Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.115035225T>A | CA374626435 | TNC | c.3855A>T (p.Glu1285Asp) c.4677A>T (p.Glu1559Asp) c.2709A>T (p.Glu903Asp) c.1365A>T (p.Glu455Asp) c.4724A>T c.5766A>T (p.Glu1922Asp) c.5220A>T (p.Glu1740Asp) c.4947A>T (p.Glu1649Asp) n.348A>T c.1453A>T c.5493A>T (p.Glu1831Asp) c.4674A>T (p.Glu1558Asp) c.4128A>T (p.Glu1376Asp) c.6042A>T (p.Glu2014Asp) c.5769A>T (p.Glu1923Asp) c.5223A>T (p.Glu1741Asp) c.4950A>T (p.Glu1650Asp) c.4401A>T (p.Glu1467Asp) c.6315A>T (p.Glu2105Asp) c.6039A>T (p.Glu2013Asp) | |
9 | g.115035225T>C | CA466790010 | TNC | c.3855A>G (p.Glu1285=) c.4677A>G (p.Glu1559=) c.2709A>G (p.Glu903=) c.1365A>G (p.Glu455=) c.4724A>G c.5766A>G (p.Glu1922=) c.5220A>G (p.Glu1740=) c.4947A>G (p.Glu1649=) n.348A>G c.1453A>G c.5493A>G (p.Glu1831=) c.4674A>G (p.Glu1558=) c.4128A>G (p.Glu1376=) c.6042A>G (p.Glu2014=) c.5769A>G (p.Glu1923=) c.5223A>G (p.Glu1741=) c.4950A>G (p.Glu1650=) c.4401A>G (p.Glu1467=) c.6315A>G (p.Glu2105=) c.6039A>G (p.Glu2013=) | gnomAD v4 |
9 | g.115035225T>G | CA374626436 | TNC | c.3855A>C (p.Glu1285Asp) c.4677A>C (p.Glu1559Asp) c.2709A>C (p.Glu903Asp) c.1365A>C (p.Glu455Asp) c.4724A>C c.5766A>C (p.Glu1922Asp) c.5220A>C (p.Glu1740Asp) c.4947A>C (p.Glu1649Asp) n.348A>C c.1453A>C c.5493A>C (p.Glu1831Asp) c.4674A>C (p.Glu1558Asp) c.4128A>C (p.Glu1376Asp) c.6042A>C (p.Glu2014Asp) c.5769A>C (p.Glu1923Asp) c.5223A>C (p.Glu1741Asp) c.4950A>C (p.Glu1650Asp) c.4401A>C (p.Glu1467Asp) c.6315A>C (p.Glu2105Asp) c.6039A>C (p.Glu2013Asp) | |
9 | g.115035226T>A | CA374626437 | TNC | c.3854A>T (p.Glu1285Val) c.4676A>T (p.Glu1559Val) c.2708A>T (p.Glu903Val) c.1364A>T (p.Glu455Val) c.4723A>T c.5765A>T (p.Glu1922Val) c.5219A>T (p.Glu1740Val) c.4946A>T (p.Glu1649Val) n.347A>T c.1452A>T c.5492A>T (p.Glu1831Val) c.4673A>T (p.Glu1558Val) c.4127A>T (p.Glu1376Val) c.6041A>T (p.Glu2014Val) c.5768A>T (p.Glu1923Val) c.5222A>T (p.Glu1741Val) c.4949A>T (p.Glu1650Val) c.4400A>T (p.Glu1467Val) c.6314A>T (p.Glu2105Val) c.6038A>T (p.Glu2013Val) | |
9 | g.115035226T>C | CA374626438 | TNC | c.3854A>G (p.Glu1285Gly) c.4676A>G (p.Glu1559Gly) c.2708A>G (p.Glu903Gly) c.1364A>G (p.Glu455Gly) c.4723A>G c.5765A>G (p.Glu1922Gly) c.5219A>G (p.Glu1740Gly) c.4946A>G (p.Glu1649Gly) n.347A>G c.1452A>G c.5492A>G (p.Glu1831Gly) c.4673A>G (p.Glu1558Gly) c.4127A>G (p.Glu1376Gly) c.6041A>G (p.Glu2014Gly) c.5768A>G (p.Glu1923Gly) c.5222A>G (p.Glu1741Gly) c.4949A>G (p.Glu1650Gly) c.4400A>G (p.Glu1467Gly) c.6314A>G (p.Glu2105Gly) c.6038A>G (p.Glu2013Gly) | |
9 | g.115035226T>G | CA374626439 | TNC | c.3854A>C (p.Glu1285Ala) c.4676A>C (p.Glu1559Ala) c.2708A>C (p.Glu903Ala) c.1364A>C (p.Glu455Ala) c.4723A>C c.5765A>C (p.Glu1922Ala) c.5219A>C (p.Glu1740Ala) c.4946A>C (p.Glu1649Ala) n.347A>C c.1452A>C c.5492A>C (p.Glu1831Ala) c.4673A>C (p.Glu1558Ala) c.4127A>C (p.Glu1376Ala) c.6041A>C (p.Glu2014Ala) c.5768A>C (p.Glu1923Ala) c.5222A>C (p.Glu1741Ala) c.4949A>C (p.Glu1650Ala) c.4400A>C (p.Glu1467Ala) c.6314A>C (p.Glu2105Ala) c.6038A>C (p.Glu2013Ala) | |
9 | g.115035227C>A | CA374626442 | TNC | c.3853G>T (p.Glu1285Ter) c.4675G>T (p.Glu1559Ter) c.2707G>T (p.Glu903Ter) c.1363G>T (p.Glu455Ter) c.4722G>T c.5764G>T (p.Glu1922Ter) c.5218G>T (p.Glu1740Ter) c.4945G>T (p.Glu1649Ter) n.346G>T c.1451G>T c.5491G>T (p.Glu1831Ter) c.4672G>T (p.Glu1558Ter) c.4126G>T (p.Glu1376Ter) c.6040G>T (p.Glu2014Ter) c.5767G>T (p.Glu1923Ter) c.5221G>T (p.Glu1741Ter) c.4948G>T (p.Glu1650Ter) c.4399G>T (p.Glu1467Ter) c.6313G>T (p.Glu2105Ter) c.6037G>T (p.Glu2013Ter) | |
9 | g.115035227C>G | CA374626441 | TNC | c.3853G>C (p.Glu1285Gln) c.4675G>C (p.Glu1559Gln) c.2707G>C (p.Glu903Gln) c.1363G>C (p.Glu455Gln) c.4722G>C c.5764G>C (p.Glu1922Gln) c.5218G>C (p.Glu1740Gln) c.4945G>C (p.Glu1649Gln) n.346G>C c.1451G>C c.5491G>C (p.Glu1831Gln) c.4672G>C (p.Glu1558Gln) c.4126G>C (p.Glu1376Gln) c.6040G>C (p.Glu2014Gln) c.5767G>C (p.Glu1923Gln) c.5221G>C (p.Glu1741Gln) c.4948G>C (p.Glu1650Gln) c.4399G>C (p.Glu1467Gln) c.6313G>C (p.Glu2105Gln) c.6037G>C (p.Glu2013Gln) | |
9 | g.115035227C>T | CA374626440 | TNC | c.3853G>A (p.Glu1285Lys) c.4675G>A (p.Glu1559Lys) c.2707G>A (p.Glu903Lys) c.1363G>A (p.Glu455Lys) c.4722G>A c.5764G>A (p.Glu1922Lys) c.5218G>A (p.Glu1740Lys) c.4945G>A (p.Glu1649Lys) n.346G>A c.1451G>A c.5491G>A (p.Glu1831Lys) c.4672G>A (p.Glu1558Lys) c.4126G>A (p.Glu1376Lys) c.6040G>A (p.Glu2014Lys) c.5767G>A (p.Glu1923Lys) c.5221G>A (p.Glu1741Lys) c.4948G>A (p.Glu1650Lys) c.4399G>A (p.Glu1467Lys) c.6313G>A (p.Glu2105Lys) c.6037G>A (p.Glu2013Lys) | |
9 | g.115035228A>C | CA374626443 | TNC | c.3852T>G (p.Tyr1284Ter) c.4674T>G (p.Tyr1558Ter) c.2706T>G (p.Tyr902Ter) c.1362T>G (p.Tyr454Ter) c.4721T>G c.5763T>G (p.Tyr1921Ter) c.5217T>G (p.Tyr1739Ter) c.4944T>G (p.Tyr1648Ter) n.345T>G c.1450T>G c.5490T>G (p.Tyr1830Ter) c.4671T>G (p.Tyr1557Ter) c.4125T>G (p.Tyr1375Ter) c.6039T>G (p.Tyr2013Ter) c.5766T>G (p.Tyr1922Ter) c.5220T>G (p.Tyr1740Ter) c.4947T>G (p.Tyr1649Ter) c.4398T>G (p.Tyr1466Ter) c.6312T>G (p.Tyr2104Ter) c.6036T>G (p.Tyr2012Ter) | |
9 | g.115035228A>G | CA466790011 | TNC | c.3852T>C (p.Tyr1284=) c.4674T>C (p.Tyr1558=) c.2706T>C (p.Tyr902=) c.1362T>C (p.Tyr454=) c.4721T>C c.5763T>C (p.Tyr1921=) c.5217T>C (p.Tyr1739=) c.4944T>C (p.Tyr1648=) n.345T>C c.1450T>C c.5490T>C (p.Tyr1830=) c.4671T>C (p.Tyr1557=) c.4125T>C (p.Tyr1375=) c.6039T>C (p.Tyr2013=) c.5766T>C (p.Tyr1922=) c.5220T>C (p.Tyr1740=) c.4947T>C (p.Tyr1649=) c.4398T>C (p.Tyr1466=) c.6312T>C (p.Tyr2104=) c.6036T>C (p.Tyr2012=) | |
9 | g.115035228A>T | CA374626444 | TNC | c.3852T>A (p.Tyr1284Ter) c.4674T>A (p.Tyr1558Ter) c.2706T>A (p.Tyr902Ter) c.1362T>A (p.Tyr454Ter) c.4721T>A c.5763T>A (p.Tyr1921Ter) c.5217T>A (p.Tyr1739Ter) c.4944T>A (p.Tyr1648Ter) n.345T>A c.1450T>A c.5490T>A (p.Tyr1830Ter) c.4671T>A (p.Tyr1557Ter) c.4125T>A (p.Tyr1375Ter) c.6039T>A (p.Tyr2013Ter) c.5766T>A (p.Tyr1922Ter) c.5220T>A (p.Tyr1740Ter) c.4947T>A (p.Tyr1649Ter) c.4398T>A (p.Tyr1466Ter) c.6312T>A (p.Tyr2104Ter) c.6036T>A (p.Tyr2012Ter) | |
9 | g.115035229T>A | CA374626445 | TNC | c.3851A>T (p.Tyr1284Phe) c.4673A>T (p.Tyr1558Phe) c.2705A>T (p.Tyr902Phe) c.1361A>T (p.Tyr454Phe) c.4720A>T c.5762A>T (p.Tyr1921Phe) c.5216A>T (p.Tyr1739Phe) c.4943A>T (p.Tyr1648Phe) n.344A>T c.1449A>T c.5489A>T (p.Tyr1830Phe) c.4670A>T (p.Tyr1557Phe) c.4124A>T (p.Tyr1375Phe) c.6038A>T (p.Tyr2013Phe) c.5765A>T (p.Tyr1922Phe) c.5219A>T (p.Tyr1740Phe) c.4946A>T (p.Tyr1649Phe) c.4397A>T (p.Tyr1466Phe) c.6311A>T (p.Tyr2104Phe) c.6035A>T (p.Tyr2012Phe) | |
9 | g.115035229T>C | CA5207541 | TNC | c.3851A>G (p.Tyr1284Cys) c.4673A>G (p.Tyr1558Cys) c.2705A>G (p.Tyr902Cys) c.1361A>G (p.Tyr454Cys) c.4720A>G c.5762A>G (p.Tyr1921Cys) c.5216A>G (p.Tyr1739Cys) c.4943A>G (p.Tyr1648Cys) n.344A>G c.1449A>G c.5489A>G (p.Tyr1830Cys) c.4670A>G (p.Tyr1557Cys) c.4124A>G (p.Tyr1375Cys) c.6038A>G (p.Tyr2013Cys) c.5765A>G (p.Tyr1922Cys) c.5219A>G (p.Tyr1740Cys) c.4946A>G (p.Tyr1649Cys) c.4397A>G (p.Tyr1466Cys) c.6311A>G (p.Tyr2104Cys) c.6035A>G (p.Tyr2012Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035229T>G | CA374626446 | TNC | c.3851A>C (p.Tyr1284Ser) c.4673A>C (p.Tyr1558Ser) c.2705A>C (p.Tyr902Ser) c.1361A>C (p.Tyr454Ser) c.4720A>C c.5762A>C (p.Tyr1921Ser) c.5216A>C (p.Tyr1739Ser) c.4943A>C (p.Tyr1648Ser) n.344A>C c.1449A>C c.5489A>C (p.Tyr1830Ser) c.4670A>C (p.Tyr1557Ser) c.4124A>C (p.Tyr1375Ser) c.6038A>C (p.Tyr2013Ser) c.5765A>C (p.Tyr1922Ser) c.5219A>C (p.Tyr1740Ser) c.4946A>C (p.Tyr1649Ser) c.4397A>C (p.Tyr1466Ser) c.6311A>C (p.Tyr2104Ser) c.6035A>C (p.Tyr2012Ser) | |
9 | g.115035229T= | CA1874113734 | TNC | c.3851A= (p.Tyr1284=) c.4673A= (p.Tyr1558=) c.2705A= (p.Tyr902=) c.1361A= (p.Tyr454=) c.4720A= c.5762A= (p.Tyr1921=) c.5216A= (p.Tyr1739=) c.4943A= (p.Tyr1648=) n.344A= c.1449A= c.5489A= (p.Tyr1830=) c.4670A= (p.Tyr1557=) c.4124A= (p.Tyr1375=) c.6038A= (p.Tyr2013=) c.5765A= (p.Tyr1922=) c.5219A= (p.Tyr1740=) c.4946A= (p.Tyr1649=) c.4397A= (p.Tyr1466=) c.6311A= (p.Tyr2104=) c.6035A= (p.Tyr2012=) | |
9 | g.115035230A>C | CA374626447 | TNC | c.3850T>G (p.Tyr1284Asp) c.4672T>G (p.Tyr1558Asp) c.2704T>G (p.Tyr902Asp) c.1360T>G (p.Tyr454Asp) c.4719T>G c.5761T>G (p.Tyr1921Asp) c.5215T>G (p.Tyr1739Asp) c.4942T>G (p.Tyr1648Asp) n.343T>G c.1448T>G c.5488T>G (p.Tyr1830Asp) c.4669T>G (p.Tyr1557Asp) c.4123T>G (p.Tyr1375Asp) c.6037T>G (p.Tyr2013Asp) c.5764T>G (p.Tyr1922Asp) c.5218T>G (p.Tyr1740Asp) c.4945T>G (p.Tyr1649Asp) c.4396T>G (p.Tyr1466Asp) c.6310T>G (p.Tyr2104Asp) c.6034T>G (p.Tyr2012Asp) | |
9 | g.115035230A>G | CA374626448 | TNC | c.3850T>C (p.Tyr1284His) c.4672T>C (p.Tyr1558His) c.2704T>C (p.Tyr902His) c.1360T>C (p.Tyr454His) c.4719T>C c.5761T>C (p.Tyr1921His) c.5215T>C (p.Tyr1739His) c.4942T>C (p.Tyr1648His) n.343T>C c.1448T>C c.5488T>C (p.Tyr1830His) c.4669T>C (p.Tyr1557His) c.4123T>C (p.Tyr1375His) c.6037T>C (p.Tyr2013His) c.5764T>C (p.Tyr1922His) c.5218T>C (p.Tyr1740His) c.4945T>C (p.Tyr1649His) c.4396T>C (p.Tyr1466His) c.6310T>C (p.Tyr2104His) c.6034T>C (p.Tyr2012His) | |
9 | g.115035230A>T | CA374626449 | TNC | c.3850T>A (p.Tyr1284Asn) c.4672T>A (p.Tyr1558Asn) c.2704T>A (p.Tyr902Asn) c.1360T>A (p.Tyr454Asn) c.4719T>A c.5761T>A (p.Tyr1921Asn) c.5215T>A (p.Tyr1739Asn) c.4942T>A (p.Tyr1648Asn) n.343T>A c.1448T>A c.5488T>A (p.Tyr1830Asn) c.4669T>A (p.Tyr1557Asn) c.4123T>A (p.Tyr1375Asn) c.6037T>A (p.Tyr2013Asn) c.5764T>A (p.Tyr1922Asn) c.5218T>A (p.Tyr1740Asn) c.4945T>A (p.Tyr1649Asn) c.4396T>A (p.Tyr1466Asn) c.6310T>A (p.Tyr2104Asn) c.6034T>A (p.Tyr2012Asn) | gnomAD v4 |
9 | g.115035231G>A | CA466790012 | TNC | c.3849C>T (p.Val1283=) c.4671C>T (p.Val1557=) c.2703C>T (p.Val901=) c.1359C>T (p.Val453=) c.4718C>T c.5760C>T (p.Val1920=) c.5214C>T (p.Val1738=) c.4941C>T (p.Val1647=) n.342C>T c.1447C>T c.5487C>T (p.Val1829=) c.4668C>T (p.Val1556=) c.4122C>T (p.Val1374=) c.6036C>T (p.Val2012=) c.5763C>T (p.Val1921=) c.5217C>T (p.Val1739=) c.4944C>T (p.Val1648=) c.4395C>T (p.Val1465=) c.6309C>T (p.Val2103=) c.6033C>T (p.Val2011=) | |
9 | g.115035231G>C | CA5207542 | TNC | c.3849C>G (p.Val1283=) c.4671C>G (p.Val1557=) c.2703C>G (p.Val901=) c.1359C>G (p.Val453=) c.4718C>G c.5760C>G (p.Val1920=) c.5214C>G (p.Val1738=) c.4941C>G (p.Val1647=) n.342C>G c.1447C>G c.5487C>G (p.Val1829=) c.4668C>G (p.Val1556=) c.4122C>G (p.Val1374=) c.6036C>G (p.Val2012=) c.5763C>G (p.Val1921=) c.5217C>G (p.Val1739=) c.4944C>G (p.Val1648=) c.4395C>G (p.Val1465=) c.6309C>G (p.Val2103=) c.6033C>G (p.Val2011=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035231G= | CA1874113735 | TNC | c.3849C= (p.Val1283=) c.4671C= (p.Val1557=) c.2703C= (p.Val901=) c.1359C= (p.Val453=) c.4718C= c.5760C= (p.Val1920=) c.5214C= (p.Val1738=) c.4941C= (p.Val1647=) n.342C= c.1447C= c.5487C= (p.Val1829=) c.4668C= (p.Val1556=) c.4122C= (p.Val1374=) c.6036C= (p.Val2012=) c.5763C= (p.Val1921=) c.5217C= (p.Val1739=) c.4944C= (p.Val1648=) c.4395C= (p.Val1465=) c.6309C= (p.Val2103=) c.6033C= (p.Val2011=) | |
9 | g.115035231G>T | CA466790013 | TNC | c.3849C>A (p.Val1283=) c.4671C>A (p.Val1557=) c.2703C>A (p.Val901=) c.1359C>A (p.Val453=) c.4718C>A c.5760C>A (p.Val1920=) c.5214C>A (p.Val1738=) c.4941C>A (p.Val1647=) n.342C>A c.1447C>A c.5487C>A (p.Val1829=) c.4668C>A (p.Val1556=) c.4122C>A (p.Val1374=) c.6036C>A (p.Val2012=) c.5763C>A (p.Val1921=) c.5217C>A (p.Val1739=) c.4944C>A (p.Val1648=) c.4395C>A (p.Val1465=) c.6309C>A (p.Val2103=) c.6033C>A (p.Val2011=) | |
9 | g.115035232A>C | CA374626450 | TNC | c.3848T>G (p.Val1283Gly) c.4670T>G (p.Val1557Gly) c.2702T>G (p.Val901Gly) c.1358T>G (p.Val453Gly) c.4717T>G c.5759T>G (p.Val1920Gly) c.5213T>G (p.Val1738Gly) c.4940T>G (p.Val1647Gly) n.341T>G c.1446T>G c.5486T>G (p.Val1829Gly) c.4667T>G (p.Val1556Gly) c.4121T>G (p.Val1374Gly) c.6035T>G (p.Val2012Gly) c.5762T>G (p.Val1921Gly) c.5216T>G (p.Val1739Gly) c.4943T>G (p.Val1648Gly) c.4394T>G (p.Val1465Gly) c.6308T>G (p.Val2103Gly) c.6032T>G (p.Val2011Gly) | |
9 | g.115035232A>G | CA374626451 | TNC | c.3848T>C (p.Val1283Ala) c.4670T>C (p.Val1557Ala) c.2702T>C (p.Val901Ala) c.1358T>C (p.Val453Ala) c.4717T>C c.5759T>C (p.Val1920Ala) c.5213T>C (p.Val1738Ala) c.4940T>C (p.Val1647Ala) n.341T>C c.1446T>C c.5486T>C (p.Val1829Ala) c.4667T>C (p.Val1556Ala) c.4121T>C (p.Val1374Ala) c.6035T>C (p.Val2012Ala) c.5762T>C (p.Val1921Ala) c.5216T>C (p.Val1739Ala) c.4943T>C (p.Val1648Ala) c.4394T>C (p.Val1465Ala) c.6308T>C (p.Val2103Ala) c.6032T>C (p.Val2011Ala) | |
9 | g.115035232A>T | CA374626452 | TNC | c.3848T>A (p.Val1283Asp) c.4670T>A (p.Val1557Asp) c.2702T>A (p.Val901Asp) c.1358T>A (p.Val453Asp) c.4717T>A c.5759T>A (p.Val1920Asp) c.5213T>A (p.Val1738Asp) c.4940T>A (p.Val1647Asp) n.341T>A c.1446T>A c.5486T>A (p.Val1829Asp) c.4667T>A (p.Val1556Asp) c.4121T>A (p.Val1374Asp) c.6035T>A (p.Val2012Asp) c.5762T>A (p.Val1921Asp) c.5216T>A (p.Val1739Asp) c.4943T>A (p.Val1648Asp) c.4394T>A (p.Val1465Asp) c.6308T>A (p.Val2103Asp) c.6032T>A (p.Val2011Asp) | |
9 | g.115035233C>A | CA5207543 | TNC | c.3847G>T (p.Val1283Phe) c.4669G>T (p.Val1557Phe) c.2701G>T (p.Val901Phe) c.1357G>T (p.Val453Phe) c.4716G>T c.5758G>T (p.Val1920Phe) c.5212G>T (p.Val1738Phe) c.4939G>T (p.Val1647Phe) n.340G>T c.1445G>T c.5485G>T (p.Val1829Phe) c.4666G>T (p.Val1556Phe) c.4120G>T (p.Val1374Phe) c.6034G>T (p.Val2012Phe) c.5761G>T (p.Val1921Phe) c.5215G>T (p.Val1739Phe) c.4942G>T (p.Val1648Phe) c.4393G>T (p.Val1465Phe) c.6307G>T (p.Val2103Phe) c.6031G>T (p.Val2011Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035233C= | CA1874113736 | TNC | c.3847G= (p.Val1283=) c.4669G= (p.Val1557=) c.2701G= (p.Val901=) c.1357G= (p.Val453=) c.4716G= c.5758G= (p.Val1920=) c.5212G= (p.Val1738=) c.4939G= (p.Val1647=) n.340G= c.1445G= c.5485G= (p.Val1829=) c.4666G= (p.Val1556=) c.4120G= (p.Val1374=) c.6034G= (p.Val2012=) c.5761G= (p.Val1921=) c.5215G= (p.Val1739=) c.4942G= (p.Val1648=) c.4393G= (p.Val1465=) c.6307G= (p.Val2103=) c.6031G= (p.Val2011=) | |
9 | g.115035233C>G | CA374626454 | TNC | c.3847G>C (p.Val1283Leu) c.4669G>C (p.Val1557Leu) c.2701G>C (p.Val901Leu) c.1357G>C (p.Val453Leu) c.4716G>C c.5758G>C (p.Val1920Leu) c.5212G>C (p.Val1738Leu) c.4939G>C (p.Val1647Leu) n.340G>C c.1445G>C c.5485G>C (p.Val1829Leu) c.4666G>C (p.Val1556Leu) c.4120G>C (p.Val1374Leu) c.6034G>C (p.Val2012Leu) c.5761G>C (p.Val1921Leu) c.5215G>C (p.Val1739Leu) c.4942G>C (p.Val1648Leu) c.4393G>C (p.Val1465Leu) c.6307G>C (p.Val2103Leu) c.6031G>C (p.Val2011Leu) | dbSNP gnomAD v4 |
9 | g.115035233C>T | CA374626453 | TNC | c.3847G>A (p.Val1283Ile) c.4669G>A (p.Val1557Ile) c.2701G>A (p.Val901Ile) c.1357G>A (p.Val453Ile) c.4716G>A c.5758G>A (p.Val1920Ile) c.5212G>A (p.Val1738Ile) c.4939G>A (p.Val1647Ile) n.340G>A c.1445G>A c.5485G>A (p.Val1829Ile) c.4666G>A (p.Val1556Ile) c.4120G>A (p.Val1374Ile) c.6034G>A (p.Val2012Ile) c.5761G>A (p.Val1921Ile) c.5215G>A (p.Val1739Ile) c.4942G>A (p.Val1648Ile) c.4393G>A (p.Val1465Ile) c.6307G>A (p.Val2103Ile) c.6031G>A (p.Val2011Ile) | gnomAD v4 |
9 | g.115035234C>A | CA466790014 | TNC | c.3846G>T (p.Leu1282=) c.4668G>T (p.Leu1556=) c.2700G>T (p.Leu900=) c.1356G>T (p.Leu452=) c.4715G>T c.5757G>T (p.Leu1919=) c.5211G>T (p.Leu1737=) c.4938G>T (p.Leu1646=) n.339G>T c.1444G>T c.5484G>T (p.Leu1828=) c.4665G>T (p.Leu1555=) c.4119G>T (p.Leu1373=) c.6033G>T (p.Leu2011=) c.5760G>T (p.Leu1920=) c.5214G>T (p.Leu1738=) c.4941G>T (p.Leu1647=) c.4392G>T (p.Leu1464=) c.6306G>T (p.Leu2102=) c.6030G>T (p.Leu2010=) | dbSNP gnomAD v4 |
9 | g.115035234C= | CA1874113737 | TNC | c.3846G= (p.Leu1282=) c.4668G= (p.Leu1556=) c.2700G= (p.Leu900=) c.1356G= (p.Leu452=) c.4715G= c.5757G= (p.Leu1919=) c.5211G= (p.Leu1737=) c.4938G= (p.Leu1646=) n.339G= c.1444G= c.5484G= (p.Leu1828=) c.4665G= (p.Leu1555=) c.4119G= (p.Leu1373=) c.6033G= (p.Leu2011=) c.5760G= (p.Leu1920=) c.5214G= (p.Leu1738=) c.4941G= (p.Leu1647=) c.4392G= (p.Leu1464=) c.6306G= (p.Leu2102=) c.6030G= (p.Leu2010=) | |
9 | g.115035234C>G | CA466790015 | TNC | c.3846G>C (p.Leu1282=) c.4668G>C (p.Leu1556=) c.2700G>C (p.Leu900=) c.1356G>C (p.Leu452=) c.4715G>C c.5757G>C (p.Leu1919=) c.5211G>C (p.Leu1737=) c.4938G>C (p.Leu1646=) n.339G>C c.1444G>C c.5484G>C (p.Leu1828=) c.4665G>C (p.Leu1555=) c.4119G>C (p.Leu1373=) c.6033G>C (p.Leu2011=) c.5760G>C (p.Leu1920=) c.5214G>C (p.Leu1738=) c.4941G>C (p.Leu1647=) c.4392G>C (p.Leu1464=) c.6306G>C (p.Leu2102=) c.6030G>C (p.Leu2010=) | |
9 | g.115035234C>T | CA466790016 | TNC | c.3846G>A (p.Leu1282=) c.4668G>A (p.Leu1556=) c.2700G>A (p.Leu900=) c.1356G>A (p.Leu452=) c.4715G>A c.5757G>A (p.Leu1919=) c.5211G>A (p.Leu1737=) c.4938G>A (p.Leu1646=) n.339G>A c.1444G>A c.5484G>A (p.Leu1828=) c.4665G>A (p.Leu1555=) c.4119G>A (p.Leu1373=) c.6033G>A (p.Leu2011=) c.5760G>A (p.Leu1920=) c.5214G>A (p.Leu1738=) c.4941G>A (p.Leu1647=) c.4392G>A (p.Leu1464=) c.6306G>A (p.Leu2102=) c.6030G>A (p.Leu2010=) | dbSNP |
9 | g.115035235A>C | CA374626455 | TNC | c.3845T>G (p.Leu1282Arg) c.4667T>G (p.Leu1556Arg) c.2699T>G (p.Leu900Arg) c.1355T>G (p.Leu452Arg) c.4714T>G c.5756T>G (p.Leu1919Arg) c.5210T>G (p.Leu1737Arg) c.4937T>G (p.Leu1646Arg) n.338T>G c.1443T>G c.5483T>G (p.Leu1828Arg) c.4664T>G (p.Leu1555Arg) c.4118T>G (p.Leu1373Arg) c.6032T>G (p.Leu2011Arg) c.5759T>G (p.Leu1920Arg) c.5213T>G (p.Leu1738Arg) c.4940T>G (p.Leu1647Arg) c.4391T>G (p.Leu1464Arg) c.6305T>G (p.Leu2102Arg) c.6029T>G (p.Leu2010Arg) | |
9 | g.115035235A>G | CA374626456 | TNC | c.3845T>C (p.Leu1282Pro) c.4667T>C (p.Leu1556Pro) c.2699T>C (p.Leu900Pro) c.1355T>C (p.Leu452Pro) c.4714T>C c.5756T>C (p.Leu1919Pro) c.5210T>C (p.Leu1737Pro) c.4937T>C (p.Leu1646Pro) n.338T>C c.1443T>C c.5483T>C (p.Leu1828Pro) c.4664T>C (p.Leu1555Pro) c.4118T>C (p.Leu1373Pro) c.6032T>C (p.Leu2011Pro) c.5759T>C (p.Leu1920Pro) c.5213T>C (p.Leu1738Pro) c.4940T>C (p.Leu1647Pro) c.4391T>C (p.Leu1464Pro) c.6305T>C (p.Leu2102Pro) c.6029T>C (p.Leu2010Pro) | |
9 | g.115035235A>T | CA374626457 | TNC | c.3845T>A (p.Leu1282Gln) c.4667T>A (p.Leu1556Gln) c.2699T>A (p.Leu900Gln) c.1355T>A (p.Leu452Gln) c.4714T>A c.5756T>A (p.Leu1919Gln) c.5210T>A (p.Leu1737Gln) c.4937T>A (p.Leu1646Gln) n.338T>A c.1443T>A c.5483T>A (p.Leu1828Gln) c.4664T>A (p.Leu1555Gln) c.4118T>A (p.Leu1373Gln) c.6032T>A (p.Leu2011Gln) c.5759T>A (p.Leu1920Gln) c.5213T>A (p.Leu1738Gln) c.4940T>A (p.Leu1647Gln) c.4391T>A (p.Leu1464Gln) c.6305T>A (p.Leu2102Gln) c.6029T>A (p.Leu2010Gln) | |
9 | g.115035236G>A | CA466790017 | TNC | c.3844C>T (p.Leu1282=) c.4666C>T (p.Leu1556=) c.2698C>T (p.Leu900=) c.1354C>T (p.Leu452=) c.4713C>T c.5755C>T (p.Leu1919=) c.5209C>T (p.Leu1737=) c.4936C>T (p.Leu1646=) n.337C>T c.1442C>T c.5482C>T (p.Leu1828=) c.4663C>T (p.Leu1555=) c.4117C>T (p.Leu1373=) c.6031C>T (p.Leu2011=) c.5758C>T (p.Leu1920=) c.5212C>T (p.Leu1738=) c.4939C>T (p.Leu1647=) c.4390C>T (p.Leu1464=) c.6304C>T (p.Leu2102=) c.6028C>T (p.Leu2010=) | |
9 | g.115035236G>C | CA374626458 | TNC | c.3844C>G (p.Leu1282Val) c.4666C>G (p.Leu1556Val) c.2698C>G (p.Leu900Val) c.1354C>G (p.Leu452Val) c.4713C>G c.5755C>G (p.Leu1919Val) c.5209C>G (p.Leu1737Val) c.4936C>G (p.Leu1646Val) n.337C>G c.1442C>G c.5482C>G (p.Leu1828Val) c.4663C>G (p.Leu1555Val) c.4117C>G (p.Leu1373Val) c.6031C>G (p.Leu2011Val) c.5758C>G (p.Leu1920Val) c.5212C>G (p.Leu1738Val) c.4939C>G (p.Leu1647Val) c.4390C>G (p.Leu1464Val) c.6304C>G (p.Leu2102Val) c.6028C>G (p.Leu2010Val) | |
9 | g.115035236G>T | CA374626459 | TNC | c.3844C>A (p.Leu1282Met) c.4666C>A (p.Leu1556Met) c.2698C>A (p.Leu900Met) c.1354C>A (p.Leu452Met) c.4713C>A c.5755C>A (p.Leu1919Met) c.5209C>A (p.Leu1737Met) c.4936C>A (p.Leu1646Met) n.337C>A c.1442C>A c.5482C>A (p.Leu1828Met) c.4663C>A (p.Leu1555Met) c.4117C>A (p.Leu1373Met) c.6031C>A (p.Leu2011Met) c.5758C>A (p.Leu1920Met) c.5212C>A (p.Leu1738Met) c.4939C>A (p.Leu1647Met) c.4390C>A (p.Leu1464Met) c.6304C>A (p.Leu2102Met) c.6028C>A (p.Leu2010Met) | |
9 | g.115035237C>A | CA466790020 | TNC | c.3843G>T (p.Leu1281=) c.4665G>T (p.Leu1555=) c.2697G>T (p.Leu899=) c.1353G>T (p.Leu451=) c.4712G>T c.5754G>T (p.Leu1918=) c.5208G>T (p.Leu1736=) c.4935G>T (p.Leu1645=) n.336G>T c.1441G>T c.5481G>T (p.Leu1827=) c.4662G>T (p.Leu1554=) c.4116G>T (p.Leu1372=) c.6030G>T (p.Leu2010=) c.5757G>T (p.Leu1919=) c.5211G>T (p.Leu1737=) c.4938G>T (p.Leu1646=) c.4389G>T (p.Leu1463=) c.6303G>T (p.Leu2101=) c.6027G>T (p.Leu2009=) | |
9 | g.115035237C>G | CA466790018 | TNC | c.3843G>C (p.Leu1281=) c.4665G>C (p.Leu1555=) c.2697G>C (p.Leu899=) c.1353G>C (p.Leu451=) c.4712G>C c.5754G>C (p.Leu1918=) c.5208G>C (p.Leu1736=) c.4935G>C (p.Leu1645=) n.336G>C c.1441G>C c.5481G>C (p.Leu1827=) c.4662G>C (p.Leu1554=) c.4116G>C (p.Leu1372=) c.6030G>C (p.Leu2010=) c.5757G>C (p.Leu1919=) c.5211G>C (p.Leu1737=) c.4938G>C (p.Leu1646=) c.4389G>C (p.Leu1463=) c.6303G>C (p.Leu2101=) c.6027G>C (p.Leu2009=) | |
9 | g.115035237C>T | CA466790019 | TNC | c.3843G>A (p.Leu1281=) c.4665G>A (p.Leu1555=) c.2697G>A (p.Leu899=) c.1353G>A (p.Leu451=) c.4712G>A c.5754G>A (p.Leu1918=) c.5208G>A (p.Leu1736=) c.4935G>A (p.Leu1645=) n.336G>A c.1441G>A c.5481G>A (p.Leu1827=) c.4662G>A (p.Leu1554=) c.4116G>A (p.Leu1372=) c.6030G>A (p.Leu2010=) c.5757G>A (p.Leu1919=) c.5211G>A (p.Leu1737=) c.4938G>A (p.Leu1646=) c.4389G>A (p.Leu1463=) c.6303G>A (p.Leu2101=) c.6027G>A (p.Leu2009=) | |
9 | g.115035238A= | CA1874113738 | TNC | c.3842T= (p.Leu1281=) c.4664T= (p.Leu1555=) c.2696T= (p.Leu899=) c.1352T= (p.Leu451=) c.4711T= c.5753T= (p.Leu1918=) c.5207T= (p.Leu1736=) c.4934T= (p.Leu1645=) n.335T= c.1440T= c.5480T= (p.Leu1827=) c.4661T= (p.Leu1554=) c.4115T= (p.Leu1372=) c.6029T= (p.Leu2010=) c.5756T= (p.Leu1919=) c.5210T= (p.Leu1737=) c.4937T= (p.Leu1646=) c.4388T= (p.Leu1463=) c.6302T= (p.Leu2101=) c.6026T= (p.Leu2009=) | |
9 | g.115035238A>C | CA374626460 | TNC | c.3842T>G (p.Leu1281Arg) c.4664T>G (p.Leu1555Arg) c.2696T>G (p.Leu899Arg) c.1352T>G (p.Leu451Arg) c.4711T>G c.5753T>G (p.Leu1918Arg) c.5207T>G (p.Leu1736Arg) c.4934T>G (p.Leu1645Arg) n.335T>G c.1440T>G c.5480T>G (p.Leu1827Arg) c.4661T>G (p.Leu1554Arg) c.4115T>G (p.Leu1372Arg) c.6029T>G (p.Leu2010Arg) c.5756T>G (p.Leu1919Arg) c.5210T>G (p.Leu1737Arg) c.4937T>G (p.Leu1646Arg) c.4388T>G (p.Leu1463Arg) c.6302T>G (p.Leu2101Arg) c.6026T>G (p.Leu2009Arg) | |
9 | g.115035238A>G | CA374626461 | TNC | c.3842T>C (p.Leu1281Pro) c.4664T>C (p.Leu1555Pro) c.2696T>C (p.Leu899Pro) c.1352T>C (p.Leu451Pro) c.4711T>C c.5753T>C (p.Leu1918Pro) c.5207T>C (p.Leu1736Pro) c.4934T>C (p.Leu1645Pro) n.335T>C c.1440T>C c.5480T>C (p.Leu1827Pro) c.4661T>C (p.Leu1554Pro) c.4115T>C (p.Leu1372Pro) c.6029T>C (p.Leu2010Pro) c.5756T>C (p.Leu1919Pro) c.5210T>C (p.Leu1737Pro) c.4937T>C (p.Leu1646Pro) c.4388T>C (p.Leu1463Pro) c.6302T>C (p.Leu2101Pro) c.6026T>C (p.Leu2009Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035238A>T | CA374626462 | TNC | c.3842T>A (p.Leu1281Gln) c.4664T>A (p.Leu1555Gln) c.2696T>A (p.Leu899Gln) c.1352T>A (p.Leu451Gln) c.4711T>A c.5753T>A (p.Leu1918Gln) c.5207T>A (p.Leu1736Gln) c.4934T>A (p.Leu1645Gln) n.335T>A c.1440T>A c.5480T>A (p.Leu1827Gln) c.4661T>A (p.Leu1554Gln) c.4115T>A (p.Leu1372Gln) c.6029T>A (p.Leu2010Gln) c.5756T>A (p.Leu1919Gln) c.5210T>A (p.Leu1737Gln) c.4937T>A (p.Leu1646Gln) c.4388T>A (p.Leu1463Gln) c.6302T>A (p.Leu2101Gln) c.6026T>A (p.Leu2009Gln) | |
9 | g.115035239G>A | CA466790021 | TNC | c.3841C>T (p.Leu1281=) c.4663C>T (p.Leu1555=) c.2695C>T (p.Leu899=) c.1351C>T (p.Leu451=) c.4710C>T c.5752C>T (p.Leu1918=) c.5206C>T (p.Leu1736=) c.4933C>T (p.Leu1645=) n.334C>T c.1439C>T c.5479C>T (p.Leu1827=) c.4660C>T (p.Leu1554=) c.4114C>T (p.Leu1372=) c.6028C>T (p.Leu2010=) c.5755C>T (p.Leu1919=) c.5209C>T (p.Leu1737=) c.4936C>T (p.Leu1646=) c.4387C>T (p.Leu1463=) c.6301C>T (p.Leu2101=) c.6025C>T (p.Leu2009=) | dbSNP |
9 | g.115035239G>C | CA374626463 | TNC | c.3841C>G (p.Leu1281Val) c.4663C>G (p.Leu1555Val) c.2695C>G (p.Leu899Val) c.1351C>G (p.Leu451Val) c.4710C>G c.5752C>G (p.Leu1918Val) c.5206C>G (p.Leu1736Val) c.4933C>G (p.Leu1645Val) n.334C>G c.1439C>G c.5479C>G (p.Leu1827Val) c.4660C>G (p.Leu1554Val) c.4114C>G (p.Leu1372Val) c.6028C>G (p.Leu2010Val) c.5755C>G (p.Leu1919Val) c.5209C>G (p.Leu1737Val) c.4936C>G (p.Leu1646Val) c.4387C>G (p.Leu1463Val) c.6301C>G (p.Leu2101Val) c.6025C>G (p.Leu2009Val) | |
9 | g.115035239G= | CA1874113739 | TNC | c.3841C= (p.Leu1281=) c.4663C= (p.Leu1555=) c.2695C= (p.Leu899=) c.1351C= (p.Leu451=) c.4710C= c.5752C= (p.Leu1918=) c.5206C= (p.Leu1736=) c.4933C= (p.Leu1645=) n.334C= c.1439C= c.5479C= (p.Leu1827=) c.4660C= (p.Leu1554=) c.4114C= (p.Leu1372=) c.6028C= (p.Leu2010=) c.5755C= (p.Leu1919=) c.5209C= (p.Leu1737=) c.4936C= (p.Leu1646=) c.4387C= (p.Leu1463=) c.6301C= (p.Leu2101=) c.6025C= (p.Leu2009=) | |
9 | g.115035239G>T | CA374626464 | TNC | c.3841C>A (p.Leu1281Met) c.4663C>A (p.Leu1555Met) c.2695C>A (p.Leu899Met) c.1351C>A (p.Leu451Met) c.4710C>A c.5752C>A (p.Leu1918Met) c.5206C>A (p.Leu1736Met) c.4933C>A (p.Leu1645Met) n.334C>A c.1439C>A c.5479C>A (p.Leu1827Met) c.4660C>A (p.Leu1554Met) c.4114C>A (p.Leu1372Met) c.6028C>A (p.Leu2010Met) c.5755C>A (p.Leu1919Met) c.5209C>A (p.Leu1737Met) c.4936C>A (p.Leu1646Met) c.4387C>A (p.Leu1463Met) c.6301C>A (p.Leu2101Met) c.6025C>A (p.Leu2009Met) | |
9 | g.115035240G>A | CA466790022 | TNC | c.3840C>T (p.Tyr1280=) c.4662C>T (p.Tyr1554=) c.2694C>T (p.Tyr898=) c.1350C>T (p.Tyr450=) c.4709C>T c.5751C>T (p.Tyr1917=) c.5205C>T (p.Tyr1735=) c.4932C>T (p.Tyr1644=) n.333C>T c.1438C>T c.5478C>T (p.Tyr1826=) c.4659C>T (p.Tyr1553=) c.4113C>T (p.Tyr1371=) c.6027C>T (p.Tyr2009=) c.5754C>T (p.Tyr1918=) c.5208C>T (p.Tyr1736=) c.4935C>T (p.Tyr1645=) c.4386C>T (p.Tyr1462=) c.6300C>T (p.Tyr2100=) c.6024C>T (p.Tyr2008=) | dbSNP |
9 | g.115035240G>C | CA374626465 | TNC | c.3840C>G (p.Tyr1280Ter) c.4662C>G (p.Tyr1554Ter) c.2694C>G (p.Tyr898Ter) c.1350C>G (p.Tyr450Ter) c.4709C>G c.5751C>G (p.Tyr1917Ter) c.5205C>G (p.Tyr1735Ter) c.4932C>G (p.Tyr1644Ter) n.333C>G c.1438C>G c.5478C>G (p.Tyr1826Ter) c.4659C>G (p.Tyr1553Ter) c.4113C>G (p.Tyr1371Ter) c.6027C>G (p.Tyr2009Ter) c.5754C>G (p.Tyr1918Ter) c.5208C>G (p.Tyr1736Ter) c.4935C>G (p.Tyr1645Ter) c.4386C>G (p.Tyr1462Ter) c.6300C>G (p.Tyr2100Ter) c.6024C>G (p.Tyr2008Ter) | |
9 | g.115035240G= | CA1874113740 | TNC | c.3840C= (p.Tyr1280=) c.4662C= (p.Tyr1554=) c.2694C= (p.Tyr898=) c.1350C= (p.Tyr450=) c.4709C= c.5751C= (p.Tyr1917=) c.5205C= (p.Tyr1735=) c.4932C= (p.Tyr1644=) n.333C= c.1438C= c.5478C= (p.Tyr1826=) c.4659C= (p.Tyr1553=) c.4113C= (p.Tyr1371=) c.6027C= (p.Tyr2009=) c.5754C= (p.Tyr1918=) c.5208C= (p.Tyr1736=) c.4935C= (p.Tyr1645=) c.4386C= (p.Tyr1462=) c.6300C= (p.Tyr2100=) c.6024C= (p.Tyr2008=) | |
9 | g.115035240G>T | CA374626466 | TNC | c.3840C>A (p.Tyr1280Ter) c.4662C>A (p.Tyr1554Ter) c.2694C>A (p.Tyr898Ter) c.1350C>A (p.Tyr450Ter) c.4709C>A c.5751C>A (p.Tyr1917Ter) c.5205C>A (p.Tyr1735Ter) c.4932C>A (p.Tyr1644Ter) n.333C>A c.1438C>A c.5478C>A (p.Tyr1826Ter) c.4659C>A (p.Tyr1553Ter) c.4113C>A (p.Tyr1371Ter) c.6027C>A (p.Tyr2009Ter) c.5754C>A (p.Tyr1918Ter) c.5208C>A (p.Tyr1736Ter) c.4935C>A (p.Tyr1645Ter) c.4386C>A (p.Tyr1462Ter) c.6300C>A (p.Tyr2100Ter) c.6024C>A (p.Tyr2008Ter) | |
9 | g.115035241T>A | CA374626468 | TNC | c.3839A>T (p.Tyr1280Phe) c.4661A>T (p.Tyr1554Phe) c.2693A>T (p.Tyr898Phe) c.1349A>T (p.Tyr450Phe) c.4708A>T c.5750A>T (p.Tyr1917Phe) c.5204A>T (p.Tyr1735Phe) c.4931A>T (p.Tyr1644Phe) n.332A>T c.1437A>T c.5477A>T (p.Tyr1826Phe) c.4658A>T (p.Tyr1553Phe) c.4112A>T (p.Tyr1371Phe) c.6026A>T (p.Tyr2009Phe) c.5753A>T (p.Tyr1918Phe) c.5207A>T (p.Tyr1736Phe) c.4934A>T (p.Tyr1645Phe) c.4385A>T (p.Tyr1462Phe) c.6299A>T (p.Tyr2100Phe) c.6023A>T (p.Tyr2008Phe) | |
9 | g.115035241T>C | CA374626469 | TNC | c.3839A>G (p.Tyr1280Cys) c.4661A>G (p.Tyr1554Cys) c.2693A>G (p.Tyr898Cys) c.1349A>G (p.Tyr450Cys) c.4708A>G c.5750A>G (p.Tyr1917Cys) c.5204A>G (p.Tyr1735Cys) c.4931A>G (p.Tyr1644Cys) n.332A>G c.1437A>G c.5477A>G (p.Tyr1826Cys) c.4658A>G (p.Tyr1553Cys) c.4112A>G (p.Tyr1371Cys) c.6026A>G (p.Tyr2009Cys) c.5753A>G (p.Tyr1918Cys) c.5207A>G (p.Tyr1736Cys) c.4934A>G (p.Tyr1645Cys) c.4385A>G (p.Tyr1462Cys) c.6299A>G (p.Tyr2100Cys) c.6023A>G (p.Tyr2008Cys) | |
9 | g.115035241T>G | CA374626467 | TNC | c.3839A>C (p.Tyr1280Ser) c.4661A>C (p.Tyr1554Ser) c.2693A>C (p.Tyr898Ser) c.1349A>C (p.Tyr450Ser) c.4708A>C c.5750A>C (p.Tyr1917Ser) c.5204A>C (p.Tyr1735Ser) c.4931A>C (p.Tyr1644Ser) n.332A>C c.1437A>C c.5477A>C (p.Tyr1826Ser) c.4658A>C (p.Tyr1553Ser) c.4112A>C (p.Tyr1371Ser) c.6026A>C (p.Tyr2009Ser) c.5753A>C (p.Tyr1918Ser) c.5207A>C (p.Tyr1736Ser) c.4934A>C (p.Tyr1645Ser) c.4385A>C (p.Tyr1462Ser) c.6299A>C (p.Tyr2100Ser) c.6023A>C (p.Tyr2008Ser) | |
9 | g.115035242A>C | CA374626470 | TNC | c.3838T>G (p.Tyr1280Asp) c.4660T>G (p.Tyr1554Asp) c.2692T>G (p.Tyr898Asp) c.1348T>G (p.Tyr450Asp) c.4707T>G c.5749T>G (p.Tyr1917Asp) c.5203T>G (p.Tyr1735Asp) c.4930T>G (p.Tyr1644Asp) n.331T>G c.1436T>G c.5476T>G (p.Tyr1826Asp) c.4657T>G (p.Tyr1553Asp) c.4111T>G (p.Tyr1371Asp) c.6025T>G (p.Tyr2009Asp) c.5752T>G (p.Tyr1918Asp) c.5206T>G (p.Tyr1736Asp) c.4933T>G (p.Tyr1645Asp) c.4384T>G (p.Tyr1462Asp) c.6298T>G (p.Tyr2100Asp) c.6022T>G (p.Tyr2008Asp) | |
9 | g.115035242A>G | CA374626471 | TNC | c.3838T>C (p.Tyr1280His) c.4660T>C (p.Tyr1554His) c.2692T>C (p.Tyr898His) c.1348T>C (p.Tyr450His) c.4707T>C c.5749T>C (p.Tyr1917His) c.5203T>C (p.Tyr1735His) c.4930T>C (p.Tyr1644His) n.331T>C c.1436T>C c.5476T>C (p.Tyr1826His) c.4657T>C (p.Tyr1553His) c.4111T>C (p.Tyr1371His) c.6025T>C (p.Tyr2009His) c.5752T>C (p.Tyr1918His) c.5206T>C (p.Tyr1736His) c.4933T>C (p.Tyr1645His) c.4384T>C (p.Tyr1462His) c.6298T>C (p.Tyr2100His) c.6022T>C (p.Tyr2008His) | |
9 | g.115035242A>T | CA374626472 | TNC | c.3838T>A (p.Tyr1280Asn) c.4660T>A (p.Tyr1554Asn) c.2692T>A (p.Tyr898Asn) c.1348T>A (p.Tyr450Asn) c.4707T>A c.5749T>A (p.Tyr1917Asn) c.5203T>A (p.Tyr1735Asn) c.4930T>A (p.Tyr1644Asn) n.331T>A c.1436T>A c.5476T>A (p.Tyr1826Asn) c.4657T>A (p.Tyr1553Asn) c.4111T>A (p.Tyr1371Asn) c.6025T>A (p.Tyr2009Asn) c.5752T>A (p.Tyr1918Asn) c.5206T>A (p.Tyr1736Asn) c.4933T>A (p.Tyr1645Asn) c.4384T>A (p.Tyr1462Asn) c.6298T>A (p.Tyr2100Asn) c.6022T>A (p.Tyr2008Asn) | |
9 | g.115035243A>C | CA466790023 | TNC | c.3837T>G (p.Gly1279=) c.4659T>G (p.Gly1553=) c.2691T>G (p.Gly897=) c.1347T>G (p.Gly449=) c.4706T>G c.5748T>G (p.Gly1916=) c.5202T>G (p.Gly1734=) c.4929T>G (p.Gly1643=) n.330T>G c.1435T>G c.5475T>G (p.Gly1825=) c.4656T>G (p.Gly1552=) c.4110T>G (p.Gly1370=) c.6024T>G (p.Gly2008=) c.5751T>G (p.Gly1917=) c.5205T>G (p.Gly1735=) c.4932T>G (p.Gly1644=) c.4383T>G (p.Gly1461=) c.6297T>G (p.Gly2099=) c.6021T>G (p.Gly2007=) | |
9 | g.115035243A>G | CA466790025 | TNC | c.3837T>C (p.Gly1279=) c.4659T>C (p.Gly1553=) c.2691T>C (p.Gly897=) c.1347T>C (p.Gly449=) c.4706T>C c.5748T>C (p.Gly1916=) c.5202T>C (p.Gly1734=) c.4929T>C (p.Gly1643=) n.330T>C c.1435T>C c.5475T>C (p.Gly1825=) c.4656T>C (p.Gly1552=) c.4110T>C (p.Gly1370=) c.6024T>C (p.Gly2008=) c.5751T>C (p.Gly1917=) c.5205T>C (p.Gly1735=) c.4932T>C (p.Gly1644=) c.4383T>C (p.Gly1461=) c.6297T>C (p.Gly2099=) c.6021T>C (p.Gly2007=) | |
9 | g.115035243A>T | CA466790024 | TNC | c.3837T>A (p.Gly1279=) c.4659T>A (p.Gly1553=) c.2691T>A (p.Gly897=) c.1347T>A (p.Gly449=) c.4706T>A c.5748T>A (p.Gly1916=) c.5202T>A (p.Gly1734=) c.4929T>A (p.Gly1643=) n.330T>A c.1435T>A c.5475T>A (p.Gly1825=) c.4656T>A (p.Gly1552=) c.4110T>A (p.Gly1370=) c.6024T>A (p.Gly2008=) c.5751T>A (p.Gly1917=) c.5205T>A (p.Gly1735=) c.4932T>A (p.Gly1644=) c.4383T>A (p.Gly1461=) c.6297T>A (p.Gly2099=) c.6021T>A (p.Gly2007=) | |
9 | g.115035244C>A | CA374626473 | TNC | c.3836G>T (p.Gly1279Val) c.4658G>T (p.Gly1553Val) c.2690G>T (p.Gly897Val) c.1346G>T (p.Gly449Val) c.4705G>T c.5747G>T (p.Gly1916Val) c.5201G>T (p.Gly1734Val) c.4928G>T (p.Gly1643Val) n.329G>T c.1434G>T c.5474G>T (p.Gly1825Val) c.4655G>T (p.Gly1552Val) c.4109G>T (p.Gly1370Val) c.6023G>T (p.Gly2008Val) c.5750G>T (p.Gly1917Val) c.5204G>T (p.Gly1735Val) c.4931G>T (p.Gly1644Val) c.4382G>T (p.Gly1461Val) c.6296G>T (p.Gly2099Val) c.6020G>T (p.Gly2007Val) | |
9 | g.115035244C>G | CA374626474 | TNC | c.3836G>C (p.Gly1279Ala) c.4658G>C (p.Gly1553Ala) c.2690G>C (p.Gly897Ala) c.1346G>C (p.Gly449Ala) c.4705G>C c.5747G>C (p.Gly1916Ala) c.5201G>C (p.Gly1734Ala) c.4928G>C (p.Gly1643Ala) n.329G>C c.1434G>C c.5474G>C (p.Gly1825Ala) c.4655G>C (p.Gly1552Ala) c.4109G>C (p.Gly1370Ala) c.6023G>C (p.Gly2008Ala) c.5750G>C (p.Gly1917Ala) c.5204G>C (p.Gly1735Ala) c.4931G>C (p.Gly1644Ala) c.4382G>C (p.Gly1461Ala) c.6296G>C (p.Gly2099Ala) c.6020G>C (p.Gly2007Ala) | |
9 | g.115035244C>T | CA374626475 | TNC | c.3836G>A (p.Gly1279Asp) c.4658G>A (p.Gly1553Asp) c.2690G>A (p.Gly897Asp) c.1346G>A (p.Gly449Asp) c.4705G>A c.5747G>A (p.Gly1916Asp) c.5201G>A (p.Gly1734Asp) c.4928G>A (p.Gly1643Asp) n.329G>A c.1434G>A c.5474G>A (p.Gly1825Asp) c.4655G>A (p.Gly1552Asp) c.4109G>A (p.Gly1370Asp) c.6023G>A (p.Gly2008Asp) c.5750G>A (p.Gly1917Asp) c.5204G>A (p.Gly1735Asp) c.4931G>A (p.Gly1644Asp) c.4382G>A (p.Gly1461Asp) c.6296G>A (p.Gly2099Asp) c.6020G>A (p.Gly2007Asp) | |
9 | g.115035245C>A | CA374626477 | TNC | c.3835G>T (p.Gly1279Cys) c.4657G>T (p.Gly1553Cys) c.2689G>T (p.Gly897Cys) c.1345G>T (p.Gly449Cys) c.4704G>T c.5746G>T (p.Gly1916Cys) c.5200G>T (p.Gly1734Cys) c.4927G>T (p.Gly1643Cys) n.328G>T c.1433G>T c.5473G>T (p.Gly1825Cys) c.4654G>T (p.Gly1552Cys) c.4108G>T (p.Gly1370Cys) c.6022G>T (p.Gly2008Cys) c.5749G>T (p.Gly1917Cys) c.5203G>T (p.Gly1735Cys) c.4930G>T (p.Gly1644Cys) c.4381G>T (p.Gly1461Cys) c.6295G>T (p.Gly2099Cys) c.6019G>T (p.Gly2007Cys) | |
9 | g.115035245C= | CA1874113741 | TNC | c.3835G= (p.Gly1279=) c.4657G= (p.Gly1553=) c.2689G= (p.Gly897=) c.1345G= (p.Gly449=) c.4704G= c.5746G= (p.Gly1916=) c.5200G= (p.Gly1734=) c.4927G= (p.Gly1643=) n.328G= c.1433G= c.5473G= (p.Gly1825=) c.4654G= (p.Gly1552=) c.4108G= (p.Gly1370=) c.6022G= (p.Gly2008=) c.5749G= (p.Gly1917=) c.5203G= (p.Gly1735=) c.4930G= (p.Gly1644=) c.4381G= (p.Gly1461=) c.6295G= (p.Gly2099=) c.6019G= (p.Gly2007=) | |
9 | g.115035245C>G | CA374626476 | TNC | c.3835G>C (p.Gly1279Arg) c.4657G>C (p.Gly1553Arg) c.2689G>C (p.Gly897Arg) c.1345G>C (p.Gly449Arg) c.4704G>C c.5746G>C (p.Gly1916Arg) c.5200G>C (p.Gly1734Arg) c.4927G>C (p.Gly1643Arg) n.328G>C c.1433G>C c.5473G>C (p.Gly1825Arg) c.4654G>C (p.Gly1552Arg) c.4108G>C (p.Gly1370Arg) c.6022G>C (p.Gly2008Arg) c.5749G>C (p.Gly1917Arg) c.5203G>C (p.Gly1735Arg) c.4930G>C (p.Gly1644Arg) c.4381G>C (p.Gly1461Arg) c.6295G>C (p.Gly2099Arg) c.6019G>C (p.Gly2007Arg) | |
9 | g.115035245C>T | CA5207544 | TNC | c.3835G>A (p.Gly1279Ser) c.4657G>A (p.Gly1553Ser) c.2689G>A (p.Gly897Ser) c.1345G>A (p.Gly449Ser) c.4704G>A c.5746G>A (p.Gly1916Ser) c.5200G>A (p.Gly1734Ser) c.4927G>A (p.Gly1643Ser) n.328G>A c.1433G>A c.5473G>A (p.Gly1825Ser) c.4654G>A (p.Gly1552Ser) c.4108G>A (p.Gly1370Ser) c.6022G>A (p.Gly2008Ser) c.5749G>A (p.Gly1917Ser) c.5203G>A (p.Gly1735Ser) c.4930G>A (p.Gly1644Ser) c.4381G>A (p.Gly1461Ser) c.6295G>A (p.Gly2099Ser) c.6019G>A (p.Gly2007Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.115035246G>A | CA5207546 | TNC | c.3834C>T (p.Thr1278=) c.4656C>T (p.Thr1552=) c.2688C>T (p.Thr896=) c.1344C>T (p.Thr448=) c.4703C>T c.5745C>T (p.Thr1915=) c.5199C>T (p.Thr1733=) c.4926C>T (p.Thr1642=) n.327C>T c.1432C>T c.5472C>T (p.Thr1824=) c.4653C>T (p.Thr1551=) c.4107C>T (p.Thr1369=) c.6021C>T (p.Thr2007=) c.5748C>T (p.Thr1916=) c.5202C>T (p.Thr1734=) c.4929C>T (p.Thr1643=) c.4380C>T (p.Thr1460=) c.6294C>T (p.Thr2098=) c.6018C>T (p.Thr2006=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035246G>C | CA466790026 | TNC | c.3834C>G (p.Thr1278=) c.4656C>G (p.Thr1552=) c.2688C>G (p.Thr896=) c.1344C>G (p.Thr448=) c.4703C>G c.5745C>G (p.Thr1915=) c.5199C>G (p.Thr1733=) c.4926C>G (p.Thr1642=) n.327C>G c.1432C>G c.5472C>G (p.Thr1824=) c.4653C>G (p.Thr1551=) c.4107C>G (p.Thr1369=) c.6021C>G (p.Thr2007=) c.5748C>G (p.Thr1916=) c.5202C>G (p.Thr1734=) c.4929C>G (p.Thr1643=) c.4380C>G (p.Thr1460=) c.6294C>G (p.Thr2098=) c.6018C>G (p.Thr2006=) | |
9 | g.115035246G= | CA1874113742 | TNC | c.3834C= (p.Thr1278=) c.4656C= (p.Thr1552=) c.2688C= (p.Thr896=) c.1344C= (p.Thr448=) c.4703C= c.5745C= (p.Thr1915=) c.5199C= (p.Thr1733=) c.4926C= (p.Thr1642=) n.327C= c.1432C= c.5472C= (p.Thr1824=) c.4653C= (p.Thr1551=) c.4107C= (p.Thr1369=) c.6021C= (p.Thr2007=) c.5748C= (p.Thr1916=) c.5202C= (p.Thr1734=) c.4929C= (p.Thr1643=) c.4380C= (p.Thr1460=) c.6294C= (p.Thr2098=) c.6018C= (p.Thr2006=) | |
9 | g.115035246G>T | CA5207545 | TNC | c.3834C>A (p.Thr1278=) c.4656C>A (p.Thr1552=) c.2688C>A (p.Thr896=) c.1344C>A (p.Thr448=) c.4703C>A c.5745C>A (p.Thr1915=) c.5199C>A (p.Thr1733=) c.4926C>A (p.Thr1642=) n.327C>A c.1432C>A c.5472C>A (p.Thr1824=) c.4653C>A (p.Thr1551=) c.4107C>A (p.Thr1369=) c.6021C>A (p.Thr2007=) c.5748C>A (p.Thr1916=) c.5202C>A (p.Thr1734=) c.4929C>A (p.Thr1643=) c.4380C>A (p.Thr1460=) c.6294C>A (p.Thr2098=) c.6018C>A (p.Thr2006=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035247G>A | CA374626478 | TNC | c.3833C>T (p.Thr1278Ile) c.4655C>T (p.Thr1552Ile) c.2687C>T (p.Thr896Ile) c.1343C>T (p.Thr448Ile) c.4702C>T c.5744C>T (p.Thr1915Ile) c.5198C>T (p.Thr1733Ile) c.4925C>T (p.Thr1642Ile) n.326C>T c.1431C>T c.5471C>T (p.Thr1824Ile) c.4652C>T (p.Thr1551Ile) c.4106C>T (p.Thr1369Ile) c.6020C>T (p.Thr2007Ile) c.5747C>T (p.Thr1916Ile) c.5201C>T (p.Thr1734Ile) c.4928C>T (p.Thr1643Ile) c.4379C>T (p.Thr1460Ile) c.6293C>T (p.Thr2098Ile) c.6017C>T (p.Thr2006Ile) | |
9 | g.115035247G>C | CA374626479 | TNC | c.3833C>G (p.Thr1278Ser) c.4655C>G (p.Thr1552Ser) c.2687C>G (p.Thr896Ser) c.1343C>G (p.Thr448Ser) c.4702C>G c.5744C>G (p.Thr1915Ser) c.5198C>G (p.Thr1733Ser) c.4925C>G (p.Thr1642Ser) n.326C>G c.1431C>G c.5471C>G (p.Thr1824Ser) c.4652C>G (p.Thr1551Ser) c.4106C>G (p.Thr1369Ser) c.6020C>G (p.Thr2007Ser) c.5747C>G (p.Thr1916Ser) c.5201C>G (p.Thr1734Ser) c.4928C>G (p.Thr1643Ser) c.4379C>G (p.Thr1460Ser) c.6293C>G (p.Thr2098Ser) c.6017C>G (p.Thr2006Ser) | |
9 | g.115035247G>T | CA374626480 | TNC | c.3833C>A (p.Thr1278Asn) c.4655C>A (p.Thr1552Asn) c.2687C>A (p.Thr896Asn) c.1343C>A (p.Thr448Asn) c.4702C>A c.5744C>A (p.Thr1915Asn) c.5198C>A (p.Thr1733Asn) c.4925C>A (p.Thr1642Asn) n.326C>A c.1431C>A c.5471C>A (p.Thr1824Asn) c.4652C>A (p.Thr1551Asn) c.4106C>A (p.Thr1369Asn) c.6020C>A (p.Thr2007Asn) c.5747C>A (p.Thr1916Asn) c.5201C>A (p.Thr1734Asn) c.4928C>A (p.Thr1643Asn) c.4379C>A (p.Thr1460Asn) c.6293C>A (p.Thr2098Asn) c.6017C>A (p.Thr2006Asn) | |
9 | g.115035248T>A | CA374626483 | TNC | c.3832A>T (p.Thr1278Ser) c.4654A>T (p.Thr1552Ser) c.2686A>T (p.Thr896Ser) c.1342A>T (p.Thr448Ser) c.4701A>T c.5743A>T (p.Thr1915Ser) c.5197A>T (p.Thr1733Ser) c.4924A>T (p.Thr1642Ser) n.325A>T c.1430A>T c.5470A>T (p.Thr1824Ser) c.4651A>T (p.Thr1551Ser) c.4105A>T (p.Thr1369Ser) c.6019A>T (p.Thr2007Ser) c.5746A>T (p.Thr1916Ser) c.5200A>T (p.Thr1734Ser) c.4927A>T (p.Thr1643Ser) c.4378A>T (p.Thr1460Ser) c.6292A>T (p.Thr2098Ser) c.6016A>T (p.Thr2006Ser) | |
9 | g.115035248T>C | CA374626482 | TNC | c.3832A>G (p.Thr1278Ala) c.4654A>G (p.Thr1552Ala) c.2686A>G (p.Thr896Ala) c.1342A>G (p.Thr448Ala) c.4701A>G c.5743A>G (p.Thr1915Ala) c.5197A>G (p.Thr1733Ala) c.4924A>G (p.Thr1642Ala) n.325A>G c.1430A>G c.5470A>G (p.Thr1824Ala) c.4651A>G (p.Thr1551Ala) c.4105A>G (p.Thr1369Ala) c.6019A>G (p.Thr2007Ala) c.5746A>G (p.Thr1916Ala) c.5200A>G (p.Thr1734Ala) c.4927A>G (p.Thr1643Ala) c.4378A>G (p.Thr1460Ala) c.6292A>G (p.Thr2098Ala) c.6016A>G (p.Thr2006Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.115035248T>G | CA374626481 | TNC | c.3832A>C (p.Thr1278Pro) c.4654A>C (p.Thr1552Pro) c.2686A>C (p.Thr896Pro) c.1342A>C (p.Thr448Pro) c.4701A>C c.5743A>C (p.Thr1915Pro) c.5197A>C (p.Thr1733Pro) c.4924A>C (p.Thr1642Pro) n.325A>C c.1430A>C c.5470A>C (p.Thr1824Pro) c.4651A>C (p.Thr1551Pro) c.4105A>C (p.Thr1369Pro) c.6019A>C (p.Thr2007Pro) c.5746A>C (p.Thr1916Pro) c.5200A>C (p.Thr1734Pro) c.4927A>C (p.Thr1643Pro) c.4378A>C (p.Thr1460Pro) c.6292A>C (p.Thr2098Pro) c.6016A>C (p.Thr2006Pro) | |
9 | g.115035248T= | CA1874113743 | TNC | c.3832A= (p.Thr1278=) c.4654A= (p.Thr1552=) c.2686A= (p.Thr896=) c.1342A= (p.Thr448=) c.4701A= c.5743A= (p.Thr1915=) c.5197A= (p.Thr1733=) c.4924A= (p.Thr1642=) n.325A= c.1430A= c.5470A= (p.Thr1824=) c.4651A= (p.Thr1551=) c.4105A= (p.Thr1369=) c.6019A= (p.Thr2007=) c.5746A= (p.Thr1916=) c.5200A= (p.Thr1734=) c.4927A= (p.Thr1643=) c.4378A= (p.Thr1460=) c.6292A= (p.Thr2098=) c.6016A= (p.Thr2006=) | |
9 | g.115035249G>A | CA466790027 | TNC | c.3831C>T (p.Val1277=) c.4653C>T (p.Val1551=) c.2685C>T (p.Val895=) c.1341C>T (p.Val447=) c.4700C>T c.5742C>T (p.Val1914=) c.5196C>T (p.Val1732=) c.4923C>T (p.Val1641=) n.324C>T c.1429C>T c.5469C>T (p.Val1823=) c.4650C>T (p.Val1550=) c.4104C>T (p.Val1368=) c.6018C>T (p.Val2006=) c.5745C>T (p.Val1915=) c.5199C>T (p.Val1733=) c.4926C>T (p.Val1642=) c.4377C>T (p.Val1459=) c.6291C>T (p.Val2097=) c.6015C>T (p.Val2005=) | |
9 | g.115035249G>C | CA466790028 | TNC | c.3831C>G (p.Val1277=) c.4653C>G (p.Val1551=) c.2685C>G (p.Val895=) c.1341C>G (p.Val447=) c.4700C>G c.5742C>G (p.Val1914=) c.5196C>G (p.Val1732=) c.4923C>G (p.Val1641=) n.324C>G c.1429C>G c.5469C>G (p.Val1823=) c.4650C>G (p.Val1550=) c.4104C>G (p.Val1368=) c.6018C>G (p.Val2006=) c.5745C>G (p.Val1915=) c.5199C>G (p.Val1733=) c.4926C>G (p.Val1642=) c.4377C>G (p.Val1459=) c.6291C>G (p.Val2097=) c.6015C>G (p.Val2005=) | |
9 | g.115035249G>T | CA466790029 | TNC | c.3831C>A (p.Val1277=) c.4653C>A (p.Val1551=) c.2685C>A (p.Val895=) c.1341C>A (p.Val447=) c.4700C>A c.5742C>A (p.Val1914=) c.5196C>A (p.Val1732=) c.4923C>A (p.Val1641=) n.324C>A c.1429C>A c.5469C>A (p.Val1823=) c.4650C>A (p.Val1550=) c.4104C>A (p.Val1368=) c.6018C>A (p.Val2006=) c.5745C>A (p.Val1915=) c.5199C>A (p.Val1733=) c.4926C>A (p.Val1642=) c.4377C>A (p.Val1459=) c.6291C>A (p.Val2097=) c.6015C>A (p.Val2005=) | |
9 | g.115035250A>C | CA374626484 | TNC | c.3830T>G (p.Val1277Gly) c.4652T>G (p.Val1551Gly) c.2684T>G (p.Val895Gly) c.1340T>G (p.Val447Gly) c.4699T>G c.5741T>G (p.Val1914Gly) c.5195T>G (p.Val1732Gly) c.4922T>G (p.Val1641Gly) n.323T>G c.1428T>G c.5468T>G (p.Val1823Gly) c.4649T>G (p.Val1550Gly) c.4103T>G (p.Val1368Gly) c.6017T>G (p.Val2006Gly) c.5744T>G (p.Val1915Gly) c.5198T>G (p.Val1733Gly) c.4925T>G (p.Val1642Gly) c.4376T>G (p.Val1459Gly) c.6290T>G (p.Val2097Gly) c.6014T>G (p.Val2005Gly) | |
9 | g.115035250A>G | CA374626486 | TNC | c.3830T>C (p.Val1277Ala) c.4652T>C (p.Val1551Ala) c.2684T>C (p.Val895Ala) c.1340T>C (p.Val447Ala) c.4699T>C c.5741T>C (p.Val1914Ala) c.5195T>C (p.Val1732Ala) c.4922T>C (p.Val1641Ala) n.323T>C c.1428T>C c.5468T>C (p.Val1823Ala) c.4649T>C (p.Val1550Ala) c.4103T>C (p.Val1368Ala) c.6017T>C (p.Val2006Ala) c.5744T>C (p.Val1915Ala) c.5198T>C (p.Val1733Ala) c.4925T>C (p.Val1642Ala) c.4376T>C (p.Val1459Ala) c.6290T>C (p.Val2097Ala) c.6014T>C (p.Val2005Ala) | |
9 | g.115035250A>T | CA374626485 | TNC | c.3830T>A (p.Val1277Asp) c.4652T>A (p.Val1551Asp) c.2684T>A (p.Val895Asp) c.1340T>A (p.Val447Asp) c.4699T>A c.5741T>A (p.Val1914Asp) c.5195T>A (p.Val1732Asp) c.4922T>A (p.Val1641Asp) n.323T>A c.1428T>A c.5468T>A (p.Val1823Asp) c.4649T>A (p.Val1550Asp) c.4103T>A (p.Val1368Asp) c.6017T>A (p.Val2006Asp) c.5744T>A (p.Val1915Asp) c.5198T>A (p.Val1733Asp) c.4925T>A (p.Val1642Asp) c.4376T>A (p.Val1459Asp) c.6290T>A (p.Val2097Asp) c.6014T>A (p.Val2005Asp) | |
9 | g.115035251C>A | CA374626487 | TNC | c.3829G>T (p.Val1277Phe) c.4651G>T (p.Val1551Phe) c.2683G>T (p.Val895Phe) c.1339G>T (p.Val447Phe) c.4698G>T c.5740G>T (p.Val1914Phe) c.5194G>T (p.Val1732Phe) c.4921G>T (p.Val1641Phe) n.322G>T c.1427G>T c.5467G>T (p.Val1823Phe) c.4648G>T (p.Val1550Phe) c.4102G>T (p.Val1368Phe) c.6016G>T (p.Val2006Phe) c.5743G>T (p.Val1915Phe) c.5197G>T (p.Val1733Phe) c.4924G>T (p.Val1642Phe) c.4375G>T (p.Val1459Phe) c.6289G>T (p.Val2097Phe) c.6013G>T (p.Val2005Phe) | |
9 | g.115035251C>G | CA374626488 | TNC | c.3829G>C (p.Val1277Leu) c.4651G>C (p.Val1551Leu) c.2683G>C (p.Val895Leu) c.1339G>C (p.Val447Leu) c.4698G>C c.5740G>C (p.Val1914Leu) c.5194G>C (p.Val1732Leu) c.4921G>C (p.Val1641Leu) n.322G>C c.1427G>C c.5467G>C (p.Val1823Leu) c.4648G>C (p.Val1550Leu) c.4102G>C (p.Val1368Leu) c.6016G>C (p.Val2006Leu) c.5743G>C (p.Val1915Leu) c.5197G>C (p.Val1733Leu) c.4924G>C (p.Val1642Leu) c.4375G>C (p.Val1459Leu) c.6289G>C (p.Val2097Leu) c.6013G>C (p.Val2005Leu) | |
9 | g.115035251C>T | CA374626489 | TNC | c.3829G>A (p.Val1277Ile) c.4651G>A (p.Val1551Ile) c.2683G>A (p.Val895Ile) c.1339G>A (p.Val447Ile) c.4698G>A c.5740G>A (p.Val1914Ile) c.5194G>A (p.Val1732Ile) c.4921G>A (p.Val1641Ile) n.322G>A c.1427G>A c.5467G>A (p.Val1823Ile) c.4648G>A (p.Val1550Ile) c.4102G>A (p.Val1368Ile) c.6016G>A (p.Val2006Ile) c.5743G>A (p.Val1915Ile) c.5197G>A (p.Val1733Ile) c.4924G>A (p.Val1642Ile) c.4375G>A (p.Val1459Ile) c.6289G>A (p.Val2097Ile) c.6013G>A (p.Val2005Ile) | |
9 | g.115035252T>A | CA466790031 | TNC | c.3828A>T (p.Ser1276=) c.4650A>T (p.Ser1550=) c.2682A>T (p.Ser894=) c.1338A>T (p.Ser446=) c.4697A>T c.5739A>T (p.Ser1913=) c.5193A>T (p.Ser1731=) c.4920A>T (p.Ser1640=) n.321A>T c.1426A>T c.5466A>T (p.Ser1822=) c.4647A>T (p.Ser1549=) c.4101A>T (p.Ser1367=) c.6015A>T (p.Ser2005=) c.5742A>T (p.Ser1914=) c.5196A>T (p.Ser1732=) c.4923A>T (p.Ser1641=) c.4374A>T (p.Ser1458=) c.6288A>T (p.Ser2096=) c.6012A>T (p.Ser2004=) | |
9 | g.115035252T>C | CA466790032 | TNC | c.3828A>G (p.Ser1276=) c.4650A>G (p.Ser1550=) c.2682A>G (p.Ser894=) c.1338A>G (p.Ser446=) c.4697A>G c.5739A>G (p.Ser1913=) c.5193A>G (p.Ser1731=) c.4920A>G (p.Ser1640=) n.321A>G c.1426A>G c.5466A>G (p.Ser1822=) c.4647A>G (p.Ser1549=) c.4101A>G (p.Ser1367=) c.6015A>G (p.Ser2005=) c.5742A>G (p.Ser1914=) c.5196A>G (p.Ser1732=) c.4923A>G (p.Ser1641=) c.4374A>G (p.Ser1458=) c.6288A>G (p.Ser2096=) c.6012A>G (p.Ser2004=) | |
9 | g.115035252T>G | CA466790030 | TNC | c.3828A>C (p.Ser1276=) c.4650A>C (p.Ser1550=) c.2682A>C (p.Ser894=) c.1338A>C (p.Ser446=) c.4697A>C c.5739A>C (p.Ser1913=) c.5193A>C (p.Ser1731=) c.4920A>C (p.Ser1640=) n.321A>C c.1426A>C c.5466A>C (p.Ser1822=) c.4647A>C (p.Ser1549=) c.4101A>C (p.Ser1367=) c.6015A>C (p.Ser2005=) c.5742A>C (p.Ser1914=) c.5196A>C (p.Ser1732=) c.4923A>C (p.Ser1641=) c.4374A>C (p.Ser1458=) c.6288A>C (p.Ser2096=) c.6012A>C (p.Ser2004=) | COSMIC |
9 | g.115035253G>A | CA374626490 | TNC | c.3827C>T (p.Ser1276Leu) c.4649C>T (p.Ser1550Leu) c.2681C>T (p.Ser894Leu) c.1337C>T (p.Ser446Leu) c.4696C>T c.5738C>T (p.Ser1913Leu) c.5192C>T (p.Ser1731Leu) c.4919C>T (p.Ser1640Leu) n.320C>T c.1425C>T c.5465C>T (p.Ser1822Leu) c.4646C>T (p.Ser1549Leu) c.4100C>T (p.Ser1367Leu) c.6014C>T (p.Ser2005Leu) c.5741C>T (p.Ser1914Leu) c.5195C>T (p.Ser1732Leu) c.4922C>T (p.Ser1641Leu) c.4373C>T (p.Ser1458Leu) c.6287C>T (p.Ser2096Leu) c.6011C>T (p.Ser2004Leu) | |
9 | g.115035253G>C | CA374626491 | TNC | c.3827C>G (p.Ser1276Ter) c.4649C>G (p.Ser1550Ter) c.2681C>G (p.Ser894Ter) c.1337C>G (p.Ser446Ter) c.4696C>G c.5738C>G (p.Ser1913Ter) c.5192C>G (p.Ser1731Ter) c.4919C>G (p.Ser1640Ter) n.320C>G c.1425C>G c.5465C>G (p.Ser1822Ter) c.4646C>G (p.Ser1549Ter) c.4100C>G (p.Ser1367Ter) c.6014C>G (p.Ser2005Ter) c.5741C>G (p.Ser1914Ter) c.5195C>G (p.Ser1732Ter) c.4922C>G (p.Ser1641Ter) c.4373C>G (p.Ser1458Ter) c.6287C>G (p.Ser2096Ter) c.6011C>G (p.Ser2004Ter) | |
9 | g.115035253G>T | CA374626492 | TNC | c.3827C>A (p.Ser1276Ter) c.4649C>A (p.Ser1550Ter) c.2681C>A (p.Ser894Ter) c.1337C>A (p.Ser446Ter) c.4696C>A c.5738C>A (p.Ser1913Ter) c.5192C>A (p.Ser1731Ter) c.4919C>A (p.Ser1640Ter) n.320C>A c.1425C>A c.5465C>A (p.Ser1822Ter) c.4646C>A (p.Ser1549Ter) c.4100C>A (p.Ser1367Ter) c.6014C>A (p.Ser2005Ter) c.5741C>A (p.Ser1914Ter) c.5195C>A (p.Ser1732Ter) c.4922C>A (p.Ser1641Ter) c.4373C>A (p.Ser1458Ter) c.6287C>A (p.Ser2096Ter) c.6011C>A (p.Ser2004Ter) | |
9 | g.115035254A>C | CA374626493 | TNC | c.3826T>G (p.Ser1276Ala) c.4648T>G (p.Ser1550Ala) c.2680T>G (p.Ser894Ala) c.1336T>G (p.Ser446Ala) c.4695T>G c.5737T>G (p.Ser1913Ala) c.5191T>G (p.Ser1731Ala) c.4918T>G (p.Ser1640Ala) n.319T>G c.1424T>G c.5464T>G (p.Ser1822Ala) c.4645T>G (p.Ser1549Ala) c.4099T>G (p.Ser1367Ala) c.6013T>G (p.Ser2005Ala) c.5740T>G (p.Ser1914Ala) c.5194T>G (p.Ser1732Ala) c.4921T>G (p.Ser1641Ala) c.4372T>G (p.Ser1458Ala) c.6286T>G (p.Ser2096Ala) c.6010T>G (p.Ser2004Ala) | |
9 | g.115035254A>G | CA374626494 | TNC | c.3826T>C (p.Ser1276Pro) c.4648T>C (p.Ser1550Pro) c.2680T>C (p.Ser894Pro) c.1336T>C (p.Ser446Pro) c.4695T>C c.5737T>C (p.Ser1913Pro) c.5191T>C (p.Ser1731Pro) c.4918T>C (p.Ser1640Pro) n.319T>C c.1424T>C c.5464T>C (p.Ser1822Pro) c.4645T>C (p.Ser1549Pro) c.4099T>C (p.Ser1367Pro) c.6013T>C (p.Ser2005Pro) c.5740T>C (p.Ser1914Pro) c.5194T>C (p.Ser1732Pro) c.4921T>C (p.Ser1641Pro) c.4372T>C (p.Ser1458Pro) c.6286T>C (p.Ser2096Pro) c.6010T>C (p.Ser2004Pro) | |
9 | g.115035254A>T | CA374626495 | TNC | c.3826T>A (p.Ser1276Thr) c.4648T>A (p.Ser1550Thr) c.2680T>A (p.Ser894Thr) c.1336T>A (p.Ser446Thr) c.4695T>A c.5737T>A (p.Ser1913Thr) c.5191T>A (p.Ser1731Thr) c.4918T>A (p.Ser1640Thr) n.319T>A c.1424T>A c.5464T>A (p.Ser1822Thr) c.4645T>A (p.Ser1549Thr) c.4099T>A (p.Ser1367Thr) c.6013T>A (p.Ser2005Thr) c.5740T>A (p.Ser1914Thr) c.5194T>A (p.Ser1732Thr) c.4921T>A (p.Ser1641Thr) c.4372T>A (p.Ser1458Thr) c.6286T>A (p.Ser2096Thr) c.6010T>A (p.Ser2004Thr) | |
9 | g.115035255T>A | CA466790033 | TNC | c.3825A>T (p.Ala1275=) c.4647A>T (p.Ala1549=) c.2679A>T (p.Ala893=) c.1335A>T (p.Ala445=) c.4694A>T c.5736A>T (p.Ala1912=) c.5190A>T (p.Ala1730=) c.4917A>T (p.Ala1639=) n.318A>T c.1423A>T c.5463A>T (p.Ala1821=) c.4644A>T (p.Ala1548=) c.4098A>T (p.Ala1366=) c.6012A>T (p.Ala2004=) c.5739A>T (p.Ala1913=) c.5193A>T (p.Ala1731=) c.4920A>T (p.Ala1640=) c.4371A>T (p.Ala1457=) c.6285A>T (p.Ala2095=) c.6009A>T (p.Ala2003=) | |
9 | g.115035255T>C | CA466790034 | TNC | c.3825A>G (p.Ala1275=) c.4647A>G (p.Ala1549=) c.2679A>G (p.Ala893=) c.1335A>G (p.Ala445=) c.4694A>G c.5736A>G (p.Ala1912=) c.5190A>G (p.Ala1730=) c.4917A>G (p.Ala1639=) n.318A>G c.1423A>G c.5463A>G (p.Ala1821=) c.4644A>G (p.Ala1548=) c.4098A>G (p.Ala1366=) c.6012A>G (p.Ala2004=) c.5739A>G (p.Ala1913=) c.5193A>G (p.Ala1731=) c.4920A>G (p.Ala1640=) c.4371A>G (p.Ala1457=) c.6285A>G (p.Ala2095=) c.6009A>G (p.Ala2003=) | |
9 | g.115035255T>G | CA466790035 | TNC | c.3825A>C (p.Ala1275=) c.4647A>C (p.Ala1549=) c.2679A>C (p.Ala893=) c.1335A>C (p.Ala445=) c.4694A>C c.5736A>C (p.Ala1912=) c.5190A>C (p.Ala1730=) c.4917A>C (p.Ala1639=) n.318A>C c.1423A>C c.5463A>C (p.Ala1821=) c.4644A>C (p.Ala1548=) c.4098A>C (p.Ala1366=) c.6012A>C (p.Ala2004=) c.5739A>C (p.Ala1913=) c.5193A>C (p.Ala1731=) c.4920A>C (p.Ala1640=) c.4371A>C (p.Ala1457=) c.6285A>C (p.Ala2095=) c.6009A>C (p.Ala2003=) | |
9 | g.115035256G>A | CA374626496 | TNC | c.3824C>T (p.Ala1275Val) c.4646C>T (p.Ala1549Val) c.2678C>T (p.Ala893Val) c.1334C>T (p.Ala445Val) c.4693C>T c.5735C>T (p.Ala1912Val) c.5189C>T (p.Ala1730Val) c.4916C>T (p.Ala1639Val) n.317C>T c.1422C>T c.5462C>T (p.Ala1821Val) c.4643C>T (p.Ala1548Val) c.4097C>T (p.Ala1366Val) c.6011C>T (p.Ala2004Val) c.5738C>T (p.Ala1913Val) c.5192C>T (p.Ala1731Val) c.4919C>T (p.Ala1640Val) c.4370C>T (p.Ala1457Val) c.6284C>T (p.Ala2095Val) c.6008C>T (p.Ala2003Val) | dbSNP gnomAD v4 |
9 | g.115035256G>C | CA374626497 | TNC | c.3824C>G (p.Ala1275Gly) c.4646C>G (p.Ala1549Gly) c.2678C>G (p.Ala893Gly) c.1334C>G (p.Ala445Gly) c.4693C>G c.5735C>G (p.Ala1912Gly) c.5189C>G (p.Ala1730Gly) c.4916C>G (p.Ala1639Gly) n.317C>G c.1422C>G c.5462C>G (p.Ala1821Gly) c.4643C>G (p.Ala1548Gly) c.4097C>G (p.Ala1366Gly) c.6011C>G (p.Ala2004Gly) c.5738C>G (p.Ala1913Gly) c.5192C>G (p.Ala1731Gly) c.4919C>G (p.Ala1640Gly) c.4370C>G (p.Ala1457Gly) c.6284C>G (p.Ala2095Gly) c.6008C>G (p.Ala2003Gly) | |
9 | g.115035256G= | CA1874113744 | TNC | c.3824C= (p.Ala1275=) c.4646C= (p.Ala1549=) c.2678C= (p.Ala893=) c.1334C= (p.Ala445=) c.4693C= c.5735C= (p.Ala1912=) c.5189C= (p.Ala1730=) c.4916C= (p.Ala1639=) n.317C= c.1422C= c.5462C= (p.Ala1821=) c.4643C= (p.Ala1548=) c.4097C= (p.Ala1366=) c.6011C= (p.Ala2004=) c.5738C= (p.Ala1913=) c.5192C= (p.Ala1731=) c.4919C= (p.Ala1640=) c.4370C= (p.Ala1457=) c.6284C= (p.Ala2095=) c.6008C= (p.Ala2003=) | |
9 | g.115035256G>T | CA374626498 | TNC | c.3824C>A (p.Ala1275Glu) c.4646C>A (p.Ala1549Glu) c.2678C>A (p.Ala893Glu) c.1334C>A (p.Ala445Glu) c.4693C>A c.5735C>A (p.Ala1912Glu) c.5189C>A (p.Ala1730Glu) c.4916C>A (p.Ala1639Glu) n.317C>A c.1422C>A c.5462C>A (p.Ala1821Glu) c.4643C>A (p.Ala1548Glu) c.4097C>A (p.Ala1366Glu) c.6011C>A (p.Ala2004Glu) c.5738C>A (p.Ala1913Glu) c.5192C>A (p.Ala1731Glu) c.4919C>A (p.Ala1640Glu) c.4370C>A (p.Ala1457Glu) c.6284C>A (p.Ala2095Glu) c.6008C>A (p.Ala2003Glu) | |
9 | g.115035257C>A | CA374626499 | TNC | c.3823G>T (p.Ala1275Ser) c.4645G>T (p.Ala1549Ser) c.2677G>T (p.Ala893Ser) c.1333G>T (p.Ala445Ser) c.4692G>T c.5734G>T (p.Ala1912Ser) c.5188G>T (p.Ala1730Ser) c.4915G>T (p.Ala1639Ser) n.316G>T c.1421G>T c.5461G>T (p.Ala1821Ser) c.4642G>T (p.Ala1548Ser) c.4096G>T (p.Ala1366Ser) c.6010G>T (p.Ala2004Ser) c.5737G>T (p.Ala1913Ser) c.5191G>T (p.Ala1731Ser) c.4918G>T (p.Ala1640Ser) c.4369G>T (p.Ala1457Ser) c.6283G>T (p.Ala2095Ser) c.6007G>T (p.Ala2003Ser) | gnomAD v4 |
9 | g.115035257C>G | CA374626501 | TNC | c.3823G>C (p.Ala1275Pro) c.4645G>C (p.Ala1549Pro) c.2677G>C (p.Ala893Pro) c.1333G>C (p.Ala445Pro) c.4692G>C c.5734G>C (p.Ala1912Pro) c.5188G>C (p.Ala1730Pro) c.4915G>C (p.Ala1639Pro) n.316G>C c.1421G>C c.5461G>C (p.Ala1821Pro) c.4642G>C (p.Ala1548Pro) c.4096G>C (p.Ala1366Pro) c.6010G>C (p.Ala2004Pro) c.5737G>C (p.Ala1913Pro) c.5191G>C (p.Ala1731Pro) c.4918G>C (p.Ala1640Pro) c.4369G>C (p.Ala1457Pro) c.6283G>C (p.Ala2095Pro) c.6007G>C (p.Ala2003Pro) | |
9 | g.115035257C>T | CA374626500 | TNC | c.3823G>A (p.Ala1275Thr) c.4645G>A (p.Ala1549Thr) c.2677G>A (p.Ala893Thr) c.1333G>A (p.Ala445Thr) c.4692G>A c.5734G>A (p.Ala1912Thr) c.5188G>A (p.Ala1730Thr) c.4915G>A (p.Ala1639Thr) n.316G>A c.1421G>A c.5461G>A (p.Ala1821Thr) c.4642G>A (p.Ala1548Thr) c.4096G>A (p.Ala1366Thr) c.6010G>A (p.Ala2004Thr) c.5737G>A (p.Ala1913Thr) c.5191G>A (p.Ala1731Thr) c.4918G>A (p.Ala1640Thr) c.4369G>A (p.Ala1457Thr) c.6283G>A (p.Ala2095Thr) c.6007G>A (p.Ala2003Thr) | |
9 | g.115035258C>A | CA466790047 | TNC | c.3822G>T (p.Arg1274=) c.4644G>T (p.Arg1548=) c.2676G>T (p.Arg892=) c.1332G>T (p.Arg444=) c.4691G>T c.5733G>T (p.Arg1911=) c.5187G>T (p.Arg1729=) c.4914G>T (p.Arg1638=) n.315G>T c.1420G>T c.5460G>T (p.Arg1820=) c.4641G>T (p.Arg1547=) c.4095G>T (p.Arg1365=) c.6009G>T (p.Arg2003=) c.5736G>T (p.Arg1912=) c.5190G>T (p.Arg1730=) c.4917G>T (p.Arg1639=) c.4368G>T (p.Arg1456=) c.6282G>T (p.Arg2094=) c.6006G>T (p.Arg2002=) | |
9 | g.115035258C= | CA1874113745 | TNC | c.3822G= (p.Arg1274=) c.4644G= (p.Arg1548=) c.2676G= (p.Arg892=) c.1332G= (p.Arg444=) c.4691G= c.5733G= (p.Arg1911=) c.5187G= (p.Arg1729=) c.4914G= (p.Arg1638=) n.315G= c.1420G= c.5460G= (p.Arg1820=) c.4641G= (p.Arg1547=) c.4095G= (p.Arg1365=) c.6009G= (p.Arg2003=) c.5736G= (p.Arg1912=) c.5190G= (p.Arg1730=) c.4917G= (p.Arg1639=) c.4368G= (p.Arg1456=) c.6282G= (p.Arg2094=) c.6006G= (p.Arg2002=) | |
9 | g.115035258C>G | CA466790049 | TNC | c.3822G>C (p.Arg1274=) c.4644G>C (p.Arg1548=) c.2676G>C (p.Arg892=) c.1332G>C (p.Arg444=) c.4691G>C c.5733G>C (p.Arg1911=) c.5187G>C (p.Arg1729=) c.4914G>C (p.Arg1638=) n.315G>C c.1420G>C c.5460G>C (p.Arg1820=) c.4641G>C (p.Arg1547=) c.4095G>C (p.Arg1365=) c.6009G>C (p.Arg2003=) c.5736G>C (p.Arg1912=) c.5190G>C (p.Arg1730=) c.4917G>C (p.Arg1639=) c.4368G>C (p.Arg1456=) c.6282G>C (p.Arg2094=) c.6006G>C (p.Arg2002=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115035258C>T | CA466790050 | TNC | c.3822G>A (p.Arg1274=) c.4644G>A (p.Arg1548=) c.2676G>A (p.Arg892=) c.1332G>A (p.Arg444=) c.4691G>A c.5733G>A (p.Arg1911=) c.5187G>A (p.Arg1729=) c.4914G>A (p.Arg1638=) n.315G>A c.1420G>A c.5460G>A (p.Arg1820=) c.4641G>A (p.Arg1547=) c.4095G>A (p.Arg1365=) c.6009G>A (p.Arg2003=) c.5736G>A (p.Arg1912=) c.5190G>A (p.Arg1730=) c.4917G>A (p.Arg1639=) c.4368G>A (p.Arg1456=) c.6282G>A (p.Arg2094=) c.6006G>A (p.Arg2002=) | |
9 | g.115035259C>A | CA374626502 | TNC | c.3821G>T (p.Arg1274Leu) c.4643G>T (p.Arg1548Leu) c.2675G>T (p.Arg892Leu) c.1331G>T (p.Arg444Leu) c.4690G>T c.5732G>T (p.Arg1911Leu) c.5186G>T (p.Arg1729Leu) c.4913G>T (p.Arg1638Leu) n.314G>T c.1419G>T c.5459G>T (p.Arg1820Leu) c.4640G>T (p.Arg1547Leu) c.4094G>T (p.Arg1365Leu) c.6008G>T (p.Arg2003Leu) c.5735G>T (p.Arg1912Leu) c.5189G>T (p.Arg1730Leu) c.4916G>T (p.Arg1639Leu) c.4367G>T (p.Arg1456Leu) c.6281G>T (p.Arg2094Leu) c.6005G>T (p.Arg2002Leu) | |
9 | g.115035259C= | CA1874113746 | TNC | c.3821G= (p.Arg1274=) c.4643G= (p.Arg1548=) c.2675G= (p.Arg892=) c.1331G= (p.Arg444=) c.4690G= c.5732G= (p.Arg1911=) c.5186G= (p.Arg1729=) c.4913G= (p.Arg1638=) n.314G= c.1419G= c.5459G= (p.Arg1820=) c.4640G= (p.Arg1547=) c.4094G= (p.Arg1365=) c.6008G= (p.Arg2003=) c.5735G= (p.Arg1912=) c.5189G= (p.Arg1730=) c.4916G= (p.Arg1639=) c.4367G= (p.Arg1456=) c.6281G= (p.Arg2094=) c.6005G= (p.Arg2002=) | |
9 | g.115035259C>G | CA374626503 | TNC | c.3821G>C (p.Arg1274Pro) c.4643G>C (p.Arg1548Pro) c.2675G>C (p.Arg892Pro) c.1331G>C (p.Arg444Pro) c.4690G>C c.5732G>C (p.Arg1911Pro) c.5186G>C (p.Arg1729Pro) c.4913G>C (p.Arg1638Pro) n.314G>C c.1419G>C c.5459G>C (p.Arg1820Pro) c.4640G>C (p.Arg1547Pro) c.4094G>C (p.Arg1365Pro) c.6008G>C (p.Arg2003Pro) c.5735G>C (p.Arg1912Pro) c.5189G>C (p.Arg1730Pro) c.4916G>C (p.Arg1639Pro) c.4367G>C (p.Arg1456Pro) c.6281G>C (p.Arg2094Pro) c.6005G>C (p.Arg2002Pro) | |
9 | g.115035259C>T | CA5207547 | TNC | c.3821G>A (p.Arg1274Gln) c.4643G>A (p.Arg1548Gln) c.2675G>A (p.Arg892Gln) c.1331G>A (p.Arg444Gln) c.4690G>A c.5732G>A (p.Arg1911Gln) c.5186G>A (p.Arg1729Gln) c.4913G>A (p.Arg1638Gln) n.314G>A c.1419G>A c.5459G>A (p.Arg1820Gln) c.4640G>A (p.Arg1547Gln) c.4094G>A (p.Arg1365Gln) c.6008G>A (p.Arg2003Gln) c.5735G>A (p.Arg1912Gln) c.5189G>A (p.Arg1730Gln) c.4916G>A (p.Arg1639Gln) c.4367G>A (p.Arg1456Gln) c.6281G>A (p.Arg2094Gln) c.6005G>A (p.Arg2002Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035260G>A | CA5207549 | TNC | c.3820C>T (p.Arg1274Trp) c.4642C>T (p.Arg1548Trp) c.2674C>T (p.Arg892Trp) c.1330C>T (p.Arg444Trp) c.4689C>T c.5731C>T (p.Arg1911Trp) c.5185C>T (p.Arg1729Trp) c.4912C>T (p.Arg1638Trp) n.313C>T c.1418C>T c.5458C>T (p.Arg1820Trp) c.4639C>T (p.Arg1547Trp) c.4093C>T (p.Arg1365Trp) c.6007C>T (p.Arg2003Trp) c.5734C>T (p.Arg1912Trp) c.5188C>T (p.Arg1730Trp) c.4915C>T (p.Arg1639Trp) c.4366C>T (p.Arg1456Trp) c.6280C>T (p.Arg2094Trp) c.6004C>T (p.Arg2002Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035260G>C | CA198682427 | TNC | c.3820C>G (p.Arg1274Gly) c.4642C>G (p.Arg1548Gly) c.2674C>G (p.Arg892Gly) c.1330C>G (p.Arg444Gly) c.4689C>G c.5731C>G (p.Arg1911Gly) c.5185C>G (p.Arg1729Gly) c.4912C>G (p.Arg1638Gly) n.313C>G c.1418C>G c.5458C>G (p.Arg1820Gly) c.4639C>G (p.Arg1547Gly) c.4093C>G (p.Arg1365Gly) c.6007C>G (p.Arg2003Gly) c.5734C>G (p.Arg1912Gly) c.5188C>G (p.Arg1730Gly) c.4915C>G (p.Arg1639Gly) c.4366C>G (p.Arg1456Gly) c.6280C>G (p.Arg2094Gly) c.6004C>G (p.Arg2002Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115035260G= | CA1874113747 | TNC | c.3820C= (p.Arg1274=) c.4642C= (p.Arg1548=) c.2674C= (p.Arg892=) c.1330C= (p.Arg444=) c.4689C= c.5731C= (p.Arg1911=) c.5185C= (p.Arg1729=) c.4912C= (p.Arg1638=) n.313C= c.1418C= c.5458C= (p.Arg1820=) c.4639C= (p.Arg1547=) c.4093C= (p.Arg1365=) c.6007C= (p.Arg2003=) c.5734C= (p.Arg1912=) c.5188C= (p.Arg1730=) c.4915C= (p.Arg1639=) c.4366C= (p.Arg1456=) c.6280C= (p.Arg2094=) c.6004C= (p.Arg2002=) | |
9 | g.115035260G>T | CA5207548 | TNC | c.3820C>A (p.Arg1274=) c.4642C>A (p.Arg1548=) c.2674C>A (p.Arg892=) c.1330C>A (p.Arg444=) c.4689C>A c.5731C>A (p.Arg1911=) c.5185C>A (p.Arg1729=) c.4912C>A (p.Arg1638=) n.313C>A c.1418C>A c.5458C>A (p.Arg1820=) c.4639C>A (p.Arg1547=) c.4093C>A (p.Arg1365=) c.6007C>A (p.Arg2003=) c.5734C>A (p.Arg1912=) c.5188C>A (p.Arg1730=) c.4915C>A (p.Arg1639=) c.4366C>A (p.Arg1456=) c.6280C>A (p.Arg2094=) c.6004C>A (p.Arg2002=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035266dup | CA590154615 | TNC | c.3820dup (p.Arg1274ProfsTer12) c.4642dup (p.Arg1548ProfsTer12) c.2674dup (p.Arg892ProfsTer12) c.1330dup (p.Arg444ProfsTer12) c.4689dup c.5731dup (p.Arg1911ProfsTer12) c.5185dup (p.Arg1729ProfsTer12) c.4912dup (p.Arg1638ProfsTer12) n.313dup c.1418dup c.5458dup (p.Arg1820ProfsTer12) c.4639dup (p.Arg1547ProfsTer12) c.4093dup (p.Arg1365ProfsTer12) c.6007dup (p.Arg2003ProfsTer12) c.5734dup (p.Arg1912ProfsTer12) c.5188dup (p.Arg1730ProfsTer12) c.4915dup (p.Arg1639ProfsTer12) c.4366dup (p.Arg1456ProfsTer12) c.6280dup (p.Arg2094ProfsTer12) c.6004dup (p.Arg2002ProfsTer12) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.115035266del | CA466790061 | TNC | c.3820del (p.Arg1274GlyfsTer?) c.4642del (p.Arg1548GlyfsTer?) c.2674del (p.Arg892GlyfsTer?) c.1330del (p.Arg444GlyfsTer?) c.4689del c.5731del (p.Arg1911GlyfsTer?) c.5185del (p.Arg1729GlyfsTer?) c.4912del (p.Arg1638GlyfsTer?) n.313del c.1418del c.5458del (p.Arg1820GlyfsTer?) c.4639del (p.Arg1547GlyfsTer?) c.4093del (p.Arg1365GlyfsTer?) c.6007del (p.Arg2003GlyfsTer?) c.5734del (p.Arg1912GlyfsTer?) c.5188del (p.Arg1730GlyfsTer?) c.4915del (p.Arg1639GlyfsTer?) c.4366del (p.Arg1456GlyfsTer?) c.6280del (p.Arg2094GlyfsTer?) c.6004del (p.Arg2002GlyfsTer?) | gnomAD v2 gnomAD v4 COSMIC |
9 | g.115035261G>A | CA5207550 | TNC | c.3819C>T (p.Pro1273=) c.4641C>T (p.Pro1547=) c.2673C>T (p.Pro891=) c.1329C>T (p.Pro443=) c.4688C>T c.5730C>T (p.Pro1910=) c.5184C>T (p.Pro1728=) c.4911C>T (p.Pro1637=) n.312C>T c.1417C>T c.5457C>T (p.Pro1819=) c.4638C>T (p.Pro1546=) c.4092C>T (p.Pro1364=) c.6006C>T (p.Pro2002=) c.5733C>T (p.Pro1911=) c.5187C>T (p.Pro1729=) c.4914C>T (p.Pro1638=) c.4365C>T (p.Pro1455=) c.6279C>T (p.Pro2093=) c.6003C>T (p.Pro2001=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115035261G>C | CA466790072 | TNC | c.3819C>G (p.Pro1273=) c.4641C>G (p.Pro1547=) c.2673C>G (p.Pro891=) c.1329C>G (p.Pro443=) c.4688C>G c.5730C>G (p.Pro1910=) c.5184C>G (p.Pro1728=) c.4911C>G (p.Pro1637=) n.312C>G c.1417C>G c.5457C>G (p.Pro1819=) c.4638C>G (p.Pro1546=) c.4092C>G (p.Pro1364=) c.6006C>G (p.Pro2002=) c.5733C>G (p.Pro1911=) c.5187C>G (p.Pro1729=) c.4914C>G (p.Pro1638=) c.4365C>G (p.Pro1455=) c.6279C>G (p.Pro2093=) c.6003C>G (p.Pro2001=) | |
9 | g.115035261G= | CA1874113748 | TNC | c.3819C= (p.Pro1273=) c.4641C= (p.Pro1547=) c.2673C= (p.Pro891=) c.1329C= (p.Pro443=) c.4688C= c.5730C= (p.Pro1910=) c.5184C= (p.Pro1728=) c.4911C= (p.Pro1637=) n.312C= c.1417C= c.5457C= (p.Pro1819=) c.4638C= (p.Pro1546=) c.4092C= (p.Pro1364=) c.6006C= (p.Pro2002=) c.5733C= (p.Pro1911=) c.5187C= (p.Pro1729=) c.4914C= (p.Pro1638=) c.4365C= (p.Pro1455=) c.6279C= (p.Pro2093=) c.6003C= (p.Pro2001=) | |
9 | g.115035261G>T | CA466790075 | TNC | c.3819C>A (p.Pro1273=) c.4641C>A (p.Pro1547=) c.2673C>A (p.Pro891=) c.1329C>A (p.Pro443=) c.4688C>A c.5730C>A (p.Pro1910=) c.5184C>A (p.Pro1728=) c.4911C>A (p.Pro1637=) n.312C>A c.1417C>A c.5457C>A (p.Pro1819=) c.4638C>A (p.Pro1546=) c.4092C>A (p.Pro1364=) c.6006C>A (p.Pro2002=) c.5733C>A (p.Pro1911=) c.5187C>A (p.Pro1729=) c.4914C>A (p.Pro1638=) c.4365C>A (p.Pro1455=) c.6279C>A (p.Pro2093=) c.6003C>A (p.Pro2001=) | |
9 | g.115035262G>A | CA5207551 | TNC | c.3818C>T (p.Pro1273Leu) c.4640C>T (p.Pro1547Leu) c.2672C>T (p.Pro891Leu) c.1328C>T (p.Pro443Leu) c.4687C>T c.5729C>T (p.Pro1910Leu) c.5183C>T (p.Pro1728Leu) c.4910C>T (p.Pro1637Leu) n.311C>T c.1416C>T c.5456C>T (p.Pro1819Leu) c.4637C>T (p.Pro1546Leu) c.4091C>T (p.Pro1364Leu) c.6005C>T (p.Pro2002Leu) c.5732C>T (p.Pro1911Leu) c.5186C>T (p.Pro1729Leu) c.4913C>T (p.Pro1638Leu) c.4364C>T (p.Pro1455Leu) c.6278C>T (p.Pro2093Leu) c.6002C>T (p.Pro2001Leu) | dbSNP ExAC gnomAD v2 |
9 | g.115035262G>C | CA5207552 | TNC | c.3818C>G (p.Pro1273Arg) c.4640C>G (p.Pro1547Arg) c.2672C>G (p.Pro891Arg) c.1328C>G (p.Pro443Arg) c.4687C>G c.5729C>G (p.Pro1910Arg) c.5183C>G (p.Pro1728Arg) c.4910C>G (p.Pro1637Arg) n.311C>G c.1416C>G c.5456C>G (p.Pro1819Arg) c.4637C>G (p.Pro1546Arg) c.4091C>G (p.Pro1364Arg) c.6005C>G (p.Pro2002Arg) c.5732C>G (p.Pro1911Arg) c.5186C>G (p.Pro1729Arg) c.4913C>G (p.Pro1638Arg) c.4364C>G (p.Pro1455Arg) c.6278C>G (p.Pro2093Arg) c.6002C>G (p.Pro2001Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035262G= | CA1874113749 | TNC | c.3818C= (p.Pro1273=) c.4640C= (p.Pro1547=) c.2672C= (p.Pro891=) c.1328C= (p.Pro443=) c.4687C= c.5729C= (p.Pro1910=) c.5183C= (p.Pro1728=) c.4910C= (p.Pro1637=) n.311C= c.1416C= c.5456C= (p.Pro1819=) c.4637C= (p.Pro1546=) c.4091C= (p.Pro1364=) c.6005C= (p.Pro2002=) c.5732C= (p.Pro1911=) c.5186C= (p.Pro1729=) c.4913C= (p.Pro1638=) c.4364C= (p.Pro1455=) c.6278C= (p.Pro2093=) c.6002C= (p.Pro2001=) | |
9 | g.115035262G>T | CA374626504 | TNC | c.3818C>A (p.Pro1273His) c.4640C>A (p.Pro1547His) c.2672C>A (p.Pro891His) c.1328C>A (p.Pro443His) c.4687C>A c.5729C>A (p.Pro1910His) c.5183C>A (p.Pro1728His) c.4910C>A (p.Pro1637His) n.311C>A c.1416C>A c.5456C>A (p.Pro1819His) c.4637C>A (p.Pro1546His) c.4091C>A (p.Pro1364His) c.6005C>A (p.Pro2002His) c.5732C>A (p.Pro1911His) c.5186C>A (p.Pro1729His) c.4913C>A (p.Pro1638His) c.4364C>A (p.Pro1455His) c.6278C>A (p.Pro2093His) c.6002C>A (p.Pro2001His) | |
9 | g.115035263G>A | CA374626506 | TNC | c.3817C>T (p.Pro1273Ser) c.4639C>T (p.Pro1547Ser) c.2671C>T (p.Pro891Ser) c.1327C>T (p.Pro443Ser) c.4686C>T c.5728C>T (p.Pro1910Ser) c.5182C>T (p.Pro1728Ser) c.4909C>T (p.Pro1637Ser) n.310C>T c.1415C>T c.5455C>T (p.Pro1819Ser) c.4636C>T (p.Pro1546Ser) c.4090C>T (p.Pro1364Ser) c.6004C>T (p.Pro2002Ser) c.5731C>T (p.Pro1911Ser) c.5185C>T (p.Pro1729Ser) c.4912C>T (p.Pro1638Ser) c.4363C>T (p.Pro1455Ser) c.6277C>T (p.Pro2093Ser) c.6001C>T (p.Pro2001Ser) | gnomAD v4 |
9 | g.115035263G>C | CA374626507 | TNC | c.3817C>G (p.Pro1273Ala) c.4639C>G (p.Pro1547Ala) c.2671C>G (p.Pro891Ala) c.1327C>G (p.Pro443Ala) c.4686C>G c.5728C>G (p.Pro1910Ala) c.5182C>G (p.Pro1728Ala) c.4909C>G (p.Pro1637Ala) n.310C>G c.1415C>G c.5455C>G (p.Pro1819Ala) c.4636C>G (p.Pro1546Ala) c.4090C>G (p.Pro1364Ala) c.6004C>G (p.Pro2002Ala) c.5731C>G (p.Pro1911Ala) c.5185C>G (p.Pro1729Ala) c.4912C>G (p.Pro1638Ala) c.4363C>G (p.Pro1455Ala) c.6277C>G (p.Pro2093Ala) c.6001C>G (p.Pro2001Ala) | |
9 | g.115035263G>T | CA374626505 | TNC | c.3817C>A (p.Pro1273Thr) c.4639C>A (p.Pro1547Thr) c.2671C>A (p.Pro891Thr) c.1327C>A (p.Pro443Thr) c.4686C>A c.5728C>A (p.Pro1910Thr) c.5182C>A (p.Pro1728Thr) c.4909C>A (p.Pro1637Thr) n.310C>A c.1415C>A c.5455C>A (p.Pro1819Thr) c.4636C>A (p.Pro1546Thr) c.4090C>A (p.Pro1364Thr) c.6004C>A (p.Pro2002Thr) c.5731C>A (p.Pro1911Thr) c.5185C>A (p.Pro1729Thr) c.4912C>A (p.Pro1638Thr) c.4363C>A (p.Pro1455Thr) c.6277C>A (p.Pro2093Thr) c.6001C>A (p.Pro2001Thr) | |
9 | g.115035264G>A | CA466790091 | TNC | c.3816C>T (p.Pro1272=) c.4638C>T (p.Pro1546=) c.2670C>T (p.Pro890=) c.1326C>T (p.Pro442=) c.4685C>T c.5727C>T (p.Pro1909=) c.5181C>T (p.Pro1727=) c.4908C>T (p.Pro1636=) n.309C>T c.1414C>T c.5454C>T (p.Pro1818=) c.4635C>T (p.Pro1545=) c.4089C>T (p.Pro1363=) c.6003C>T (p.Pro2001=) c.5730C>T (p.Pro1910=) c.5184C>T (p.Pro1728=) c.4911C>T (p.Pro1637=) c.4362C>T (p.Pro1454=) c.6276C>T (p.Pro2092=) c.6000C>T (p.Pro2000=) | |
9 | g.115035264G>C | CA466790095 | TNC | c.3816C>G (p.Pro1272=) c.4638C>G (p.Pro1546=) c.2670C>G (p.Pro890=) c.1326C>G (p.Pro442=) c.4685C>G c.5727C>G (p.Pro1909=) c.5181C>G (p.Pro1727=) c.4908C>G (p.Pro1636=) n.309C>G c.1414C>G c.5454C>G (p.Pro1818=) c.4635C>G (p.Pro1545=) c.4089C>G (p.Pro1363=) c.6003C>G (p.Pro2001=) c.5730C>G (p.Pro1910=) c.5184C>G (p.Pro1728=) c.4911C>G (p.Pro1637=) c.4362C>G (p.Pro1454=) c.6276C>G (p.Pro2092=) c.6000C>G (p.Pro2000=) | gnomAD v4 |
9 | g.115035264G= | CA1874113750 | TNC | c.3816C= (p.Pro1272=) c.4638C= (p.Pro1546=) c.2670C= (p.Pro890=) c.1326C= (p.Pro442=) c.4685C= c.5727C= (p.Pro1909=) c.5181C= (p.Pro1727=) c.4908C= (p.Pro1636=) n.309C= c.1414C= c.5454C= (p.Pro1818=) c.4635C= (p.Pro1545=) c.4089C= (p.Pro1363=) c.6003C= (p.Pro2001=) c.5730C= (p.Pro1910=) c.5184C= (p.Pro1728=) c.4911C= (p.Pro1637=) c.4362C= (p.Pro1454=) c.6276C= (p.Pro2092=) c.6000C= (p.Pro2000=) | |
9 | g.115035264G>T | CA5207553 | TNC | c.3816C>A (p.Pro1272=) c.4638C>A (p.Pro1546=) c.2670C>A (p.Pro890=) c.1326C>A (p.Pro442=) c.4685C>A c.5727C>A (p.Pro1909=) c.5181C>A (p.Pro1727=) c.4908C>A (p.Pro1636=) n.309C>A c.1414C>A c.5454C>A (p.Pro1818=) c.4635C>A (p.Pro1545=) c.4089C>A (p.Pro1363=) c.6003C>A (p.Pro2001=) c.5730C>A (p.Pro1910=) c.5184C>A (p.Pro1728=) c.4911C>A (p.Pro1637=) c.4362C>A (p.Pro1454=) c.6276C>A (p.Pro2092=) c.6000C>A (p.Pro2000=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035265G>A | CA5207554 | TNC | c.3815C>T (p.Pro1272Leu) c.4637C>T (p.Pro1546Leu) c.2669C>T (p.Pro890Leu) c.1325C>T (p.Pro442Leu) c.4684C>T c.5726C>T (p.Pro1909Leu) c.5180C>T (p.Pro1727Leu) c.4907C>T (p.Pro1636Leu) n.308C>T c.1413C>T c.5453C>T (p.Pro1818Leu) c.4634C>T (p.Pro1545Leu) c.4088C>T (p.Pro1363Leu) c.6002C>T (p.Pro2001Leu) c.5729C>T (p.Pro1910Leu) c.5183C>T (p.Pro1728Leu) c.4910C>T (p.Pro1637Leu) c.4361C>T (p.Pro1454Leu) c.6275C>T (p.Pro2092Leu) c.5999C>T (p.Pro2000Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035265G>C | CA374626508 | TNC | c.3815C>G (p.Pro1272Arg) c.4637C>G (p.Pro1546Arg) c.2669C>G (p.Pro890Arg) c.1325C>G (p.Pro442Arg) c.4684C>G c.5726C>G (p.Pro1909Arg) c.5180C>G (p.Pro1727Arg) c.4907C>G (p.Pro1636Arg) n.308C>G c.1413C>G c.5453C>G (p.Pro1818Arg) c.4634C>G (p.Pro1545Arg) c.4088C>G (p.Pro1363Arg) c.6002C>G (p.Pro2001Arg) c.5729C>G (p.Pro1910Arg) c.5183C>G (p.Pro1728Arg) c.4910C>G (p.Pro1637Arg) c.4361C>G (p.Pro1454Arg) c.6275C>G (p.Pro2092Arg) c.5999C>G (p.Pro2000Arg) | |
9 | g.115035265G= | CA1874113751 | TNC | c.3815C= (p.Pro1272=) c.4637C= (p.Pro1546=) c.2669C= (p.Pro890=) c.1325C= (p.Pro442=) c.4684C= c.5726C= (p.Pro1909=) c.5180C= (p.Pro1727=) c.4907C= (p.Pro1636=) n.308C= c.1413C= c.5453C= (p.Pro1818=) c.4634C= (p.Pro1545=) c.4088C= (p.Pro1363=) c.6002C= (p.Pro2001=) c.5729C= (p.Pro1910=) c.5183C= (p.Pro1728=) c.4910C= (p.Pro1637=) c.4361C= (p.Pro1454=) c.6275C= (p.Pro2092=) c.5999C= (p.Pro2000=) | |
9 | g.115035265G>T | CA374626509 | TNC | c.3815C>A (p.Pro1272His) c.4637C>A (p.Pro1546His) c.2669C>A (p.Pro890His) c.1325C>A (p.Pro442His) c.4684C>A c.5726C>A (p.Pro1909His) c.5180C>A (p.Pro1727His) c.4907C>A (p.Pro1636His) n.308C>A c.1413C>A c.5453C>A (p.Pro1818His) c.4634C>A (p.Pro1545His) c.4088C>A (p.Pro1363His) c.6002C>A (p.Pro2001His) c.5729C>A (p.Pro1910His) c.5183C>A (p.Pro1728His) c.4910C>A (p.Pro1637His) c.4361C>A (p.Pro1454His) c.6275C>A (p.Pro2092His) c.5999C>A (p.Pro2000His) | ClinVar dbSNP |
9 | g.115035266G>A | CA374626510 | TNC | c.3814C>T (p.Pro1272Ser) c.4636C>T (p.Pro1546Ser) c.2668C>T (p.Pro890Ser) c.1324C>T (p.Pro442Ser) c.4683C>T c.5725C>T (p.Pro1909Ser) c.5179C>T (p.Pro1727Ser) c.4906C>T (p.Pro1636Ser) n.307C>T c.1412C>T c.5452C>T (p.Pro1818Ser) c.4633C>T (p.Pro1545Ser) c.4087C>T (p.Pro1363Ser) c.6001C>T (p.Pro2001Ser) c.5728C>T (p.Pro1910Ser) c.5182C>T (p.Pro1728Ser) c.4909C>T (p.Pro1637Ser) c.4360C>T (p.Pro1454Ser) c.6274C>T (p.Pro2092Ser) c.5998C>T (p.Pro2000Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.115035266G>C | CA374626511 | TNC | c.3814C>G (p.Pro1272Ala) c.4636C>G (p.Pro1546Ala) c.2668C>G (p.Pro890Ala) c.1324C>G (p.Pro442Ala) c.4683C>G c.5725C>G (p.Pro1909Ala) c.5179C>G (p.Pro1727Ala) c.4906C>G (p.Pro1636Ala) n.307C>G c.1412C>G c.5452C>G (p.Pro1818Ala) c.4633C>G (p.Pro1545Ala) c.4087C>G (p.Pro1363Ala) c.6001C>G (p.Pro2001Ala) c.5728C>G (p.Pro1910Ala) c.5182C>G (p.Pro1728Ala) c.4909C>G (p.Pro1637Ala) c.4360C>G (p.Pro1454Ala) c.6274C>G (p.Pro2092Ala) c.5998C>G (p.Pro2000Ala) | |
9 | g.115035266G= | CA1874113752 | TNC | c.3814C= (p.Pro1272=) c.4636C= (p.Pro1546=) c.2668C= (p.Pro890=) c.1324C= (p.Pro442=) c.4683C= c.5725C= (p.Pro1909=) c.5179C= (p.Pro1727=) c.4906C= (p.Pro1636=) n.307C= c.1412C= c.5452C= (p.Pro1818=) c.4633C= (p.Pro1545=) c.4087C= (p.Pro1363=) c.6001C= (p.Pro2001=) c.5728C= (p.Pro1910=) c.5182C= (p.Pro1728=) c.4909C= (p.Pro1637=) c.4360C= (p.Pro1454=) c.6274C= (p.Pro2092=) c.5998C= (p.Pro2000=) | |
9 | g.115035266G>T | CA374626512 | TNC | c.3814C>A (p.Pro1272Thr) c.4636C>A (p.Pro1546Thr) c.2668C>A (p.Pro890Thr) c.1324C>A (p.Pro442Thr) c.4683C>A c.5725C>A (p.Pro1909Thr) c.5179C>A (p.Pro1727Thr) c.4906C>A (p.Pro1636Thr) n.307C>A c.1412C>A c.5452C>A (p.Pro1818Thr) c.4633C>A (p.Pro1545Thr) c.4087C>A (p.Pro1363Thr) c.6001C>A (p.Pro2001Thr) c.5728C>A (p.Pro1910Thr) c.5182C>A (p.Pro1728Thr) c.4909C>A (p.Pro1637Thr) c.4360C>A (p.Pro1454Thr) c.6274C>A (p.Pro2092Thr) c.5998C>A (p.Pro2000Thr) | gnomAD v4 |
9 | g.115035267T>A | CA5207555 | TNC | c.3813A>T (p.Arg1271=) c.4635A>T (p.Arg1545=) c.2667A>T (p.Arg889=) c.1323A>T (p.Arg441=) c.4682A>T c.5724A>T (p.Arg1908=) c.5178A>T (p.Arg1726=) c.4905A>T (p.Arg1635=) n.306A>T c.1411A>T c.5451A>T (p.Arg1817=) c.4632A>T (p.Arg1544=) c.4086A>T (p.Arg1362=) c.6000A>T (p.Arg2000=) c.5727A>T (p.Arg1909=) c.5181A>T (p.Arg1727=) c.4908A>T (p.Arg1636=) c.4359A>T (p.Arg1453=) c.6273A>T (p.Arg2091=) c.5997A>T (p.Arg1999=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115035267T>C | CA466790110 | TNC | c.3813A>G (p.Arg1271=) c.4635A>G (p.Arg1545=) c.2667A>G (p.Arg889=) c.1323A>G (p.Arg441=) c.4682A>G c.5724A>G (p.Arg1908=) c.5178A>G (p.Arg1726=) c.4905A>G (p.Arg1635=) n.306A>G c.1411A>G c.5451A>G (p.Arg1817=) c.4632A>G (p.Arg1544=) c.4086A>G (p.Arg1362=) c.6000A>G (p.Arg2000=) c.5727A>G (p.Arg1909=) c.5181A>G (p.Arg1727=) c.4908A>G (p.Arg1636=) c.4359A>G (p.Arg1453=) c.6273A>G (p.Arg2091=) c.5997A>G (p.Arg1999=) | |
9 | g.115035267T>G | CA466790112 | TNC | c.3813A>C (p.Arg1271=) c.4635A>C (p.Arg1545=) c.2667A>C (p.Arg889=) c.1323A>C (p.Arg441=) c.4682A>C c.5724A>C (p.Arg1908=) c.5178A>C (p.Arg1726=) c.4905A>C (p.Arg1635=) n.306A>C c.1411A>C c.5451A>C (p.Arg1817=) c.4632A>C (p.Arg1544=) c.4086A>C (p.Arg1362=) c.6000A>C (p.Arg2000=) c.5727A>C (p.Arg1909=) c.5181A>C (p.Arg1727=) c.4908A>C (p.Arg1636=) c.4359A>C (p.Arg1453=) c.6273A>C (p.Arg2091=) c.5997A>C (p.Arg1999=) | |
9 | g.115035267T= | CA1874113753 | TNC | c.3813A= (p.Arg1271=) c.4635A= (p.Arg1545=) c.2667A= (p.Arg889=) c.1323A= (p.Arg441=) c.4682A= c.5724A= (p.Arg1908=) c.5178A= (p.Arg1726=) c.4905A= (p.Arg1635=) n.306A= c.1411A= c.5451A= (p.Arg1817=) c.4632A= (p.Arg1544=) c.4086A= (p.Arg1362=) c.6000A= (p.Arg2000=) c.5727A= (p.Arg1909=) c.5181A= (p.Arg1727=) c.4908A= (p.Arg1636=) c.4359A= (p.Arg1453=) c.6273A= (p.Arg2091=) c.5997A= (p.Arg1999=) | |
9 | g.115035268C>A | CA374626513 | TNC | c.3812G>T (p.Arg1271Leu) c.4634G>T (p.Arg1545Leu) c.2666G>T (p.Arg889Leu) c.1322G>T (p.Arg441Leu) c.4681G>T c.5723G>T (p.Arg1908Leu) c.5177G>T (p.Arg1726Leu) c.4904G>T (p.Arg1635Leu) n.305G>T c.1410G>T c.5450G>T (p.Arg1817Leu) c.4631G>T (p.Arg1544Leu) c.4085G>T (p.Arg1362Leu) c.5999G>T (p.Arg2000Leu) c.5726G>T (p.Arg1909Leu) c.5180G>T (p.Arg1727Leu) c.4907G>T (p.Arg1636Leu) c.4358G>T (p.Arg1453Leu) c.6272G>T (p.Arg2091Leu) c.5996G>T (p.Arg1999Leu) | dbSNP |
9 | g.115035268C= | CA1874113754 | TNC | c.3812G= (p.Arg1271=) c.4634G= (p.Arg1545=) c.2666G= (p.Arg889=) c.1322G= (p.Arg441=) c.4681G= c.5723G= (p.Arg1908=) c.5177G= (p.Arg1726=) c.4904G= (p.Arg1635=) n.305G= c.1410G= c.5450G= (p.Arg1817=) c.4631G= (p.Arg1544=) c.4085G= (p.Arg1362=) c.5999G= (p.Arg2000=) c.5726G= (p.Arg1909=) c.5180G= (p.Arg1727=) c.4907G= (p.Arg1636=) c.4358G= (p.Arg1453=) c.6272G= (p.Arg2091=) c.5996G= (p.Arg1999=) | |
9 | g.115035268C>G | CA374626514 | TNC | c.3812G>C (p.Arg1271Pro) c.4634G>C (p.Arg1545Pro) c.2666G>C (p.Arg889Pro) c.1322G>C (p.Arg441Pro) c.4681G>C c.5723G>C (p.Arg1908Pro) c.5177G>C (p.Arg1726Pro) c.4904G>C (p.Arg1635Pro) n.305G>C c.1410G>C c.5450G>C (p.Arg1817Pro) c.4631G>C (p.Arg1544Pro) c.4085G>C (p.Arg1362Pro) c.5999G>C (p.Arg2000Pro) c.5726G>C (p.Arg1909Pro) c.5180G>C (p.Arg1727Pro) c.4907G>C (p.Arg1636Pro) c.4358G>C (p.Arg1453Pro) c.6272G>C (p.Arg2091Pro) c.5996G>C (p.Arg1999Pro) | |
9 | g.115035268C>T | CA198682450 | TNC | c.3812G>A (p.Arg1271Gln) c.4634G>A (p.Arg1545Gln) c.2666G>A (p.Arg889Gln) c.1322G>A (p.Arg441Gln) c.4681G>A c.5723G>A (p.Arg1908Gln) c.5177G>A (p.Arg1726Gln) c.4904G>A (p.Arg1635Gln) n.305G>A c.1410G>A c.5450G>A (p.Arg1817Gln) c.4631G>A (p.Arg1544Gln) c.4085G>A (p.Arg1362Gln) c.5999G>A (p.Arg2000Gln) c.5726G>A (p.Arg1909Gln) c.5180G>A (p.Arg1727Gln) c.4907G>A (p.Arg1636Gln) c.4358G>A (p.Arg1453Gln) c.6272G>A (p.Arg2091Gln) c.5996G>A (p.Arg1999Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035269G>A | CA198682454 | TNC | c.3811C>T (p.Arg1271Ter) c.4633C>T (p.Arg1545Ter) c.2665C>T (p.Arg889Ter) c.1321C>T (p.Arg441Ter) c.4680C>T c.5722C>T (p.Arg1908Ter) c.5176C>T (p.Arg1726Ter) c.4903C>T (p.Arg1635Ter) n.304C>T c.1409C>T c.5449C>T (p.Arg1817Ter) c.4630C>T (p.Arg1544Ter) c.4084C>T (p.Arg1362Ter) c.5998C>T (p.Arg2000Ter) c.5725C>T (p.Arg1909Ter) c.5179C>T (p.Arg1727Ter) c.4906C>T (p.Arg1636Ter) c.4357C>T (p.Arg1453Ter) c.6271C>T (p.Arg2091Ter) c.5995C>T (p.Arg1999Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.115035269G>C | CA374626515 | TNC | c.3811C>G (p.Arg1271Gly) c.4633C>G (p.Arg1545Gly) c.2665C>G (p.Arg889Gly) c.1321C>G (p.Arg441Gly) c.4680C>G c.5722C>G (p.Arg1908Gly) c.5176C>G (p.Arg1726Gly) c.4903C>G (p.Arg1635Gly) n.304C>G c.1409C>G c.5449C>G (p.Arg1817Gly) c.4630C>G (p.Arg1544Gly) c.4084C>G (p.Arg1362Gly) c.5998C>G (p.Arg2000Gly) c.5725C>G (p.Arg1909Gly) c.5179C>G (p.Arg1727Gly) c.4906C>G (p.Arg1636Gly) c.4357C>G (p.Arg1453Gly) c.6271C>G (p.Arg2091Gly) c.5995C>G (p.Arg1999Gly) | |
9 | g.115035269G= | CA1874113755 | TNC | c.3811C= (p.Arg1271=) c.4633C= (p.Arg1545=) c.2665C= (p.Arg889=) c.1321C= (p.Arg441=) c.4680C= c.5722C= (p.Arg1908=) c.5176C= (p.Arg1726=) c.4903C= (p.Arg1635=) n.304C= c.1409C= c.5449C= (p.Arg1817=) c.4630C= (p.Arg1544=) c.4084C= (p.Arg1362=) c.5998C= (p.Arg2000=) c.5725C= (p.Arg1909=) c.5179C= (p.Arg1727=) c.4906C= (p.Arg1636=) c.4357C= (p.Arg1453=) c.6271C= (p.Arg2091=) c.5995C= (p.Arg1999=) | |
9 | g.115035269G>T | CA5207556 | TNC | c.3811C>A (p.Arg1271=) c.4633C>A (p.Arg1545=) c.2665C>A (p.Arg889=) c.1321C>A (p.Arg441=) c.4680C>A c.5722C>A (p.Arg1908=) c.5176C>A (p.Arg1726=) c.4903C>A (p.Arg1635=) n.304C>A c.1409C>A c.5449C>A (p.Arg1817=) c.4630C>A (p.Arg1544=) c.4084C>A (p.Arg1362=) c.5998C>A (p.Arg2000=) c.5725C>A (p.Arg1909=) c.5179C>A (p.Arg1727=) c.4906C>A (p.Arg1636=) c.4357C>A (p.Arg1453=) c.6271C>A (p.Arg2091=) c.5995C>A (p.Arg1999=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035270C>A | CA374626516 | TNC | c.3810G>T (p.Trp1270Cys) c.4632G>T (p.Trp1544Cys) c.2664G>T (p.Trp888Cys) c.1320G>T (p.Trp440Cys) c.4679G>T c.5721G>T (p.Trp1907Cys) c.5175G>T (p.Trp1725Cys) c.4902G>T (p.Trp1634Cys) n.303G>T c.1408G>T c.5448G>T (p.Trp1816Cys) c.4629G>T (p.Trp1543Cys) c.4083G>T (p.Trp1361Cys) c.5997G>T (p.Trp1999Cys) c.5724G>T (p.Trp1908Cys) c.5178G>T (p.Trp1726Cys) c.4905G>T (p.Trp1635Cys) c.4356G>T (p.Trp1452Cys) c.6270G>T (p.Trp2090Cys) c.5994G>T (p.Trp1998Cys) | |
9 | g.115035270C>G | CA374626518 | TNC | c.3810G>C (p.Trp1270Cys) c.4632G>C (p.Trp1544Cys) c.2664G>C (p.Trp888Cys) c.1320G>C (p.Trp440Cys) c.4679G>C c.5721G>C (p.Trp1907Cys) c.5175G>C (p.Trp1725Cys) c.4902G>C (p.Trp1634Cys) n.303G>C c.1408G>C c.5448G>C (p.Trp1816Cys) c.4629G>C (p.Trp1543Cys) c.4083G>C (p.Trp1361Cys) c.5997G>C (p.Trp1999Cys) c.5724G>C (p.Trp1908Cys) c.5178G>C (p.Trp1726Cys) c.4905G>C (p.Trp1635Cys) c.4356G>C (p.Trp1452Cys) c.6270G>C (p.Trp2090Cys) c.5994G>C (p.Trp1998Cys) | |
9 | g.115035270C>T | CA374626517 | TNC | c.3810G>A (p.Trp1270Ter) c.4632G>A (p.Trp1544Ter) c.2664G>A (p.Trp888Ter) c.1320G>A (p.Trp440Ter) c.4679G>A c.5721G>A (p.Trp1907Ter) c.5175G>A (p.Trp1725Ter) c.4902G>A (p.Trp1634Ter) n.303G>A c.1408G>A c.5448G>A (p.Trp1816Ter) c.4629G>A (p.Trp1543Ter) c.4083G>A (p.Trp1361Ter) c.5997G>A (p.Trp1999Ter) c.5724G>A (p.Trp1908Ter) c.5178G>A (p.Trp1726Ter) c.4905G>A (p.Trp1635Ter) c.4356G>A (p.Trp1452Ter) c.6270G>A (p.Trp2090Ter) c.5994G>A (p.Trp1998Ter) | |
9 | g.115035271C>A | CA374626519 | TNC | c.3809G>T (p.Trp1270Leu) c.4631G>T (p.Trp1544Leu) c.2663G>T (p.Trp888Leu) c.1319G>T (p.Trp440Leu) c.4678G>T c.5720G>T (p.Trp1907Leu) c.5174G>T (p.Trp1725Leu) c.4901G>T (p.Trp1634Leu) n.302G>T c.1407G>T c.5447G>T (p.Trp1816Leu) c.4628G>T (p.Trp1543Leu) c.4082G>T (p.Trp1361Leu) c.5996G>T (p.Trp1999Leu) c.5723G>T (p.Trp1908Leu) c.5177G>T (p.Trp1726Leu) c.4904G>T (p.Trp1635Leu) c.4355G>T (p.Trp1452Leu) c.6269G>T (p.Trp2090Leu) c.5993G>T (p.Trp1998Leu) | |
9 | g.115035271C>G | CA374626520 | TNC | c.3809G>C (p.Trp1270Ser) c.4631G>C (p.Trp1544Ser) c.2663G>C (p.Trp888Ser) c.1319G>C (p.Trp440Ser) c.4678G>C c.5720G>C (p.Trp1907Ser) c.5174G>C (p.Trp1725Ser) c.4901G>C (p.Trp1634Ser) n.302G>C c.1407G>C c.5447G>C (p.Trp1816Ser) c.4628G>C (p.Trp1543Ser) c.4082G>C (p.Trp1361Ser) c.5996G>C (p.Trp1999Ser) c.5723G>C (p.Trp1908Ser) c.5177G>C (p.Trp1726Ser) c.4904G>C (p.Trp1635Ser) c.4355G>C (p.Trp1452Ser) c.6269G>C (p.Trp2090Ser) c.5993G>C (p.Trp1998Ser) | |
9 | g.115035271C>T | CA374626521 | TNC | c.3809G>A (p.Trp1270Ter) c.4631G>A (p.Trp1544Ter) c.2663G>A (p.Trp888Ter) c.1319G>A (p.Trp440Ter) c.4678G>A c.5720G>A (p.Trp1907Ter) c.5174G>A (p.Trp1725Ter) c.4901G>A (p.Trp1634Ter) n.302G>A c.1407G>A c.5447G>A (p.Trp1816Ter) c.4628G>A (p.Trp1543Ter) c.4082G>A (p.Trp1361Ter) c.5996G>A (p.Trp1999Ter) c.5723G>A (p.Trp1908Ter) c.5177G>A (p.Trp1726Ter) c.4904G>A (p.Trp1635Ter) c.4355G>A (p.Trp1452Ter) c.6269G>A (p.Trp2090Ter) c.5993G>A (p.Trp1998Ter) | |
9 | g.115035272A>C | CA374626522 | TNC | c.3808T>G (p.Trp1270Gly) c.4630T>G (p.Trp1544Gly) c.2662T>G (p.Trp888Gly) c.1318T>G (p.Trp440Gly) c.4677T>G c.5719T>G (p.Trp1907Gly) c.5173T>G (p.Trp1725Gly) c.4900T>G (p.Trp1634Gly) n.301T>G c.1406T>G c.5446T>G (p.Trp1816Gly) c.4627T>G (p.Trp1543Gly) c.4081T>G (p.Trp1361Gly) c.5995T>G (p.Trp1999Gly) c.5722T>G (p.Trp1908Gly) c.5176T>G (p.Trp1726Gly) c.4903T>G (p.Trp1635Gly) c.4354T>G (p.Trp1452Gly) c.6268T>G (p.Trp2090Gly) c.5992T>G (p.Trp1998Gly) | |
9 | g.115035272A>G | CA374626523 | TNC | c.3808T>C (p.Trp1270Arg) c.4630T>C (p.Trp1544Arg) c.2662T>C (p.Trp888Arg) c.1318T>C (p.Trp440Arg) c.4677T>C c.5719T>C (p.Trp1907Arg) c.5173T>C (p.Trp1725Arg) c.4900T>C (p.Trp1634Arg) n.301T>C c.1406T>C c.5446T>C (p.Trp1816Arg) c.4627T>C (p.Trp1543Arg) c.4081T>C (p.Trp1361Arg) c.5995T>C (p.Trp1999Arg) c.5722T>C (p.Trp1908Arg) c.5176T>C (p.Trp1726Arg) c.4903T>C (p.Trp1635Arg) c.4354T>C (p.Trp1452Arg) c.6268T>C (p.Trp2090Arg) c.5992T>C (p.Trp1998Arg) | |
9 | g.115035272A>T | CA374626524 | TNC | c.3808T>A (p.Trp1270Arg) c.4630T>A (p.Trp1544Arg) c.2662T>A (p.Trp888Arg) c.1318T>A (p.Trp440Arg) c.4677T>A c.5719T>A (p.Trp1907Arg) c.5173T>A (p.Trp1725Arg) c.4900T>A (p.Trp1634Arg) n.301T>A c.1406T>A c.5446T>A (p.Trp1816Arg) c.4627T>A (p.Trp1543Arg) c.4081T>A (p.Trp1361Arg) c.5995T>A (p.Trp1999Arg) c.5722T>A (p.Trp1908Arg) c.5176T>A (p.Trp1726Arg) c.4903T>A (p.Trp1635Arg) c.4354T>A (p.Trp1452Arg) c.6268T>A (p.Trp2090Arg) c.5992T>A (p.Trp1998Arg) | |
9 | g.115035273G>A | CA466790142 | TNC | c.3807C>T (p.Thr1269=) c.4629C>T (p.Thr1543=) c.2661C>T (p.Thr887=) c.1317C>T (p.Thr439=) c.4676C>T c.5718C>T (p.Thr1906=) c.5172C>T (p.Thr1724=) c.4899C>T (p.Thr1633=) n.300C>T c.1405C>T c.5445C>T (p.Thr1815=) c.4626C>T (p.Thr1542=) c.4080C>T (p.Thr1360=) c.5994C>T (p.Thr1998=) c.5721C>T (p.Thr1907=) c.5175C>T (p.Thr1725=) c.4902C>T (p.Thr1634=) c.4353C>T (p.Thr1451=) c.6267C>T (p.Thr2089=) c.5991C>T (p.Thr1997=) | |
9 | g.115035273G>C | CA466790144 | TNC | c.3807C>G (p.Thr1269=) c.4629C>G (p.Thr1543=) c.2661C>G (p.Thr887=) c.1317C>G (p.Thr439=) c.4676C>G c.5718C>G (p.Thr1906=) c.5172C>G (p.Thr1724=) c.4899C>G (p.Thr1633=) n.300C>G c.1405C>G c.5445C>G (p.Thr1815=) c.4626C>G (p.Thr1542=) c.4080C>G (p.Thr1360=) c.5994C>G (p.Thr1998=) c.5721C>G (p.Thr1907=) c.5175C>G (p.Thr1725=) c.4902C>G (p.Thr1634=) c.4353C>G (p.Thr1451=) c.6267C>G (p.Thr2089=) c.5991C>G (p.Thr1997=) | |
9 | g.115035273G>T | CA466790140 | TNC | c.3807C>A (p.Thr1269=) c.4629C>A (p.Thr1543=) c.2661C>A (p.Thr887=) c.1317C>A (p.Thr439=) c.4676C>A c.5718C>A (p.Thr1906=) c.5172C>A (p.Thr1724=) c.4899C>A (p.Thr1633=) n.300C>A c.1405C>A c.5445C>A (p.Thr1815=) c.4626C>A (p.Thr1542=) c.4080C>A (p.Thr1360=) c.5994C>A (p.Thr1998=) c.5721C>A (p.Thr1907=) c.5175C>A (p.Thr1725=) c.4902C>A (p.Thr1634=) c.4353C>A (p.Thr1451=) c.6267C>A (p.Thr2089=) c.5991C>A (p.Thr1997=) | |
9 | g.115035274G>A | CA374626525 | TNC | c.3806C>T (p.Thr1269Ile) c.4628C>T (p.Thr1543Ile) c.2660C>T (p.Thr887Ile) c.1316C>T (p.Thr439Ile) c.4675C>T c.5717C>T (p.Thr1906Ile) c.5171C>T (p.Thr1724Ile) c.4898C>T (p.Thr1633Ile) n.299C>T c.1404C>T c.5444C>T (p.Thr1815Ile) c.4625C>T (p.Thr1542Ile) c.4079C>T (p.Thr1360Ile) c.5993C>T (p.Thr1998Ile) c.5720C>T (p.Thr1907Ile) c.5174C>T (p.Thr1725Ile) c.4901C>T (p.Thr1634Ile) c.4352C>T (p.Thr1451Ile) c.6266C>T (p.Thr2089Ile) c.5990C>T (p.Thr1997Ile) | |
9 | g.115035274G>C | CA374626526 | TNC | c.3806C>G (p.Thr1269Ser) c.4628C>G (p.Thr1543Ser) c.2660C>G (p.Thr887Ser) c.1316C>G (p.Thr439Ser) c.4675C>G c.5717C>G (p.Thr1906Ser) c.5171C>G (p.Thr1724Ser) c.4898C>G (p.Thr1633Ser) n.299C>G c.1404C>G c.5444C>G (p.Thr1815Ser) c.4625C>G (p.Thr1542Ser) c.4079C>G (p.Thr1360Ser) c.5993C>G (p.Thr1998Ser) c.5720C>G (p.Thr1907Ser) c.5174C>G (p.Thr1725Ser) c.4901C>G (p.Thr1634Ser) c.4352C>G (p.Thr1451Ser) c.6266C>G (p.Thr2089Ser) c.5990C>G (p.Thr1997Ser) | |
9 | g.115035274G>T | CA374626527 | TNC | c.3806C>A (p.Thr1269Asn) c.4628C>A (p.Thr1543Asn) c.2660C>A (p.Thr887Asn) c.1316C>A (p.Thr439Asn) c.4675C>A c.5717C>A (p.Thr1906Asn) c.5171C>A (p.Thr1724Asn) c.4898C>A (p.Thr1633Asn) n.299C>A c.1404C>A c.5444C>A (p.Thr1815Asn) c.4625C>A (p.Thr1542Asn) c.4079C>A (p.Thr1360Asn) c.5993C>A (p.Thr1998Asn) c.5720C>A (p.Thr1907Asn) c.5174C>A (p.Thr1725Asn) c.4901C>A (p.Thr1634Asn) c.4352C>A (p.Thr1451Asn) c.6266C>A (p.Thr2089Asn) c.5990C>A (p.Thr1997Asn) | |
9 | g.115035275T>A | CA374626528 | TNC | c.3805A>T (p.Thr1269Ser) c.4627A>T (p.Thr1543Ser) c.2659A>T (p.Thr887Ser) c.1315A>T (p.Thr439Ser) c.4674A>T c.5716A>T (p.Thr1906Ser) c.5170A>T (p.Thr1724Ser) c.4897A>T (p.Thr1633Ser) n.298A>T c.1403A>T c.5443A>T (p.Thr1815Ser) c.4624A>T (p.Thr1542Ser) c.4078A>T (p.Thr1360Ser) c.5992A>T (p.Thr1998Ser) c.5719A>T (p.Thr1907Ser) c.5173A>T (p.Thr1725Ser) c.4900A>T (p.Thr1634Ser) c.4351A>T (p.Thr1451Ser) c.6265A>T (p.Thr2089Ser) c.5989A>T (p.Thr1997Ser) | |
9 | g.115035275T>C | CA374626529 | TNC | c.3805A>G (p.Thr1269Ala) c.4627A>G (p.Thr1543Ala) c.2659A>G (p.Thr887Ala) c.1315A>G (p.Thr439Ala) c.4674A>G c.5716A>G (p.Thr1906Ala) c.5170A>G (p.Thr1724Ala) c.4897A>G (p.Thr1633Ala) n.298A>G c.1403A>G c.5443A>G (p.Thr1815Ala) c.4624A>G (p.Thr1542Ala) c.4078A>G (p.Thr1360Ala) c.5992A>G (p.Thr1998Ala) c.5719A>G (p.Thr1907Ala) c.5173A>G (p.Thr1725Ala) c.4900A>G (p.Thr1634Ala) c.4351A>G (p.Thr1451Ala) c.6265A>G (p.Thr2089Ala) c.5989A>G (p.Thr1997Ala) | gnomAD v4 |
9 | g.115035275T>G | CA374626530 | TNC | c.3805A>C (p.Thr1269Pro) c.4627A>C (p.Thr1543Pro) c.2659A>C (p.Thr887Pro) c.1315A>C (p.Thr439Pro) c.4674A>C c.5716A>C (p.Thr1906Pro) c.5170A>C (p.Thr1724Pro) c.4897A>C (p.Thr1633Pro) n.298A>C c.1403A>C c.5443A>C (p.Thr1815Pro) c.4624A>C (p.Thr1542Pro) c.4078A>C (p.Thr1360Pro) c.5992A>C (p.Thr1998Pro) c.5719A>C (p.Thr1907Pro) c.5173A>C (p.Thr1725Pro) c.4900A>C (p.Thr1634Pro) c.4351A>C (p.Thr1451Pro) c.6265A>C (p.Thr2089Pro) c.5989A>C (p.Thr1997Pro) | |
9 | g.115035276A>C | CA466790155 | TNC | c.3804T>G (p.Leu1268=) c.4626T>G (p.Leu1542=) c.2658T>G (p.Leu886=) c.1314T>G (p.Leu438=) c.4673T>G c.5715T>G (p.Leu1905=) c.5169T>G (p.Leu1723=) c.4896T>G (p.Leu1632=) n.297T>G c.1402T>G c.5442T>G (p.Leu1814=) c.4623T>G (p.Leu1541=) c.4077T>G (p.Leu1359=) c.5991T>G (p.Leu1997=) c.5718T>G (p.Leu1906=) c.5172T>G (p.Leu1724=) c.4899T>G (p.Leu1633=) c.4350T>G (p.Leu1450=) c.6264T>G (p.Leu2088=) c.5988T>G (p.Leu1996=) | |
9 | g.115035276A>G | CA466790157 | TNC | c.3804T>C (p.Leu1268=) c.4626T>C (p.Leu1542=) c.2658T>C (p.Leu886=) c.1314T>C (p.Leu438=) c.4673T>C c.5715T>C (p.Leu1905=) c.5169T>C (p.Leu1723=) c.4896T>C (p.Leu1632=) n.297T>C c.1402T>C c.5442T>C (p.Leu1814=) c.4623T>C (p.Leu1541=) c.4077T>C (p.Leu1359=) c.5991T>C (p.Leu1997=) c.5718T>C (p.Leu1906=) c.5172T>C (p.Leu1724=) c.4899T>C (p.Leu1633=) c.4350T>C (p.Leu1450=) c.6264T>C (p.Leu2088=) c.5988T>C (p.Leu1996=) | |
9 | g.115035276A>T | CA466790160 | TNC | c.3804T>A (p.Leu1268=) c.4626T>A (p.Leu1542=) c.2658T>A (p.Leu886=) c.1314T>A (p.Leu438=) c.4673T>A c.5715T>A (p.Leu1905=) c.5169T>A (p.Leu1723=) c.4896T>A (p.Leu1632=) n.297T>A c.1402T>A c.5442T>A (p.Leu1814=) c.4623T>A (p.Leu1541=) c.4077T>A (p.Leu1359=) c.5991T>A (p.Leu1997=) c.5718T>A (p.Leu1906=) c.5172T>A (p.Leu1724=) c.4899T>A (p.Leu1633=) c.4350T>A (p.Leu1450=) c.6264T>A (p.Leu2088=) c.5988T>A (p.Leu1996=) | |
9 | g.115035277A>C | CA374626533 | TNC | c.3803T>G (p.Leu1268Arg) c.4625T>G (p.Leu1542Arg) c.2657T>G (p.Leu886Arg) c.1313T>G (p.Leu438Arg) c.4672T>G c.5714T>G (p.Leu1905Arg) c.5168T>G (p.Leu1723Arg) c.4895T>G (p.Leu1632Arg) n.296T>G c.1401T>G c.5441T>G (p.Leu1814Arg) c.4622T>G (p.Leu1541Arg) c.4076T>G (p.Leu1359Arg) c.5990T>G (p.Leu1997Arg) c.5717T>G (p.Leu1906Arg) c.5171T>G (p.Leu1724Arg) c.4898T>G (p.Leu1633Arg) c.4349T>G (p.Leu1450Arg) c.6263T>G (p.Leu2088Arg) c.5987T>G (p.Leu1996Arg) | |
9 | g.115035277A>G | CA374626532 | TNC | c.3803T>C (p.Leu1268Pro) c.4625T>C (p.Leu1542Pro) c.2657T>C (p.Leu886Pro) c.1313T>C (p.Leu438Pro) c.4672T>C c.5714T>C (p.Leu1905Pro) c.5168T>C (p.Leu1723Pro) c.4895T>C (p.Leu1632Pro) n.296T>C c.1401T>C c.5441T>C (p.Leu1814Pro) c.4622T>C (p.Leu1541Pro) c.4076T>C (p.Leu1359Pro) c.5990T>C (p.Leu1997Pro) c.5717T>C (p.Leu1906Pro) c.5171T>C (p.Leu1724Pro) c.4898T>C (p.Leu1633Pro) c.4349T>C (p.Leu1450Pro) c.6263T>C (p.Leu2088Pro) c.5987T>C (p.Leu1996Pro) | |
9 | g.115035277A>T | CA374626531 | TNC | c.3803T>A (p.Leu1268His) c.4625T>A (p.Leu1542His) c.2657T>A (p.Leu886His) c.1313T>A (p.Leu438His) c.4672T>A c.5714T>A (p.Leu1905His) c.5168T>A (p.Leu1723His) c.4895T>A (p.Leu1632His) n.296T>A c.1401T>A c.5441T>A (p.Leu1814His) c.4622T>A (p.Leu1541His) c.4076T>A (p.Leu1359His) c.5990T>A (p.Leu1997His) c.5717T>A (p.Leu1906His) c.5171T>A (p.Leu1724His) c.4898T>A (p.Leu1633His) c.4349T>A (p.Leu1450His) c.6263T>A (p.Leu2088His) c.5987T>A (p.Leu1996His) | |
9 | g.115035278G>A | CA5207557 | TNC | c.3802C>T (p.Leu1268Phe) c.4624C>T (p.Leu1542Phe) c.2656C>T (p.Leu886Phe) c.1312C>T (p.Leu438Phe) c.4671C>T c.5713C>T (p.Leu1905Phe) c.5167C>T (p.Leu1723Phe) c.4894C>T (p.Leu1632Phe) n.295C>T c.1400C>T c.5440C>T (p.Leu1814Phe) c.4621C>T (p.Leu1541Phe) c.4075C>T (p.Leu1359Phe) c.5989C>T (p.Leu1997Phe) c.5716C>T (p.Leu1906Phe) c.5170C>T (p.Leu1724Phe) c.4897C>T (p.Leu1633Phe) c.4348C>T (p.Leu1450Phe) c.6262C>T (p.Leu2088Phe) c.5986C>T (p.Leu1996Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035278G>C | CA374626535 | TNC | c.3802C>G (p.Leu1268Val) c.4624C>G (p.Leu1542Val) c.2656C>G (p.Leu886Val) c.1312C>G (p.Leu438Val) c.4671C>G c.5713C>G (p.Leu1905Val) c.5167C>G (p.Leu1723Val) c.4894C>G (p.Leu1632Val) n.295C>G c.1400C>G c.5440C>G (p.Leu1814Val) c.4621C>G (p.Leu1541Val) c.4075C>G (p.Leu1359Val) c.5989C>G (p.Leu1997Val) c.5716C>G (p.Leu1906Val) c.5170C>G (p.Leu1724Val) c.4897C>G (p.Leu1633Val) c.4348C>G (p.Leu1450Val) c.6262C>G (p.Leu2088Val) c.5986C>G (p.Leu1996Val) | |
9 | g.115035278G= | CA1874113756 | TNC | c.3802C= (p.Leu1268=) c.4624C= (p.Leu1542=) c.2656C= (p.Leu886=) c.1312C= (p.Leu438=) c.4671C= c.5713C= (p.Leu1905=) c.5167C= (p.Leu1723=) c.4894C= (p.Leu1632=) n.295C= c.1400C= c.5440C= (p.Leu1814=) c.4621C= (p.Leu1541=) c.4075C= (p.Leu1359=) c.5989C= (p.Leu1997=) c.5716C= (p.Leu1906=) c.5170C= (p.Leu1724=) c.4897C= (p.Leu1633=) c.4348C= (p.Leu1450=) c.6262C= (p.Leu2088=) c.5986C= (p.Leu1996=) | |
9 | g.115035278G>T | CA374626534 | TNC | c.3802C>A (p.Leu1268Ile) c.4624C>A (p.Leu1542Ile) c.2656C>A (p.Leu886Ile) c.1312C>A (p.Leu438Ile) c.4671C>A c.5713C>A (p.Leu1905Ile) c.5167C>A (p.Leu1723Ile) c.4894C>A (p.Leu1632Ile) n.295C>A c.1400C>A c.5440C>A (p.Leu1814Ile) c.4621C>A (p.Leu1541Ile) c.4075C>A (p.Leu1359Ile) c.5989C>A (p.Leu1997Ile) c.5716C>A (p.Leu1906Ile) c.5170C>A (p.Leu1724Ile) c.4897C>A (p.Leu1633Ile) c.4348C>A (p.Leu1450Ile) c.6262C>A (p.Leu2088Ile) c.5986C>A (p.Leu1996Ile) | |
9 | g.115035279G>A | CA466790176 | TNC | c.3801C>T (p.Leu1267=) c.4623C>T (p.Leu1541=) c.2655C>T (p.Leu885=) c.1311C>T (p.Leu437=) c.4670C>T c.5712C>T (p.Leu1904=) c.5166C>T (p.Leu1722=) c.4893C>T (p.Leu1631=) n.294C>T c.1399C>T c.5439C>T (p.Leu1813=) c.4620C>T (p.Leu1540=) c.4074C>T (p.Leu1358=) c.5988C>T (p.Leu1996=) c.5715C>T (p.Leu1905=) c.5169C>T (p.Leu1723=) c.4896C>T (p.Leu1632=) c.4347C>T (p.Leu1449=) c.6261C>T (p.Leu2087=) c.5985C>T (p.Leu1995=) | |
9 | g.115035279G>C | CA466790178 | TNC | c.3801C>G (p.Leu1267=) c.4623C>G (p.Leu1541=) c.2655C>G (p.Leu885=) c.1311C>G (p.Leu437=) c.4670C>G c.5712C>G (p.Leu1904=) c.5166C>G (p.Leu1722=) c.4893C>G (p.Leu1631=) n.294C>G c.1399C>G c.5439C>G (p.Leu1813=) c.4620C>G (p.Leu1540=) c.4074C>G (p.Leu1358=) c.5988C>G (p.Leu1996=) c.5715C>G (p.Leu1905=) c.5169C>G (p.Leu1723=) c.4896C>G (p.Leu1632=) c.4347C>G (p.Leu1449=) c.6261C>G (p.Leu2087=) c.5985C>G (p.Leu1995=) | |
9 | g.115035279G>T | CA466790181 | TNC | c.3801C>A (p.Leu1267=) c.4623C>A (p.Leu1541=) c.2655C>A (p.Leu885=) c.1311C>A (p.Leu437=) c.4670C>A c.5712C>A (p.Leu1904=) c.5166C>A (p.Leu1722=) c.4893C>A (p.Leu1631=) n.294C>A c.1399C>A c.5439C>A (p.Leu1813=) c.4620C>A (p.Leu1540=) c.4074C>A (p.Leu1358=) c.5988C>A (p.Leu1996=) c.5715C>A (p.Leu1905=) c.5169C>A (p.Leu1723=) c.4896C>A (p.Leu1632=) c.4347C>A (p.Leu1449=) c.6261C>A (p.Leu2087=) c.5985C>A (p.Leu1995=) | |
9 | g.115035280A>C | CA374626536 | TNC | c.3800T>G (p.Leu1267Arg) c.4622T>G (p.Leu1541Arg) c.2654T>G (p.Leu885Arg) c.1310T>G (p.Leu437Arg) c.4669T>G c.5711T>G (p.Leu1904Arg) c.5165T>G (p.Leu1722Arg) c.4892T>G (p.Leu1631Arg) n.293T>G c.1398T>G c.5438T>G (p.Leu1813Arg) c.4619T>G (p.Leu1540Arg) c.4073T>G (p.Leu1358Arg) c.5987T>G (p.Leu1996Arg) c.5714T>G (p.Leu1905Arg) c.5168T>G (p.Leu1723Arg) c.4895T>G (p.Leu1632Arg) c.4346T>G (p.Leu1449Arg) c.6260T>G (p.Leu2087Arg) c.5984T>G (p.Leu1995Arg) | |
9 | g.115035280A>G | CA374626538 | TNC | c.3800T>C (p.Leu1267Pro) c.4622T>C (p.Leu1541Pro) c.2654T>C (p.Leu885Pro) c.1310T>C (p.Leu437Pro) c.4669T>C c.5711T>C (p.Leu1904Pro) c.5165T>C (p.Leu1722Pro) c.4892T>C (p.Leu1631Pro) n.293T>C c.1398T>C c.5438T>C (p.Leu1813Pro) c.4619T>C (p.Leu1540Pro) c.4073T>C (p.Leu1358Pro) c.5987T>C (p.Leu1996Pro) c.5714T>C (p.Leu1905Pro) c.5168T>C (p.Leu1723Pro) c.4895T>C (p.Leu1632Pro) c.4346T>C (p.Leu1449Pro) c.6260T>C (p.Leu2087Pro) c.5984T>C (p.Leu1995Pro) | |
9 | g.115035280A>T | CA374626537 | TNC | c.3800T>A (p.Leu1267His) c.4622T>A (p.Leu1541His) c.2654T>A (p.Leu885His) c.1310T>A (p.Leu437His) c.4669T>A c.5711T>A (p.Leu1904His) c.5165T>A (p.Leu1722His) c.4892T>A (p.Leu1631His) n.293T>A c.1398T>A c.5438T>A (p.Leu1813His) c.4619T>A (p.Leu1540His) c.4073T>A (p.Leu1358His) c.5987T>A (p.Leu1996His) c.5714T>A (p.Leu1905His) c.5168T>A (p.Leu1723His) c.4895T>A (p.Leu1632His) c.4346T>A (p.Leu1449His) c.6260T>A (p.Leu2087His) c.5984T>A (p.Leu1995His) | |
9 | g.115035281G>A | CA5207558 | TNC | c.3799C>T (p.Leu1267Phe) c.4621C>T (p.Leu1541Phe) c.2653C>T (p.Leu885Phe) c.1309C>T (p.Leu437Phe) c.4668C>T c.5710C>T (p.Leu1904Phe) c.5164C>T (p.Leu1722Phe) c.4891C>T (p.Leu1631Phe) n.292C>T c.1397C>T c.5437C>T (p.Leu1813Phe) c.4618C>T (p.Leu1540Phe) c.4072C>T (p.Leu1358Phe) c.5986C>T (p.Leu1996Phe) c.5713C>T (p.Leu1905Phe) c.5167C>T (p.Leu1723Phe) c.4894C>T (p.Leu1632Phe) c.4345C>T (p.Leu1449Phe) c.6259C>T (p.Leu2087Phe) c.5983C>T (p.Leu1995Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115035281G>C | CA374626539 | TNC | c.3799C>G (p.Leu1267Val) c.4621C>G (p.Leu1541Val) c.2653C>G (p.Leu885Val) c.1309C>G (p.Leu437Val) c.4668C>G c.5710C>G (p.Leu1904Val) c.5164C>G (p.Leu1722Val) c.4891C>G (p.Leu1631Val) n.292C>G c.1397C>G c.5437C>G (p.Leu1813Val) c.4618C>G (p.Leu1540Val) c.4072C>G (p.Leu1358Val) c.5986C>G (p.Leu1996Val) c.5713C>G (p.Leu1905Val) c.5167C>G (p.Leu1723Val) c.4894C>G (p.Leu1632Val) c.4345C>G (p.Leu1449Val) c.6259C>G (p.Leu2087Val) c.5983C>G (p.Leu1995Val) | |
9 | g.115035281G= | CA1874113757 | TNC | c.3799C= (p.Leu1267=) c.4621C= (p.Leu1541=) c.2653C= (p.Leu885=) c.1309C= (p.Leu437=) c.4668C= c.5710C= (p.Leu1904=) c.5164C= (p.Leu1722=) c.4891C= (p.Leu1631=) n.292C= c.1397C= c.5437C= (p.Leu1813=) c.4618C= (p.Leu1540=) c.4072C= (p.Leu1358=) c.5986C= (p.Leu1996=) c.5713C= (p.Leu1905=) c.5167C= (p.Leu1723=) c.4894C= (p.Leu1632=) c.4345C= (p.Leu1449=) c.6259C= (p.Leu2087=) c.5983C= (p.Leu1995=) | |
9 | g.115035281G>T | CA374626540 | TNC | c.3799C>A (p.Leu1267Ile) c.4621C>A (p.Leu1541Ile) c.2653C>A (p.Leu885Ile) c.1309C>A (p.Leu437Ile) c.4668C>A c.5710C>A (p.Leu1904Ile) c.5164C>A (p.Leu1722Ile) c.4891C>A (p.Leu1631Ile) n.292C>A c.1397C>A c.5437C>A (p.Leu1813Ile) c.4618C>A (p.Leu1540Ile) c.4072C>A (p.Leu1358Ile) c.5986C>A (p.Leu1996Ile) c.5713C>A (p.Leu1905Ile) c.5167C>A (p.Leu1723Ile) c.4894C>A (p.Leu1632Ile) c.4345C>A (p.Leu1449Ile) c.6259C>A (p.Leu2087Ile) c.5983C>A (p.Leu1995Ile) | |
9 | g.115035282G>A | CA5207559 | TNC | c.3798C>T (p.Ala1266=) c.4620C>T (p.Ala1540=) c.2652C>T (p.Ala884=) c.1308C>T (p.Ala436=) c.4667C>T c.5709C>T (p.Ala1903=) c.5163C>T (p.Ala1721=) c.4890C>T (p.Ala1630=) n.291C>T c.1396C>T c.5436C>T (p.Ala1812=) c.4617C>T (p.Ala1539=) c.4071C>T (p.Ala1357=) c.5985C>T (p.Ala1995=) c.5712C>T (p.Ala1904=) c.5166C>T (p.Ala1722=) c.4893C>T (p.Ala1631=) c.4344C>T (p.Ala1448=) c.6258C>T (p.Ala2086=) c.5982C>T (p.Ala1994=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035282G>C | CA466790197 | TNC | c.3798C>G (p.Ala1266=) c.4620C>G (p.Ala1540=) c.2652C>G (p.Ala884=) c.1308C>G (p.Ala436=) c.4667C>G c.5709C>G (p.Ala1903=) c.5163C>G (p.Ala1721=) c.4890C>G (p.Ala1630=) n.291C>G c.1396C>G c.5436C>G (p.Ala1812=) c.4617C>G (p.Ala1539=) c.4071C>G (p.Ala1357=) c.5985C>G (p.Ala1995=) c.5712C>G (p.Ala1904=) c.5166C>G (p.Ala1722=) c.4893C>G (p.Ala1631=) c.4344C>G (p.Ala1448=) c.6258C>G (p.Ala2086=) c.5982C>G (p.Ala1994=) | |
9 | g.115035282G= | CA1874113758 | TNC | c.3798C= (p.Ala1266=) c.4620C= (p.Ala1540=) c.2652C= (p.Ala884=) c.1308C= (p.Ala436=) c.4667C= c.5709C= (p.Ala1903=) c.5163C= (p.Ala1721=) c.4890C= (p.Ala1630=) n.291C= c.1396C= c.5436C= (p.Ala1812=) c.4617C= (p.Ala1539=) c.4071C= (p.Ala1357=) c.5985C= (p.Ala1995=) c.5712C= (p.Ala1904=) c.5166C= (p.Ala1722=) c.4893C= (p.Ala1631=) c.4344C= (p.Ala1448=) c.6258C= (p.Ala2086=) c.5982C= (p.Ala1994=) | |
9 | g.115035282G>T | CA466790199 | TNC | c.3798C>A (p.Ala1266=) c.4620C>A (p.Ala1540=) c.2652C>A (p.Ala884=) c.1308C>A (p.Ala436=) c.4667C>A c.5709C>A (p.Ala1903=) c.5163C>A (p.Ala1721=) c.4890C>A (p.Ala1630=) n.291C>A c.1396C>A c.5436C>A (p.Ala1812=) c.4617C>A (p.Ala1539=) c.4071C>A (p.Ala1357=) c.5985C>A (p.Ala1995=) c.5712C>A (p.Ala1904=) c.5166C>A (p.Ala1722=) c.4893C>A (p.Ala1631=) c.4344C>A (p.Ala1448=) c.6258C>A (p.Ala2086=) c.5982C>A (p.Ala1994=) | |
9 | g.115035283G>A | CA374626541 | TNC | c.3797C>T (p.Ala1266Val) c.4619C>T (p.Ala1540Val) c.2651C>T (p.Ala884Val) c.1307C>T (p.Ala436Val) c.4666C>T c.5708C>T (p.Ala1903Val) c.5162C>T (p.Ala1721Val) c.4889C>T (p.Ala1630Val) n.290C>T c.1395C>T c.5435C>T (p.Ala1812Val) c.4616C>T (p.Ala1539Val) c.4070C>T (p.Ala1357Val) c.5984C>T (p.Ala1995Val) c.5711C>T (p.Ala1904Val) c.5165C>T (p.Ala1722Val) c.4892C>T (p.Ala1631Val) c.4343C>T (p.Ala1448Val) c.6257C>T (p.Ala2086Val) c.5981C>T (p.Ala1994Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115035283G>C | CA374626542 | TNC | c.3797C>G (p.Ala1266Gly) c.4619C>G (p.Ala1540Gly) c.2651C>G (p.Ala884Gly) c.1307C>G (p.Ala436Gly) c.4666C>G c.5708C>G (p.Ala1903Gly) c.5162C>G (p.Ala1721Gly) c.4889C>G (p.Ala1630Gly) n.290C>G c.1395C>G c.5435C>G (p.Ala1812Gly) c.4616C>G (p.Ala1539Gly) c.4070C>G (p.Ala1357Gly) c.5984C>G (p.Ala1995Gly) c.5711C>G (p.Ala1904Gly) c.5165C>G (p.Ala1722Gly) c.4892C>G (p.Ala1631Gly) c.4343C>G (p.Ala1448Gly) c.6257C>G (p.Ala2086Gly) c.5981C>G (p.Ala1994Gly) | |
9 | g.115035283G= | CA1874113759 | TNC | c.3797C= (p.Ala1266=) c.4619C= (p.Ala1540=) c.2651C= (p.Ala884=) c.1307C= (p.Ala436=) c.4666C= c.5708C= (p.Ala1903=) c.5162C= (p.Ala1721=) c.4889C= (p.Ala1630=) n.290C= c.1395C= c.5435C= (p.Ala1812=) c.4616C= (p.Ala1539=) c.4070C= (p.Ala1357=) c.5984C= (p.Ala1995=) c.5711C= (p.Ala1904=) c.5165C= (p.Ala1722=) c.4892C= (p.Ala1631=) c.4343C= (p.Ala1448=) c.6257C= (p.Ala2086=) c.5981C= (p.Ala1994=) | |
9 | g.115035283G>T | CA374626543 | TNC | c.3797C>A (p.Ala1266Asp) c.4619C>A (p.Ala1540Asp) c.2651C>A (p.Ala884Asp) c.1307C>A (p.Ala436Asp) c.4666C>A c.5708C>A (p.Ala1903Asp) c.5162C>A (p.Ala1721Asp) c.4889C>A (p.Ala1630Asp) n.290C>A c.1395C>A c.5435C>A (p.Ala1812Asp) c.4616C>A (p.Ala1539Asp) c.4070C>A (p.Ala1357Asp) c.5984C>A (p.Ala1995Asp) c.5711C>A (p.Ala1904Asp) c.5165C>A (p.Ala1722Asp) c.4892C>A (p.Ala1631Asp) c.4343C>A (p.Ala1448Asp) c.6257C>A (p.Ala2086Asp) c.5981C>A (p.Ala1994Asp) | |
9 | g.115035284C>A | CA198682468 | TNC | c.3796G>T (p.Ala1266Ser) c.4618G>T (p.Ala1540Ser) c.2650G>T (p.Ala884Ser) c.1306G>T (p.Ala436Ser) c.4665G>T c.5707G>T (p.Ala1903Ser) c.5161G>T (p.Ala1721Ser) c.4888G>T (p.Ala1630Ser) n.289G>T c.1394G>T c.5434G>T (p.Ala1812Ser) c.4615G>T (p.Ala1539Ser) c.4069G>T (p.Ala1357Ser) c.5983G>T (p.Ala1995Ser) c.5710G>T (p.Ala1904Ser) c.5164G>T (p.Ala1722Ser) c.4891G>T (p.Ala1631Ser) c.4342G>T (p.Ala1448Ser) c.6256G>T (p.Ala2086Ser) c.5980G>T (p.Ala1994Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115035284C= | CA1874113760 | TNC | c.3796G= (p.Ala1266=) c.4618G= (p.Ala1540=) c.2650G= (p.Ala884=) c.1306G= (p.Ala436=) c.4665G= c.5707G= (p.Ala1903=) c.5161G= (p.Ala1721=) c.4888G= (p.Ala1630=) n.289G= c.1394G= c.5434G= (p.Ala1812=) c.4615G= (p.Ala1539=) c.4069G= (p.Ala1357=) c.5983G= (p.Ala1995=) c.5710G= (p.Ala1904=) c.5164G= (p.Ala1722=) c.4891G= (p.Ala1631=) c.4342G= (p.Ala1448=) c.6256G= (p.Ala2086=) c.5980G= (p.Ala1994=) | |
9 | g.115035284C>G | CA374626544 | TNC | c.3796G>C (p.Ala1266Pro) c.4618G>C (p.Ala1540Pro) c.2650G>C (p.Ala884Pro) c.1306G>C (p.Ala436Pro) c.4665G>C c.5707G>C (p.Ala1903Pro) c.5161G>C (p.Ala1721Pro) c.4888G>C (p.Ala1630Pro) n.289G>C c.1394G>C c.5434G>C (p.Ala1812Pro) c.4615G>C (p.Ala1539Pro) c.4069G>C (p.Ala1357Pro) c.5983G>C (p.Ala1995Pro) c.5710G>C (p.Ala1904Pro) c.5164G>C (p.Ala1722Pro) c.4891G>C (p.Ala1631Pro) c.4342G>C (p.Ala1448Pro) c.6256G>C (p.Ala2086Pro) c.5980G>C (p.Ala1994Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035284C>T | CA374626545 | TNC | c.3796G>A (p.Ala1266Thr) c.4618G>A (p.Ala1540Thr) c.2650G>A (p.Ala884Thr) c.1306G>A (p.Ala436Thr) c.4665G>A c.5707G>A (p.Ala1903Thr) c.5161G>A (p.Ala1721Thr) c.4888G>A (p.Ala1630Thr) n.289G>A c.1394G>A c.5434G>A (p.Ala1812Thr) c.4615G>A (p.Ala1539Thr) c.4069G>A (p.Ala1357Thr) c.5983G>A (p.Ala1995Thr) c.5710G>A (p.Ala1904Thr) c.5164G>A (p.Ala1722Thr) c.4891G>A (p.Ala1631Thr) c.4342G>A (p.Ala1448Thr) c.6256G>A (p.Ala2086Thr) c.5980G>A (p.Ala1994Thr) | gnomAD v4 |
9 | g.115035285A= | CA1874113761 | TNC | c.3795T= (p.Thr1265=) c.4617T= (p.Thr1539=) c.2649T= (p.Thr883=) c.1305T= (p.Thr435=) c.4664T= c.5706T= (p.Thr1902=) c.5160T= (p.Thr1720=) c.4887T= (p.Thr1629=) n.288T= c.1393T= c.5433T= (p.Thr1811=) c.4614T= (p.Thr1538=) c.4068T= (p.Thr1356=) c.5982T= (p.Thr1994=) c.5709T= (p.Thr1903=) c.5163T= (p.Thr1721=) c.4890T= (p.Thr1630=) c.4341T= (p.Thr1447=) c.6255T= (p.Thr2085=) c.5979T= (p.Thr1993=) | |
9 | g.115035285A>C | CA466790215 | TNC | c.3795T>G (p.Thr1265=) c.4617T>G (p.Thr1539=) c.2649T>G (p.Thr883=) c.1305T>G (p.Thr435=) c.4664T>G c.5706T>G (p.Thr1902=) c.5160T>G (p.Thr1720=) c.4887T>G (p.Thr1629=) n.288T>G c.1393T>G c.5433T>G (p.Thr1811=) c.4614T>G (p.Thr1538=) c.4068T>G (p.Thr1356=) c.5982T>G (p.Thr1994=) c.5709T>G (p.Thr1903=) c.5163T>G (p.Thr1721=) c.4890T>G (p.Thr1630=) c.4341T>G (p.Thr1447=) c.6255T>G (p.Thr2085=) c.5979T>G (p.Thr1993=) | dbSNP |
9 | g.115035285A>G | CA466790218 | TNC | c.3795T>C (p.Thr1265=) c.4617T>C (p.Thr1539=) c.2649T>C (p.Thr883=) c.1305T>C (p.Thr435=) c.4664T>C c.5706T>C (p.Thr1902=) c.5160T>C (p.Thr1720=) c.4887T>C (p.Thr1629=) n.288T>C c.1393T>C c.5433T>C (p.Thr1811=) c.4614T>C (p.Thr1538=) c.4068T>C (p.Thr1356=) c.5982T>C (p.Thr1994=) c.5709T>C (p.Thr1903=) c.5163T>C (p.Thr1721=) c.4890T>C (p.Thr1630=) c.4341T>C (p.Thr1447=) c.6255T>C (p.Thr2085=) c.5979T>C (p.Thr1993=) | |
9 | g.115035285A>T | CA466790220 | TNC | c.3795T>A (p.Thr1265=) c.4617T>A (p.Thr1539=) c.2649T>A (p.Thr883=) c.1305T>A (p.Thr435=) c.4664T>A c.5706T>A (p.Thr1902=) c.5160T>A (p.Thr1720=) c.4887T>A (p.Thr1629=) n.288T>A c.1393T>A c.5433T>A (p.Thr1811=) c.4614T>A (p.Thr1538=) c.4068T>A (p.Thr1356=) c.5982T>A (p.Thr1994=) c.5709T>A (p.Thr1903=) c.5163T>A (p.Thr1721=) c.4890T>A (p.Thr1630=) c.4341T>A (p.Thr1447=) c.6255T>A (p.Thr2085=) c.5979T>A (p.Thr1993=) | |
9 | g.115035286G>A | CA374626548 | TNC | c.3794C>T (p.Thr1265Ile) c.4616C>T (p.Thr1539Ile) c.2648C>T (p.Thr883Ile) c.1304C>T (p.Thr435Ile) c.4663C>T c.5705C>T (p.Thr1902Ile) c.5159C>T (p.Thr1720Ile) c.4886C>T (p.Thr1629Ile) n.287C>T c.1392C>T c.5432C>T (p.Thr1811Ile) c.4613C>T (p.Thr1538Ile) c.4067C>T (p.Thr1356Ile) c.5981C>T (p.Thr1994Ile) c.5708C>T (p.Thr1903Ile) c.5162C>T (p.Thr1721Ile) c.4889C>T (p.Thr1630Ile) c.4340C>T (p.Thr1447Ile) c.6254C>T (p.Thr2085Ile) c.5978C>T (p.Thr1993Ile) | gnomAD v4 |
9 | g.115035286G>C | CA374626547 | TNC | c.3794C>G (p.Thr1265Ser) c.4616C>G (p.Thr1539Ser) c.2648C>G (p.Thr883Ser) c.1304C>G (p.Thr435Ser) c.4663C>G c.5705C>G (p.Thr1902Ser) c.5159C>G (p.Thr1720Ser) c.4886C>G (p.Thr1629Ser) n.287C>G c.1392C>G c.5432C>G (p.Thr1811Ser) c.4613C>G (p.Thr1538Ser) c.4067C>G (p.Thr1356Ser) c.5981C>G (p.Thr1994Ser) c.5708C>G (p.Thr1903Ser) c.5162C>G (p.Thr1721Ser) c.4889C>G (p.Thr1630Ser) c.4340C>G (p.Thr1447Ser) c.6254C>G (p.Thr2085Ser) c.5978C>G (p.Thr1993Ser) | |
9 | g.115035286G>T | CA374626546 | TNC | c.3794C>A (p.Thr1265Asn) c.4616C>A (p.Thr1539Asn) c.2648C>A (p.Thr883Asn) c.1304C>A (p.Thr435Asn) c.4663C>A c.5705C>A (p.Thr1902Asn) c.5159C>A (p.Thr1720Asn) c.4886C>A (p.Thr1629Asn) n.287C>A c.1392C>A c.5432C>A (p.Thr1811Asn) c.4613C>A (p.Thr1538Asn) c.4067C>A (p.Thr1356Asn) c.5981C>A (p.Thr1994Asn) c.5708C>A (p.Thr1903Asn) c.5162C>A (p.Thr1721Asn) c.4889C>A (p.Thr1630Asn) c.4340C>A (p.Thr1447Asn) c.6254C>A (p.Thr2085Asn) c.5978C>A (p.Thr1993Asn) | |
9 | g.115035287T>A | CA374626549 | TNC | c.3793A>T (p.Thr1265Ser) c.4615A>T (p.Thr1539Ser) c.2647A>T (p.Thr883Ser) c.1303A>T (p.Thr435Ser) c.4662A>T c.5704A>T (p.Thr1902Ser) c.5158A>T (p.Thr1720Ser) c.4885A>T (p.Thr1629Ser) n.286A>T c.1391A>T c.5431A>T (p.Thr1811Ser) c.4612A>T (p.Thr1538Ser) c.4066A>T (p.Thr1356Ser) c.5980A>T (p.Thr1994Ser) c.5707A>T (p.Thr1903Ser) c.5161A>T (p.Thr1721Ser) c.4888A>T (p.Thr1630Ser) c.4339A>T (p.Thr1447Ser) c.6253A>T (p.Thr2085Ser) c.5977A>T (p.Thr1993Ser) | |
9 | g.115035287T>C | CA374626550 | TNC | c.3793A>G (p.Thr1265Ala) c.4615A>G (p.Thr1539Ala) c.2647A>G (p.Thr883Ala) c.1303A>G (p.Thr435Ala) c.4662A>G c.5704A>G (p.Thr1902Ala) c.5158A>G (p.Thr1720Ala) c.4885A>G (p.Thr1629Ala) n.286A>G c.1391A>G c.5431A>G (p.Thr1811Ala) c.4612A>G (p.Thr1538Ala) c.4066A>G (p.Thr1356Ala) c.5980A>G (p.Thr1994Ala) c.5707A>G (p.Thr1903Ala) c.5161A>G (p.Thr1721Ala) c.4888A>G (p.Thr1630Ala) c.4339A>G (p.Thr1447Ala) c.6253A>G (p.Thr2085Ala) c.5977A>G (p.Thr1993Ala) | |
9 | g.115035287T>G | CA374626551 | TNC | c.3793A>C (p.Thr1265Pro) c.4615A>C (p.Thr1539Pro) c.2647A>C (p.Thr883Pro) c.1303A>C (p.Thr435Pro) c.4662A>C c.5704A>C (p.Thr1902Pro) c.5158A>C (p.Thr1720Pro) c.4885A>C (p.Thr1629Pro) n.286A>C c.1391A>C c.5431A>C (p.Thr1811Pro) c.4612A>C (p.Thr1538Pro) c.4066A>C (p.Thr1356Pro) c.5980A>C (p.Thr1994Pro) c.5707A>C (p.Thr1903Pro) c.5161A>C (p.Thr1721Pro) c.4888A>C (p.Thr1630Pro) c.4339A>C (p.Thr1447Pro) c.6253A>C (p.Thr2085Pro) c.5977A>C (p.Thr1993Pro) | |
9 | g.115035288T>A | CA374626552 | TNC | c.3792A>T (p.Glu1264Asp) c.4614A>T (p.Glu1538Asp) c.2646A>T (p.Glu882Asp) c.1302A>T (p.Glu434Asp) c.4661A>T c.5703A>T (p.Glu1901Asp) c.5157A>T (p.Glu1719Asp) c.4884A>T (p.Glu1628Asp) n.285A>T c.1390A>T c.5430A>T (p.Glu1810Asp) c.4611A>T (p.Glu1537Asp) c.4065A>T (p.Glu1355Asp) c.5979A>T (p.Glu1993Asp) c.5706A>T (p.Glu1902Asp) c.5160A>T (p.Glu1720Asp) c.4887A>T (p.Glu1629Asp) c.4338A>T (p.Glu1446Asp) c.6252A>T (p.Glu2084Asp) c.5976A>T (p.Glu1992Asp) | |
9 | g.115035288T>C | CA466790235 | TNC | c.3792A>G (p.Glu1264=) c.4614A>G (p.Glu1538=) c.2646A>G (p.Glu882=) c.1302A>G (p.Glu434=) c.4661A>G c.5703A>G (p.Glu1901=) c.5157A>G (p.Glu1719=) c.4884A>G (p.Glu1628=) n.285A>G c.1390A>G c.5430A>G (p.Glu1810=) c.4611A>G (p.Glu1537=) c.4065A>G (p.Glu1355=) c.5979A>G (p.Glu1993=) c.5706A>G (p.Glu1902=) c.5160A>G (p.Glu1720=) c.4887A>G (p.Glu1629=) c.4338A>G (p.Glu1446=) c.6252A>G (p.Glu2084=) c.5976A>G (p.Glu1992=) | |
9 | g.115035288T>G | CA374626553 | TNC | c.3792A>C (p.Glu1264Asp) c.4614A>C (p.Glu1538Asp) c.2646A>C (p.Glu882Asp) c.1302A>C (p.Glu434Asp) c.4661A>C c.5703A>C (p.Glu1901Asp) c.5157A>C (p.Glu1719Asp) c.4884A>C (p.Glu1628Asp) n.285A>C c.1390A>C c.5430A>C (p.Glu1810Asp) c.4611A>C (p.Glu1537Asp) c.4065A>C (p.Glu1355Asp) c.5979A>C (p.Glu1993Asp) c.5706A>C (p.Glu1902Asp) c.5160A>C (p.Glu1720Asp) c.4887A>C (p.Glu1629Asp) c.4338A>C (p.Glu1446Asp) c.6252A>C (p.Glu2084Asp) c.5976A>C (p.Glu1992Asp) | |
9 | g.115035289T>A | CA374626554 | TNC | c.3791A>T (p.Glu1264Val) c.4613A>T (p.Glu1538Val) c.2645A>T (p.Glu882Val) c.1301A>T (p.Glu434Val) c.4660A>T c.5702A>T (p.Glu1901Val) c.5156A>T (p.Glu1719Val) c.4883A>T (p.Glu1628Val) n.284A>T c.1389A>T c.5429A>T (p.Glu1810Val) c.4610A>T (p.Glu1537Val) c.4064A>T (p.Glu1355Val) c.5978A>T (p.Glu1993Val) c.5705A>T (p.Glu1902Val) c.5159A>T (p.Glu1720Val) c.4886A>T (p.Glu1629Val) c.4337A>T (p.Glu1446Val) c.6251A>T (p.Glu2084Val) c.5975A>T (p.Glu1992Val) | |
9 | g.115035289T>C | CA374626555 | TNC | c.3791A>G (p.Glu1264Gly) c.4613A>G (p.Glu1538Gly) c.2645A>G (p.Glu882Gly) c.1301A>G (p.Glu434Gly) c.4660A>G c.5702A>G (p.Glu1901Gly) c.5156A>G (p.Glu1719Gly) c.4883A>G (p.Glu1628Gly) n.284A>G c.1389A>G c.5429A>G (p.Glu1810Gly) c.4610A>G (p.Glu1537Gly) c.4064A>G (p.Glu1355Gly) c.5978A>G (p.Glu1993Gly) c.5705A>G (p.Glu1902Gly) c.5159A>G (p.Glu1720Gly) c.4886A>G (p.Glu1629Gly) c.4337A>G (p.Glu1446Gly) c.6251A>G (p.Glu2084Gly) c.5975A>G (p.Glu1992Gly) | |
9 | g.115035289T>G | CA374626556 | TNC | c.3791A>C (p.Glu1264Ala) c.4613A>C (p.Glu1538Ala) c.2645A>C (p.Glu882Ala) c.1301A>C (p.Glu434Ala) c.4660A>C c.5702A>C (p.Glu1901Ala) c.5156A>C (p.Glu1719Ala) c.4883A>C (p.Glu1628Ala) n.284A>C c.1389A>C c.5429A>C (p.Glu1810Ala) c.4610A>C (p.Glu1537Ala) c.4064A>C (p.Glu1355Ala) c.5978A>C (p.Glu1993Ala) c.5705A>C (p.Glu1902Ala) c.5159A>C (p.Glu1720Ala) c.4886A>C (p.Glu1629Ala) c.4337A>C (p.Glu1446Ala) c.6251A>C (p.Glu2084Ala) c.5975A>C (p.Glu1992Ala) | |
9 | g.115035290C>A | CA374626557 | TNC | c.3790G>T (p.Glu1264Ter) c.4612G>T (p.Glu1538Ter) c.2644G>T (p.Glu882Ter) c.1300G>T (p.Glu434Ter) c.4659G>T c.5701G>T (p.Glu1901Ter) c.5155G>T (p.Glu1719Ter) c.4882G>T (p.Glu1628Ter) n.283G>T c.1388G>T c.5428G>T (p.Glu1810Ter) c.4609G>T (p.Glu1537Ter) c.4063G>T (p.Glu1355Ter) c.5977G>T (p.Glu1993Ter) c.5704G>T (p.Glu1902Ter) c.5158G>T (p.Glu1720Ter) c.4885G>T (p.Glu1629Ter) c.4336G>T (p.Glu1446Ter) c.6250G>T (p.Glu2084Ter) c.5974G>T (p.Glu1992Ter) | |
9 | g.115035290C>G | CA374626558 | TNC | c.3790G>C (p.Glu1264Gln) c.4612G>C (p.Glu1538Gln) c.2644G>C (p.Glu882Gln) c.1300G>C (p.Glu434Gln) c.4659G>C c.5701G>C (p.Glu1901Gln) c.5155G>C (p.Glu1719Gln) c.4882G>C (p.Glu1628Gln) n.283G>C c.1388G>C c.5428G>C (p.Glu1810Gln) c.4609G>C (p.Glu1537Gln) c.4063G>C (p.Glu1355Gln) c.5977G>C (p.Glu1993Gln) c.5704G>C (p.Glu1902Gln) c.5158G>C (p.Glu1720Gln) c.4885G>C (p.Glu1629Gln) c.4336G>C (p.Glu1446Gln) c.6250G>C (p.Glu2084Gln) c.5974G>C (p.Glu1992Gln) | |
9 | g.115035290C>T | CA374626559 | TNC | c.3790G>A (p.Glu1264Lys) c.4612G>A (p.Glu1538Lys) c.2644G>A (p.Glu882Lys) c.1300G>A (p.Glu434Lys) c.4659G>A c.5701G>A (p.Glu1901Lys) c.5155G>A (p.Glu1719Lys) c.4882G>A (p.Glu1628Lys) n.283G>A c.1388G>A c.5428G>A (p.Glu1810Lys) c.4609G>A (p.Glu1537Lys) c.4063G>A (p.Glu1355Lys) c.5977G>A (p.Glu1993Lys) c.5704G>A (p.Glu1902Lys) c.5158G>A (p.Glu1720Lys) c.4885G>A (p.Glu1629Lys) c.4336G>A (p.Glu1446Lys) c.6250G>A (p.Glu2084Lys) c.5974G>A (p.Glu1992Lys) | |
9 | g.115035291C>A | CA466790250 | TNC | c.3789G>T (p.Ser1263=) c.4611G>T (p.Ser1537=) c.2643G>T (p.Ser881=) c.1299G>T (p.Ser433=) c.4658G>T c.5700G>T (p.Ser1900=) c.5154G>T (p.Ser1718=) c.4881G>T (p.Ser1627=) n.282G>T c.1387G>T c.5427G>T (p.Ser1809=) c.4608G>T (p.Ser1536=) c.4062G>T (p.Ser1354=) c.5976G>T (p.Ser1992=) c.5703G>T (p.Ser1901=) c.5157G>T (p.Ser1719=) c.4884G>T (p.Ser1628=) c.4335G>T (p.Ser1445=) c.6249G>T (p.Ser2083=) c.5973G>T (p.Ser1991=) | |
9 | g.115035291C= | CA1874113762 | TNC | c.3789G= (p.Ser1263=) c.4611G= (p.Ser1537=) c.2643G= (p.Ser881=) c.1299G= (p.Ser433=) c.4658G= c.5700G= (p.Ser1900=) c.5154G= (p.Ser1718=) c.4881G= (p.Ser1627=) n.282G= c.1387G= c.5427G= (p.Ser1809=) c.4608G= (p.Ser1536=) c.4062G= (p.Ser1354=) c.5976G= (p.Ser1992=) c.5703G= (p.Ser1901=) c.5157G= (p.Ser1719=) c.4884G= (p.Ser1628=) c.4335G= (p.Ser1445=) c.6249G= (p.Ser2083=) c.5973G= (p.Ser1991=) | |
9 | g.115035291C>G | CA466790253 | TNC | c.3789G>C (p.Ser1263=) c.4611G>C (p.Ser1537=) c.2643G>C (p.Ser881=) c.1299G>C (p.Ser433=) c.4658G>C c.5700G>C (p.Ser1900=) c.5154G>C (p.Ser1718=) c.4881G>C (p.Ser1627=) n.282G>C c.1387G>C c.5427G>C (p.Ser1809=) c.4608G>C (p.Ser1536=) c.4062G>C (p.Ser1354=) c.5976G>C (p.Ser1992=) c.5703G>C (p.Ser1901=) c.5157G>C (p.Ser1719=) c.4884G>C (p.Ser1628=) c.4335G>C (p.Ser1445=) c.6249G>C (p.Ser2083=) c.5973G>C (p.Ser1991=) | |
9 | g.115035291C>T | CA5207560 | TNC | c.3789G>A (p.Ser1263=) c.4611G>A (p.Ser1537=) c.2643G>A (p.Ser881=) c.1299G>A (p.Ser433=) c.4658G>A c.5700G>A (p.Ser1900=) c.5154G>A (p.Ser1718=) c.4881G>A (p.Ser1627=) n.282G>A c.1387G>A c.5427G>A (p.Ser1809=) c.4608G>A (p.Ser1536=) c.4062G>A (p.Ser1354=) c.5976G>A (p.Ser1992=) c.5703G>A (p.Ser1901=) c.5157G>A (p.Ser1719=) c.4884G>A (p.Ser1628=) c.4335G>A (p.Ser1445=) c.6249G>A (p.Ser2083=) c.5973G>A (p.Ser1991=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035292G>A | CA5207562 | TNC | c.3788C>T (p.Ser1263Leu) c.4610C>T (p.Ser1537Leu) c.2642C>T (p.Ser881Leu) c.1298C>T (p.Ser433Leu) c.4657C>T c.5699C>T (p.Ser1900Leu) c.5153C>T (p.Ser1718Leu) c.4880C>T (p.Ser1627Leu) n.281C>T c.1386C>T c.5426C>T (p.Ser1809Leu) c.4607C>T (p.Ser1536Leu) c.4061C>T (p.Ser1354Leu) c.5975C>T (p.Ser1992Leu) c.5702C>T (p.Ser1901Leu) c.5156C>T (p.Ser1719Leu) c.4883C>T (p.Ser1628Leu) c.4334C>T (p.Ser1445Leu) c.6248C>T (p.Ser2083Leu) c.5972C>T (p.Ser1991Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035292G>C | CA374626560 | TNC | c.3788C>G (p.Ser1263Trp) c.4610C>G (p.Ser1537Trp) c.2642C>G (p.Ser881Trp) c.1298C>G (p.Ser433Trp) c.4657C>G c.5699C>G (p.Ser1900Trp) c.5153C>G (p.Ser1718Trp) c.4880C>G (p.Ser1627Trp) n.281C>G c.1386C>G c.5426C>G (p.Ser1809Trp) c.4607C>G (p.Ser1536Trp) c.4061C>G (p.Ser1354Trp) c.5975C>G (p.Ser1992Trp) c.5702C>G (p.Ser1901Trp) c.5156C>G (p.Ser1719Trp) c.4883C>G (p.Ser1628Trp) c.4334C>G (p.Ser1445Trp) c.6248C>G (p.Ser2083Trp) c.5972C>G (p.Ser1991Trp) | dbSNP |
9 | g.115035292G= | CA1874113763 | TNC | c.3788C= (p.Ser1263=) c.4610C= (p.Ser1537=) c.2642C= (p.Ser881=) c.1298C= (p.Ser433=) c.4657C= c.5699C= (p.Ser1900=) c.5153C= (p.Ser1718=) c.4880C= (p.Ser1627=) n.281C= c.1386C= c.5426C= (p.Ser1809=) c.4607C= (p.Ser1536=) c.4061C= (p.Ser1354=) c.5975C= (p.Ser1992=) c.5702C= (p.Ser1901=) c.5156C= (p.Ser1719=) c.4883C= (p.Ser1628=) c.4334C= (p.Ser1445=) c.6248C= (p.Ser2083=) c.5972C= (p.Ser1991=) | |
9 | g.115035292G>T | CA5207561 | TNC | c.3788C>A (p.Ser1263Ter) c.4610C>A (p.Ser1537Ter) c.2642C>A (p.Ser881Ter) c.1298C>A (p.Ser433Ter) c.4657C>A c.5699C>A (p.Ser1900Ter) c.5153C>A (p.Ser1718Ter) c.4880C>A (p.Ser1627Ter) n.281C>A c.1386C>A c.5426C>A (p.Ser1809Ter) c.4607C>A (p.Ser1536Ter) c.4061C>A (p.Ser1354Ter) c.5975C>A (p.Ser1992Ter) c.5702C>A (p.Ser1901Ter) c.5156C>A (p.Ser1719Ter) c.4883C>A (p.Ser1628Ter) c.4334C>A (p.Ser1445Ter) c.6248C>A (p.Ser2083Ter) c.5972C>A (p.Ser1991Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115035293A>C | CA374626563 | TNC | c.3787T>G (p.Ser1263Ala) c.4609T>G (p.Ser1537Ala) c.2641T>G (p.Ser881Ala) c.1297T>G (p.Ser433Ala) c.4656T>G c.5698T>G (p.Ser1900Ala) c.5152T>G (p.Ser1718Ala) c.4879T>G (p.Ser1627Ala) n.280T>G c.1385T>G c.5425T>G (p.Ser1809Ala) c.4606T>G (p.Ser1536Ala) c.4060T>G (p.Ser1354Ala) c.5974T>G (p.Ser1992Ala) c.5701T>G (p.Ser1901Ala) c.5155T>G (p.Ser1719Ala) c.4882T>G (p.Ser1628Ala) c.4333T>G (p.Ser1445Ala) c.6247T>G (p.Ser2083Ala) c.5971T>G (p.Ser1991Ala) | |
9 | g.115035293A>G | CA374626561 | TNC | c.3787T>C (p.Ser1263Pro) c.4609T>C (p.Ser1537Pro) c.2641T>C (p.Ser881Pro) c.1297T>C (p.Ser433Pro) c.4656T>C c.5698T>C (p.Ser1900Pro) c.5152T>C (p.Ser1718Pro) c.4879T>C (p.Ser1627Pro) n.280T>C c.1385T>C c.5425T>C (p.Ser1809Pro) c.4606T>C (p.Ser1536Pro) c.4060T>C (p.Ser1354Pro) c.5974T>C (p.Ser1992Pro) c.5701T>C (p.Ser1901Pro) c.5155T>C (p.Ser1719Pro) c.4882T>C (p.Ser1628Pro) c.4333T>C (p.Ser1445Pro) c.6247T>C (p.Ser2083Pro) c.5971T>C (p.Ser1991Pro) | |
9 | g.115035293A>T | CA374626562 | TNC | c.3787T>A (p.Ser1263Thr) c.4609T>A (p.Ser1537Thr) c.2641T>A (p.Ser881Thr) c.1297T>A (p.Ser433Thr) c.4656T>A c.5698T>A (p.Ser1900Thr) c.5152T>A (p.Ser1718Thr) c.4879T>A (p.Ser1627Thr) n.280T>A c.1385T>A c.5425T>A (p.Ser1809Thr) c.4606T>A (p.Ser1536Thr) c.4060T>A (p.Ser1354Thr) c.5974T>A (p.Ser1992Thr) c.5701T>A (p.Ser1901Thr) c.5155T>A (p.Ser1719Thr) c.4882T>A (p.Ser1628Thr) c.4333T>A (p.Ser1445Thr) c.6247T>A (p.Ser2083Thr) c.5971T>A (p.Ser1991Thr) | |
9 | g.115035294C>A | CA5207563 | TNC | c.3786G>T (p.Gln1262His) c.4608G>T (p.Gln1536His) c.2640G>T (p.Gln880His) c.1296G>T (p.Gln432His) c.4655G>T c.5697G>T (p.Gln1899His) c.5151G>T (p.Gln1717His) c.4878G>T (p.Gln1626His) n.279G>T c.1384G>T c.5424G>T (p.Gln1808His) c.4605G>T (p.Gln1535His) c.4059G>T (p.Gln1353His) c.5973G>T (p.Gln1991His) c.5700G>T (p.Gln1900His) c.5154G>T (p.Gln1718His) c.4881G>T (p.Gln1627His) c.4332G>T (p.Gln1444His) c.6246G>T (p.Gln2082His) c.5970G>T (p.Gln1990His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035294C= | CA1874113764 | TNC | c.3786G= (p.Gln1262=) c.4608G= (p.Gln1536=) c.2640G= (p.Gln880=) c.1296G= (p.Gln432=) c.4655G= c.5697G= (p.Gln1899=) c.5151G= (p.Gln1717=) c.4878G= (p.Gln1626=) n.279G= c.1384G= c.5424G= (p.Gln1808=) c.4605G= (p.Gln1535=) c.4059G= (p.Gln1353=) c.5973G= (p.Gln1991=) c.5700G= (p.Gln1900=) c.5154G= (p.Gln1718=) c.4881G= (p.Gln1627=) c.4332G= (p.Gln1444=) c.6246G= (p.Gln2082=) c.5970G= (p.Gln1990=) | |
9 | g.115035294C>G | CA374626564 | TNC | c.3786G>C (p.Gln1262His) c.4608G>C (p.Gln1536His) c.2640G>C (p.Gln880His) c.1296G>C (p.Gln432His) c.4655G>C c.5697G>C (p.Gln1899His) c.5151G>C (p.Gln1717His) c.4878G>C (p.Gln1626His) n.279G>C c.1384G>C c.5424G>C (p.Gln1808His) c.4605G>C (p.Gln1535His) c.4059G>C (p.Gln1353His) c.5973G>C (p.Gln1991His) c.5700G>C (p.Gln1900His) c.5154G>C (p.Gln1718His) c.4881G>C (p.Gln1627His) c.4332G>C (p.Gln1444His) c.6246G>C (p.Gln2082His) c.5970G>C (p.Gln1990His) | |
9 | g.115035294C>T | CA5207564 | TNC | c.3786G>A (p.Gln1262=) c.4608G>A (p.Gln1536=) c.2640G>A (p.Gln880=) c.1296G>A (p.Gln432=) c.4655G>A c.5697G>A (p.Gln1899=) c.5151G>A (p.Gln1717=) c.4878G>A (p.Gln1626=) n.279G>A c.1384G>A c.5424G>A (p.Gln1808=) c.4605G>A (p.Gln1535=) c.4059G>A (p.Gln1353=) c.5973G>A (p.Gln1991=) c.5700G>A (p.Gln1900=) c.5154G>A (p.Gln1718=) c.4881G>A (p.Gln1627=) c.4332G>A (p.Gln1444=) c.6246G>A (p.Gln2082=) c.5970G>A (p.Gln1990=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115035295T>A | CA5207565 | TNC | c.3785A>T (p.Gln1262Leu) c.4607A>T (p.Gln1536Leu) c.2639A>T (p.Gln880Leu) c.1295A>T (p.Gln432Leu) c.4654A>T c.5696A>T (p.Gln1899Leu) c.5150A>T (p.Gln1717Leu) c.4877A>T (p.Gln1626Leu) n.278A>T c.1383A>T c.5423A>T (p.Gln1808Leu) c.4604A>T (p.Gln1535Leu) c.4058A>T (p.Gln1353Leu) c.5972A>T (p.Gln1991Leu) c.5699A>T (p.Gln1900Leu) c.5153A>T (p.Gln1718Leu) c.4880A>T (p.Gln1627Leu) c.4331A>T (p.Gln1444Leu) c.6245A>T (p.Gln2082Leu) c.5969A>T (p.Gln1990Leu) | dbSNP ExAC gnomAD v2 |
9 | g.115035295T>C | CA374626566 | TNC | c.3785A>G (p.Gln1262Arg) c.4607A>G (p.Gln1536Arg) c.2639A>G (p.Gln880Arg) c.1295A>G (p.Gln432Arg) c.4654A>G c.5696A>G (p.Gln1899Arg) c.5150A>G (p.Gln1717Arg) c.4877A>G (p.Gln1626Arg) n.278A>G c.1383A>G c.5423A>G (p.Gln1808Arg) c.4604A>G (p.Gln1535Arg) c.4058A>G (p.Gln1353Arg) c.5972A>G (p.Gln1991Arg) c.5699A>G (p.Gln1900Arg) c.5153A>G (p.Gln1718Arg) c.4880A>G (p.Gln1627Arg) c.4331A>G (p.Gln1444Arg) c.6245A>G (p.Gln2082Arg) c.5969A>G (p.Gln1990Arg) | |
9 | g.115035295T>G | CA374626565 | TNC | c.3785A>C (p.Gln1262Pro) c.4607A>C (p.Gln1536Pro) c.2639A>C (p.Gln880Pro) c.1295A>C (p.Gln432Pro) c.4654A>C c.5696A>C (p.Gln1899Pro) c.5150A>C (p.Gln1717Pro) c.4877A>C (p.Gln1626Pro) n.278A>C c.1383A>C c.5423A>C (p.Gln1808Pro) c.4604A>C (p.Gln1535Pro) c.4058A>C (p.Gln1353Pro) c.5972A>C (p.Gln1991Pro) c.5699A>C (p.Gln1900Pro) c.5153A>C (p.Gln1718Pro) c.4880A>C (p.Gln1627Pro) c.4331A>C (p.Gln1444Pro) c.6245A>C (p.Gln2082Pro) c.5969A>C (p.Gln1990Pro) | |
9 | g.115035295T= | CA1874113765 | TNC | c.3785A= (p.Gln1262=) c.4607A= (p.Gln1536=) c.2639A= (p.Gln880=) c.1295A= (p.Gln432=) c.4654A= c.5696A= (p.Gln1899=) c.5150A= (p.Gln1717=) c.4877A= (p.Gln1626=) n.278A= c.1383A= c.5423A= (p.Gln1808=) c.4604A= (p.Gln1535=) c.4058A= (p.Gln1353=) c.5972A= (p.Gln1991=) c.5699A= (p.Gln1900=) c.5153A= (p.Gln1718=) c.4880A= (p.Gln1627=) c.4331A= (p.Gln1444=) c.6245A= (p.Gln2082=) c.5969A= (p.Gln1990=) | |
9 | g.115035296G>A | CA374626567 | TNC | c.3784C>T (p.Gln1262Ter) c.4606C>T (p.Gln1536Ter) c.2638C>T (p.Gln880Ter) c.1294C>T (p.Gln432Ter) c.4653C>T c.5695C>T (p.Gln1899Ter) c.5149C>T (p.Gln1717Ter) c.4876C>T (p.Gln1626Ter) n.277C>T c.1382C>T c.5422C>T (p.Gln1808Ter) c.4603C>T (p.Gln1535Ter) c.4057C>T (p.Gln1353Ter) c.5971C>T (p.Gln1991Ter) c.5698C>T (p.Gln1900Ter) c.5152C>T (p.Gln1718Ter) c.4879C>T (p.Gln1627Ter) c.4330C>T (p.Gln1444Ter) c.6244C>T (p.Gln2082Ter) c.5968C>T (p.Gln1990Ter) | |
9 | g.115035296G>C | CA374626568 | TNC | c.3784C>G (p.Gln1262Glu) c.4606C>G (p.Gln1536Glu) c.2638C>G (p.Gln880Glu) c.1294C>G (p.Gln432Glu) c.4653C>G c.5695C>G (p.Gln1899Glu) c.5149C>G (p.Gln1717Glu) c.4876C>G (p.Gln1626Glu) n.277C>G c.1382C>G c.5422C>G (p.Gln1808Glu) c.4603C>G (p.Gln1535Glu) c.4057C>G (p.Gln1353Glu) c.5971C>G (p.Gln1991Glu) c.5698C>G (p.Gln1900Glu) c.5152C>G (p.Gln1718Glu) c.4879C>G (p.Gln1627Glu) c.4330C>G (p.Gln1444Glu) c.6244C>G (p.Gln2082Glu) c.5968C>G (p.Gln1990Glu) | |
9 | g.115035296G>T | CA374626569 | TNC | c.3784C>A (p.Gln1262Lys) c.4606C>A (p.Gln1536Lys) c.2638C>A (p.Gln880Lys) c.1294C>A (p.Gln432Lys) c.4653C>A c.5695C>A (p.Gln1899Lys) c.5149C>A (p.Gln1717Lys) c.4876C>A (p.Gln1626Lys) n.277C>A c.1382C>A c.5422C>A (p.Gln1808Lys) c.4603C>A (p.Gln1535Lys) c.4057C>A (p.Gln1353Lys) c.5971C>A (p.Gln1991Lys) c.5698C>A (p.Gln1900Lys) c.5152C>A (p.Gln1718Lys) c.4879C>A (p.Gln1627Lys) c.4330C>A (p.Gln1444Lys) c.6244C>A (p.Gln2082Lys) c.5968C>A (p.Gln1990Lys) | |
9 | g.115035297A>C | CA466790283 | TNC | c.3783T>G (p.Val1261=) c.4605T>G (p.Val1535=) c.2637T>G (p.Val879=) c.1293T>G (p.Val431=) c.4652T>G c.5694T>G (p.Val1898=) c.5148T>G (p.Val1716=) c.4875T>G (p.Val1625=) n.276T>G c.1381T>G c.5421T>G (p.Val1807=) c.4602T>G (p.Val1534=) c.4056T>G (p.Val1352=) c.5970T>G (p.Val1990=) c.5697T>G (p.Val1899=) c.5151T>G (p.Val1717=) c.4878T>G (p.Val1626=) c.4329T>G (p.Val1443=) c.6243T>G (p.Val2081=) c.5967T>G (p.Val1989=) | |
9 | g.115035297A>G | CA466790284 | TNC | c.3783T>C (p.Val1261=) c.4605T>C (p.Val1535=) c.2637T>C (p.Val879=) c.1293T>C (p.Val431=) c.4652T>C c.5694T>C (p.Val1898=) c.5148T>C (p.Val1716=) c.4875T>C (p.Val1625=) n.276T>C c.1381T>C c.5421T>C (p.Val1807=) c.4602T>C (p.Val1534=) c.4056T>C (p.Val1352=) c.5970T>C (p.Val1990=) c.5697T>C (p.Val1899=) c.5151T>C (p.Val1717=) c.4878T>C (p.Val1626=) c.4329T>C (p.Val1443=) c.6243T>C (p.Val2081=) c.5967T>C (p.Val1989=) | |
9 | g.115035297A>T | CA466790285 | TNC | c.3783T>A (p.Val1261=) c.4605T>A (p.Val1535=) c.2637T>A (p.Val879=) c.1293T>A (p.Val431=) c.4652T>A c.5694T>A (p.Val1898=) c.5148T>A (p.Val1716=) c.4875T>A (p.Val1625=) n.276T>A c.1381T>A c.5421T>A (p.Val1807=) c.4602T>A (p.Val1534=) c.4056T>A (p.Val1352=) c.5970T>A (p.Val1990=) c.5697T>A (p.Val1899=) c.5151T>A (p.Val1717=) c.4878T>A (p.Val1626=) c.4329T>A (p.Val1443=) c.6243T>A (p.Val2081=) c.5967T>A (p.Val1989=) | |
9 | g.115035298A= | CA1874113766 | TNC | c.3782T= (p.Val1261=) c.4604T= (p.Val1535=) c.2636T= (p.Val879=) c.1292T= (p.Val431=) c.4651T= c.5693T= (p.Val1898=) c.5147T= (p.Val1716=) c.4874T= (p.Val1625=) n.275T= c.1380T= c.5420T= (p.Val1807=) c.4601T= (p.Val1534=) c.4055T= (p.Val1352=) c.5969T= (p.Val1990=) c.5696T= (p.Val1899=) c.5150T= (p.Val1717=) c.4877T= (p.Val1626=) c.4328T= (p.Val1443=) c.6242T= (p.Val2081=) c.5966T= (p.Val1989=) | |
9 | g.115035298A>C | CA374626570 | TNC | c.3782T>G (p.Val1261Gly) c.4604T>G (p.Val1535Gly) c.2636T>G (p.Val879Gly) c.1292T>G (p.Val431Gly) c.4651T>G c.5693T>G (p.Val1898Gly) c.5147T>G (p.Val1716Gly) c.4874T>G (p.Val1625Gly) n.275T>G c.1380T>G c.5420T>G (p.Val1807Gly) c.4601T>G (p.Val1534Gly) c.4055T>G (p.Val1352Gly) c.5969T>G (p.Val1990Gly) c.5696T>G (p.Val1899Gly) c.5150T>G (p.Val1717Gly) c.4877T>G (p.Val1626Gly) c.4328T>G (p.Val1443Gly) c.6242T>G (p.Val2081Gly) c.5966T>G (p.Val1989Gly) | |
9 | g.115035298A>G | CA374626571 | TNC | c.3782T>C (p.Val1261Ala) c.4604T>C (p.Val1535Ala) c.2636T>C (p.Val879Ala) c.1292T>C (p.Val431Ala) c.4651T>C c.5693T>C (p.Val1898Ala) c.5147T>C (p.Val1716Ala) c.4874T>C (p.Val1625Ala) n.275T>C c.1380T>C c.5420T>C (p.Val1807Ala) c.4601T>C (p.Val1534Ala) c.4055T>C (p.Val1352Ala) c.5969T>C (p.Val1990Ala) c.5696T>C (p.Val1899Ala) c.5150T>C (p.Val1717Ala) c.4877T>C (p.Val1626Ala) c.4328T>C (p.Val1443Ala) c.6242T>C (p.Val2081Ala) c.5966T>C (p.Val1989Ala) | |
9 | g.115035298A>T | CA374626572 | TNC | c.3782T>A (p.Val1261Asp) c.4604T>A (p.Val1535Asp) c.2636T>A (p.Val879Asp) c.1292T>A (p.Val431Asp) c.4651T>A c.5693T>A (p.Val1898Asp) c.5147T>A (p.Val1716Asp) c.4874T>A (p.Val1625Asp) n.275T>A c.1380T>A c.5420T>A (p.Val1807Asp) c.4601T>A (p.Val1534Asp) c.4055T>A (p.Val1352Asp) c.5969T>A (p.Val1990Asp) c.5696T>A (p.Val1899Asp) c.5150T>A (p.Val1717Asp) c.4877T>A (p.Val1626Asp) c.4328T>A (p.Val1443Asp) c.6242T>A (p.Val2081Asp) c.5966T>A (p.Val1989Asp) | dbSNP gnomAD v4 |
9 | g.115035299C>A | CA374626573 | TNC | c.3781G>T (p.Val1261Phe) c.4603G>T (p.Val1535Phe) c.2635G>T (p.Val879Phe) c.1291G>T (p.Val431Phe) c.4650G>T c.5692G>T (p.Val1898Phe) c.5146G>T (p.Val1716Phe) c.4873G>T (p.Val1625Phe) n.274G>T c.1379G>T c.5419G>T (p.Val1807Phe) c.4600G>T (p.Val1534Phe) c.4054G>T (p.Val1352Phe) c.5968G>T (p.Val1990Phe) c.5695G>T (p.Val1899Phe) c.5149G>T (p.Val1717Phe) c.4876G>T (p.Val1626Phe) c.4327G>T (p.Val1443Phe) c.6241G>T (p.Val2081Phe) c.5965G>T (p.Val1989Phe) | |
9 | g.115035299C>G | CA374626575 | TNC | c.3781G>C (p.Val1261Leu) c.4603G>C (p.Val1535Leu) c.2635G>C (p.Val879Leu) c.1291G>C (p.Val431Leu) c.4650G>C c.5692G>C (p.Val1898Leu) c.5146G>C (p.Val1716Leu) c.4873G>C (p.Val1625Leu) n.274G>C c.1379G>C c.5419G>C (p.Val1807Leu) c.4600G>C (p.Val1534Leu) c.4054G>C (p.Val1352Leu) c.5968G>C (p.Val1990Leu) c.5695G>C (p.Val1899Leu) c.5149G>C (p.Val1717Leu) c.4876G>C (p.Val1626Leu) c.4327G>C (p.Val1443Leu) c.6241G>C (p.Val2081Leu) c.5965G>C (p.Val1989Leu) | |
9 | g.115035299C>T | CA374626574 | TNC | c.3781G>A (p.Val1261Ile) c.4603G>A (p.Val1535Ile) c.2635G>A (p.Val879Ile) c.1291G>A (p.Val431Ile) c.4650G>A c.5692G>A (p.Val1898Ile) c.5146G>A (p.Val1716Ile) c.4873G>A (p.Val1625Ile) n.274G>A c.1379G>A c.5419G>A (p.Val1807Ile) c.4600G>A (p.Val1534Ile) c.4054G>A (p.Val1352Ile) c.5968G>A (p.Val1990Ile) c.5695G>A (p.Val1899Ile) c.5149G>A (p.Val1717Ile) c.4876G>A (p.Val1626Ile) c.4327G>A (p.Val1443Ile) c.6241G>A (p.Val2081Ile) c.5965G>A (p.Val1989Ile) | ClinVar gnomAD v4 COSMIC |
9 | g.115035300C>A | CA374626576 | TNC | c.3780G>T (p.Glu1260Asp) c.4602G>T (p.Glu1534Asp) c.2634G>T (p.Glu878Asp) c.1290G>T (p.Glu430Asp) c.4649G>T c.5691G>T (p.Glu1897Asp) c.5145G>T (p.Glu1715Asp) c.4872G>T (p.Glu1624Asp) n.273G>T c.1378G>T c.5418G>T (p.Glu1806Asp) c.4599G>T (p.Glu1533Asp) c.4053G>T (p.Glu1351Asp) c.5967G>T (p.Glu1989Asp) c.5694G>T (p.Glu1898Asp) c.5148G>T (p.Glu1716Asp) c.4875G>T (p.Glu1625Asp) c.4326G>T (p.Glu1442Asp) c.6240G>T (p.Glu2080Asp) c.5964G>T (p.Glu1988Asp) | |
9 | g.115035300C= | CA1874113767 | TNC | c.3780G= (p.Glu1260=) c.4602G= (p.Glu1534=) c.2634G= (p.Glu878=) c.1290G= (p.Glu430=) c.4649G= c.5691G= (p.Glu1897=) c.5145G= (p.Glu1715=) c.4872G= (p.Glu1624=) n.273G= c.1378G= c.5418G= (p.Glu1806=) c.4599G= (p.Glu1533=) c.4053G= (p.Glu1351=) c.5967G= (p.Glu1989=) c.5694G= (p.Glu1898=) c.5148G= (p.Glu1716=) c.4875G= (p.Glu1625=) c.4326G= (p.Glu1442=) c.6240G= (p.Glu2080=) c.5964G= (p.Glu1988=) | |
9 | g.115035300C>G | CA374626577 | TNC | c.3780G>C (p.Glu1260Asp) c.4602G>C (p.Glu1534Asp) c.2634G>C (p.Glu878Asp) c.1290G>C (p.Glu430Asp) c.4649G>C c.5691G>C (p.Glu1897Asp) c.5145G>C (p.Glu1715Asp) c.4872G>C (p.Glu1624Asp) n.273G>C c.1378G>C c.5418G>C (p.Glu1806Asp) c.4599G>C (p.Glu1533Asp) c.4053G>C (p.Glu1351Asp) c.5967G>C (p.Glu1989Asp) c.5694G>C (p.Glu1898Asp) c.5148G>C (p.Glu1716Asp) c.4875G>C (p.Glu1625Asp) c.4326G>C (p.Glu1442Asp) c.6240G>C (p.Glu2080Asp) c.5964G>C (p.Glu1988Asp) | COSMIC |
9 | g.115035300C>T | CA466790299 | TNC | c.3780G>A (p.Glu1260=) c.4602G>A (p.Glu1534=) c.2634G>A (p.Glu878=) c.1290G>A (p.Glu430=) c.4649G>A c.5691G>A (p.Glu1897=) c.5145G>A (p.Glu1715=) c.4872G>A (p.Glu1624=) n.273G>A c.1378G>A c.5418G>A (p.Glu1806=) c.4599G>A (p.Glu1533=) c.4053G>A (p.Glu1351=) c.5967G>A (p.Glu1989=) c.5694G>A (p.Glu1898=) c.5148G>A (p.Glu1716=) c.4875G>A (p.Glu1625=) c.4326G>A (p.Glu1442=) c.6240G>A (p.Glu2080=) c.5964G>A (p.Glu1988=) | dbSNP |
9 | g.115035301T>A | CA374626578 | TNC | c.3779A>T (p.Glu1260Val) c.4601A>T (p.Glu1534Val) c.2633A>T (p.Glu878Val) c.1289A>T (p.Glu430Val) c.4648A>T c.5690A>T (p.Glu1897Val) c.5144A>T (p.Glu1715Val) c.4871A>T (p.Glu1624Val) n.272A>T c.1377A>T c.5417A>T (p.Glu1806Val) c.4598A>T (p.Glu1533Val) c.4052A>T (p.Glu1351Val) c.5966A>T (p.Glu1989Val) c.5693A>T (p.Glu1898Val) c.5147A>T (p.Glu1716Val) c.4874A>T (p.Glu1625Val) c.4325A>T (p.Glu1442Val) c.6239A>T (p.Glu2080Val) c.5963A>T (p.Glu1988Val) | |
9 | g.115035301T>C | CA374626579 | TNC | c.3779A>G (p.Glu1260Gly) c.4601A>G (p.Glu1534Gly) c.2633A>G (p.Glu878Gly) c.1289A>G (p.Glu430Gly) c.4648A>G c.5690A>G (p.Glu1897Gly) c.5144A>G (p.Glu1715Gly) c.4871A>G (p.Glu1624Gly) n.272A>G c.1377A>G c.5417A>G (p.Glu1806Gly) c.4598A>G (p.Glu1533Gly) c.4052A>G (p.Glu1351Gly) c.5966A>G (p.Glu1989Gly) c.5693A>G (p.Glu1898Gly) c.5147A>G (p.Glu1716Gly) c.4874A>G (p.Glu1625Gly) c.4325A>G (p.Glu1442Gly) c.6239A>G (p.Glu2080Gly) c.5963A>G (p.Glu1988Gly) | |
9 | g.115035301T>G | CA374626580 | TNC | c.3779A>C (p.Glu1260Ala) c.4601A>C (p.Glu1534Ala) c.2633A>C (p.Glu878Ala) c.1289A>C (p.Glu430Ala) c.4648A>C c.5690A>C (p.Glu1897Ala) c.5144A>C (p.Glu1715Ala) c.4871A>C (p.Glu1624Ala) n.272A>C c.1377A>C c.5417A>C (p.Glu1806Ala) c.4598A>C (p.Glu1533Ala) c.4052A>C (p.Glu1351Ala) c.5966A>C (p.Glu1989Ala) c.5693A>C (p.Glu1898Ala) c.5147A>C (p.Glu1716Ala) c.4874A>C (p.Glu1625Ala) c.4325A>C (p.Glu1442Ala) c.6239A>C (p.Glu2080Ala) c.5963A>C (p.Glu1988Ala) | |
9 | g.115035302C>A | CA374626581 | TNC | c.3778G>T (p.Glu1260Ter) c.4600G>T (p.Glu1534Ter) c.2632G>T (p.Glu878Ter) c.1288G>T (p.Glu430Ter) c.4647G>T c.5689G>T (p.Glu1897Ter) c.5143G>T (p.Glu1715Ter) c.4870G>T (p.Glu1624Ter) n.271G>T c.1376G>T c.5416G>T (p.Glu1806Ter) c.4597G>T (p.Glu1533Ter) c.4051G>T (p.Glu1351Ter) c.5965G>T (p.Glu1989Ter) c.5692G>T (p.Glu1898Ter) c.5146G>T (p.Glu1716Ter) c.4873G>T (p.Glu1625Ter) c.4324G>T (p.Glu1442Ter) c.6238G>T (p.Glu2080Ter) c.5962G>T (p.Glu1988Ter) | |
9 | g.115035302C>G | CA374626582 | TNC | c.3778G>C (p.Glu1260Gln) c.4600G>C (p.Glu1534Gln) c.2632G>C (p.Glu878Gln) c.1288G>C (p.Glu430Gln) c.4647G>C c.5689G>C (p.Glu1897Gln) c.5143G>C (p.Glu1715Gln) c.4870G>C (p.Glu1624Gln) n.271G>C c.1376G>C c.5416G>C (p.Glu1806Gln) c.4597G>C (p.Glu1533Gln) c.4051G>C (p.Glu1351Gln) c.5965G>C (p.Glu1989Gln) c.5692G>C (p.Glu1898Gln) c.5146G>C (p.Glu1716Gln) c.4873G>C (p.Glu1625Gln) c.4324G>C (p.Glu1442Gln) c.6238G>C (p.Glu2080Gln) c.5962G>C (p.Glu1988Gln) | |
9 | g.115035302C>T | CA374626583 | TNC | c.3778G>A (p.Glu1260Lys) c.4600G>A (p.Glu1534Lys) c.2632G>A (p.Glu878Lys) c.1288G>A (p.Glu430Lys) c.4647G>A c.5689G>A (p.Glu1897Lys) c.5143G>A (p.Glu1715Lys) c.4870G>A (p.Glu1624Lys) n.271G>A c.1376G>A c.5416G>A (p.Glu1806Lys) c.4597G>A (p.Glu1533Lys) c.4051G>A (p.Glu1351Lys) c.5965G>A (p.Glu1989Lys) c.5692G>A (p.Glu1898Lys) c.5146G>A (p.Glu1716Lys) c.4873G>A (p.Glu1625Lys) c.4324G>A (p.Glu1442Lys) c.6238G>A (p.Glu2080Lys) c.5962G>A (p.Glu1988Lys) | COSMIC |
9 | g.115035303A= | CA1874113768 | TNC | c.3777T= (p.Thr1259=) c.4599T= (p.Thr1533=) c.2631T= (p.Thr877=) c.1287T= (p.Thr429=) c.4646T= c.5688T= (p.Thr1896=) c.5142T= (p.Thr1714=) c.4869T= (p.Thr1623=) n.270T= c.1375T= c.5415T= (p.Thr1805=) c.4596T= (p.Thr1532=) c.4050T= (p.Thr1350=) c.5964T= (p.Thr1988=) c.5691T= (p.Thr1897=) c.5145T= (p.Thr1715=) c.4872T= (p.Thr1624=) c.4323T= (p.Thr1441=) c.6237T= (p.Thr2079=) c.5961T= (p.Thr1987=) | |
9 | g.115035303A>C | CA466790314 | TNC | c.3777T>G (p.Thr1259=) c.4599T>G (p.Thr1533=) c.2631T>G (p.Thr877=) c.1287T>G (p.Thr429=) c.4646T>G c.5688T>G (p.Thr1896=) c.5142T>G (p.Thr1714=) c.4869T>G (p.Thr1623=) n.270T>G c.1375T>G c.5415T>G (p.Thr1805=) c.4596T>G (p.Thr1532=) c.4050T>G (p.Thr1350=) c.5964T>G (p.Thr1988=) c.5691T>G (p.Thr1897=) c.5145T>G (p.Thr1715=) c.4872T>G (p.Thr1624=) c.4323T>G (p.Thr1441=) c.6237T>G (p.Thr2079=) c.5961T>G (p.Thr1987=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115035303A>G | CA466790316 | TNC | c.3777T>C (p.Thr1259=) c.4599T>C (p.Thr1533=) c.2631T>C (p.Thr877=) c.1287T>C (p.Thr429=) c.4646T>C c.5688T>C (p.Thr1896=) c.5142T>C (p.Thr1714=) c.4869T>C (p.Thr1623=) n.270T>C c.1375T>C c.5415T>C (p.Thr1805=) c.4596T>C (p.Thr1532=) c.4050T>C (p.Thr1350=) c.5964T>C (p.Thr1988=) c.5691T>C (p.Thr1897=) c.5145T>C (p.Thr1715=) c.4872T>C (p.Thr1624=) c.4323T>C (p.Thr1441=) c.6237T>C (p.Thr2079=) c.5961T>C (p.Thr1987=) | dbSNP |
9 | g.115035303A>T | CA466790318 | TNC | c.3777T>A (p.Thr1259=) c.4599T>A (p.Thr1533=) c.2631T>A (p.Thr877=) c.1287T>A (p.Thr429=) c.4646T>A c.5688T>A (p.Thr1896=) c.5142T>A (p.Thr1714=) c.4869T>A (p.Thr1623=) n.270T>A c.1375T>A c.5415T>A (p.Thr1805=) c.4596T>A (p.Thr1532=) c.4050T>A (p.Thr1350=) c.5964T>A (p.Thr1988=) c.5691T>A (p.Thr1897=) c.5145T>A (p.Thr1715=) c.4872T>A (p.Thr1624=) c.4323T>A (p.Thr1441=) c.6237T>A (p.Thr2079=) c.5961T>A (p.Thr1987=) | |
9 | g.115035304G>A | CA374626584 | TNC | c.3776C>T (p.Thr1259Ile) c.4598C>T (p.Thr1533Ile) c.2630C>T (p.Thr877Ile) c.1286C>T (p.Thr429Ile) c.4645C>T c.5687C>T (p.Thr1896Ile) c.5141C>T (p.Thr1714Ile) c.4868C>T (p.Thr1623Ile) n.269C>T c.1374C>T c.5414C>T (p.Thr1805Ile) c.4595C>T (p.Thr1532Ile) c.4049C>T (p.Thr1350Ile) c.5963C>T (p.Thr1988Ile) c.5690C>T (p.Thr1897Ile) c.5144C>T (p.Thr1715Ile) c.4871C>T (p.Thr1624Ile) c.4322C>T (p.Thr1441Ile) c.6236C>T (p.Thr2079Ile) c.5960C>T (p.Thr1987Ile) | |
9 | g.115035304G>C | CA374626585 | TNC | c.3776C>G (p.Thr1259Ser) c.4598C>G (p.Thr1533Ser) c.2630C>G (p.Thr877Ser) c.1286C>G (p.Thr429Ser) c.4645C>G c.5687C>G (p.Thr1896Ser) c.5141C>G (p.Thr1714Ser) c.4868C>G (p.Thr1623Ser) n.269C>G c.1374C>G c.5414C>G (p.Thr1805Ser) c.4595C>G (p.Thr1532Ser) c.4049C>G (p.Thr1350Ser) c.5963C>G (p.Thr1988Ser) c.5690C>G (p.Thr1897Ser) c.5144C>G (p.Thr1715Ser) c.4871C>G (p.Thr1624Ser) c.4322C>G (p.Thr1441Ser) c.6236C>G (p.Thr2079Ser) c.5960C>G (p.Thr1987Ser) | |
9 | g.115035304G>T | CA374626586 | TNC | c.3776C>A (p.Thr1259Asn) c.4598C>A (p.Thr1533Asn) c.2630C>A (p.Thr877Asn) c.1286C>A (p.Thr429Asn) c.4645C>A c.5687C>A (p.Thr1896Asn) c.5141C>A (p.Thr1714Asn) c.4868C>A (p.Thr1623Asn) n.269C>A c.1374C>A c.5414C>A (p.Thr1805Asn) c.4595C>A (p.Thr1532Asn) c.4049C>A (p.Thr1350Asn) c.5963C>A (p.Thr1988Asn) c.5690C>A (p.Thr1897Asn) c.5144C>A (p.Thr1715Asn) c.4871C>A (p.Thr1624Asn) c.4322C>A (p.Thr1441Asn) c.6236C>A (p.Thr2079Asn) c.5960C>A (p.Thr1987Asn) | gnomAD v4 |
9 | g.115035305T>A | CA374626588 | TNC | c.3775A>T (p.Thr1259Ser) c.4597A>T (p.Thr1533Ser) c.2629A>T (p.Thr877Ser) c.1285A>T (p.Thr429Ser) c.4644A>T c.5686A>T (p.Thr1896Ser) c.5140A>T (p.Thr1714Ser) c.4867A>T (p.Thr1623Ser) n.268A>T c.1373A>T c.5413A>T (p.Thr1805Ser) c.4594A>T (p.Thr1532Ser) c.4048A>T (p.Thr1350Ser) c.5962A>T (p.Thr1988Ser) c.5689A>T (p.Thr1897Ser) c.5143A>T (p.Thr1715Ser) c.4870A>T (p.Thr1624Ser) c.4321A>T (p.Thr1441Ser) c.6235A>T (p.Thr2079Ser) c.5959A>T (p.Thr1987Ser) | |
9 | g.115035305T>C | CA374626589 | TNC | c.3775A>G (p.Thr1259Ala) c.4597A>G (p.Thr1533Ala) c.2629A>G (p.Thr877Ala) c.1285A>G (p.Thr429Ala) c.4644A>G c.5686A>G (p.Thr1896Ala) c.5140A>G (p.Thr1714Ala) c.4867A>G (p.Thr1623Ala) n.268A>G c.1373A>G c.5413A>G (p.Thr1805Ala) c.4594A>G (p.Thr1532Ala) c.4048A>G (p.Thr1350Ala) c.5962A>G (p.Thr1988Ala) c.5689A>G (p.Thr1897Ala) c.5143A>G (p.Thr1715Ala) c.4870A>G (p.Thr1624Ala) c.4321A>G (p.Thr1441Ala) c.6235A>G (p.Thr2079Ala) c.5959A>G (p.Thr1987Ala) | |
9 | g.115035305T>G | CA374626587 | TNC | c.3775A>C (p.Thr1259Pro) c.4597A>C (p.Thr1533Pro) c.2629A>C (p.Thr877Pro) c.1285A>C (p.Thr429Pro) c.4644A>C c.5686A>C (p.Thr1896Pro) c.5140A>C (p.Thr1714Pro) c.4867A>C (p.Thr1623Pro) n.268A>C c.1373A>C c.5413A>C (p.Thr1805Pro) c.4594A>C (p.Thr1532Pro) c.4048A>C (p.Thr1350Pro) c.5962A>C (p.Thr1988Pro) c.5689A>C (p.Thr1897Pro) c.5143A>C (p.Thr1715Pro) c.4870A>C (p.Thr1624Pro) c.4321A>C (p.Thr1441Pro) c.6235A>C (p.Thr2079Pro) c.5959A>C (p.Thr1987Pro) | |
9 | g.115035306A= | CA1874113769 | TNC | c.3774T= (p.Ala1258=) c.4596T= (p.Ala1532=) c.2628T= (p.Ala876=) c.1284T= (p.Ala428=) c.4643T= c.5685T= (p.Ala1895=) c.5139T= (p.Ala1713=) c.4866T= (p.Ala1622=) n.267T= c.1372T= c.5412T= (p.Ala1804=) c.4593T= (p.Ala1531=) c.4047T= (p.Ala1349=) c.5961T= (p.Ala1987=) c.5688T= (p.Ala1896=) c.5142T= (p.Ala1714=) c.4869T= (p.Ala1623=) c.4320T= (p.Ala1440=) c.6234T= (p.Ala2078=) c.5958T= (p.Ala1986=) | |
9 | g.115035306A>C | CA466790331 | TNC | c.3774T>G (p.Ala1258=) c.4596T>G (p.Ala1532=) c.2628T>G (p.Ala876=) c.1284T>G (p.Ala428=) c.4643T>G c.5685T>G (p.Ala1895=) c.5139T>G (p.Ala1713=) c.4866T>G (p.Ala1622=) n.267T>G c.1372T>G c.5412T>G (p.Ala1804=) c.4593T>G (p.Ala1531=) c.4047T>G (p.Ala1349=) c.5961T>G (p.Ala1987=) c.5688T>G (p.Ala1896=) c.5142T>G (p.Ala1714=) c.4869T>G (p.Ala1623=) c.4320T>G (p.Ala1440=) c.6234T>G (p.Ala2078=) c.5958T>G (p.Ala1986=) | |
9 | g.115035306A>G | CA5207566 | TNC | c.3774T>C (p.Ala1258=) c.4596T>C (p.Ala1532=) c.2628T>C (p.Ala876=) c.1284T>C (p.Ala428=) c.4643T>C c.5685T>C (p.Ala1895=) c.5139T>C (p.Ala1713=) c.4866T>C (p.Ala1622=) n.267T>C c.1372T>C c.5412T>C (p.Ala1804=) c.4593T>C (p.Ala1531=) c.4047T>C (p.Ala1349=) c.5961T>C (p.Ala1987=) c.5688T>C (p.Ala1896=) c.5142T>C (p.Ala1714=) c.4869T>C (p.Ala1623=) c.4320T>C (p.Ala1440=) c.6234T>C (p.Ala2078=) c.5958T>C (p.Ala1986=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035306A>T | CA466790335 | TNC | c.3774T>A (p.Ala1258=) c.4596T>A (p.Ala1532=) c.2628T>A (p.Ala876=) c.1284T>A (p.Ala428=) c.4643T>A c.5685T>A (p.Ala1895=) c.5139T>A (p.Ala1713=) c.4866T>A (p.Ala1622=) n.267T>A c.1372T>A c.5412T>A (p.Ala1804=) c.4593T>A (p.Ala1531=) c.4047T>A (p.Ala1349=) c.5961T>A (p.Ala1987=) c.5688T>A (p.Ala1896=) c.5142T>A (p.Ala1714=) c.4869T>A (p.Ala1623=) c.4320T>A (p.Ala1440=) c.6234T>A (p.Ala2078=) c.5958T>A (p.Ala1986=) | |
9 | g.115035307G>A | CA374626592 | TNC | c.3773C>T (p.Ala1258Val) c.4595C>T (p.Ala1532Val) c.2627C>T (p.Ala876Val) c.1283C>T (p.Ala428Val) c.4642C>T c.5684C>T (p.Ala1895Val) c.5138C>T (p.Ala1713Val) c.4865C>T (p.Ala1622Val) n.266C>T c.1371C>T c.5411C>T (p.Ala1804Val) c.4592C>T (p.Ala1531Val) c.4046C>T (p.Ala1349Val) c.5960C>T (p.Ala1987Val) c.5687C>T (p.Ala1896Val) c.5141C>T (p.Ala1714Val) c.4868C>T (p.Ala1623Val) c.4319C>T (p.Ala1440Val) c.6233C>T (p.Ala2078Val) c.5957C>T (p.Ala1986Val) | |
9 | g.115035307G>C | CA374626590 | TNC | c.3773C>G (p.Ala1258Gly) c.4595C>G (p.Ala1532Gly) c.2627C>G (p.Ala876Gly) c.1283C>G (p.Ala428Gly) c.4642C>G c.5684C>G (p.Ala1895Gly) c.5138C>G (p.Ala1713Gly) c.4865C>G (p.Ala1622Gly) n.266C>G c.1371C>G c.5411C>G (p.Ala1804Gly) c.4592C>G (p.Ala1531Gly) c.4046C>G (p.Ala1349Gly) c.5960C>G (p.Ala1987Gly) c.5687C>G (p.Ala1896Gly) c.5141C>G (p.Ala1714Gly) c.4868C>G (p.Ala1623Gly) c.4319C>G (p.Ala1440Gly) c.6233C>G (p.Ala2078Gly) c.5957C>G (p.Ala1986Gly) | |
9 | g.115035307G>T | CA374626591 | TNC | c.3773C>A (p.Ala1258Asp) c.4595C>A (p.Ala1532Asp) c.2627C>A (p.Ala876Asp) c.1283C>A (p.Ala428Asp) c.4642C>A c.5684C>A (p.Ala1895Asp) c.5138C>A (p.Ala1713Asp) c.4865C>A (p.Ala1622Asp) n.266C>A c.1371C>A c.5411C>A (p.Ala1804Asp) c.4592C>A (p.Ala1531Asp) c.4046C>A (p.Ala1349Asp) c.5960C>A (p.Ala1987Asp) c.5687C>A (p.Ala1896Asp) c.5141C>A (p.Ala1714Asp) c.4868C>A (p.Ala1623Asp) c.4319C>A (p.Ala1440Asp) c.6233C>A (p.Ala2078Asp) c.5957C>A (p.Ala1986Asp) | gnomAD v4 |
9 | g.115035308C>A | CA374626593 | TNC | c.3772G>T (p.Ala1258Ser) c.4594G>T (p.Ala1532Ser) c.2626G>T (p.Ala876Ser) c.1282G>T (p.Ala428Ser) c.4641G>T c.5683G>T (p.Ala1895Ser) c.5137G>T (p.Ala1713Ser) c.4864G>T (p.Ala1622Ser) n.265G>T c.1370G>T c.5410G>T (p.Ala1804Ser) c.4591G>T (p.Ala1531Ser) c.4045G>T (p.Ala1349Ser) c.5959G>T (p.Ala1987Ser) c.5686G>T (p.Ala1896Ser) c.5140G>T (p.Ala1714Ser) c.4867G>T (p.Ala1623Ser) c.4318G>T (p.Ala1440Ser) c.6232G>T (p.Ala2078Ser) c.5956G>T (p.Ala1986Ser) | |
9 | g.115035308C>G | CA374626594 | TNC | c.3772G>C (p.Ala1258Pro) c.4594G>C (p.Ala1532Pro) c.2626G>C (p.Ala876Pro) c.1282G>C (p.Ala428Pro) c.4641G>C c.5683G>C (p.Ala1895Pro) c.5137G>C (p.Ala1713Pro) c.4864G>C (p.Ala1622Pro) n.265G>C c.1370G>C c.5410G>C (p.Ala1804Pro) c.4591G>C (p.Ala1531Pro) c.4045G>C (p.Ala1349Pro) c.5959G>C (p.Ala1987Pro) c.5686G>C (p.Ala1896Pro) c.5140G>C (p.Ala1714Pro) c.4867G>C (p.Ala1623Pro) c.4318G>C (p.Ala1440Pro) c.6232G>C (p.Ala2078Pro) c.5956G>C (p.Ala1986Pro) | |
9 | g.115035308C>T | CA374626595 | TNC | c.3772G>A (p.Ala1258Thr) c.4594G>A (p.Ala1532Thr) c.2626G>A (p.Ala876Thr) c.1282G>A (p.Ala428Thr) c.4641G>A c.5683G>A (p.Ala1895Thr) c.5137G>A (p.Ala1713Thr) c.4864G>A (p.Ala1622Thr) n.265G>A c.1370G>A c.5410G>A (p.Ala1804Thr) c.4591G>A (p.Ala1531Thr) c.4045G>A (p.Ala1349Thr) c.5959G>A (p.Ala1987Thr) c.5686G>A (p.Ala1896Thr) c.5140G>A (p.Ala1714Thr) c.4867G>A (p.Ala1623Thr) c.4318G>A (p.Ala1440Thr) c.6232G>A (p.Ala2078Thr) c.5956G>A (p.Ala1986Thr) | |
9 | g.115035309A>C | CA466790353 | TNC | c.3771T>G (p.Thr1257=) c.4593T>G (p.Thr1531=) c.2625T>G (p.Thr875=) c.1281T>G (p.Thr427=) c.4640T>G c.5682T>G (p.Thr1894=) c.5136T>G (p.Thr1712=) c.4863T>G (p.Thr1621=) n.264T>G c.1369T>G c.5409T>G (p.Thr1803=) c.4590T>G (p.Thr1530=) c.4044T>G (p.Thr1348=) c.5958T>G (p.Thr1986=) c.5685T>G (p.Thr1895=) c.5139T>G (p.Thr1713=) c.4866T>G (p.Thr1622=) c.4317T>G (p.Thr1439=) c.6231T>G (p.Thr2077=) c.5955T>G (p.Thr1985=) | |
9 | g.115035309A>G | CA466790355 | TNC | c.3771T>C (p.Thr1257=) c.4593T>C (p.Thr1531=) c.2625T>C (p.Thr875=) c.1281T>C (p.Thr427=) c.4640T>C c.5682T>C (p.Thr1894=) c.5136T>C (p.Thr1712=) c.4863T>C (p.Thr1621=) n.264T>C c.1369T>C c.5409T>C (p.Thr1803=) c.4590T>C (p.Thr1530=) c.4044T>C (p.Thr1348=) c.5958T>C (p.Thr1986=) c.5685T>C (p.Thr1895=) c.5139T>C (p.Thr1713=) c.4866T>C (p.Thr1622=) c.4317T>C (p.Thr1439=) c.6231T>C (p.Thr2077=) c.5955T>C (p.Thr1985=) | dbSNP |
9 | g.115035309A>T | CA466790358 | TNC | c.3771T>A (p.Thr1257=) c.4593T>A (p.Thr1531=) c.2625T>A (p.Thr875=) c.1281T>A (p.Thr427=) c.4640T>A c.5682T>A (p.Thr1894=) c.5136T>A (p.Thr1712=) c.4863T>A (p.Thr1621=) n.264T>A c.1369T>A c.5409T>A (p.Thr1803=) c.4590T>A (p.Thr1530=) c.4044T>A (p.Thr1348=) c.5958T>A (p.Thr1986=) c.5685T>A (p.Thr1895=) c.5139T>A (p.Thr1713=) c.4866T>A (p.Thr1622=) c.4317T>A (p.Thr1439=) c.6231T>A (p.Thr2077=) c.5955T>A (p.Thr1985=) | |
9 | g.115035310G>A | CA374626596 | TNC | c.3770C>T (p.Thr1257Ile) c.4592C>T (p.Thr1531Ile) c.2624C>T (p.Thr875Ile) c.1280C>T (p.Thr427Ile) c.4639C>T c.5681C>T (p.Thr1894Ile) c.5135C>T (p.Thr1712Ile) c.4862C>T (p.Thr1621Ile) n.263C>T c.1368C>T c.5408C>T (p.Thr1803Ile) c.4589C>T (p.Thr1530Ile) c.4043C>T (p.Thr1348Ile) c.5957C>T (p.Thr1986Ile) c.5684C>T (p.Thr1895Ile) c.5138C>T (p.Thr1713Ile) c.4865C>T (p.Thr1622Ile) c.4316C>T (p.Thr1439Ile) c.6230C>T (p.Thr2077Ile) c.5954C>T (p.Thr1985Ile) | |
9 | g.115035310G>C | CA374626597 | TNC | c.3770C>G (p.Thr1257Ser) c.4592C>G (p.Thr1531Ser) c.2624C>G (p.Thr875Ser) c.1280C>G (p.Thr427Ser) c.4639C>G c.5681C>G (p.Thr1894Ser) c.5135C>G (p.Thr1712Ser) c.4862C>G (p.Thr1621Ser) n.263C>G c.1368C>G c.5408C>G (p.Thr1803Ser) c.4589C>G (p.Thr1530Ser) c.4043C>G (p.Thr1348Ser) c.5957C>G (p.Thr1986Ser) c.5684C>G (p.Thr1895Ser) c.5138C>G (p.Thr1713Ser) c.4865C>G (p.Thr1622Ser) c.4316C>G (p.Thr1439Ser) c.6230C>G (p.Thr2077Ser) c.5954C>G (p.Thr1985Ser) | dbSNP |
9 | g.115035310G= | CA1874113770 | TNC | c.3770C= (p.Thr1257=) c.4592C= (p.Thr1531=) c.2624C= (p.Thr875=) c.1280C= (p.Thr427=) c.4639C= c.5681C= (p.Thr1894=) c.5135C= (p.Thr1712=) c.4862C= (p.Thr1621=) n.263C= c.1368C= c.5408C= (p.Thr1803=) c.4589C= (p.Thr1530=) c.4043C= (p.Thr1348=) c.5957C= (p.Thr1986=) c.5684C= (p.Thr1895=) c.5138C= (p.Thr1713=) c.4865C= (p.Thr1622=) c.4316C= (p.Thr1439=) c.6230C= (p.Thr2077=) c.5954C= (p.Thr1985=) | |
9 | g.115035310G>T | CA374626598 | TNC | c.3770C>A (p.Thr1257Asn) c.4592C>A (p.Thr1531Asn) c.2624C>A (p.Thr875Asn) c.1280C>A (p.Thr427Asn) c.4639C>A c.5681C>A (p.Thr1894Asn) c.5135C>A (p.Thr1712Asn) c.4862C>A (p.Thr1621Asn) n.263C>A c.1368C>A c.5408C>A (p.Thr1803Asn) c.4589C>A (p.Thr1530Asn) c.4043C>A (p.Thr1348Asn) c.5957C>A (p.Thr1986Asn) c.5684C>A (p.Thr1895Asn) c.5138C>A (p.Thr1713Asn) c.4865C>A (p.Thr1622Asn) c.4316C>A (p.Thr1439Asn) c.6230C>A (p.Thr2077Asn) c.5954C>A (p.Thr1985Asn) | |
9 | g.115035311T>A | CA374626599 | TNC | c.3769A>T (p.Thr1257Ser) c.4591A>T (p.Thr1531Ser) c.2623A>T (p.Thr875Ser) c.1279A>T (p.Thr427Ser) c.4638A>T c.5680A>T (p.Thr1894Ser) c.5134A>T (p.Thr1712Ser) c.4861A>T (p.Thr1621Ser) n.262A>T c.1367A>T c.5407A>T (p.Thr1803Ser) c.4588A>T (p.Thr1530Ser) c.4042A>T (p.Thr1348Ser) c.5956A>T (p.Thr1986Ser) c.5683A>T (p.Thr1895Ser) c.5137A>T (p.Thr1713Ser) c.4864A>T (p.Thr1622Ser) c.4315A>T (p.Thr1439Ser) c.6229A>T (p.Thr2077Ser) c.5953A>T (p.Thr1985Ser) | |
9 | g.115035311T>C | CA374626600 | TNC | c.3769A>G (p.Thr1257Ala) c.4591A>G (p.Thr1531Ala) c.2623A>G (p.Thr875Ala) c.1279A>G (p.Thr427Ala) c.4638A>G c.5680A>G (p.Thr1894Ala) c.5134A>G (p.Thr1712Ala) c.4861A>G (p.Thr1621Ala) n.262A>G c.1367A>G c.5407A>G (p.Thr1803Ala) c.4588A>G (p.Thr1530Ala) c.4042A>G (p.Thr1348Ala) c.5956A>G (p.Thr1986Ala) c.5683A>G (p.Thr1895Ala) c.5137A>G (p.Thr1713Ala) c.4864A>G (p.Thr1622Ala) c.4315A>G (p.Thr1439Ala) c.6229A>G (p.Thr2077Ala) c.5953A>G (p.Thr1985Ala) | |
9 | g.115035311T>G | CA374626601 | TNC | c.3769A>C (p.Thr1257Pro) c.4591A>C (p.Thr1531Pro) c.2623A>C (p.Thr875Pro) c.1279A>C (p.Thr427Pro) c.4638A>C c.5680A>C (p.Thr1894Pro) c.5134A>C (p.Thr1712Pro) c.4861A>C (p.Thr1621Pro) n.262A>C c.1367A>C c.5407A>C (p.Thr1803Pro) c.4588A>C (p.Thr1530Pro) c.4042A>C (p.Thr1348Pro) c.5956A>C (p.Thr1986Pro) c.5683A>C (p.Thr1895Pro) c.5137A>C (p.Thr1713Pro) c.4864A>C (p.Thr1622Pro) c.4315A>C (p.Thr1439Pro) c.6229A>C (p.Thr2077Pro) c.5953A>C (p.Thr1985Pro) | |
9 | g.115035312C>A | CA374626602 | TNC | c.3768G>T (p.Leu1256Phe) c.4590G>T (p.Leu1530Phe) c.2622G>T (p.Leu874Phe) c.1278G>T (p.Leu426Phe) c.4637G>T c.5679G>T (p.Leu1893Phe) c.5133G>T (p.Leu1711Phe) c.4860G>T (p.Leu1620Phe) n.261G>T c.1366G>T c.5406G>T (p.Leu1802Phe) c.4587G>T (p.Leu1529Phe) c.4041G>T (p.Leu1347Phe) c.5955G>T (p.Leu1985Phe) c.5682G>T (p.Leu1894Phe) c.5136G>T (p.Leu1712Phe) c.4863G>T (p.Leu1621Phe) c.4314G>T (p.Leu1438Phe) c.6228G>T (p.Leu2076Phe) c.5952G>T (p.Leu1984Phe) | |
9 | g.115035312C>G | CA374626603 | TNC | c.3768G>C (p.Leu1256Phe) c.4590G>C (p.Leu1530Phe) c.2622G>C (p.Leu874Phe) c.1278G>C (p.Leu426Phe) c.4637G>C c.5679G>C (p.Leu1893Phe) c.5133G>C (p.Leu1711Phe) c.4860G>C (p.Leu1620Phe) n.261G>C c.1366G>C c.5406G>C (p.Leu1802Phe) c.4587G>C (p.Leu1529Phe) c.4041G>C (p.Leu1347Phe) c.5955G>C (p.Leu1985Phe) c.5682G>C (p.Leu1894Phe) c.5136G>C (p.Leu1712Phe) c.4863G>C (p.Leu1621Phe) c.4314G>C (p.Leu1438Phe) c.6228G>C (p.Leu2076Phe) c.5952G>C (p.Leu1984Phe) | |
9 | g.115035312C>T | CA466790371 | TNC | c.3768G>A (p.Leu1256=) c.4590G>A (p.Leu1530=) c.2622G>A (p.Leu874=) c.1278G>A (p.Leu426=) c.4637G>A c.5679G>A (p.Leu1893=) c.5133G>A (p.Leu1711=) c.4860G>A (p.Leu1620=) n.261G>A c.1366G>A c.5406G>A (p.Leu1802=) c.4587G>A (p.Leu1529=) c.4041G>A (p.Leu1347=) c.5955G>A (p.Leu1985=) c.5682G>A (p.Leu1894=) c.5136G>A (p.Leu1712=) c.4863G>A (p.Leu1621=) c.4314G>A (p.Leu1438=) c.6228G>A (p.Leu2076=) c.5952G>A (p.Leu1984=) | |
9 | g.115035313A>C | CA374626604 | TNC | c.3767T>G (p.Leu1256Trp) c.4589T>G (p.Leu1530Trp) c.2621T>G (p.Leu874Trp) c.1277T>G (p.Leu426Trp) c.4636T>G c.5678T>G (p.Leu1893Trp) c.5132T>G (p.Leu1711Trp) c.4859T>G (p.Leu1620Trp) n.260T>G c.1365T>G c.5405T>G (p.Leu1802Trp) c.4586T>G (p.Leu1529Trp) c.4040T>G (p.Leu1347Trp) c.5954T>G (p.Leu1985Trp) c.5681T>G (p.Leu1894Trp) c.5135T>G (p.Leu1712Trp) c.4862T>G (p.Leu1621Trp) c.4313T>G (p.Leu1438Trp) c.6227T>G (p.Leu2076Trp) c.5951T>G (p.Leu1984Trp) | |
9 | g.115035313A>G | CA374626606 | TNC | c.3767T>C (p.Leu1256Ser) c.4589T>C (p.Leu1530Ser) c.2621T>C (p.Leu874Ser) c.1277T>C (p.Leu426Ser) c.4636T>C c.5678T>C (p.Leu1893Ser) c.5132T>C (p.Leu1711Ser) c.4859T>C (p.Leu1620Ser) n.260T>C c.1365T>C c.5405T>C (p.Leu1802Ser) c.4586T>C (p.Leu1529Ser) c.4040T>C (p.Leu1347Ser) c.5954T>C (p.Leu1985Ser) c.5681T>C (p.Leu1894Ser) c.5135T>C (p.Leu1712Ser) c.4862T>C (p.Leu1621Ser) c.4313T>C (p.Leu1438Ser) c.6227T>C (p.Leu2076Ser) c.5951T>C (p.Leu1984Ser) | |
9 | g.115035313A>T | CA374626605 | TNC | c.3767T>A (p.Leu1256Ter) c.4589T>A (p.Leu1530Ter) c.2621T>A (p.Leu874Ter) c.1277T>A (p.Leu426Ter) c.4636T>A c.5678T>A (p.Leu1893Ter) c.5132T>A (p.Leu1711Ter) c.4859T>A (p.Leu1620Ter) n.260T>A c.1365T>A c.5405T>A (p.Leu1802Ter) c.4586T>A (p.Leu1529Ter) c.4040T>A (p.Leu1347Ter) c.5954T>A (p.Leu1985Ter) c.5681T>A (p.Leu1894Ter) c.5135T>A (p.Leu1712Ter) c.4862T>A (p.Leu1621Ter) c.4313T>A (p.Leu1438Ter) c.6227T>A (p.Leu2076Ter) c.5951T>A (p.Leu1984Ter) | |
9 | g.115035314A>C | CA374626607 | TNC | c.3766T>G (p.Leu1256Val) c.4588T>G (p.Leu1530Val) c.2620T>G (p.Leu874Val) c.1276T>G (p.Leu426Val) c.4635T>G c.5677T>G (p.Leu1893Val) c.5131T>G (p.Leu1711Val) c.4858T>G (p.Leu1620Val) n.259T>G c.1364T>G c.5404T>G (p.Leu1802Val) c.4585T>G (p.Leu1529Val) c.4039T>G (p.Leu1347Val) c.5953T>G (p.Leu1985Val) c.5680T>G (p.Leu1894Val) c.5134T>G (p.Leu1712Val) c.4861T>G (p.Leu1621Val) c.4312T>G (p.Leu1438Val) c.6226T>G (p.Leu2076Val) c.5950T>G (p.Leu1984Val) | COSMIC |
9 | g.115035314A>G | CA466790383 | TNC | c.3766T>C (p.Leu1256=) c.4588T>C (p.Leu1530=) c.2620T>C (p.Leu874=) c.1276T>C (p.Leu426=) c.4635T>C c.5677T>C (p.Leu1893=) c.5131T>C (p.Leu1711=) c.4858T>C (p.Leu1620=) n.259T>C c.1364T>C c.5404T>C (p.Leu1802=) c.4585T>C (p.Leu1529=) c.4039T>C (p.Leu1347=) c.5953T>C (p.Leu1985=) c.5680T>C (p.Leu1894=) c.5134T>C (p.Leu1712=) c.4861T>C (p.Leu1621=) c.4312T>C (p.Leu1438=) c.6226T>C (p.Leu2076=) c.5950T>C (p.Leu1984=) | gnomAD v4 |
9 | g.115035314A>T | CA374626608 | TNC | c.3766T>A (p.Leu1256Met) c.4588T>A (p.Leu1530Met) c.2620T>A (p.Leu874Met) c.1276T>A (p.Leu426Met) c.4635T>A c.5677T>A (p.Leu1893Met) c.5131T>A (p.Leu1711Met) c.4858T>A (p.Leu1620Met) n.259T>A c.1364T>A c.5404T>A (p.Leu1802Met) c.4585T>A (p.Leu1529Met) c.4039T>A (p.Leu1347Met) c.5953T>A (p.Leu1985Met) c.5680T>A (p.Leu1894Met) c.5134T>A (p.Leu1712Met) c.4861T>A (p.Leu1621Met) c.4312T>A (p.Leu1438Met) c.6226T>A (p.Leu2076Met) c.5950T>A (p.Leu1984Met) | dbSNP gnomAD v4 |
9 | g.115035315G>A | CA466790386 | TNC | c.3765C>T (p.Asp1255=) c.4587C>T (p.Asp1529=) c.2619C>T (p.Asp873=) c.1275C>T (p.Asp425=) c.4634C>T c.5676C>T (p.Asp1892=) c.5130C>T (p.Asp1710=) c.4857C>T (p.Asp1619=) n.258C>T c.1363C>T c.5403C>T (p.Asp1801=) c.4584C>T (p.Asp1528=) c.4038C>T (p.Asp1346=) c.5952C>T (p.Asp1984=) c.5679C>T (p.Asp1893=) c.5133C>T (p.Asp1711=) c.4860C>T (p.Asp1620=) c.4311C>T (p.Asp1437=) c.6225C>T (p.Asp2075=) c.5949C>T (p.Asp1983=) | |
9 | g.115035315G>C | CA374626609 | TNC | c.3765C>G (p.Asp1255Glu) c.4587C>G (p.Asp1529Glu) c.2619C>G (p.Asp873Glu) c.1275C>G (p.Asp425Glu) c.4634C>G c.5676C>G (p.Asp1892Glu) c.5130C>G (p.Asp1710Glu) c.4857C>G (p.Asp1619Glu) n.258C>G c.1363C>G c.5403C>G (p.Asp1801Glu) c.4584C>G (p.Asp1528Glu) c.4038C>G (p.Asp1346Glu) c.5952C>G (p.Asp1984Glu) c.5679C>G (p.Asp1893Glu) c.5133C>G (p.Asp1711Glu) c.4860C>G (p.Asp1620Glu) c.4311C>G (p.Asp1437Glu) c.6225C>G (p.Asp2075Glu) c.5949C>G (p.Asp1983Glu) | |
9 | g.115035315G>T | CA374626610 | TNC | c.3765C>A (p.Asp1255Glu) c.4587C>A (p.Asp1529Glu) c.2619C>A (p.Asp873Glu) c.1275C>A (p.Asp425Glu) c.4634C>A c.5676C>A (p.Asp1892Glu) c.5130C>A (p.Asp1710Glu) c.4857C>A (p.Asp1619Glu) n.258C>A c.1363C>A c.5403C>A (p.Asp1801Glu) c.4584C>A (p.Asp1528Glu) c.4038C>A (p.Asp1346Glu) c.5952C>A (p.Asp1984Glu) c.5679C>A (p.Asp1893Glu) c.5133C>A (p.Asp1711Glu) c.4860C>A (p.Asp1620Glu) c.4311C>A (p.Asp1437Glu) c.6225C>A (p.Asp2075Glu) c.5949C>A (p.Asp1983Glu) | |
9 | g.115035315_115035316insGTATTTTAAGTATA | CA2514398963 | TNC | c.3764_3765insTATACTTAAAATAC (p.Leu1256IlefsTer6) c.4586_4587insTATACTTAAAATAC (p.Leu1530IlefsTer6) c.2618_2619insTATACTTAAAATAC (p.Leu874IlefsTer6) c.1274_1275insTATACTTAAAATAC (p.Leu426IlefsTer6) c.4633_4634insTATACTTAAAATAC c.5675_5676insTATACTTAAAATAC (p.Leu1893IlefsTer6) c.5129_5130insTATACTTAAAATAC (p.Leu1711IlefsTer6) c.4856_4857insTATACTTAAAATAC (p.Leu1620IlefsTer6) n.257_258insTATACTTAAAATAC c.1362_1363insTATACTTAAAATAC c.5402_5403insTATACTTAAAATAC (p.Leu1802IlefsTer6) c.4583_4584insTATACTTAAAATAC (p.Leu1529IlefsTer6) c.4037_4038insTATACTTAAAATAC (p.Leu1347IlefsTer6) c.5951_5952insTATACTTAAAATAC (p.Leu1985IlefsTer6) c.5678_5679insTATACTTAAAATAC (p.Leu1894IlefsTer6) c.5132_5133insTATACTTAAAATAC (p.Leu1712IlefsTer6) c.4859_4860insTATACTTAAAATAC (p.Leu1621IlefsTer6) c.4310_4311insTATACTTAAAATAC (p.Leu1438IlefsTer6) c.6224_6225insTATACTTAAAATAC (p.Leu2076IlefsTer6) c.5948_5949insTATACTTAAAATAC (p.Leu1984IlefsTer6) | |
9 | g.115035316T>A | CA374626611 | TNC | c.3764A>T (p.Asp1255Val) c.4586A>T (p.Asp1529Val) c.2618A>T (p.Asp873Val) c.1274A>T (p.Asp425Val) c.4633A>T c.5675A>T (p.Asp1892Val) c.5129A>T (p.Asp1710Val) c.4856A>T (p.Asp1619Val) n.257A>T c.1362A>T c.5402A>T (p.Asp1801Val) c.4583A>T (p.Asp1528Val) c.4037A>T (p.Asp1346Val) c.5951A>T (p.Asp1984Val) c.5678A>T (p.Asp1893Val) c.5132A>T (p.Asp1711Val) c.4859A>T (p.Asp1620Val) c.4310A>T (p.Asp1437Val) c.6224A>T (p.Asp2075Val) c.5948A>T (p.Asp1983Val) | |
9 | g.115035316T>C | CA374626612 | TNC | c.3764A>G (p.Asp1255Gly) c.4586A>G (p.Asp1529Gly) c.2618A>G (p.Asp873Gly) c.1274A>G (p.Asp425Gly) c.4633A>G c.5675A>G (p.Asp1892Gly) c.5129A>G (p.Asp1710Gly) c.4856A>G (p.Asp1619Gly) n.257A>G c.1362A>G c.5402A>G (p.Asp1801Gly) c.4583A>G (p.Asp1528Gly) c.4037A>G (p.Asp1346Gly) c.5951A>G (p.Asp1984Gly) c.5678A>G (p.Asp1893Gly) c.5132A>G (p.Asp1711Gly) c.4859A>G (p.Asp1620Gly) c.4310A>G (p.Asp1437Gly) c.6224A>G (p.Asp2075Gly) c.5948A>G (p.Asp1983Gly) | |
9 | g.115035316T>G | CA374626613 | TNC | c.3764A>C (p.Asp1255Ala) c.4586A>C (p.Asp1529Ala) c.2618A>C (p.Asp873Ala) c.1274A>C (p.Asp425Ala) c.4633A>C c.5675A>C (p.Asp1892Ala) c.5129A>C (p.Asp1710Ala) c.4856A>C (p.Asp1619Ala) n.257A>C c.1362A>C c.5402A>C (p.Asp1801Ala) c.4583A>C (p.Asp1528Ala) c.4037A>C (p.Asp1346Ala) c.5951A>C (p.Asp1984Ala) c.5678A>C (p.Asp1893Ala) c.5132A>C (p.Asp1711Ala) c.4859A>C (p.Asp1620Ala) c.4310A>C (p.Asp1437Ala) c.6224A>C (p.Asp2075Ala) c.5948A>C (p.Asp1983Ala) | |
9 | g.115035317C>A | CA374626614 | TNC | c.3763G>T (p.Asp1255Tyr) c.4585G>T (p.Asp1529Tyr) c.2617G>T (p.Asp873Tyr) c.1273G>T (p.Asp425Tyr) c.4632G>T c.5674G>T (p.Asp1892Tyr) c.5128G>T (p.Asp1710Tyr) c.4855G>T (p.Asp1619Tyr) n.256G>T c.1361G>T c.5401G>T (p.Asp1801Tyr) c.4582G>T (p.Asp1528Tyr) c.4036G>T (p.Asp1346Tyr) c.5950G>T (p.Asp1984Tyr) c.5677G>T (p.Asp1893Tyr) c.5131G>T (p.Asp1711Tyr) c.4858G>T (p.Asp1620Tyr) c.4309G>T (p.Asp1437Tyr) c.6223G>T (p.Asp2075Tyr) c.5947G>T (p.Asp1983Tyr) | |
9 | g.115035317C= | CA1874113771 | TNC | c.3763G= (p.Asp1255=) c.4585G= (p.Asp1529=) c.2617G= (p.Asp873=) c.1273G= (p.Asp425=) c.4632G= c.5674G= (p.Asp1892=) c.5128G= (p.Asp1710=) c.4855G= (p.Asp1619=) n.256G= c.1361G= c.5401G= (p.Asp1801=) c.4582G= (p.Asp1528=) c.4036G= (p.Asp1346=) c.5950G= (p.Asp1984=) c.5677G= (p.Asp1893=) c.5131G= (p.Asp1711=) c.4858G= (p.Asp1620=) c.4309G= (p.Asp1437=) c.6223G= (p.Asp2075=) c.5947G= (p.Asp1983=) | |
9 | g.115035317C>G | CA374626615 | TNC | c.3763G>C (p.Asp1255His) c.4585G>C (p.Asp1529His) c.2617G>C (p.Asp873His) c.1273G>C (p.Asp425His) c.4632G>C c.5674G>C (p.Asp1892His) c.5128G>C (p.Asp1710His) c.4855G>C (p.Asp1619His) n.256G>C c.1361G>C c.5401G>C (p.Asp1801His) c.4582G>C (p.Asp1528His) c.4036G>C (p.Asp1346His) c.5950G>C (p.Asp1984His) c.5677G>C (p.Asp1893His) c.5131G>C (p.Asp1711His) c.4858G>C (p.Asp1620His) c.4309G>C (p.Asp1437His) c.6223G>C (p.Asp2075His) c.5947G>C (p.Asp1983His) | |
9 | g.115035317C>T | CA5207567 | TNC | c.3763G>A (p.Asp1255Asn) c.4585G>A (p.Asp1529Asn) c.2617G>A (p.Asp873Asn) c.1273G>A (p.Asp425Asn) c.4632G>A c.5674G>A (p.Asp1892Asn) c.5128G>A (p.Asp1710Asn) c.4855G>A (p.Asp1619Asn) n.256G>A c.1361G>A c.5401G>A (p.Asp1801Asn) c.4582G>A (p.Asp1528Asn) c.4036G>A (p.Asp1346Asn) c.5950G>A (p.Asp1984Asn) c.5677G>A (p.Asp1893Asn) c.5131G>A (p.Asp1711Asn) c.4858G>A (p.Asp1620Asn) c.4309G>A (p.Asp1437Asn) c.6223G>A (p.Asp2075Asn) c.5947G>A (p.Asp1983Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115035318T>A | CA374626617 | TNC | c.3762A>T (p.Arg1254Ser) c.4584A>T (p.Arg1528Ser) c.2616A>T (p.Arg872Ser) c.1272A>T (p.Arg424Ser) c.4631A>T c.5673A>T (p.Arg1891Ser) c.5127A>T (p.Arg1709Ser) c.4854A>T (p.Arg1618Ser) n.255A>T c.1360A>T c.5400A>T (p.Arg1800Ser) c.4581A>T (p.Arg1527Ser) c.4035A>T (p.Arg1345Ser) c.5949A>T (p.Arg1983Ser) c.5676A>T (p.Arg1892Ser) c.5130A>T (p.Arg1710Ser) c.4857A>T (p.Arg1619Ser) c.4308A>T (p.Arg1436Ser) c.6222A>T (p.Arg2074Ser) c.5946A>T (p.Arg1982Ser) | |
9 | g.115035318T>C | CA5207568 | TNC | c.3762A>G (p.Arg1254=) c.4584A>G (p.Arg1528=) c.2616A>G (p.Arg872=) c.1272A>G (p.Arg424=) c.4631A>G c.5673A>G (p.Arg1891=) c.5127A>G (p.Arg1709=) c.4854A>G (p.Arg1618=) n.255A>G c.1360A>G c.5400A>G (p.Arg1800=) c.4581A>G (p.Arg1527=) c.4035A>G (p.Arg1345=) c.5949A>G (p.Arg1983=) c.5676A>G (p.Arg1892=) c.5130A>G (p.Arg1710=) c.4857A>G (p.Arg1619=) c.4308A>G (p.Arg1436=) c.6222A>G (p.Arg2074=) c.5946A>G (p.Arg1982=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035318T>G | CA374626616 | TNC | c.3762A>C (p.Arg1254Ser) c.4584A>C (p.Arg1528Ser) c.2616A>C (p.Arg872Ser) c.1272A>C (p.Arg424Ser) c.4631A>C c.5673A>C (p.Arg1891Ser) c.5127A>C (p.Arg1709Ser) c.4854A>C (p.Arg1618Ser) n.255A>C c.1360A>C c.5400A>C (p.Arg1800Ser) c.4581A>C (p.Arg1527Ser) c.4035A>C (p.Arg1345Ser) c.5949A>C (p.Arg1983Ser) c.5676A>C (p.Arg1892Ser) c.5130A>C (p.Arg1710Ser) c.4857A>C (p.Arg1619Ser) c.4308A>C (p.Arg1436Ser) c.6222A>C (p.Arg2074Ser) c.5946A>C (p.Arg1982Ser) | |
9 | g.115035318T= | CA1874113772 | TNC | c.3762A= (p.Arg1254=) c.4584A= (p.Arg1528=) c.2616A= (p.Arg872=) c.1272A= (p.Arg424=) c.4631A= c.5673A= (p.Arg1891=) c.5127A= (p.Arg1709=) c.4854A= (p.Arg1618=) n.255A= c.1360A= c.5400A= (p.Arg1800=) c.4581A= (p.Arg1527=) c.4035A= (p.Arg1345=) c.5949A= (p.Arg1983=) c.5676A= (p.Arg1892=) c.5130A= (p.Arg1710=) c.4857A= (p.Arg1619=) c.4308A= (p.Arg1436=) c.6222A= (p.Arg2074=) c.5946A= (p.Arg1982=) | |
9 | g.115035319C>A | CA374626618 | TNC | c.3761G>T (p.Arg1254Ile) c.4583G>T (p.Arg1528Ile) c.2615G>T (p.Arg872Ile) c.1271G>T (p.Arg424Ile) c.4630G>T c.5672G>T (p.Arg1891Ile) c.5126G>T (p.Arg1709Ile) c.4853G>T (p.Arg1618Ile) n.254G>T c.1359G>T c.5399G>T (p.Arg1800Ile) c.4580G>T (p.Arg1527Ile) c.4034G>T (p.Arg1345Ile) c.5948G>T (p.Arg1983Ile) c.5675G>T (p.Arg1892Ile) c.5129G>T (p.Arg1710Ile) c.4856G>T (p.Arg1619Ile) c.4307G>T (p.Arg1436Ile) c.6221G>T (p.Arg2074Ile) c.5945G>T (p.Arg1982Ile) | |
9 | g.115035319C= | CA1874113773 | TNC | c.3761G= (p.Arg1254=) c.4583G= (p.Arg1528=) c.2615G= (p.Arg872=) c.1271G= (p.Arg424=) c.4630G= c.5672G= (p.Arg1891=) c.5126G= (p.Arg1709=) c.4853G= (p.Arg1618=) n.254G= c.1359G= c.5399G= (p.Arg1800=) c.4580G= (p.Arg1527=) c.4034G= (p.Arg1345=) c.5948G= (p.Arg1983=) c.5675G= (p.Arg1892=) c.5129G= (p.Arg1710=) c.4856G= (p.Arg1619=) c.4307G= (p.Arg1436=) c.6221G= (p.Arg2074=) c.5945G= (p.Arg1982=) | |
9 | g.115035319C>G | CA374626619 | TNC | c.3761G>C (p.Arg1254Thr) c.4583G>C (p.Arg1528Thr) c.2615G>C (p.Arg872Thr) c.1271G>C (p.Arg424Thr) c.4630G>C c.5672G>C (p.Arg1891Thr) c.5126G>C (p.Arg1709Thr) c.4853G>C (p.Arg1618Thr) n.254G>C c.1359G>C c.5399G>C (p.Arg1800Thr) c.4580G>C (p.Arg1527Thr) c.4034G>C (p.Arg1345Thr) c.5948G>C (p.Arg1983Thr) c.5675G>C (p.Arg1892Thr) c.5129G>C (p.Arg1710Thr) c.4856G>C (p.Arg1619Thr) c.4307G>C (p.Arg1436Thr) c.6221G>C (p.Arg2074Thr) c.5945G>C (p.Arg1982Thr) | gnomAD v4 |
9 | g.115035319C>T | CA5207569 | TNC | c.3761G>A (p.Arg1254Lys) c.4583G>A (p.Arg1528Lys) c.2615G>A (p.Arg872Lys) c.1271G>A (p.Arg424Lys) c.4630G>A c.5672G>A (p.Arg1891Lys) c.5126G>A (p.Arg1709Lys) c.4853G>A (p.Arg1618Lys) n.254G>A c.1359G>A c.5399G>A (p.Arg1800Lys) c.4580G>A (p.Arg1527Lys) c.4034G>A (p.Arg1345Lys) c.5948G>A (p.Arg1983Lys) c.5675G>A (p.Arg1892Lys) c.5129G>A (p.Arg1710Lys) c.4856G>A (p.Arg1619Lys) c.4307G>A (p.Arg1436Lys) c.6221G>A (p.Arg2074Lys) c.5945G>A (p.Arg1982Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115035320T>A | CA374626620 | TNC | c.3760A>T (p.Arg1254Ter) c.4582A>T (p.Arg1528Ter) c.2614A>T (p.Arg872Ter) c.1270A>T (p.Arg424Ter) c.4629A>T c.5671A>T (p.Arg1891Ter) c.5125A>T (p.Arg1709Ter) c.4852A>T (p.Arg1618Ter) n.253A>T c.1358A>T c.5398A>T (p.Arg1800Ter) c.4579A>T (p.Arg1527Ter) c.4033A>T (p.Arg1345Ter) c.5947A>T (p.Arg1983Ter) c.5674A>T (p.Arg1892Ter) c.5128A>T (p.Arg1710Ter) c.4855A>T (p.Arg1619Ter) c.4306A>T (p.Arg1436Ter) c.6220A>T (p.Arg2074Ter) c.5944A>T (p.Arg1982Ter) | |
9 | g.115035320T>C | CA374626621 | TNC | c.3760A>G (p.Arg1254Gly) c.4582A>G (p.Arg1528Gly) c.2614A>G (p.Arg872Gly) c.1270A>G (p.Arg424Gly) c.4629A>G c.5671A>G (p.Arg1891Gly) c.5125A>G (p.Arg1709Gly) c.4852A>G (p.Arg1618Gly) n.253A>G c.1358A>G c.5398A>G (p.Arg1800Gly) c.4579A>G (p.Arg1527Gly) c.4033A>G (p.Arg1345Gly) c.5947A>G (p.Arg1983Gly) c.5674A>G (p.Arg1892Gly) c.5128A>G (p.Arg1710Gly) c.4855A>G (p.Arg1619Gly) c.4306A>G (p.Arg1436Gly) c.6220A>G (p.Arg2074Gly) c.5944A>G (p.Arg1982Gly) | |
9 | g.115035320T>G | CA466790388 | TNC | c.3760A>C (p.Arg1254=) c.4582A>C (p.Arg1528=) c.2614A>C (p.Arg872=) c.1270A>C (p.Arg424=) c.4629A>C c.5671A>C (p.Arg1891=) c.5125A>C (p.Arg1709=) c.4852A>C (p.Arg1618=) n.253A>C c.1358A>C c.5398A>C (p.Arg1800=) c.4579A>C (p.Arg1527=) c.4033A>C (p.Arg1345=) c.5947A>C (p.Arg1983=) c.5674A>C (p.Arg1892=) c.5128A>C (p.Arg1710=) c.4855A>C (p.Arg1619=) c.4306A>C (p.Arg1436=) c.6220A>C (p.Arg2074=) c.5944A>C (p.Arg1982=) | |
9 | g.115035321T>A | CA466790391 | TNC | c.3759A>T (p.Pro1253=) c.4581A>T (p.Pro1527=) c.2613A>T (p.Pro871=) c.1269A>T (p.Pro423=) c.4628A>T c.5670A>T (p.Pro1890=) c.5124A>T (p.Pro1708=) c.4851A>T (p.Pro1617=) n.252A>T c.1357A>T c.5397A>T (p.Pro1799=) c.4578A>T (p.Pro1526=) c.4032A>T (p.Pro1344=) c.5946A>T (p.Pro1982=) c.5673A>T (p.Pro1891=) c.5127A>T (p.Pro1709=) c.4854A>T (p.Pro1618=) c.4305A>T (p.Pro1435=) c.6219A>T (p.Pro2073=) c.5943A>T (p.Pro1981=) | |
9 | g.115035321T>C | CA466790389 | TNC | c.3759A>G (p.Pro1253=) c.4581A>G (p.Pro1527=) c.2613A>G (p.Pro871=) c.1269A>G (p.Pro423=) c.4628A>G c.5670A>G (p.Pro1890=) c.5124A>G (p.Pro1708=) c.4851A>G (p.Pro1617=) n.252A>G c.1357A>G c.5397A>G (p.Pro1799=) c.4578A>G (p.Pro1526=) c.4032A>G (p.Pro1344=) c.5946A>G (p.Pro1982=) c.5673A>G (p.Pro1891=) c.5127A>G (p.Pro1709=) c.4854A>G (p.Pro1618=) c.4305A>G (p.Pro1435=) c.6219A>G (p.Pro2073=) c.5943A>G (p.Pro1981=) | |
9 | g.115035321T>G | CA466790390 | TNC | c.3759A>C (p.Pro1253=) c.4581A>C (p.Pro1527=) c.2613A>C (p.Pro871=) c.1269A>C (p.Pro423=) c.4628A>C c.5670A>C (p.Pro1890=) c.5124A>C (p.Pro1708=) c.4851A>C (p.Pro1617=) n.252A>C c.1357A>C c.5397A>C (p.Pro1799=) c.4578A>C (p.Pro1526=) c.4032A>C (p.Pro1344=) c.5946A>C (p.Pro1982=) c.5673A>C (p.Pro1891=) c.5127A>C (p.Pro1709=) c.4854A>C (p.Pro1618=) c.4305A>C (p.Pro1435=) c.6219A>C (p.Pro2073=) c.5943A>C (p.Pro1981=) | |
9 | g.115035322G>A | CA374626622 | TNC | c.3758C>T (p.Pro1253Leu) c.4580C>T (p.Pro1527Leu) c.2612C>T (p.Pro871Leu) c.1268C>T (p.Pro423Leu) c.4627C>T c.5669C>T (p.Pro1890Leu) c.5123C>T (p.Pro1708Leu) c.4850C>T (p.Pro1617Leu) n.251C>T c.1356C>T c.5396C>T (p.Pro1799Leu) c.4577C>T (p.Pro1526Leu) c.4031C>T (p.Pro1344Leu) c.5945C>T (p.Pro1982Leu) c.5672C>T (p.Pro1891Leu) c.5126C>T (p.Pro1709Leu) c.4853C>T (p.Pro1618Leu) c.4304C>T (p.Pro1435Leu) c.6218C>T (p.Pro2073Leu) c.5942C>T (p.Pro1981Leu) | |
9 | g.115035322G>C | CA374626623 | TNC | c.3758C>G (p.Pro1253Arg) c.4580C>G (p.Pro1527Arg) c.2612C>G (p.Pro871Arg) c.1268C>G (p.Pro423Arg) c.4627C>G c.5669C>G (p.Pro1890Arg) c.5123C>G (p.Pro1708Arg) c.4850C>G (p.Pro1617Arg) n.251C>G c.1356C>G c.5396C>G (p.Pro1799Arg) c.4577C>G (p.Pro1526Arg) c.4031C>G (p.Pro1344Arg) c.5945C>G (p.Pro1982Arg) c.5672C>G (p.Pro1891Arg) c.5126C>G (p.Pro1709Arg) c.4853C>G (p.Pro1618Arg) c.4304C>G (p.Pro1435Arg) c.6218C>G (p.Pro2073Arg) c.5942C>G (p.Pro1981Arg) | |
9 | g.115035322G>T | CA374626624 | TNC | c.3758C>A (p.Pro1253Gln) c.4580C>A (p.Pro1527Gln) c.2612C>A (p.Pro871Gln) c.1268C>A (p.Pro423Gln) c.4627C>A c.5669C>A (p.Pro1890Gln) c.5123C>A (p.Pro1708Gln) c.4850C>A (p.Pro1617Gln) n.251C>A c.1356C>A c.5396C>A (p.Pro1799Gln) c.4577C>A (p.Pro1526Gln) c.4031C>A (p.Pro1344Gln) c.5945C>A (p.Pro1982Gln) c.5672C>A (p.Pro1891Gln) c.5126C>A (p.Pro1709Gln) c.4853C>A (p.Pro1618Gln) c.4304C>A (p.Pro1435Gln) c.6218C>A (p.Pro2073Gln) c.5942C>A (p.Pro1981Gln) | |
9 | g.115035323G>A | CA374626625 | TNC | c.3757C>T (p.Pro1253Ser) c.4579C>T (p.Pro1527Ser) c.2611C>T (p.Pro871Ser) c.1267C>T (p.Pro423Ser) c.4626C>T c.5668C>T (p.Pro1890Ser) c.5122C>T (p.Pro1708Ser) c.4849C>T (p.Pro1617Ser) n.250C>T c.1355C>T c.5395C>T (p.Pro1799Ser) c.4576C>T (p.Pro1526Ser) c.4030C>T (p.Pro1344Ser) c.5944C>T (p.Pro1982Ser) c.5671C>T (p.Pro1891Ser) c.5125C>T (p.Pro1709Ser) c.4852C>T (p.Pro1618Ser) c.4303C>T (p.Pro1435Ser) c.6217C>T (p.Pro2073Ser) c.5941C>T (p.Pro1981Ser) | gnomAD v4 COSMIC |
9 | g.115035323G>C | CA374626626 | TNC | c.3757C>G (p.Pro1253Ala) c.4579C>G (p.Pro1527Ala) c.2611C>G (p.Pro871Ala) c.1267C>G (p.Pro423Ala) c.4626C>G c.5668C>G (p.Pro1890Ala) c.5122C>G (p.Pro1708Ala) c.4849C>G (p.Pro1617Ala) n.250C>G c.1355C>G c.5395C>G (p.Pro1799Ala) c.4576C>G (p.Pro1526Ala) c.4030C>G (p.Pro1344Ala) c.5944C>G (p.Pro1982Ala) c.5671C>G (p.Pro1891Ala) c.5125C>G (p.Pro1709Ala) c.4852C>G (p.Pro1618Ala) c.4303C>G (p.Pro1435Ala) c.6217C>G (p.Pro2073Ala) c.5941C>G (p.Pro1981Ala) | |
9 | g.115035323G>T | CA374626627 | TNC | c.3757C>A (p.Pro1253Thr) c.4579C>A (p.Pro1527Thr) c.2611C>A (p.Pro871Thr) c.1267C>A (p.Pro423Thr) c.4626C>A c.5668C>A (p.Pro1890Thr) c.5122C>A (p.Pro1708Thr) c.4849C>A (p.Pro1617Thr) n.250C>A c.1355C>A c.5395C>A (p.Pro1799Thr) c.4576C>A (p.Pro1526Thr) c.4030C>A (p.Pro1344Thr) c.5944C>A (p.Pro1982Thr) c.5671C>A (p.Pro1891Thr) c.5125C>A (p.Pro1709Thr) c.4852C>A (p.Pro1618Thr) c.4303C>A (p.Pro1435Thr) c.6217C>A (p.Pro2073Thr) c.5941C>A (p.Pro1981Thr) | gnomAD v4 |
9 | g.115035324A= | CA1874113774 | TNC | c.3756T= (p.Ser1252=) c.4578T= (p.Ser1526=) c.2610T= (p.Ser870=) c.1266T= (p.Ser422=) c.4625T= c.5667T= (p.Ser1889=) c.5121T= (p.Ser1707=) c.4848T= (p.Ser1616=) n.249T= c.1354T= c.5394T= (p.Ser1798=) c.4575T= (p.Ser1525=) c.4029T= (p.Ser1343=) c.5943T= (p.Ser1981=) c.5670T= (p.Ser1890=) c.5124T= (p.Ser1708=) c.4851T= (p.Ser1617=) c.4302T= (p.Ser1434=) c.6216T= (p.Ser2072=) c.5940T= (p.Ser1980=) | |
9 | g.115035324A>C | CA466790392 | TNC | c.3756T>G (p.Ser1252=) c.4578T>G (p.Ser1526=) c.2610T>G (p.Ser870=) c.1266T>G (p.Ser422=) c.4625T>G c.5667T>G (p.Ser1889=) c.5121T>G (p.Ser1707=) c.4848T>G (p.Ser1616=) n.249T>G c.1354T>G c.5394T>G (p.Ser1798=) c.4575T>G (p.Ser1525=) c.4029T>G (p.Ser1343=) c.5943T>G (p.Ser1981=) c.5670T>G (p.Ser1890=) c.5124T>G (p.Ser1708=) c.4851T>G (p.Ser1617=) c.4302T>G (p.Ser1434=) c.6216T>G (p.Ser2072=) c.5940T>G (p.Ser1980=) | |
9 | g.115035324A>G | CA5207570 | TNC | c.3756T>C (p.Ser1252=) c.4578T>C (p.Ser1526=) c.2610T>C (p.Ser870=) c.1266T>C (p.Ser422=) c.4625T>C c.5667T>C (p.Ser1889=) c.5121T>C (p.Ser1707=) c.4848T>C (p.Ser1616=) n.249T>C c.1354T>C c.5394T>C (p.Ser1798=) c.4575T>C (p.Ser1525=) c.4029T>C (p.Ser1343=) c.5943T>C (p.Ser1981=) c.5670T>C (p.Ser1890=) c.5124T>C (p.Ser1708=) c.4851T>C (p.Ser1617=) c.4302T>C (p.Ser1434=) c.6216T>C (p.Ser2072=) c.5940T>C (p.Ser1980=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115035324A>T | CA466790393 | TNC | c.3756T>A (p.Ser1252=) c.4578T>A (p.Ser1526=) c.2610T>A (p.Ser870=) c.1266T>A (p.Ser422=) c.4625T>A c.5667T>A (p.Ser1889=) c.5121T>A (p.Ser1707=) c.4848T>A (p.Ser1616=) n.249T>A c.1354T>A c.5394T>A (p.Ser1798=) c.4575T>A (p.Ser1525=) c.4029T>A (p.Ser1343=) c.5943T>A (p.Ser1981=) c.5670T>A (p.Ser1890=) c.5124T>A (p.Ser1708=) c.4851T>A (p.Ser1617=) c.4302T>A (p.Ser1434=) c.6216T>A (p.Ser2072=) c.5940T>A (p.Ser1980=) | |
9 | g.115035325G>A | CA374626629 | TNC | c.3755C>T (p.Ser1252Phe) c.4577C>T (p.Ser1526Phe) c.2609C>T (p.Ser870Phe) c.1265C>T (p.Ser422Phe) c.4624C>T c.5666C>T (p.Ser1889Phe) c.5120C>T (p.Ser1707Phe) c.4847C>T (p.Ser1616Phe) n.248C>T c.1353C>T c.5393C>T (p.Ser1798Phe) c.4574C>T (p.Ser1525Phe) c.4028C>T (p.Ser1343Phe) c.5942C>T (p.Ser1981Phe) c.5669C>T (p.Ser1890Phe) c.5123C>T (p.Ser1708Phe) c.4850C>T (p.Ser1617Phe) c.4301C>T (p.Ser1434Phe) c.6215C>T (p.Ser2072Phe) c.5939C>T (p.Ser1980Phe) | COSMIC |
9 | g.115035325G>C | CA5207571 | TNC | c.3755C>G (p.Ser1252Cys) c.4577C>G (p.Ser1526Cys) c.2609C>G (p.Ser870Cys) c.1265C>G (p.Ser422Cys) c.4624C>G c.5666C>G (p.Ser1889Cys) c.5120C>G (p.Ser1707Cys) c.4847C>G (p.Ser1616Cys) n.248C>G c.1353C>G c.5393C>G (p.Ser1798Cys) c.4574C>G (p.Ser1525Cys) c.4028C>G (p.Ser1343Cys) c.5942C>G (p.Ser1981Cys) c.5669C>G (p.Ser1890Cys) c.5123C>G (p.Ser1708Cys) c.4850C>G (p.Ser1617Cys) c.4301C>G (p.Ser1434Cys) c.6215C>G (p.Ser2072Cys) c.5939C>G (p.Ser1980Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115035325G= | CA1874113775 | TNC | c.3755C= (p.Ser1252=) c.4577C= (p.Ser1526=) c.2609C= (p.Ser870=) c.1265C= (p.Ser422=) c.4624C= c.5666C= (p.Ser1889=) c.5120C= (p.Ser1707=) c.4847C= (p.Ser1616=) n.248C= c.1353C= c.5393C= (p.Ser1798=) c.4574C= (p.Ser1525=) c.4028C= (p.Ser1343=) c.5942C= (p.Ser1981=) c.5669C= (p.Ser1890=) c.5123C= (p.Ser1708=) c.4850C= (p.Ser1617=) c.4301C= (p.Ser1434=) c.6215C= (p.Ser2072=) c.5939C= (p.Ser1980=) | |
9 | g.115035325G>T | CA374626628 | TNC | c.3755C>A (p.Ser1252Tyr) c.4577C>A (p.Ser1526Tyr) c.2609C>A (p.Ser870Tyr) c.1265C>A (p.Ser422Tyr) c.4624C>A c.5666C>A (p.Ser1889Tyr) c.5120C>A (p.Ser1707Tyr) c.4847C>A (p.Ser1616Tyr) n.248C>A c.1353C>A c.5393C>A (p.Ser1798Tyr) c.4574C>A (p.Ser1525Tyr) c.4028C>A (p.Ser1343Tyr) c.5942C>A (p.Ser1981Tyr) c.5669C>A (p.Ser1890Tyr) c.5123C>A (p.Ser1708Tyr) c.4850C>A (p.Ser1617Tyr) c.4301C>A (p.Ser1434Tyr) c.6215C>A (p.Ser2072Tyr) c.5939C>A (p.Ser1980Tyr) |