Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155291840C>A | CA342750936 | PKLR | c.1534G>T (p.Val512Phe) c.1441G>T (p.Val481Phe) c.1693G>T (p.Val565Phe) c.1342G>T (p.Val448Phe) | |
1 | g.155291840C>G | CA342750934 | PKLR | c.1534G>C (p.Val512Leu) c.1441G>C (p.Val481Leu) c.1693G>C (p.Val565Leu) c.1342G>C (p.Val448Leu) | |
1 | g.155291840C>T | CA342750935 | PKLR | c.1534G>A (p.Val512Ile) c.1441G>A (p.Val481Ile) c.1693G>A (p.Val565Ile) c.1342G>A (p.Val448Ile) | |
1 | g.155291843_155291845del | CA2648267771 | PKLR | c.1532_1534del (p.Gly511del) c.1439_1441del (p.Gly480del) c.1691_1693del (p.Gly564del) c.1340_1342del (p.Gly447del) | gnomAD v4 |
1 | g.155291841T>A | CA421020168 | PKLR | c.1533A>T (p.Gly511=) c.1440A>T (p.Gly480=) c.1692A>T (p.Gly564=) c.1341A>T (p.Gly447=) | |
1 | g.155291841T>C | CA421020169 | PKLR | c.1533A>G (p.Gly511=) c.1440A>G (p.Gly480=) c.1692A>G (p.Gly564=) c.1341A>G (p.Gly447=) | |
1 | g.155291841T>G | CA421020170 | PKLR | c.1533A>C (p.Gly511=) c.1440A>C (p.Gly480=) c.1692A>C (p.Gly564=) c.1341A>C (p.Gly447=) | |
1 | g.155291842C>A | CA342750937 | PKLR | c.1532G>T (p.Gly511Val) c.1439G>T (p.Gly480Val) c.1691G>T (p.Gly564Val) c.1340G>T (p.Gly447Val) | |
1 | g.155291842C>G | CA342750939 | PKLR | c.1532G>C (p.Gly511Ala) c.1439G>C (p.Gly480Ala) c.1691G>C (p.Gly564Ala) c.1340G>C (p.Gly447Ala) | |
1 | g.155291842C>T | CA342750941 | PKLR | c.1532G>A (p.Gly511Glu) c.1439G>A (p.Gly480Glu) c.1691G>A (p.Gly564Glu) c.1340G>A (p.Gly447Glu) | |
1 | g.155291843C>A | CA342750946 | PKLR | c.1531G>T (p.Gly511Ter) c.1438G>T (p.Gly480Ter) c.1690G>T (p.Gly564Ter) c.1339G>T (p.Gly447Ter) | |
1 | g.155291843C= | CA2481225413 | PKLR | c.1531G= (p.Gly511=) c.1438G= (p.Gly480=) c.1690G= (p.Gly564=) c.1339G= (p.Gly447=) | |
1 | g.155291843C>G | CA342750951 | PKLR | c.1531G>C (p.Gly511Arg) c.1438G>C (p.Gly480Arg) c.1690G>C (p.Gly564Arg) c.1339G>C (p.Gly447Arg) | |
1 | g.155291843C>T | CA342750954 | PKLR | c.1531G>A (p.Gly511Arg) c.1438G>A (p.Gly480Arg) c.1690G>A (p.Gly564Arg) c.1339G>A (p.Gly447Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291844T>A | CA421020171 | PKLR | c.1530A>T (p.Arg510=) c.1437A>T (p.Arg479=) c.1689A>T (p.Arg563=) c.1338A>T (p.Arg446=) | |
1 | g.155291844T>C | CA421020172 | PKLR | c.1530A>G (p.Arg510=) c.1437A>G (p.Arg479=) c.1689A>G (p.Arg563=) c.1338A>G (p.Arg446=) | |
1 | g.155291844T>G | CA421020173 | PKLR | c.1530A>C (p.Arg510=) c.1437A>C (p.Arg479=) c.1689A>C (p.Arg563=) c.1338A>C (p.Arg446=) | |
1 | g.155291845C>A | CA342750962 | PKLR | c.1529G>T (p.Arg510Leu) c.1436G>T (p.Arg479Leu) c.1688G>T (p.Arg563Leu) c.1337G>T (p.Arg446Leu) | gnomAD v4 |
1 | g.155291845C= | CA1141334538 | PKLR | c.1529G= (p.Arg510=) c.1436G= (p.Arg479=) c.1688G= (p.Arg563=) c.1337G= (p.Arg446=) | |
1 | g.155291845C>G | CA342750964 | PKLR | c.1529G>C (p.Arg510Pro) c.1436G>C (p.Arg479Pro) c.1688G>C (p.Arg563Pro) c.1337G>C (p.Arg446Pro) | |
1 | g.155291845C>T | CA215079 | PKLR | c.1529G>A (p.Arg510Gln) c.1436G>A (p.Arg479Gln) c.1688G>A (p.Arg563Gln) c.1337G>A (p.Arg446Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155291846G>A | CA342750975 | PKLR | c.1528C>T (p.Arg510Ter) c.1435C>T (p.Arg479Ter) c.1687C>T (p.Arg563Ter) c.1336C>T (p.Arg446Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291846G>C | CA342750980 | PKLR | c.1528C>G (p.Arg510Gly) c.1435C>G (p.Arg479Gly) c.1687C>G (p.Arg563Gly) c.1336C>G (p.Arg446Gly) | gnomAD v4 |
1 | g.155291846G= | CA2481225414 | PKLR | c.1528C= (p.Arg510=) c.1435C= (p.Arg479=) c.1687C= (p.Arg563=) c.1336C= (p.Arg446=) | |
1 | g.155291846G>T | CA421020174 | PKLR | c.1528C>A (p.Arg510=) c.1435C>A (p.Arg479=) c.1687C>A (p.Arg563=) c.1336C>A (p.Arg446=) | |
1 | g.155291847G>A | CA421020175 | PKLR | c.1527C>T (p.Cys509=) c.1434C>T (p.Cys478=) c.1686C>T (p.Cys562=) c.1335C>T (p.Cys445=) | |
1 | g.155291847G>C | CA342750990 | PKLR | c.1527C>G (p.Cys509Trp) c.1434C>G (p.Cys478Trp) c.1686C>G (p.Cys562Trp) c.1335C>G (p.Cys445Trp) | |
1 | g.155291847G= | CA2481225415 | PKLR | c.1527C= (p.Cys509=) c.1434C= (p.Cys478=) c.1686C= (p.Cys562=) c.1335C= (p.Cys445=) | |
1 | g.155291847G>T | CA342750988 | PKLR | c.1527C>A (p.Cys509Ter) c.1434C>A (p.Cys478Ter) c.1686C>A (p.Cys562Ter) c.1335C>A (p.Cys445Ter) | dbSNP |
1 | g.155291848C>A | CA342750993 | PKLR | c.1526G>T (p.Cys509Phe) c.1433G>T (p.Cys478Phe) c.1685G>T (p.Cys562Phe) c.1334G>T (p.Cys445Phe) | |
1 | g.155291848C>G | CA342750995 | PKLR | c.1526G>C (p.Cys509Ser) c.1433G>C (p.Cys478Ser) c.1685G>C (p.Cys562Ser) c.1334G>C (p.Cys445Ser) | |
1 | g.155291848C>T | CA342751000 | PKLR | c.1526G>A (p.Cys509Tyr) c.1433G>A (p.Cys478Tyr) c.1685G>A (p.Cys562Tyr) c.1334G>A (p.Cys445Tyr) | |
1 | g.155291849A= | CA2481225416 | PKLR | c.1525T= (p.Cys509=) c.1432T= (p.Cys478=) c.1684T= (p.Cys562=) c.1333T= (p.Cys445=) | |
1 | g.155291849A>C | CA342751005 | PKLR | c.1525T>G (p.Cys509Gly) c.1432T>G (p.Cys478Gly) c.1684T>G (p.Cys562Gly) c.1333T>G (p.Cys445Gly) | |
1 | g.155291849A>G | CA30900280 | PKLR | c.1525T>C (p.Cys509Arg) c.1432T>C (p.Cys478Arg) c.1684T>C (p.Cys562Arg) c.1333T>C (p.Cys445Arg) | dbSNP gnomAD v4 |
1 | g.155291849A>T | CA342751021 | PKLR | c.1525T>A (p.Cys509Ser) c.1432T>A (p.Cys478Ser) c.1684T>A (p.Cys562Ser) c.1333T>A (p.Cys445Ser) | |
1 | g.155291850T>A | CA342751026 | PKLR | c.1524A>T (p.Leu508Phe) c.1431A>T (p.Leu477Phe) c.1683A>T (p.Leu561Phe) c.1332A>T (p.Leu444Phe) | |
1 | g.155291850T>C | CA421020176 | PKLR | c.1524A>G (p.Leu508=) c.1431A>G (p.Leu477=) c.1683A>G (p.Leu561=) c.1332A>G (p.Leu444=) | |
1 | g.155291850T>G | CA342751030 | PKLR | c.1524A>C (p.Leu508Phe) c.1431A>C (p.Leu477Phe) c.1683A>C (p.Leu561Phe) c.1332A>C (p.Leu444Phe) | |
1 | g.155291851A>C | CA342751035 | PKLR | c.1523T>G (p.Leu508Ter) c.1430T>G (p.Leu477Ter) c.1682T>G (p.Leu561Ter) c.1331T>G (p.Leu444Ter) | |
1 | g.155291851A>G | CA342751040 | PKLR | c.1523T>C (p.Leu508Ser) c.1430T>C (p.Leu477Ser) c.1682T>C (p.Leu561Ser) c.1331T>C (p.Leu444Ser) | |
1 | g.155291851A>T | CA342751041 | PKLR | c.1523T>A (p.Leu508Ter) c.1430T>A (p.Leu477Ter) c.1682T>A (p.Leu561Ter) c.1331T>A (p.Leu444Ter) | gnomAD v4 |
1 | g.155291852A>C | CA342751054 | PKLR | c.1522T>G (p.Leu508Val) c.1429T>G (p.Leu477Val) c.1681T>G (p.Leu561Val) c.1330T>G (p.Leu444Val) | |
1 | g.155291852A>G | CA421020177 | PKLR | c.1522T>C (p.Leu508=) c.1429T>C (p.Leu477=) c.1681T>C (p.Leu561=) c.1330T>C (p.Leu444=) | |
1 | g.155291852A>T | CA342751058 | PKLR | c.1522T>A (p.Leu508Ile) c.1429T>A (p.Leu477Ile) c.1681T>A (p.Leu561Ile) c.1330T>A (p.Leu444Ile) | |
1 | g.155291853G>A | CA1143972 | PKLR | c.1521C>T (p.His507=) c.1428C>T (p.His476=) c.1680C>T (p.His560=) c.1329C>T (p.His443=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291853G>C | CA342751062 | PKLR | c.1521C>G (p.His507Gln) c.1428C>G (p.His476Gln) c.1680C>G (p.His560Gln) c.1329C>G (p.His443Gln) | gnomAD v4 |
1 | g.155291853G= | CA1143455084 | PKLR | c.1521C= (p.His507=) c.1428C= (p.His476=) c.1680C= (p.His560=) c.1329C= (p.His443=) | |
1 | g.155291853G>T | CA342751068 | PKLR | c.1521C>A (p.His507Gln) c.1428C>A (p.His476Gln) c.1680C>A (p.His560Gln) c.1329C>A (p.His443Gln) | |
1 | g.155291854T>A | CA342751075 | PKLR | c.1520A>T (p.His507Leu) c.1427A>T (p.His476Leu) c.1679A>T (p.His560Leu) c.1328A>T (p.His443Leu) | |
1 | g.155291854T>C | CA342751077 | PKLR | c.1520A>G (p.His507Arg) c.1427A>G (p.His476Arg) c.1679A>G (p.His560Arg) c.1328A>G (p.His443Arg) | |
1 | g.155291854T>G | CA342751083 | PKLR | c.1520A>C (p.His507Pro) c.1427A>C (p.His476Pro) c.1679A>C (p.His560Pro) c.1328A>C (p.His443Pro) | |
1 | g.155291855G>A | CA342751088 | PKLR | c.1519C>T (p.His507Tyr) c.1426C>T (p.His476Tyr) c.1678C>T (p.His560Tyr) c.1327C>T (p.His443Tyr) | gnomAD v4 |
1 | g.155291855G>C | CA342751089 | PKLR | c.1519C>G (p.His507Asp) c.1426C>G (p.His476Asp) c.1678C>G (p.His560Asp) c.1327C>G (p.His443Asp) | |
1 | g.155291855G= | CA2481225417 | PKLR | c.1519C= (p.His507=) c.1426C= (p.His476=) c.1678C= (p.His560=) c.1327C= (p.His443=) | |
1 | g.155291855G>T | CA1143973 | PKLR | c.1519C>A (p.His507Asn) c.1426C>A (p.His476Asn) c.1678C>A (p.His560Asn) c.1327C>A (p.His443Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291856G>A | CA1143974 | PKLR | c.1518C>T (p.Val506=) c.1425C>T (p.Val475=) c.1677C>T (p.Val559=) c.1326C>T (p.Val442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291856G>C | CA421020178 | PKLR | c.1518C>G (p.Val506=) c.1425C>G (p.Val475=) c.1677C>G (p.Val559=) c.1326C>G (p.Val442=) | |
1 | g.155291856G= | CA1144102829 | PKLR | c.1518C= (p.Val506=) c.1425C= (p.Val475=) c.1677C= (p.Val559=) c.1326C= (p.Val442=) | |
1 | g.155291856G>T | CA421020179 | PKLR | c.1518C>A (p.Val506=) c.1425C>A (p.Val475=) c.1677C>A (p.Val559=) c.1326C>A (p.Val442=) | |
1 | g.155291856_155291859dup | CA2586967520 | PKLR | c.1515_1518dup (p.His507GlyfsTer14) c.1422_1425dup (p.His476GlyfsTer14) c.1674_1677dup (p.His560GlyfsTer14) c.1323_1326dup (p.His443GlyfsTer14) | |
1 | g.155291857A= | CA2481225418 | PKLR | c.1517T= (p.Val506=) c.1424T= (p.Val475=) c.1676T= (p.Val559=) c.1325T= (p.Val442=) | |
1 | g.155291857A>C | CA342751092 | PKLR | c.1517T>G (p.Val506Gly) c.1424T>G (p.Val475Gly) c.1676T>G (p.Val559Gly) c.1325T>G (p.Val442Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291857A>G | CA342751093 | PKLR | c.1517T>C (p.Val506Ala) c.1424T>C (p.Val475Ala) c.1676T>C (p.Val559Ala) c.1325T>C (p.Val442Ala) | |
1 | g.155291857A>T | CA342751094 | PKLR | c.1517T>A (p.Val506Asp) c.1424T>A (p.Val475Asp) c.1676T>A (p.Val559Asp) c.1325T>A (p.Val442Asp) | |
1 | g.155291858C>A | CA342751097 | PKLR | c.1516G>T (p.Val506Phe) c.1423G>T (p.Val475Phe) c.1675G>T (p.Val559Phe) c.1324G>T (p.Val442Phe) | gnomAD v4 |
1 | g.155291858C= | CA1140163004 | PKLR | c.1516G= (p.Val506=) c.1423G= (p.Val475=) c.1675G= (p.Val559=) c.1324G= (p.Val442=) | |
1 | g.155291858C>G | CA342751099 | PKLR | c.1516G>C (p.Val506Leu) c.1423G>C (p.Val475Leu) c.1675G>C (p.Val559Leu) c.1324G>C (p.Val442Leu) | |
1 | g.155291858C>T | CA1143975 | PKLR | c.1516G>A (p.Val506Ile) c.1423G>A (p.Val475Ile) c.1675G>A (p.Val559Ile) c.1324G>A (p.Val442Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291859C>A | CA342751105 | PKLR | c.1515G>T (p.Gln505His) c.1422G>T (p.Gln474His) c.1674G>T (p.Gln558His) c.1323G>T (p.Gln441His) | |
1 | g.155291859C>G | CA342751106 | PKLR | c.1515G>C (p.Gln505His) c.1422G>C (p.Gln474His) c.1674G>C (p.Gln558His) c.1323G>C (p.Gln441His) | |
1 | g.155291859C>T | CA421020180 | PKLR | c.1515G>A (p.Gln505=) c.1422G>A (p.Gln474=) c.1674G>A (p.Gln558=) c.1323G>A (p.Gln441=) | gnomAD v4 |
1 | g.155291860T>A | CA342751108 | PKLR | c.1514A>T (p.Gln505Leu) c.1421A>T (p.Gln474Leu) c.1673A>T (p.Gln558Leu) c.1322A>T (p.Gln441Leu) | |
1 | g.155291860T>C | CA342751111 | PKLR | c.1514A>G (p.Gln505Arg) c.1421A>G (p.Gln474Arg) c.1673A>G (p.Gln558Arg) c.1322A>G (p.Gln441Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291860T>G | CA342751110 | PKLR | c.1514A>C (p.Gln505Pro) c.1421A>C (p.Gln474Pro) c.1673A>C (p.Gln558Pro) c.1322A>C (p.Gln441Pro) | |
1 | g.155291860T= | CA2481225419 | PKLR | c.1514A= (p.Gln505=) c.1421A= (p.Gln474=) c.1673A= (p.Gln558=) c.1322A= (p.Gln441=) | |
1 | g.155291861G>A | CA342751112 | PKLR | c.1513C>T (p.Gln505Ter) c.1420C>T (p.Gln474Ter) c.1672C>T (p.Gln558Ter) c.1321C>T (p.Gln441Ter) | |
1 | g.155291861G>C | CA342751114 | PKLR | c.1513C>G (p.Gln505Glu) c.1420C>G (p.Gln474Glu) c.1672C>G (p.Gln558Glu) c.1321C>G (p.Gln441Glu) | gnomAD v4 |
1 | g.155291861G>T | CA342751113 | PKLR | c.1513C>A (p.Gln505Lys) c.1420C>A (p.Gln474Lys) c.1672C>A (p.Gln558Lys) c.1321C>A (p.Gln441Lys) | |
1 | g.155291862G>A | CA421020181 | PKLR | c.1512C>T (p.Arg504=) c.1419C>T (p.Arg473=) c.1671C>T (p.Arg557=) c.1320C>T (p.Arg440=) | |
1 | g.155291862G>C | CA421020182 | PKLR | c.1512C>G (p.Arg504=) c.1419C>G (p.Arg473=) c.1671C>G (p.Arg557=) c.1320C>G (p.Arg440=) | |
1 | g.155291862G= | CA2481225420 | PKLR | c.1512C= (p.Arg504=) c.1419C= (p.Arg473=) c.1671C= (p.Arg557=) c.1320C= (p.Arg440=) | |
1 | g.155291862G>T | CA1143976 | PKLR | c.1512C>A (p.Arg504=) c.1419C>A (p.Arg473=) c.1671C>A (p.Arg557=) c.1320C>A (p.Arg440=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291863C>A | CA1143977 | PKLR | c.1511G>T (p.Arg504Leu) c.1418G>T (p.Arg473Leu) c.1670G>T (p.Arg557Leu) c.1319G>T (p.Arg440Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.155291863C= | CA1142796816 | PKLR | c.1511G= (p.Arg504=) c.1418G= (p.Arg473=) c.1670G= (p.Arg557=) c.1319G= (p.Arg440=) | |
1 | g.155291863C>G | CA342751118 | PKLR | c.1511G>C (p.Arg504Pro) c.1418G>C (p.Arg473Pro) c.1670G>C (p.Arg557Pro) c.1319G>C (p.Arg440Pro) | |
1 | g.155291863C>T | CA342751122 | PKLR | c.1511G>A (p.Arg504His) c.1418G>A (p.Arg473His) c.1670G>A (p.Arg557His) c.1319G>A (p.Arg440His) | ClinVar dbSNP gnomAD v4 |
1 | g.155291864G>A | CA30900305 | PKLR | c.1510C>T (p.Arg504Cys) c.1417C>T (p.Arg473Cys) c.1669C>T (p.Arg557Cys) c.1318C>T (p.Arg440Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291864G>C | CA342751124 | PKLR | c.1510C>G (p.Arg504Gly) c.1417C>G (p.Arg473Gly) c.1669C>G (p.Arg557Gly) c.1318C>G (p.Arg440Gly) | |
1 | g.155291864G= | CA2481225421 | PKLR | c.1510C= (p.Arg504=) c.1417C= (p.Arg473=) c.1669C= (p.Arg557=) c.1318C= (p.Arg440=) | |
1 | g.155291864G>T | CA342751125 | PKLR | c.1510C>A (p.Arg504Ser) c.1417C>A (p.Arg473Ser) c.1669C>A (p.Arg557Ser) c.1318C>A (p.Arg440Ser) | |
1 | g.155291865G>A | CA421020183 | PKLR | c.1509C>T (p.Ala503=) c.1416C>T (p.Ala472=) c.1668C>T (p.Ala556=) c.1317C>T (p.Ala439=) | |
1 | g.155291865G>C | CA421020184 | PKLR | c.1509C>G (p.Ala503=) c.1416C>G (p.Ala472=) c.1668C>G (p.Ala556=) c.1317C>G (p.Ala439=) | |
1 | g.155291865G>T | CA421020185 | PKLR | c.1509C>A (p.Ala503=) c.1416C>A (p.Ala472=) c.1668C>A (p.Ala556=) c.1317C>A (p.Ala439=) | |
1 | g.155291866G>A | CA1143978 | PKLR | c.1508C>T (p.Ala503Val) c.1415C>T (p.Ala472Val) c.1667C>T (p.Ala556Val) c.1316C>T (p.Ala439Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291866G>C | CA342751132 | PKLR | c.1508C>G (p.Ala503Gly) c.1415C>G (p.Ala472Gly) c.1667C>G (p.Ala556Gly) c.1316C>G (p.Ala439Gly) | |
1 | g.155291866G= | CA2481225422 | PKLR | c.1508C= (p.Ala503=) c.1415C= (p.Ala472=) c.1667C= (p.Ala556=) c.1316C= (p.Ala439=) | |
1 | g.155291866G>T | CA342751127 | PKLR | c.1508C>A (p.Ala503Asp) c.1415C>A (p.Ala472Asp) c.1667C>A (p.Ala556Asp) c.1316C>A (p.Ala439Asp) | |
1 | g.155291867C>A | CA342751139 | PKLR | c.1507G>T (p.Ala503Ser) c.1414G>T (p.Ala472Ser) c.1666G>T (p.Ala556Ser) c.1315G>T (p.Ala439Ser) | |
1 | g.155291867C= | CA2481225423 | PKLR | c.1507G= (p.Ala503=) c.1414G= (p.Ala472=) c.1666G= (p.Ala556=) c.1315G= (p.Ala439=) | |
1 | g.155291867C>G | CA342751140 | PKLR | c.1507G>C (p.Ala503Pro) c.1414G>C (p.Ala472Pro) c.1666G>C (p.Ala556Pro) c.1315G>C (p.Ala439Pro) | |
1 | g.155291867C>T | CA342751144 | PKLR | c.1507G>A (p.Ala503Thr) c.1414G>A (p.Ala472Thr) c.1666G>A (p.Ala556Thr) c.1315G>A (p.Ala439Thr) | dbSNP gnomAD v2 |
1 | g.155291871_155291891del | CA2648267826 | PKLR | c.1487_1507del (p.Val496_Ala502del) c.1394_1414del (p.Val465_Ala471del) c.1646_1666del (p.Val549_Ala555del) c.1295_1315del (p.Val432_Ala438del) | gnomAD v4 |
1 | g.155291868A>C | CA421020186 | PKLR | c.1506T>G (p.Ala502=) c.1413T>G (p.Ala471=) c.1665T>G (p.Ala555=) c.1314T>G (p.Ala438=) | |
1 | g.155291868A>G | CA421020187 | PKLR | c.1506T>C (p.Ala502=) c.1413T>C (p.Ala471=) c.1665T>C (p.Ala555=) c.1314T>C (p.Ala438=) | |
1 | g.155291868A>T | CA421020188 | PKLR | c.1506T>A (p.Ala502=) c.1413T>A (p.Ala471=) c.1665T>A (p.Ala555=) c.1314T>A (p.Ala438=) | |
1 | g.155291869G>A | CA342751148 | PKLR | c.1505C>T (p.Ala502Val) c.1412C>T (p.Ala471Val) c.1664C>T (p.Ala555Val) c.1313C>T (p.Ala438Val) | |
1 | g.155291869G>C | CA342751152 | PKLR | c.1505C>G (p.Ala502Gly) c.1412C>G (p.Ala471Gly) c.1664C>G (p.Ala555Gly) c.1313C>G (p.Ala438Gly) | |
1 | g.155291869G>T | CA342751154 | PKLR | c.1505C>A (p.Ala502Asp) c.1412C>A (p.Ala471Asp) c.1664C>A (p.Ala555Asp) c.1313C>A (p.Ala438Asp) | |
1 | g.155291870C>A | CA342751158 | PKLR | c.1504G>T (p.Ala502Ser) c.1411G>T (p.Ala471Ser) c.1663G>T (p.Ala555Ser) c.1312G>T (p.Ala438Ser) | |
1 | g.155291870C>G | CA342751165 | PKLR | c.1504G>C (p.Ala502Pro) c.1411G>C (p.Ala471Pro) c.1663G>C (p.Ala555Pro) c.1312G>C (p.Ala438Pro) | |
1 | g.155291870C>T | CA342751162 | PKLR | c.1504G>A (p.Ala502Thr) c.1411G>A (p.Ala471Thr) c.1663G>A (p.Ala555Thr) c.1312G>A (p.Ala438Thr) | |
1 | g.155291871C>A | CA342751169 | PKLR | c.1503G>T (p.Gln501His) c.1410G>T (p.Gln470His) c.1662G>T (p.Gln554His) c.1311G>T (p.Gln437His) | |
1 | g.155291871C>G | CA342751180 | PKLR | c.1503G>C (p.Gln501His) c.1410G>C (p.Gln470His) c.1662G>C (p.Gln554His) c.1311G>C (p.Gln437His) | |
1 | g.155291871C>T | CA421020189 | PKLR | c.1503G>A (p.Gln501=) c.1410G>A (p.Gln470=) c.1662G>A (p.Gln554=) c.1311G>A (p.Gln437=) | |
1 | g.155291872T>A | CA342751184 | PKLR | c.1502A>T (p.Gln501Leu) c.1409A>T (p.Gln470Leu) c.1661A>T (p.Gln554Leu) c.1310A>T (p.Gln437Leu) | |
1 | g.155291872T>C | CA342751185 | PKLR | c.1502A>G (p.Gln501Arg) c.1409A>G (p.Gln470Arg) c.1661A>G (p.Gln554Arg) c.1310A>G (p.Gln437Arg) | |
1 | g.155291872T>G | CA342751186 | PKLR | c.1502A>C (p.Gln501Pro) c.1409A>C (p.Gln470Pro) c.1661A>C (p.Gln554Pro) c.1310A>C (p.Gln437Pro) | |
1 | g.155291873G>A | CA342751189 | PKLR | c.1501C>T (p.Gln501Ter) c.1408C>T (p.Gln470Ter) c.1660C>T (p.Gln554Ter) c.1309C>T (p.Gln437Ter) | |
1 | g.155291873G>C | CA342751191 | PKLR | c.1501C>G (p.Gln501Glu) c.1408C>G (p.Gln470Glu) c.1660C>G (p.Gln554Glu) c.1309C>G (p.Gln437Glu) | |
1 | g.155291873G>T | CA342751194 | PKLR | c.1501C>A (p.Gln501Lys) c.1408C>A (p.Gln470Lys) c.1660C>A (p.Gln554Lys) c.1309C>A (p.Gln437Lys) | |
1 | g.155291874G>A | CA421020192 | PKLR | c.1500C>T (p.Ala500=) c.1407C>T (p.Ala469=) c.1659C>T (p.Ala553=) c.1308C>T (p.Ala436=) | gnomAD v4 |
1 | g.155291874G>C | CA421020190 | PKLR | c.1500C>G (p.Ala500=) c.1407C>G (p.Ala469=) c.1659C>G (p.Ala553=) c.1308C>G (p.Ala436=) | gnomAD v4 |
1 | g.155291874G>T | CA421020191 | PKLR | c.1500C>A (p.Ala500=) c.1407C>A (p.Ala469=) c.1659C>A (p.Ala553=) c.1308C>A (p.Ala436=) | |
1 | g.155291875G>A | CA342751196 | PKLR | c.1499C>T (p.Ala500Val) c.1406C>T (p.Ala469Val) c.1658C>T (p.Ala553Val) c.1307C>T (p.Ala436Val) | |
1 | g.155291875G>C | CA342751197 | PKLR | c.1499C>G (p.Ala500Gly) c.1406C>G (p.Ala469Gly) c.1658C>G (p.Ala553Gly) c.1307C>G (p.Ala436Gly) | |
1 | g.155291875G>T | CA342751200 | PKLR | c.1499C>A (p.Ala500Asp) c.1406C>A (p.Ala469Asp) c.1658C>A (p.Ala553Asp) c.1307C>A (p.Ala436Asp) | |
1 | g.155291876C>A | CA342751203 | PKLR | c.1498G>T (p.Ala500Ser) c.1405G>T (p.Ala469Ser) c.1657G>T (p.Ala553Ser) c.1306G>T (p.Ala436Ser) | |
1 | g.155291876C>G | CA342751206 | PKLR | c.1498G>C (p.Ala500Pro) c.1405G>C (p.Ala469Pro) c.1657G>C (p.Ala553Pro) c.1306G>C (p.Ala436Pro) | |
1 | g.155291876C>T | CA342751205 | PKLR | c.1498G>A (p.Ala500Thr) c.1405G>A (p.Ala469Thr) c.1657G>A (p.Ala553Thr) c.1306G>A (p.Ala436Thr) | gnomAD v4 |
1 | g.155291877A>C | CA421020193 | PKLR | c.1497T>G (p.Ser499=) c.1404T>G (p.Ser468=) c.1656T>G (p.Ser552=) c.1305T>G (p.Ser435=) | |
1 | g.155291877A>G | CA421020195 | PKLR | c.1497T>C (p.Ser499=) c.1404T>C (p.Ser468=) c.1656T>C (p.Ser552=) c.1305T>C (p.Ser435=) | |
1 | g.155291877A>T | CA421020194 | PKLR | c.1497T>A (p.Ser499=) c.1404T>A (p.Ser468=) c.1656T>A (p.Ser552=) c.1305T>A (p.Ser435=) | |
1 | g.155291878G>A | CA342751209 | PKLR | c.1496C>T (p.Ser499Phe) c.1403C>T (p.Ser468Phe) c.1655C>T (p.Ser552Phe) c.1304C>T (p.Ser435Phe) | COSMIC |
1 | g.155291878G>C | CA342751210 | PKLR | c.1496C>G (p.Ser499Cys) c.1403C>G (p.Ser468Cys) c.1655C>G (p.Ser552Cys) c.1304C>G (p.Ser435Cys) | |
1 | g.155291878G>T | CA342751212 | PKLR | c.1496C>A (p.Ser499Tyr) c.1403C>A (p.Ser468Tyr) c.1655C>A (p.Ser552Tyr) c.1304C>A (p.Ser435Tyr) | |
1 | g.155291879A>C | CA342751213 | PKLR | c.1495T>G (p.Ser499Ala) c.1402T>G (p.Ser468Ala) c.1654T>G (p.Ser552Ala) c.1303T>G (p.Ser435Ala) | |
1 | g.155291879A>G | CA342751214 | PKLR | c.1495T>C (p.Ser499Pro) c.1402T>C (p.Ser468Pro) c.1654T>C (p.Ser552Pro) c.1303T>C (p.Ser435Pro) | |
1 | g.155291879A>T | CA342751216 | PKLR | c.1495T>A (p.Ser499Thr) c.1402T>A (p.Ser468Thr) c.1654T>A (p.Ser552Thr) c.1303T>A (p.Ser435Thr) | |
1 | g.155291880G>A | CA421020196 | PKLR | c.1494C>T (p.Arg498=) c.1401C>T (p.Arg467=) c.1653C>T (p.Arg551=) c.1302C>T (p.Arg434=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155291880G>C | CA421020197 | PKLR | c.1494C>G (p.Arg498=) c.1401C>G (p.Arg467=) c.1653C>G (p.Arg551=) c.1302C>G (p.Arg434=) | |
1 | g.155291880G= | CA2481225424 | PKLR | c.1494C= (p.Arg498=) c.1401C= (p.Arg467=) c.1653C= (p.Arg551=) c.1302C= (p.Arg434=) | |
1 | g.155291880G>T | CA421020198 | PKLR | c.1494C>A (p.Arg498=) c.1401C>A (p.Arg467=) c.1653C>A (p.Arg551=) c.1302C>A (p.Arg434=) | |
1 | g.155291881C>A | CA342751218 | PKLR | c.1493G>T (p.Arg498Leu) c.1400G>T (p.Arg467Leu) c.1652G>T (p.Arg551Leu) c.1301G>T (p.Arg434Leu) | |
1 | g.155291881C= | CA2481225425 | PKLR | c.1493G= (p.Arg498=) c.1400G= (p.Arg467=) c.1652G= (p.Arg551=) c.1301G= (p.Arg434=) | |
1 | g.155291881C>G | CA342751219 | PKLR | c.1493G>C (p.Arg498Pro) c.1400G>C (p.Arg467Pro) c.1652G>C (p.Arg551Pro) c.1301G>C (p.Arg434Pro) | |
1 | g.155291881C>T | CA1143979 | PKLR | c.1493G>A (p.Arg498His) c.1400G>A (p.Arg467His) c.1652G>A (p.Arg551His) c.1301G>A (p.Arg434His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155291882G>A | CA1143981 | PKLR | c.1492C>T (p.Arg498Cys) c.1399C>T (p.Arg467Cys) c.1651C>T (p.Arg551Cys) c.1300C>T (p.Arg434Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291882G>C | CA342751223 | PKLR | c.1492C>G (p.Arg498Gly) c.1399C>G (p.Arg467Gly) c.1651C>G (p.Arg551Gly) c.1300C>G (p.Arg434Gly) | |
1 | g.155291882G= | CA1146112422 | PKLR | c.1492C= (p.Arg498=) c.1399C= (p.Arg467=) c.1651C= (p.Arg551=) c.1300C= (p.Arg434=) | |
1 | g.155291882G>T | CA1143980 | PKLR | c.1492C>A (p.Arg498Ser) c.1399C>A (p.Arg467Ser) c.1651C>A (p.Arg551Ser) c.1300C>A (p.Arg434Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291883G>A | CA1143982 | PKLR | c.1491C>T (p.Thr497=) c.1398C>T (p.Thr466=) c.1650C>T (p.Thr550=) c.1299C>T (p.Thr433=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291883G>C | CA421020199 | PKLR | c.1491C>G (p.Thr497=) c.1398C>G (p.Thr466=) c.1650C>G (p.Thr550=) c.1299C>G (p.Thr433=) | |
1 | g.155291883G= | CA2481225426 | PKLR | c.1491C= (p.Thr497=) c.1398C= (p.Thr466=) c.1650C= (p.Thr550=) c.1299C= (p.Thr433=) | |
1 | g.155291883G>T | CA421020200 | PKLR | c.1491C>A (p.Thr497=) c.1398C>A (p.Thr466=) c.1650C>A (p.Thr550=) c.1299C>A (p.Thr433=) | |
1 | g.155291884G>A | CA342751228 | PKLR | c.1490C>T (p.Thr497Ile) c.1397C>T (p.Thr466Ile) c.1649C>T (p.Thr550Ile) c.1298C>T (p.Thr433Ile) | |
1 | g.155291884G>C | CA342751230 | PKLR | c.1490C>G (p.Thr497Ser) c.1397C>G (p.Thr466Ser) c.1649C>G (p.Thr550Ser) c.1298C>G (p.Thr433Ser) | |
1 | g.155291884G= | CA2481225427 | PKLR | c.1490C= (p.Thr497=) c.1397C= (p.Thr466=) c.1649C= (p.Thr550=) c.1298C= (p.Thr433=) | |
1 | g.155291884G>T | CA342751232 | PKLR | c.1490C>A (p.Thr497Asn) c.1397C>A (p.Thr466Asn) c.1649C>A (p.Thr550Asn) c.1298C>A (p.Thr433Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291885T>A | CA342751233 | PKLR | c.1489A>T (p.Thr497Ser) c.1396A>T (p.Thr466Ser) c.1648A>T (p.Thr550Ser) c.1297A>T (p.Thr433Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291885T>C | CA342751235 | PKLR | c.1489A>G (p.Thr497Ala) c.1396A>G (p.Thr466Ala) c.1648A>G (p.Thr550Ala) c.1297A>G (p.Thr433Ala) | |
1 | g.155291885T>G | CA342751237 | PKLR | c.1489A>C (p.Thr497Pro) c.1396A>C (p.Thr466Pro) c.1648A>C (p.Thr550Pro) c.1297A>C (p.Thr433Pro) | |
1 | g.155291885T= | CA2481225428 | PKLR | c.1489A= (p.Thr497=) c.1396A= (p.Thr466=) c.1648A= (p.Thr550=) c.1297A= (p.Thr433=) | |
1 | g.155291886del | CA2586967521 | PKLR | c.1488del (p.Thr497ProfsTer?) c.1395del (p.Thr466ProfsTer?) c.1647del (p.Thr550ProfsTer?) c.1296del (p.Thr433ProfsTer?) | |
1 | g.155291886G>A | CA421020201 | PKLR | c.1488C>T (p.Val496=) c.1395C>T (p.Val465=) c.1647C>T (p.Val549=) c.1296C>T (p.Val432=) | dbSNP gnomAD v4 |
1 | g.155291886G>C | CA421020202 | PKLR | c.1488C>G (p.Val496=) c.1395C>G (p.Val465=) c.1647C>G (p.Val549=) c.1296C>G (p.Val432=) | |
1 | g.155291886G= | CA2481225429 | PKLR | c.1488C= (p.Val496=) c.1395C= (p.Val465=) c.1647C= (p.Val549=) c.1296C= (p.Val432=) | |
1 | g.155291886G>T | CA421020203 | PKLR | c.1488C>A (p.Val496=) c.1395C>A (p.Val465=) c.1647C>A (p.Val549=) c.1296C>A (p.Val432=) | |
1 | g.155291887A>C | CA342751240 | PKLR | c.1487T>G (p.Val496Gly) c.1394T>G (p.Val465Gly) c.1646T>G (p.Val549Gly) c.1295T>G (p.Val432Gly) | |
1 | g.155291887A>G | CA342751241 | PKLR | c.1487T>C (p.Val496Ala) c.1394T>C (p.Val465Ala) c.1646T>C (p.Val549Ala) c.1295T>C (p.Val432Ala) | |
1 | g.155291887A>T | CA342751242 | PKLR | c.1487T>A (p.Val496Asp) c.1394T>A (p.Val465Asp) c.1646T>A (p.Val549Asp) c.1295T>A (p.Val432Asp) | |
1 | g.155291888C>A | CA342751245 | PKLR | c.1486G>T (p.Val496Phe) c.1393G>T (p.Val465Phe) c.1645G>T (p.Val549Phe) c.1294G>T (p.Val432Phe) | |
1 | g.155291888C>G | CA342751246 | PKLR | c.1486G>C (p.Val496Leu) c.1393G>C (p.Val465Leu) c.1645G>C (p.Val549Leu) c.1294G>C (p.Val432Leu) | |
1 | g.155291888C>T | CA342751247 | PKLR | c.1486G>A (p.Val496Ile) c.1393G>A (p.Val465Ile) c.1645G>A (p.Val549Ile) c.1294G>A (p.Val432Ile) | |
1 | g.155291889A>C | CA421020204 | PKLR | c.1485T>G (p.Ala495=) c.1392T>G (p.Ala464=) c.1644T>G (p.Ala548=) c.1293T>G (p.Ala431=) | |
1 | g.155291889A>G | CA421020205 | PKLR | c.1485T>C (p.Ala495=) c.1392T>C (p.Ala464=) c.1644T>C (p.Ala548=) c.1293T>C (p.Ala431=) | |
1 | g.155291889A>T | CA421020206 | PKLR | c.1485T>A (p.Ala495=) c.1392T>A (p.Ala464=) c.1644T>A (p.Ala548=) c.1293T>A (p.Ala431=) | |
1 | g.155291890G>A | CA1143983 | PKLR | c.1484C>T (p.Ala495Val) c.1391C>T (p.Ala464Val) c.1643C>T (p.Ala548Val) c.1292C>T (p.Ala431Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291890G>C | CA342751251 | PKLR | c.1484C>G (p.Ala495Gly) c.1391C>G (p.Ala464Gly) c.1643C>G (p.Ala548Gly) c.1292C>G (p.Ala431Gly) | |
1 | g.155291890G= | CA1141812539 | PKLR | c.1484C= (p.Ala495=) c.1391C= (p.Ala464=) c.1643C= (p.Ala548=) c.1292C= (p.Ala431=) | |
1 | g.155291890G>T | CA342751249 | PKLR | c.1484C>A (p.Ala495Asp) c.1391C>A (p.Ala464Asp) c.1643C>A (p.Ala548Asp) c.1292C>A (p.Ala431Asp) | |
1 | g.155291891C>A | CA342751256 | PKLR | c.1483G>T (p.Ala495Ser) c.1390G>T (p.Ala464Ser) c.1642G>T (p.Ala548Ser) c.1291G>T (p.Ala431Ser) | gnomAD v4 |
1 | g.155291891C>G | CA342751253 | PKLR | c.1483G>C (p.Ala495Pro) c.1390G>C (p.Ala464Pro) c.1642G>C (p.Ala548Pro) c.1291G>C (p.Ala431Pro) | |
1 | g.155291891C>T | CA342751255 | PKLR | c.1483G>A (p.Ala495Thr) c.1390G>A (p.Ala464Thr) c.1642G>A (p.Ala548Thr) c.1291G>A (p.Ala431Thr) | ClinVar gnomAD v4 |
1 | g.155291892A>C | CA342751258 | PKLR | c.1482T>G (p.Ile494Met) c.1389T>G (p.Ile463Met) c.1641T>G (p.Ile547Met) c.1290T>G (p.Ile430Met) | |
1 | g.155291892A>G | CA421020208 | PKLR | c.1482T>C (p.Ile494=) c.1389T>C (p.Ile463=) c.1641T>C (p.Ile547=) c.1290T>C (p.Ile430=) | |
1 | g.155291892A>T | CA421020207 | PKLR | c.1482T>A (p.Ile494=) c.1389T>A (p.Ile463=) c.1641T>A (p.Ile547=) c.1290T>A (p.Ile430=) | |
1 | g.155291893A= | CA2481225430 | PKLR | c.1481T= (p.Ile494=) c.1388T= (p.Ile463=) c.1640T= (p.Ile547=) c.1289T= (p.Ile430=) | |
1 | g.155291893A>C | CA342751261 | PKLR | c.1481T>G (p.Ile494Ser) c.1388T>G (p.Ile463Ser) c.1640T>G (p.Ile547Ser) c.1289T>G (p.Ile430Ser) | |
1 | g.155291893A>G | CA342751262 | PKLR | c.1481T>C (p.Ile494Thr) c.1388T>C (p.Ile463Thr) c.1640T>C (p.Ile547Thr) c.1289T>C (p.Ile430Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291893A>T | CA342751264 | PKLR | c.1481T>A (p.Ile494Asn) c.1388T>A (p.Ile463Asn) c.1640T>A (p.Ile547Asn) c.1289T>A (p.Ile430Asn) | |
1 | g.155291894T>A | CA342751267 | PKLR | c.1480A>T (p.Ile494Phe) c.1387A>T (p.Ile463Phe) c.1639A>T (p.Ile547Phe) c.1288A>T (p.Ile430Phe) | |
1 | g.155291894T>C | CA342751268 | PKLR | c.1480A>G (p.Ile494Val) c.1387A>G (p.Ile463Val) c.1639A>G (p.Ile547Val) c.1288A>G (p.Ile430Val) | |
1 | g.155291894T>G | CA342751270 | PKLR | c.1480A>C (p.Ile494Leu) c.1387A>C (p.Ile463Leu) c.1639A>C (p.Ile547Leu) c.1288A>C (p.Ile430Leu) | |
1 | g.155291895G>A | CA421020209 | PKLR | c.1479C>T (p.Val493=) c.1386C>T (p.Val462=) c.1638C>T (p.Val546=) c.1287C>T (p.Val429=) | |
1 | g.155291895G>C | CA421020211 | PKLR | c.1479C>G (p.Val493=) c.1386C>G (p.Val462=) c.1638C>G (p.Val546=) c.1287C>G (p.Val429=) | |
1 | g.155291895G>T | CA421020210 | PKLR | c.1479C>A (p.Val493=) c.1386C>A (p.Val462=) c.1638C>A (p.Val546=) c.1287C>A (p.Val429=) | |
1 | g.155291896A= | CA1149119385 | PKLR | c.1478T= (p.Val493=) c.1385T= (p.Val462=) c.1637T= (p.Val546=) c.1286T= (p.Val429=) | |
1 | g.155291896A>C | CA342751273 | PKLR | c.1478T>G (p.Val493Gly) c.1385T>G (p.Val462Gly) c.1637T>G (p.Val546Gly) c.1286T>G (p.Val429Gly) | |
1 | g.155291896A>G | CA342751274 | PKLR | c.1478T>C (p.Val493Ala) c.1385T>C (p.Val462Ala) c.1637T>C (p.Val546Ala) c.1286T>C (p.Val429Ala) | |
1 | g.155291896A>T | CA1143984 | PKLR | c.1478T>A (p.Val493Asp) c.1385T>A (p.Val462Asp) c.1637T>A (p.Val546Asp) c.1286T>A (p.Val429Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291897C>A | CA342751282 | PKLR | c.1477G>T (p.Val493Phe) c.1384G>T (p.Val462Phe) c.1636G>T (p.Val546Phe) c.1285G>T (p.Val429Phe) | |
1 | g.155291897C= | CA2481225431 | PKLR | c.1477G= (p.Val493=) c.1384G= (p.Val462=) c.1636G= (p.Val546=) c.1285G= (p.Val429=) | |
1 | g.155291897C>G | CA342751278 | PKLR | c.1477G>C (p.Val493Leu) c.1384G>C (p.Val462Leu) c.1636G>C (p.Val546Leu) c.1285G>C (p.Val429Leu) | |
1 | g.155291897C>T | CA342751280 | PKLR | c.1477G>A (p.Val493Ile) c.1384G>A (p.Val462Ile) c.1636G>A (p.Val546Ile) c.1285G>A (p.Val429Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291898T>A | CA1143986 | PKLR | c.1476A>T (p.Ala492=) c.1383A>T (p.Ala461=) c.1635A>T (p.Ala545=) c.1284A>T (p.Ala428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291898T>C | CA1143985 | PKLR | c.1476A>G (p.Ala492=) c.1383A>G (p.Ala461=) c.1635A>G (p.Ala545=) c.1284A>G (p.Ala428=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291898T>G | CA421020212 | PKLR | c.1476A>C (p.Ala492=) c.1383A>C (p.Ala461=) c.1635A>C (p.Ala545=) c.1284A>C (p.Ala428=) | |
1 | g.155291898T= | CA2481225432 | PKLR | c.1476A= (p.Ala492=) c.1383A= (p.Ala461=) c.1635A= (p.Ala545=) c.1284A= (p.Ala428=) | |
1 | g.155291899G>A | CA342751286 | PKLR | c.1475C>T (p.Ala492Val) c.1382C>T (p.Ala461Val) c.1634C>T (p.Ala545Val) c.1283C>T (p.Ala428Val) | |
1 | g.155291899G>C | CA342751287 | PKLR | c.1475C>G (p.Ala492Gly) c.1382C>G (p.Ala461Gly) c.1634C>G (p.Ala545Gly) c.1283C>G (p.Ala428Gly) | |
1 | g.155291899G= | CA2481225433 | PKLR | c.1475C= (p.Ala492=) c.1382C= (p.Ala461=) c.1634C= (p.Ala545=) c.1283C= (p.Ala428=) | |
1 | g.155291899G>T | CA342751289 | PKLR | c.1475C>A (p.Ala492Glu) c.1382C>A (p.Ala461Glu) c.1634C>A (p.Ala545Glu) c.1283C>A (p.Ala428Glu) | dbSNP gnomAD v4 |
1 | g.155291900C>A | CA342751292 | PKLR | c.1474G>T (p.Ala492Ser) c.1381G>T (p.Ala461Ser) c.1633G>T (p.Ala545Ser) c.1282G>T (p.Ala428Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291900C= | CA2481225434 | PKLR | c.1474G= (p.Ala492=) c.1381G= (p.Ala461=) c.1633G= (p.Ala545=) c.1282G= (p.Ala428=) | |
1 | g.155291900C>G | CA342751293 | PKLR | c.1474G>C (p.Ala492Pro) c.1381G>C (p.Ala461Pro) c.1633G>C (p.Ala545Pro) c.1282G>C (p.Ala428Pro) | |
1 | g.155291900C>T | CA342751295 | PKLR | c.1474G>A (p.Ala492Thr) c.1381G>A (p.Ala461Thr) c.1633G>A (p.Ala545Thr) c.1282G>A (p.Ala428Thr) | |
1 | g.155291901T>A | CA421020213 | PKLR | c.1473A>T (p.Ala491=) c.1380A>T (p.Ala460=) c.1632A>T (p.Ala544=) c.1281A>T (p.Ala427=) | |
1 | g.155291901T>C | CA421020214 | PKLR | c.1473A>G (p.Ala491=) c.1380A>G (p.Ala460=) c.1632A>G (p.Ala544=) c.1281A>G (p.Ala427=) | |
1 | g.155291901T>G | CA421020215 | PKLR | c.1473A>C (p.Ala491=) c.1380A>C (p.Ala460=) c.1632A>C (p.Ala544=) c.1281A>C (p.Ala427=) | |
1 | g.155291902G>A | CA342751298 | PKLR | c.1472C>T (p.Ala491Val) c.1379C>T (p.Ala460Val) c.1631C>T (p.Ala544Val) c.1280C>T (p.Ala427Val) | |
1 | g.155291902G>C | CA342751299 | PKLR | c.1472C>G (p.Ala491Gly) c.1379C>G (p.Ala460Gly) c.1631C>G (p.Ala544Gly) c.1280C>G (p.Ala427Gly) | |
1 | g.155291902G>T | CA342751301 | PKLR | c.1472C>A (p.Ala491Glu) c.1379C>A (p.Ala460Glu) c.1631C>A (p.Ala544Glu) c.1280C>A (p.Ala427Glu) | |
1 | g.155291903C>A | CA342751306 | PKLR | c.1471G>T (p.Ala491Ser) c.1378G>T (p.Ala460Ser) c.1630G>T (p.Ala544Ser) c.1279G>T (p.Ala427Ser) | |
1 | g.155291903C>G | CA342751308 | PKLR | c.1471G>C (p.Ala491Pro) c.1378G>C (p.Ala460Pro) c.1630G>C (p.Ala544Pro) c.1279G>C (p.Ala427Pro) | |
1 | g.155291903C>T | CA342751304 | PKLR | c.1471G>A (p.Ala491Thr) c.1378G>A (p.Ala460Thr) c.1630G>A (p.Ala544Thr) c.1279G>A (p.Ala427Thr) | |
1 | g.155291904C>A | CA421020216 | PKLR | c.1470G>T (p.Arg490=) c.1377G>T (p.Arg459=) c.1629G>T (p.Arg543=) c.1278G>T (p.Arg426=) | |
1 | g.155291904C>G | CA421020217 | PKLR | c.1470G>C (p.Arg490=) c.1377G>C (p.Arg459=) c.1629G>C (p.Arg543=) c.1278G>C (p.Arg426=) | |
1 | g.155291904C>T | CA421020218 | PKLR | c.1470G>A (p.Arg490=) c.1377G>A (p.Arg459=) c.1629G>A (p.Arg543=) c.1278G>A (p.Arg426=) | |
1 | g.155291905C>A | CA1143988 | PKLR | c.1469G>T (p.Arg490Leu) c.1376G>T (p.Arg459Leu) c.1628G>T (p.Arg543Leu) c.1277G>T (p.Arg426Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291905C= | CA1148297382 | PKLR | c.1469G= (p.Arg490=) c.1376G= (p.Arg459=) c.1628G= (p.Arg543=) c.1277G= (p.Arg426=) | |
1 | g.155291905C>G | CA342751311 | PKLR | c.1469G>C (p.Arg490Pro) c.1376G>C (p.Arg459Pro) c.1628G>C (p.Arg543Pro) c.1277G>C (p.Arg426Pro) | |
1 | g.155291905C>T | CA1143987 | PKLR | c.1469G>A (p.Arg490Gln) c.1376G>A (p.Arg459Gln) c.1628G>A (p.Arg543Gln) c.1277G>A (p.Arg426Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155291906G>A | CA1143989 | PKLR | c.1468C>T (p.Arg490Trp) c.1375C>T (p.Arg459Trp) c.1627C>T (p.Arg543Trp) c.1276C>T (p.Arg426Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291906G>C | CA342751315 | PKLR | c.1468C>G (p.Arg490Gly) c.1375C>G (p.Arg459Gly) c.1627C>G (p.Arg543Gly) c.1276C>G (p.Arg426Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291906G= | CA1143397580 | PKLR | c.1468C= (p.Arg490=) c.1375C= (p.Arg459=) c.1627C= (p.Arg543=) c.1276C= (p.Arg426=) | |
1 | g.155291906G>T | CA421020220 | PKLR | c.1468C>A (p.Arg490=) c.1375C>A (p.Arg459=) c.1627C>A (p.Arg543=) c.1276C>A (p.Arg426=) | |
1 | g.155291907A>C | CA421020221 | PKLR | c.1467T>G (p.Pro489=) c.1374T>G (p.Pro458=) c.1626T>G (p.Pro542=) c.1275T>G (p.Pro425=) | |
1 | g.155291907A>G | CA421020222 | PKLR | c.1467T>C (p.Pro489=) c.1374T>C (p.Pro458=) c.1626T>C (p.Pro542=) c.1275T>C (p.Pro425=) | gnomAD v4 |
1 | g.155291907A>T | CA421020223 | PKLR | c.1467T>A (p.Pro489=) c.1374T>A (p.Pro458=) c.1626T>A (p.Pro542=) c.1275T>A (p.Pro425=) | |
1 | g.155291908G>A | CA342751319 | PKLR | c.1466C>T (p.Pro489Leu) c.1373C>T (p.Pro458Leu) c.1625C>T (p.Pro542Leu) c.1274C>T (p.Pro425Leu) | |
1 | g.155291908G>C | CA342751320 | PKLR | c.1466C>G (p.Pro489Arg) c.1373C>G (p.Pro458Arg) c.1625C>G (p.Pro542Arg) c.1274C>G (p.Pro425Arg) | |
1 | g.155291908G>T | CA342751322 | PKLR | c.1466C>A (p.Pro489His) c.1373C>A (p.Pro458His) c.1625C>A (p.Pro542His) c.1274C>A (p.Pro425His) | gnomAD v4 |
1 | g.155291909G>A | CA342751325 | PKLR | c.1465C>T (p.Pro489Ser) c.1372C>T (p.Pro458Ser) c.1624C>T (p.Pro542Ser) c.1273C>T (p.Pro425Ser) | gnomAD v4 |
1 | g.155291909G>C | CA342751326 | PKLR | c.1465C>G (p.Pro489Ala) c.1372C>G (p.Pro458Ala) c.1624C>G (p.Pro542Ala) c.1273C>G (p.Pro425Ala) | |
1 | g.155291909G>T | CA342751328 | PKLR | c.1465C>A (p.Pro489Thr) c.1372C>A (p.Pro458Thr) c.1624C>A (p.Pro542Thr) c.1273C>A (p.Pro425Thr) | |
1 | g.155291910T>A | CA421020225 | PKLR | c.1464A>T (p.Arg488=) c.1371A>T (p.Arg457=) c.1623A>T (p.Arg541=) c.1272A>T (p.Arg424=) | |
1 | g.155291910T>C | CA421020226 | PKLR | c.1464A>G (p.Arg488=) c.1371A>G (p.Arg457=) c.1623A>G (p.Arg541=) c.1272A>G (p.Arg424=) | |
1 | g.155291910T>G | CA421020227 | PKLR | c.1464A>C (p.Arg488=) c.1371A>C (p.Arg457=) c.1623A>C (p.Arg541=) c.1272A>C (p.Arg424=) | |
1 | g.155291911C>A | CA342751330 | PKLR | c.1463G>T (p.Arg488Leu) c.1370G>T (p.Arg457Leu) c.1622G>T (p.Arg541Leu) c.1271G>T (p.Arg424Leu) | |
1 | g.155291911C= | CA1143647237 | PKLR | c.1463G= (p.Arg488=) c.1370G= (p.Arg457=) c.1622G= (p.Arg541=) c.1271G= (p.Arg424=) | |
1 | g.155291911C>G | CA342751332 | PKLR | c.1463G>C (p.Arg488Pro) c.1370G>C (p.Arg457Pro) c.1622G>C (p.Arg541Pro) c.1271G>C (p.Arg424Pro) | |
1 | g.155291911C>T | CA1143990 | PKLR | c.1463G>A (p.Arg488Gln) c.1370G>A (p.Arg457Gln) c.1622G>A (p.Arg541Gln) c.1271G>A (p.Arg424Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291912G>A | CA30900356 | PKLR | c.1462C>T (p.Arg488Ter) c.1369C>T (p.Arg457Ter) c.1621C>T (p.Arg541Ter) c.1270C>T (p.Arg424Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291912G>C | CA342751336 | PKLR | c.1462C>G (p.Arg488Gly) c.1369C>G (p.Arg457Gly) c.1621C>G (p.Arg541Gly) c.1270C>G (p.Arg424Gly) | |
1 | g.155291912G= | CA2481225435 | PKLR | c.1462C= (p.Arg488=) c.1369C= (p.Arg457=) c.1621C= (p.Arg541=) c.1270C= (p.Arg424=) | |
1 | g.155291912G>T | CA421020231 | PKLR | c.1462C>A (p.Arg488=) c.1369C>A (p.Arg457=) c.1621C>A (p.Arg541=) c.1270C>A (p.Arg424=) | |
1 | g.155291913G>A | CA421020232 | PKLR | c.1461C>T (p.Tyr487=) c.1368C>T (p.Tyr456=) c.1620C>T (p.Tyr540=) c.1269C>T (p.Tyr423=) | |
1 | g.155291913G>C | CA342751339 | PKLR | c.1461C>G (p.Tyr487Ter) c.1368C>G (p.Tyr456Ter) c.1620C>G (p.Tyr540Ter) c.1269C>G (p.Tyr423Ter) | |
1 | g.155291913G>T | CA342751341 | PKLR | c.1461C>A (p.Tyr487Ter) c.1368C>A (p.Tyr456Ter) c.1620C>A (p.Tyr540Ter) c.1269C>A (p.Tyr423Ter) | |
1 | g.155291914del | CA2746210388 | PKLR | c.1460del (p.Tyr487SerfsTer?) c.1367del (p.Tyr456SerfsTer?) c.1619del (p.Tyr540SerfsTer?) c.1268del (p.Tyr423SerfsTer?) | |
1 | g.155291914T>A | CA342751343 | PKLR | c.1460A>T (p.Tyr487Phe) c.1367A>T (p.Tyr456Phe) c.1619A>T (p.Tyr540Phe) c.1268A>T (p.Tyr423Phe) | |
1 | g.155291914T>C | CA342751345 | PKLR | c.1460A>G (p.Tyr487Cys) c.1367A>G (p.Tyr456Cys) c.1619A>G (p.Tyr540Cys) c.1268A>G (p.Tyr423Cys) | |
1 | g.155291914T>G | CA342751347 | PKLR | c.1460A>C (p.Tyr487Ser) c.1367A>C (p.Tyr456Ser) c.1619A>C (p.Tyr540Ser) c.1268A>C (p.Tyr423Ser) | |
1 | g.155291915A>C | CA342751350 | PKLR | c.1459T>G (p.Tyr487Asp) c.1366T>G (p.Tyr456Asp) c.1618T>G (p.Tyr540Asp) c.1267T>G (p.Tyr423Asp) | |
1 | g.155291915A>G | CA342751352 | PKLR | c.1459T>C (p.Tyr487His) c.1366T>C (p.Tyr456His) c.1618T>C (p.Tyr540His) c.1267T>C (p.Tyr423His) | |
1 | g.155291915A>T | CA342751353 | PKLR | c.1459T>A (p.Tyr487Asn) c.1366T>A (p.Tyr456Asn) c.1618T>A (p.Tyr540Asn) c.1267T>A (p.Tyr423Asn) | |
1 | g.155291916C>A | CA30900367 | PKLR | c.1458G>T (p.Arg486=) c.1365G>T (p.Arg455=) c.1617G>T (p.Arg539=) c.1266G>T (p.Arg422=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291916C= | CA2481225436 | PKLR | c.1458G= (p.Arg486=) c.1365G= (p.Arg455=) c.1617G= (p.Arg539=) c.1266G= (p.Arg422=) | |
1 | g.155291916C>G | CA421020237 | PKLR | c.1458G>C (p.Arg486=) c.1365G>C (p.Arg455=) c.1617G>C (p.Arg539=) c.1266G>C (p.Arg422=) | |
1 | g.155291916C>T | CA421020236 | PKLR | c.1458G>A (p.Arg486=) c.1365G>A (p.Arg455=) c.1617G>A (p.Arg539=) c.1266G>A (p.Arg422=) | dbSNP gnomAD v2 |
1 | g.155291917C>A | CA342751356 | PKLR | c.1457G>T (p.Arg486Leu) c.1364G>T (p.Arg455Leu) c.1616G>T (p.Arg539Leu) c.1265G>T (p.Arg422Leu) | |
1 | g.155291917C= | CA2481225437 | PKLR | c.1457G= (p.Arg486=) c.1364G= (p.Arg455=) c.1616G= (p.Arg539=) c.1265G= (p.Arg422=) | |
1 | g.155291917C>G | CA342751358 | PKLR | c.1457G>C (p.Arg486Pro) c.1364G>C (p.Arg455Pro) c.1616G>C (p.Arg539Pro) c.1265G>C (p.Arg422Pro) | |
1 | g.155291917C>T | CA1143991 | PKLR | c.1457G>A (p.Arg486Gln) c.1364G>A (p.Arg455Gln) c.1616G>A (p.Arg539Gln) c.1265G>A (p.Arg422Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155291918G>A | CA215080 | PKLR | c.1456C>T (p.Arg486Trp) c.1363C>T (p.Arg455Trp) c.1615C>T (p.Arg539Trp) c.1264C>T (p.Arg422Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291918G>C | CA342751361 | PKLR | c.1456C>G (p.Arg486Gly) c.1363C>G (p.Arg455Gly) c.1615C>G (p.Arg539Gly) c.1264C>G (p.Arg422Gly) | |
1 | g.155291918G= | CA1141509128 | PKLR | c.1456C= (p.Arg486=) c.1363C= (p.Arg455=) c.1615C= (p.Arg539=) c.1264C= (p.Arg422=) | |
1 | g.155291918G>T | CA421020239 | PKLR | c.1456C>A (p.Arg486=) c.1363C>A (p.Arg455=) c.1615C>A (p.Arg539=) c.1264C>A (p.Arg422=) | |
1 | g.155291919A>C | CA421020242 | PKLR | c.1455T>G (p.Ser485=) c.1362T>G (p.Ser454=) c.1614T>G (p.Ser538=) c.1263T>G (p.Ser421=) | |
1 | g.155291919A>G | CA421020241 | PKLR | c.1455T>C (p.Ser485=) c.1362T>C (p.Ser454=) c.1614T>C (p.Ser538=) c.1263T>C (p.Ser421=) | |
1 | g.155291919A>T | CA421020240 | PKLR | c.1455T>A (p.Ser485=) c.1362T>A (p.Ser454=) c.1614T>A (p.Ser538=) c.1263T>A (p.Ser421=) | |
1 | g.155291920G>A | CA342751365 | PKLR | c.1454C>T (p.Ser485Phe) c.1361C>T (p.Ser454Phe) c.1613C>T (p.Ser538Phe) c.1262C>T (p.Ser421Phe) | |
1 | g.155291920G>C | CA342751367 | PKLR | c.1454C>G (p.Ser485Cys) c.1361C>G (p.Ser454Cys) c.1613C>G (p.Ser538Cys) c.1262C>G (p.Ser421Cys) | |
1 | g.155291920G>T | CA342751363 | PKLR | c.1454C>A (p.Ser485Tyr) c.1361C>A (p.Ser454Tyr) c.1613C>A (p.Ser538Tyr) c.1262C>A (p.Ser421Tyr) | |
1 | g.155291921A>C | CA342751371 | PKLR | c.1453T>G (p.Ser485Ala) c.1360T>G (p.Ser454Ala) c.1612T>G (p.Ser538Ala) c.1261T>G (p.Ser421Ala) | |
1 | g.155291921A>G | CA342751370 | PKLR | c.1453T>C (p.Ser485Pro) c.1360T>C (p.Ser454Pro) c.1612T>C (p.Ser538Pro) c.1261T>C (p.Ser421Pro) | |
1 | g.155291921A>T | CA342751373 | PKLR | c.1453T>A (p.Ser485Thr) c.1360T>A (p.Ser454Thr) c.1612T>A (p.Ser538Thr) c.1261T>A (p.Ser421Thr) | |
1 | g.155291922C>A | CA421020244 | PKLR | c.1452G>T (p.Leu484=) c.1359G>T (p.Leu453=) c.1611G>T (p.Leu537=) c.1260G>T (p.Leu420=) | |
1 | g.155291922C>G | CA421020246 | PKLR | c.1452G>C (p.Leu484=) c.1359G>C (p.Leu453=) c.1611G>C (p.Leu537=) c.1260G>C (p.Leu420=) | |
1 | g.155291922C>T | CA421020245 | PKLR | c.1452G>A (p.Leu484=) c.1359G>A (p.Leu453=) c.1611G>A (p.Leu537=) c.1260G>A (p.Leu420=) | |
1 | g.155291923A>C | CA342751375 | PKLR | c.1451T>G (p.Leu484Arg) c.1358T>G (p.Leu453Arg) c.1610T>G (p.Leu537Arg) c.1259T>G (p.Leu420Arg) | |
1 | g.155291923A>G | CA342751378 | PKLR | c.1451T>C (p.Leu484Pro) c.1358T>C (p.Leu453Pro) c.1610T>C (p.Leu537Pro) c.1259T>C (p.Leu420Pro) | |
1 | g.155291923A>T | CA342751380 | PKLR | c.1451T>A (p.Leu484Gln) c.1358T>A (p.Leu453Gln) c.1610T>A (p.Leu537Gln) c.1259T>A (p.Leu420Gln) | |
1 | g.155291924G>A | CA421020248 | PKLR | c.1450C>T (p.Leu484=) c.1357C>T (p.Leu453=) c.1609C>T (p.Leu537=) c.1258C>T (p.Leu420=) | |
1 | g.155291924G>C | CA342751381 | PKLR | c.1450C>G (p.Leu484Val) c.1357C>G (p.Leu453Val) c.1609C>G (p.Leu537Val) c.1258C>G (p.Leu420Val) | |
1 | g.155291924G>T | CA342751383 | PKLR | c.1450C>A (p.Leu484Met) c.1357C>A (p.Leu453Met) c.1609C>A (p.Leu537Met) c.1258C>A (p.Leu420Met) | |
1 | g.155291925A= | CA2481225438 | PKLR | c.1449T= (p.Leu483=) c.1356T= (p.Leu452=) c.1608T= (p.Leu536=) c.1257T= (p.Leu419=) | |
1 | g.155291925A>C | CA1143992 | PKLR | c.1449T>G (p.Leu483=) c.1356T>G (p.Leu452=) c.1608T>G (p.Leu536=) c.1257T>G (p.Leu419=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291925A>G | CA421020249 | PKLR | c.1449T>C (p.Leu483=) c.1356T>C (p.Leu452=) c.1608T>C (p.Leu536=) c.1257T>C (p.Leu419=) | |
1 | g.155291925A>T | CA421020250 | PKLR | c.1449T>A (p.Leu483=) c.1356T>A (p.Leu452=) c.1608T>A (p.Leu536=) c.1257T>A (p.Leu419=) | |
1 | g.155291926A>C | CA342751386 | PKLR | c.1448T>G (p.Leu483Arg) c.1355T>G (p.Leu452Arg) c.1607T>G (p.Leu536Arg) c.1256T>G (p.Leu419Arg) | |
1 | g.155291926A>G | CA342751387 | PKLR | c.1448T>C (p.Leu483Pro) c.1355T>C (p.Leu452Pro) c.1607T>C (p.Leu536Pro) c.1256T>C (p.Leu419Pro) | |
1 | g.155291926A>T | CA342751388 | PKLR | c.1448T>A (p.Leu483His) c.1355T>A (p.Leu452His) c.1607T>A (p.Leu536His) c.1256T>A (p.Leu419His) | |
1 | g.155291927G>A | CA342751389 | PKLR | c.1447C>T (p.Leu483Phe) c.1354C>T (p.Leu452Phe) c.1606C>T (p.Leu536Phe) c.1255C>T (p.Leu419Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155291927G>C | CA342751390 | PKLR | c.1447C>G (p.Leu483Val) c.1354C>G (p.Leu452Val) c.1606C>G (p.Leu536Val) c.1255C>G (p.Leu419Val) | |
1 | g.155291927G= | CA2481225439 | PKLR | c.1447C= (p.Leu483=) c.1354C= (p.Leu452=) c.1606C= (p.Leu536=) c.1255C= (p.Leu419=) | |
1 | g.155291927G>T | CA342751391 | PKLR | c.1447C>A (p.Leu483Ile) c.1354C>A (p.Leu452Ile) c.1606C>A (p.Leu536Ile) c.1255C>A (p.Leu419Ile) | |
1 | g.155291928C>A | CA342751393 | PKLR | c.1446G>T (p.Gln482His) c.1353G>T (p.Gln451His) c.1605G>T (p.Gln535His) c.1254G>T (p.Gln418His) | |
1 | g.155291928C= | CA2481225440 | PKLR | c.1446G= (p.Gln482=) c.1353G= (p.Gln451=) c.1605G= (p.Gln535=) c.1254G= (p.Gln418=) | |
1 | g.155291928C>G | CA342751392 | PKLR | c.1446G>C (p.Gln482His) c.1353G>C (p.Gln451His) c.1605G>C (p.Gln535His) c.1254G>C (p.Gln418His) | |
1 | g.155291928C>T | CA1143993 | PKLR | c.1446G>A (p.Gln482=) c.1353G>A (p.Gln451=) c.1605G>A (p.Gln535=) c.1254G>A (p.Gln418=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291929T>A | CA342751394 | PKLR | c.1445A>T (p.Gln482Leu) c.1352A>T (p.Gln451Leu) c.1604A>T (p.Gln535Leu) c.1253A>T (p.Gln418Leu) | |
1 | g.155291929T>C | CA342751395 | PKLR | c.1445A>G (p.Gln482Arg) c.1352A>G (p.Gln451Arg) c.1604A>G (p.Gln535Arg) c.1253A>G (p.Gln418Arg) | gnomAD v4 |
1 | g.155291929T>G | CA342751396 | PKLR | c.1445A>C (p.Gln482Pro) c.1352A>C (p.Gln451Pro) c.1604A>C (p.Gln535Pro) c.1253A>C (p.Gln418Pro) | |
1 | g.155291930G>A | CA342751397 | PKLR | c.1444C>T (p.Gln482Ter) c.1351C>T (p.Gln451Ter) c.1603C>T (p.Gln535Ter) c.1252C>T (p.Gln418Ter) | COSMIC |
1 | g.155291930G>C | CA342751398 | PKLR | c.1444C>G (p.Gln482Glu) c.1351C>G (p.Gln451Glu) c.1603C>G (p.Gln535Glu) c.1252C>G (p.Gln418Glu) | |
1 | g.155291930G>T | CA342751399 | PKLR | c.1444C>A (p.Gln482Lys) c.1351C>A (p.Gln451Lys) c.1603C>A (p.Gln535Lys) c.1252C>A (p.Gln418Lys) | |
1 | g.155291931G>A | CA421020254 | PKLR | c.1443C>T (p.Ala481=) c.1350C>T (p.Ala450=) c.1602C>T (p.Ala534=) c.1251C>T (p.Ala417=) | |
1 | g.155291931G>C | CA421020255 | PKLR | c.1443C>G (p.Ala481=) c.1350C>G (p.Ala450=) c.1602C>G (p.Ala534=) c.1251C>G (p.Ala417=) | |
1 | g.155291931G>T | CA421020256 | PKLR | c.1443C>A (p.Ala481=) c.1350C>A (p.Ala450=) c.1602C>A (p.Ala534=) c.1251C>A (p.Ala417=) | |
1 | g.155291932G>A | CA1143994 | PKLR | c.1442C>T (p.Ala481Val) c.1349C>T (p.Ala450Val) c.1601C>T (p.Ala534Val) c.1250C>T (p.Ala417Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291932G>C | CA342751400 | PKLR | c.1442C>G (p.Ala481Gly) c.1349C>G (p.Ala450Gly) c.1601C>G (p.Ala534Gly) c.1250C>G (p.Ala417Gly) | |
1 | g.155291932G= | CA2481225441 | PKLR | c.1442C= (p.Ala481=) c.1349C= (p.Ala450=) c.1601C= (p.Ala534=) c.1250C= (p.Ala417=) | |
1 | g.155291932G>T | CA30900403 | PKLR | c.1442C>A (p.Ala481Asp) c.1349C>A (p.Ala450Asp) c.1601C>A (p.Ala534Asp) c.1250C>A (p.Ala417Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291933C>A | CA342751401 | PKLR | c.1441G>T (p.Ala481Ser) c.1348G>T (p.Ala450Ser) c.1600G>T (p.Ala534Ser) c.1249G>T (p.Ala417Ser) | |
1 | g.155291933C>G | CA342751402 | PKLR | c.1441G>C (p.Ala481Pro) c.1348G>C (p.Ala450Pro) c.1600G>C (p.Ala534Pro) c.1249G>C (p.Ala417Pro) | |
1 | g.155291933C>T | CA342751403 | PKLR | c.1441G>A (p.Ala481Thr) c.1348G>A (p.Ala450Thr) c.1600G>A (p.Ala534Thr) c.1249G>A (p.Ala417Thr) | |
1 | g.155291934T>A | CA421020258 | PKLR | c.1440A>T (p.Ser480=) c.1347A>T (p.Ser449=) c.1599A>T (p.Ser533=) c.1248A>T (p.Ser416=) | |
1 | g.155291934T>C | CA421020259 | PKLR | c.1440A>G (p.Ser480=) c.1347A>G (p.Ser449=) c.1599A>G (p.Ser533=) c.1248A>G (p.Ser416=) | |
1 | g.155291934T>G | CA421020260 | PKLR | c.1440A>C (p.Ser480=) c.1347A>C (p.Ser449=) c.1599A>C (p.Ser533=) c.1248A>C (p.Ser416=) | |
1 | g.155291935G>A | CA342751406 | PKLR | c.1439C>T (p.Ser480Leu) c.1346C>T (p.Ser449Leu) c.1598C>T (p.Ser533Leu) c.1247C>T (p.Ser416Leu) | |
1 | g.155291935G>C | CA342751405 | PKLR | c.1439C>G (p.Ser480Ter) c.1346C>G (p.Ser449Ter) c.1598C>G (p.Ser533Ter) c.1247C>G (p.Ser416Ter) | |
1 | g.155291935G>T | CA342751404 | PKLR | c.1439C>A (p.Ser480Ter) c.1346C>A (p.Ser449Ter) c.1598C>A (p.Ser533Ter) c.1247C>A (p.Ser416Ter) | |
1 | g.155291936A>C | CA342751407 | PKLR | c.1438T>G (p.Ser480Ala) c.1345T>G (p.Ser449Ala) c.1597T>G (p.Ser533Ala) c.1246T>G (p.Ser416Ala) | |
1 | g.155291936A>G | CA342751408 | PKLR | c.1438T>C (p.Ser480Pro) c.1345T>C (p.Ser449Pro) c.1597T>C (p.Ser533Pro) c.1246T>C (p.Ser416Pro) | |
1 | g.155291936A>T | CA342751409 | PKLR | c.1438T>A (p.Ser480Thr) c.1345T>A (p.Ser449Thr) c.1597T>A (p.Ser533Thr) c.1246T>A (p.Ser416Thr) | |
1 | g.155291937G>A | CA421020262 | PKLR | c.1437C>T (p.Arg479=) c.1344C>T (p.Arg448=) c.1596C>T (p.Arg532=) c.1245C>T (p.Arg415=) | |
1 | g.155291937G>C | CA421020264 | PKLR | c.1437C>G (p.Arg479=) c.1344C>G (p.Arg448=) c.1596C>G (p.Arg532=) c.1245C>G (p.Arg415=) | |
1 | g.155291937G>T | CA421020263 | PKLR | c.1437C>A (p.Arg479=) c.1344C>A (p.Arg448=) c.1596C>A (p.Arg532=) c.1245C>A (p.Arg415=) | |
1 | g.155291938C>A | CA342751410 | PKLR | c.1437-1G>T (n.1437-1G>T) c.1344-1G>T (n.1344-1G>T) c.1596-1G>T (n.1596-1G>T) c.1245-1G>T (n.1245-1G>T) | |
1 | g.155291938C>G | CA342751411 | PKLR | c.1437-1G>C (n.1437-1G>C) c.1344-1G>C (n.1344-1G>C) c.1596-1G>C (n.1596-1G>C) c.1245-1G>C (n.1245-1G>C) | |
1 | g.155291938C>T | CA342751412 | PKLR | c.1437-1G>A (n.1437-1G>A) c.1344-1G>A (n.1344-1G>A) c.1596-1G>A (n.1596-1G>A) c.1245-1G>A (n.1245-1G>A) | |
1 | g.155291939T>A | CA342751413 | PKLR | c.1437-2A>T (n.1437-2A>T) c.1344-2A>T (n.1344-2A>T) c.1596-2A>T (n.1596-2A>T) c.1245-2A>T (n.1245-2A>T) | |
1 | g.155291939T>C | CA342751414 | PKLR | c.1437-2A>G (n.1437-2A>G) c.1344-2A>G (n.1344-2A>G) c.1596-2A>G (n.1596-2A>G) c.1245-2A>G (n.1245-2A>G) | |
1 | g.155291939T>G | CA342751415 | PKLR | c.1437-2A>C (n.1437-2A>C) c.1344-2A>C (n.1344-2A>C) c.1596-2A>C (n.1596-2A>C) c.1245-2A>C (n.1245-2A>C) | |
1 | g.155291940G>A | CA2573568252 | PKLR | c.1437-3C>T (n.1437-3C>T) c.1344-3C>T (n.1344-3C>T) c.1596-3C>T (n.1596-3C>T) c.1245-3C>T (n.1245-3C>T) |