.4368G>C c.1330G>C (p.Glu444Gln) | |
20 | g.57565661G>T | CA409437805 | PCK1 | c.1726G>T (p.Glu576Ter) n.4368G>T c.1330G>T (p.Glu444Ter) | |
20 | g.57565662A>C | CA409437806 | PCK1 | c.1727A>C (p.Glu576Ala) n.4369A>C c.1331A>C (p.Glu444Ala) | gnomAD v4 |
20 | g.57565662A>G | CA409437807 | PCK1 | c.1727A>G (p.Glu576Gly) n.4369A>G c.1331A>G (p.Glu444Gly) | gnomAD v4 |
20 | g.57565662A>T | CA409437808 | PCK1 | c.1727A>T (p.Glu576Val) n.4369A>T c.1331A>T (p.Glu444Val) | |
20 | g.57565663G>A | CA511311149 | PCK1 | c.1728G>A (p.Glu576=) n.4370G>A c.1332G>A (p.Glu444=) | dbSNP gnomAD v2 |
20 | g.57565663G>C | CA409437809 | PCK1 | c.1728G>C (p.Glu576Asp) n.4370G>C c.1332G>C (p.Glu444Asp) | gnomAD v4 |
20 | g.57565663G= | CA2371897681 | PCK1 | c.1728G= (p.Glu576=) n.4370G= c.1332G= (p.Glu444=) | |
20 | g.57565663G>T | CA409437810 | PCK1 | c.1728G>T (p.Glu576Asp) n.4370G>T c.1332G>T (p.Glu444Asp) | |
20 | g.57565664C>A | CA409437811 | PCK1 | c.1729C>A (p.Leu577Ile) n.4371C>A c.1333C>A (p.Leu445Ile) | dbSNP gnomAD v4 |
20 | g.57565664C= | CA2371897682 | PCK1 | c.1729C= (p.Leu577=) n.4371C= c.1333C= (p.Leu445=) | |
20 | g.57565664C>G | CA409437812 | PCK1 | c.1729C>G (p.Leu577Val) n.4371C>G c.1333C>G (p.Leu445Val) | dbSNP gnomAD v4 |
20 | g.57565664C>T | CA409437813 | PCK1 | c.1729C>T (p.Leu577Phe) n.4371C>T c.1333C>T (p.Leu445Phe) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57565665T>A | CA409437814 | PCK1 | c.1730T>A (p.Leu577His) n.4372T>A c.1334T>A (p.Leu445His) | |
20 | g.57565665T>C | CA409437815 | PCK1 | c.1730T>C (p.Leu577Pro) n.4372T>C c.1334T>C (p.Leu445Pro) | |
20 | g.57565665T>G | CA409437816 | PCK1 | c.1730T>G (p.Leu577Arg) n.4372T>G c.1334T>G (p.Leu445Arg) | |
20 | g.57565666T>A | CA511311152 | PCK1 | c.1731T>A (p.Leu577=) n.4373T>A c.1335T>A (p.Leu445=) | gnomAD v4 |
20 | g.57565666T>C | CA9922453 | PCK1 | c.1731T>C (p.Leu577=) n.4373T>C c.1335T>C (p.Leu445=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57565666T>G | CA511311153 | PCK1 | c.1731T>G (p.Leu577=) n.4373T>G c.1335T>G (p.Leu445=) | dbSNP |
20 | g.57565666T= | CA2371897683 | PCK1 | c.1731T= (p.Leu577=) n.4373T= c.1335T= (p.Leu445=) | |
20 | g.57565667T>A | CA409437817 | PCK1 | c.1732T>A (p.Phe578Ile) n.4374T>A c.1336T>A (p.Phe446Ile) | |
20 | g.57565667T>C | CA409437818 | PCK1 | c.1732T>C (p.Phe578Leu) n.4374T>C c.1336T>C (p.Phe446Leu) | gnomAD v4 |
20 | g.57565667T>G | CA409437819 | PCK1 | c.1732T>G (p.Phe578Val) n.4374T>G c.1336T>G (p.Phe446Val) | |
20 | g.57565668T>A | CA409437822 | PCK1 | c.1733T>A (p.Phe578Tyr) n.4375T>A c.1337T>A (p.Phe446Tyr) | |
20 | g.57565668T>C | CA409437821 | PCK1 | c.1733T>C (p.Phe578Ser) n.4375T>C c.1337T>C (p.Phe446Ser) | gnomAD v4 |
20 | g.57565668T>G | CA409437820 | PCK1 | c.1733T>G (p.Phe578Cys) n.4375T>G c.1337T>G (p.Phe446Cys) | |
20 | g.57565669C>A | CA409437823 | PCK1 | c.1734C>A (p.Phe578Leu) n.4376C>A c.1338C>A (p.Phe446Leu) | |
20 | g.57565669C= | CA2371897684 | PCK1 | c.1734C= (p.Phe578=) n.4376C= c.1338C= (p.Phe446=) | |
20 | g.57565669C>G | CA409437824 | PCK1 | c.1734C>G (p.Phe578Leu) n.4376C>G c.1338C>G (p.Phe446Leu) | |
20 | g.57565669C>T | CA511311154 | PCK1 | c.1734C>T (p.Phe578=) n.4376C>T c.1338C>T (p.Phe446=) | dbSNP |
20 | g.57565670A= | CA2371897685 | PCK1 | c.1735A= (p.Ser579=) n.4377A= c.1339A= (p.Ser447=) | |
20 | g.57565670A>C | CA9922454 | PCK1 | c.1735A>C (p.Ser579Arg) n.4377A>C c.1339A>C (p.Ser447Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565670A>G | CA409437825 | PCK1 | c.1735A>G (p.Ser579Gly) n.4377A>G c.1339A>G (p.Ser447Gly) | dbSNP gnomAD v4 |
20 | g.57565670A>T | CA409437826 | PCK1 | c.1735A>T (p.Ser579Cys) n.4377A>T c.1339A>T (p.Ser447Cys) | |
20 | g.57565671G>A | CA316282515 | PCK1 | c.1736G>A (p.Ser579Asn) n.4378G>A c.1340G>A (p.Ser447Asn) | dbSNP |
20 | g.57565671G>C | CA409437827 | PCK1 | c.1736G>C (p.Ser579Thr) n.4378G>C c.1340G>C (p.Ser447Thr) | dbSNP |
20 | g.57565671G= | CA2371897686 | PCK1 | c.1736G= (p.Ser579=) n.4378G= c.1340G= (p.Ser447=) | |
20 | g.57565671G>T | CA409437828 | PCK1 | c.1736G>T (p.Ser579Ile) n.4378G>T c.1340G>T (p.Ser447Ile) | |
20 | g.57565672C>A | CA409437829 | PCK1 | c.1737C>A (p.Ser579Arg) n.4379C>A c.1341C>A (p.Ser447Arg) | |
20 | g.57565672C= | CA2371897687 | PCK1 | c.1737C= (p.Ser579=) n.4379C= c.1341C= (p.Ser447=) | |
20 | g.57565672C>G | CA409437830 | PCK1 | c.1737C>G (p.Ser579Arg) n.4379C>G c.1341C>G (p.Ser447Arg) | dbSNP |
20 | g.57565672C>T | CA511311156 | PCK1 | c.1737C>T (p.Ser579=) n.4379C>T c.1341C>T (p.Ser447=) | dbSNP |
20 | g.57565673A= | CA2371897688 | PCK1 | c.1738A= (p.Ile580=) n.4380A= c.1342A= (p.Ile448=) | |
20 | g.57565673A>C | CA409437831 | PCK1 | c.1738A>C (p.Ile580Leu) n.4380A>C c.1342A>C (p.Ile448Leu) | gnomAD v4 |
20 | g.57565673A>G | CA9922455 | PCK1 | c.1738A>G (p.Ile580Val) n.4380A>G c.1342A>G (p.Ile448Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565673A>T | CA409437832 | PCK1 | c.1738A>T (p.Ile580Phe) n.4380A>T c.1342A>T (p.Ile448Phe) | |
20 | g.57565674T>A | CA409437833 | PCK1 | c.1739T>A (p.Ile580Asn) n.4381T>A c.1343T>A (p.Ile448Asn) | |
20 | g.57565674T>C | CA316282525 | PCK1 | c.1739T>C (p.Ile580Thr) n.4381T>C c.1343T>C (p.Ile448Thr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57565674T>G | CA409437834 | PCK1 | c.1739T>G (p.Ile580Ser) n.4381T>G c.1343T>G (p.Ile448Ser) | |
20 | g.57565674T= | CA2371897689 | PCK1 | c.1739T= (p.Ile580=) n.4381T= c.1343T= (p.Ile448=) | |
20 | g.57565675C>A | CA511311159 | PCK1 | c.1740C>A (p.Ile580=) n.4382C>A c.1344C>A (p.Ile448=) | dbSNP |
20 | g.57565675C= | CA2371897690 | PCK1 | c.1740C= (p.Ile580=) n.4382C= c.1344C= (p.Ile448=) | |
20 | g.57565675C>G | CA409437835 | PCK1 | c.1740C>G (p.Ile580Met) n.4382C>G c.1344C>G (p.Ile448Met) | |
20 | g.57565675C>T | CA511311160 | PCK1 | c.1740C>T (p.Ile580=) n.4382C>T c.1344C>T (p.Ile448=) | dbSNP |
20 | g.57565676T>A | CA409437836 | PCK1 | c.1741T>A (p.Ser581Thr) n.4383T>A c.1345T>A (p.Ser449Thr) | |
20 | g.57565676T>C | CA409437837 | PCK1 | c.1741T>C (p.Ser581Pro) n.4383T>C c.1345T>C (p.Ser449Pro) | |
20 | g.57565676T>G | CA409437838 | PCK1 | c.1741T>G (p.Ser581Ala) n.4383T>G c.1345T>G (p.Ser449Ala) | |
20 | g.57565677C>A | CA409437839 | PCK1 | c.1742C>A (p.Ser581Tyr) n.4384C>A c.1346C>A (p.Ser449Tyr) | |
20 | g.57565677C>G | CA409437840 | PCK1 | c.1742C>G (p.Ser581Cys) n.4384C>G c.1346C>G (p.Ser449Cys) | dbSNP |
20 | g.57565677C>T | CA409437841 | PCK1 | c.1742C>T (p.Ser581Phe) n.4384C>T c.1346C>T (p.Ser449Phe) | gnomAD v4 COSMIC |
20 | g.57565678C>A | CA511311162 | PCK1 | c.1743C>A (p.Ser581=) n.4385C>A c.1347C>A (p.Ser449=) | |
20 | g.57565678C= | CA2371897691 | PCK1 | c.1743C= (p.Ser581=) n.4385C= c.1347C= (p.Ser449=) | |
20 | g.57565678C>G | CA511311164 | PCK1 | c.1743C>G (p.Ser581=) n.4385C>G c.1347C>G (p.Ser449=) | |
20 | g.57565678C>T | CA511311166 | PCK1 | c.1743C>T (p.Ser581=) n.4385C>T c.1347C>T (p.Ser449=) | dbSNP |
20 | g.57565679A>C | CA409437842 | PCK1 | c.1744A>C (p.Lys582Gln) n.4386A>C c.1348A>C (p.Lys450Gln) | gnomAD v4 |
20 | g.57565679A>G | CA409437843 | PCK1 | c.1744A>G (p.Lys582Glu) n.4386A>G c.1348A>G (p.Lys450Glu) | |
20 | g.57565679A>T | CA409437844 | PCK1 | c.1744A>T (p.Lys582Ter) n.4386A>T c.1348A>T (p.Lys450Ter) | |
20 | g.57565680A= | CA2371897692 | PCK1 | c.1745A= (p.Lys582=) n.4387A= c.1349A= (p.Lys450=) | |
20 | g.57565680A>C | CA409437846 | PCK1 | c.1745A>C (p.Lys582Thr) n.4387A>C c.1349A>C (p.Lys450Thr) | |
20 | g.57565680A>G | CA9922456 | PCK1 | c.1745A>G (p.Lys582Arg) n.4387A>G c.1349A>G (p.Lys450Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57565680A>T | CA409437845 | PCK1 | c.1745A>T (p.Lys582Met) n.4387A>T c.1349A>T (p.Lys450Met) | |
20 | g.57565681G>A | CA511311167 | PCK1 | c.1746G>A (p.Lys582=) n.4388G>A c.1350G>A (p.Lys450=) | gnomAD v4 |
20 | g.57565681G>C | CA409437848 | PCK1 | c.1746G>C (p.Lys582Asn) n.4388G>C c.1350G>C (p.Lys450Asn) | |
20 | g.57565681G>T | CA409437847 | PCK1 | c.1746G>T (p.Lys582Asn) n.4388G>T c.1350G>T (p.Lys450Asn) | |
20 | g.57565682G>A | CA409437849 | PCK1 | c.1747G>A (p.Glu583Lys) n.4389G>A c.1351G>A (p.Glu451Lys) | |
20 | g.57565682G>C | CA409437850 | PCK1 | c.1747G>C (p.Glu583Gln) n.4389G>C c.1351G>C (p.Glu451Gln) | dbSNP |
20 | g.57565682G>T | CA409437851 | PCK1 | c.1747G>T (p.Glu583Ter) n.4389G>T c.1351G>T (p.Glu451Ter) | |
20 | g.57565683A>C | CA409437852 | PCK1 | c.1748A>C (p.Glu583Ala) n.4390A>C c.1352A>C (p.Glu451Ala) | |
20 | g.57565683A>G | CA409437853 | PCK1 | c.1748A>G (p.Glu583Gly) n.4390A>G c.1352A>G (p.Glu451Gly) | |
20 | g.57565683A>T | CA409437854 | PCK1 | c.1748A>T (p.Glu583Val) n.4390A>T c.1352A>T (p.Glu451Val) | |
20 | g.57565684A= | CA2371897693 | PCK1 | c.1749A= (p.Glu583=) n.4391A= c.1353A= (p.Glu451=) | |
20 | g.57565684A>C | CA409437855 | PCK1 | c.1749A>C (p.Glu583Asp) n.4391A>C c.1353A>C (p.Glu451Asp) | |
20 | g.57565684A>G | CA511311168 | PCK1 | c.1749A>G (p.Glu583=) n.4391A>G c.1353A>G (p.Glu451=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57565684A>T | CA409437856 | PCK1 | c.1749A>T (p.Glu583Asp) n.4391A>T c.1353A>T (p.Glu451Asp) | |
20 | g.57565685T>A | CA409437857 | PCK1 | c.1750T>A (p.Phe584Ile) n.4392T>A c.1354T>A (p.Phe452Ile) | |
20 | g.57565685T>C | CA409437858 | PCK1 | c.1750T>C (p.Phe584Leu) n.4392T>C c.1354T>C (p.Phe452Leu) | |
20 | g.57565685T>G | CA409437859 | PCK1 | c.1750T>G (p.Phe584Val) n.4392T>G c.1354T>G (p.Phe452Val) | |
20 | g.57565686T>A | CA409437862 | PCK1 | c.1751T>A (p.Phe584Tyr) n.4393T>A c.1355T>A (p.Phe452Tyr) | |
20 | g.57565686T>C | CA409437860 | PCK1 | c.1751T>C (p.Phe584Ser) n.4393T>C c.1355T>C (p.Phe452Ser) | |
20 | g.57565686T>G | CA409437861 | PCK1 | c.1751T>G (p.Phe584Cys) n.4393T>G c.1355T>G (p.Phe452Cys) | |
20 | g.57565687C>A | CA409437863 | PCK1 | c.1752C>A (p.Phe584Leu) n.4394C>A c.1356C>A (p.Phe452Leu) | |
20 | g.57565687C= | CA2371897694 | PCK1 | c.1752C= (p.Phe584=) n.4394C= c.1356C= (p.Phe452=) | |
20 | g.57565687C>G | CA409437864 | PCK1 | c.1752C>G (p.Phe584Leu) n.4394C>G c.1356C>G (p.Phe452Leu) | dbSNP |
20 | g.57565687C>T | CA9922457 | PCK1 | c.1752C>T (p.Phe584=) n.4394C>T c.1356C>T (p.Phe452=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57565688T>A | CA409437865 | PCK1 | c.1753T>A (p.Trp585Arg) n.4395T>A c.1357T>A (p.Trp453Arg) | |
20 | g.57565688T>C | CA409437866 | PCK1 | c.1753T>C (p.Trp585Arg) n.4395T>C c.1357T>C (p.Trp453Arg) | |
20 | g.57565688T>G | CA409437867 | PCK1 | c.1753T>G (p.Trp585Gly) n.4395T>G c.1357T>G (p.Trp453Gly) | |
20 | g.57565689G>A | CA409437868 | PCK1 | c.1754G>A (p.Trp585Ter) n.4396G>A c.1358G>A (p.Trp453Ter) | |
20 | g.57565689G>C | CA409437869 | PCK1 | c.1754G>C (p.Trp585Ser) n.4396G>C c.1358G>C (p.Trp453Ser) | |
20 | g.57565689G>T | CA409437870 | PCK1 | c.1754G>T (p.Trp585Leu) n.4396G>T c.1358G>T (p.Trp453Leu) | gnomAD v4 |
20 | g.57565690G>A | CA409437871 | PCK1 | c.1755G>A (p.Trp585Ter) n.4397G>A c.1359G>A (p.Trp453Ter) | dbSNP |
20 | g.57565690G>C | CA409437872 | PCK1 | c.1755G>C (p.Trp585Cys) n.4397G>C c.1359G>C (p.Trp453Cys) | dbSNP gnomAD v4 |
20 | g.57565690G>T | CA409437873 | PCK1 | c.1755G>T (p.Trp585Cys) n.4397G>T c.1359G>T (p.Trp453Cys) | dbSNP |
20 | g.57565691G>A | CA409437875 | PCK1 | c.1756G>A (p.Glu586Lys) n.4398G>A c.1360G>A (p.Glu454Lys) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57565691G>C | CA409437876 | PCK1 | c.1756G>C (p.Glu586Gln) n.4398G>C c.1360G>C (p.Glu454Gln) | |
20 | g.57565691G= | CA2371897695 | PCK1 | c.1756G= (p.Glu586=) n.4398G= c.1360G= (p.Glu454=) | |
20 | g.57565691G>T | CA409437874 | PCK1 | c.1756G>T (p.Glu586Ter) n.4398G>T c.1360G>T (p.Glu454Ter) | |
20 | g.57565692A= | CA2371897696 | PCK1 | c.1757A= (p.Glu586=) n.4399A= c.1361A= (p.Glu454=) | |
20 | g.57565692A>C | CA409437877 | PCK1 | c.1757A>C (p.Glu586Ala) n.4399A>C c.1361A>C (p.Glu454Ala) | |
20 | g.57565692A>G | CA316282553 | PCK1 | c.1757A>G (p.Glu586Gly) n.4399A>G c.1361A>G (p.Glu454Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57565692A>T | CA409437878 | PCK1 | c.1757A>T (p.Glu586Val) n.4399A>T c.1361A>T (p.Glu454Val) | |
20 | g.57565693G>A | CA511311174 | PCK1 | c.1758G>A (p.Glu586=) n.4400G>A c.1362G>A (p.Glu454=) | dbSNP |
20 | g.57565693G>C | CA316282571 | PCK1 | c.1758G>C (p.Glu586Asp) n.4400G>C c.1362G>C (p.Glu454Asp) | dbSNP |
20 | g.57565693G= | CA2371897697 | PCK1 | c.1758G= (p.Glu586=) n.4400G= c.1362G= (p.Glu454=) | |
20 | g.57565693G>T | CA409437879 | PCK1 | c.1758G>T (p.Glu586Asp) n.4400G>T c.1362G>T (p.Glu454Asp) |