| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.57565556_57565571del | CA2653461900 | PCK1 | c.1621_1636del (p.Phe541GlufsTer10) n.4263_4278del c.1225_1240del (p.Phe409GlufsTer10) | gnomAD v4 |
| 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 |
| 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) |