Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.22259649C>A | CA379922252 | ANO5 | c.1088C>A (p.Thr363Asn) c.1496C>A (p.Thr499Asn) n.2532C>A c.1493C>A (p.Thr498Asn) c.1538C>A (p.Thr513Asn) n.1873C>A c.1535C>A (p.Thr512Asn) c.1460C>A (p.Thr487Asn) c.1457C>A (p.Thr486Asn) c.1445C>A (p.Thr482Asn) | |
11 | g.22259649C= | CA1957418758 | ANO5 | c.1088C= (p.Thr363=) c.1496C= (p.Thr499=) n.2532C= c.1493C= (p.Thr498=) c.1538C= (p.Thr513=) n.1873C= c.1535C= (p.Thr512=) c.1460C= (p.Thr487=) c.1457C= (p.Thr486=) c.1445C= (p.Thr482=) | |
11 | g.22259649C>G | CA379922253 | ANO5 | c.1088C>G (p.Thr363Ser) c.1496C>G (p.Thr499Ser) n.2532C>G c.1493C>G (p.Thr498Ser) c.1538C>G (p.Thr513Ser) n.1873C>G c.1535C>G (p.Thr512Ser) c.1460C>G (p.Thr487Ser) c.1457C>G (p.Thr486Ser) c.1445C>G (p.Thr482Ser) | |
11 | g.22259649C>T | CA10606250 | ANO5 | c.1088C>T (p.Thr363Ile) c.1496C>T (p.Thr499Ile) n.2532C>T c.1493C>T (p.Thr498Ile) c.1538C>T (p.Thr513Ile) n.1873C>T c.1535C>T (p.Thr512Ile) c.1460C>T (p.Thr487Ile) c.1457C>T (p.Thr486Ile) c.1445C>T (p.Thr482Ile) | ClinVar dbSNP |
11 | g.22259650C>A | CA473405082 | ANO5 | c.1089C>A (p.Thr363=) c.1497C>A (p.Thr499=) n.2533C>A c.1494C>A (p.Thr498=) c.1539C>A (p.Thr513=) n.1874C>A c.1536C>A (p.Thr512=) c.1461C>A (p.Thr487=) c.1458C>A (p.Thr486=) c.1446C>A (p.Thr482=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259650C= | CA1957418759 | ANO5 | c.1089C= (p.Thr363=) c.1497C= (p.Thr499=) n.2533C= c.1494C= (p.Thr498=) c.1539C= (p.Thr513=) n.1874C= c.1536C= (p.Thr512=) c.1461C= (p.Thr487=) c.1458C= (p.Thr486=) c.1446C= (p.Thr482=) | |
11 | g.22259650C>G | CA473405083 | ANO5 | c.1089C>G (p.Thr363=) c.1497C>G (p.Thr499=) n.2533C>G c.1494C>G (p.Thr498=) c.1539C>G (p.Thr513=) n.1874C>G c.1536C>G (p.Thr512=) c.1461C>G (p.Thr487=) c.1458C>G (p.Thr486=) c.1446C>G (p.Thr482=) | gnomAD v4 |
11 | g.22259650C>T | CA473405084 | ANO5 | c.1089C>T (p.Thr363=) c.1497C>T (p.Thr499=) n.2533C>T c.1494C>T (p.Thr498=) c.1539C>T (p.Thr513=) n.1874C>T c.1536C>T (p.Thr512=) c.1461C>T (p.Thr487=) c.1458C>T (p.Thr486=) c.1446C>T (p.Thr482=) | |
11 | g.22259651A>C | CA379922254 | ANO5 | c.1090A>C (p.Thr364Pro) c.1498A>C (p.Thr500Pro) n.2534A>C c.1495A>C (p.Thr499Pro) c.1540A>C (p.Thr514Pro) n.1875A>C c.1537A>C (p.Thr513Pro) c.1462A>C (p.Thr488Pro) c.1459A>C (p.Thr487Pro) c.1447A>C (p.Thr483Pro) | |
11 | g.22259651A>G | CA379922255 | ANO5 | c.1090A>G (p.Thr364Ala) c.1498A>G (p.Thr500Ala) n.2534A>G c.1495A>G (p.Thr499Ala) c.1540A>G (p.Thr514Ala) n.1875A>G c.1537A>G (p.Thr513Ala) c.1462A>G (p.Thr488Ala) c.1459A>G (p.Thr487Ala) c.1447A>G (p.Thr483Ala) | |
11 | g.22259651A>T | CA379922256 | ANO5 | c.1090A>T (p.Thr364Ser) c.1498A>T (p.Thr500Ser) n.2534A>T c.1495A>T (p.Thr499Ser) c.1540A>T (p.Thr514Ser) n.1875A>T c.1537A>T (p.Thr513Ser) c.1462A>T (p.Thr488Ser) c.1459A>T (p.Thr487Ser) c.1447A>T (p.Thr483Ser) | |
11 | g.22259652C>A | CA379922258 | ANO5 | c.1091C>A (p.Thr364Lys) c.1499C>A (p.Thr500Lys) n.2535C>A c.1496C>A (p.Thr499Lys) c.1541C>A (p.Thr514Lys) n.1876C>A c.1538C>A (p.Thr513Lys) c.1463C>A (p.Thr488Lys) c.1460C>A (p.Thr487Lys) c.1448C>A (p.Thr483Lys) | |
11 | g.22259652C= | CA1957418760 | ANO5 | c.1091C= (p.Thr364=) c.1499C= (p.Thr500=) n.2535C= c.1496C= (p.Thr499=) c.1541C= (p.Thr514=) n.1876C= c.1538C= (p.Thr513=) c.1463C= (p.Thr488=) c.1460C= (p.Thr487=) c.1448C= (p.Thr483=) | |
11 | g.22259652C>G | CA379922257 | ANO5 | c.1091C>G (p.Thr364Arg) c.1499C>G (p.Thr500Arg) n.2535C>G c.1496C>G (p.Thr499Arg) c.1541C>G (p.Thr514Arg) n.1876C>G c.1538C>G (p.Thr513Arg) c.1463C>G (p.Thr488Arg) c.1460C>G (p.Thr487Arg) c.1448C>G (p.Thr483Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259652C>T | CA144627 | ANO5 | c.1091C>T (p.Thr364Ile) c.1499C>T (p.Thr500Ile) n.2535C>T c.1496C>T (p.Thr499Ile) c.1541C>T (p.Thr514Ile) n.1876C>T c.1538C>T (p.Thr513Ile) c.1463C>T (p.Thr488Ile) c.1460C>T (p.Thr487Ile) c.1448C>T (p.Thr483Ile) | ClinVar dbSNP |
11 | g.22259653A>C | CA473405085 | ANO5 | c.1092A>C (p.Thr364=) c.1500A>C (p.Thr500=) n.2536A>C c.1497A>C (p.Thr499=) c.1542A>C (p.Thr514=) n.1877A>C c.1539A>C (p.Thr513=) c.1464A>C (p.Thr488=) c.1461A>C (p.Thr487=) c.1449A>C (p.Thr483=) | |
11 | g.22259653A>G | CA473405086 | ANO5 | c.1092A>G (p.Thr364=) c.1500A>G (p.Thr500=) n.2536A>G c.1497A>G (p.Thr499=) c.1542A>G (p.Thr514=) n.1877A>G c.1539A>G (p.Thr513=) c.1464A>G (p.Thr488=) c.1461A>G (p.Thr487=) c.1449A>G (p.Thr483=) | COSMIC |
11 | g.22259653A>T | CA473405087 | ANO5 | c.1092A>T (p.Thr364=) c.1500A>T (p.Thr500=) n.2536A>T c.1497A>T (p.Thr499=) c.1542A>T (p.Thr514=) n.1877A>T c.1539A>T (p.Thr513=) c.1464A>T (p.Thr488=) c.1461A>T (p.Thr487=) c.1449A>T (p.Thr483=) | gnomAD v4 |
11 | g.22259654T>A | CA379922259 | ANO5 | c.1093T>A (p.Ser365Thr) c.1501T>A (p.Ser501Thr) n.2537T>A c.1498T>A (p.Ser500Thr) c.1543T>A (p.Ser515Thr) n.1878T>A c.1540T>A (p.Ser514Thr) c.1465T>A (p.Ser489Thr) c.1462T>A (p.Ser488Thr) c.1450T>A (p.Ser484Thr) | |
11 | g.22259654T>C | CA379922260 | ANO5 | c.1093T>C (p.Ser365Pro) c.1501T>C (p.Ser501Pro) n.2537T>C c.1498T>C (p.Ser500Pro) c.1543T>C (p.Ser515Pro) n.1878T>C c.1540T>C (p.Ser514Pro) c.1465T>C (p.Ser489Pro) c.1462T>C (p.Ser488Pro) c.1450T>C (p.Ser484Pro) | |
11 | g.22259654T>G | CA379922261 | ANO5 | c.1093T>G (p.Ser365Ala) c.1501T>G (p.Ser501Ala) n.2537T>G c.1498T>G (p.Ser500Ala) c.1543T>G (p.Ser515Ala) n.1878T>G c.1540T>G (p.Ser514Ala) c.1465T>G (p.Ser489Ala) c.1462T>G (p.Ser488Ala) c.1450T>G (p.Ser484Ala) | |
11 | g.22259655C>A | CA379922262 | ANO5 | c.1094C>A (p.Ser365Ter) c.1502C>A (p.Ser501Ter) n.2538C>A c.1499C>A (p.Ser500Ter) c.1544C>A (p.Ser515Ter) n.1879C>A c.1541C>A (p.Ser514Ter) c.1466C>A (p.Ser489Ter) c.1463C>A (p.Ser488Ter) c.1451C>A (p.Ser484Ter) | ClinVar dbSNP |
11 | g.22259655C= | CA1957418761 | ANO5 | c.1094C= (p.Ser365=) c.1502C= (p.Ser501=) n.2538C= c.1499C= (p.Ser500=) c.1544C= (p.Ser515=) n.1879C= c.1541C= (p.Ser514=) c.1466C= (p.Ser489=) c.1463C= (p.Ser488=) c.1451C= (p.Ser484=) | |
11 | g.22259655C>G | CA379922263 | ANO5 | c.1094C>G (p.Ser365Ter) c.1502C>G (p.Ser501Ter) n.2538C>G c.1499C>G (p.Ser500Ter) c.1544C>G (p.Ser515Ter) n.1879C>G c.1541C>G (p.Ser514Ter) c.1466C>G (p.Ser489Ter) c.1463C>G (p.Ser488Ter) c.1451C>G (p.Ser484Ter) | |
11 | g.22259655C>T | CA379922264 | ANO5 | c.1094C>T (p.Ser365Leu) c.1502C>T (p.Ser501Leu) n.2538C>T c.1499C>T (p.Ser500Leu) c.1544C>T (p.Ser515Leu) n.1879C>T c.1541C>T (p.Ser514Leu) c.1466C>T (p.Ser489Leu) c.1463C>T (p.Ser488Leu) c.1451C>T (p.Ser484Leu) | |
11 | g.22259656A= | CA1957418762 | ANO5 | c.1095A= (p.Ser365=) c.1503A= (p.Ser501=) n.2539A= c.1500A= (p.Ser500=) c.1545A= (p.Ser515=) n.1880A= c.1542A= (p.Ser514=) c.1467A= (p.Ser489=) c.1464A= (p.Ser488=) c.1452A= (p.Ser484=) | |
11 | g.22259656A>C | CA473405089 | ANO5 | c.1095A>C (p.Ser365=) c.1503A>C (p.Ser501=) n.2539A>C c.1500A>C (p.Ser500=) c.1545A>C (p.Ser515=) n.1880A>C c.1542A>C (p.Ser514=) c.1467A>C (p.Ser489=) c.1464A>C (p.Ser488=) c.1452A>C (p.Ser484=) | |
11 | g.22259656A>G | CA179748 | ANO5 | c.1095A>G (p.Ser365=) c.1503A>G (p.Ser501=) n.2539A>G c.1500A>G (p.Ser500=) c.1545A>G (p.Ser515=) n.1880A>G c.1542A>G (p.Ser514=) c.1467A>G (p.Ser489=) c.1464A>G (p.Ser488=) c.1452A>G (p.Ser484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259656A>T | CA473405088 | ANO5 | c.1095A>T (p.Ser365=) c.1503A>T (p.Ser501=) n.2539A>T c.1500A>T (p.Ser500=) c.1545A>T (p.Ser515=) n.1880A>T c.1542A>T (p.Ser514=) c.1467A>T (p.Ser489=) c.1464A>T (p.Ser488=) c.1452A>T (p.Ser484=) | gnomAD v4 |
11 | g.22259657C>A | CA379922265 | ANO5 | c.1096C>A (p.Leu366Ile) c.1504C>A (p.Leu502Ile) n.2540C>A c.1501C>A (p.Leu501Ile) c.1546C>A (p.Leu516Ile) n.1881C>A c.1543C>A (p.Leu515Ile) c.1468C>A (p.Leu490Ile) c.1465C>A (p.Leu489Ile) c.1453C>A (p.Leu485Ile) | |
11 | g.22259657C>G | CA379922266 | ANO5 | c.1096C>G (p.Leu366Val) c.1504C>G (p.Leu502Val) n.2540C>G c.1501C>G (p.Leu501Val) c.1546C>G (p.Leu516Val) n.1881C>G c.1543C>G (p.Leu515Val) c.1468C>G (p.Leu490Val) c.1465C>G (p.Leu489Val) c.1453C>G (p.Leu485Val) | gnomAD v4 |
11 | g.22259657C>T | CA379922267 | ANO5 | c.1096C>T (p.Leu366Phe) c.1504C>T (p.Leu502Phe) n.2540C>T c.1501C>T (p.Leu501Phe) c.1546C>T (p.Leu516Phe) n.1881C>T c.1543C>T (p.Leu515Phe) c.1468C>T (p.Leu490Phe) c.1465C>T (p.Leu489Phe) c.1453C>T (p.Leu485Phe) | gnomAD v4 |
11 | g.22259658T>A | CA379922268 | ANO5 | c.1097T>A (p.Leu366His) c.1505T>A (p.Leu502His) n.2541T>A c.1502T>A (p.Leu501His) c.1547T>A (p.Leu516His) n.1882T>A c.1544T>A (p.Leu515His) c.1469T>A (p.Leu490His) c.1466T>A (p.Leu489His) c.1454T>A (p.Leu485His) | |
11 | g.22259658T>C | CA379922269 | ANO5 | c.1097T>C (p.Leu366Pro) c.1505T>C (p.Leu502Pro) n.2541T>C c.1502T>C (p.Leu501Pro) c.1547T>C (p.Leu516Pro) n.1882T>C c.1544T>C (p.Leu515Pro) c.1469T>C (p.Leu490Pro) c.1466T>C (p.Leu489Pro) c.1454T>C (p.Leu485Pro) | |
11 | g.22259658T>G | CA379922270 | ANO5 | c.1097T>G (p.Leu366Arg) c.1505T>G (p.Leu502Arg) n.2541T>G c.1502T>G (p.Leu501Arg) c.1547T>G (p.Leu516Arg) n.1882T>G c.1544T>G (p.Leu515Arg) c.1469T>G (p.Leu490Arg) c.1466T>G (p.Leu489Arg) c.1454T>G (p.Leu485Arg) | |
11 | g.22259659C>A | CA473405090 | ANO5 | c.1098C>A (p.Leu366=) c.1506C>A (p.Leu502=) n.2542C>A c.1503C>A (p.Leu501=) c.1548C>A (p.Leu516=) n.1883C>A c.1545C>A (p.Leu515=) c.1470C>A (p.Leu490=) c.1467C>A (p.Leu489=) c.1455C>A (p.Leu485=) | |
11 | g.22259659C= | CA1957418763 | ANO5 | c.1098C= (p.Leu366=) c.1506C= (p.Leu502=) n.2542C= c.1503C= (p.Leu501=) c.1548C= (p.Leu516=) n.1883C= c.1545C= (p.Leu515=) c.1470C= (p.Leu490=) c.1467C= (p.Leu489=) c.1455C= (p.Leu485=) | |
11 | g.22259659C>G | CA473405091 | ANO5 | c.1098C>G (p.Leu366=) c.1506C>G (p.Leu502=) n.2542C>G c.1503C>G (p.Leu501=) c.1548C>G (p.Leu516=) n.1883C>G c.1545C>G (p.Leu515=) c.1470C>G (p.Leu490=) c.1467C>G (p.Leu489=) c.1455C>G (p.Leu485=) | |
11 | g.22259659C>T | CA10604491 | ANO5 | c.1098C>T (p.Leu366=) c.1506C>T (p.Leu502=) n.2542C>T c.1503C>T (p.Leu501=) c.1548C>T (p.Leu516=) n.1883C>T c.1545C>T (p.Leu515=) c.1470C>T (p.Leu490=) c.1467C>T (p.Leu489=) c.1455C>T (p.Leu485=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259660A= | CA1957418764 | ANO5 | c.1099A= (p.Thr367=) c.1507A= (p.Thr503=) n.2543A= c.1504A= (p.Thr502=) c.1549A= (p.Thr517=) n.1884A= c.1546A= (p.Thr516=) c.1471A= (p.Thr491=) c.1468A= (p.Thr490=) c.1456A= (p.Thr486=) | |
11 | g.22259660A>C | CA379922271 | ANO5 | c.1099A>C (p.Thr367Pro) c.1507A>C (p.Thr503Pro) n.2543A>C c.1504A>C (p.Thr502Pro) c.1549A>C (p.Thr517Pro) n.1884A>C c.1546A>C (p.Thr516Pro) c.1471A>C (p.Thr491Pro) c.1468A>C (p.Thr490Pro) c.1456A>C (p.Thr486Pro) | |
11 | g.22259660A>G | CA5923276 | ANO5 | c.1099A>G (p.Thr367Ala) c.1507A>G (p.Thr503Ala) n.2543A>G c.1504A>G (p.Thr502Ala) c.1549A>G (p.Thr517Ala) n.1884A>G c.1546A>G (p.Thr516Ala) c.1471A>G (p.Thr491Ala) c.1468A>G (p.Thr490Ala) c.1456A>G (p.Thr486Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259660A>T | CA379922272 | ANO5 | c.1099A>T (p.Thr367Ser) c.1507A>T (p.Thr503Ser) n.2543A>T c.1504A>T (p.Thr502Ser) c.1549A>T (p.Thr517Ser) n.1884A>T c.1546A>T (p.Thr516Ser) c.1471A>T (p.Thr491Ser) c.1468A>T (p.Thr490Ser) c.1456A>T (p.Thr486Ser) | |
11 | g.22259661C>A | CA379922273 | ANO5 | c.1100C>A (p.Thr367Lys) c.1508C>A (p.Thr503Lys) n.2544C>A c.1505C>A (p.Thr502Lys) c.1550C>A (p.Thr517Lys) n.1885C>A c.1547C>A (p.Thr516Lys) c.1472C>A (p.Thr491Lys) c.1469C>A (p.Thr490Lys) c.1457C>A (p.Thr486Lys) | ClinVar gnomAD v4 |
11 | g.22259661C= | CA1957418765 | ANO5 | c.1100C= (p.Thr367=) c.1508C= (p.Thr503=) n.2544C= c.1505C= (p.Thr502=) c.1550C= (p.Thr517=) n.1885C= c.1547C= (p.Thr516=) c.1472C= (p.Thr491=) c.1469C= (p.Thr490=) c.1457C= (p.Thr486=) | |
11 | g.22259661C>G | CA379922274 | ANO5 | c.1100C>G (p.Thr367Arg) c.1508C>G (p.Thr503Arg) n.2544C>G c.1505C>G (p.Thr502Arg) c.1550C>G (p.Thr517Arg) n.1885C>G c.1547C>G (p.Thr516Arg) c.1472C>G (p.Thr491Arg) c.1469C>G (p.Thr490Arg) c.1457C>G (p.Thr486Arg) | |
11 | g.22259661C>T | CA5923277 | ANO5 | c.1100C>T (p.Thr367Ile) c.1508C>T (p.Thr503Ile) n.2544C>T c.1505C>T (p.Thr502Ile) c.1550C>T (p.Thr517Ile) n.1885C>T c.1547C>T (p.Thr516Ile) c.1472C>T (p.Thr491Ile) c.1469C>T (p.Thr490Ile) c.1457C>T (p.Thr486Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259662A= | CA1957418766 | ANO5 | c.1101A= (p.Thr367=) c.1509A= (p.Thr503=) n.2545A= c.1506A= (p.Thr502=) c.1551A= (p.Thr517=) n.1886A= c.1548A= (p.Thr516=) c.1473A= (p.Thr491=) c.1470A= (p.Thr490=) c.1458A= (p.Thr486=) | |
11 | g.22259662A>C | CA5923278 | ANO5 | c.1101A>C (p.Thr367=) c.1509A>C (p.Thr503=) n.2545A>C c.1506A>C (p.Thr502=) c.1551A>C (p.Thr517=) n.1886A>C c.1548A>C (p.Thr516=) c.1473A>C (p.Thr491=) c.1470A>C (p.Thr490=) c.1458A>C (p.Thr486=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259662A>G | CA5923279 | ANO5 | c.1101A>G (p.Thr367=) c.1509A>G (p.Thr503=) n.2545A>G c.1506A>G (p.Thr502=) c.1551A>G (p.Thr517=) n.1886A>G c.1548A>G (p.Thr516=) c.1473A>G (p.Thr491=) c.1470A>G (p.Thr490=) c.1458A>G (p.Thr486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |