Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2164227G>A | CA5818229 | TH | c.*6C>T (n.*6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164227G= | CA1948002417 | TH | c.*6C= (n.*6C=) | |
11 | g.2164227G>T | CA2611968531 | TH | c.*6C>A (n.*6C>A) | gnomAD v4 |
11 | g.2164228T>C | CA1948002420 | TH | c.*5A>G (n.*5A>G) | dbSNP gnomAD v4 |
11 | g.2164228T= | CA1948002419 | TH | c.*5A= (n.*5A=) | |
11 | g.2164229G>A | CA5818230 | TH | c.*4C>T (n.*4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2164229G>C | CA934427728 | TH | c.*4C>G (n.*4C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164229G= | CA1948002421 | TH | c.*4C= (n.*4C=) | |
11 | g.2164229G>T | CA2611968542 | TH | c.*4C>A (n.*4C>A) | gnomAD v4 |
11 | g.2164230C>A | CA1948002424 | TH | c.*3G>T (n.*3G>T) | dbSNP gnomAD v4 |
11 | g.2164230C= | CA1948002423 | TH | c.*3G= (n.*3G=) | |
11 | g.2164230C>T | CA2574757189 | TH | c.*3G>A (n.*3G>A) | gnomAD v4 |
11 | g.2164232C>A | CA2611968554 | TH | c.*1G>T (n.*1G>T) | gnomAD v4 |
11 | g.2164232C>G | CA2611968556 | TH | c.*1G>C (n.*1G>C) | gnomAD v4 |
11 | g.2164232C>T | CA2611968558 | TH | c.*1G>A (n.*1G>A) | gnomAD v4 |
11 | g.2164233C>A | CA379123873 | TH | c.1494G>T (p.Ter498Tyr) c.1212G>T (p.Ter404Tyr) c.1575G>T (p.Ter525Tyr) c.1587G>T (p.Ter529Tyr) c.1506G>T (p.Ter502Tyr) | gnomAD v4 |
11 | g.2164233C>G | CA379123875 | TH | c.1494G>C (p.Ter498Tyr) c.1212G>C (p.Ter404Tyr) c.1575G>C (p.Ter525Tyr) c.1587G>C (p.Ter529Tyr) c.1506G>C (p.Ter502Tyr) | |
11 | g.2164233C>T | CA472032503 | TH | c.1494G>A (p.Ter498=) c.1212G>A (p.Ter404=) c.1575G>A (p.Ter525=) c.1587G>A (p.Ter529=) c.1506G>A (p.Ter502=) | |
11 | g.2164234T>A | CA379123877 | TH | c.1493A>T (p.Ter498Leu) c.1211A>T (p.Ter404Leu) c.1574A>T (p.Ter525Leu) c.1586A>T (p.Ter529Leu) c.1505A>T (p.Ter502Leu) | |
11 | g.2164234T>C | CA379123879 | TH | c.1493A>G (p.Ter498Trp) c.1211A>G (p.Ter404Trp) c.1574A>G (p.Ter525Trp) c.1586A>G (p.Ter529Trp) c.1505A>G (p.Ter502Trp) | dbSNP gnomAD v4 |
11 | g.2164234T>G | CA379123881 | TH | c.1493A>C (p.Ter498Ser) c.1211A>C (p.Ter404Ser) c.1574A>C (p.Ter525Ser) c.1586A>C (p.Ter529Ser) c.1505A>C (p.Ter502Ser) | |
11 | g.2164234T= | CA1948002425 | TH | c.1493A= (p.Ter498=) c.1211A= (p.Ter404=) c.1574A= (p.Ter525=) c.1586A= (p.Ter529=) c.1505A= (p.Ter502=) | |
11 | g.2164235A>C | CA379123885 | TH | c.1492T>G (p.Ter498Glu) c.1210T>G (p.Ter404Glu) c.1573T>G (p.Ter525Glu) c.1585T>G (p.Ter529Glu) c.1504T>G (p.Ter502Glu) | |
11 | g.2164235A>G | CA379123886 | TH | c.1492T>C (p.Ter498Gln) c.1210T>C (p.Ter404Gln) c.1573T>C (p.Ter525Gln) c.1585T>C (p.Ter529Gln) c.1504T>C (p.Ter502Gln) | gnomAD v4 |
11 | g.2164235A>T | CA379123888 | TH | c.1492T>A (p.Ter498Lys) c.1210T>A (p.Ter404Lys) c.1573T>A (p.Ter525Lys) c.1585T>A (p.Ter529Lys) c.1504T>A (p.Ter502Lys) | gnomAD v4 |
11 | g.2164236G>A | CA472032511 | TH | c.1491C>T (p.Gly497=) c.1209C>T (p.Gly403=) c.1572C>T (p.Gly524=) c.1584C>T (p.Gly528=) c.1503C>T (p.Gly501=) | gnomAD v4 |
11 | g.2164236G>C | CA472032513 | TH | c.1491C>G (p.Gly497=) c.1209C>G (p.Gly403=) c.1572C>G (p.Gly524=) c.1584C>G (p.Gly528=) c.1503C>G (p.Gly501=) | dbSNP |
11 | g.2164236G= | CA1948002427 | TH | c.1491C= (p.Gly497=) c.1209C= (p.Gly403=) c.1572C= (p.Gly524=) c.1584C= (p.Gly528=) c.1503C= (p.Gly501=) | |
11 | g.2164236G>T | CA472032515 | TH | c.1491C>A (p.Gly497=) c.1209C>A (p.Gly403=) c.1572C>A (p.Gly524=) c.1584C>A (p.Gly528=) c.1503C>A (p.Gly501=) | gnomAD v4 |
11 | g.2164237C>A | CA5818232 | TH | c.1490G>T (p.Gly497Val) c.1208G>T (p.Gly403Val) c.1571G>T (p.Gly524Val) c.1583G>T (p.Gly528Val) c.1502G>T (p.Gly501Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2164237C= | CA1948002429 | TH | c.1490G= (p.Gly497=) c.1208G= (p.Gly403=) c.1571G= (p.Gly524=) c.1583G= (p.Gly528=) c.1502G= (p.Gly501=) | |
11 | g.2164237C>G | CA379123892 | TH | c.1490G>C (p.Gly497Ala) c.1208G>C (p.Gly403Ala) c.1571G>C (p.Gly524Ala) c.1583G>C (p.Gly528Ala) c.1502G>C (p.Gly501Ala) | |
11 | g.2164237C>T | CA5818231 | TH | c.1490G>A (p.Gly497Asp) c.1208G>A (p.Gly403Asp) c.1571G>A (p.Gly524Asp) c.1583G>A (p.Gly528Asp) c.1502G>A (p.Gly501Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164238C>A | CA379123899 | TH | c.1489G>T (p.Gly497Cys) c.1207G>T (p.Gly403Cys) c.1570G>T (p.Gly524Cys) c.1582G>T (p.Gly528Cys) c.1501G>T (p.Gly501Cys) | gnomAD v4 |
11 | g.2164238C>G | CA379123895 | TH | c.1489G>C (p.Gly497Arg) c.1207G>C (p.Gly403Arg) c.1570G>C (p.Gly524Arg) c.1582G>C (p.Gly528Arg) c.1501G>C (p.Gly501Arg) | |
11 | g.2164238C>T | CA379123897 | TH | c.1489G>A (p.Gly497Ser) c.1207G>A (p.Gly403Ser) c.1570G>A (p.Gly524Ser) c.1582G>A (p.Gly528Ser) c.1501G>A (p.Gly501Ser) | gnomAD v4 |
11 | g.2164239A>C | CA379123903 | TH | c.1488T>G (p.Ile496Met) c.1206T>G (p.Ile402Met) c.1569T>G (p.Ile523Met) c.1581T>G (p.Ile527Met) c.1500T>G (p.Ile500Met) | |
11 | g.2164239A>G | CA472032527 | TH | c.1488T>C (p.Ile496=) c.1206T>C (p.Ile402=) c.1569T>C (p.Ile523=) c.1581T>C (p.Ile527=) c.1500T>C (p.Ile500=) | gnomAD v4 |
11 | g.2164239A>T | CA472032525 | TH | c.1488T>A (p.Ile496=) c.1206T>A (p.Ile402=) c.1569T>A (p.Ile523=) c.1581T>A (p.Ile527=) c.1500T>A (p.Ile500=) | |
11 | g.2164240A= | CA1948002432 | TH | c.1487T= (p.Ile496=) c.1205T= (p.Ile402=) c.1568T= (p.Ile523=) c.1580T= (p.Ile527=) c.1499T= (p.Ile500=) | |
11 | g.2164240A>C | CA379123906 | TH | c.1487T>G (p.Ile496Ser) c.1205T>G (p.Ile402Ser) c.1568T>G (p.Ile523Ser) c.1580T>G (p.Ile527Ser) c.1499T>G (p.Ile500Ser) | |
11 | g.2164240A>G | CA379123909 | TH | c.1487T>C (p.Ile496Thr) c.1205T>C (p.Ile402Thr) c.1568T>C (p.Ile523Thr) c.1580T>C (p.Ile527Thr) c.1499T>C (p.Ile500Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164240A>T | CA379123911 | TH | c.1487T>A (p.Ile496Asn) c.1205T>A (p.Ile402Asn) c.1568T>A (p.Ile523Asn) c.1580T>A (p.Ile527Asn) c.1499T>A (p.Ile500Asn) | |
11 | g.2164241T>A | CA379123913 | TH | c.1486A>T (p.Ile496Phe) c.1204A>T (p.Ile402Phe) c.1567A>T (p.Ile523Phe) c.1579A>T (p.Ile527Phe) c.1498A>T (p.Ile500Phe) | |
11 | g.2164241T>C | CA379123918 | TH | c.1486A>G (p.Ile496Val) c.1204A>G (p.Ile402Val) c.1567A>G (p.Ile523Val) c.1579A>G (p.Ile527Val) c.1498A>G (p.Ile500Val) | gnomAD v4 |
11 | g.2164241T>G | CA379123921 | TH | c.1486A>C (p.Ile496Leu) c.1204A>C (p.Ile402Leu) c.1567A>C (p.Ile523Leu) c.1579A>C (p.Ile527Leu) c.1498A>C (p.Ile500Leu) | |
11 | g.2164242G>A | CA472032538 | TH | c.1485C>T (p.Ala495=) c.1203C>T (p.Ala401=) c.1566C>T (p.Ala522=) c.1578C>T (p.Ala526=) c.1497C>T (p.Ala499=) | gnomAD v4 |
11 | g.2164242G>C | CA472032535 | TH | c.1485C>G (p.Ala495=) c.1203C>G (p.Ala401=) c.1566C>G (p.Ala522=) c.1578C>G (p.Ala526=) c.1497C>G (p.Ala499=) | |
11 | g.2164242G>T | CA472032537 | TH | c.1485C>A (p.Ala495=) c.1203C>A (p.Ala401=) c.1566C>A (p.Ala522=) c.1578C>A (p.Ala526=) c.1497C>A (p.Ala499=) | gnomAD v4 |
11 | g.2164243G>A | CA379123923 | TH | c.1484C>T (p.Ala495Val) c.1202C>T (p.Ala401Val) c.1565C>T (p.Ala522Val) c.1577C>T (p.Ala526Val) c.1496C>T (p.Ala499Val) | dbSNP gnomAD v4 |