Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
11 | g.22259662A>T | CA473405092 | ANO5 | c.1101A>T (p.Thr367=) c.1509A>T (p.Thr503=) n.2545A>T c.1506A>T (p.Thr502=) c.1551A>T (p.Thr517=) n.1886A>T c.1548A>T (p.Thr516=) c.1473A>T (p.Thr491=) c.1470A>T (p.Thr490=) c.1458A>T (p.Thr486=) | |
11 | g.22259663G>A | CA379922277 | ANO5 | c.1102G>A (p.Gly368Arg) c.1510G>A (p.Gly504Arg) n.2546G>A c.1507G>A (p.Gly503Arg) c.1552G>A (p.Gly518Arg) n.1887G>A c.1549G>A (p.Gly517Arg) c.1474G>A (p.Gly492Arg) c.1471G>A (p.Gly491Arg) c.1459G>A (p.Gly487Arg) | |
11 | g.22259663G>C | CA379922276 | ANO5 | c.1102G>C (p.Gly368Arg) c.1510G>C (p.Gly504Arg) n.2546G>C c.1507G>C (p.Gly503Arg) c.1552G>C (p.Gly518Arg) n.1887G>C c.1549G>C (p.Gly517Arg) c.1474G>C (p.Gly492Arg) c.1471G>C (p.Gly491Arg) c.1459G>C (p.Gly487Arg) | |
11 | g.22259663G>T | CA379922275 | ANO5 | c.1102G>T (p.Gly368Ter) c.1510G>T (p.Gly504Ter) n.2546G>T c.1507G>T (p.Gly503Ter) c.1552G>T (p.Gly518Ter) n.1887G>T c.1549G>T (p.Gly517Ter) c.1474G>T (p.Gly492Ter) c.1471G>T (p.Gly491Ter) c.1459G>T (p.Gly487Ter) | |
11 | g.22259664G>A | CA379922278 | ANO5 | c.1103G>A (p.Gly368Glu) c.1511G>A (p.Gly504Glu) n.2547G>A c.1508G>A (p.Gly503Glu) c.1553G>A (p.Gly518Glu) n.1888G>A c.1550G>A (p.Gly517Glu) c.1475G>A (p.Gly492Glu) c.1472G>A (p.Gly491Glu) c.1460G>A (p.Gly487Glu) | ClinVar COSMIC |
11 | g.22259664G>C | CA5923280 | ANO5 | c.1103G>C (p.Gly368Ala) c.1511G>C (p.Gly504Ala) n.2547G>C c.1508G>C (p.Gly503Ala) c.1553G>C (p.Gly518Ala) n.1888G>C c.1550G>C (p.Gly517Ala) c.1475G>C (p.Gly492Ala) c.1472G>C (p.Gly491Ala) c.1460G>C (p.Gly487Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259664G= | CA1957418767 | ANO5 | c.1103G= (p.Gly368=) c.1511G= (p.Gly504=) n.2547G= c.1508G= (p.Gly503=) c.1553G= (p.Gly518=) n.1888G= c.1550G= (p.Gly517=) c.1475G= (p.Gly492=) c.1472G= (p.Gly491=) c.1460G= (p.Gly487=) | |
11 | g.22259664G>T | CA379922279 | ANO5 | c.1103G>T (p.Gly368Val) c.1511G>T (p.Gly504Val) n.2547G>T c.1508G>T (p.Gly503Val) c.1553G>T (p.Gly518Val) n.1888G>T c.1550G>T (p.Gly517Val) c.1475G>T (p.Gly492Val) c.1472G>T (p.Gly491Val) c.1460G>T (p.Gly487Val) | |
11 | g.22259665A>C | CA473405093 | ANO5 | c.1104A>C (p.Gly368=) c.1512A>C (p.Gly504=) n.2548A>C c.1509A>C (p.Gly503=) c.1554A>C (p.Gly518=) n.1889A>C c.1551A>C (p.Gly517=) c.1476A>C (p.Gly492=) c.1473A>C (p.Gly491=) c.1461A>C (p.Gly487=) | |
11 | g.22259665A>G | CA473405094 | ANO5 | c.1104A>G (p.Gly368=) c.1512A>G (p.Gly504=) n.2548A>G c.1509A>G (p.Gly503=) c.1554A>G (p.Gly518=) n.1889A>G c.1551A>G (p.Gly517=) c.1476A>G (p.Gly492=) c.1473A>G (p.Gly491=) c.1461A>G (p.Gly487=) | |
11 | g.22259665A>T | CA473405095 | ANO5 | c.1104A>T (p.Gly368=) c.1512A>T (p.Gly504=) n.2548A>T c.1509A>T (p.Gly503=) c.1554A>T (p.Gly518=) n.1889A>T c.1551A>T (p.Gly517=) c.1476A>T (p.Gly492=) c.1473A>T (p.Gly491=) c.1461A>T (p.Gly487=) | |
11 | g.22259666T>A | CA379922280 | ANO5 | c.1105T>A (p.Ser369Thr) c.1513T>A (p.Ser505Thr) n.2549T>A c.1510T>A (p.Ser504Thr) c.1555T>A (p.Ser519Thr) n.1890T>A c.1552T>A (p.Ser518Thr) c.1477T>A (p.Ser493Thr) c.1474T>A (p.Ser492Thr) c.1462T>A (p.Ser488Thr) | |
11 | g.22259666T>C | CA379922281 | ANO5 | c.1105T>C (p.Ser369Pro) c.1513T>C (p.Ser505Pro) n.2549T>C c.1510T>C (p.Ser504Pro) c.1555T>C (p.Ser519Pro) n.1890T>C c.1552T>C (p.Ser518Pro) c.1477T>C (p.Ser493Pro) c.1474T>C (p.Ser492Pro) c.1462T>C (p.Ser488Pro) | |
11 | g.22259666T>G | CA379922282 | ANO5 | c.1105T>G (p.Ser369Ala) c.1513T>G (p.Ser505Ala) n.2549T>G c.1510T>G (p.Ser504Ala) c.1555T>G (p.Ser519Ala) n.1890T>G c.1552T>G (p.Ser518Ala) c.1477T>G (p.Ser493Ala) c.1474T>G (p.Ser492Ala) c.1462T>G (p.Ser488Ala) | |
11 | g.22259667C>A | CA379922285 | ANO5 | c.1106C>A (p.Ser369Ter) c.1514C>A (p.Ser505Ter) n.2550C>A c.1511C>A (p.Ser504Ter) c.1556C>A (p.Ser519Ter) n.1891C>A c.1553C>A (p.Ser518Ter) c.1478C>A (p.Ser493Ter) c.1475C>A (p.Ser492Ter) c.1463C>A (p.Ser488Ter) | |
11 | g.22259667C>G | CA379922283 | ANO5 | c.1106C>G (p.Ser369Ter) c.1514C>G (p.Ser505Ter) n.2550C>G c.1511C>G (p.Ser504Ter) c.1556C>G (p.Ser519Ter) n.1891C>G c.1553C>G (p.Ser518Ter) c.1478C>G (p.Ser493Ter) c.1475C>G (p.Ser492Ter) c.1463C>G (p.Ser488Ter) | |
11 | g.22259667C>T | CA379922284 | ANO5 | c.1106C>T (p.Ser369Leu) c.1514C>T (p.Ser505Leu) n.2550C>T c.1511C>T (p.Ser504Leu) c.1556C>T (p.Ser519Leu) n.1891C>T c.1553C>T (p.Ser518Leu) c.1478C>T (p.Ser493Leu) c.1475C>T (p.Ser492Leu) c.1463C>T (p.Ser488Leu) | |
11 | g.22259668A>C | CA473405096 | ANO5 | c.1107A>C (p.Ser369=) c.1515A>C (p.Ser505=) n.2551A>C c.1512A>C (p.Ser504=) c.1557A>C (p.Ser519=) n.1892A>C c.1554A>C (p.Ser518=) c.1479A>C (p.Ser493=) c.1476A>C (p.Ser492=) c.1464A>C (p.Ser488=) | |
11 | g.22259668A>G | CA473405098 | ANO5 | c.1107A>G (p.Ser369=) c.1515A>G (p.Ser505=) n.2551A>G c.1512A>G (p.Ser504=) c.1557A>G (p.Ser519=) n.1892A>G c.1554A>G (p.Ser518=) c.1479A>G (p.Ser493=) c.1476A>G (p.Ser492=) c.1464A>G (p.Ser488=) | |
11 | g.22259668A>T | CA473405097 | ANO5 | c.1107A>T (p.Ser369=) c.1515A>T (p.Ser505=) n.2551A>T c.1512A>T (p.Ser504=) c.1557A>T (p.Ser519=) n.1892A>T c.1554A>T (p.Ser518=) c.1479A>T (p.Ser493=) c.1476A>T (p.Ser492=) c.1464A>T (p.Ser488=) | |
11 | g.22259669T>A | CA379922286 | ANO5 | c.1108T>A (p.Cys370Ser) c.1516T>A (p.Cys506Ser) n.2552T>A c.1513T>A (p.Cys505Ser) c.1558T>A (p.Cys520Ser) n.1893T>A c.1555T>A (p.Cys519Ser) c.1480T>A (p.Cys494Ser) c.1477T>A (p.Cys493Ser) c.1465T>A (p.Cys489Ser) | |
11 | g.22259669T>C | CA379922287 | ANO5 | c.1108T>C (p.Cys370Arg) c.1516T>C (p.Cys506Arg) n.2552T>C c.1513T>C (p.Cys505Arg) c.1558T>C (p.Cys520Arg) n.1893T>C c.1555T>C (p.Cys519Arg) c.1480T>C (p.Cys494Arg) c.1477T>C (p.Cys493Arg) c.1465T>C (p.Cys489Arg) | |
11 | g.22259669T>G | CA379922288 | ANO5 | c.1108T>G (p.Cys370Gly) c.1516T>G (p.Cys506Gly) n.2552T>G c.1513T>G (p.Cys505Gly) c.1558T>G (p.Cys520Gly) n.1893T>G c.1555T>G (p.Cys519Gly) c.1480T>G (p.Cys494Gly) c.1477T>G (p.Cys493Gly) c.1465T>G (p.Cys489Gly) | |
11 | g.22259670G>A | CA5923281 | ANO5 | c.1109G>A (p.Cys370Tyr) c.1517G>A (p.Cys506Tyr) n.2553G>A c.1514G>A (p.Cys505Tyr) c.1559G>A (p.Cys520Tyr) n.1894G>A c.1556G>A (p.Cys519Tyr) c.1481G>A (p.Cys494Tyr) c.1478G>A (p.Cys493Tyr) c.1466G>A (p.Cys489Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259670G>C | CA379922289 | ANO5 | c.1109G>C (p.Cys370Ser) c.1517G>C (p.Cys506Ser) n.2553G>C c.1514G>C (p.Cys505Ser) c.1559G>C (p.Cys520Ser) n.1894G>C c.1556G>C (p.Cys519Ser) c.1481G>C (p.Cys494Ser) c.1478G>C (p.Cys493Ser) c.1466G>C (p.Cys489Ser) | |
11 | g.22259670G= | CA1957418768 | ANO5 | c.1109G= (p.Cys370=) c.1517G= (p.Cys506=) n.2553G= c.1514G= (p.Cys505=) c.1559G= (p.Cys520=) n.1894G= c.1556G= (p.Cys519=) c.1481G= (p.Cys494=) c.1478G= (p.Cys493=) c.1466G= (p.Cys489=) | |
11 | g.22259670G>T | CA379922290 | ANO5 | c.1109G>T (p.Cys370Phe) c.1517G>T (p.Cys506Phe) n.2553G>T c.1514G>T (p.Cys505Phe) c.1559G>T (p.Cys520Phe) n.1894G>T c.1556G>T (p.Cys519Phe) c.1481G>T (p.Cys494Phe) c.1478G>T (p.Cys493Phe) c.1466G>T (p.Cys489Phe) | |
11 | g.22259671C>A | CA379922291 | ANO5 | c.1110C>A (p.Cys370Ter) c.1518C>A (p.Cys506Ter) n.2554C>A c.1515C>A (p.Cys505Ter) c.1560C>A (p.Cys520Ter) n.1895C>A c.1557C>A (p.Cys519Ter) c.1482C>A (p.Cys494Ter) c.1479C>A (p.Cys493Ter) c.1467C>A (p.Cys489Ter) | |
11 | g.22259671C= | CA1957418769 | ANO5 | c.1110C= (p.Cys370=) c.1518C= (p.Cys506=) n.2554C= c.1515C= (p.Cys505=) c.1560C= (p.Cys520=) n.1895C= c.1557C= (p.Cys519=) c.1482C= (p.Cys494=) c.1479C= (p.Cys493=) c.1467C= (p.Cys489=) | |
11 | g.22259671C>G | CA379922292 | ANO5 | c.1110C>G (p.Cys370Trp) c.1518C>G (p.Cys506Trp) n.2554C>G c.1515C>G (p.Cys505Trp) c.1560C>G (p.Cys520Trp) n.1895C>G c.1557C>G (p.Cys519Trp) c.1482C>G (p.Cys494Trp) c.1479C>G (p.Cys493Trp) c.1467C>G (p.Cys489Trp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259671C>T | CA473405099 | ANO5 | c.1110C>T (p.Cys370=) c.1518C>T (p.Cys506=) n.2554C>T c.1515C>T (p.Cys505=) c.1560C>T (p.Cys520=) n.1895C>T c.1557C>T (p.Cys519=) c.1482C>T (p.Cys494=) c.1479C>T (p.Cys493=) c.1467C>T (p.Cys489=) | COSMIC |
11 | g.22259672T>A | CA379922293 | ANO5 | c.1111T>A (p.Leu371Met) c.1519T>A (p.Leu507Met) n.2555T>A c.1516T>A (p.Leu506Met) c.1561T>A (p.Leu521Met) n.1896T>A c.1558T>A (p.Leu520Met) c.1483T>A (p.Leu495Met) c.1480T>A (p.Leu494Met) c.1468T>A (p.Leu490Met) | |
11 | g.22259672T>C | CA473405100 | ANO5 | c.1111T>C (p.Leu371=) c.1519T>C (p.Leu507=) n.2555T>C c.1516T>C (p.Leu506=) c.1561T>C (p.Leu521=) n.1896T>C c.1558T>C (p.Leu520=) c.1483T>C (p.Leu495=) c.1480T>C (p.Leu494=) c.1468T>C (p.Leu490=) | dbSNP |
11 | g.22259672T>G | CA379922294 | ANO5 | c.1111T>G (p.Leu371Val) c.1519T>G (p.Leu507Val) n.2555T>G c.1516T>G (p.Leu506Val) c.1561T>G (p.Leu521Val) n.1896T>G c.1558T>G (p.Leu520Val) c.1483T>G (p.Leu495Val) c.1480T>G (p.Leu494Val) c.1468T>G (p.Leu490Val) | |
11 | g.22259672T= | CA1957418770 | ANO5 | c.1111T= (p.Leu371=) c.1519T= (p.Leu507=) n.2555T= c.1516T= (p.Leu506=) c.1561T= (p.Leu521=) n.1896T= c.1558T= (p.Leu520=) c.1483T= (p.Leu495=) c.1480T= (p.Leu494=) c.1468T= (p.Leu490=) | |
11 | g.22259673T>A | CA379922295 | ANO5 | c.1112T>A (p.Leu371Ter) c.1520T>A (p.Leu507Ter) n.2556T>A c.1517T>A (p.Leu506Ter) c.1562T>A (p.Leu521Ter) n.1897T>A c.1559T>A (p.Leu520Ter) c.1484T>A (p.Leu495Ter) c.1481T>A (p.Leu494Ter) c.1469T>A (p.Leu490Ter) | |
11 | g.22259673T>C | CA379922296 | ANO5 | c.1112T>C (p.Leu371Ser) c.1520T>C (p.Leu507Ser) n.2556T>C c.1517T>C (p.Leu506Ser) c.1562T>C (p.Leu521Ser) n.1897T>C c.1559T>C (p.Leu520Ser) c.1484T>C (p.Leu495Ser) c.1481T>C (p.Leu494Ser) c.1469T>C (p.Leu490Ser) | dbSNP |
11 | g.22259673T>G | CA379922297 | ANO5 | c.1112T>G (p.Leu371Trp) c.1520T>G (p.Leu507Trp) n.2556T>G c.1517T>G (p.Leu506Trp) c.1562T>G (p.Leu521Trp) n.1897T>G c.1559T>G (p.Leu520Trp) c.1484T>G (p.Leu495Trp) c.1481T>G (p.Leu494Trp) c.1469T>G (p.Leu490Trp) | |
11 | g.22259673T= | CA1957418771 | ANO5 | c.1112T= (p.Leu371=) c.1520T= (p.Leu507=) n.2556T= c.1517T= (p.Leu506=) c.1562T= (p.Leu521=) n.1897T= c.1559T= (p.Leu520=) c.1484T= (p.Leu495=) c.1481T= (p.Leu494=) c.1469T= (p.Leu490=) | |
11 | g.22259674G>A | CA5923283 | ANO5 | c.1113G>A (p.Leu371=) c.1521G>A (p.Leu507=) n.2557G>A c.1518G>A (p.Leu506=) c.1563G>A (p.Leu521=) n.1898G>A c.1560G>A (p.Leu520=) c.1485G>A (p.Leu495=) c.1482G>A (p.Leu494=) c.1470G>A (p.Leu490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.22259674G>C | CA379922298 | ANO5 | c.1113G>C (p.Leu371Phe) c.1521G>C (p.Leu507Phe) n.2557G>C c.1518G>C (p.Leu506Phe) c.1563G>C (p.Leu521Phe) n.1898G>C c.1560G>C (p.Leu520Phe) c.1485G>C (p.Leu495Phe) c.1482G>C (p.Leu494Phe) c.1470G>C (p.Leu490Phe) | gnomAD v4 |
11 | g.22259674G= | CA1957418772 | ANO5 | c.1113G= (p.Leu371=) c.1521G= (p.Leu507=) n.2557G= c.1518G= (p.Leu506=) c.1563G= (p.Leu521=) n.1898G= c.1560G= (p.Leu520=) c.1485G= (p.Leu495=) c.1482G= (p.Leu494=) c.1470G= (p.Leu490=) | |
11 | g.22259674G>T | CA5923282 | ANO5 | c.1113G>T (p.Leu371Phe) c.1521G>T (p.Leu507Phe) n.2557G>T c.1518G>T (p.Leu506Phe) c.1563G>T (p.Leu521Phe) n.1898G>T c.1560G>T (p.Leu520Phe) c.1485G>T (p.Leu495Phe) c.1482G>T (p.Leu494Phe) c.1470G>T (p.Leu490Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259675A>C | CA379922299 | ANO5 | c.1114A>C (p.Asn372His) c.1522A>C (p.Asn508His) n.2558A>C c.1519A>C (p.Asn507His) c.1564A>C (p.Asn522His) n.1899A>C c.1561A>C (p.Asn521His) c.1486A>C (p.Asn496His) c.1483A>C (p.Asn495His) c.1471A>C (p.Asn491His) | |
11 | g.22259675A>G | CA379922300 | ANO5 | c.1114A>G (p.Asn372Asp) c.1522A>G (p.Asn508Asp) n.2558A>G c.1519A>G (p.Asn507Asp) c.1564A>G (p.Asn522Asp) n.1899A>G c.1561A>G (p.Asn521Asp) c.1486A>G (p.Asn496Asp) c.1483A>G (p.Asn495Asp) c.1471A>G (p.Asn491Asp) | gnomAD v4 |
11 | g.22259675A>T | CA379922301 | ANO5 | c.1114A>T (p.Asn372Tyr) c.1522A>T (p.Asn508Tyr) n.2558A>T c.1519A>T (p.Asn507Tyr) c.1564A>T (p.Asn522Tyr) n.1899A>T c.1561A>T (p.Asn521Tyr) c.1486A>T (p.Asn496Tyr) c.1483A>T (p.Asn495Tyr) c.1471A>T (p.Asn491Tyr) | |
11 | g.22259676A>C | CA379922302 | ANO5 | c.1115A>C (p.Asn372Thr) c.1523A>C (p.Asn508Thr) n.2559A>C c.1520A>C (p.Asn507Thr) c.1565A>C (p.Asn522Thr) n.1900A>C c.1562A>C (p.Asn521Thr) c.1487A>C (p.Asn496Thr) c.1484A>C (p.Asn495Thr) c.1472A>C (p.Asn491Thr) | |
11 | g.22259676A>G | CA379922303 | ANO5 | c.1115A>G (p.Asn372Ser) c.1523A>G (p.Asn508Ser) n.2559A>G c.1520A>G (p.Asn507Ser) c.1565A>G (p.Asn522Ser) n.1900A>G c.1562A>G (p.Asn521Ser) c.1487A>G (p.Asn496Ser) c.1484A>G (p.Asn495Ser) c.1472A>G (p.Asn491Ser) | |
11 | g.22259676A>T | CA379922304 | ANO5 | c.1115A>T (p.Asn372Ile) c.1523A>T (p.Asn508Ile) n.2559A>T c.1520A>T (p.Asn507Ile) c.1565A>T (p.Asn522Ile) n.1900A>T c.1562A>T (p.Asn521Ile) c.1487A>T (p.Asn496Ile) c.1484A>T (p.Asn495Ile) c.1472A>T (p.Asn491Ile) | |
11 | g.22259677C>A | CA379922305 | ANO5 | c.1116C>A (p.Asn372Lys) c.1524C>A (p.Asn508Lys) n.2560C>A c.1521C>A (p.Asn507Lys) c.1566C>A (p.Asn522Lys) n.1901C>A c.1563C>A (p.Asn521Lys) c.1488C>A (p.Asn496Lys) c.1485C>A (p.Asn495Lys) c.1473C>A (p.Asn491Lys) | |
11 | g.22259677C>G | CA379922306 | ANO5 | c.1116C>G (p.Asn372Lys) c.1524C>G (p.Asn508Lys) n.2560C>G c.1521C>G (p.Asn507Lys) c.1566C>G (p.Asn522Lys) n.1901C>G c.1563C>G (p.Asn521Lys) c.1488C>G (p.Asn496Lys) c.1485C>G (p.Asn495Lys) c.1473C>G (p.Asn491Lys) | |
11 | g.22259677C>T | CA473405101 | ANO5 | c.1116C>T (p.Asn372=) c.1524C>T (p.Asn508=) n.2560C>T c.1521C>T (p.Asn507=) c.1566C>T (p.Asn522=) n.1901C>T c.1563C>T (p.Asn521=) c.1488C>T (p.Asn496=) c.1485C>T (p.Asn495=) c.1473C>T (p.Asn491=) | gnomAD v4 COSMIC |
11 | g.22259678T>A | CA379922307 | ANO5 | c.1117T>A (p.Phe373Ile) c.1525T>A (p.Phe509Ile) n.2561T>A c.1522T>A (p.Phe508Ile) c.1567T>A (p.Phe523Ile) n.1902T>A c.1564T>A (p.Phe522Ile) c.1489T>A (p.Phe497Ile) c.1486T>A (p.Phe496Ile) c.1474T>A (p.Phe492Ile) | |
11 | g.22259678T>C | CA379922308 | ANO5 | c.1117T>C (p.Phe373Leu) c.1525T>C (p.Phe509Leu) n.2561T>C c.1522T>C (p.Phe508Leu) c.1567T>C (p.Phe523Leu) n.1902T>C c.1564T>C (p.Phe522Leu) c.1489T>C (p.Phe497Leu) c.1486T>C (p.Phe496Leu) c.1474T>C (p.Phe492Leu) | |
11 | g.22259678T>G | CA379922309 | ANO5 | c.1117T>G (p.Phe373Val) c.1525T>G (p.Phe509Val) n.2561T>G c.1522T>G (p.Phe508Val) c.1567T>G (p.Phe523Val) n.1902T>G c.1564T>G (p.Phe522Val) c.1489T>G (p.Phe497Val) c.1486T>G (p.Phe496Val) c.1474T>G (p.Phe492Val) | ClinVar dbSNP |
11 | g.22259678T= | CA1957418773 | ANO5 | c.1117T= (p.Phe373=) c.1525T= (p.Phe509=) n.2561T= c.1522T= (p.Phe508=) c.1567T= (p.Phe523=) n.1902T= c.1564T= (p.Phe522=) c.1489T= (p.Phe497=) c.1486T= (p.Phe496=) c.1474T= (p.Phe492=) | |
11 | g.22259679T>A | CA379922310 | ANO5 | c.1118T>A (p.Phe373Tyr) c.1526T>A (p.Phe509Tyr) n.2562T>A c.1523T>A (p.Phe508Tyr) c.1568T>A (p.Phe523Tyr) n.1903T>A c.1565T>A (p.Phe522Tyr) c.1490T>A (p.Phe497Tyr) c.1487T>A (p.Phe496Tyr) c.1475T>A (p.Phe492Tyr) | |
11 | g.22259679T>C | CA379922311 | ANO5 | c.1118T>C (p.Phe373Ser) c.1526T>C (p.Phe509Ser) n.2562T>C c.1523T>C (p.Phe508Ser) c.1568T>C (p.Phe523Ser) n.1903T>C c.1565T>C (p.Phe522Ser) c.1490T>C (p.Phe497Ser) c.1487T>C (p.Phe496Ser) c.1475T>C (p.Phe492Ser) | |
11 | g.22259679T>G | CA379922312 | ANO5 | c.1118T>G (p.Phe373Cys) c.1526T>G (p.Phe509Cys) n.2562T>G c.1523T>G (p.Phe508Cys) c.1568T>G (p.Phe523Cys) n.1903T>G c.1565T>G (p.Phe522Cys) c.1490T>G (p.Phe497Cys) c.1487T>G (p.Phe496Cys) c.1475T>G (p.Phe492Cys) | |
11 | g.22259680T>A | CA379922314 | ANO5 | c.1119T>A (p.Phe373Leu) c.1527T>A (p.Phe509Leu) n.2563T>A c.1524T>A (p.Phe508Leu) c.1569T>A (p.Phe523Leu) n.1904T>A c.1566T>A (p.Phe522Leu) c.1491T>A (p.Phe497Leu) c.1488T>A (p.Phe496Leu) c.1476T>A (p.Phe492Leu) | |
11 | g.22259680T>C | CA473405102 | ANO5 | c.1119T>C (p.Phe373=) c.1527T>C (p.Phe509=) n.2563T>C c.1524T>C (p.Phe508=) c.1569T>C (p.Phe523=) n.1904T>C c.1566T>C (p.Phe522=) c.1491T>C (p.Phe497=) c.1488T>C (p.Phe496=) c.1476T>C (p.Phe492=) | dbSNP |
11 | g.22259680T>G | CA379922313 | ANO5 | c.1119T>G (p.Phe373Leu) c.1527T>G (p.Phe509Leu) n.2563T>G c.1524T>G (p.Phe508Leu) c.1569T>G (p.Phe523Leu) n.1904T>G c.1566T>G (p.Phe522Leu) c.1491T>G (p.Phe497Leu) c.1488T>G (p.Phe496Leu) c.1476T>G (p.Phe492Leu) | gnomAD v4 |
11 | g.22259681A= | CA1957418774 | ANO5 | c.1120A= (p.Ile374=) c.1528A= (p.Ile510=) n.2564A= c.1525A= (p.Ile509=) c.1570A= (p.Ile524=) n.1905A= c.1567A= (p.Ile523=) c.1492A= (p.Ile498=) c.1489A= (p.Ile497=) c.1477A= (p.Ile493=) | |
11 | g.22259681A>C | CA379922315 | ANO5 | c.1120A>C (p.Ile374Leu) c.1528A>C (p.Ile510Leu) n.2564A>C c.1525A>C (p.Ile509Leu) c.1570A>C (p.Ile524Leu) n.1905A>C c.1567A>C (p.Ile523Leu) c.1492A>C (p.Ile498Leu) c.1489A>C (p.Ile497Leu) c.1477A>C (p.Ile493Leu) | |
11 | g.22259681A>G | CA218765767 | ANO5 | c.1120A>G (p.Ile374Val) c.1528A>G (p.Ile510Val) n.2564A>G c.1525A>G (p.Ile509Val) c.1570A>G (p.Ile524Val) n.1905A>G c.1567A>G (p.Ile523Val) c.1492A>G (p.Ile498Val) c.1489A>G (p.Ile497Val) c.1477A>G (p.Ile493Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259681A>T | CA379922316 | ANO5 | c.1120A>T (p.Ile374Phe) c.1528A>T (p.Ile510Phe) n.2564A>T c.1525A>T (p.Ile509Phe) c.1570A>T (p.Ile524Phe) n.1905A>T c.1567A>T (p.Ile523Phe) c.1492A>T (p.Ile498Phe) c.1489A>T (p.Ile497Phe) c.1477A>T (p.Ile493Phe) | |
11 | g.22259682T>A | CA379922317 | ANO5 | c.1121T>A (p.Ile374Asn) c.1529T>A (p.Ile510Asn) n.2565T>A c.1526T>A (p.Ile509Asn) c.1571T>A (p.Ile524Asn) n.1906T>A c.1568T>A (p.Ile523Asn) c.1493T>A (p.Ile498Asn) c.1490T>A (p.Ile497Asn) c.1478T>A (p.Ile493Asn) | |
11 | g.22259682T>C | CA379922318 | ANO5 | c.1121T>C (p.Ile374Thr) c.1529T>C (p.Ile510Thr) n.2565T>C c.1526T>C (p.Ile509Thr) c.1571T>C (p.Ile524Thr) n.1906T>C c.1568T>C (p.Ile523Thr) c.1493T>C (p.Ile498Thr) c.1490T>C (p.Ile497Thr) c.1478T>C (p.Ile493Thr) | |
11 | g.22259682T>G | CA379922319 | ANO5 | c.1121T>G (p.Ile374Ser) c.1529T>G (p.Ile510Ser) n.2565T>G c.1526T>G (p.Ile509Ser) c.1571T>G (p.Ile524Ser) n.1906T>G c.1568T>G (p.Ile523Ser) c.1493T>G (p.Ile498Ser) c.1490T>G (p.Ile497Ser) c.1478T>G (p.Ile493Ser) | |
11 | g.22259683T>A | CA473405103 | ANO5 | c.1122T>A (p.Ile374=) c.1530T>A (p.Ile510=) n.2566T>A c.1527T>A (p.Ile509=) c.1572T>A (p.Ile524=) n.1907T>A c.1569T>A (p.Ile523=) c.1494T>A (p.Ile498=) c.1491T>A (p.Ile497=) c.1479T>A (p.Ile493=) | |
11 | g.22259683T>C | CA473405104 | ANO5 | c.1122T>C (p.Ile374=) c.1530T>C (p.Ile510=) n.2566T>C c.1527T>C (p.Ile509=) c.1572T>C (p.Ile524=) n.1907T>C c.1569T>C (p.Ile523=) c.1494T>C (p.Ile498=) c.1491T>C (p.Ile497=) c.1479T>C (p.Ile493=) | |
11 | g.22259683T>G | CA379922320 | ANO5 | c.1122T>G (p.Ile374Met) c.1530T>G (p.Ile510Met) n.2566T>G c.1527T>G (p.Ile509Met) c.1572T>G (p.Ile524Met) n.1907T>G c.1569T>G (p.Ile523Met) c.1494T>G (p.Ile498Met) c.1491T>G (p.Ile497Met) c.1479T>G (p.Ile493Met) | |
11 | g.22259684G>A | CA5923284 | ANO5 | c.1123G>A (p.Val375Ile) c.1531G>A (p.Val511Ile) n.2567G>A c.1528G>A (p.Val510Ile) c.1573G>A (p.Val525Ile) n.1908G>A c.1570G>A (p.Val524Ile) c.1495G>A (p.Val499Ile) c.1492G>A (p.Val498Ile) c.1480G>A (p.Val494Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259684G>C | CA379922321 | ANO5 | c.1123G>C (p.Val375Leu) c.1531G>C (p.Val511Leu) n.2567G>C c.1528G>C (p.Val510Leu) c.1573G>C (p.Val525Leu) n.1908G>C c.1570G>C (p.Val524Leu) c.1495G>C (p.Val499Leu) c.1492G>C (p.Val498Leu) c.1480G>C (p.Val494Leu) | |
11 | g.22259684G= | CA1957418775 | ANO5 | c.1123G= (p.Val375=) c.1531G= (p.Val511=) n.2567G= c.1528G= (p.Val510=) c.1573G= (p.Val525=) n.1908G= c.1570G= (p.Val524=) c.1495G= (p.Val499=) c.1492G= (p.Val498=) c.1480G= (p.Val494=) | |
11 | g.22259684G>T | CA379922322 | ANO5 | c.1123G>T (p.Val375Phe) c.1531G>T (p.Val511Phe) n.2567G>T c.1528G>T (p.Val510Phe) c.1573G>T (p.Val525Phe) n.1908G>T c.1570G>T (p.Val524Phe) c.1495G>T (p.Val499Phe) c.1492G>T (p.Val498Phe) c.1480G>T (p.Val494Phe) | |
11 | g.22259685T>A | CA379922323 | ANO5 | c.1124T>A (p.Val375Asp) c.1532T>A (p.Val511Asp) n.2568T>A c.1529T>A (p.Val510Asp) c.1574T>A (p.Val525Asp) n.1909T>A c.1571T>A (p.Val524Asp) c.1496T>A (p.Val499Asp) c.1493T>A (p.Val498Asp) c.1481T>A (p.Val494Asp) | |
11 | g.22259685T>C | CA379922324 | ANO5 | c.1124T>C (p.Val375Ala) c.1532T>C (p.Val511Ala) n.2568T>C c.1529T>C (p.Val510Ala) c.1574T>C (p.Val525Ala) n.1909T>C c.1571T>C (p.Val524Ala) c.1496T>C (p.Val499Ala) c.1493T>C (p.Val498Ala) c.1481T>C (p.Val494Ala) | |
11 | g.22259685T>G | CA379922325 | ANO5 | c.1124T>G (p.Val375Gly) c.1532T>G (p.Val511Gly) n.2568T>G c.1529T>G (p.Val510Gly) c.1574T>G (p.Val525Gly) n.1909T>G c.1571T>G (p.Val524Gly) c.1496T>G (p.Val499Gly) c.1493T>G (p.Val498Gly) c.1481T>G (p.Val494Gly) | |
11 | g.22259686C>A | CA473405105 | ANO5 | c.1125C>A (p.Val375=) c.1533C>A (p.Val511=) n.2569C>A c.1530C>A (p.Val510=) c.1575C>A (p.Val525=) n.1910C>A c.1572C>A (p.Val524=) c.1497C>A (p.Val499=) c.1494C>A (p.Val498=) c.1482C>A (p.Val494=) | |
11 | g.22259686C>G | CA473405106 | ANO5 | c.1125C>G (p.Val375=) c.1533C>G (p.Val511=) n.2569C>G c.1530C>G (p.Val510=) c.1575C>G (p.Val525=) n.1910C>G c.1572C>G (p.Val524=) c.1497C>G (p.Val499=) c.1494C>G (p.Val498=) c.1482C>G (p.Val494=) | |
11 | g.22259686C>T | CA473405107 | ANO5 | c.1125C>T (p.Val375=) c.1533C>T (p.Val511=) n.2569C>T c.1530C>T (p.Val510=) c.1575C>T (p.Val525=) n.1910C>T c.1572C>T (p.Val524=) c.1497C>T (p.Val499=) c.1494C>T (p.Val498=) c.1482C>T (p.Val494=) | |
11 | g.22259687A>C | CA379922328 | ANO5 | c.1126A>C (p.Ile376Leu) c.1534A>C (p.Ile512Leu) n.2570A>C c.1531A>C (p.Ile511Leu) c.1576A>C (p.Ile526Leu) n.1911A>C c.1573A>C (p.Ile525Leu) c.1498A>C (p.Ile500Leu) c.1495A>C (p.Ile499Leu) c.1483A>C (p.Ile495Leu) | ClinVar |
11 | g.22259687A>G | CA379922326 | ANO5 | c.1126A>G (p.Ile376Val) c.1534A>G (p.Ile512Val) n.2570A>G c.1531A>G (p.Ile511Val) c.1576A>G (p.Ile526Val) n.1911A>G c.1573A>G (p.Ile525Val) c.1498A>G (p.Ile500Val) c.1495A>G (p.Ile499Val) c.1483A>G (p.Ile495Val) | gnomAD v4 |
11 | g.22259687A>T | CA379922327 | ANO5 | c.1126A>T (p.Ile376Phe) c.1534A>T (p.Ile512Phe) n.2570A>T c.1531A>T (p.Ile511Phe) c.1576A>T (p.Ile526Phe) n.1911A>T c.1573A>T (p.Ile525Phe) c.1498A>T (p.Ile500Phe) c.1495A>T (p.Ile499Phe) c.1483A>T (p.Ile495Phe) | |
11 | g.22259688T>A | CA379922329 | ANO5 | c.1127T>A (p.Ile376Asn) c.1535T>A (p.Ile512Asn) n.2571T>A c.1532T>A (p.Ile511Asn) c.1577T>A (p.Ile526Asn) n.1912T>A c.1574T>A (p.Ile525Asn) c.1499T>A (p.Ile500Asn) c.1496T>A (p.Ile499Asn) c.1484T>A (p.Ile495Asn) | |
11 | g.22259688T>C | CA379922331 | ANO5 | c.1127T>C (p.Ile376Thr) c.1535T>C (p.Ile512Thr) n.2571T>C c.1532T>C (p.Ile511Thr) c.1577T>C (p.Ile526Thr) n.1912T>C c.1574T>C (p.Ile525Thr) c.1499T>C (p.Ile500Thr) c.1496T>C (p.Ile499Thr) c.1484T>C (p.Ile495Thr) | |
11 | g.22259688T>G | CA379922330 | ANO5 | c.1127T>G (p.Ile376Ser) c.1535T>G (p.Ile512Ser) n.2571T>G c.1532T>G (p.Ile511Ser) c.1577T>G (p.Ile526Ser) n.1912T>G c.1574T>G (p.Ile525Ser) c.1499T>G (p.Ile500Ser) c.1496T>G (p.Ile499Ser) c.1484T>G (p.Ile495Ser) | |
11 | g.22259689C>A | CA473405108 | ANO5 | c.1128C>A (p.Ile376=) c.1536C>A (p.Ile512=) n.2572C>A c.1533C>A (p.Ile511=) c.1578C>A (p.Ile526=) n.1913C>A c.1575C>A (p.Ile525=) c.1500C>A (p.Ile500=) c.1497C>A (p.Ile499=) c.1485C>A (p.Ile495=) | |
11 | g.22259689C= | CA1957418776 | ANO5 | c.1128C= (p.Ile376=) c.1536C= (p.Ile512=) n.2572C= c.1533C= (p.Ile511=) c.1578C= (p.Ile526=) n.1913C= c.1575C= (p.Ile525=) c.1500C= (p.Ile500=) c.1497C= (p.Ile499=) c.1485C= (p.Ile495=) | |
11 | g.22259689C>G | CA5923285 | ANO5 | c.1128C>G (p.Ile376Met) c.1536C>G (p.Ile512Met) n.2572C>G c.1533C>G (p.Ile511Met) c.1578C>G (p.Ile526Met) n.1913C>G c.1575C>G (p.Ile525Met) c.1500C>G (p.Ile500Met) c.1497C>G (p.Ile499Met) c.1485C>G (p.Ile495Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259689C>T | CA473405109 | ANO5 | c.1128C>T (p.Ile376=) c.1536C>T (p.Ile512=) n.2572C>T c.1533C>T (p.Ile511=) c.1578C>T (p.Ile526=) n.1913C>T c.1575C>T (p.Ile525=) c.1500C>T (p.Ile500=) c.1497C>T (p.Ile499=) c.1485C>T (p.Ile495=) | |
11 | g.22259690T>A | CA379922332 | ANO5 | c.1129T>A (p.Leu377Met) c.1537T>A (p.Leu513Met) n.2573T>A c.1534T>A (p.Leu512Met) c.1579T>A (p.Leu527Met) n.1914T>A c.1576T>A (p.Leu526Met) c.1501T>A (p.Leu501Met) c.1498T>A (p.Leu500Met) c.1486T>A (p.Leu496Met) | |
11 | g.22259690T>C | CA473405111 | ANO5 | c.1129T>C (p.Leu377=) c.1537T>C (p.Leu513=) n.2573T>C c.1534T>C (p.Leu512=) c.1579T>C (p.Leu527=) n.1914T>C c.1576T>C (p.Leu526=) c.1501T>C (p.Leu501=) c.1498T>C (p.Leu500=) c.1486T>C (p.Leu496=) | |
11 | g.22259690T>G | CA379922333 | ANO5 | c.1129T>G (p.Leu377Val) c.1537T>G (p.Leu513Val) n.2573T>G c.1534T>G (p.Leu512Val) c.1579T>G (p.Leu527Val) n.1914T>G c.1576T>G (p.Leu526Val) c.1501T>G (p.Leu501Val) c.1498T>G (p.Leu500Val) c.1486T>G (p.Leu496Val) | |
11 | g.22259691T>A | CA379922334 | ANO5 | c.1130T>A (p.Leu377Ter) c.1538T>A (p.Leu513Ter) n.2574T>A c.1535T>A (p.Leu512Ter) c.1580T>A (p.Leu527Ter) n.1915T>A c.1577T>A (p.Leu526Ter) c.1502T>A (p.Leu501Ter) c.1499T>A (p.Leu500Ter) c.1487T>A (p.Leu496Ter) | |
11 | g.22259691T>C | CA379922335 | ANO5 | c.1130T>C (p.Leu377Ser) c.1538T>C (p.Leu513Ser) n.2574T>C c.1535T>C (p.Leu512Ser) c.1580T>C (p.Leu527Ser) n.1915T>C c.1577T>C (p.Leu526Ser) c.1502T>C (p.Leu501Ser) c.1499T>C (p.Leu500Ser) c.1487T>C (p.Leu496Ser) | |
11 | g.22259691T>G | CA379922336 | ANO5 | c.1130T>G (p.Leu377Trp) c.1538T>G (p.Leu513Trp) n.2574T>G c.1535T>G (p.Leu512Trp) c.1580T>G (p.Leu527Trp) n.1915T>G c.1577T>G (p.Leu526Trp) c.1502T>G (p.Leu501Trp) c.1499T>G (p.Leu500Trp) c.1487T>G (p.Leu496Trp) | |
11 | g.22259692G>A | CA473405112 | ANO5 | c.1131G>A (p.Leu377=) c.1539G>A (p.Leu513=) n.2575G>A c.1536G>A (p.Leu512=) c.1581G>A (p.Leu527=) n.1916G>A c.1578G>A (p.Leu526=) c.1503G>A (p.Leu501=) c.1500G>A (p.Leu500=) c.1488G>A (p.Leu496=) | |
11 | g.22259692G>C | CA379922337 | ANO5 | c.1131G>C (p.Leu377Phe) c.1539G>C (p.Leu513Phe) n.2575G>C c.1536G>C (p.Leu512Phe) c.1581G>C (p.Leu527Phe) n.1916G>C c.1578G>C (p.Leu526Phe) c.1503G>C (p.Leu501Phe) c.1500G>C (p.Leu500Phe) c.1488G>C (p.Leu496Phe) | |
11 | g.22259692G>T | CA379922338 | ANO5 | c.1131G>T (p.Leu377Phe) c.1539G>T (p.Leu513Phe) n.2575G>T c.1536G>T (p.Leu512Phe) c.1581G>T (p.Leu527Phe) n.1916G>T c.1578G>T (p.Leu526Phe) c.1503G>T (p.Leu501Phe) c.1500G>T (p.Leu500Phe) c.1488G>T (p.Leu496Phe) | |
11 | g.22259693A>C | CA379922339 | ANO5 | c.1132A>C (p.Ile378Leu) c.1540A>C (p.Ile514Leu) n.2576A>C c.1537A>C (p.Ile513Leu) c.1582A>C (p.Ile528Leu) n.1917A>C c.1579A>C (p.Ile527Leu) c.1504A>C (p.Ile502Leu) c.1501A>C (p.Ile501Leu) c.1489A>C (p.Ile497Leu) | |
11 | g.22259693A>G | CA379922340 | ANO5 | c.1132A>G (p.Ile378Val) c.1540A>G (p.Ile514Val) n.2576A>G c.1537A>G (p.Ile513Val) c.1582A>G (p.Ile528Val) n.1917A>G c.1579A>G (p.Ile527Val) c.1504A>G (p.Ile502Val) c.1501A>G (p.Ile501Val) c.1489A>G (p.Ile497Val) | |
11 | g.22259693A>T | CA379922341 | ANO5 | c.1132A>T (p.Ile378Phe) c.1540A>T (p.Ile514Phe) n.2576A>T c.1537A>T (p.Ile513Phe) c.1582A>T (p.Ile528Phe) n.1917A>T c.1579A>T (p.Ile527Phe) c.1504A>T (p.Ile502Phe) c.1501A>T (p.Ile501Phe) c.1489A>T (p.Ile497Phe) | |
11 | g.22259694T>A | CA379922344 | ANO5 | c.1133T>A (p.Ile378Asn) c.1541T>A (p.Ile514Asn) n.2577T>A c.1538T>A (p.Ile513Asn) c.1583T>A (p.Ile528Asn) n.1918T>A c.1580T>A (p.Ile527Asn) c.1505T>A (p.Ile502Asn) c.1502T>A (p.Ile501Asn) c.1490T>A (p.Ile497Asn) | |
11 | g.22259694T>C | CA379922343 | ANO5 | c.1133T>C (p.Ile378Thr) c.1541T>C (p.Ile514Thr) n.2577T>C c.1538T>C (p.Ile513Thr) c.1583T>C (p.Ile528Thr) n.1918T>C c.1580T>C (p.Ile527Thr) c.1505T>C (p.Ile502Thr) c.1502T>C (p.Ile501Thr) c.1490T>C (p.Ile497Thr) | |
11 | g.22259694T>G | CA379922342 | ANO5 | c.1133T>G (p.Ile378Ser) c.1541T>G (p.Ile514Ser) n.2577T>G c.1538T>G (p.Ile513Ser) c.1583T>G (p.Ile528Ser) n.1918T>G c.1580T>G (p.Ile527Ser) c.1505T>G (p.Ile502Ser) c.1502T>G (p.Ile501Ser) c.1490T>G (p.Ile497Ser) | |
11 | g.22259695C>A | CA5923286 | ANO5 | c.1134C>A (p.Ile378=) c.1542C>A (p.Ile514=) n.2578C>A c.1539C>A (p.Ile513=) c.1584C>A (p.Ile528=) n.1919C>A c.1581C>A (p.Ile527=) c.1506C>A (p.Ile502=) c.1503C>A (p.Ile501=) c.1491C>A (p.Ile497=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259695C= | CA1957418777 | ANO5 | c.1134C= (p.Ile378=) c.1542C= (p.Ile514=) n.2578C= c.1539C= (p.Ile513=) c.1584C= (p.Ile528=) n.1919C= c.1581C= (p.Ile527=) c.1506C= (p.Ile502=) c.1503C= (p.Ile501=) c.1491C= (p.Ile497=) | |
11 | g.22259695C>G | CA379922345 | ANO5 | c.1134C>G (p.Ile378Met) c.1542C>G (p.Ile514Met) n.2578C>G c.1539C>G (p.Ile513Met) c.1584C>G (p.Ile528Met) n.1919C>G c.1581C>G (p.Ile527Met) c.1506C>G (p.Ile502Met) c.1503C>G (p.Ile501Met) c.1491C>G (p.Ile497Met) | |
11 | g.22259695C>T | CA473405113 | ANO5 | c.1134C>T (p.Ile378=) c.1542C>T (p.Ile514=) n.2578C>T c.1539C>T (p.Ile513=) c.1584C>T (p.Ile528=) n.1919C>T c.1581C>T (p.Ile527=) c.1506C>T (p.Ile502=) c.1503C>T (p.Ile501=) c.1491C>T (p.Ile497=) | gnomAD v4 |
11 | g.22259696T>A | CA379922346 | ANO5 | c.1135T>A (p.Leu379Met) c.1543T>A (p.Leu515Met) n.2579T>A c.1540T>A (p.Leu514Met) c.1585T>A (p.Leu529Met) n.1920T>A c.1582T>A (p.Leu528Met) c.1507T>A (p.Leu503Met) c.1504T>A (p.Leu502Met) c.1492T>A (p.Leu498Met) | |
11 | g.22259696T>C | CA473405114 | ANO5 | c.1135T>C (p.Leu379=) c.1543T>C (p.Leu515=) n.2579T>C c.1540T>C (p.Leu514=) c.1585T>C (p.Leu529=) n.1920T>C c.1582T>C (p.Leu528=) c.1507T>C (p.Leu503=) c.1504T>C (p.Leu502=) c.1492T>C (p.Leu498=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259696T>G | CA379922347 | ANO5 | c.1135T>G (p.Leu379Val) c.1543T>G (p.Leu515Val) n.2579T>G c.1540T>G (p.Leu514Val) c.1585T>G (p.Leu529Val) n.1920T>G c.1582T>G (p.Leu528Val) c.1507T>G (p.Leu503Val) c.1504T>G (p.Leu502Val) c.1492T>G (p.Leu498Val) | |
11 | g.22259696T= | CA1957418778 | ANO5 | c.1135T= (p.Leu379=) c.1543T= (p.Leu515=) n.2579T= c.1540T= (p.Leu514=) c.1585T= (p.Leu529=) n.1920T= c.1582T= (p.Leu528=) c.1507T= (p.Leu503=) c.1504T= (p.Leu502=) c.1492T= (p.Leu498=) | |
11 | g.22259697T>A | CA379922348 | ANO5 | c.1136T>A (p.Leu379Ter) c.1544T>A (p.Leu515Ter) n.2580T>A c.1541T>A (p.Leu514Ter) c.1586T>A (p.Leu529Ter) n.1921T>A c.1583T>A (p.Leu528Ter) c.1508T>A (p.Leu503Ter) c.1505T>A (p.Leu502Ter) c.1493T>A (p.Leu498Ter) | |
11 | g.22259697T>C | CA5923287 | ANO5 | c.1136T>C (p.Leu379Ser) c.1544T>C (p.Leu515Ser) n.2580T>C c.1541T>C (p.Leu514Ser) c.1586T>C (p.Leu529Ser) n.1921T>C c.1583T>C (p.Leu528Ser) c.1508T>C (p.Leu503Ser) c.1505T>C (p.Leu502Ser) c.1493T>C (p.Leu498Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259697T>G | CA379922349 | ANO5 | c.1136T>G (p.Leu379Trp) c.1544T>G (p.Leu515Trp) n.2580T>G c.1541T>G (p.Leu514Trp) c.1586T>G (p.Leu529Trp) n.1921T>G c.1583T>G (p.Leu528Trp) c.1508T>G (p.Leu503Trp) c.1505T>G (p.Leu502Trp) c.1493T>G (p.Leu498Trp) | |
11 | g.22259697T= | CA1957418779 | ANO5 | c.1136T= (p.Leu379=) c.1544T= (p.Leu515=) n.2580T= c.1541T= (p.Leu514=) c.1586T= (p.Leu529=) n.1921T= c.1583T= (p.Leu528=) c.1508T= (p.Leu503=) c.1505T= (p.Leu502=) c.1493T= (p.Leu498=) | |
11 | g.22259698G>A | CA473405115 | ANO5 | c.1137G>A (p.Leu379=) c.1545G>A (p.Leu515=) n.2581G>A c.1542G>A (p.Leu514=) c.1587G>A (p.Leu529=) n.1922G>A c.1584G>A (p.Leu528=) c.1509G>A (p.Leu503=) c.1506G>A (p.Leu502=) c.1494G>A (p.Leu498=) | |
11 | g.22259698G>C | CA379922350 | ANO5 | c.1137G>C (p.Leu379Phe) c.1545G>C (p.Leu515Phe) n.2581G>C c.1542G>C (p.Leu514Phe) c.1587G>C (p.Leu529Phe) n.1922G>C c.1584G>C (p.Leu528Phe) c.1509G>C (p.Leu503Phe) c.1506G>C (p.Leu502Phe) c.1494G>C (p.Leu498Phe) | |
11 | g.22259698G= | CA1957418780 | ANO5 | c.1137G= (p.Leu379=) c.1545G= (p.Leu515=) n.2581G= c.1542G= (p.Leu514=) c.1587G= (p.Leu529=) n.1922G= c.1584G= (p.Leu528=) c.1509G= (p.Leu503=) c.1506G= (p.Leu502=) c.1494G= (p.Leu498=) | |
11 | g.22259698G>T | CA379922351 | ANO5 | c.1137G>T (p.Leu379Phe) c.1545G>T (p.Leu515Phe) n.2581G>T c.1542G>T (p.Leu514Phe) c.1587G>T (p.Leu529Phe) n.1922G>T c.1584G>T (p.Leu528Phe) c.1509G>T (p.Leu503Phe) c.1506G>T (p.Leu502Phe) c.1494G>T (p.Leu498Phe) | dbSNP gnomAD v4 |
11 | g.22259699A>C | CA379922352 | ANO5 | c.1138A>C (p.Asn380His) c.1546A>C (p.Asn516His) n.2582A>C c.1543A>C (p.Asn515His) c.1588A>C (p.Asn530His) n.1923A>C c.1585A>C (p.Asn529His) c.1510A>C (p.Asn504His) c.1507A>C (p.Asn503His) c.1495A>C (p.Asn499His) | |
11 | g.22259699A>G | CA379922353 | ANO5 | c.1138A>G (p.Asn380Asp) c.1546A>G (p.Asn516Asp) n.2582A>G c.1543A>G (p.Asn515Asp) c.1588A>G (p.Asn530Asp) n.1923A>G c.1585A>G (p.Asn529Asp) c.1510A>G (p.Asn504Asp) c.1507A>G (p.Asn503Asp) c.1495A>G (p.Asn499Asp) | |
11 | g.22259699A>T | CA379922354 | ANO5 | c.1138A>T (p.Asn380Tyr) c.1546A>T (p.Asn516Tyr) n.2582A>T c.1543A>T (p.Asn515Tyr) c.1588A>T (p.Asn530Tyr) n.1923A>T c.1585A>T (p.Asn529Tyr) c.1510A>T (p.Asn504Tyr) c.1507A>T (p.Asn503Tyr) c.1495A>T (p.Asn499Tyr) | |
11 | g.22259700A>C | CA379922357 | ANO5 | c.1139A>C (p.Asn380Thr) c.1547A>C (p.Asn516Thr) n.2583A>C c.1544A>C (p.Asn515Thr) c.1589A>C (p.Asn530Thr) n.1924A>C c.1586A>C (p.Asn529Thr) c.1511A>C (p.Asn504Thr) c.1508A>C (p.Asn503Thr) c.1496A>C (p.Asn499Thr) | |
11 | g.22259700A>G | CA379922356 | ANO5 | c.1139A>G (p.Asn380Ser) c.1547A>G (p.Asn516Ser) n.2583A>G c.1544A>G (p.Asn515Ser) c.1589A>G (p.Asn530Ser) n.1924A>G c.1586A>G (p.Asn529Ser) c.1511A>G (p.Asn504Ser) c.1508A>G (p.Asn503Ser) c.1496A>G (p.Asn499Ser) | |
11 | g.22259700A>T | CA379922355 | ANO5 | c.1139A>T (p.Asn380Ile) c.1547A>T (p.Asn516Ile) n.2583A>T c.1544A>T (p.Asn515Ile) c.1589A>T (p.Asn530Ile) n.1924A>T c.1586A>T (p.Asn529Ile) c.1511A>T (p.Asn504Ile) c.1508A>T (p.Asn503Ile) c.1496A>T (p.Asn499Ile) | |
11 | g.22259701T>A | CA379922359 | ANO5 | c.1140T>A (p.Asn380Lys) c.1548T>A (p.Asn516Lys) n.2584T>A c.1545T>A (p.Asn515Lys) c.1590T>A (p.Asn530Lys) n.1925T>A c.1587T>A (p.Asn529Lys) c.1512T>A (p.Asn504Lys) c.1509T>A (p.Asn503Lys) c.1497T>A (p.Asn499Lys) | |
11 | g.22259701T>C | CA473405116 | ANO5 | c.1140T>C (p.Asn380=) c.1548T>C (p.Asn516=) n.2584T>C c.1545T>C (p.Asn515=) c.1590T>C (p.Asn530=) n.1925T>C c.1587T>C (p.Asn529=) c.1512T>C (p.Asn504=) c.1509T>C (p.Asn503=) c.1497T>C (p.Asn499=) | |
11 | g.22259701T>G | CA379922358 | ANO5 | c.1140T>G (p.Asn380Lys) c.1548T>G (p.Asn516Lys) n.2584T>G c.1545T>G (p.Asn515Lys) c.1590T>G (p.Asn530Lys) n.1925T>G c.1587T>G (p.Asn529Lys) c.1512T>G (p.Asn504Lys) c.1509T>G (p.Asn503Lys) c.1497T>G (p.Asn499Lys) | |
11 | g.22259704_22259708del | CA2573053479 | ANO5 | c.1143_1147del (p.Phe381LeufsTer2) c.1551_1555del (p.Phe517LeufsTer2) n.2587_2591del c.1548_1552del (p.Phe516LeufsTer2) c.1593_1597del (p.Phe531LeufsTer2) n.1928_1932del c.1590_1594del (p.Phe530LeufsTer2) c.1515_1519del (p.Phe505LeufsTer2) c.1512_1516del (p.Phe504LeufsTer2) c.1500_1504del (p.Phe500LeufsTer2) | ClinVar dbSNP |
11 | g.22259702T>A | CA379922360 | ANO5 | c.1141T>A (p.Phe381Ile) c.1549T>A (p.Phe517Ile) n.2585T>A c.1546T>A (p.Phe516Ile) c.1591T>A (p.Phe531Ile) n.1926T>A c.1588T>A (p.Phe530Ile) c.1513T>A (p.Phe505Ile) c.1510T>A (p.Phe504Ile) c.1498T>A (p.Phe500Ile) | |
11 | g.22259702T>C | CA379922361 | ANO5 | c.1141T>C (p.Phe381Leu) c.1549T>C (p.Phe517Leu) n.2585T>C c.1546T>C (p.Phe516Leu) c.1591T>C (p.Phe531Leu) n.1926T>C c.1588T>C (p.Phe530Leu) c.1513T>C (p.Phe505Leu) c.1510T>C (p.Phe504Leu) c.1498T>C (p.Phe500Leu) | |
11 | g.22259702T>G | CA379922362 | ANO5 | c.1141T>G (p.Phe381Val) c.1549T>G (p.Phe517Val) n.2585T>G c.1546T>G (p.Phe516Val) c.1591T>G (p.Phe531Val) n.1926T>G c.1588T>G (p.Phe530Val) c.1513T>G (p.Phe505Val) c.1510T>G (p.Phe504Val) c.1498T>G (p.Phe500Val) | |
11 | g.22259703T>A | CA379922363 | ANO5 | c.1142T>A (p.Phe381Tyr) c.1550T>A (p.Phe517Tyr) n.2586T>A c.1547T>A (p.Phe516Tyr) c.1592T>A (p.Phe531Tyr) n.1927T>A c.1589T>A (p.Phe530Tyr) c.1514T>A (p.Phe505Tyr) c.1511T>A (p.Phe504Tyr) c.1499T>A (p.Phe500Tyr) | |
11 | g.22259703T>C | CA379922364 | ANO5 | c.1142T>C (p.Phe381Ser) c.1550T>C (p.Phe517Ser) n.2586T>C c.1547T>C (p.Phe516Ser) c.1592T>C (p.Phe531Ser) n.1927T>C c.1589T>C (p.Phe530Ser) c.1514T>C (p.Phe505Ser) c.1511T>C (p.Phe504Ser) c.1499T>C (p.Phe500Ser) | |
11 | g.22259703T>G | CA379922365 | ANO5 | c.1142T>G (p.Phe381Cys) c.1550T>G (p.Phe517Cys) n.2586T>G c.1547T>G (p.Phe516Cys) c.1592T>G (p.Phe531Cys) n.1927T>G c.1589T>G (p.Phe530Cys) c.1514T>G (p.Phe505Cys) c.1511T>G (p.Phe504Cys) c.1499T>G (p.Phe500Cys) | |
11 | g.22259704C>A | CA379922366 | ANO5 | c.1143C>A (p.Phe381Leu) c.1551C>A (p.Phe517Leu) n.2587C>A c.1548C>A (p.Phe516Leu) c.1593C>A (p.Phe531Leu) n.1928C>A c.1590C>A (p.Phe530Leu) c.1515C>A (p.Phe505Leu) c.1512C>A (p.Phe504Leu) c.1500C>A (p.Phe500Leu) | |
11 | g.22259704C>G | CA379922367 | ANO5 | c.1143C>G (p.Phe381Leu) c.1551C>G (p.Phe517Leu) n.2587C>G c.1548C>G (p.Phe516Leu) c.1593C>G (p.Phe531Leu) n.1928C>G c.1590C>G (p.Phe530Leu) c.1515C>G (p.Phe505Leu) c.1512C>G (p.Phe504Leu) c.1500C>G (p.Phe500Leu) | |
11 | g.22259704C>T | CA473405117 | ANO5 | c.1143C>T (p.Phe381=) c.1551C>T (p.Phe517=) n.2587C>T c.1548C>T (p.Phe516=) c.1593C>T (p.Phe531=) n.1928C>T c.1590C>T (p.Phe530=) c.1515C>T (p.Phe505=) c.1512C>T (p.Phe504=) c.1500C>T (p.Phe500=) | COSMIC |
11 | g.22259705T>A | CA379922368 | ANO5 | c.1144T>A (p.Phe382Ile) c.1552T>A (p.Phe518Ile) n.2588T>A c.1549T>A (p.Phe517Ile) c.1594T>A (p.Phe532Ile) n.1929T>A c.1591T>A (p.Phe531Ile) c.1516T>A (p.Phe506Ile) c.1513T>A (p.Phe505Ile) c.1501T>A (p.Phe501Ile) | |
11 | g.22259705T>C | CA5923288 | ANO5 | c.1144T>C (p.Phe382Leu) c.1552T>C (p.Phe518Leu) n.2588T>C c.1549T>C (p.Phe517Leu) c.1594T>C (p.Phe532Leu) n.1929T>C c.1591T>C (p.Phe531Leu) c.1516T>C (p.Phe506Leu) c.1513T>C (p.Phe505Leu) c.1501T>C (p.Phe501Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259705T>G | CA379922369 | ANO5 | c.1144T>G (p.Phe382Val) c.1552T>G (p.Phe518Val) n.2588T>G c.1549T>G (p.Phe517Val) c.1594T>G (p.Phe532Val) n.1929T>G c.1591T>G (p.Phe531Val) c.1516T>G (p.Phe506Val) c.1513T>G (p.Phe505Val) c.1501T>G (p.Phe501Val) | |
11 | g.22259705T= | CA1957418781 | ANO5 | c.1144T= (p.Phe382=) c.1552T= (p.Phe518=) n.2588T= c.1549T= (p.Phe517=) c.1594T= (p.Phe532=) n.1929T= c.1591T= (p.Phe531=) c.1516T= (p.Phe506=) c.1513T= (p.Phe505=) c.1501T= (p.Phe501=) | |
11 | g.22259708del | CA2612837731 | ANO5 | c.1147del (p.Tyr383MetfsTer26) c.1555del (p.Tyr519MetfsTer26) n.2591del c.1552del (p.Tyr518MetfsTer26) c.1597del (p.Tyr533MetfsTer26) n.1932del c.1594del (p.Tyr532MetfsTer26) c.1519del (p.Tyr507MetfsTer26) c.1516del (p.Tyr506MetfsTer26) c.1504del (p.Tyr502MetfsTer26) | gnomAD v4 |
11 | g.22259706T>A | CA379922372 | ANO5 | c.1145T>A (p.Phe382Tyr) c.1553T>A (p.Phe518Tyr) n.2589T>A c.1550T>A (p.Phe517Tyr) c.1595T>A (p.Phe532Tyr) n.1930T>A c.1592T>A (p.Phe531Tyr) c.1517T>A (p.Phe506Tyr) c.1514T>A (p.Phe505Tyr) c.1502T>A (p.Phe501Tyr) | |
11 | g.22259706T>C | CA379922371 | ANO5 | c.1145T>C (p.Phe382Ser) c.1553T>C (p.Phe518Ser) n.2589T>C c.1550T>C (p.Phe517Ser) c.1595T>C (p.Phe532Ser) n.1930T>C c.1592T>C (p.Phe531Ser) c.1517T>C (p.Phe506Ser) c.1514T>C (p.Phe505Ser) c.1502T>C (p.Phe501Ser) | ClinVar gnomAD v4 |
11 | g.22259706T>G | CA379922370 | ANO5 | c.1145T>G (p.Phe382Cys) c.1553T>G (p.Phe518Cys) n.2589T>G c.1550T>G (p.Phe517Cys) c.1595T>G (p.Phe532Cys) n.1930T>G c.1592T>G (p.Phe531Cys) c.1517T>G (p.Phe506Cys) c.1514T>G (p.Phe505Cys) c.1502T>G (p.Phe501Cys) | |
11 | g.22259707T>A | CA379922373 | ANO5 | c.1146T>A (p.Phe382Leu) c.1554T>A (p.Phe518Leu) n.2590T>A c.1551T>A (p.Phe517Leu) c.1596T>A (p.Phe532Leu) n.1931T>A c.1593T>A (p.Phe531Leu) c.1518T>A (p.Phe506Leu) c.1515T>A (p.Phe505Leu) c.1503T>A (p.Phe501Leu) | |
11 | g.22259707T>C | CA473405118 | ANO5 | c.1146T>C (p.Phe382=) c.1554T>C (p.Phe518=) n.2590T>C c.1551T>C (p.Phe517=) c.1596T>C (p.Phe532=) n.1931T>C c.1593T>C (p.Phe531=) c.1518T>C (p.Phe506=) c.1515T>C (p.Phe505=) c.1503T>C (p.Phe501=) | gnomAD v4 |
11 | g.22259707T>G | CA379922374 | ANO5 | c.1146T>G (p.Phe382Leu) c.1554T>G (p.Phe518Leu) n.2590T>G c.1551T>G (p.Phe517Leu) c.1596T>G (p.Phe532Leu) n.1931T>G c.1593T>G (p.Phe531Leu) c.1518T>G (p.Phe506Leu) c.1515T>G (p.Phe505Leu) c.1503T>G (p.Phe501Leu) | |
11 | g.22259708T>A | CA379922375 | ANO5 | c.1147T>A (p.Tyr383Asn) c.1555T>A (p.Tyr519Asn) n.2591T>A c.1552T>A (p.Tyr518Asn) c.1597T>A (p.Tyr533Asn) n.1932T>A c.1594T>A (p.Tyr532Asn) c.1519T>A (p.Tyr507Asn) c.1516T>A (p.Tyr506Asn) c.1504T>A (p.Tyr502Asn) | |
11 | g.22259708T>C | CA379922376 | ANO5 | c.1147T>C (p.Tyr383His) c.1555T>C (p.Tyr519His) n.2591T>C c.1552T>C (p.Tyr518His) c.1597T>C (p.Tyr533His) n.1932T>C c.1594T>C (p.Tyr532His) c.1519T>C (p.Tyr507His) c.1516T>C (p.Tyr506His) c.1504T>C (p.Tyr502His) | ClinVar dbSNP |
11 | g.22259708T>G | CA379922377 | ANO5 | c.1147T>G (p.Tyr383Asp) c.1555T>G (p.Tyr519Asp) n.2591T>G c.1552T>G (p.Tyr518Asp) c.1597T>G (p.Tyr533Asp) n.1932T>G c.1594T>G (p.Tyr532Asp) c.1519T>G (p.Tyr507Asp) c.1516T>G (p.Tyr506Asp) c.1504T>G (p.Tyr502Asp) | |
11 | g.22259708T= | CA1957418782 | ANO5 | c.1147T= (p.Tyr383=) c.1555T= (p.Tyr519=) n.2591T= c.1552T= (p.Tyr518=) c.1597T= (p.Tyr533=) n.1932T= c.1594T= (p.Tyr532=) c.1519T= (p.Tyr507=) c.1516T= (p.Tyr506=) c.1504T= (p.Tyr502=) | |
11 | g.22259709A= | CA1957418783 | ANO5 | c.1148A= (p.Tyr383=) c.1556A= (p.Tyr519=) n.2592A= c.1553A= (p.Tyr518=) c.1598A= (p.Tyr533=) n.1933A= c.1595A= (p.Tyr532=) c.1520A= (p.Tyr507=) c.1517A= (p.Tyr506=) c.1505A= (p.Tyr502=) | |
11 | g.22259709A>C | CA379922378 | ANO5 | c.1148A>C (p.Tyr383Ser) c.1556A>C (p.Tyr519Ser) n.2592A>C c.1553A>C (p.Tyr518Ser) c.1598A>C (p.Tyr533Ser) n.1933A>C c.1595A>C (p.Tyr532Ser) c.1520A>C (p.Tyr507Ser) c.1517A>C (p.Tyr506Ser) c.1505A>C (p.Tyr502Ser) | |
11 | g.22259709A>G | CA5923289 | ANO5 | c.1148A>G (p.Tyr383Cys) c.1556A>G (p.Tyr519Cys) n.2592A>G c.1553A>G (p.Tyr518Cys) c.1598A>G (p.Tyr533Cys) n.1933A>G c.1595A>G (p.Tyr532Cys) c.1520A>G (p.Tyr507Cys) c.1517A>G (p.Tyr506Cys) c.1505A>G (p.Tyr502Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259709A>T | CA379922379 | ANO5 | c.1148A>T (p.Tyr383Phe) c.1556A>T (p.Tyr519Phe) n.2592A>T c.1553A>T (p.Tyr518Phe) c.1598A>T (p.Tyr533Phe) n.1933A>T c.1595A>T (p.Tyr532Phe) c.1520A>T (p.Tyr507Phe) c.1517A>T (p.Tyr506Phe) c.1505A>T (p.Tyr502Phe) | |
11 | g.22259710T>A | CA379922380 | ANO5 | c.1149T>A (p.Tyr383Ter) c.1557T>A (p.Tyr519Ter) n.2593T>A c.1554T>A (p.Tyr518Ter) c.1599T>A (p.Tyr533Ter) n.1934T>A c.1596T>A (p.Tyr532Ter) c.1521T>A (p.Tyr507Ter) c.1518T>A (p.Tyr506Ter) c.1506T>A (p.Tyr502Ter) | |
11 | g.22259710T>C | CA473405119 | ANO5 | c.1149T>C (p.Tyr383=) c.1557T>C (p.Tyr519=) n.2593T>C c.1554T>C (p.Tyr518=) c.1599T>C (p.Tyr533=) n.1934T>C c.1596T>C (p.Tyr532=) c.1521T>C (p.Tyr507=) c.1518T>C (p.Tyr506=) c.1506T>C (p.Tyr502=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259710T>G | CA379922381 | ANO5 | c.1149T>G (p.Tyr383Ter) c.1557T>G (p.Tyr519Ter) n.2593T>G c.1554T>G (p.Tyr518Ter) c.1599T>G (p.Tyr533Ter) n.1934T>G c.1596T>G (p.Tyr532Ter) c.1521T>G (p.Tyr507Ter) c.1518T>G (p.Tyr506Ter) c.1506T>G (p.Tyr502Ter) | |
11 | g.22259710T= | CA1957418784 | ANO5 | c.1149T= (p.Tyr383=) c.1557T= (p.Tyr519=) n.2593T= c.1554T= (p.Tyr518=) c.1599T= (p.Tyr533=) n.1934T= c.1596T= (p.Tyr532=) c.1521T= (p.Tyr507=) c.1518T= (p.Tyr506=) c.1506T= (p.Tyr502=) | |
11 | g.22259710_22259711insTAAATAGG | CA2546299826 | ANO5 | c.1149_1150insTAAATAGG (p.Glu384Ter) c.1557_1558insTAAATAGG (p.Glu520Ter) n.2593_2594insTAAATAGG c.1554_1555insTAAATAGG (p.Glu519Ter) c.1599_1600insTAAATAGG (p.Glu534Ter) n.1934_1935insTAAATAGG c.1596_1597insTAAATAGG (p.Glu533Ter) c.1521_1522insTAAATAGG (p.Glu508Ter) c.1518_1519insTAAATAGG (p.Glu507Ter) c.1506_1507insTAAATAGG (p.Glu503Ter) | |
11 | g.22259711G>A | CA379922382 | ANO5 | c.1150G>A (p.Glu384Lys) c.1558G>A (p.Glu520Lys) n.2594G>A c.1555G>A (p.Glu519Lys) c.1600G>A (p.Glu534Lys) n.1935G>A c.1597G>A (p.Glu533Lys) c.1522G>A (p.Glu508Lys) c.1519G>A (p.Glu507Lys) c.1507G>A (p.Glu503Lys) | |
11 | g.22259711G>C | CA379922383 | ANO5 | c.1150G>C (p.Glu384Gln) c.1558G>C (p.Glu520Gln) n.2594G>C c.1555G>C (p.Glu519Gln) c.1600G>C (p.Glu534Gln) n.1935G>C c.1597G>C (p.Glu533Gln) c.1522G>C (p.Glu508Gln) c.1519G>C (p.Glu507Gln) c.1507G>C (p.Glu503Gln) | |
11 | g.22259711G>T | CA379922384 | ANO5 | c.1150G>T (p.Glu384Ter) c.1558G>T (p.Glu520Ter) n.2594G>T c.1555G>T (p.Glu519Ter) c.1600G>T (p.Glu534Ter) n.1935G>T c.1597G>T (p.Glu533Ter) c.1522G>T (p.Glu508Ter) c.1519G>T (p.Glu507Ter) c.1507G>T (p.Glu503Ter) | |
11 | g.22259712A= | CA1957418785 | ANO5 | c.1151A= (p.Glu384=) c.1559A= (p.Glu520=) n.2595A= c.1556A= (p.Glu519=) c.1601A= (p.Glu534=) n.1936A= c.1598A= (p.Glu533=) c.1523A= (p.Glu508=) c.1520A= (p.Glu507=) c.1508A= (p.Glu503=) | |
11 | g.22259712A>C | CA379922385 | ANO5 | c.1151A>C (p.Glu384Ala) c.1559A>C (p.Glu520Ala) n.2595A>C c.1556A>C (p.Glu519Ala) c.1601A>C (p.Glu534Ala) n.1936A>C c.1598A>C (p.Glu533Ala) c.1523A>C (p.Glu508Ala) c.1520A>C (p.Glu507Ala) c.1508A>C (p.Glu503Ala) | |
11 | g.22259712A>G | CA379922386 | ANO5 | c.1151A>G (p.Glu384Gly) c.1559A>G (p.Glu520Gly) n.2595A>G c.1556A>G (p.Glu519Gly) c.1601A>G (p.Glu534Gly) n.1936A>G c.1598A>G (p.Glu533Gly) c.1523A>G (p.Glu508Gly) c.1520A>G (p.Glu507Gly) c.1508A>G (p.Glu503Gly) | |
11 | g.22259712A>T | CA5923290 | ANO5 | c.1151A>T (p.Glu384Val) c.1559A>T (p.Glu520Val) n.2595A>T c.1556A>T (p.Glu519Val) c.1601A>T (p.Glu534Val) n.1936A>T c.1598A>T (p.Glu533Val) c.1523A>T (p.Glu508Val) c.1520A>T (p.Glu507Val) c.1508A>T (p.Glu503Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259713A= | CA1957418786 | ANO5 | c.1152A= (p.Glu384=) c.1560A= (p.Glu520=) n.2596A= c.1557A= (p.Glu519=) c.1602A= (p.Glu534=) n.1937A= c.1599A= (p.Glu533=) c.1524A= (p.Glu508=) c.1521A= (p.Glu507=) c.1509A= (p.Glu503=) | |
11 | g.22259713A>C | CA379922387 | ANO5 | c.1152A>C (p.Glu384Asp) c.1560A>C (p.Glu520Asp) n.2596A>C c.1557A>C (p.Glu519Asp) c.1602A>C (p.Glu534Asp) n.1937A>C c.1599A>C (p.Glu533Asp) c.1524A>C (p.Glu508Asp) c.1521A>C (p.Glu507Asp) c.1509A>C (p.Glu503Asp) | |
11 | g.22259713A>G | CA473405120 | ANO5 | c.1152A>G (p.Glu384=) c.1560A>G (p.Glu520=) n.2596A>G c.1557A>G (p.Glu519=) c.1602A>G (p.Glu534=) n.1937A>G c.1599A>G (p.Glu533=) c.1524A>G (p.Glu508=) c.1521A>G (p.Glu507=) c.1509A>G (p.Glu503=) | gnomAD v4 |
11 | g.22259713A>T | CA218765787 | ANO5 | c.1152A>T (p.Glu384Asp) c.1560A>T (p.Glu520Asp) n.2596A>T c.1557A>T (p.Glu519Asp) c.1602A>T (p.Glu534Asp) n.1937A>T c.1599A>T (p.Glu533Asp) c.1524A>T (p.Glu508Asp) c.1521A>T (p.Glu507Asp) c.1509A>T (p.Glu503Asp) | dbSNP |
11 | g.22259713_22259714insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA | CA2524703748 | ANO5 | c.1152_1153insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA (p.Glu384_Lys385insSerPheProHisCysLeuPhePheSerGlyLeuSer) c.1560_1561insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA (p.Glu520_Lys521insSerPheProHisCysLeuPhePheSerGlyLeuSer) n.2596_2597insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA c.1557_1558insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA (p.Glu519_Lys520insSerPheProHisCysLeuPhePheSerGlyLeuSer) c.1602_1603insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA (p.Glu534_Lys535insSerPheProHisCysLeuPhePheSerGlyLeuSer) n.1937_1938insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA c.1599_1600insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA (p.Glu533_Lys534insSerPheProHisCysLeuPhePheSerGlyLeuSer) c.1524_1525insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA (p.Glu508_Lys509insSerPheProHisCysLeuPhePheSerGlyLeuSer) c.1521_1522insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA (p.Glu507_Lys508insSerPheProHisCysLeuPhePheSerGlyLeuSer) c.1509_1510insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCA (p.Glu503_Lys504insSerPheProHisCysLeuPhePheSerGlyLeuSer) | |
11 | g.22259714A= | CA1957418787 | ANO5 | c.1153A= (p.Lys385=) c.1561A= (p.Lys521=) n.2597A= c.1558A= (p.Lys520=) c.1603A= (p.Lys535=) n.1938A= c.1600A= (p.Lys534=) c.1525A= (p.Lys509=) c.1522A= (p.Lys508=) c.1510A= (p.Lys504=) | |
11 | g.22259714A>C | CA379922388 | ANO5 | c.1153A>C (p.Lys385Gln) c.1561A>C (p.Lys521Gln) n.2597A>C c.1558A>C (p.Lys520Gln) c.1603A>C (p.Lys535Gln) n.1938A>C c.1600A>C (p.Lys534Gln) c.1525A>C (p.Lys509Gln) c.1522A>C (p.Lys508Gln) c.1510A>C (p.Lys504Gln) | |
11 | g.22259714A>G | CA379922390 | ANO5 | c.1153A>G (p.Lys385Glu) c.1561A>G (p.Lys521Glu) n.2597A>G c.1558A>G (p.Lys520Glu) c.1603A>G (p.Lys535Glu) n.1938A>G c.1600A>G (p.Lys534Glu) c.1525A>G (p.Lys509Glu) c.1522A>G (p.Lys508Glu) c.1510A>G (p.Lys504Glu) | |
11 | g.22259714A>T | CA379922389 | ANO5 | c.1153A>T (p.Lys385Ter) c.1561A>T (p.Lys521Ter) n.2597A>T c.1558A>T (p.Lys520Ter) c.1603A>T (p.Lys535Ter) n.1938A>T c.1600A>T (p.Lys534Ter) c.1525A>T (p.Lys509Ter) c.1522A>T (p.Lys508Ter) c.1510A>T (p.Lys504Ter) | dbSNP gnomAD v2 |
11 | g.22259715A>C | CA379922391 | ANO5 | c.1154A>C (p.Lys385Thr) c.1562A>C (p.Lys521Thr) n.2598A>C c.1559A>C (p.Lys520Thr) c.1604A>C (p.Lys535Thr) n.1939A>C c.1601A>C (p.Lys534Thr) c.1526A>C (p.Lys509Thr) c.1523A>C (p.Lys508Thr) c.1511A>C (p.Lys504Thr) | |
11 | g.22259715A>G | CA379922392 | ANO5 | c.1154A>G (p.Lys385Arg) c.1562A>G (p.Lys521Arg) n.2598A>G c.1559A>G (p.Lys520Arg) c.1604A>G (p.Lys535Arg) n.1939A>G c.1601A>G (p.Lys534Arg) c.1526A>G (p.Lys509Arg) c.1523A>G (p.Lys508Arg) c.1511A>G (p.Lys504Arg) | |
11 | g.22259715A>T | CA379922393 | ANO5 | c.1154A>T (p.Lys385Met) c.1562A>T (p.Lys521Met) n.2598A>T c.1559A>T (p.Lys520Met) c.1604A>T (p.Lys535Met) n.1939A>T c.1601A>T (p.Lys534Met) c.1526A>T (p.Lys509Met) c.1523A>T (p.Lys508Met) c.1511A>T (p.Lys504Met) | |
11 | g.22259716G>A | CA473405121 | ANO5 | c.1155G>A (p.Lys385=) c.1563G>A (p.Lys521=) n.2599G>A c.1560G>A (p.Lys520=) c.1605G>A (p.Lys535=) n.1940G>A c.1602G>A (p.Lys534=) c.1527G>A (p.Lys509=) c.1524G>A (p.Lys508=) c.1512G>A (p.Lys504=) | gnomAD v4 |
11 | g.22259716G>C | CA379922394 | ANO5 | c.1155G>C (p.Lys385Asn) c.1563G>C (p.Lys521Asn) n.2599G>C c.1560G>C (p.Lys520Asn) c.1605G>C (p.Lys535Asn) n.1940G>C c.1602G>C (p.Lys534Asn) c.1527G>C (p.Lys509Asn) c.1524G>C (p.Lys508Asn) c.1512G>C (p.Lys504Asn) | |
11 | g.22259716G= | CA1957418788 | ANO5 | c.1155G= (p.Lys385=) c.1563G= (p.Lys521=) n.2599G= c.1560G= (p.Lys520=) c.1605G= (p.Lys535=) n.1940G= c.1602G= (p.Lys534=) c.1527G= (p.Lys509=) c.1524G= (p.Lys508=) c.1512G= (p.Lys504=) | |
11 | g.22259716G>T | CA379922395 | ANO5 | c.1155G>T (p.Lys385Asn) c.1563G>T (p.Lys521Asn) n.2599G>T c.1560G>T (p.Lys520Asn) c.1605G>T (p.Lys535Asn) n.1940G>T c.1602G>T (p.Lys534Asn) c.1527G>T (p.Lys509Asn) c.1524G>T (p.Lys508Asn) c.1512G>T (p.Lys504Asn) | dbSNP gnomAD v2 |
11 | g.22259717A= | CA1957418789 | ANO5 | c.1156A= (p.Ile386=) c.1564A= (p.Ile522=) n.2600A= c.1561A= (p.Ile521=) c.1606A= (p.Ile536=) n.1941A= c.1603A= (p.Ile535=) c.1528A= (p.Ile510=) c.1525A= (p.Ile509=) c.1513A= (p.Ile505=) | |
11 | g.22259717A>C | CA5923291 | ANO5 | c.1156A>C (p.Ile386Leu) c.1564A>C (p.Ile522Leu) n.2600A>C c.1561A>C (p.Ile521Leu) c.1606A>C (p.Ile536Leu) n.1941A>C c.1603A>C (p.Ile535Leu) c.1528A>C (p.Ile510Leu) c.1525A>C (p.Ile509Leu) c.1513A>C (p.Ile505Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259717A>G | CA379922396 | ANO5 | c.1156A>G (p.Ile386Val) c.1564A>G (p.Ile522Val) n.2600A>G c.1561A>G (p.Ile521Val) c.1606A>G (p.Ile536Val) n.1941A>G c.1603A>G (p.Ile535Val) c.1528A>G (p.Ile510Val) c.1525A>G (p.Ile509Val) c.1513A>G (p.Ile505Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259717A>T | CA379922397 | ANO5 | c.1156A>T (p.Ile386Leu) c.1564A>T (p.Ile522Leu) n.2600A>T c.1561A>T (p.Ile521Leu) c.1606A>T (p.Ile536Leu) n.1941A>T c.1603A>T (p.Ile535Leu) c.1528A>T (p.Ile510Leu) c.1525A>T (p.Ile509Leu) c.1513A>T (p.Ile505Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.22259718T>A | CA379922398 | ANO5 | c.1157T>A (p.Ile386Lys) c.1565T>A (p.Ile522Lys) n.2601T>A c.1562T>A (p.Ile521Lys) c.1607T>A (p.Ile536Lys) n.1942T>A c.1604T>A (p.Ile535Lys) c.1529T>A (p.Ile510Lys) c.1526T>A (p.Ile509Lys) c.1514T>A (p.Ile505Lys) | |
11 | g.22259718T>C | CA379922399 | ANO5 | c.1157T>C (p.Ile386Thr) c.1565T>C (p.Ile522Thr) n.2601T>C c.1562T>C (p.Ile521Thr) c.1607T>C (p.Ile536Thr) n.1942T>C c.1604T>C (p.Ile535Thr) c.1529T>C (p.Ile510Thr) c.1526T>C (p.Ile509Thr) c.1514T>C (p.Ile505Thr) | |
11 | g.22259718T>G | CA379922400 | ANO5 | c.1157T>G (p.Ile386Arg) c.1565T>G (p.Ile522Arg) n.2601T>G c.1562T>G (p.Ile521Arg) c.1607T>G (p.Ile536Arg) n.1942T>G c.1604T>G (p.Ile535Arg) c.1529T>G (p.Ile510Arg) c.1526T>G (p.Ile509Arg) c.1514T>G (p.Ile505Arg) | |
11 | g.22259719A>C | CA473405122 | ANO5 | c.1158A>C (p.Ile386=) c.1566A>C (p.Ile522=) n.2602A>C c.1563A>C (p.Ile521=) c.1608A>C (p.Ile536=) n.1943A>C c.1605A>C (p.Ile535=) c.1530A>C (p.Ile510=) c.1527A>C (p.Ile509=) c.1515A>C (p.Ile505=) | |
11 | g.22259719A>G | CA379922401 | ANO5 | c.1158A>G (p.Ile386Met) c.1566A>G (p.Ile522Met) n.2602A>G c.1563A>G (p.Ile521Met) c.1608A>G (p.Ile536Met) n.1943A>G c.1605A>G (p.Ile535Met) c.1530A>G (p.Ile510Met) c.1527A>G (p.Ile509Met) c.1515A>G (p.Ile505Met) | |
11 | g.22259719A>T | CA473405123 | ANO5 | c.1158A>T (p.Ile386=) c.1566A>T (p.Ile522=) n.2602A>T c.1563A>T (p.Ile521=) c.1608A>T (p.Ile536=) n.1943A>T c.1605A>T (p.Ile535=) c.1530A>T (p.Ile510=) c.1527A>T (p.Ile509=) c.1515A>T (p.Ile505=) | |
11 | g.22259720T>A | CA379922402 | ANO5 | c.1159T>A (p.Ser387Thr) c.1567T>A (p.Ser523Thr) n.2603T>A c.1564T>A (p.Ser522Thr) c.1609T>A (p.Ser537Thr) n.1944T>A c.1606T>A (p.Ser536Thr) c.1531T>A (p.Ser511Thr) c.1528T>A (p.Ser510Thr) c.1516T>A (p.Ser506Thr) | gnomAD v4 |
11 | g.22259720T>C | CA5923292 | ANO5 | c.1159T>C (p.Ser387Pro) c.1567T>C (p.Ser523Pro) n.2603T>C c.1564T>C (p.Ser522Pro) c.1609T>C (p.Ser537Pro) n.1944T>C c.1606T>C (p.Ser536Pro) c.1531T>C (p.Ser511Pro) c.1528T>C (p.Ser510Pro) c.1516T>C (p.Ser506Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259720T>G | CA379922403 | ANO5 | c.1159T>G (p.Ser387Ala) c.1567T>G (p.Ser523Ala) n.2603T>G c.1564T>G (p.Ser522Ala) c.1609T>G (p.Ser537Ala) n.1944T>G c.1606T>G (p.Ser536Ala) c.1531T>G (p.Ser511Ala) c.1528T>G (p.Ser510Ala) c.1516T>G (p.Ser506Ala) | |
11 | g.22259720T= | CA1957418790 | ANO5 | c.1159T= (p.Ser387=) c.1567T= (p.Ser523=) n.2603T= c.1564T= (p.Ser522=) c.1609T= (p.Ser537=) n.1944T= c.1606T= (p.Ser536=) c.1531T= (p.Ser511=) c.1528T= (p.Ser510=) c.1516T= (p.Ser506=) | |
11 | g.22259721_22259722del | CA2612837742 | ANO5 | c.1160_1161del (p.Ser387CysfsTer16) c.1568_1569del (p.Ser523CysfsTer16) n.2604_2605del c.1565_1566del (p.Ser522CysfsTer16) c.1610_1611del (p.Ser537CysfsTer16) n.1945_1946del c.1607_1608del (p.Ser536CysfsTer16) c.1532_1533del (p.Ser511CysfsTer16) c.1529_1530del (p.Ser510CysfsTer16) c.1517_1518del (p.Ser506CysfsTer16) | gnomAD v4 |
11 | g.22259721C>A | CA379922404 | ANO5 | c.1160C>A (p.Ser387Tyr) c.1568C>A (p.Ser523Tyr) n.2604C>A c.1565C>A (p.Ser522Tyr) c.1610C>A (p.Ser537Tyr) n.1945C>A c.1607C>A (p.Ser536Tyr) c.1532C>A (p.Ser511Tyr) c.1529C>A (p.Ser510Tyr) c.1517C>A (p.Ser506Tyr) | |
11 | g.22259721C= | CA1957418791 | ANO5 | c.1160C= (p.Ser387=) c.1568C= (p.Ser523=) n.2604C= c.1565C= (p.Ser522=) c.1610C= (p.Ser537=) n.1945C= c.1607C= (p.Ser536=) c.1532C= (p.Ser511=) c.1529C= (p.Ser510=) c.1517C= (p.Ser506=) | |
11 | g.22259721C>G | CA379922405 | ANO5 | c.1160C>G (p.Ser387Cys) c.1568C>G (p.Ser523Cys) n.2604C>G c.1565C>G (p.Ser522Cys) c.1610C>G (p.Ser537Cys) n.1945C>G c.1607C>G (p.Ser536Cys) c.1532C>G (p.Ser511Cys) c.1529C>G (p.Ser510Cys) c.1517C>G (p.Ser506Cys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259721C>T | CA379922406 | ANO5 | c.1160C>T (p.Ser387Phe) c.1568C>T (p.Ser523Phe) n.2604C>T c.1565C>T (p.Ser522Phe) c.1610C>T (p.Ser537Phe) n.1945C>T c.1607C>T (p.Ser536Phe) c.1532C>T (p.Ser511Phe) c.1529C>T (p.Ser510Phe) c.1517C>T (p.Ser506Phe) | |
11 | g.22259722T>A | CA473405124 | ANO5 | c.1161T>A (p.Ser387=) c.1569T>A (p.Ser523=) n.2605T>A c.1566T>A (p.Ser522=) c.1611T>A (p.Ser537=) n.1946T>A c.1608T>A (p.Ser536=) c.1533T>A (p.Ser511=) c.1530T>A (p.Ser510=) c.1518T>A (p.Ser506=) | |
11 | g.22259722T>C | CA473405125 | ANO5 | c.1161T>C (p.Ser387=) c.1569T>C (p.Ser523=) n.2605T>C c.1566T>C (p.Ser522=) c.1611T>C (p.Ser537=) n.1946T>C c.1608T>C (p.Ser536=) c.1533T>C (p.Ser511=) c.1530T>C (p.Ser510=) c.1518T>C (p.Ser506=) | |
11 | g.22259722T>G | CA473405126 | ANO5 | c.1161T>G (p.Ser387=) c.1569T>G (p.Ser523=) n.2605T>G c.1566T>G (p.Ser522=) c.1611T>G (p.Ser537=) n.1946T>G c.1608T>G (p.Ser536=) c.1533T>G (p.Ser511=) c.1530T>G (p.Ser510=) c.1518T>G (p.Ser506=) | |
11 | g.22259723G>A | CA379922407 | ANO5 | c.1162G>A (p.Ala388Thr) c.1570G>A (p.Ala524Thr) n.2606G>A c.1567G>A (p.Ala523Thr) c.1612G>A (p.Ala538Thr) n.1947G>A c.1609G>A (p.Ala537Thr) c.1534G>A (p.Ala512Thr) c.1531G>A (p.Ala511Thr) c.1519G>A (p.Ala507Thr) | |
11 | g.22259723G>C | CA379922408 | ANO5 | c.1162G>C (p.Ala388Pro) c.1570G>C (p.Ala524Pro) n.2606G>C c.1567G>C (p.Ala523Pro) c.1612G>C (p.Ala538Pro) n.1947G>C c.1609G>C (p.Ala537Pro) c.1534G>C (p.Ala512Pro) c.1531G>C (p.Ala511Pro) c.1519G>C (p.Ala507Pro) | |
11 | g.22259723G= | CA1957418792 | ANO5 | c.1162G= (p.Ala388=) c.1570G= (p.Ala524=) n.2606G= c.1567G= (p.Ala523=) c.1612G= (p.Ala538=) n.1947G= c.1609G= (p.Ala537=) c.1534G= (p.Ala512=) c.1531G= (p.Ala511=) c.1519G= (p.Ala507=) | |
11 | g.22259723G>T | CA379922409 | ANO5 | c.1162G>T (p.Ala388Ser) c.1570G>T (p.Ala524Ser) n.2606G>T c.1567G>T (p.Ala523Ser) c.1612G>T (p.Ala538Ser) n.1947G>T c.1609G>T (p.Ala537Ser) c.1534G>T (p.Ala512Ser) c.1531G>T (p.Ala511Ser) c.1519G>T (p.Ala507Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259723_22259724delinsTT | CA2740093655 | ANO5 | c.1162_1163delinsTT (p.Ala388Phe) c.1570_1571delinsTT (p.Ala524Phe) n.2606_2607delinsTT c.1567_1568delinsTT (p.Ala523Phe) c.1612_1613delinsTT (p.Ala538Phe) n.1947_1948delinsTT c.1609_1610delinsTT (p.Ala537Phe) c.1534_1535delinsTT (p.Ala512Phe) c.1531_1532delinsTT (p.Ala511Phe) c.1519_1520delinsTT (p.Ala507Phe) | ClinVar |
11 | g.22259724C>A | CA379922410 | ANO5 | c.1163C>A (p.Ala388Asp) c.1571C>A (p.Ala524Asp) n.2607C>A c.1568C>A (p.Ala523Asp) c.1613C>A (p.Ala538Asp) n.1948C>A c.1610C>A (p.Ala537Asp) c.1535C>A (p.Ala512Asp) c.1532C>A (p.Ala511Asp) c.1520C>A (p.Ala507Asp) | |
11 | g.22259724C= | CA1957418793 | ANO5 | c.1163C= (p.Ala388=) c.1571C= (p.Ala524=) n.2607C= c.1568C= (p.Ala523=) c.1613C= (p.Ala538=) n.1948C= c.1610C= (p.Ala537=) c.1535C= (p.Ala512=) c.1532C= (p.Ala511=) c.1520C= (p.Ala507=) | |
11 | g.22259724C>G | CA379922411 | ANO5 | c.1163C>G (p.Ala388Gly) c.1571C>G (p.Ala524Gly) n.2607C>G c.1568C>G (p.Ala523Gly) c.1613C>G (p.Ala538Gly) n.1948C>G c.1610C>G (p.Ala537Gly) c.1535C>G (p.Ala512Gly) c.1532C>G (p.Ala511Gly) c.1520C>G (p.Ala507Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.22259724C>T | CA379922412 | ANO5 | c.1163C>T (p.Ala388Val) c.1571C>T (p.Ala524Val) n.2607C>T c.1568C>T (p.Ala523Val) c.1613C>T (p.Ala538Val) n.1948C>T c.1610C>T (p.Ala537Val) c.1535C>T (p.Ala512Val) c.1532C>T (p.Ala511Val) c.1520C>T (p.Ala507Val) | |
11 | g.22259725C>A | CA473405127 | ANO5 | c.1164C>A (p.Ala388=) c.1572C>A (p.Ala524=) n.2608C>A c.1569C>A (p.Ala523=) c.1614C>A (p.Ala538=) n.1949C>A c.1611C>A (p.Ala537=) c.1536C>A (p.Ala512=) c.1533C>A (p.Ala511=) c.1521C>A (p.Ala507=) | |
11 | g.22259725C>G | CA473405128 | ANO5 | c.1164C>G (p.Ala388=) c.1572C>G (p.Ala524=) n.2608C>G c.1569C>G (p.Ala523=) c.1614C>G (p.Ala538=) n.1949C>G c.1611C>G (p.Ala537=) c.1536C>G (p.Ala512=) c.1533C>G (p.Ala511=) c.1521C>G (p.Ala507=) | |
11 | g.22259725C>T | CA473405129 | ANO5 | c.1164C>T (p.Ala388=) c.1572C>T (p.Ala524=) n.2608C>T c.1569C>T (p.Ala523=) c.1614C>T (p.Ala538=) n.1949C>T c.1611C>T (p.Ala537=) c.1536C>T (p.Ala512=) c.1533C>T (p.Ala511=) c.1521C>T (p.Ala507=) | gnomAD v4 |
11 | g.22259726T>A | CA379922414 | ANO5 | c.1165T>A (p.Trp389Arg) c.1573T>A (p.Trp525Arg) n.2609T>A c.1570T>A (p.Trp524Arg) c.1615T>A (p.Trp539Arg) n.1950T>A c.1612T>A (p.Trp538Arg) c.1537T>A (p.Trp513Arg) c.1534T>A (p.Trp512Arg) c.1522T>A (p.Trp508Arg) | |
11 | g.22259726T>C | CA379922415 | ANO5 | c.1165T>C (p.Trp389Arg) c.1573T>C (p.Trp525Arg) n.2609T>C c.1570T>C (p.Trp524Arg) c.1615T>C (p.Trp539Arg) n.1950T>C c.1612T>C (p.Trp538Arg) c.1537T>C (p.Trp513Arg) c.1534T>C (p.Trp512Arg) c.1522T>C (p.Trp508Arg) | |
11 | g.22259726T>G | CA379922413 | ANO5 | c.1165T>G (p.Trp389Gly) c.1573T>G (p.Trp525Gly) n.2609T>G c.1570T>G (p.Trp524Gly) c.1615T>G (p.Trp539Gly) n.1950T>G c.1612T>G (p.Trp538Gly) c.1537T>G (p.Trp513Gly) c.1534T>G (p.Trp512Gly) c.1522T>G (p.Trp508Gly) | dbSNP |
11 | g.22259726T= | CA1957418794 | ANO5 | c.1165T= (p.Trp389=) c.1573T= (p.Trp525=) n.2609T= c.1570T= (p.Trp524=) c.1615T= (p.Trp539=) n.1950T= c.1612T= (p.Trp538=) c.1537T= (p.Trp513=) c.1534T= (p.Trp512=) c.1522T= (p.Trp508=) | |
11 | g.22259727G>A | CA379922416 | ANO5 | c.1166G>A (p.Trp389Ter) c.1574G>A (p.Trp525Ter) n.2610G>A c.1571G>A (p.Trp524Ter) c.1616G>A (p.Trp539Ter) n.1951G>A c.1613G>A (p.Trp538Ter) c.1538G>A (p.Trp513Ter) c.1535G>A (p.Trp512Ter) c.1523G>A (p.Trp508Ter) | |
11 | g.22259727G>C | CA379922417 | ANO5 | c.1166G>C (p.Trp389Ser) c.1574G>C (p.Trp525Ser) n.2610G>C c.1571G>C (p.Trp524Ser) c.1616G>C (p.Trp539Ser) n.1951G>C c.1613G>C (p.Trp538Ser) c.1538G>C (p.Trp513Ser) c.1535G>C (p.Trp512Ser) c.1523G>C (p.Trp508Ser) | |
11 | g.22259727G>T | CA379922418 | ANO5 | c.1166G>T (p.Trp389Leu) c.1574G>T (p.Trp525Leu) n.2610G>T c.1571G>T (p.Trp524Leu) c.1616G>T (p.Trp539Leu) n.1951G>T c.1613G>T (p.Trp538Leu) c.1538G>T (p.Trp513Leu) c.1535G>T (p.Trp512Leu) c.1523G>T (p.Trp508Leu) | |
11 | g.22259728G>A | CA379922419 | ANO5 | c.1167G>A (p.Trp389Ter) c.1575G>A (p.Trp525Ter) n.2611G>A c.1572G>A (p.Trp524Ter) c.1617G>A (p.Trp539Ter) n.1952G>A c.1614G>A (p.Trp538Ter) c.1539G>A (p.Trp513Ter) c.1536G>A (p.Trp512Ter) c.1524G>A (p.Trp508Ter) | gnomAD v4 |
11 | g.22259728G>C | CA379922420 | ANO5 | c.1167G>C (p.Trp389Cys) c.1575G>C (p.Trp525Cys) n.2611G>C c.1572G>C (p.Trp524Cys) c.1617G>C (p.Trp539Cys) n.1952G>C c.1614G>C (p.Trp538Cys) c.1539G>C (p.Trp513Cys) c.1536G>C (p.Trp512Cys) c.1524G>C (p.Trp508Cys) | |
11 | g.22259728G>T | CA379922421 | ANO5 | c.1167G>T (p.Trp389Cys) c.1575G>T (p.Trp525Cys) n.2611G>T c.1572G>T (p.Trp524Cys) c.1617G>T (p.Trp539Cys) n.1952G>T c.1614G>T (p.Trp538Cys) c.1539G>T (p.Trp513Cys) c.1536G>T (p.Trp512Cys) c.1524G>T (p.Trp508Cys) | |
11 | g.22259729A>C | CA379922422 | ANO5 | c.1168A>C (p.Ile390Leu) c.1576A>C (p.Ile526Leu) n.2612A>C c.1573A>C (p.Ile525Leu) c.1618A>C (p.Ile540Leu) n.1953A>C c.1615A>C (p.Ile539Leu) c.1540A>C (p.Ile514Leu) c.1537A>C (p.Ile513Leu) c.1525A>C (p.Ile509Leu) | |
11 | g.22259729A>G | CA379922423 | ANO5 | c.1168A>G (p.Ile390Val) c.1576A>G (p.Ile526Val) n.2612A>G c.1573A>G (p.Ile525Val) c.1618A>G (p.Ile540Val) n.1953A>G c.1615A>G (p.Ile539Val) c.1540A>G (p.Ile514Val) c.1537A>G (p.Ile513Val) c.1525A>G (p.Ile509Val) | |
11 | g.22259729A>T | CA379922424 | ANO5 | c.1168A>T (p.Ile390Phe) c.1576A>T (p.Ile526Phe) n.2612A>T c.1573A>T (p.Ile525Phe) c.1618A>T (p.Ile540Phe) n.1953A>T c.1615A>T (p.Ile539Phe) c.1540A>T (p.Ile514Phe) c.1537A>T (p.Ile513Phe) c.1525A>T (p.Ile509Phe) | |
11 | g.22259730T>A | CA379922425 | ANO5 | c.1169T>A (p.Ile390Asn) c.1577T>A (p.Ile526Asn) n.2613T>A c.1574T>A (p.Ile525Asn) c.1619T>A (p.Ile540Asn) n.1954T>A c.1616T>A (p.Ile539Asn) c.1541T>A (p.Ile514Asn) c.1538T>A (p.Ile513Asn) c.1526T>A (p.Ile509Asn) | |
11 | g.22259730T>C | CA379922426 | ANO5 | c.1169T>C (p.Ile390Thr) c.1577T>C (p.Ile526Thr) n.2613T>C c.1574T>C (p.Ile525Thr) c.1619T>C (p.Ile540Thr) n.1954T>C c.1616T>C (p.Ile539Thr) c.1541T>C (p.Ile514Thr) c.1538T>C (p.Ile513Thr) c.1526T>C (p.Ile509Thr) | |
11 | g.22259730T>G | CA379922427 | ANO5 | c.1169T>G (p.Ile390Ser) c.1577T>G (p.Ile526Ser) n.2613T>G c.1574T>G (p.Ile525Ser) c.1619T>G (p.Ile540Ser) n.1954T>G c.1616T>G (p.Ile539Ser) c.1541T>G (p.Ile514Ser) c.1538T>G (p.Ile513Ser) c.1526T>G (p.Ile509Ser) | |
11 | g.22259731C>A | CA473405131 | ANO5 | c.1170C>A (p.Ile390=) c.1578C>A (p.Ile526=) n.2614C>A c.1575C>A (p.Ile525=) c.1620C>A (p.Ile540=) n.1955C>A c.1617C>A (p.Ile539=) c.1542C>A (p.Ile514=) c.1539C>A (p.Ile513=) c.1527C>A (p.Ile509=) | |
11 | g.22259731C>G | CA379922428 | ANO5 | c.1170C>G (p.Ile390Met) c.1578C>G (p.Ile526Met) n.2614C>G c.1575C>G (p.Ile525Met) c.1620C>G (p.Ile540Met) n.1955C>G c.1617C>G (p.Ile539Met) c.1542C>G (p.Ile514Met) c.1539C>G (p.Ile513Met) c.1527C>G (p.Ile509Met) | |
11 | g.22259731C>T | CA473405130 | ANO5 | c.1170C>T (p.Ile390=) c.1578C>T (p.Ile526=) n.2614C>T c.1575C>T (p.Ile525=) c.1620C>T (p.Ile540=) n.1955C>T c.1617C>T (p.Ile539=) c.1542C>T (p.Ile514=) c.1539C>T (p.Ile513=) c.1527C>T (p.Ile509=) | |
11 | g.22259732A= | CA1957418795 | ANO5 | c.1171A= (p.Thr391=) c.1579A= (p.Thr527=) n.2615A= c.1576A= (p.Thr526=) c.1621A= (p.Thr541=) n.1956A= c.1618A= (p.Thr540=) c.1543A= (p.Thr515=) c.1540A= (p.Thr514=) c.1528A= (p.Thr510=) | |
11 | g.22259732A>C | CA379922431 | ANO5 | c.1171A>C (p.Thr391Pro) c.1579A>C (p.Thr527Pro) n.2615A>C c.1576A>C (p.Thr526Pro) c.1621A>C (p.Thr541Pro) n.1956A>C c.1618A>C (p.Thr540Pro) c.1543A>C (p.Thr515Pro) c.1540A>C (p.Thr514Pro) c.1528A>C (p.Thr510Pro) | |
11 | g.22259732A>G | CA379922430 | ANO5 | c.1171A>G (p.Thr391Ala) c.1579A>G (p.Thr527Ala) n.2615A>G c.1576A>G (p.Thr526Ala) c.1621A>G (p.Thr541Ala) n.1956A>G c.1618A>G (p.Thr540Ala) c.1543A>G (p.Thr515Ala) c.1540A>G (p.Thr514Ala) c.1528A>G (p.Thr510Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259732A>T | CA379922429 | ANO5 | c.1171A>T (p.Thr391Ser) c.1579A>T (p.Thr527Ser) n.2615A>T c.1576A>T (p.Thr526Ser) c.1621A>T (p.Thr541Ser) n.1956A>T c.1618A>T (p.Thr540Ser) c.1543A>T (p.Thr515Ser) c.1540A>T (p.Thr514Ser) c.1528A>T (p.Thr510Ser) | |
11 | g.22259733C>A | CA379922432 | ANO5 | c.1172C>A (p.Thr391Lys) c.1580C>A (p.Thr527Lys) n.2616C>A c.1577C>A (p.Thr526Lys) c.1622C>A (p.Thr541Lys) n.1957C>A c.1619C>A (p.Thr540Lys) c.1544C>A (p.Thr515Lys) c.1541C>A (p.Thr514Lys) c.1529C>A (p.Thr510Lys) | |
11 | g.22259733C= | CA1957418796 | ANO5 | c.1172C= (p.Thr391=) c.1580C= (p.Thr527=) n.2616C= c.1577C= (p.Thr526=) c.1622C= (p.Thr541=) n.1957C= c.1619C= (p.Thr540=) c.1544C= (p.Thr515=) c.1541C= (p.Thr514=) c.1529C= (p.Thr510=) | |
11 | g.22259733C>G | CA379922433 | ANO5 | c.1172C>G (p.Thr391Arg) c.1580C>G (p.Thr527Arg) n.2616C>G c.1577C>G (p.Thr526Arg) c.1622C>G (p.Thr541Arg) n.1957C>G c.1619C>G (p.Thr540Arg) c.1544C>G (p.Thr515Arg) c.1541C>G (p.Thr514Arg) c.1529C>G (p.Thr510Arg) | |
11 | g.22259733C>T | CA379922434 | ANO5 | c.1172C>T (p.Thr391Ile) c.1580C>T (p.Thr527Ile) n.2616C>T c.1577C>T (p.Thr526Ile) c.1622C>T (p.Thr541Ile) n.1957C>T c.1619C>T (p.Thr540Ile) c.1544C>T (p.Thr515Ile) c.1541C>T (p.Thr514Ile) c.1529C>T (p.Thr510Ile) | |
11 | g.22259734A>C | CA473405132 | ANO5 | c.1173A>C (p.Thr391=) c.1581A>C (p.Thr527=) n.2617A>C c.1578A>C (p.Thr526=) c.1623A>C (p.Thr541=) n.1958A>C c.1620A>C (p.Thr540=) c.1545A>C (p.Thr515=) c.1542A>C (p.Thr514=) c.1530A>C (p.Thr510=) | gnomAD v4 |
11 | g.22259734A>G | CA473405133 | ANO5 | c.1173A>G (p.Thr391=) c.1581A>G (p.Thr527=) n.2617A>G c.1578A>G (p.Thr526=) c.1623A>G (p.Thr541=) n.1958A>G c.1620A>G (p.Thr540=) c.1545A>G (p.Thr515=) c.1542A>G (p.Thr514=) c.1530A>G (p.Thr510=) | COSMIC |
11 | g.22259734A>T | CA473405134 | ANO5 | c.1173A>T (p.Thr391=) c.1581A>T (p.Thr527=) n.2617A>T c.1578A>T (p.Thr526=) c.1623A>T (p.Thr541=) n.1958A>T c.1620A>T (p.Thr540=) c.1545A>T (p.Thr515=) c.1542A>T (p.Thr514=) c.1530A>T (p.Thr510=) | |
11 | g.22259738dup | CA5923293 | ANO5 | c.1177dup (p.Met393AsnfsTer11) c.1585dup (p.Met529AsnfsTer11) n.2621dup c.1582dup (p.Met528AsnfsTer11) c.1627dup (p.Met543AsnfsTer11) n.1962dup c.1624dup (p.Met542AsnfsTer11) c.1549dup (p.Met517AsnfsTer11) c.1546dup (p.Met516AsnfsTer11) c.1534dup (p.Met512AsnfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259735A>C | CA379922435 | ANO5 | c.1174A>C (p.Lys392Gln) c.1582A>C (p.Lys528Gln) n.2618A>C c.1579A>C (p.Lys527Gln) c.1624A>C (p.Lys542Gln) n.1959A>C c.1621A>C (p.Lys541Gln) c.1546A>C (p.Lys516Gln) c.1543A>C (p.Lys515Gln) c.1531A>C (p.Lys511Gln) | |
11 | g.22259735A>G | CA379922436 | ANO5 | c.1174A>G (p.Lys392Glu) c.1582A>G (p.Lys528Glu) n.2618A>G c.1579A>G (p.Lys527Glu) c.1624A>G (p.Lys542Glu) n.1959A>G c.1621A>G (p.Lys541Glu) c.1546A>G (p.Lys516Glu) c.1543A>G (p.Lys515Glu) c.1531A>G (p.Lys511Glu) | |
11 | g.22259735A>T | CA379922437 | ANO5 | c.1174A>T (p.Lys392Ter) c.1582A>T (p.Lys528Ter) n.2618A>T c.1579A>T (p.Lys527Ter) c.1624A>T (p.Lys542Ter) n.1959A>T c.1621A>T (p.Lys541Ter) c.1546A>T (p.Lys516Ter) c.1543A>T (p.Lys515Ter) c.1531A>T (p.Lys511Ter) | |
11 | g.22259736A>C | CA379922438 | ANO5 | c.1175A>C (p.Lys392Thr) c.1583A>C (p.Lys528Thr) n.2619A>C c.1580A>C (p.Lys527Thr) c.1625A>C (p.Lys542Thr) n.1960A>C c.1622A>C (p.Lys541Thr) c.1547A>C (p.Lys516Thr) c.1544A>C (p.Lys515Thr) c.1532A>C (p.Lys511Thr) | |
11 | g.22259736A>G | CA379922439 | ANO5 | c.1175A>G (p.Lys392Arg) c.1583A>G (p.Lys528Arg) n.2619A>G c.1580A>G (p.Lys527Arg) c.1625A>G (p.Lys542Arg) n.1960A>G c.1622A>G (p.Lys541Arg) c.1547A>G (p.Lys516Arg) c.1544A>G (p.Lys515Arg) c.1532A>G (p.Lys511Arg) | |
11 | g.22259736A>T | CA379922440 | ANO5 | c.1175A>T (p.Lys392Ile) c.1583A>T (p.Lys528Ile) n.2619A>T c.1580A>T (p.Lys527Ile) c.1625A>T (p.Lys542Ile) n.1960A>T c.1622A>T (p.Lys541Ile) c.1547A>T (p.Lys516Ile) c.1544A>T (p.Lys515Ile) c.1532A>T (p.Lys511Ile) | |
11 | g.22259737A>C | CA379922441 | ANO5 | c.1176A>C (p.Lys392Asn) c.1584A>C (p.Lys528Asn) n.2620A>C c.1581A>C (p.Lys527Asn) c.1626A>C (p.Lys542Asn) n.1961A>C c.1623A>C (p.Lys541Asn) c.1548A>C (p.Lys516Asn) c.1545A>C (p.Lys515Asn) c.1533A>C (p.Lys511Asn) | |
11 | g.22259737A>G | CA473405135 | ANO5 | c.1176A>G (p.Lys392=) c.1584A>G (p.Lys528=) n.2620A>G c.1581A>G (p.Lys527=) c.1626A>G (p.Lys542=) n.1961A>G c.1623A>G (p.Lys541=) c.1548A>G (p.Lys516=) c.1545A>G (p.Lys515=) c.1533A>G (p.Lys511=) | |
11 | g.22259737A>T | CA379922442 | ANO5 | c.1176A>T (p.Lys392Asn) c.1584A>T (p.Lys528Asn) n.2620A>T c.1581A>T (p.Lys527Asn) c.1626A>T (p.Lys542Asn) n.1961A>T c.1623A>T (p.Lys541Asn) c.1548A>T (p.Lys516Asn) c.1545A>T (p.Lys515Asn) c.1533A>T (p.Lys511Asn) | |
11 | g.22259738A>C | CA379922445 | ANO5 | c.1177A>C (p.Met393Leu) c.1585A>C (p.Met529Leu) n.2621A>C c.1582A>C (p.Met528Leu) c.1627A>C (p.Met543Leu) n.1962A>C c.1624A>C (p.Met542Leu) c.1549A>C (p.Met517Leu) c.1546A>C (p.Met516Leu) c.1534A>C (p.Met512Leu) | |
11 | g.22259738A>G | CA379922444 | ANO5 | c.1177A>G (p.Met393Val) c.1585A>G (p.Met529Val) n.2621A>G c.1582A>G (p.Met528Val) c.1627A>G (p.Met543Val) n.1962A>G c.1624A>G (p.Met542Val) c.1549A>G (p.Met517Val) c.1546A>G (p.Met516Val) c.1534A>G (p.Met512Val) | |
11 | g.22259738A>T | CA379922443 | ANO5 | c.1177A>T (p.Met393Leu) c.1585A>T (p.Met529Leu) n.2621A>T c.1582A>T (p.Met528Leu) c.1627A>T (p.Met543Leu) n.1962A>T c.1624A>T (p.Met542Leu) c.1549A>T (p.Met517Leu) c.1546A>T (p.Met516Leu) c.1534A>T (p.Met512Leu) | |
11 | g.22259739T>A | CA379922446 | ANO5 | c.1178T>A (p.Met393Lys) c.1586T>A (p.Met529Lys) n.2622T>A c.1583T>A (p.Met528Lys) c.1628T>A (p.Met543Lys) n.1963T>A c.1625T>A (p.Met542Lys) c.1550T>A (p.Met517Lys) c.1547T>A (p.Met516Lys) c.1535T>A (p.Met512Lys) | ClinVar dbSNP |
11 | g.22259739T>C | CA379922448 | ANO5 | c.1178T>C (p.Met393Thr) c.1586T>C (p.Met529Thr) n.2622T>C c.1583T>C (p.Met528Thr) c.1628T>C (p.Met543Thr) n.1963T>C c.1625T>C (p.Met542Thr) c.1550T>C (p.Met517Thr) c.1547T>C (p.Met516Thr) c.1535T>C (p.Met512Thr) | |
11 | g.22259739T>G | CA379922447 | ANO5 | c.1178T>G (p.Met393Arg) c.1586T>G (p.Met529Arg) n.2622T>G c.1583T>G (p.Met528Arg) c.1628T>G (p.Met543Arg) n.1963T>G c.1625T>G (p.Met542Arg) c.1550T>G (p.Met517Arg) c.1547T>G (p.Met516Arg) c.1535T>G (p.Met512Arg) | |
11 | g.22259740G>A | CA379922449 | ANO5 | c.1179G>A (p.Met393Ile) c.1587G>A (p.Met529Ile) n.2623G>A c.1584G>A (p.Met528Ile) c.1629G>A (p.Met543Ile) n.1964G>A c.1626G>A (p.Met542Ile) c.1551G>A (p.Met517Ile) c.1548G>A (p.Met516Ile) c.1536G>A (p.Met512Ile) | gnomAD v4 |
11 | g.22259740G>C | CA379922450 | ANO5 | c.1179G>C (p.Met393Ile) c.1587G>C (p.Met529Ile) n.2623G>C c.1584G>C (p.Met528Ile) c.1629G>C (p.Met543Ile) n.1964G>C c.1626G>C (p.Met542Ile) c.1551G>C (p.Met517Ile) c.1548G>C (p.Met516Ile) c.1536G>C (p.Met512Ile) | |
11 | g.22259740G= | CA1957418797 | ANO5 | c.1179G= (p.Met393=) c.1587G= (p.Met529=) n.2623G= c.1584G= (p.Met528=) c.1629G= (p.Met543=) n.1964G= c.1626G= (p.Met542=) c.1551G= (p.Met517=) c.1548G= (p.Met516=) c.1536G= (p.Met512=) | |
11 | g.22259740G>T | CA379922451 | ANO5 | c.1179G>T (p.Met393Ile) c.1587G>T (p.Met529Ile) n.2623G>T c.1584G>T (p.Met528Ile) c.1629G>T (p.Met543Ile) n.1964G>T c.1626G>T (p.Met542Ile) c.1551G>T (p.Met517Ile) c.1548G>T (p.Met516Ile) c.1536G>T (p.Met512Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.22259741G>A | CA379922452 | ANO5 | c.1180G>A (p.Glu394Lys) c.1588G>A (p.Glu530Lys) n.2624G>A c.1585G>A (p.Glu529Lys) c.1630G>A (p.Glu544Lys) n.1965G>A c.1627G>A (p.Glu543Lys) c.1552G>A (p.Glu518Lys) c.1549G>A (p.Glu517Lys) c.1537G>A (p.Glu513Lys) | |
11 | g.22259741G>C | CA379922453 | ANO5 | c.1180G>C (p.Glu394Gln) c.1588G>C (p.Glu530Gln) n.2624G>C c.1585G>C (p.Glu529Gln) c.1630G>C (p.Glu544Gln) n.1965G>C c.1627G>C (p.Glu543Gln) c.1552G>C (p.Glu518Gln) c.1549G>C (p.Glu517Gln) c.1537G>C (p.Glu513Gln) | |
11 | g.22259741G>T | CA379922454 | ANO5 | c.1180G>T (p.Glu394Ter) c.1588G>T (p.Glu530Ter) n.2624G>T c.1585G>T (p.Glu529Ter) c.1630G>T (p.Glu544Ter) n.1965G>T c.1627G>T (p.Glu543Ter) c.1552G>T (p.Glu518Ter) c.1549G>T (p.Glu517Ter) c.1537G>T (p.Glu513Ter) | |
11 | g.22259742G>A | CA379922455 | ANO5 | c.1180+1G>A (n.1180+1G>A) c.1588+1G>A (n.1588+1G>A) n.2624+1G>A c.1585+1G>A (n.1585+1G>A) c.1630+1G>A (n.1630+1G>A) n.1965+1G>A c.1627+1G>A (n.1627+1G>A) c.1552+1G>A (n.1552+1G>A) c.1549+1G>A (n.1549+1G>A) c.1537+1G>A (n.1537+1G>A) | |
11 | g.22259742G>C | CA379922456 | ANO5 | c.1180+1G>C (n.1180+1G>C) c.1588+1G>C (n.1588+1G>C) n.2624+1G>C c.1585+1G>C (n.1585+1G>C) c.1630+1G>C (n.1630+1G>C) n.1965+1G>C c.1627+1G>C (n.1627+1G>C) c.1552+1G>C (n.1552+1G>C) c.1549+1G>C (n.1549+1G>C) c.1537+1G>C (n.1537+1G>C) | |
11 | g.22259742G>T | CA379922457 | ANO5 | c.1180+1G>T (n.1180+1G>T) c.1588+1G>T (n.1588+1G>T) n.2624+1G>T c.1585+1G>T (n.1585+1G>T) c.1630+1G>T (n.1630+1G>T) n.1965+1G>T c.1627+1G>T (n.1627+1G>T) c.1552+1G>T (n.1552+1G>T) c.1549+1G>T (n.1549+1G>T) c.1537+1G>T (n.1537+1G>T) | COSMIC |
11 | g.22259743T>A | CA379922458 | ANO5 | c.1180+2T>A (n.1180+2T>A) c.1588+2T>A (n.1588+2T>A) n.2624+2T>A c.1585+2T>A (n.1585+2T>A) c.1630+2T>A (n.1630+2T>A) n.1965+2T>A c.1627+2T>A (n.1627+2T>A) c.1552+2T>A (n.1552+2T>A) c.1549+2T>A (n.1549+2T>A) c.1537+2T>A (n.1537+2T>A) | |
11 | g.22259743T>C | CA379922459 | ANO5 | c.1180+2T>C (n.1180+2T>C) c.1588+2T>C (n.1588+2T>C) n.2624+2T>C c.1585+2T>C (n.1585+2T>C) c.1630+2T>C (n.1630+2T>C) n.1965+2T>C c.1627+2T>C (n.1627+2T>C) c.1552+2T>C (n.1552+2T>C) c.1549+2T>C (n.1549+2T>C) c.1537+2T>C (n.1537+2T>C) | |
11 | g.22259743T>G | CA379922460 | ANO5 | c.1180+2T>G (n.1180+2T>G) c.1588+2T>G (n.1588+2T>G) n.2624+2T>G c.1585+2T>G (n.1585+2T>G) c.1630+2T>G (n.1630+2T>G) n.1965+2T>G c.1627+2T>G (n.1627+2T>G) c.1552+2T>G (n.1552+2T>G) c.1549+2T>G (n.1549+2T>G) c.1537+2T>G (n.1537+2T>G) | ClinVar dbSNP gnomAD v4 |
11 | g.22259743T= | CA1957418798 | ANO5 | c.1180+2T= (n.1180+2T=) c.1588+2T= (n.1588+2T=) n.2624+2T= c.1585+2T= (n.1585+2T=) c.1630+2T= (n.1630+2T=) n.1965+2T= c.1627+2T= (n.1627+2T=) c.1552+2T= (n.1552+2T=) c.1549+2T= (n.1549+2T=) c.1537+2T= (n.1537+2T=) | |
11 | g.22259744A>T | CA2612837764 | ANO5 | c.1180+3A>T (n.1180+3A>T) c.1588+3A>T (n.1588+3A>T) n.2624+3A>T c.1585+3A>T (n.1585+3A>T) c.1630+3A>T (n.1630+3A>T) n.1965+3A>T c.1627+3A>T (n.1627+3A>T) c.1552+3A>T (n.1552+3A>T) c.1549+3A>T (n.1549+3A>T) c.1537+3A>T (n.1537+3A>T) | gnomAD v4 |
11 | g.22259745_22259746delinsAG | CA1957418799 | ANO5 | c.1180+4_1180+5delinsAG (n.1180+4_1180+5delinsAG) c.1588+4_1588+5delinsAG (n.1588+4_1588+5delinsAG) n.2624+4_2624+5delinsAG c.1585+4_1585+5delinsAG (n.1585+4_1585+5delinsAG) c.1630+4_1630+5delinsAG (n.1630+4_1630+5delinsAG) n.1965+4_1965+5delinsAG c.1627+4_1627+5delinsAG (n.1627+4_1627+5delinsAG) c.1552+4_1552+5delinsAG (n.1552+4_1552+5delinsAG) c.1549+4_1549+5delinsAG (n.1549+4_1549+5delinsAG) c.1537+4_1537+5delinsAG (n.1537+4_1537+5delinsAG) | |
11 | g.22259746del | CA16619302 | ANO5 | c.1180+5del (n.1180+5del) c.1588+5del (n.1588+5del) n.2624+5del c.1585+5del (n.1585+5del) c.1630+5del (n.1630+5del) n.1965+5del c.1627+5del (n.1627+5del) c.1552+5del (n.1552+5del) c.1549+5del (n.1549+5del) c.1537+5del (n.1537+5del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259746G>A | CA2612837770 | ANO5 | c.1180+5G>A (n.1180+5G>A) c.1588+5G>A (n.1588+5G>A) n.2624+5G>A c.1585+5G>A (n.1585+5G>A) c.1630+5G>A (n.1630+5G>A) n.1965+5G>A c.1627+5G>A (n.1627+5G>A) c.1552+5G>A (n.1552+5G>A) c.1549+5G>A (n.1549+5G>A) c.1537+5G>A (n.1537+5G>A) | gnomAD v4 |
11 | g.22259746G>T | CA2612837771 | ANO5 | c.1180+5G>T (n.1180+5G>T) c.1588+5G>T (n.1588+5G>T) n.2624+5G>T c.1585+5G>T (n.1585+5G>T) c.1630+5G>T (n.1630+5G>T) n.1965+5G>T c.1627+5G>T (n.1627+5G>T) c.1552+5G>T (n.1552+5G>T) c.1549+5G>T (n.1549+5G>T) c.1537+5G>T (n.1537+5G>T) | gnomAD v4 |
11 | g.22259748_22259751del | CA2612837769 | ANO5 | c.1180+7_1180+10del (n.1180+7_1180+10del) c.1588+7_1588+10del (n.1588+7_1588+10del) n.2624+7_2624+10del c.1585+7_1585+10del (n.1585+7_1585+10del) c.1630+7_1630+10del (n.1630+7_1630+10del) n.1965+7_1965+10del c.1627+7_1627+10del (n.1627+7_1627+10del) c.1552+7_1552+10del (n.1552+7_1552+10del) c.1549+7_1549+10del (n.1549+7_1549+10del) c.1537+7_1537+10del (n.1537+7_1537+10del) | ClinVar gnomAD v4 |
11 | g.22259750G>A | CA598389451 | ANO5 | c.1180+9G>A (n.1180+9G>A) c.1588+9G>A (n.1588+9G>A) n.2624+9G>A c.1585+9G>A (n.1585+9G>A) c.1630+9G>A (n.1630+9G>A) n.1965+9G>A c.1627+9G>A (n.1627+9G>A) c.1552+9G>A (n.1552+9G>A) c.1549+9G>A (n.1549+9G>A) c.1537+9G>A (n.1537+9G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259750G= | CA1957418800 | ANO5 | c.1180+9G= (n.1180+9G=) c.1588+9G= (n.1588+9G=) n.2624+9G= c.1585+9G= (n.1585+9G=) c.1630+9G= (n.1630+9G=) n.1965+9G= c.1627+9G= (n.1627+9G=) c.1552+9G= (n.1552+9G=) c.1549+9G= (n.1549+9G=) c.1537+9G= (n.1537+9G=) | |
11 | g.22259750G>T | CA2612837775 | ANO5 | c.1180+9G>T (n.1180+9G>T) c.1588+9G>T (n.1588+9G>T) n.2624+9G>T c.1585+9G>T (n.1585+9G>T) c.1630+9G>T (n.1630+9G>T) n.1965+9G>T c.1627+9G>T (n.1627+9G>T) c.1552+9G>T (n.1552+9G>T) c.1549+9G>T (n.1549+9G>T) c.1537+9G>T (n.1537+9G>T) | gnomAD v4 |
11 | g.22259751C>A | CA2574781571 | ANO5 | c.1180+10C>A (n.1180+10C>A) c.1588+10C>A (n.1588+10C>A) n.2624+10C>A c.1585+10C>A (n.1585+10C>A) c.1630+10C>A (n.1630+10C>A) n.1965+10C>A c.1627+10C>A (n.1627+10C>A) c.1552+10C>A (n.1552+10C>A) c.1549+10C>A (n.1549+10C>A) c.1537+10C>A (n.1537+10C>A) | ClinVar gnomAD v4 |
11 | g.22259753A= | CA1957418801 | ANO5 | c.1180+12A= (n.1180+12A=) c.1588+12A= (n.1588+12A=) n.2624+12A= c.1585+12A= (n.1585+12A=) c.1630+12A= (n.1630+12A=) n.1965+12A= c.1627+12A= (n.1627+12A=) c.1552+12A= (n.1552+12A=) c.1549+12A= (n.1549+12A=) c.1537+12A= (n.1537+12A=) | |
11 | g.22259753A>G | CA218765824 | ANO5 | c.1180+12A>G (n.1180+12A>G) c.1588+12A>G (n.1588+12A>G) n.2624+12A>G c.1585+12A>G (n.1585+12A>G) c.1630+12A>G (n.1630+12A>G) n.1965+12A>G c.1627+12A>G (n.1627+12A>G) c.1552+12A>G (n.1552+12A>G) c.1549+12A>G (n.1549+12A>G) c.1537+12A>G (n.1537+12A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |