| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6471003C>A | CA338127490 | PLEKHG5 | c.1379G>T (p.Arg460Leu) c.1553G>T (p.Arg518Leu) c.1490G>T (p.Arg497Leu) n.1855G>T c.1586G>T (p.Arg529Leu) c.1676G>T (p.Arg559Leu) n.412G>T c.*1591G>T (n.*1591G>T) c.*1207G>T (n.*1207G>T) c.1610G>T (p.Arg537Leu) c.1547G>T (p.Arg516Leu) n.581G>T c.1616G>T (p.Arg539Leu) | gnomAD v4 |
| 1 | g.6471003C= | CA1151526415 | PLEKHG5 | c.1379G= (p.Arg460=) c.1553G= (p.Arg518=) c.1490G= (p.Arg497=) n.1855G= c.1586G= (p.Arg529=) c.1676G= (p.Arg559=) n.412G= c.*1591G= (n.*1591G=) c.*1207G= (n.*1207G=) c.1610G= (p.Arg537=) c.1547G= (p.Arg516=) n.581G= c.1616G= (p.Arg539=) | |
| 1 | g.6471003C>G | CA338127492 | PLEKHG5 | c.1379G>C (p.Arg460Pro) c.1553G>C (p.Arg518Pro) c.1490G>C (p.Arg497Pro) n.1855G>C c.1586G>C (p.Arg529Pro) c.1676G>C (p.Arg559Pro) n.412G>C c.*1591G>C (n.*1591G>C) c.*1207G>C (n.*1207G>C) c.1610G>C (p.Arg537Pro) c.1547G>C (p.Arg516Pro) n.581G>C c.1616G>C (p.Arg539Pro) | |
| 1 | g.6471003C>T | CA338127487 | PLEKHG5 | c.1379G>A (p.Arg460Gln) c.1553G>A (p.Arg518Gln) c.1490G>A (p.Arg497Gln) n.1855G>A c.1586G>A (p.Arg529Gln) c.1676G>A (p.Arg559Gln) n.412G>A c.*1591G>A (n.*1591G>A) c.*1207G>A (n.*1207G>A) c.1610G>A (p.Arg537Gln) c.1547G>A (p.Arg516Gln) n.581G>A c.1616G>A (p.Arg539Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471004G>A | CA338127499 | PLEKHG5 | c.1378C>T (p.Arg460Trp) c.1552C>T (p.Arg518Trp) c.1489C>T (p.Arg497Trp) n.1854C>T c.1585C>T (p.Arg529Trp) c.1675C>T (p.Arg559Trp) n.411C>T c.*1590C>T (n.*1590C>T) c.*1206C>T (n.*1206C>T) c.1609C>T (p.Arg537Trp) c.1546C>T (p.Arg516Trp) n.580C>T c.1615C>T (p.Arg539Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471004G>C | CA338127497 | PLEKHG5 | c.1378C>G (p.Arg460Gly) c.1552C>G (p.Arg518Gly) c.1489C>G (p.Arg497Gly) n.1854C>G c.1585C>G (p.Arg529Gly) c.1675C>G (p.Arg559Gly) n.411C>G c.*1590C>G (n.*1590C>G) c.*1206C>G (n.*1206C>G) c.1609C>G (p.Arg537Gly) c.1546C>G (p.Arg516Gly) n.580C>G c.1615C>G (p.Arg539Gly) | |
| 1 | g.6471004G= | CA1151526424 | PLEKHG5 | c.1378C= (p.Arg460=) c.1552C= (p.Arg518=) c.1489C= (p.Arg497=) n.1854C= c.1585C= (p.Arg529=) c.1675C= (p.Arg559=) n.411C= c.*1590C= (n.*1590C=) c.*1206C= (n.*1206C=) c.1609C= (p.Arg537=) c.1546C= (p.Arg516=) n.580C= c.1615C= (p.Arg539=) | |
| 1 | g.6471004G>T | CA416022929 | PLEKHG5 | c.1378C>A (p.Arg460=) c.1552C>A (p.Arg518=) c.1489C>A (p.Arg497=) n.1854C>A c.1585C>A (p.Arg529=) c.1675C>A (p.Arg559=) n.411C>A c.*1590C>A (n.*1590C>A) c.*1206C>A (n.*1206C>A) c.1609C>A (p.Arg537=) c.1546C>A (p.Arg516=) n.580C>A c.1615C>A (p.Arg539=) | gnomAD v4 |
| 1 | g.6471005G>A | CA416022930 | PLEKHG5 | c.1377C>T (p.Phe459=) c.1551C>T (p.Phe517=) c.1488C>T (p.Phe496=) n.1853C>T c.1584C>T (p.Phe528=) c.1674C>T (p.Phe558=) n.410C>T c.*1589C>T (n.*1589C>T) c.*1205C>T (n.*1205C>T) c.1608C>T (p.Phe536=) c.1545C>T (p.Phe515=) n.579C>T c.1614C>T (p.Phe538=) | ClinVar gnomAD v4 |
| 1 | g.6471005G>C | CA338127502 | PLEKHG5 | c.1377C>G (p.Phe459Leu) c.1551C>G (p.Phe517Leu) c.1488C>G (p.Phe496Leu) n.1853C>G c.1584C>G (p.Phe528Leu) c.1674C>G (p.Phe558Leu) n.410C>G c.*1589C>G (n.*1589C>G) c.*1205C>G (n.*1205C>G) c.1608C>G (p.Phe536Leu) c.1545C>G (p.Phe515Leu) n.579C>G c.1614C>G (p.Phe538Leu) | |
| 1 | g.6471005G= | CA1151526432 | PLEKHG5 | c.1377C= (p.Phe459=) c.1551C= (p.Phe517=) c.1488C= (p.Phe496=) n.1853C= c.1584C= (p.Phe528=) c.1674C= (p.Phe558=) n.410C= c.*1589C= (n.*1589C=) c.*1205C= (n.*1205C=) c.1608C= (p.Phe536=) c.1545C= (p.Phe515=) n.579C= c.1614C= (p.Phe538=) | |
| 1 | g.6471005G>T | CA338127503 | PLEKHG5 | c.1377C>A (p.Phe459Leu) c.1551C>A (p.Phe517Leu) c.1488C>A (p.Phe496Leu) n.1853C>A c.1584C>A (p.Phe528Leu) c.1674C>A (p.Phe558Leu) n.410C>A c.*1589C>A (n.*1589C>A) c.*1205C>A (n.*1205C>A) c.1608C>A (p.Phe536Leu) c.1545C>A (p.Phe515Leu) n.579C>A c.1614C>A (p.Phe538Leu) | dbSNP gnomAD v4 |
| 1 | g.6471006A>C | CA338127509 | PLEKHG5 | c.1376T>G (p.Phe459Cys) c.1550T>G (p.Phe517Cys) c.1487T>G (p.Phe496Cys) n.1852T>G c.1583T>G (p.Phe528Cys) c.1673T>G (p.Phe558Cys) n.409T>G c.*1588T>G (n.*1588T>G) c.*1204T>G (n.*1204T>G) c.1607T>G (p.Phe536Cys) c.1544T>G (p.Phe515Cys) n.578T>G c.1613T>G (p.Phe538Cys) | |
| 1 | g.6471006A>G | CA338127512 | PLEKHG5 | c.1376T>C (p.Phe459Ser) c.1550T>C (p.Phe517Ser) c.1487T>C (p.Phe496Ser) n.1852T>C c.1583T>C (p.Phe528Ser) c.1673T>C (p.Phe558Ser) n.409T>C c.*1588T>C (n.*1588T>C) c.*1204T>C (n.*1204T>C) c.1607T>C (p.Phe536Ser) c.1544T>C (p.Phe515Ser) n.578T>C c.1613T>C (p.Phe538Ser) | |
| 1 | g.6471006A>T | CA338127515 | PLEKHG5 | c.1376T>A (p.Phe459Tyr) c.1550T>A (p.Phe517Tyr) c.1487T>A (p.Phe496Tyr) n.1852T>A c.1583T>A (p.Phe528Tyr) c.1673T>A (p.Phe558Tyr) n.409T>A c.*1588T>A (n.*1588T>A) c.*1204T>A (n.*1204T>A) c.1607T>A (p.Phe536Tyr) c.1544T>A (p.Phe515Tyr) n.578T>A c.1613T>A (p.Phe538Tyr) | |
| 1 | g.6471007A= | CA1151526443 | PLEKHG5 | c.1375T= (p.Phe459=) c.1549T= (p.Phe517=) c.1486T= (p.Phe496=) n.1851T= c.1582T= (p.Phe528=) c.1672T= (p.Phe558=) n.408T= c.*1587T= (n.*1587T=) c.*1203T= (n.*1203T=) c.1606T= (p.Phe536=) c.1543T= (p.Phe515=) n.577T= c.1612T= (p.Phe538=) | |
| 1 | g.6471007A>C | CA338127530 | PLEKHG5 | c.1375T>G (p.Phe459Val) c.1549T>G (p.Phe517Val) c.1486T>G (p.Phe496Val) n.1851T>G c.1582T>G (p.Phe528Val) c.1672T>G (p.Phe558Val) n.408T>G c.*1587T>G (n.*1587T>G) c.*1203T>G (n.*1203T>G) c.1606T>G (p.Phe536Val) c.1543T>G (p.Phe515Val) n.577T>G c.1612T>G (p.Phe538Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6471007A>G | CA338127526 | PLEKHG5 | c.1375T>C (p.Phe459Leu) c.1549T>C (p.Phe517Leu) c.1486T>C (p.Phe496Leu) n.1851T>C c.1582T>C (p.Phe528Leu) c.1672T>C (p.Phe558Leu) n.408T>C c.*1587T>C (n.*1587T>C) c.*1203T>C (n.*1203T>C) c.1606T>C (p.Phe536Leu) c.1543T>C (p.Phe515Leu) n.577T>C c.1612T>C (p.Phe538Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471007A>T | CA338127525 | PLEKHG5 | c.1375T>A (p.Phe459Ile) c.1549T>A (p.Phe517Ile) c.1486T>A (p.Phe496Ile) n.1851T>A c.1582T>A (p.Phe528Ile) c.1672T>A (p.Phe558Ile) n.408T>A c.*1587T>A (n.*1587T>A) c.*1203T>A (n.*1203T>A) c.1606T>A (p.Phe536Ile) c.1543T>A (p.Phe515Ile) n.577T>A c.1612T>A (p.Phe538Ile) | |
| 1 | g.6471008G>A | CA416022934 | PLEKHG5 | c.1374C>T (p.Leu458=) c.1548C>T (p.Leu516=) c.1485C>T (p.Leu495=) n.1850C>T c.1581C>T (p.Leu527=) c.1671C>T (p.Leu557=) n.407C>T c.*1586C>T (n.*1586C>T) c.*1202C>T (n.*1202C>T) c.1605C>T (p.Leu535=) c.1542C>T (p.Leu514=) n.576C>T c.1611C>T (p.Leu537=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471008G>C | CA416022935 | PLEKHG5 | c.1374C>G (p.Leu458=) c.1548C>G (p.Leu516=) c.1485C>G (p.Leu495=) n.1850C>G c.1581C>G (p.Leu527=) c.1671C>G (p.Leu557=) n.407C>G c.*1586C>G (n.*1586C>G) c.*1202C>G (n.*1202C>G) c.1605C>G (p.Leu535=) c.1542C>G (p.Leu514=) n.576C>G c.1611C>G (p.Leu537=) | |
| 1 | g.6471008G= | CA1151526459 | PLEKHG5 | c.1374C= (p.Leu458=) c.1548C= (p.Leu516=) c.1485C= (p.Leu495=) n.1850C= c.1581C= (p.Leu527=) c.1671C= (p.Leu557=) n.407C= c.*1586C= (n.*1586C=) c.*1202C= (n.*1202C=) c.1605C= (p.Leu535=) c.1542C= (p.Leu514=) n.576C= c.1611C= (p.Leu537=) | |
| 1 | g.6471008G>T | CA416022936 | PLEKHG5 | c.1374C>A (p.Leu458=) c.1548C>A (p.Leu516=) c.1485C>A (p.Leu495=) n.1850C>A c.1581C>A (p.Leu527=) c.1671C>A (p.Leu557=) n.407C>A c.*1586C>A (n.*1586C>A) c.*1202C>A (n.*1202C>A) c.1605C>A (p.Leu535=) c.1542C>A (p.Leu514=) n.576C>A c.1611C>A (p.Leu537=) | gnomAD v4 |
| 1 | g.6471009A>C | CA338127533 | PLEKHG5 | c.1373T>G (p.Leu458Arg) c.1547T>G (p.Leu516Arg) c.1484T>G (p.Leu495Arg) n.1849T>G c.1580T>G (p.Leu527Arg) c.1670T>G (p.Leu557Arg) n.406T>G c.*1585T>G (n.*1585T>G) c.*1201T>G (n.*1201T>G) c.1604T>G (p.Leu535Arg) c.1541T>G (p.Leu514Arg) n.575T>G c.1610T>G (p.Leu537Arg) | |
| 1 | g.6471009A>G | CA338127544 | PLEKHG5 | c.1373T>C (p.Leu458Pro) c.1547T>C (p.Leu516Pro) c.1484T>C (p.Leu495Pro) n.1849T>C c.1580T>C (p.Leu527Pro) c.1670T>C (p.Leu557Pro) n.406T>C c.*1585T>C (n.*1585T>C) c.*1201T>C (n.*1201T>C) c.1604T>C (p.Leu535Pro) c.1541T>C (p.Leu514Pro) n.575T>C c.1610T>C (p.Leu537Pro) | gnomAD v4 |
| 1 | g.6471009A>T | CA338127547 | PLEKHG5 | c.1373T>A (p.Leu458His) c.1547T>A (p.Leu516His) c.1484T>A (p.Leu495His) n.1849T>A c.1580T>A (p.Leu527His) c.1670T>A (p.Leu557His) n.406T>A c.*1585T>A (n.*1585T>A) c.*1201T>A (n.*1201T>A) c.1604T>A (p.Leu535His) c.1541T>A (p.Leu514His) n.575T>A c.1610T>A (p.Leu537His) | |
| 1 | g.6471010G>A | CA338127551 | PLEKHG5 | c.1372C>T (p.Leu458Phe) c.1546C>T (p.Leu516Phe) c.1483C>T (p.Leu495Phe) n.1848C>T c.1579C>T (p.Leu527Phe) c.1669C>T (p.Leu557Phe) n.405C>T c.*1584C>T (n.*1584C>T) c.*1200C>T (n.*1200C>T) c.1603C>T (p.Leu535Phe) c.1540C>T (p.Leu514Phe) n.574C>T c.1609C>T (p.Leu537Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471010G>C | CA338127552 | PLEKHG5 | c.1372C>G (p.Leu458Val) c.1546C>G (p.Leu516Val) c.1483C>G (p.Leu495Val) n.1848C>G c.1579C>G (p.Leu527Val) c.1669C>G (p.Leu557Val) n.405C>G c.*1584C>G (n.*1584C>G) c.*1200C>G (n.*1200C>G) c.1603C>G (p.Leu535Val) c.1540C>G (p.Leu514Val) n.574C>G c.1609C>G (p.Leu537Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471010G= | CA1151526463 | PLEKHG5 | c.1372C= (p.Leu458=) c.1546C= (p.Leu516=) c.1483C= (p.Leu495=) n.1848C= c.1579C= (p.Leu527=) c.1669C= (p.Leu557=) n.405C= c.*1584C= (n.*1584C=) c.*1200C= (n.*1200C=) c.1603C= (p.Leu535=) c.1540C= (p.Leu514=) n.574C= c.1609C= (p.Leu537=) | |
| 1 | g.6471010G>T | CA338127553 | PLEKHG5 | c.1372C>A (p.Leu458Ile) c.1546C>A (p.Leu516Ile) c.1483C>A (p.Leu495Ile) n.1848C>A c.1579C>A (p.Leu527Ile) c.1669C>A (p.Leu557Ile) n.405C>A c.*1584C>A (n.*1584C>A) c.*1200C>A (n.*1200C>A) c.1603C>A (p.Leu535Ile) c.1540C>A (p.Leu514Ile) n.574C>A c.1609C>A (p.Leu537Ile) | |
| 1 | g.6471011G>A | CA561549 | PLEKHG5 | c.1371C>T (p.Asp457=) c.1545C>T (p.Asp515=) c.1482C>T (p.Asp494=) n.1847C>T c.1578C>T (p.Asp526=) c.1668C>T (p.Asp556=) n.404C>T c.*1583C>T (n.*1583C>T) c.*1199C>T (n.*1199C>T) c.1602C>T (p.Asp534=) c.1539C>T (p.Asp513=) n.573C>T c.1608C>T (p.Asp536=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6471011G>C | CA338127561 | PLEKHG5 | c.1371C>G (p.Asp457Glu) c.1545C>G (p.Asp515Glu) c.1482C>G (p.Asp494Glu) n.1847C>G c.1578C>G (p.Asp526Glu) c.1668C>G (p.Asp556Glu) n.404C>G c.*1583C>G (n.*1583C>G) c.*1199C>G (n.*1199C>G) c.1602C>G (p.Asp534Glu) c.1539C>G (p.Asp513Glu) n.573C>G c.1608C>G (p.Asp536Glu) | |
| 1 | g.6471011G= | CA1151526467 | PLEKHG5 | c.1371C= (p.Asp457=) c.1545C= (p.Asp515=) c.1482C= (p.Asp494=) n.1847C= c.1578C= (p.Asp526=) c.1668C= (p.Asp556=) n.404C= c.*1583C= (n.*1583C=) c.*1199C= (n.*1199C=) c.1602C= (p.Asp534=) c.1539C= (p.Asp513=) n.573C= c.1608C= (p.Asp536=) | |
| 1 | g.6471011G>T | CA338127559 | PLEKHG5 | c.1371C>A (p.Asp457Glu) c.1545C>A (p.Asp515Glu) c.1482C>A (p.Asp494Glu) n.1847C>A c.1578C>A (p.Asp526Glu) c.1668C>A (p.Asp556Glu) n.404C>A c.*1583C>A (n.*1583C>A) c.*1199C>A (n.*1199C>A) c.1602C>A (p.Asp534Glu) c.1539C>A (p.Asp513Glu) n.573C>A c.1608C>A (p.Asp536Glu) | |
| 1 | g.6471012T>A | CA338127580 | PLEKHG5 | c.1370A>T (p.Asp457Val) c.1544A>T (p.Asp515Val) c.1481A>T (p.Asp494Val) n.1846A>T c.1577A>T (p.Asp526Val) c.1667A>T (p.Asp556Val) n.403A>T c.*1582A>T (n.*1582A>T) c.*1198A>T (n.*1198A>T) c.1601A>T (p.Asp534Val) c.1538A>T (p.Asp513Val) n.572A>T c.1607A>T (p.Asp536Val) | |
| 1 | g.6471012T>C | CA338127581 | PLEKHG5 | c.1370A>G (p.Asp457Gly) c.1544A>G (p.Asp515Gly) c.1481A>G (p.Asp494Gly) n.1846A>G c.1577A>G (p.Asp526Gly) c.1667A>G (p.Asp556Gly) n.403A>G c.*1582A>G (n.*1582A>G) c.*1198A>G (n.*1198A>G) c.1601A>G (p.Asp534Gly) c.1538A>G (p.Asp513Gly) n.572A>G c.1607A>G (p.Asp536Gly) | |
| 1 | g.6471012T>G | CA338127585 | PLEKHG5 | c.1370A>C (p.Asp457Ala) c.1544A>C (p.Asp515Ala) c.1481A>C (p.Asp494Ala) n.1846A>C c.1577A>C (p.Asp526Ala) c.1667A>C (p.Asp556Ala) n.403A>C c.*1582A>C (n.*1582A>C) c.*1198A>C (n.*1198A>C) c.1601A>C (p.Asp534Ala) c.1538A>C (p.Asp513Ala) n.572A>C c.1607A>C (p.Asp536Ala) | |
| 1 | g.6471013C>A | CA338127597 | PLEKHG5 | c.1369G>T (p.Asp457Tyr) c.1543G>T (p.Asp515Tyr) c.1480G>T (p.Asp494Tyr) n.1845G>T c.1576G>T (p.Asp526Tyr) c.1666G>T (p.Asp556Tyr) n.402G>T c.*1581G>T (n.*1581G>T) c.*1197G>T (n.*1197G>T) c.1600G>T (p.Asp534Tyr) c.1537G>T (p.Asp513Tyr) n.571G>T c.1606G>T (p.Asp536Tyr) | gnomAD v4 |
| 1 | g.6471013C>G | CA338127598 | PLEKHG5 | c.1369G>C (p.Asp457His) c.1543G>C (p.Asp515His) c.1480G>C (p.Asp494His) n.1845G>C c.1576G>C (p.Asp526His) c.1666G>C (p.Asp556His) n.402G>C c.*1581G>C (n.*1581G>C) c.*1197G>C (n.*1197G>C) c.1600G>C (p.Asp534His) c.1537G>C (p.Asp513His) n.571G>C c.1606G>C (p.Asp536His) | gnomAD v4 |
| 1 | g.6471013C>T | CA338127599 | PLEKHG5 | c.1369G>A (p.Asp457Asn) c.1543G>A (p.Asp515Asn) c.1480G>A (p.Asp494Asn) n.1845G>A c.1576G>A (p.Asp526Asn) c.1666G>A (p.Asp556Asn) n.402G>A c.*1581G>A (n.*1581G>A) c.*1197G>A (n.*1197G>A) c.1600G>A (p.Asp534Asn) c.1537G>A (p.Asp513Asn) n.571G>A c.1606G>A (p.Asp536Asn) | gnomAD v4 |
| 1 | g.6471014G>A | CA416022938 | PLEKHG5 | c.1368C>T (p.Asn456=) c.1542C>T (p.Asn514=) c.1479C>T (p.Asn493=) n.1844C>T c.1575C>T (p.Asn525=) c.1665C>T (p.Asn555=) n.401C>T c.*1580C>T (n.*1580C>T) c.*1196C>T (n.*1196C>T) c.1599C>T (p.Asn533=) c.1536C>T (p.Asn512=) n.570C>T c.1605C>T (p.Asn535=) | gnomAD v4 |
| 1 | g.6471014G>C | CA338127600 | PLEKHG5 | c.1368C>G (p.Asn456Lys) c.1542C>G (p.Asn514Lys) c.1479C>G (p.Asn493Lys) n.1844C>G c.1575C>G (p.Asn525Lys) c.1665C>G (p.Asn555Lys) n.401C>G c.*1580C>G (n.*1580C>G) c.*1196C>G (n.*1196C>G) c.1599C>G (p.Asn533Lys) c.1536C>G (p.Asn512Lys) n.570C>G c.1605C>G (p.Asn535Lys) | |
| 1 | g.6471014G>T | CA338127601 | PLEKHG5 | c.1368C>A (p.Asn456Lys) c.1542C>A (p.Asn514Lys) c.1479C>A (p.Asn493Lys) n.1844C>A c.1575C>A (p.Asn525Lys) c.1665C>A (p.Asn555Lys) n.401C>A c.*1580C>A (n.*1580C>A) c.*1196C>A (n.*1196C>A) c.1599C>A (p.Asn533Lys) c.1536C>A (p.Asn512Lys) n.570C>A c.1605C>A (p.Asn535Lys) | gnomAD v4 |
| 1 | g.6471015T>A | CA338127606 | PLEKHG5 | c.1367A>T (p.Asn456Ile) c.1541A>T (p.Asn514Ile) c.1478A>T (p.Asn493Ile) n.1843A>T c.1574A>T (p.Asn525Ile) c.1664A>T (p.Asn555Ile) n.400A>T c.*1579A>T (n.*1579A>T) c.*1195A>T (n.*1195A>T) c.1598A>T (p.Asn533Ile) c.1535A>T (p.Asn512Ile) n.569A>T c.1604A>T (p.Asn535Ile) | gnomAD v4 |
| 1 | g.6471015T>C | CA561550 | PLEKHG5 | c.1367A>G (p.Asn456Ser) c.1541A>G (p.Asn514Ser) c.1478A>G (p.Asn493Ser) n.1843A>G c.1574A>G (p.Asn525Ser) c.1664A>G (p.Asn555Ser) n.400A>G c.*1579A>G (n.*1579A>G) c.*1195A>G (n.*1195A>G) c.1598A>G (p.Asn533Ser) c.1535A>G (p.Asn512Ser) n.569A>G c.1604A>G (p.Asn535Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6471015T>G | CA338127612 | PLEKHG5 | c.1367A>C (p.Asn456Thr) c.1541A>C (p.Asn514Thr) c.1478A>C (p.Asn493Thr) n.1843A>C c.1574A>C (p.Asn525Thr) c.1664A>C (p.Asn555Thr) n.400A>C c.*1579A>C (n.*1579A>C) c.*1195A>C (n.*1195A>C) c.1598A>C (p.Asn533Thr) c.1535A>C (p.Asn512Thr) n.569A>C c.1604A>C (p.Asn535Thr) | |
| 1 | g.6471015T= | CA1151526477 | PLEKHG5 | c.1367A= (p.Asn456=) c.1541A= (p.Asn514=) c.1478A= (p.Asn493=) n.1843A= c.1574A= (p.Asn525=) c.1664A= (p.Asn555=) n.400A= c.*1579A= (n.*1579A=) c.*1195A= (n.*1195A=) c.1598A= (p.Asn533=) c.1535A= (p.Asn512=) n.569A= c.1604A= (p.Asn535=) | |
| 1 | g.6471016T>A | CA338127616 | PLEKHG5 | c.1366A>T (p.Asn456Tyr) c.1540A>T (p.Asn514Tyr) c.1477A>T (p.Asn493Tyr) n.1842A>T c.1573A>T (p.Asn525Tyr) c.1663A>T (p.Asn555Tyr) n.399A>T c.*1578A>T (n.*1578A>T) c.*1194A>T (n.*1194A>T) c.1597A>T (p.Asn533Tyr) c.1534A>T (p.Asn512Tyr) n.568A>T c.1603A>T (p.Asn535Tyr) | |
| 1 | g.6471016T>C | CA338127622 | PLEKHG5 | c.1366A>G (p.Asn456Asp) c.1540A>G (p.Asn514Asp) c.1477A>G (p.Asn493Asp) n.1842A>G c.1573A>G (p.Asn525Asp) c.1663A>G (p.Asn555Asp) n.399A>G c.*1578A>G (n.*1578A>G) c.*1194A>G (n.*1194A>G) c.1597A>G (p.Asn533Asp) c.1534A>G (p.Asn512Asp) n.568A>G c.1603A>G (p.Asn535Asp) | gnomAD v4 |
| 1 | g.6471016T>G | CA338127619 | PLEKHG5 | c.1366A>C (p.Asn456His) c.1540A>C (p.Asn514His) c.1477A>C (p.Asn493His) n.1842A>C c.1573A>C (p.Asn525His) c.1663A>C (p.Asn555His) n.399A>C c.*1578A>C (n.*1578A>C) c.*1194A>C (n.*1194A>C) c.1597A>C (p.Asn533His) c.1534A>C (p.Asn512His) n.568A>C c.1603A>C (p.Asn535His) |