Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155290611_155290616del | CA889655239 | PKLR | c.1685_1690del (p.Ser562_Gly563del) c.1592_1597del (p.Ser531_Gly532del) c.1844_1849del (p.Ser615_Gly616del) c.1493_1498del (p.Ser498_Gly499del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155290615_155290618del | CA2510661402 | PKLR | c.1681_1684del (p.Gly561ProfsTer10) c.1588_1591del (p.Gly530ProfsTer10) c.1840_1843del (p.Gly614ProfsTer10) c.1489_1492del (p.Gly497ProfsTer10) | |
1 | g.155290613_155290621delinsAGCCAGGTC | CA2481224813 | PKLR | c.1676_1684delinsGACCTGGCT (p.Arg559=) c.1583_1591delinsGACCTGGCT (p.Arg528=) c.1835_1843delinsGACCTGGCT (p.Arg612=) c.1484_1492delinsGACCTGGCT (p.Arg495=) | |
1 | g.155290619_155290626del | CA1143926 | PKLR | c.1676_1683del (p.Arg559LeufsTer?) c.1583_1590del (p.Arg528LeufsTer?) c.1835_1842del (p.Arg612LeufsTer?) c.1484_1491del (p.Arg495LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290615C>A | CA342748287 | PKLR | c.1682G>T (p.Gly561Val) c.1589G>T (p.Gly530Val) c.1841G>T (p.Gly614Val) c.1490G>T (p.Gly497Val) | |
1 | g.155290615C>G | CA342748285 | PKLR | c.1682G>C (p.Gly561Ala) c.1589G>C (p.Gly530Ala) c.1841G>C (p.Gly614Ala) c.1490G>C (p.Gly497Ala) | |
1 | g.155290615C>T | CA342748283 | PKLR | c.1682G>A (p.Gly561Asp) c.1589G>A (p.Gly530Asp) c.1841G>A (p.Gly614Asp) c.1490G>A (p.Gly497Asp) | |
1 | g.155290616C>A | CA342748291 | PKLR | c.1681G>T (p.Gly561Cys) c.1588G>T (p.Gly530Cys) c.1840G>T (p.Gly614Cys) c.1489G>T (p.Gly497Cys) | |
1 | g.155290616C>G | CA342748294 | PKLR | c.1681G>C (p.Gly561Arg) c.1588G>C (p.Gly530Arg) c.1840G>C (p.Gly614Arg) c.1489G>C (p.Gly497Arg) | |
1 | g.155290616C>T | CA342748296 | PKLR | c.1681G>A (p.Gly561Ser) c.1588G>A (p.Gly530Ser) c.1840G>A (p.Gly614Ser) c.1489G>A (p.Gly497Ser) | |
1 | g.155290617A= | CA2481224814 | PKLR | c.1680T= (p.Pro560=) c.1587T= (p.Pro529=) c.1839T= (p.Pro613=) c.1488T= (p.Pro496=) | |
1 | g.155290617A>C | CA421019320 | PKLR | c.1680T>G (p.Pro560=) c.1587T>G (p.Pro529=) c.1839T>G (p.Pro613=) c.1488T>G (p.Pro496=) | |
1 | g.155290617A>G | CA421019322 | PKLR | c.1680T>C (p.Pro560=) c.1587T>C (p.Pro529=) c.1839T>C (p.Pro613=) c.1488T>C (p.Pro496=) | dbSNP |
1 | g.155290617A>T | CA421019324 | PKLR | c.1680T>A (p.Pro560=) c.1587T>A (p.Pro529=) c.1839T>A (p.Pro613=) c.1488T>A (p.Pro496=) | gnomAD v3 gnomAD v4 |
1 | g.155290618G>A | CA342748304 | PKLR | c.1679C>T (p.Pro560Leu) c.1586C>T (p.Pro529Leu) c.1838C>T (p.Pro613Leu) c.1487C>T (p.Pro496Leu) | |
1 | g.155290618G>C | CA342748306 | PKLR | c.1679C>G (p.Pro560Arg) c.1586C>G (p.Pro529Arg) c.1838C>G (p.Pro613Arg) c.1487C>G (p.Pro496Arg) | |
1 | g.155290618G>T | CA342748317 | PKLR | c.1679C>A (p.Pro560His) c.1586C>A (p.Pro529His) c.1838C>A (p.Pro613His) c.1487C>A (p.Pro496His) | |
1 | g.155290619dup | CA2841104289 | PKLR | c.1679dup (p.Gly561TrpfsTer?) c.1586dup (p.Gly530TrpfsTer?) c.1838dup (p.Gly614TrpfsTer?) c.1487dup (p.Gly497TrpfsTer?) | |
1 | g.155290619G>A | CA342748320 | PKLR | c.1678C>T (p.Pro560Ser) c.1585C>T (p.Pro529Ser) c.1837C>T (p.Pro613Ser) c.1486C>T (p.Pro496Ser) | |
1 | g.155290619G>C | CA342748326 | PKLR | c.1678C>G (p.Pro560Ala) c.1585C>G (p.Pro529Ala) c.1837C>G (p.Pro613Ala) c.1486C>G (p.Pro496Ala) | |
1 | g.155290619G>T | CA342748329 | PKLR | c.1678C>A (p.Pro560Thr) c.1585C>A (p.Pro529Thr) c.1837C>A (p.Pro613Thr) c.1486C>A (p.Pro496Thr) | gnomAD v4 |
1 | g.155290620T>A | CA421019331 | PKLR | c.1677A>T (p.Arg559=) c.1584A>T (p.Arg528=) c.1836A>T (p.Arg612=) c.1485A>T (p.Arg495=) | |
1 | g.155290620T>C | CA421019334 | PKLR | c.1677A>G (p.Arg559=) c.1584A>G (p.Arg528=) c.1836A>G (p.Arg612=) c.1485A>G (p.Arg495=) | |
1 | g.155290620T>G | CA421019336 | PKLR | c.1677A>C (p.Arg559=) c.1584A>C (p.Arg528=) c.1836A>C (p.Arg612=) c.1485A>C (p.Arg495=) | |
1 | g.155290621C>A | CA342748333 | PKLR | c.1676G>T (p.Arg559Leu) c.1583G>T (p.Arg528Leu) c.1835G>T (p.Arg612Leu) c.1484G>T (p.Arg495Leu) | |
1 | g.155290621C= | CA2481224815 | PKLR | c.1676G= (p.Arg559=) c.1583G= (p.Arg528=) c.1835G= (p.Arg612=) c.1484G= (p.Arg495=) | |
1 | g.155290621C>G | CA342748335 | PKLR | c.1676G>C (p.Arg559Pro) c.1583G>C (p.Arg528Pro) c.1835G>C (p.Arg612Pro) c.1484G>C (p.Arg495Pro) | ClinVar |
1 | g.155290621C>T | CA342748336 | PKLR | c.1676G>A (p.Arg559Gln) c.1583G>A (p.Arg528Gln) c.1835G>A (p.Arg612Gln) c.1484G>A (p.Arg495Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155290622G>A | CA1143927 | PKLR | c.1675C>T (p.Arg559Ter) c.1582C>T (p.Arg528Ter) c.1834C>T (p.Arg612Ter) c.1483C>T (p.Arg495Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290622G>C | CA342748341 | PKLR | c.1675C>G (p.Arg559Gly) c.1582C>G (p.Arg528Gly) c.1834C>G (p.Arg612Gly) c.1483C>G (p.Arg495Gly) | ClinVar |
1 | g.155290622G= | CA1144613757 | PKLR | c.1675C= (p.Arg559=) c.1582C= (p.Arg528=) c.1834C= (p.Arg612=) c.1483C= (p.Arg495=) | |
1 | g.155290622G>T | CA421019345 | PKLR | c.1675C>A (p.Arg559=) c.1582C>A (p.Arg528=) c.1834C>A (p.Arg612=) c.1483C>A (p.Arg495=) | gnomAD v4 |
1 | g.155290623C>A | CA342748347 | PKLR | c.1674G>T (p.Trp558Cys) c.1581G>T (p.Trp527Cys) c.1833G>T (p.Trp611Cys) c.1482G>T (p.Trp494Cys) | |
1 | g.155290623C>G | CA342748351 | PKLR | c.1674G>C (p.Trp558Cys) c.1581G>C (p.Trp527Cys) c.1833G>C (p.Trp611Cys) c.1482G>C (p.Trp494Cys) | |
1 | g.155290623C>T | CA342748352 | PKLR | c.1674G>A (p.Trp558Ter) c.1581G>A (p.Trp527Ter) c.1833G>A (p.Trp611Ter) c.1482G>A (p.Trp494Ter) | |
1 | g.155290624C>A | CA342748353 | PKLR | c.1673G>T (p.Trp558Leu) c.1580G>T (p.Trp527Leu) c.1832G>T (p.Trp611Leu) c.1481G>T (p.Trp494Leu) | |
1 | g.155290624C= | CA1143762595 | PKLR | c.1673G= (p.Trp558=) c.1580G= (p.Trp527=) c.1832G= (p.Trp611=) c.1481G= (p.Trp494=) | |
1 | g.155290624C>G | CA342748354 | PKLR | c.1673G>C (p.Trp558Ser) c.1580G>C (p.Trp527Ser) c.1832G>C (p.Trp611Ser) c.1481G>C (p.Trp494Ser) | |
1 | g.155290624C>T | CA1143928 | PKLR | c.1673G>A (p.Trp558Ter) c.1580G>A (p.Trp527Ter) c.1832G>A (p.Trp611Ter) c.1481G>A (p.Trp494Ter) | dbSNP ExAC gnomAD v2 |
1 | g.155290625A>C | CA342748359 | PKLR | c.1672T>G (p.Trp558Gly) c.1579T>G (p.Trp527Gly) c.1831T>G (p.Trp611Gly) c.1480T>G (p.Trp494Gly) | |
1 | g.155290625A>G | CA342748361 | PKLR | c.1672T>C (p.Trp558Arg) c.1579T>C (p.Trp527Arg) c.1831T>C (p.Trp611Arg) c.1480T>C (p.Trp494Arg) | |
1 | g.155290625A>T | CA342748364 | PKLR | c.1672T>A (p.Trp558Arg) c.1579T>A (p.Trp527Arg) c.1831T>A (p.Trp611Arg) c.1480T>A (p.Trp494Arg) | |
1 | g.155290625_155290629del | CA2525498094 | PKLR | c.1668_1672del (p.Gly557AlafsTer?) c.1575_1579del (p.Gly526AlafsTer?) c.1827_1831del (p.Gly610AlafsTer?) c.1476_1480del (p.Gly493AlafsTer?) | |
1 | g.155290626G>A | CA421019361 | PKLR | c.1671C>T (p.Gly557=) c.1578C>T (p.Gly526=) c.1830C>T (p.Gly610=) c.1479C>T (p.Gly493=) | |
1 | g.155290626G>C | CA421019363 | PKLR | c.1671C>G (p.Gly557=) c.1578C>G (p.Gly526=) c.1830C>G (p.Gly610=) c.1479C>G (p.Gly493=) | |
1 | g.155290626G= | CA2481224816 | PKLR | c.1671C= (p.Gly557=) c.1578C= (p.Gly526=) c.1830C= (p.Gly610=) c.1479C= (p.Gly493=) | |
1 | g.155290626G>T | CA421019365 | PKLR | c.1671C>A (p.Gly557=) c.1578C>A (p.Gly526=) c.1830C>A (p.Gly610=) c.1479C>A (p.Gly493=) | dbSNP gnomAD v2 |
1 | g.155290627C>A | CA342748370 | PKLR | c.1670G>T (p.Gly557Val) c.1577G>T (p.Gly526Val) c.1829G>T (p.Gly610Val) c.1478G>T (p.Gly493Val) | |
1 | g.155290627C= | CA2481224817 | PKLR | c.1670G= (p.Gly557=) c.1577G= (p.Gly526=) c.1829G= (p.Gly610=) c.1478G= (p.Gly493=) | |
1 | g.155290627C>G | CA342748374 | PKLR | c.1670G>C (p.Gly557Ala) c.1577G>C (p.Gly526Ala) c.1829G>C (p.Gly610Ala) c.1478G>C (p.Gly493Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.155290627C>T | CA342748379 | PKLR | c.1670G>A (p.Gly557Asp) c.1577G>A (p.Gly526Asp) c.1829G>A (p.Gly610Asp) c.1478G>A (p.Gly493Asp) | gnomAD v4 |
1 | g.155290628C>A | CA342748384 | PKLR | c.1669G>T (p.Gly557Cys) c.1576G>T (p.Gly526Cys) c.1828G>T (p.Gly610Cys) c.1477G>T (p.Gly493Cys) | |
1 | g.155290628C= | CA2481224818 | PKLR | c.1669G= (p.Gly557=) c.1576G= (p.Gly526=) c.1828G= (p.Gly610=) c.1477G= (p.Gly493=) | |
1 | g.155290628C>G | CA342748387 | PKLR | c.1669G>C (p.Gly557Arg) c.1576G>C (p.Gly526Arg) c.1828G>C (p.Gly610Arg) c.1477G>C (p.Gly493Arg) | |
1 | g.155290628C>T | CA342748381 | PKLR | c.1669G>A (p.Gly557Ser) c.1576G>A (p.Gly526Ser) c.1828G>A (p.Gly610Ser) c.1477G>A (p.Gly493Ser) | dbSNP |
1 | g.155290629T>A | CA421019375 | PKLR | c.1668A>T (p.Thr556=) c.1575A>T (p.Thr525=) c.1827A>T (p.Thr609=) c.1476A>T (p.Thr492=) | |
1 | g.155290629T>C | CA421019377 | PKLR | c.1668A>G (p.Thr556=) c.1575A>G (p.Thr525=) c.1827A>G (p.Thr609=) c.1476A>G (p.Thr492=) | |
1 | g.155290629T>G | CA421019380 | PKLR | c.1668A>C (p.Thr556=) c.1575A>C (p.Thr525=) c.1827A>C (p.Thr609=) c.1476A>C (p.Thr492=) | |
1 | g.155290630G>A | CA342748401 | PKLR | c.1667C>T (p.Thr556Ile) c.1574C>T (p.Thr525Ile) c.1826C>T (p.Thr609Ile) c.1475C>T (p.Thr492Ile) | |
1 | g.155290630G>C | CA342748389 | PKLR | c.1667C>G (p.Thr556Arg) c.1574C>G (p.Thr525Arg) c.1826C>G (p.Thr609Arg) c.1475C>G (p.Thr492Arg) | |
1 | g.155290630G>T | CA342748399 | PKLR | c.1667C>A (p.Thr556Lys) c.1574C>A (p.Thr525Lys) c.1826C>A (p.Thr609Lys) c.1475C>A (p.Thr492Lys) | |
1 | g.155290631T>A | CA342748405 | PKLR | c.1666A>T (p.Thr556Ser) c.1573A>T (p.Thr525Ser) c.1825A>T (p.Thr609Ser) c.1474A>T (p.Thr492Ser) | |
1 | g.155290631T>C | CA342748408 | PKLR | c.1666A>G (p.Thr556Ala) c.1573A>G (p.Thr525Ala) c.1825A>G (p.Thr609Ala) c.1474A>G (p.Thr492Ala) | |
1 | g.155290631T>G | CA342748410 | PKLR | c.1666A>C (p.Thr556Pro) c.1573A>C (p.Thr525Pro) c.1825A>C (p.Thr609Pro) c.1474A>C (p.Thr492Pro) | |
1 | g.155290632C>A | CA421019390 | PKLR | c.1665G>T (p.Val555=) c.1572G>T (p.Val524=) c.1824G>T (p.Val608=) c.1473G>T (p.Val491=) | |
1 | g.155290632C>G | CA421019391 | PKLR | c.1665G>C (p.Val555=) c.1572G>C (p.Val524=) c.1824G>C (p.Val608=) c.1473G>C (p.Val491=) | |
1 | g.155290632C>T | CA421019393 | PKLR | c.1665G>A (p.Val555=) c.1572G>A (p.Val524=) c.1824G>A (p.Val608=) c.1473G>A (p.Val491=) | |
1 | g.155290633A>C | CA342748425 | PKLR | c.1664T>G (p.Val555Gly) c.1571T>G (p.Val524Gly) c.1823T>G (p.Val608Gly) c.1472T>G (p.Val491Gly) | |
1 | g.155290633A>G | CA342748424 | PKLR | c.1664T>C (p.Val555Ala) c.1571T>C (p.Val524Ala) c.1823T>C (p.Val608Ala) c.1472T>C (p.Val491Ala) | gnomAD v4 |
1 | g.155290633A>T | CA342748414 | PKLR | c.1664T>A (p.Val555Glu) c.1571T>A (p.Val524Glu) c.1823T>A (p.Val608Glu) c.1472T>A (p.Val491Glu) | |
1 | g.155290633dup | CA2841104290 | PKLR | c.1664dup (p.Thr556AspfsTer?) c.1571dup (p.Thr525AspfsTer?) c.1823dup (p.Thr609AspfsTer?) c.1472dup (p.Thr492AspfsTer?) | |
1 | g.155290634C>A | CA1143929 | PKLR | c.1663G>T (p.Val555Leu) c.1570G>T (p.Val524Leu) c.1822G>T (p.Val608Leu) c.1471G>T (p.Val491Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155290634C= | CA2481224819 | PKLR | c.1663G= (p.Val555=) c.1570G= (p.Val524=) c.1822G= (p.Val608=) c.1471G= (p.Val491=) | |
1 | g.155290634C>G | CA342748427 | PKLR | c.1663G>C (p.Val555Leu) c.1570G>C (p.Val524Leu) c.1822G>C (p.Val608Leu) c.1471G>C (p.Val491Leu) | |
1 | g.155290634C>T | CA342748428 | PKLR | c.1663G>A (p.Val555Met) c.1570G>A (p.Val524Met) c.1822G>A (p.Val608Met) c.1471G>A (p.Val491Met) | |
1 | g.155290635C>A | CA421019408 | PKLR | c.1662G>T (p.Val554=) c.1569G>T (p.Val523=) c.1821G>T (p.Val607=) c.1470G>T (p.Val490=) | |
1 | g.155290635C>G | CA421019406 | PKLR | c.1662G>C (p.Val554=) c.1569G>C (p.Val523=) c.1821G>C (p.Val607=) c.1470G>C (p.Val490=) | |
1 | g.155290635C>T | CA421019405 | PKLR | c.1662G>A (p.Val554=) c.1569G>A (p.Val523=) c.1821G>A (p.Val607=) c.1470G>A (p.Val490=) | gnomAD v4 |
1 | g.155290636A= | CA2481224820 | PKLR | c.1661T= (p.Val554=) c.1568T= (p.Val523=) c.1820T= (p.Val607=) c.1469T= (p.Val490=) | |
1 | g.155290636A>C | CA342748434 | PKLR | c.1661T>G (p.Val554Gly) c.1568T>G (p.Val523Gly) c.1820T>G (p.Val607Gly) c.1469T>G (p.Val490Gly) | |
1 | g.155290636A>G | CA342748437 | PKLR | c.1661T>C (p.Val554Ala) c.1568T>C (p.Val523Ala) c.1820T>C (p.Val607Ala) c.1469T>C (p.Val490Ala) | dbSNP gnomAD v4 |
1 | g.155290636A>T | CA342748439 | PKLR | c.1661T>A (p.Val554Glu) c.1568T>A (p.Val523Glu) c.1820T>A (p.Val607Glu) c.1469T>A (p.Val490Glu) | |
1 | g.155290637C>A | CA342748444 | PKLR | c.1660G>T (p.Val554Leu) c.1567G>T (p.Val523Leu) c.1819G>T (p.Val607Leu) c.1468G>T (p.Val490Leu) | |
1 | g.155290637C>G | CA342748451 | PKLR | c.1660G>C (p.Val554Leu) c.1567G>C (p.Val523Leu) c.1819G>C (p.Val607Leu) c.1468G>C (p.Val490Leu) | |
1 | g.155290637C>T | CA342748447 | PKLR | c.1660G>A (p.Val554Met) c.1567G>A (p.Val523Met) c.1819G>A (p.Val607Met) c.1468G>A (p.Val490Met) | |
1 | g.155290638A>C | CA342748456 | PKLR | c.1659T>G (p.Ile553Met) c.1566T>G (p.Ile522Met) c.1818T>G (p.Ile606Met) c.1467T>G (p.Ile489Met) | |
1 | g.155290638A>G | CA421019423 | PKLR | c.1659T>C (p.Ile553=) c.1566T>C (p.Ile522=) c.1818T>C (p.Ile606=) c.1467T>C (p.Ile489=) | |
1 | g.155290638A>T | CA421019426 | PKLR | c.1659T>A (p.Ile553=) c.1566T>A (p.Ile522=) c.1818T>A (p.Ile606=) c.1467T>A (p.Ile489=) | |
1 | g.155290639A>C | CA342748458 | PKLR | c.1658T>G (p.Ile553Ser) c.1565T>G (p.Ile522Ser) c.1817T>G (p.Ile606Ser) c.1466T>G (p.Ile489Ser) | |
1 | g.155290639A>G | CA342748460 | PKLR | c.1658T>C (p.Ile553Thr) c.1565T>C (p.Ile522Thr) c.1817T>C (p.Ile606Thr) c.1466T>C (p.Ile489Thr) | |
1 | g.155290639A>T | CA342748465 | PKLR | c.1658T>A (p.Ile553Asn) c.1565T>A (p.Ile522Asn) c.1817T>A (p.Ile606Asn) c.1466T>A (p.Ile489Asn) | |
1 | g.155290640T>A | CA342748471 | PKLR | c.1657A>T (p.Ile553Phe) c.1564A>T (p.Ile522Phe) c.1816A>T (p.Ile606Phe) c.1465A>T (p.Ile489Phe) | |
1 | g.155290640T>C | CA342748473 | PKLR | c.1657A>G (p.Ile553Val) c.1564A>G (p.Ile522Val) c.1816A>G (p.Ile606Val) c.1465A>G (p.Ile489Val) | |
1 | g.155290640T>G | CA342748476 | PKLR | c.1657A>C (p.Ile553Leu) c.1564A>C (p.Ile522Leu) c.1816A>C (p.Ile606Leu) c.1465A>C (p.Ile489Leu) | |
1 | g.155290641C>A | CA421019433 | PKLR | c.1656G>T (p.Val552=) c.1563G>T (p.Val521=) c.1815G>T (p.Val605=) c.1464G>T (p.Val488=) | |
1 | g.155290641C>G | CA421019434 | PKLR | c.1656G>C (p.Val552=) c.1563G>C (p.Val521=) c.1815G>C (p.Val605=) c.1464G>C (p.Val488=) | |
1 | g.155290641C>T | CA421019435 | PKLR | c.1656G>A (p.Val552=) c.1563G>A (p.Val521=) c.1815G>A (p.Val605=) c.1464G>A (p.Val488=) | |
1 | g.155290642A= | CA2481224821 | PKLR | c.1655T= (p.Val552=) c.1562T= (p.Val521=) c.1814T= (p.Val605=) c.1463T= (p.Val488=) | |
1 | g.155290642A>C | CA342748479 | PKLR | c.1655T>G (p.Val552Gly) c.1562T>G (p.Val521Gly) c.1814T>G (p.Val605Gly) c.1463T>G (p.Val488Gly) | |
1 | g.155290642A>G | CA1143930 | PKLR | c.1655T>C (p.Val552Ala) c.1562T>C (p.Val521Ala) c.1814T>C (p.Val605Ala) c.1463T>C (p.Val488Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290642A>T | CA342748483 | PKLR | c.1655T>A (p.Val552Glu) c.1562T>A (p.Val521Glu) c.1814T>A (p.Val605Glu) c.1463T>A (p.Val488Glu) | |
1 | g.155290643C>A | CA342748492 | PKLR | c.1654G>T (p.Val552Leu) c.1561G>T (p.Val521Leu) c.1813G>T (p.Val605Leu) c.1462G>T (p.Val488Leu) | |
1 | g.155290643C= | CA1143722280 | PKLR | c.1654G= (p.Val552=) c.1561G= (p.Val521=) c.1813G= (p.Val605=) c.1462G= (p.Val488=) | |
1 | g.155290643C>G | CA342748489 | PKLR | c.1654G>C (p.Val552Leu) c.1561G>C (p.Val521Leu) c.1813G>C (p.Val605Leu) c.1462G>C (p.Val488Leu) | |
1 | g.155290643C>T | CA30899381 | PKLR | c.1654G>A (p.Val552Met) c.1561G>A (p.Val521Met) c.1813G>A (p.Val605Met) c.1462G>A (p.Val488Met) | ClinVar dbSNP gnomAD v4 |
1 | g.155290644C>A | CA421019444 | PKLR | c.1653G>T (p.Leu551=) c.1560G>T (p.Leu520=) c.1812G>T (p.Leu604=) c.1461G>T (p.Leu487=) | |
1 | g.155290644C>G | CA421019446 | PKLR | c.1653G>C (p.Leu551=) c.1560G>C (p.Leu520=) c.1812G>C (p.Leu604=) c.1461G>C (p.Leu487=) | gnomAD v4 |
1 | g.155290644C>T | CA421019447 | PKLR | c.1653G>A (p.Leu551=) c.1560G>A (p.Leu520=) c.1812G>A (p.Leu604=) c.1461G>A (p.Leu487=) | |
1 | g.155290645A= | CA2481224822 | PKLR | c.1652T= (p.Leu551=) c.1559T= (p.Leu520=) c.1811T= (p.Leu604=) c.1460T= (p.Leu487=) | |
1 | g.155290645A>C | CA342748496 | PKLR | c.1652T>G (p.Leu551Arg) c.1559T>G (p.Leu520Arg) c.1811T>G (p.Leu604Arg) c.1460T>G (p.Leu487Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155290645A>G | CA342748499 | PKLR | c.1652T>C (p.Leu551Pro) c.1559T>C (p.Leu520Pro) c.1811T>C (p.Leu604Pro) c.1460T>C (p.Leu487Pro) | |
1 | g.155290645A>T | CA342748501 | PKLR | c.1652T>A (p.Leu551Gln) c.1559T>A (p.Leu520Gln) c.1811T>A (p.Leu604Gln) c.1460T>A (p.Leu487Gln) | |
1 | g.155290646G>A | CA421019452 | PKLR | c.1651C>T (p.Leu551=) c.1558C>T (p.Leu520=) c.1810C>T (p.Leu604=) c.1459C>T (p.Leu487=) | |
1 | g.155290646G>C | CA342748505 | PKLR | c.1651C>G (p.Leu551Val) c.1558C>G (p.Leu520Val) c.1810C>G (p.Leu604Val) c.1459C>G (p.Leu487Val) | |
1 | g.155290646G>T | CA342748508 | PKLR | c.1651C>A (p.Leu551Met) c.1558C>A (p.Leu520Met) c.1810C>A (p.Leu604Met) c.1459C>A (p.Leu487Met) | |
1 | g.155290647G>A | CA421019454 | PKLR | c.1650C>T (p.Asp550=) c.1557C>T (p.Asp519=) c.1809C>T (p.Asp603=) c.1458C>T (p.Asp486=) | gnomAD v4 |
1 | g.155290647G>C | CA342748513 | PKLR | c.1650C>G (p.Asp550Glu) c.1557C>G (p.Asp519Glu) c.1809C>G (p.Asp603Glu) c.1458C>G (p.Asp486Glu) | |
1 | g.155290647G>T | CA342748516 | PKLR | c.1650C>A (p.Asp550Glu) c.1557C>A (p.Asp519Glu) c.1809C>A (p.Asp603Glu) c.1458C>A (p.Asp486Glu) | |
1 | g.155290648T>A | CA342748518 | PKLR | c.1649A>T (p.Asp550Val) c.1556A>T (p.Asp519Val) c.1808A>T (p.Asp603Val) c.1457A>T (p.Asp486Val) | |
1 | g.155290648T>C | CA342748522 | PKLR | c.1649A>G (p.Asp550Gly) c.1556A>G (p.Asp519Gly) c.1808A>G (p.Asp603Gly) c.1457A>G (p.Asp486Gly) | |
1 | g.155290648T>G | CA342748527 | PKLR | c.1649A>C (p.Asp550Ala) c.1556A>C (p.Asp519Ala) c.1808A>C (p.Asp603Ala) c.1457A>C (p.Asp486Ala) | |
1 | g.155290649C>A | CA342748532 | PKLR | c.1648G>T (p.Asp550Tyr) c.1555G>T (p.Asp519Tyr) c.1807G>T (p.Asp603Tyr) c.1456G>T (p.Asp486Tyr) | |
1 | g.155290649C>G | CA342748535 | PKLR | c.1648G>C (p.Asp550His) c.1555G>C (p.Asp519His) c.1807G>C (p.Asp603His) c.1456G>C (p.Asp486His) | |
1 | g.155290649C>T | CA342748542 | PKLR | c.1648G>A (p.Asp550Asn) c.1555G>A (p.Asp519Asn) c.1807G>A (p.Asp603Asn) c.1456G>A (p.Asp486Asn) | |
1 | g.155290650T>A | CA421019469 | PKLR | c.1647A>T (p.Gly549=) c.1554A>T (p.Gly518=) c.1806A>T (p.Gly602=) c.1455A>T (p.Gly485=) | |
1 | g.155290650T>C | CA421019471 | PKLR | c.1647A>G (p.Gly549=) c.1554A>G (p.Gly518=) c.1806A>G (p.Gly602=) c.1455A>G (p.Gly485=) | |
1 | g.155290650T>G | CA421019473 | PKLR | c.1647A>C (p.Gly549=) c.1554A>C (p.Gly518=) c.1806A>C (p.Gly602=) c.1455A>C (p.Gly485=) | |
1 | g.155290651C>A | CA342748550 | PKLR | c.1646G>T (p.Gly549Val) c.1553G>T (p.Gly518Val) c.1805G>T (p.Gly602Val) c.1454G>T (p.Gly485Val) | |
1 | g.155290651C= | CA2481224823 | PKLR | c.1646G= (p.Gly549=) c.1553G= (p.Gly518=) c.1805G= (p.Gly602=) c.1454G= (p.Gly485=) | |
1 | g.155290651C>G | CA342748545 | PKLR | c.1646G>C (p.Gly549Ala) c.1553G>C (p.Gly518Ala) c.1805G>C (p.Gly602Ala) c.1454G>C (p.Gly485Ala) | |
1 | g.155290651C>T | CA342748548 | PKLR | c.1646G>A (p.Gly549Glu) c.1553G>A (p.Gly518Glu) c.1805G>A (p.Gly602Glu) c.1454G>A (p.Gly485Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155290652C>A | CA342748552 | PKLR | c.1645G>T (p.Gly549Ter) c.1552G>T (p.Gly518Ter) c.1804G>T (p.Gly602Ter) c.1453G>T (p.Gly485Ter) | |
1 | g.155290652C= | CA1143182628 | PKLR | c.1645G= (p.Gly549=) c.1552G= (p.Gly518=) c.1804G= (p.Gly602=) c.1453G= (p.Gly485=) | |
1 | g.155290652C>G | CA342748559 | PKLR | c.1645G>C (p.Gly549Arg) c.1552G>C (p.Gly518Arg) c.1804G>C (p.Gly602Arg) c.1453G>C (p.Gly485Arg) | |
1 | g.155290652C>T | CA1143931 | PKLR | c.1645G>A (p.Gly549Arg) c.1552G>A (p.Gly518Arg) c.1804G>A (p.Gly602Arg) c.1453G>A (p.Gly485Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290653A>C | CA421019484 | PKLR | c.1644T>G (p.Val548=) c.1551T>G (p.Val517=) c.1803T>G (p.Val601=) c.1452T>G (p.Val484=) | gnomAD v4 |
1 | g.155290653A>G | CA421019486 | PKLR | c.1644T>C (p.Val548=) c.1551T>C (p.Val517=) c.1803T>C (p.Val601=) c.1452T>C (p.Val484=) | |
1 | g.155290653A>T | CA421019488 | PKLR | c.1644T>A (p.Val548=) c.1551T>A (p.Val517=) c.1803T>A (p.Val601=) c.1452T>A (p.Val484=) | |
1 | g.155290654A>C | CA342748561 | PKLR | c.1643T>G (p.Val548Gly) c.1550T>G (p.Val517Gly) c.1802T>G (p.Val601Gly) c.1451T>G (p.Val484Gly) | |
1 | g.155290654A>G | CA342748563 | PKLR | c.1643T>C (p.Val548Ala) c.1550T>C (p.Val517Ala) c.1802T>C (p.Val601Ala) c.1451T>C (p.Val484Ala) | gnomAD v4 |
1 | g.155290654A>T | CA342748566 | PKLR | c.1643T>A (p.Val548Asp) c.1550T>A (p.Val517Asp) c.1802T>A (p.Val601Asp) c.1451T>A (p.Val484Asp) | gnomAD v4 |
1 | g.155290655C>A | CA342748569 | PKLR | c.1642G>T (p.Val548Phe) c.1549G>T (p.Val517Phe) c.1801G>T (p.Val601Phe) c.1450G>T (p.Val484Phe) | |
1 | g.155290655C>G | CA342748570 | PKLR | c.1642G>C (p.Val548Leu) c.1549G>C (p.Val517Leu) c.1801G>C (p.Val601Leu) c.1450G>C (p.Val484Leu) | |
1 | g.155290655C>T | CA342748571 | PKLR | c.1642G>A (p.Val548Ile) c.1549G>A (p.Val517Ile) c.1801G>A (p.Val601Ile) c.1450G>A (p.Val484Ile) | |
1 | g.155290655_155290656insT | CA2586967467 | PKLR | c.1641_1642insA (p.Val548SerfsTer?) c.1548_1549insA (p.Val517SerfsTer?) c.1800_1801insA (p.Val601SerfsTer?) c.1449_1450insA (p.Val484SerfsTer?) | |
1 | g.155290656A>C | CA421019498 | PKLR | c.1641T>G (p.Arg547=) c.1548T>G (p.Arg516=) c.1800T>G (p.Arg600=) c.1449T>G (p.Arg483=) | |
1 | g.155290656A>G | CA421019499 | PKLR | c.1641T>C (p.Arg547=) c.1548T>C (p.Arg516=) c.1800T>C (p.Arg600=) c.1449T>C (p.Arg483=) | |
1 | g.155290656A>T | CA421019496 | PKLR | c.1641T>A (p.Arg547=) c.1548T>A (p.Arg516=) c.1800T>A (p.Arg600=) c.1449T>A (p.Arg483=) | |
1 | g.155290657C>A | CA342748572 | PKLR | c.1640G>T (p.Arg547Leu) c.1547G>T (p.Arg516Leu) c.1799G>T (p.Arg600Leu) c.1448G>T (p.Arg483Leu) | |
1 | g.155290657C= | CA1144066080 | PKLR | c.1640G= (p.Arg547=) c.1547G= (p.Arg516=) c.1799G= (p.Arg600=) c.1448G= (p.Arg483=) | |
1 | g.155290657C>G | CA342748573 | PKLR | c.1640G>C (p.Arg547Pro) c.1547G>C (p.Arg516Pro) c.1799G>C (p.Arg600Pro) c.1448G>C (p.Arg483Pro) | ClinVar |
1 | g.155290657C>T | CA1143932 | PKLR | c.1640G>A (p.Arg547His) c.1547G>A (p.Arg516His) c.1799G>A (p.Arg600His) c.1448G>A (p.Arg483His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290658G>A | CA1143933 | PKLR | c.1639C>T (p.Arg547Cys) c.1546C>T (p.Arg516Cys) c.1798C>T (p.Arg600Cys) c.1447C>T (p.Arg483Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155290658G>C | CA342748584 | PKLR | c.1639C>G (p.Arg547Gly) c.1546C>G (p.Arg516Gly) c.1798C>G (p.Arg600Gly) c.1447C>G (p.Arg483Gly) | |
1 | g.155290658G= | CA2481224824 | PKLR | c.1639C= (p.Arg547=) c.1546C= (p.Arg516=) c.1798C= (p.Arg600=) c.1447C= (p.Arg483=) | |
1 | g.155290658G>T | CA342748580 | PKLR | c.1639C>A (p.Arg547Ser) c.1546C>A (p.Arg516Ser) c.1798C>A (p.Arg600Ser) c.1447C>A (p.Arg483Ser) | gnomAD v4 |
1 | g.155290659G>A | CA421019515 | PKLR | c.1638C>T (p.Leu546=) c.1545C>T (p.Leu515=) c.1797C>T (p.Leu599=) c.1446C>T (p.Leu482=) | |
1 | g.155290659G>C | CA421019511 | PKLR | c.1638C>G (p.Leu546=) c.1545C>G (p.Leu515=) c.1797C>G (p.Leu599=) c.1446C>G (p.Leu482=) | |
1 | g.155290659G>T | CA421019513 | PKLR | c.1638C>A (p.Leu546=) c.1545C>A (p.Leu515=) c.1797C>A (p.Leu599=) c.1446C>A (p.Leu482=) | |
1 | g.155290660A>C | CA342748585 | PKLR | c.1637T>G (p.Leu546Arg) c.1544T>G (p.Leu515Arg) c.1796T>G (p.Leu599Arg) c.1445T>G (p.Leu482Arg) | |
1 | g.155290660A>G | CA342748588 | PKLR | c.1637T>C (p.Leu546Pro) c.1544T>C (p.Leu515Pro) c.1796T>C (p.Leu599Pro) c.1445T>C (p.Leu482Pro) | |
1 | g.155290660A>T | CA342748586 | PKLR | c.1637T>A (p.Leu546His) c.1544T>A (p.Leu515His) c.1796T>A (p.Leu599His) c.1445T>A (p.Leu482His) | gnomAD v4 |
1 | g.155290661G>A | CA342748590 | PKLR | c.1636C>T (p.Leu546Phe) c.1543C>T (p.Leu515Phe) c.1795C>T (p.Leu599Phe) c.1444C>T (p.Leu482Phe) | gnomAD v4 |
1 | g.155290661G>C | CA342748596 | PKLR | c.1636C>G (p.Leu546Val) c.1543C>G (p.Leu515Val) c.1795C>G (p.Leu599Val) c.1444C>G (p.Leu482Val) | |
1 | g.155290661G>T | CA342748593 | PKLR | c.1636C>A (p.Leu546Ile) c.1543C>A (p.Leu515Ile) c.1795C>A (p.Leu599Ile) c.1444C>A (p.Leu482Ile) | |
1 | g.155290662G>A | CA421019528 | PKLR | c.1635C>T (p.Phe545=) c.1542C>T (p.Phe514=) c.1794C>T (p.Phe598=) c.1443C>T (p.Phe481=) | |
1 | g.155290662G>C | CA342748602 | PKLR | c.1635C>G (p.Phe545Leu) c.1542C>G (p.Phe514Leu) c.1794C>G (p.Phe598Leu) c.1443C>G (p.Phe481Leu) | |
1 | g.155290662G>T | CA342748605 | PKLR | c.1635C>A (p.Phe545Leu) c.1542C>A (p.Phe514Leu) c.1794C>A (p.Phe598Leu) c.1443C>A (p.Phe481Leu) | |
1 | g.155290663A>C | CA342748616 | PKLR | c.1634T>G (p.Phe545Cys) c.1541T>G (p.Phe514Cys) c.1793T>G (p.Phe598Cys) c.1442T>G (p.Phe481Cys) | |
1 | g.155290663A>G | CA342748617 | PKLR | c.1634T>C (p.Phe545Ser) c.1541T>C (p.Phe514Ser) c.1793T>C (p.Phe598Ser) c.1442T>C (p.Phe481Ser) | |
1 | g.155290663A>T | CA342748618 | PKLR | c.1634T>A (p.Phe545Tyr) c.1541T>A (p.Phe514Tyr) c.1793T>A (p.Phe598Tyr) c.1442T>A (p.Phe481Tyr) | |
1 | g.155290664A= | CA2481224825 | PKLR | c.1633T= (p.Phe545=) c.1540T= (p.Phe514=) c.1792T= (p.Phe598=) c.1441T= (p.Phe481=) | |
1 | g.155290664A>C | CA342748620 | PKLR | c.1633T>G (p.Phe545Val) c.1540T>G (p.Phe514Val) c.1792T>G (p.Phe598Val) c.1441T>G (p.Phe481Val) | |
1 | g.155290664A>G | CA342748623 | PKLR | c.1633T>C (p.Phe545Leu) c.1540T>C (p.Phe514Leu) c.1792T>C (p.Phe598Leu) c.1441T>C (p.Phe481Leu) | |
1 | g.155290664A>T | CA342748626 | PKLR | c.1633T>A (p.Phe545Ile) c.1540T>A (p.Phe514Ile) c.1792T>A (p.Phe598Ile) c.1441T>A (p.Phe481Ile) | |
1 | g.155290665G>A | CA421019551 | PKLR | c.1632C>T (p.Gly544=) c.1539C>T (p.Gly513=) c.1791C>T (p.Gly597=) c.1440C>T (p.Gly480=) | |
1 | g.155290665G>C | CA421019553 | PKLR | c.1632C>G (p.Gly544=) c.1539C>G (p.Gly513=) c.1791C>G (p.Gly597=) c.1440C>G (p.Gly480=) | |
1 | g.155290665G>T | CA421019555 | PKLR | c.1632C>A (p.Gly544=) c.1539C>A (p.Gly513=) c.1791C>A (p.Gly597=) c.1440C>A (p.Gly480=) | gnomAD v4 |
1 | g.155290665_155290667dup | CA2481224826 | PKLR | c.1630_1632dup (p.Gly544_Phe545insGly) c.1537_1539dup (p.Gly513_Phe514insGly) c.1789_1791dup (p.Gly597_Phe598insGly) c.1438_1440dup (p.Gly480_Phe481insGly) | dbSNP |
1 | g.155290666C>A | CA1143934 | PKLR | c.1631G>T (p.Gly544Val) c.1538G>T (p.Gly513Val) c.1790G>T (p.Gly597Val) c.1439G>T (p.Gly480Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155290666C= | CA2481224827 | PKLR | c.1631G= (p.Gly544=) c.1538G= (p.Gly513=) c.1790G= (p.Gly597=) c.1439G= (p.Gly480=) | |
1 | g.155290666C>G | CA342748631 | PKLR | c.1631G>C (p.Gly544Ala) c.1538G>C (p.Gly513Ala) c.1790G>C (p.Gly597Ala) c.1439G>C (p.Gly480Ala) | |
1 | g.155290666C>T | CA342748634 | PKLR | c.1631G>A (p.Gly544Asp) c.1538G>A (p.Gly513Asp) c.1790G>A (p.Gly597Asp) c.1439G>A (p.Gly480Asp) | |
1 | g.155290667C>A | CA342748637 | PKLR | c.1630G>T (p.Gly544Cys) c.1537G>T (p.Gly513Cys) c.1789G>T (p.Gly597Cys) c.1438G>T (p.Gly480Cys) | |
1 | g.155290667C>G | CA342748635 | PKLR | c.1630G>C (p.Gly544Arg) c.1537G>C (p.Gly513Arg) c.1789G>C (p.Gly597Arg) c.1438G>C (p.Gly480Arg) | |
1 | g.155290667C>T | CA342748636 | PKLR | c.1630G>A (p.Gly544Ser) c.1537G>A (p.Gly513Ser) c.1789G>A (p.Gly597Ser) c.1438G>A (p.Gly480Ser) | |
1 | g.155290668_155290669del | CA2573915949 | PKLR | c.1629_1630del (p.Gly544LeufsTer?) c.1536_1537del (p.Gly513LeufsTer?) c.1788_1789del (p.Gly597LeufsTer?) c.1437_1438del (p.Gly480LeufsTer?) | |
1 | g.155290668A= | CA2481224828 | PKLR | c.1629T= (p.Arg543=) c.1536T= (p.Arg512=) c.1788T= (p.Arg596=) c.1437T= (p.Arg479=) | |
1 | g.155290668A>C | CA421019564 | PKLR | c.1629T>G (p.Arg543=) c.1536T>G (p.Arg512=) c.1788T>G (p.Arg596=) c.1437T>G (p.Arg479=) | |
1 | g.155290668A>G | CA1143935 | PKLR | c.1629T>C (p.Arg543=) c.1536T>C (p.Arg512=) c.1788T>C (p.Arg596=) c.1437T>C (p.Arg479=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155290668A>T | CA421019567 | PKLR | c.1629T>A (p.Arg543=) c.1536T>A (p.Arg512=) c.1788T>A (p.Arg596=) c.1437T>A (p.Arg479=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155290669C>A | CA342748645 | PKLR | c.1628G>T (p.Arg543Leu) c.1535G>T (p.Arg512Leu) c.1787G>T (p.Arg596Leu) c.1436G>T (p.Arg479Leu) | |
1 | g.155290669C= | CA2481224829 | PKLR | c.1628G= (p.Arg543=) c.1535G= (p.Arg512=) c.1787G= (p.Arg596=) c.1436G= (p.Arg479=) | |
1 | g.155290669C>G | CA342748647 | PKLR | c.1628G>C (p.Arg543Pro) c.1535G>C (p.Arg512Pro) c.1787G>C (p.Arg596Pro) c.1436G>C (p.Arg479Pro) | |
1 | g.155290669C>T | CA1143936 | PKLR | c.1628G>A (p.Arg543His) c.1535G>A (p.Arg512His) c.1787G>A (p.Arg596His) c.1436G>A (p.Arg479His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290670G>A | CA30899443 | PKLR | c.1627C>T (p.Arg543Cys) c.1534C>T (p.Arg512Cys) c.1786C>T (p.Arg596Cys) c.1435C>T (p.Arg479Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155290670G>C | CA342748653 | PKLR | c.1627C>G (p.Arg543Gly) c.1534C>G (p.Arg512Gly) c.1786C>G (p.Arg596Gly) c.1435C>G (p.Arg479Gly) | |
1 | g.155290670G= | CA2481224830 | PKLR | c.1627C= (p.Arg543=) c.1534C= (p.Arg512=) c.1786C= (p.Arg596=) c.1435C= (p.Arg479=) | |
1 | g.155290670G>T | CA342748656 | PKLR | c.1627C>A (p.Arg543Ser) c.1534C>A (p.Arg512Ser) c.1786C>A (p.Arg596Ser) c.1435C>A (p.Arg479Ser) | gnomAD v4 |
1 | g.155290671G>A | CA421019579 | PKLR | c.1626C>T (p.Leu542=) c.1533C>T (p.Leu511=) c.1785C>T (p.Leu595=) c.1434C>T (p.Leu478=) | gnomAD v4 |
1 | g.155290671G>C | CA421019580 | PKLR | c.1626C>G (p.Leu542=) c.1533C>G (p.Leu511=) c.1785C>G (p.Leu595=) c.1434C>G (p.Leu478=) | |
1 | g.155290671G>T | CA421019583 | PKLR | c.1626C>A (p.Leu542=) c.1533C>A (p.Leu511=) c.1785C>A (p.Leu595=) c.1434C>A (p.Leu478=) | |
1 | g.155290672A>C | CA342748657 | PKLR | c.1625T>G (p.Leu542Arg) c.1532T>G (p.Leu511Arg) c.1784T>G (p.Leu595Arg) c.1433T>G (p.Leu478Arg) | |
1 | g.155290672A>G | CA342748658 | PKLR | c.1625T>C (p.Leu542Pro) c.1532T>C (p.Leu511Pro) c.1784T>C (p.Leu595Pro) c.1433T>C (p.Leu478Pro) | gnomAD v4 |
1 | g.155290672A>T | CA342748659 | PKLR | c.1625T>A (p.Leu542His) c.1532T>A (p.Leu511His) c.1784T>A (p.Leu595His) c.1433T>A (p.Leu478His) | |
1 | g.155290673G>A | CA342748662 | PKLR | c.1624C>T (p.Leu542Phe) c.1531C>T (p.Leu511Phe) c.1783C>T (p.Leu595Phe) c.1432C>T (p.Leu478Phe) | dbSNP gnomAD v4 |
1 | g.155290673G>C | CA342748665 | PKLR | c.1624C>G (p.Leu542Val) c.1531C>G (p.Leu511Val) c.1783C>G (p.Leu595Val) c.1432C>G (p.Leu478Val) | |
1 | g.155290673G= | CA2481224831 | PKLR | c.1624C= (p.Leu542=) c.1531C= (p.Leu511=) c.1783C= (p.Leu595=) c.1432C= (p.Leu478=) | |
1 | g.155290673G>T | CA342748661 | PKLR | c.1624C>A (p.Leu542Ile) c.1531C>A (p.Leu511Ile) c.1783C>A (p.Leu595Ile) c.1432C>A (p.Leu478Ile) | gnomAD v4 |
1 | g.155290674C>A | CA342748666 | PKLR | c.1623G>T (p.Lys541Asn) c.1530G>T (p.Lys510Asn) c.1782G>T (p.Lys594Asn) c.1431G>T (p.Lys477Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155290674C= | CA2481224832 | PKLR | c.1623G= (p.Lys541=) c.1530G= (p.Lys510=) c.1782G= (p.Lys594=) c.1431G= (p.Lys477=) | |
1 | g.155290674C>G | CA342748668 | PKLR | c.1623G>C (p.Lys541Asn) c.1530G>C (p.Lys510Asn) c.1782G>C (p.Lys594Asn) c.1431G>C (p.Lys477Asn) | ClinVar |
1 | g.155290674C>T | CA421019590 | PKLR | c.1623G>A (p.Lys541=) c.1530G>A (p.Lys510=) c.1782G>A (p.Lys594=) c.1431G>A (p.Lys477=) | |
1 | g.155290675T>A | CA342748673 | PKLR | c.1622A>T (p.Lys541Met) c.1529A>T (p.Lys510Met) c.1781A>T (p.Lys594Met) c.1430A>T (p.Lys477Met) | |
1 | g.155290675T>C | CA342748675 | PKLR | c.1622A>G (p.Lys541Arg) c.1529A>G (p.Lys510Arg) c.1781A>G (p.Lys594Arg) c.1430A>G (p.Lys477Arg) | |
1 | g.155290675T>G | CA342748677 | PKLR | c.1622A>C (p.Lys541Thr) c.1529A>C (p.Lys510Thr) c.1781A>C (p.Lys594Thr) c.1430A>C (p.Lys477Thr) | |
1 | g.155290676T>A | CA342748683 | PKLR | c.1621A>T (p.Lys541Ter) c.1528A>T (p.Lys510Ter) c.1780A>T (p.Lys594Ter) c.1429A>T (p.Lys477Ter) | |
1 | g.155290676T>C | CA342748684 | PKLR | c.1621A>G (p.Lys541Glu) c.1528A>G (p.Lys510Glu) c.1780A>G (p.Lys594Glu) c.1429A>G (p.Lys477Glu) | gnomAD v4 |
1 | g.155290676T>G | CA342748688 | PKLR | c.1621A>C (p.Lys541Gln) c.1528A>C (p.Lys510Gln) c.1780A>C (p.Lys594Gln) c.1429A>C (p.Lys477Gln) | |
1 | g.155290677T>A | CA421019602 | PKLR | c.1620A>T (p.Gly540=) c.1527A>T (p.Gly509=) c.1779A>T (p.Gly593=) c.1428A>T (p.Gly476=) | |
1 | g.155290677T>C | CA421019600 | PKLR | c.1620A>G (p.Gly540=) c.1527A>G (p.Gly509=) c.1779A>G (p.Gly593=) c.1428A>G (p.Gly476=) | |
1 | g.155290677T>G | CA421019598 | PKLR | c.1620A>C (p.Gly540=) c.1527A>C (p.Gly509=) c.1779A>C (p.Gly593=) c.1428A>C (p.Gly476=) | |
1 | g.155290678C>A | CA342748691 | PKLR | c.1619G>T (p.Gly540Val) c.1526G>T (p.Gly509Val) c.1778G>T (p.Gly593Val) c.1427G>T (p.Gly476Val) | |
1 | g.155290678C>G | CA342748693 | PKLR | c.1619G>C (p.Gly540Ala) c.1526G>C (p.Gly509Ala) c.1778G>C (p.Gly593Ala) c.1427G>C (p.Gly476Ala) | |
1 | g.155290678C>T | CA342748696 | PKLR | c.1619G>A (p.Gly540Glu) c.1526G>A (p.Gly509Glu) c.1778G>A (p.Gly593Glu) c.1427G>A (p.Gly476Glu) | gnomAD v4 |
1 | g.155290679C>A | CA342748701 | PKLR | c.1619-1G>T (n.1619-1G>T) c.1526-1G>T (n.1526-1G>T) c.1778-1G>T (n.1778-1G>T) c.1427-1G>T (n.1427-1G>T) | |
1 | g.155290679C= | CA2481224833 | PKLR | c.1619-1G= (n.1619-1G=) c.1526-1G= (n.1526-1G=) c.1778-1G= (n.1778-1G=) c.1427-1G= (n.1427-1G=) | |
1 | g.155290679C>G | CA342748704 | PKLR | c.1619-1G>C (n.1619-1G>C) c.1526-1G>C (n.1526-1G>C) c.1778-1G>C (n.1778-1G>C) c.1427-1G>C (n.1427-1G>C) | |
1 | g.155290679C>T | CA1143937 | PKLR | c.1619-1G>A (n.1619-1G>A) c.1526-1G>A (n.1526-1G>A) c.1778-1G>A (n.1778-1G>A) c.1427-1G>A (n.1427-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155290680T>A | CA342748707 | PKLR | c.1619-2A>T (n.1619-2A>T) c.1526-2A>T (n.1526-2A>T) c.1778-2A>T (n.1778-2A>T) c.1427-2A>T (n.1427-2A>T) | |
1 | g.155290680T>C | CA342748717 | PKLR | c.1619-2A>G (n.1619-2A>G) c.1526-2A>G (n.1526-2A>G) c.1778-2A>G (n.1778-2A>G) c.1427-2A>G (n.1427-2A>G) | |
1 | g.155290680T>G | CA342748718 | PKLR | c.1619-2A>C (n.1619-2A>C) c.1526-2A>C (n.1526-2A>C) c.1778-2A>C (n.1778-2A>C) c.1427-2A>C (n.1427-2A>C) | gnomAD v4 |
1 | g.155290680T= | CA2481224834 | PKLR | c.1619-2A= (n.1619-2A=) c.1526-2A= (n.1526-2A=) c.1778-2A= (n.1778-2A=) c.1427-2A= (n.1427-2A=) | |
1 | g.155290681G>A | CA2648267114 | PKLR | c.1619-3C>T (n.1619-3C>T) c.1526-3C>T (n.1526-3C>T) c.1778-3C>T (n.1778-3C>T) c.1427-3C>T (n.1427-3C>T) | gnomAD v4 |
1 | g.155290681G>C | CA889655357 | PKLR | c.1619-3C>G (n.1619-3C>G) c.1526-3C>G (n.1526-3C>G) c.1778-3C>G (n.1778-3C>G) c.1427-3C>G (n.1427-3C>G) | dbSNP |
1 | g.155290681G= | CA2481224835 | PKLR | c.1619-3C= (n.1619-3C=) c.1526-3C= (n.1526-3C=) c.1778-3C= (n.1778-3C=) c.1427-3C= (n.1427-3C=) | |
1 | g.155290681G>T | CA1143938 | PKLR | c.1619-3C>A (n.1619-3C>A) c.1526-3C>A (n.1526-3C>A) c.1778-3C>A (n.1778-3C>A) c.1427-3C>A (n.1427-3C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290685dup | CA889655355 | PKLR | c.1619-3dup (n.1619-3dup) c.1526-3dup (n.1526-3dup) c.1778-3dup (n.1778-3dup) c.1427-3dup (n.1427-3dup) | dbSNP gnomAD v4 |
1 | g.155290685del | CA645531866 | PKLR | c.1619-3del (n.1619-3del) c.1526-3del (n.1526-3del) c.1778-3del (n.1778-3del) c.1427-3del (n.1427-3del) | gnomAD v4 COSMIC |
1 | g.155290682G>A | CA2648267124 | PKLR | c.1619-4C>T (n.1619-4C>T) c.1526-4C>T (n.1526-4C>T) c.1778-4C>T (n.1778-4C>T) c.1427-4C>T (n.1427-4C>T) | gnomAD v4 |
1 | g.155290682G>C | CA2648267119 | PKLR | c.1619-4C>G (n.1619-4C>G) c.1526-4C>G (n.1526-4C>G) c.1778-4C>G (n.1778-4C>G) c.1427-4C>G (n.1427-4C>G) | gnomAD v4 |
1 | g.155290682G>T | CA2648267121 | PKLR | c.1619-4C>A (n.1619-4C>A) c.1526-4C>A (n.1526-4C>A) c.1778-4C>A (n.1778-4C>A) c.1427-4C>A (n.1427-4C>A) | gnomAD v4 |
1 | g.155290683G>A | CA2648267129 | PKLR | c.1619-5C>T (n.1619-5C>T) c.1526-5C>T (n.1526-5C>T) c.1778-5C>T (n.1778-5C>T) c.1427-5C>T (n.1427-5C>T) | gnomAD v4 |
1 | g.155290683G>T | CA2573915961 | PKLR | c.1619-5C>A (n.1619-5C>A) c.1526-5C>A (n.1526-5C>A) c.1778-5C>A (n.1778-5C>A) c.1427-5C>A (n.1427-5C>A) | gnomAD v4 |
1 | g.155290684G>A | CA30899452 | PKLR | c.1619-6C>T (n.1619-6C>T) c.1526-6C>T (n.1526-6C>T) c.1778-6C>T (n.1778-6C>T) c.1427-6C>T (n.1427-6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.155290684G= | CA1143986803 | PKLR | c.1619-6C= (n.1619-6C=) c.1526-6C= (n.1526-6C=) c.1778-6C= (n.1778-6C=) c.1427-6C= (n.1427-6C=) | |
1 | g.155290684G>T | CA2648267134 | PKLR | c.1619-6C>A (n.1619-6C>A) c.1526-6C>A (n.1526-6C>A) c.1778-6C>A (n.1778-6C>A) c.1427-6C>A (n.1427-6C>A) | gnomAD v4 |
1 | g.155290685G>A | CA526429865 | PKLR | c.1619-7C>T (n.1619-7C>T) c.1526-7C>T (n.1526-7C>T) c.1778-7C>T (n.1778-7C>T) c.1427-7C>T (n.1427-7C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290685G= | CA2481224836 | PKLR | c.1619-7C= (n.1619-7C=) c.1526-7C= (n.1526-7C=) c.1778-7C= (n.1778-7C=) c.1427-7C= (n.1427-7C=) | |
1 | g.155290685G>T | CA2648267138 | PKLR | c.1619-7C>A (n.1619-7C>A) c.1526-7C>A (n.1526-7C>A) c.1778-7C>A (n.1778-7C>A) c.1427-7C>A (n.1427-7C>A) | gnomAD v4 |
1 | g.155290686del | CA2648267140 | PKLR | c.1619-8del (n.1619-8del) c.1526-8del (n.1526-8del) c.1778-8del (n.1778-8del) c.1427-8del (n.1427-8del) | gnomAD v4 |
1 | g.155290686A>G | CA2573916010 | PKLR | c.1619-8T>C (n.1619-8T>C) c.1526-8T>C (n.1526-8T>C) c.1778-8T>C (n.1778-8T>C) c.1427-8T>C (n.1427-8T>C) | gnomAD v4 |
1 | g.155290687G>A | CA2573568232 | PKLR | c.1619-9C>T (n.1619-9C>T) c.1526-9C>T (n.1526-9C>T) c.1778-9C>T (n.1778-9C>T) c.1427-9C>T (n.1427-9C>T) | gnomAD v4 |
1 | g.155290687G>T | CA2648267143 | PKLR | c.1619-9C>A (n.1619-9C>A) c.1526-9C>A (n.1526-9C>A) c.1778-9C>A (n.1778-9C>A) c.1427-9C>A (n.1427-9C>A) | gnomAD v4 |
1 | g.155290688G>A | CA1007984845 | PKLR | c.1619-10C>T (n.1619-10C>T) c.1526-10C>T (n.1526-10C>T) c.1778-10C>T (n.1778-10C>T) c.1427-10C>T (n.1427-10C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155290688G= | CA2481224837 | PKLR | c.1619-10C= (n.1619-10C=) c.1526-10C= (n.1526-10C=) c.1778-10C= (n.1778-10C=) c.1427-10C= (n.1427-10C=) | |
1 | g.155290688G>T | CA2648267145 | PKLR | c.1619-10C>A (n.1619-10C>A) c.1526-10C>A (n.1526-10C>A) c.1778-10C>A (n.1778-10C>A) c.1427-10C>A (n.1427-10C>A) | gnomAD v4 |
1 | g.155290689G>A | CA526429867 | PKLR | c.1619-11C>T (n.1619-11C>T) c.1526-11C>T (n.1526-11C>T) c.1778-11C>T (n.1778-11C>T) c.1427-11C>T (n.1427-11C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155290689G= | CA2481224838 | PKLR | c.1619-11C= (n.1619-11C=) c.1526-11C= (n.1526-11C=) c.1778-11C= (n.1778-11C=) c.1427-11C= (n.1427-11C=) | |
1 | g.155290689G>T | CA2573916016 | PKLR | c.1619-11C>A (n.1619-11C>A) c.1526-11C>A (n.1526-11C>A) c.1778-11C>A (n.1778-11C>A) c.1427-11C>A (n.1427-11C>A) | gnomAD v4 |
1 | g.155290690A= | CA2481224839 | PKLR | c.1619-12T= (n.1619-12T=) c.1526-12T= (n.1526-12T=) c.1778-12T= (n.1778-12T=) c.1427-12T= (n.1427-12T=) | |
1 | g.155290690A>C | CA2481224840 | PKLR | c.1619-12T>G (n.1619-12T>G) c.1526-12T>G (n.1526-12T>G) c.1778-12T>G (n.1778-12T>G) c.1427-12T>G (n.1427-12T>G) | dbSNP |
1 | g.155290690A>T | CA2648267156 | PKLR | c.1619-12T>A (n.1619-12T>A) c.1526-12T>A (n.1526-12T>A) c.1778-12T>A (n.1778-12T>A) c.1427-12T>A (n.1427-12T>A) | gnomAD v4 |
1 | g.155290691A= | CA2481224841 | PKLR | c.1619-13T= (n.1619-13T=) c.1526-13T= (n.1526-13T=) c.1778-13T= (n.1778-13T=) c.1427-13T= (n.1427-13T=) | |
1 | g.155290691A>G | CA526429868 | PKLR | c.1619-13T>C (n.1619-13T>C) c.1526-13T>C (n.1526-13T>C) c.1778-13T>C (n.1778-13T>C) c.1427-13T>C (n.1427-13T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155290693G>A | CA2648267160 | PKLR | c.1619-15C>T (n.1619-15C>T) c.1526-15C>T (n.1526-15C>T) c.1778-15C>T (n.1778-15C>T) c.1427-15C>T (n.1427-15C>T) | gnomAD v4 |
1 | g.155290693G>T | CA2648267162 | PKLR | c.1619-15C>A (n.1619-15C>A) c.1526-15C>A (n.1526-15C>A) c.1778-15C>A (n.1778-15C>A) c.1427-15C>A (n.1427-15C>A) | gnomAD v4 |
1 | g.155290694A>C | CA2648267164 | PKLR | c.1619-16T>G (n.1619-16T>G) c.1526-16T>G (n.1526-16T>G) c.1778-16T>G (n.1778-16T>G) c.1427-16T>G (n.1427-16T>G) | gnomAD v4 |
1 | g.155290694A>G | CA2648267166 | PKLR | c.1619-16T>C (n.1619-16T>C) c.1526-16T>C (n.1526-16T>C) c.1778-16T>C (n.1778-16T>C) c.1427-16T>C (n.1427-16T>C) | gnomAD v4 |
1 | g.155290695A>G | CA2648267167 | PKLR | c.1619-17T>C (n.1619-17T>C) c.1526-17T>C (n.1526-17T>C) c.1778-17T>C (n.1778-17T>C) c.1427-17T>C (n.1427-17T>C) | gnomAD v4 |
1 | g.155290696A>G | CA2648267168 | PKLR | c.1619-18T>C (n.1619-18T>C) c.1526-18T>C (n.1526-18T>C) c.1778-18T>C (n.1778-18T>C) c.1427-18T>C (n.1427-18T>C) | gnomAD v4 |
1 | g.155290697A>G | CA2746210343 | PKLR | c.1619-19T>C (n.1619-19T>C) c.1526-19T>C (n.1526-19T>C) c.1778-19T>C (n.1778-19T>C) c.1427-19T>C (n.1427-19T>C) | |
1 | g.155290700A>C | CA2573916017 | PKLR | c.1619-22T>G (n.1619-22T>G) c.1526-22T>G (n.1526-22T>G) c.1778-22T>G (n.1778-22T>G) c.1427-22T>G (n.1427-22T>G) | |
1 | g.155290700A>G | CA2648267169 | PKLR | c.1619-22T>C (n.1619-22T>C) c.1526-22T>C (n.1526-22T>C) c.1778-22T>C (n.1778-22T>C) c.1427-22T>C (n.1427-22T>C) | gnomAD v4 |
1 | g.155290700A>T | CA2648267170 | PKLR | c.1619-22T>A (n.1619-22T>A) c.1526-22T>A (n.1526-22T>A) c.1778-22T>A (n.1778-22T>A) c.1427-22T>A (n.1427-22T>A) | gnomAD v4 |
1 | g.155290701A>C | CA2648267172 | PKLR | c.1619-23T>G (n.1619-23T>G) c.1526-23T>G (n.1526-23T>G) c.1778-23T>G (n.1778-23T>G) c.1427-23T>G (n.1427-23T>G) | gnomAD v4 |
1 | g.155290701A>G | CA2648267173 | PKLR | c.1619-23T>C (n.1619-23T>C) c.1526-23T>C (n.1526-23T>C) c.1778-23T>C (n.1778-23T>C) c.1427-23T>C (n.1427-23T>C) | gnomAD v4 |
1 | g.155290702T>A | CA2746210344 | PKLR | c.1619-24A>T (n.1619-24A>T) c.1526-24A>T (n.1526-24A>T) c.1778-24A>T (n.1778-24A>T) c.1427-24A>T (n.1427-24A>T) | |
1 | g.155290702T>C | CA2648267175 | PKLR | c.1619-24A>G (n.1619-24A>G) c.1526-24A>G (n.1526-24A>G) c.1778-24A>G (n.1778-24A>G) c.1427-24A>G (n.1427-24A>G) | gnomAD v4 |
1 | g.155290703C>T | CA2746210345 | PKLR | c.1619-25G>A (n.1619-25G>A) c.1526-25G>A (n.1526-25G>A) c.1778-25G>A (n.1778-25G>A) c.1427-25G>A (n.1427-25G>A) | |
1 | g.155290704A>G | CA2648267177 | PKLR | c.1619-26T>C (n.1619-26T>C) c.1526-26T>C (n.1526-26T>C) c.1778-26T>C (n.1778-26T>C) c.1427-26T>C (n.1427-26T>C) | gnomAD v4 |
1 | g.155290705T>C | CA1007984846 | PKLR | c.1619-27A>G (n.1619-27A>G) c.1526-27A>G (n.1526-27A>G) c.1778-27A>G (n.1778-27A>G) c.1427-27A>G (n.1427-27A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155290705T= | CA2481224842 | PKLR | c.1619-27A= (n.1619-27A=) c.1526-27A= (n.1526-27A=) c.1778-27A= (n.1778-27A=) c.1427-27A= (n.1427-27A=) | |
1 | g.155290707G>A | CA2648267179 | PKLR | c.1619-29C>T (n.1619-29C>T) c.1526-29C>T (n.1526-29C>T) c.1778-29C>T (n.1778-29C>T) c.1427-29C>T (n.1427-29C>T) | gnomAD v4 |
1 | g.155290707G>T | CA2648267180 | PKLR | c.1619-29C>A (n.1619-29C>A) c.1526-29C>A (n.1526-29C>A) c.1778-29C>A (n.1778-29C>A) c.1427-29C>A (n.1427-29C>A) | gnomAD v4 |
1 | g.155290708G>T | CA2573568233 | PKLR | c.1619-30C>A (n.1619-30C>A) c.1526-30C>A (n.1526-30C>A) c.1778-30C>A (n.1778-30C>A) c.1427-30C>A (n.1427-30C>A) | gnomAD v4 |
1 | g.155290710C= | CA2481224843 | PKLR | c.1619-32G= (n.1619-32G=) c.1526-32G= (n.1526-32G=) c.1778-32G= (n.1778-32G=) c.1427-32G= (n.1427-32G=) | |
1 | g.155290710C>G | CA2481224844 | PKLR | c.1619-32G>C (n.1619-32G>C) c.1526-32G>C (n.1526-32G>C) c.1778-32G>C (n.1778-32G>C) c.1427-32G>C (n.1427-32G>C) | dbSNP |
1 | g.155290710C>T | CA1007984847 | PKLR | c.1619-32G>A (n.1619-32G>A) c.1526-32G>A (n.1526-32G>A) c.1778-32G>A (n.1778-32G>A) c.1427-32G>A (n.1427-32G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155290711A= | CA2481224845 | PKLR | c.1619-33T= (n.1619-33T=) c.1526-33T= (n.1526-33T=) c.1778-33T= (n.1778-33T=) c.1427-33T= (n.1427-33T=) | |
1 | g.155290711A>C | CA1143939 | PKLR | c.1619-33T>G (n.1619-33T>G) c.1526-33T>G (n.1526-33T>G) c.1778-33T>G (n.1778-33T>G) c.1427-33T>G (n.1427-33T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155290711A>G | CA2573916020 | PKLR | c.1619-33T>C (n.1619-33T>C) c.1526-33T>C (n.1526-33T>C) c.1778-33T>C (n.1778-33T>C) c.1427-33T>C (n.1427-33T>C) | |
1 | g.155290712G>A | CA2648267188 | PKLR | c.1619-34C>T (n.1619-34C>T) c.1526-34C>T (n.1526-34C>T) c.1778-34C>T (n.1778-34C>T) c.1427-34C>T (n.1427-34C>T) | gnomAD v4 |
1 | g.155290712G>C | CA889655363 | PKLR | c.1619-34C>G (n.1619-34C>G) c.1526-34C>G (n.1526-34C>G) c.1778-34C>G (n.1778-34C>G) c.1427-34C>G (n.1427-34C>G) | dbSNP |
1 | g.155290712G= | CA2481224846 | PKLR | c.1619-34C= (n.1619-34C=) c.1526-34C= (n.1526-34C=) c.1778-34C= (n.1778-34C=) c.1427-34C= (n.1427-34C=) | |
1 | g.155290712G>T | CA2573916110 | PKLR | c.1619-34C>A (n.1619-34C>A) c.1526-34C>A (n.1526-34C>A) c.1778-34C>A (n.1778-34C>A) c.1427-34C>A (n.1427-34C>A) | gnomAD v4 |
1 | g.155290713G= | CA1144125340 | PKLR | c.1619-35C= (n.1619-35C=) c.1526-35C= (n.1526-35C=) c.1778-35C= (n.1778-35C=) c.1427-35C= (n.1427-35C=) | |
1 | g.155290713G>T | CA1143940 | PKLR | c.1619-35C>A (n.1619-35C>A) c.1526-35C>A (n.1526-35C>A) c.1778-35C>A (n.1778-35C>A) c.1427-35C>A (n.1427-35C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290714T>A | CA526429874 | PKLR | c.1619-36A>T (n.1619-36A>T) c.1526-36A>T (n.1526-36A>T) c.1778-36A>T (n.1778-36A>T) c.1427-36A>T (n.1427-36A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155290714T>G | CA526429875 | PKLR | c.1619-36A>C (n.1619-36A>C) c.1526-36A>C (n.1526-36A>C) c.1778-36A>C (n.1778-36A>C) c.1427-36A>C (n.1427-36A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155290714T= | CA2481224847 | PKLR | c.1619-36A= (n.1619-36A=) c.1526-36A= (n.1526-36A=) c.1778-36A= (n.1778-36A=) c.1427-36A= (n.1427-36A=) | |
1 | g.155290715G>A | CA2648267199 | PKLR | c.1619-37C>T (n.1619-37C>T) c.1526-37C>T (n.1526-37C>T) c.1778-37C>T (n.1778-37C>T) c.1427-37C>T (n.1427-37C>T) | gnomAD v4 |
1 | g.155290715G>T | CA2839099530 | PKLR | c.1619-37C>A (n.1619-37C>A) c.1526-37C>A (n.1526-37C>A) c.1778-37C>A (n.1778-37C>A) c.1427-37C>A (n.1427-37C>A) |