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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.57565406G>A | CA9922409 | PCK1 | c.1471G>A (p.Gly491Ser) n.4113G>A c.1075G>A (p.Gly359Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565406G>C | CA409437238 | PCK1 | c.1471G>C (p.Gly491Arg) n.4113G>C c.1075G>C (p.Gly359Arg) | dbSNP |
| 20 | g.57565406G= | CA2371897555 | PCK1 | c.1471G= (p.Gly491=) n.4113G= c.1075G= (p.Gly359=) | |
| 20 | g.57565406G>T | CA409437239 | PCK1 | c.1471G>T (p.Gly491Cys) n.4113G>T c.1075G>T (p.Gly359Cys) | |
| 20 | g.57565407G>A | CA409437240 | PCK1 | c.1472G>A (p.Gly491Asp) n.4114G>A c.1076G>A (p.Gly359Asp) | dbSNP |
| 20 | g.57565407G>C | CA409437241 | PCK1 | c.1472G>C (p.Gly491Ala) n.4114G>C c.1076G>C (p.Gly359Ala) | |
| 20 | g.57565407G= | CA2371897556 | PCK1 | c.1472G= (p.Gly491=) n.4114G= c.1076G= (p.Gly359=) | |
| 20 | g.57565407G>T | CA409437242 | PCK1 | c.1472G>T (p.Gly491Val) n.4114G>T c.1076G>T (p.Gly359Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565408C>A | CA511310973 | PCK1 | c.1473C>A (p.Gly491=) n.4115C>A c.1077C>A (p.Gly359=) | |
| 20 | g.57565408C>G | CA511310974 | PCK1 | c.1473C>G (p.Gly491=) n.4115C>G c.1077C>G (p.Gly359=) | |
| 20 | g.57565408C>T | CA511310975 | PCK1 | c.1473C>T (p.Gly491=) n.4115C>T c.1077C>T (p.Gly359=) | dbSNP |
| 20 | g.57565409A>C | CA409437245 | PCK1 | c.1474A>C (p.Lys492Gln) n.4116A>C c.1078A>C (p.Lys360Gln) | |
| 20 | g.57565409A>G | CA409437243 | PCK1 | c.1474A>G (p.Lys492Glu) n.4116A>G c.1078A>G (p.Lys360Glu) | |
| 20 | g.57565409A>T | CA409437244 | PCK1 | c.1474A>T (p.Lys492Ter) n.4116A>T c.1078A>T (p.Lys360Ter) | |
| 20 | g.57565410A>C | CA409437246 | PCK1 | c.1475A>C (p.Lys492Thr) n.4117A>C c.1079A>C (p.Lys360Thr) | |
| 20 | g.57565410A>G | CA409437247 | PCK1 | c.1475A>G (p.Lys492Arg) n.4117A>G c.1079A>G (p.Lys360Arg) | |
| 20 | g.57565410A>T | CA409437248 | PCK1 | c.1475A>T (p.Lys492Ile) n.4117A>T c.1079A>T (p.Lys360Ile) | |
| 20 | g.57565411A>C | CA409437249 | PCK1 | c.1476A>C (p.Lys492Asn) n.4118A>C c.1080A>C (p.Lys360Asn) | |
| 20 | g.57565411A>G | CA511310976 | PCK1 | c.1476A>G (p.Lys492=) n.4118A>G c.1080A>G (p.Lys360=) | |
| 20 | g.57565411A>T | CA409437250 | PCK1 | c.1476A>T (p.Lys492Asn) n.4118A>T c.1080A>T (p.Lys360Asn) | |
| 20 | g.57565412T>A | CA409437251 | PCK1 | c.1477T>A (p.Tyr493Asn) n.4119T>A c.1081T>A (p.Tyr361Asn) | |
| 20 | g.57565412T>C | CA409437253 | PCK1 | c.1477T>C (p.Tyr493His) n.4119T>C c.1081T>C (p.Tyr361His) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565412T>G | CA409437252 | PCK1 | c.1477T>G (p.Tyr493Asp) n.4119T>G c.1081T>G (p.Tyr361Asp) | |
| 20 | g.57565412T= | CA2371897557 | PCK1 | c.1477T= (p.Tyr493=) n.4119T= c.1081T= (p.Tyr361=) | |
| 20 | g.57565413A>C | CA409437254 | PCK1 | c.1478A>C (p.Tyr493Ser) n.4120A>C c.1082A>C (p.Tyr361Ser) | |
| 20 | g.57565413A>G | CA409437255 | PCK1 | c.1478A>G (p.Tyr493Cys) n.4120A>G c.1082A>G (p.Tyr361Cys) | |
| 20 | g.57565413A>T | CA409437256 | PCK1 | c.1478A>T (p.Tyr493Phe) n.4120A>T c.1082A>T (p.Tyr361Phe) | |
| 20 | g.57565414C>A | CA409437257 | PCK1 | c.1479C>A (p.Tyr493Ter) n.4121C>A c.1083C>A (p.Tyr361Ter) | |
| 20 | g.57565414C>G | CA409437258 | PCK1 | c.1479C>G (p.Tyr493Ter) n.4121C>G c.1083C>G (p.Tyr361Ter) | |
| 20 | g.57565414C>T | CA511310977 | PCK1 | c.1479C>T (p.Tyr493=) n.4121C>T c.1083C>T (p.Tyr361=) | |
| 20 | g.57565415C>A | CA409437259 | PCK1 | c.1480C>A (p.Leu494Met) n.4122C>A c.1084C>A (p.Leu362Met) | |
| 20 | g.57565415C= | CA2371897558 | PCK1 | c.1480C= (p.Leu494=) n.4122C= c.1084C= (p.Leu362=) | |
| 20 | g.57565415C>G | CA409437260 | PCK1 | c.1480C>G (p.Leu494Val) n.4122C>G c.1084C>G (p.Leu362Val) | |
| 20 | g.57565415C>T | CA511310978 | PCK1 | c.1480C>T (p.Leu494=) n.4122C>T c.1084C>T (p.Leu362=) | dbSNP gnomAD v4 |
| 20 | g.57565416T>A | CA409437261 | PCK1 | c.1481T>A (p.Leu494Gln) n.4123T>A c.1085T>A (p.Leu362Gln) | |
| 20 | g.57565416T>C | CA409437262 | PCK1 | c.1481T>C (p.Leu494Pro) n.4123T>C c.1085T>C (p.Leu362Pro) | |
| 20 | g.57565416T>G | CA409437263 | PCK1 | c.1481T>G (p.Leu494Arg) n.4123T>G c.1085T>G (p.Leu362Arg) | |
| 20 | g.57565417G>A | CA9922410 | PCK1 | c.1482G>A (p.Leu494=) n.4124G>A c.1086G>A (p.Leu362=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565417G>C | CA511310980 | PCK1 | c.1482G>C (p.Leu494=) n.4124G>C c.1086G>C (p.Leu362=) | |
| 20 | g.57565417G= | CA2371897559 | PCK1 | c.1482G= (p.Leu494=) n.4124G= c.1086G= (p.Leu362=) | |
| 20 | g.57565417G>T | CA511310979 | PCK1 | c.1482G>T (p.Leu494=) n.4124G>T c.1086G>T (p.Leu362=) | |
| 20 | g.57565418G>A | CA409437264 | PCK1 | c.1483G>A (p.Ala495Thr) n.4125G>A c.1087G>A (p.Ala363Thr) | COSMIC |
| 20 | g.57565418G>C | CA409437266 | PCK1 | c.1483G>C (p.Ala495Pro) n.4125G>C c.1087G>C (p.Ala363Pro) | |
| 20 | g.57565418G>T | CA409437265 | PCK1 | c.1483G>T (p.Ala495Ser) n.4125G>T c.1087G>T (p.Ala363Ser) | |
| 20 | g.57565419C>A | CA9922411 | PCK1 | c.1484C>A (p.Ala495Asp) n.4126C>A c.1088C>A (p.Ala363Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565419C= | CA2371897560 | PCK1 | c.1484C= (p.Ala495=) n.4126C= c.1088C= (p.Ala363=) | |
| 20 | g.57565419C>G | CA409437267 | PCK1 | c.1484C>G (p.Ala495Gly) n.4126C>G c.1088C>G (p.Ala363Gly) | |
| 20 | g.57565419C>T | CA409437268 | PCK1 | c.1484C>T (p.Ala495Val) n.4126C>T c.1088C>T (p.Ala363Val) | dbSNP |
| 20 | g.57565420C>A | CA511310981 | PCK1 | c.1485C>A (p.Ala495=) n.4127C>A c.1089C>A (p.Ala363=) | |
| 20 | g.57565420C>G | CA511310982 | PCK1 | c.1485C>G (p.Ala495=) n.4127C>G c.1089C>G (p.Ala363=) | |
| 20 | g.57565420C>T | CA511310983 | PCK1 | c.1485C>T (p.Ala495=) n.4127C>T c.1089C>T (p.Ala363=) | dbSNP |
| 20 | g.57565421C>A | CA409437269 | PCK1 | c.1486C>A (p.His496Asn) n.4128C>A c.1090C>A (p.His364Asn) | |
| 20 | g.57565421C>G | CA409437270 | PCK1 | c.1486C>G (p.His496Asp) n.4128C>G c.1090C>G (p.His364Asp) | |
| 20 | g.57565421C>T | CA409437271 | PCK1 | c.1486C>T (p.His496Tyr) n.4128C>T c.1090C>T (p.His364Tyr) | |
| 20 | g.57565422A= | CA2371897561 | PCK1 | c.1487A= (p.His496=) n.4129A= c.1091A= (p.His364=) | |
| 20 | g.57565422A>C | CA409437273 | PCK1 | c.1487A>C (p.His496Pro) n.4129A>C c.1091A>C (p.His364Pro) | |
| 20 | g.57565422A>G | CA9922412 | PCK1 | c.1487A>G (p.His496Arg) n.4129A>G c.1091A>G (p.His364Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565422A>T | CA409437272 | PCK1 | c.1487A>T (p.His496Leu) n.4129A>T c.1091A>T (p.His364Leu) | |
| 20 | g.57565423C>A | CA409437274 | PCK1 | c.1488C>A (p.His496Gln) n.4130C>A c.1092C>A (p.His364Gln) | |
| 20 | g.57565423C= | CA2371897562 | PCK1 | c.1488C= (p.His496=) n.4130C= c.1092C= (p.His364=) | |
| 20 | g.57565423C>G | CA409437275 | PCK1 | c.1488C>G (p.His496Gln) n.4130C>G c.1092C>G (p.His364Gln) | ClinVar dbSNP |
| 20 | g.57565423C>T | CA316282201 | PCK1 | c.1488C>T (p.His496=) n.4130C>T c.1092C>T (p.His364=) | dbSNP |
| 20 | g.57565423_57565424delinsCT | CA2371897563 | PCK1 | c.1488_1489delinsCT (p.His496=) n.4130_4131delinsCT c.1092_1093delinsCT (p.His364=) | |
| 20 | g.57565424del | CA2371897564 | PCK1 | c.1489del (p.Trp497GlyfsTer?) n.4131del c.1093del (p.Trp365GlyfsTer?) | dbSNP |
| 20 | g.57565424T>A | CA409437276 | PCK1 | c.1489T>A (p.Trp497Arg) n.4131T>A c.1093T>A (p.Trp365Arg) | |
| 20 | g.57565424T>C | CA409437277 | PCK1 | c.1489T>C (p.Trp497Arg) n.4131T>C c.1093T>C (p.Trp365Arg) | |
| 20 | g.57565424T>G | CA409437278 | PCK1 | c.1489T>G (p.Trp497Gly) n.4131T>G c.1093T>G (p.Trp365Gly) | |
| 20 | g.57565425G>A | CA409437279 | PCK1 | c.1490G>A (p.Trp497Ter) n.4132G>A c.1094G>A (p.Trp365Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565425G>C | CA409437281 | PCK1 | c.1490G>C (p.Trp497Ser) n.4132G>C c.1094G>C (p.Trp365Ser) | |
| 20 | g.57565425G= | CA2371897565 | PCK1 | c.1490G= (p.Trp497=) n.4132G= c.1094G= (p.Trp365=) | |
| 20 | g.57565425G>T | CA409437280 | PCK1 | c.1490G>T (p.Trp497Leu) n.4132G>T c.1094G>T (p.Trp365Leu) | |
| 20 | g.57565426G>A | CA409437282 | PCK1 | c.1491G>A (p.Trp497Ter) n.4133G>A c.1095G>A (p.Trp365Ter) | dbSNP |
| 20 | g.57565426G>C | CA409437283 | PCK1 | c.1491G>C (p.Trp497Cys) n.4133G>C c.1095G>C (p.Trp365Cys) | dbSNP |
| 20 | g.57565426G= | CA2371897566 | PCK1 | c.1491G= (p.Trp497=) n.4133G= c.1095G= (p.Trp365=) | |
| 20 | g.57565426G>T | CA316282220 | PCK1 | c.1491G>T (p.Trp497Cys) n.4133G>T c.1095G>T (p.Trp365Cys) | dbSNP |
| 20 | g.57565427C>A | CA409437284 | PCK1 | c.1492C>A (p.Leu498Ile) n.4134C>A c.1096C>A (p.Leu366Ile) | dbSNP |
| 20 | g.57565427C= | CA2371897567 | PCK1 | c.1492C= (p.Leu498=) n.4134C= c.1096C= (p.Leu366=) | |
| 20 | g.57565427C>G | CA409437285 | PCK1 | c.1492C>G (p.Leu498Val) n.4134C>G c.1096C>G (p.Leu366Val) | |
| 20 | g.57565427C>T | CA409437286 | PCK1 | c.1492C>T (p.Leu498Phe) n.4134C>T c.1096C>T (p.Leu366Phe) | dbSNP |
| 20 | g.57565428T>A | CA409437287 | PCK1 | c.1493T>A (p.Leu498His) n.4135T>A c.1097T>A (p.Leu366His) | |
| 20 | g.57565428T>C | CA409437288 | PCK1 | c.1493T>C (p.Leu498Pro) n.4135T>C c.1097T>C (p.Leu366Pro) | |
| 20 | g.57565428T>G | CA409437289 | PCK1 | c.1493T>G (p.Leu498Arg) n.4135T>G c.1097T>G (p.Leu366Arg) | COSMIC |
| 20 | g.57565429T>A | CA511310984 | PCK1 | c.1494T>A (p.Leu498=) n.4136T>A c.1098T>A (p.Leu366=) | gnomAD v4 |
| 20 | g.57565429T>C | CA511310986 | PCK1 | c.1494T>C (p.Leu498=) n.4136T>C c.1098T>C (p.Leu366=) | |
| 20 | g.57565429T>G | CA511310985 | PCK1 | c.1494T>G (p.Leu498=) n.4136T>G c.1098T>G (p.Leu366=) | dbSNP |
| 20 | g.57565429T= | CA2371897568 | PCK1 | c.1494T= (p.Leu498=) n.4136T= c.1098T= (p.Leu366=) | |
| 20 | g.57565430A>C | CA409437290 | PCK1 | c.1495A>C (p.Ser499Arg) n.4137A>C c.1099A>C (p.Ser367Arg) | |
| 20 | g.57565430A>G | CA409437291 | PCK1 | c.1495A>G (p.Ser499Gly) n.4137A>G c.1099A>G (p.Ser367Gly) | dbSNP |
| 20 | g.57565430A>T | CA409437292 | PCK1 | c.1495A>T (p.Ser499Cys) n.4137A>T c.1099A>T (p.Ser367Cys) | |
| 20 | g.57565431G>A | CA409437293 | PCK1 | c.1496G>A (p.Ser499Asn) n.4138G>A c.1100G>A (p.Ser367Asn) | |
| 20 | g.57565431G>C | CA409437295 | PCK1 | c.1496G>C (p.Ser499Thr) n.4138G>C c.1100G>C (p.Ser367Thr) | |
| 20 | g.57565431G>T | CA409437294 | PCK1 | c.1496G>T (p.Ser499Ile) n.4138G>T c.1100G>T (p.Ser367Ile) | |
| 20 | g.57565432C>A | CA409437296 | PCK1 | c.1497C>A (p.Ser499Arg) n.4139C>A c.1101C>A (p.Ser367Arg) | |
| 20 | g.57565432C>G | CA409437297 | PCK1 | c.1497C>G (p.Ser499Arg) n.4139C>G c.1101C>G (p.Ser367Arg) | |
| 20 | g.57565432C>T | CA511310987 | PCK1 | c.1497C>T (p.Ser499=) n.4139C>T c.1101C>T (p.Ser367=) | dbSNP |
| 20 | g.57565433A>C | CA409437298 | PCK1 | c.1498A>C (p.Met500Leu) n.4140A>C c.1102A>C (p.Met368Leu) | |
| 20 | g.57565433A>G | CA409437299 | PCK1 | c.1498A>G (p.Met500Val) n.4140A>G c.1102A>G (p.Met368Val) | gnomAD v4 |
| 20 | g.57565433A>T | CA409437300 | PCK1 | c.1498A>T (p.Met500Leu) n.4140A>T c.1102A>T (p.Met368Leu) | |
| 20 | g.57565434T>A | CA409437301 | PCK1 | c.1499T>A (p.Met500Lys) n.4141T>A c.1103T>A (p.Met368Lys) | |
| 20 | g.57565434T>C | CA409437302 | PCK1 | c.1499T>C (p.Met500Thr) n.4141T>C c.1103T>C (p.Met368Thr) | |
| 20 | g.57565434T>G | CA409437303 | PCK1 | c.1499T>G (p.Met500Arg) n.4141T>G c.1103T>G (p.Met368Arg) | |
| 20 | g.57565435G>A | CA409437304 | PCK1 | c.1500G>A (p.Met500Ile) n.4142G>A c.1104G>A (p.Met368Ile) | |
| 20 | g.57565435G>C | CA409437305 | PCK1 | c.1500G>C (p.Met500Ile) n.4142G>C c.1104G>C (p.Met368Ile) | |
| 20 | g.57565435G>T | CA409437306 | PCK1 | c.1500G>T (p.Met500Ile) n.4142G>T c.1104G>T (p.Met368Ile) | |
| 20 | g.57565436G>A | CA409437309 | PCK1 | c.1501G>A (p.Ala501Thr) n.4143G>A c.1105G>A (p.Ala369Thr) | dbSNP |
| 20 | g.57565436G>C | CA409437308 | PCK1 | c.1501G>C (p.Ala501Pro) n.4143G>C c.1105G>C (p.Ala369Pro) | |
| 20 | g.57565436G>T | CA409437307 | PCK1 | c.1501G>T (p.Ala501Ser) n.4143G>T c.1105G>T (p.Ala369Ser) | |
| 20 | g.57565437C>A | CA409437310 | PCK1 | c.1502C>A (p.Ala501Asp) n.4144C>A c.1106C>A (p.Ala369Asp) | |
| 20 | g.57565437C>G | CA409437311 | PCK1 | c.1502C>G (p.Ala501Gly) n.4144C>G c.1106C>G (p.Ala369Gly) | |
| 20 | g.57565437C>T | CA409437312 | PCK1 | c.1502C>T (p.Ala501Val) n.4144C>T c.1106C>T (p.Ala369Val) | |
| 20 | g.57565444_57565450del | CA2653461894 | PCK1 | c.1509_1515del (p.His503GlnfsTer?) n.4151_4157del c.1113_1119del (p.His371GlnfsTer?) | gnomAD v4 |
| 20 | g.57565438C>A | CA511310990 | PCK1 | c.1503C>A (p.Ala501=) n.4145C>A c.1107C>A (p.Ala369=) | |
| 20 | g.57565438C= | CA2371897569 | PCK1 | c.1503C= (p.Ala501=) n.4145C= c.1107C= (p.Ala369=) | |
| 20 | g.57565438C>G | CA511310988 | PCK1 | c.1503C>G (p.Ala501=) n.4145C>G c.1107C>G (p.Ala369=) | dbSNP gnomAD v4 |
| 20 | g.57565438C>T | CA511310989 | PCK1 | c.1503C>T (p.Ala501=) n.4145C>T c.1107C>T (p.Ala369=) | gnomAD v4 |
| 20 | g.57565439C>A | CA409437313 | PCK1 | c.1504C>A (p.Gln502Lys) n.4146C>A c.1108C>A (p.Gln370Lys) | |
| 20 | g.57565439C>G | CA409437314 | PCK1 | c.1504C>G (p.Gln502Glu) n.4146C>G c.1108C>G (p.Gln370Glu) | |
| 20 | g.57565439C>T | CA409437315 | PCK1 | c.1504C>T (p.Gln502Ter) n.4146C>T c.1108C>T (p.Gln370Ter) | |
| 20 | g.57565440A= | CA2371897570 | PCK1 | c.1505A= (p.Gln502=) n.4147A= c.1109A= (p.Gln370=) | |
| 20 | g.57565440A>C | CA409437316 | PCK1 | c.1505A>C (p.Gln502Pro) n.4147A>C c.1109A>C (p.Gln370Pro) | |
| 20 | g.57565440A>G | CA9922413 | PCK1 | c.1505A>G (p.Gln502Arg) n.4147A>G c.1109A>G (p.Gln370Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565440A>T | CA409437317 | PCK1 | c.1505A>T (p.Gln502Leu) n.4147A>T c.1109A>T (p.Gln370Leu) | |
| 20 | g.57565441G>A | CA9922414 | PCK1 | c.1506G>A (p.Gln502=) n.4148G>A c.1110G>A (p.Gln370=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565441G>C | CA409437318 | PCK1 | c.1506G>C (p.Gln502His) n.4148G>C c.1110G>C (p.Gln370His) | dbSNP |
| 20 | g.57565441G= | CA2371897571 | PCK1 | c.1506G= (p.Gln502=) n.4148G= c.1110G= (p.Gln370=) | |
| 20 | g.57565441G>T | CA409437319 | PCK1 | c.1506G>T (p.Gln502His) n.4148G>T c.1110G>T (p.Gln370His) | |
| 20 | g.57565442C>A | CA409437320 | PCK1 | c.1507C>A (p.His503Asn) n.4149C>A c.1111C>A (p.His371Asn) | |
| 20 | g.57565442C= | CA2371897572 | PCK1 | c.1507C= (p.His503=) n.4149C= c.1111C= (p.His371=) | |
| 20 | g.57565442C>G | CA409437321 | PCK1 | c.1507C>G (p.His503Asp) n.4149C>G c.1111C>G (p.His371Asp) | |
| 20 | g.57565442C>T | CA9922415 | PCK1 | c.1507C>T (p.His503Tyr) n.4149C>T c.1111C>T (p.His371Tyr) | dbSNP ExAC gnomAD v2 |
| 20 | g.57565443A= | CA2371897573 | PCK1 | c.1508A= (p.His503=) n.4150A= c.1112A= (p.His371=) | |
| 20 | g.57565443A>C | CA409437322 | PCK1 | c.1508A>C (p.His503Pro) n.4150A>C c.1112A>C (p.His371Pro) | |
| 20 | g.57565443A>G | CA409437324 | PCK1 | c.1508A>G (p.His503Arg) n.4150A>G c.1112A>G (p.His371Arg) | dbSNP |
| 20 | g.57565443A>T | CA409437323 | PCK1 | c.1508A>T (p.His503Leu) n.4150A>T c.1112A>T (p.His371Leu) | |
| 20 | g.57565444C>A | CA409437325 | PCK1 | c.1509C>A (p.His503Gln) n.4151C>A c.1113C>A (p.His371Gln) | gnomAD v4 |
| 20 | g.57565444C= | CA2371897574 | PCK1 | c.1509C= (p.His503=) n.4151C= c.1113C= (p.His371=) | |
| 20 | g.57565444C>G | CA409437326 | PCK1 | c.1509C>G (p.His503Gln) n.4151C>G c.1113C>G (p.His371Gln) | |
| 20 | g.57565444C>T | CA511310991 | PCK1 | c.1509C>T (p.His503=) n.4151C>T c.1113C>T (p.His371=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565446_57565453del | CA2653461895 | PCK1 | c.1511_1518del (p.Pro504GlnfsTer?) n.4153_4160del c.1115_1122del (p.Pro372GlnfsTer?) | gnomAD v4 |
| 20 | g.57565445C>A | CA409437327 | PCK1 | c.1510C>A (p.Pro504Thr) n.4152C>A c.1114C>A (p.Pro372Thr) | |
| 20 | g.57565445C= | CA2371897575 | PCK1 | c.1510C= (p.Pro504=) n.4152C= c.1114C= (p.Pro372=) | |
| 20 | g.57565445C>G | CA409437329 | PCK1 | c.1510C>G (p.Pro504Ala) n.4152C>G c.1114C>G (p.Pro372Ala) | gnomAD v4 |
| 20 | g.57565445C>T | CA409437328 | PCK1 | c.1510C>T (p.Pro504Ser) n.4152C>T c.1114C>T (p.Pro372Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565446C>A | CA409437330 | PCK1 | c.1511C>A (p.Pro504Gln) n.4153C>A c.1115C>A (p.Pro372Gln) | |
| 20 | g.57565446C>G | CA409437331 | PCK1 | c.1511C>G (p.Pro504Arg) n.4153C>G c.1115C>G (p.Pro372Arg) | |
| 20 | g.57565446C>T | CA409437332 | PCK1 | c.1511C>T (p.Pro504Leu) n.4153C>T c.1115C>T (p.Pro372Leu) | |
| 20 | g.57565447A= | CA2371897576 | PCK1 | c.1512A= (p.Pro504=) n.4154A= c.1116A= (p.Pro372=) | |
| 20 | g.57565447A>C | CA511310992 | PCK1 | c.1512A>C (p.Pro504=) n.4154A>C c.1116A>C (p.Pro372=) | |
| 20 | g.57565447A>G | CA511310993 | PCK1 | c.1512A>G (p.Pro504=) n.4154A>G c.1116A>G (p.Pro372=) | |
| 20 | g.57565447A>T | CA9922416 | PCK1 | c.1512A>T (p.Pro504=) n.4154A>T c.1116A>T (p.Pro372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565448G>A | CA409437333 | PCK1 | c.1513G>A (p.Ala505Thr) n.4155G>A c.1117G>A (p.Ala373Thr) | dbSNP |
| 20 | g.57565448G>C | CA409437334 | PCK1 | c.1513G>C (p.Ala505Pro) n.4155G>C c.1117G>C (p.Ala373Pro) | dbSNP |
| 20 | g.57565448G>T | CA409437335 | PCK1 | c.1513G>T (p.Ala505Ser) n.4155G>T c.1117G>T (p.Ala373Ser) | |
| 20 | g.57565449C>A | CA409437336 | PCK1 | c.1514C>A (p.Ala505Glu) n.4156C>A c.1118C>A (p.Ala373Glu) | |
| 20 | g.57565449C= | CA2371897577 | PCK1 | c.1514C= (p.Ala505=) n.4156C= c.1118C= (p.Ala373=) | |
| 20 | g.57565449C>G | CA409437337 | PCK1 | c.1514C>G (p.Ala505Gly) n.4156C>G c.1118C>G (p.Ala373Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565449C>T | CA409437338 | PCK1 | c.1514C>T (p.Ala505Val) n.4156C>T c.1118C>T (p.Ala373Val) | dbSNP |
| 20 | g.57565450A>C | CA511310994 | PCK1 | c.1515A>C (p.Ala505=) n.4157A>C c.1119A>C (p.Ala373=) | dbSNP |
| 20 | g.57565450A>G | CA511310995 | PCK1 | c.1515A>G (p.Ala505=) n.4157A>G c.1119A>G (p.Ala373=) | |
| 20 | g.57565450A>T | CA511310996 | PCK1 | c.1515A>T (p.Ala505=) n.4157A>T c.1119A>T (p.Ala373=) | |
| 20 | g.57565451G>A | CA409437341 | PCK1 | c.1516G>A (p.Ala506Thr) n.4158G>A c.1120G>A (p.Ala374Thr) | dbSNP |
| 20 | g.57565451G>C | CA409437340 | PCK1 | c.1516G>C (p.Ala506Pro) n.4158G>C c.1120G>C (p.Ala374Pro) | |
| 20 | g.57565451G>T | CA409437339 | PCK1 | c.1516G>T (p.Ala506Ser) n.4158G>T c.1120G>T (p.Ala374Ser) | |
| 20 | g.57565452C>A | CA409437342 | PCK1 | c.1517C>A (p.Ala506Asp) n.4159C>A c.1121C>A (p.Ala374Asp) | dbSNP gnomAD v4 |
| 20 | g.57565452C>G | CA409437343 | PCK1 | c.1517C>G (p.Ala506Gly) n.4159C>G c.1121C>G (p.Ala374Gly) | |
| 20 | g.57565452C>T | CA409437344 | PCK1 | c.1517C>T (p.Ala506Val) n.4159C>T c.1121C>T (p.Ala374Val) | gnomAD v4 |
| 20 | g.57565453C>A | CA511310997 | PCK1 | c.1518C>A (p.Ala506=) n.4160C>A c.1122C>A (p.Ala374=) | gnomAD v4 |
| 20 | g.57565453C>G | CA511310998 | PCK1 | c.1518C>G (p.Ala506=) n.4160C>G c.1122C>G (p.Ala374=) | |
| 20 | g.57565453C>T | CA511310999 | PCK1 | c.1518C>T (p.Ala506=) n.4160C>T c.1122C>T (p.Ala374=) | |
| 20 | g.57565454A>C | CA409437345 | PCK1 | c.1519A>C (p.Lys507Gln) n.4161A>C c.1123A>C (p.Lys375Gln) | |
| 20 | g.57565454A>G | CA409437346 | PCK1 | c.1519A>G (p.Lys507Glu) n.4161A>G c.1123A>G (p.Lys375Glu) | |
| 20 | g.57565454A>T | CA409437347 | PCK1 | c.1519A>T (p.Lys507Ter) n.4161A>T c.1123A>T (p.Lys375Ter) | |
| 20 | g.57565455A>C | CA409437348 | PCK1 | c.1520A>C (p.Lys507Thr) n.4162A>C c.1124A>C (p.Lys375Thr) | |
| 20 | g.57565455A>G | CA409437349 | PCK1 | c.1520A>G (p.Lys507Arg) n.4162A>G c.1124A>G (p.Lys375Arg) | |
| 20 | g.57565455A>T | CA409437350 | PCK1 | c.1520A>T (p.Lys507Ile) n.4162A>T c.1124A>T (p.Lys375Ile) | |
| 20 | g.57565456A= | CA2371897578 | PCK1 | c.1521A= (p.Lys507=) n.4163A= c.1125A= (p.Lys375=) | |
| 20 | g.57565456A>C | CA409437351 | PCK1 | c.1521A>C (p.Lys507Asn) n.4163A>C c.1125A>C (p.Lys375Asn) | |
| 20 | g.57565456A>G | CA511311000 | PCK1 | c.1521A>G (p.Lys507=) n.4163A>G c.1125A>G (p.Lys375=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565456A>T | CA409437352 | PCK1 | c.1521A>T (p.Lys507Asn) n.4163A>T c.1125A>T (p.Lys375Asn) | |
| 20 | g.57565457C>A | CA409437354 | PCK1 | c.1522C>A (p.Leu508Met) n.4164C>A c.1126C>A (p.Leu376Met) | |
| 20 | g.57565457C= | CA2371897579 | PCK1 | c.1522C= (p.Leu508=) n.4164C= c.1126C= (p.Leu376=) | |
| 20 | g.57565457C>G | CA409437353 | PCK1 | c.1522C>G (p.Leu508Val) n.4164C>G c.1126C>G (p.Leu376Val) | |
| 20 | g.57565457C>T | CA9922417 | PCK1 | c.1522C>T (p.Leu508=) n.4164C>T c.1126C>T (p.Leu376=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565458T>A | CA409437355 | PCK1 | c.1523T>A (p.Leu508Gln) n.4165T>A c.1127T>A (p.Leu376Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565458T>C | CA409437356 | PCK1 | c.1523T>C (p.Leu508Pro) n.4165T>C c.1127T>C (p.Leu376Pro) | gnomAD v4 |
| 20 | g.57565458T>G | CA409437357 | PCK1 | c.1523T>G (p.Leu508Arg) n.4165T>G c.1127T>G (p.Leu376Arg) | |
| 20 | g.57565458T= | CA2371897580 | PCK1 | c.1523T= (p.Leu508=) n.4165T= c.1127T= (p.Leu376=) | |
| 20 | g.57565459G>A | CA511311003 | PCK1 | c.1524G>A (p.Leu508=) n.4166G>A c.1128G>A (p.Leu376=) | dbSNP COSMIC |
| 20 | g.57565459G>C | CA511311001 | PCK1 | c.1524G>C (p.Leu508=) n.4166G>C c.1128G>C (p.Leu376=) | |
| 20 | g.57565459G>T | CA511311002 | PCK1 | c.1524G>T (p.Leu508=) n.4166G>T c.1128G>T (p.Leu376=) | |
| 20 | g.57565460C>A | CA409437358 | PCK1 | c.1525C>A (p.Pro509Thr) n.4167C>A c.1129C>A (p.Pro377Thr) | |
| 20 | g.57565460C>G | CA409437359 | PCK1 | c.1525C>G (p.Pro509Ala) n.4167C>G c.1129C>G (p.Pro377Ala) | |
| 20 | g.57565460C>T | CA409437360 | PCK1 | c.1525C>T (p.Pro509Ser) n.4167C>T c.1129C>T (p.Pro377Ser) | dbSNP gnomAD v4 |
| 20 | g.57565461C>A | CA409437361 | PCK1 | c.1526C>A (p.Pro509His) n.4168C>A c.1130C>A (p.Pro377His) | COSMIC |
| 20 | g.57565461C>G | CA409437362 | PCK1 | c.1526C>G (p.Pro509Arg) n.4168C>G c.1130C>G (p.Pro377Arg) | |
| 20 | g.57565461C>T | CA409437363 | PCK1 | c.1526C>T (p.Pro509Leu) n.4168C>T c.1130C>T (p.Pro377Leu) | |
| 20 | g.57565462C>A | CA511311004 | PCK1 | c.1527C>A (p.Pro509=) n.4169C>A c.1131C>A (p.Pro377=) | |
| 20 | g.57565462C>G | CA511311005 | PCK1 | c.1527C>G (p.Pro509=) n.4169C>G c.1131C>G (p.Pro377=) | dbSNP gnomAD v4 |
| 20 | g.57565462C>T | CA511311006 | PCK1 | c.1527C>T (p.Pro509=) n.4169C>T c.1131C>T (p.Pro377=) | |
| 20 | g.57565463A>C | CA409437364 | PCK1 | c.1528A>C (p.Lys510Gln) n.4170A>C c.1132A>C (p.Lys378Gln) | |
| 20 | g.57565463A>G | CA409437365 | PCK1 | c.1528A>G (p.Lys510Glu) n.4170A>G c.1132A>G (p.Lys378Glu) | |
| 20 | g.57565463A>T | CA409437366 | PCK1 | c.1528A>T (p.Lys510Ter) n.4170A>T c.1132A>T (p.Lys378Ter) | |
| 20 | g.57565464A= | CA2371897581 | PCK1 | c.1529A= (p.Lys510=) n.4171A= c.1133A= (p.Lys378=) | |
| 20 | g.57565464A>C | CA409437369 | PCK1 | c.1529A>C (p.Lys510Thr) n.4171A>C c.1133A>C (p.Lys378Thr) | |
| 20 | g.57565464A>G | CA409437367 | PCK1 | c.1529A>G (p.Lys510Arg) n.4171A>G c.1133A>G (p.Lys378Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565464A>T | CA409437368 | PCK1 | c.1529A>T (p.Lys510Met) n.4171A>T c.1133A>T (p.Lys378Met) | |
| 20 | g.57565465G>A | CA511311007 | PCK1 | c.1530G>A (p.Lys510=) n.4172G>A c.1134G>A (p.Lys378=) | |
| 20 | g.57565465G>C | CA409437370 | PCK1 | c.1530G>C (p.Lys510Asn) n.4172G>C c.1134G>C (p.Lys378Asn) | |
| 20 | g.57565465G>T | CA409437371 | PCK1 | c.1530G>T (p.Lys510Asn) n.4172G>T c.1134G>T (p.Lys378Asn) | gnomAD v4 COSMIC |
| 20 | g.57565466A= | CA2371897582 | PCK1 | c.1531A= (p.Ile511=) n.4173A= c.1135A= (p.Ile379=) | |
| 20 | g.57565466A>C | CA409437372 | PCK1 | c.1531A>C (p.Ile511Leu) n.4173A>C c.1135A>C (p.Ile379Leu) | |
| 20 | g.57565466A>G | CA409437373 | PCK1 | c.1531A>G (p.Ile511Val) n.4173A>G c.1135A>G (p.Ile379Val) | dbSNP gnomAD v4 |
| 20 | g.57565466A>T | CA316282239 | PCK1 | c.1531A>T (p.Ile511Phe) n.4173A>T c.1135A>T (p.Ile379Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565467T>A | CA409437374 | PCK1 | c.1532T>A (p.Ile511Asn) n.4174T>A c.1136T>A (p.Ile379Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565467T>C | CA409437375 | PCK1 | c.1532T>C (p.Ile511Thr) n.4174T>C c.1136T>C (p.Ile379Thr) | |
| 20 | g.57565467T>G | CA409437376 | PCK1 | c.1532T>G (p.Ile511Ser) n.4174T>G c.1136T>G (p.Ile379Ser) | |
| 20 | g.57565467T= | CA2371897583 | PCK1 | c.1532T= (p.Ile511=) n.4174T= c.1136T= (p.Ile379=) | |
| 20 | g.57565468C>A | CA511311008 | PCK1 | c.1533C>A (p.Ile511=) n.4175C>A c.1137C>A (p.Ile379=) | |
| 20 | g.57565468C= | CA2371897584 | PCK1 | c.1533C= (p.Ile511=) n.4175C= c.1137C= (p.Ile379=) | |
| 20 | g.57565468C>G | CA409437377 | PCK1 | c.1533C>G (p.Ile511Met) n.4175C>G c.1137C>G (p.Ile379Met) | |
| 20 | g.57565468C>T | CA511311009 | PCK1 | c.1533C>T (p.Ile511=) n.4175C>T c.1137C>T (p.Ile379=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.57565469T>A | CA409437378 | PCK1 | c.1534T>A (p.Phe512Ile) n.4176T>A c.1138T>A (p.Phe380Ile) | |
| 20 | g.57565469T>C | CA409437379 | PCK1 | c.1534T>C (p.Phe512Leu) n.4176T>C c.1138T>C (p.Phe380Leu) | |
| 20 | g.57565469T>G | CA409437380 | PCK1 | c.1534T>G (p.Phe512Val) n.4176T>G c.1138T>G (p.Phe380Val) | |
| 20 | g.57565470T>A | CA409437382 | PCK1 | c.1535T>A (p.Phe512Tyr) n.4177T>A c.1139T>A (p.Phe380Tyr) | |
| 20 | g.57565470T>C | CA409437383 | PCK1 | c.1535T>C (p.Phe512Ser) n.4177T>C c.1139T>C (p.Phe380Ser) | dbSNP gnomAD v2 |
| 20 | g.57565470T>G | CA409437381 | PCK1 | c.1535T>G (p.Phe512Cys) n.4177T>G c.1139T>G (p.Phe380Cys) | gnomAD v4 |
| 20 | g.57565470T= | CA2371897585 | PCK1 | c.1535T= (p.Phe512=) n.4177T= c.1139T= (p.Phe380=) | |
| 20 | g.57565471C>A | CA409437385 | PCK1 | c.1536C>A (p.Phe512Leu) n.4178C>A c.1140C>A (p.Phe380Leu) | dbSNP |
| 20 | g.57565471C= | CA2371897586 | PCK1 | c.1536C= (p.Phe512=) n.4178C= c.1140C= (p.Phe380=) | |
| 20 | g.57565471C>G | CA409437384 | PCK1 | c.1536C>G (p.Phe512Leu) n.4178C>G c.1140C>G (p.Phe380Leu) | |
| 20 | g.57565471C>T | CA511311010 | PCK1 | c.1536C>T (p.Phe512=) n.4178C>T c.1140C>T (p.Phe380=) | dbSNP gnomAD v4 |
| 20 | g.57565472C>A | CA409437386 | PCK1 | c.1537C>A (p.His513Asn) n.4179C>A c.1141C>A (p.His381Asn) | dbSNP |
| 20 | g.57565472C= | CA2371897587 | PCK1 | c.1537C= (p.His513=) n.4179C= c.1141C= (p.His381=) | |
| 20 | g.57565472C>G | CA409437387 | PCK1 | c.1537C>G (p.His513Asp) n.4179C>G c.1141C>G (p.His381Asp) | |
| 20 | g.57565472C>T | CA10602380 | PCK1 | c.1537C>T (p.His513Tyr) n.4179C>T c.1141C>T (p.His381Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.57565473A>C | CA409437388 | PCK1 | c.1538A>C (p.His513Pro) n.4180A>C c.1142A>C (p.His381Pro) | |
| 20 | g.57565473A>G | CA409437389 | PCK1 | c.1538A>G (p.His513Arg) n.4180A>G c.1142A>G (p.His381Arg) | |
| 20 | g.57565473A>T | CA409437390 | PCK1 | c.1538A>T (p.His513Leu) n.4180A>T c.1142A>T (p.His381Leu) | |
| 20 | g.57565474T>A | CA409437391 | PCK1 | c.1539T>A (p.His513Gln) n.4181T>A c.1143T>A (p.His381Gln) | |
| 20 | g.57565474T>C | CA511311011 | PCK1 | c.1539T>C (p.His513=) n.4181T>C c.1143T>C (p.His381=) | dbSNP gnomAD v4 |
| 20 | g.57565474T>G | CA9922418 | PCK1 | c.1539T>G (p.His513Gln) n.4181T>G c.1143T>G (p.His381Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565474T= | CA2371897588 | PCK1 | c.1539T= (p.His513=) n.4181T= c.1143T= (p.His381=) | |
| 20 | g.57565475G>A | CA409437392 | PCK1 | c.1540G>A (p.Val514Ile) n.4182G>A c.1144G>A (p.Val382Ile) | |
| 20 | g.57565475G>C | CA409437393 | PCK1 | c.1540G>C (p.Val514Leu) n.4182G>C c.1144G>C (p.Val382Leu) | |
| 20 | g.57565475G>T | CA409437394 | PCK1 | c.1540G>T (p.Val514Phe) n.4182G>T c.1144G>T (p.Val382Phe) | |
| 20 | g.57565475_57565478dup | CA2653461896 | PCK1 | c.1540_1543dup (p.Asn515SerfsTer?) n.4182_4185dup c.1144_1147dup (p.Asn383SerfsTer?) | gnomAD v4 |
| 20 | g.57565476T>A | CA409437397 | PCK1 | c.1541T>A (p.Val514Asp) n.4183T>A c.1145T>A (p.Val382Asp) | |
| 20 | g.57565476T>C | CA409437395 | PCK1 | c.1541T>C (p.Val514Ala) n.4183T>C c.1145T>C (p.Val382Ala) | dbSNP |
| 20 | g.57565476T>G | CA409437396 | PCK1 | c.1541T>G (p.Val514Gly) n.4183T>G c.1145T>G (p.Val382Gly) | |
| 20 | g.57565477C>A | CA511311012 | PCK1 | c.1542C>A (p.Val514=) n.4184C>A c.1146C>A (p.Val382=) | |
| 20 | g.57565477C>G | CA511311013 | PCK1 | c.1542C>G (p.Val514=) n.4184C>G c.1146C>G (p.Val382=) | |
| 20 | g.57565477C>T | CA511311014 | PCK1 | c.1542C>T (p.Val514=) n.4184C>T c.1146C>T (p.Val382=) | |
| 20 | g.57565478A= | CA2371897589 | PCK1 | c.1543A= (p.Asn515=) n.4185A= c.1147A= (p.Asn383=) | |
| 20 | g.57565478A>C | CA409437398 | PCK1 | c.1543A>C (p.Asn515His) n.4185A>C c.1147A>C (p.Asn383His) | gnomAD v4 |
| 20 | g.57565478A>G | CA409437399 | PCK1 | c.1543A>G (p.Asn515Asp) n.4185A>G c.1147A>G (p.Asn383Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565478A>T | CA409437400 | PCK1 | c.1543A>T (p.Asn515Tyr) n.4185A>T c.1147A>T (p.Asn383Tyr) | |
| 20 | g.57565479A= | CA2371897590 | PCK1 | c.1544A= (p.Asn515=) n.4186A= c.1148A= (p.Asn383=) | |
| 20 | g.57565479A>C | CA9922419 | PCK1 | c.1544A>C (p.Asn515Thr) n.4186A>C c.1148A>C (p.Asn383Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565479A>G | CA409437401 | PCK1 | c.1544A>G (p.Asn515Ser) n.4186A>G c.1148A>G (p.Asn383Ser) | |
| 20 | g.57565479A>T | CA409437402 | PCK1 | c.1544A>T (p.Asn515Ile) n.4186A>T c.1148A>T (p.Asn383Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565480C>A | CA409437403 | PCK1 | c.1545C>A (p.Asn515Lys) n.4187C>A c.1149C>A (p.Asn383Lys) | |
| 20 | g.57565480C>G | CA409437404 | PCK1 | c.1545C>G (p.Asn515Lys) n.4187C>G c.1149C>G (p.Asn383Lys) | |
| 20 | g.57565480C>T | CA511311015 | PCK1 | c.1545C>T (p.Asn515=) n.4187C>T c.1149C>T (p.Asn383=) | |
| 20 | g.57565481T>A | CA409437405 | PCK1 | c.1546T>A (p.Trp516Arg) n.4188T>A c.1150T>A (p.Trp384Arg) | gnomAD v4 |
| 20 | g.57565481T>C | CA409437406 | PCK1 | c.1546T>C (p.Trp516Arg) n.4188T>C c.1150T>C (p.Trp384Arg) | |
| 20 | g.57565481T>G | CA409437407 | PCK1 | c.1546T>G (p.Trp516Gly) n.4188T>G c.1150T>G (p.Trp384Gly) | |
| 20 | g.57565482G>A | CA409437409 | PCK1 | c.1547G>A (p.Trp516Ter) n.4189G>A c.1151G>A (p.Trp384Ter) | dbSNP |
| 20 | g.57565482G>C | CA409437410 | PCK1 | c.1547G>C (p.Trp516Ser) n.4189G>C c.1151G>C (p.Trp384Ser) | |
| 20 | g.57565482G= | CA2371897591 | PCK1 | c.1547G= (p.Trp516=) n.4189G= c.1151G= (p.Trp384=) | |
| 20 | g.57565482G>T | CA409437408 | PCK1 | c.1547G>T (p.Trp516Leu) n.4189G>T c.1151G>T (p.Trp384Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565483G>A | CA409437411 | PCK1 | c.1548G>A (p.Trp516Ter) n.4190G>A c.1152G>A (p.Trp384Ter) | dbSNP |
| 20 | g.57565483G>C | CA409437412 | PCK1 | c.1548G>C (p.Trp516Cys) n.4190G>C c.1152G>C (p.Trp384Cys) | gnomAD v4 |
| 20 | g.57565483G>T | CA409437413 | PCK1 | c.1548G>T (p.Trp516Cys) n.4190G>T c.1152G>T (p.Trp384Cys) | |
| 20 | g.57565484T>A | CA409437414 | PCK1 | c.1549T>A (p.Phe517Ile) n.4191T>A c.1153T>A (p.Phe385Ile) | |
| 20 | g.57565484T>C | CA409437415 | PCK1 | c.1549T>C (p.Phe517Leu) n.4191T>C c.1153T>C (p.Phe385Leu) | |
| 20 | g.57565484T>G | CA409437416 | PCK1 | c.1549T>G (p.Phe517Val) n.4191T>G c.1153T>G (p.Phe385Val) | |
| 20 | g.57565485T>A | CA409437417 | PCK1 | c.1550T>A (p.Phe517Tyr) n.4192T>A c.1154T>A (p.Phe385Tyr) | dbSNP |
| 20 | g.57565485T>C | CA409437418 | PCK1 | c.1550T>C (p.Phe517Ser) n.4192T>C c.1154T>C (p.Phe385Ser) | |
| 20 | g.57565485T>G | CA409437419 | PCK1 | c.1550T>G (p.Phe517Cys) n.4192T>G c.1154T>G (p.Phe385Cys) | |
| 20 | g.57565486C>A | CA409437420 | PCK1 | c.1551C>A (p.Phe517Leu) n.4193C>A c.1155C>A (p.Phe385Leu) | |
| 20 | g.57565486C>G | CA409437421 | PCK1 | c.1551C>G (p.Phe517Leu) n.4193C>G c.1155C>G (p.Phe385Leu) | dbSNP |
| 20 | g.57565486C>T | CA511311016 | PCK1 | c.1551C>T (p.Phe517=) n.4193C>T c.1155C>T (p.Phe385=) | dbSNP |
| 20 | g.57565487C>A | CA511311017 | PCK1 | c.1552C>A (p.Arg518=) n.4194C>A c.1156C>A (p.Arg386=) | |
| 20 | g.57565487C= | CA2371897592 | PCK1 | c.1552C= (p.Arg518=) n.4194C= c.1156C= (p.Arg386=) | |
| 20 | g.57565487C>G | CA409437422 | PCK1 | c.1552C>G (p.Arg518Gly) n.4194C>G c.1156C>G (p.Arg386Gly) | dbSNP |
| 20 | g.57565487C>T | CA9922420 | PCK1 | c.1552C>T (p.Arg518Trp) n.4194C>T c.1156C>T (p.Arg386Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565488G>A | CA9922421 | PCK1 | c.1553G>A (p.Arg518Gln) n.4195G>A c.1157G>A (p.Arg386Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565488G>C | CA409437424 | PCK1 | c.1553G>C (p.Arg518Pro) n.4195G>C c.1157G>C (p.Arg386Pro) | |
| 20 | g.57565488G= | CA2371897593 | PCK1 | c.1553G= (p.Arg518=) n.4195G= c.1157G= (p.Arg386=) | |
| 20 | g.57565488G>T | CA409437423 | PCK1 | c.1553G>T (p.Arg518Leu) n.4195G>T c.1157G>T (p.Arg386Leu) | |
| 20 | g.57565489G>A | CA511311020 | PCK1 | c.1554G>A (p.Arg518=) n.4196G>A c.1158G>A (p.Arg386=) | |
| 20 | g.57565489G>C | CA511311019 | PCK1 | c.1554G>C (p.Arg518=) n.4196G>C c.1158G>C (p.Arg386=) | dbSNP |
| 20 | g.57565489G>T | CA511311018 | PCK1 | c.1554G>T (p.Arg518=) n.4196G>T c.1158G>T (p.Arg386=) | COSMIC |
| 20 | g.57565490A>C | CA409437425 | PCK1 | c.1555A>C (p.Lys519Gln) n.4197A>C c.1159A>C (p.Lys387Gln) | |
| 20 | g.57565490A>G | CA409437426 | PCK1 | c.1555A>G (p.Lys519Glu) n.4197A>G c.1159A>G (p.Lys387Glu) | |
| 20 | g.57565490A>T | CA409437427 | PCK1 | c.1555A>T (p.Lys519Ter) n.4197A>T c.1159A>T (p.Lys387Ter) | |
| 20 | g.57565491A>C | CA409437428 | PCK1 | c.1556A>C (p.Lys519Thr) n.4198A>C c.1160A>C (p.Lys387Thr) | |
| 20 | g.57565491A>G | CA409437429 | PCK1 | c.1556A>G (p.Lys519Arg) n.4198A>G c.1160A>G (p.Lys387Arg) | |
| 20 | g.57565491A>T | CA409437430 | PCK1 | c.1556A>T (p.Lys519Met) n.4198A>T c.1160A>T (p.Lys387Met) | |
| 20 | g.57565492G>A | CA511311021 | PCK1 | c.1557G>A (p.Lys519=) n.4199G>A c.1161G>A (p.Lys387=) | dbSNP COSMIC |
| 20 | g.57565492G>C | CA409437431 | PCK1 | c.1557G>C (p.Lys519Asn) n.4199G>C c.1161G>C (p.Lys387Asn) | |
| 20 | g.57565492G>T | CA409437432 | PCK1 | c.1557G>T (p.Lys519Asn) n.4199G>T c.1161G>T (p.Lys387Asn) | |
| 20 | g.57565493G>A | CA409437433 | PCK1 | c.1558G>A (p.Asp520Asn) n.4200G>A c.1162G>A (p.Asp388Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565493G>C | CA409437434 | PCK1 | c.1558G>C (p.Asp520His) n.4200G>C c.1162G>C (p.Asp388His) | |
| 20 | g.57565493G= | CA2371897594 | PCK1 | c.1558G= (p.Asp520=) n.4200G= c.1162G= (p.Asp388=) | |
| 20 | g.57565493G>T | CA409437435 | PCK1 | c.1558G>T (p.Asp520Tyr) n.4200G>T c.1162G>T (p.Asp388Tyr) | |
| 20 | g.57565494A= | CA2371897595 | PCK1 | c.1559A= (p.Asp520=) n.4201A= c.1163A= (p.Asp388=) | |
| 20 | g.57565494A>C | CA409437436 | PCK1 | c.1559A>C (p.Asp520Ala) n.4201A>C c.1163A>C (p.Asp388Ala) | dbSNP |
| 20 | g.57565494A>G | CA409437437 | PCK1 | c.1559A>G (p.Asp520Gly) n.4201A>G c.1163A>G (p.Asp388Gly) | |
| 20 | g.57565494A>T | CA409437438 | PCK1 | c.1559A>T (p.Asp520Val) n.4201A>T c.1163A>T (p.Asp388Val) | |
| 20 | g.57565495C>A | CA409437440 | PCK1 | c.1560C>A (p.Asp520Glu) n.4202C>A c.1164C>A (p.Asp388Glu) | |
| 20 | g.57565495C= | CA2371897596 | PCK1 | c.1560C= (p.Asp520=) n.4202C= c.1164C= (p.Asp388=) | |
| 20 | g.57565495C>G | CA409437439 | PCK1 | c.1560C>G (p.Asp520Glu) n.4202C>G c.1164C>G (p.Asp388Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565495C>T | CA511311022 | PCK1 | c.1560C>T (p.Asp520=) n.4202C>T c.1164C>T (p.Asp388=) | |
| 20 | g.57565496A= | CA2371897597 | PCK1 | c.1561A= (p.Lys521=) n.4203A= c.1165A= (p.Lys389=) | |
| 20 | g.57565496A>C | CA409437441 | PCK1 | c.1561A>C (p.Lys521Gln) n.4203A>C c.1165A>C (p.Lys389Gln) | |
| 20 | g.57565496A>G | CA409437443 | PCK1 | c.1561A>G (p.Lys521Glu) n.4203A>G c.1165A>G (p.Lys389Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565496A>T | CA409437442 | PCK1 | c.1561A>T (p.Lys521Ter) n.4203A>T c.1165A>T (p.Lys389Ter) | |
| 20 | g.57565497A>C | CA409437444 | PCK1 | c.1562A>C (p.Lys521Thr) n.4204A>C c.1166A>C (p.Lys389Thr) | |
| 20 | g.57565497A>G | CA409437446 | PCK1 | c.1562A>G (p.Lys521Arg) n.4204A>G c.1166A>G (p.Lys389Arg) | gnomAD v4 |
| 20 | g.57565497A>T | CA409437445 | PCK1 | c.1562A>T (p.Lys521Met) n.4204A>T c.1166A>T (p.Lys389Met) | |
| 20 | g.57565498G>A | CA9922422 | PCK1 | c.1563G>A (p.Lys521=) n.4205G>A c.1167G>A (p.Lys389=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565498G>C | CA409437447 | PCK1 | c.1563G>C (p.Lys521Asn) n.4205G>C c.1167G>C (p.Lys389Asn) | |
| 20 | g.57565498G= | CA2371897598 | PCK1 | c.1563G= (p.Lys521=) n.4205G= c.1167G= (p.Lys389=) | |
| 20 | g.57565498G>T | CA409437448 | PCK1 | c.1563G>T (p.Lys521Asn) n.4205G>T c.1167G>T (p.Lys389Asn) | |
| 20 | g.57565499G>A | CA409437449 | PCK1 | c.1564G>A (p.Glu522Lys) n.4206G>A c.1168G>A (p.Glu390Lys) | dbSNP |
| 20 | g.57565499G>C | CA409437450 | PCK1 | c.1564G>C (p.Glu522Gln) n.4206G>C c.1168G>C (p.Glu390Gln) | dbSNP |
| 20 | g.57565499G>T | CA409437451 | PCK1 | c.1564G>T (p.Glu522Ter) n.4206G>T c.1168G>T (p.Glu390Ter) | |
| 20 | g.57565500A= | CA2371897599 | PCK1 | c.1565A= (p.Glu522=) n.4207A= c.1169A= (p.Glu390=) | |
| 20 | g.57565500A>C | CA409437452 | PCK1 | c.1565A>C (p.Glu522Ala) n.4207A>C c.1169A>C (p.Glu390Ala) | |
| 20 | g.57565500A>G | CA409437453 | PCK1 | c.1565A>G (p.Glu522Gly) n.4207A>G c.1169A>G (p.Glu390Gly) | |
| 20 | g.57565500A>T | CA409437454 | PCK1 | c.1565A>T (p.Glu522Val) n.4207A>T c.1169A>T (p.Glu390Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565501A= | CA2371897600 | PCK1 | c.1566A= (p.Glu522=) n.4208A= c.1170A= (p.Glu390=) | |
| 20 | g.57565501A>C | CA409437455 | PCK1 | c.1566A>C (p.Glu522Asp) n.4208A>C c.1170A>C (p.Glu390Asp) | |
| 20 | g.57565501A>G | CA316282264 | PCK1 | c.1566A>G (p.Glu522=) n.4208A>G c.1170A>G (p.Glu390=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57565501A>T | CA409437456 | PCK1 | c.1566A>T (p.Glu522Asp) n.4208A>T c.1170A>T (p.Glu390Asp) | dbSNP |
| 20 | g.57565502G>A | CA409437459 | PCK1 | c.1567G>A (p.Gly523Ser) n.4209G>A c.1171G>A (p.Gly391Ser) | |
| 20 | g.57565502G>C | CA409437457 | PCK1 | c.1567G>C (p.Gly523Arg) n.4209G>C c.1171G>C (p.Gly391Arg) | |
| 20 | g.57565502G>T | CA409437458 | PCK1 | c.1567G>T (p.Gly523Cys) n.4209G>T c.1171G>T (p.Gly391Cys) | |
| 20 | g.57565503G>A | CA409437460 | PCK1 | c.1568G>A (p.Gly523Asp) n.4210G>A c.1172G>A (p.Gly391Asp) | dbSNP |
| 20 | g.57565503G>C | CA409437461 | PCK1 | c.1568G>C (p.Gly523Ala) n.4210G>C c.1172G>C (p.Gly391Ala) | |
| 20 | g.57565503G>T | CA409437462 | PCK1 | c.1568G>T (p.Gly523Val) n.4210G>T c.1172G>T (p.Gly391Val) | |
| 20 | g.57565504C>A | CA9922423 | PCK1 | c.1569C>A (p.Gly523=) n.4211C>A c.1173C>A (p.Gly391=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.57565504C= | CA2371897601 | PCK1 | c.1569C= (p.Gly523=) n.4211C= c.1173C= (p.Gly391=) | |
| 20 | g.57565504C>G | CA511311023 | PCK1 | c.1569C>G (p.Gly523=) n.4211C>G c.1173C>G (p.Gly391=) | dbSNP |
| 20 | g.57565504C>T | CA511311024 | PCK1 | c.1569C>T (p.Gly523=) n.4211C>T c.1173C>T (p.Gly391=) | |
| 20 | g.57565505A>C | CA409437463 | PCK1 | c.1570A>C (p.Lys524Gln) n.4212A>C c.1174A>C (p.Lys392Gln) | |
| 20 | g.57565505A>G | CA409437464 | PCK1 | c.1570A>G (p.Lys524Glu) n.4212A>G c.1174A>G (p.Lys392Glu) | |
| 20 | g.57565505A>T | CA409437465 | PCK1 | c.1570A>T (p.Lys524Ter) n.4212A>T c.1174A>T (p.Lys392Ter) | |
| 20 | g.57565506A>C | CA409437466 | PCK1 | c.1571A>C (p.Lys524Thr) n.4213A>C c.1175A>C (p.Lys392Thr) | |
| 20 | g.57565506A>G | CA409437467 | PCK1 | c.1571A>G (p.Lys524Arg) n.4213A>G c.1175A>G (p.Lys392Arg) | gnomAD v4 |
| 20 | g.57565506A>T | CA409437468 | PCK1 | c.1571A>T (p.Lys524Ile) n.4213A>T c.1175A>T (p.Lys392Ile) |