Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22259652C>ACA379922258ANO5c.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)
11g.22259652C=CA1957418760ANO5c.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=)
11g.22259652C>GCA379922257ANO5c.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
11g.22259652C>TCA144627ANO5c.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
11g.22259653A>CCA473405085ANO5c.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=)
11g.22259653A>GCA473405086ANO5c.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
11g.22259653A>TCA473405087ANO5c.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
11g.22259654T>ACA379922259ANO5c.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)
11g.22259654T>CCA379922260ANO5c.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)
11g.22259654T>GCA379922261ANO5c.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)
11g.22259655C>ACA379922262ANO5c.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
11g.22259655C=CA1957418761ANO5c.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=)
11g.22259655C>GCA379922263ANO5c.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)
11g.22259655C>TCA379922264ANO5c.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)
11g.22259656A=CA1957418762ANO5c.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=)
11g.22259656A>CCA473405089ANO5c.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=)
11g.22259656A>GCA179748ANO5c.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
11g.22259656A>TCA473405088ANO5c.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
11g.22259657C>ACA379922265ANO5c.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)
11g.22259657C>GCA379922266ANO5c.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
11g.22259657C>TCA379922267ANO5c.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
11g.22259658T>ACA379922268ANO5c.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)
11g.22259658T>CCA379922269ANO5c.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)
11g.22259658T>GCA379922270ANO5c.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)
11g.22259659C>ACA473405090ANO5c.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=)
11g.22259659C=CA1957418763ANO5c.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=)
11g.22259659C>GCA473405091ANO5c.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=)
11g.22259659C>TCA10604491ANO5c.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
11g.22259660A=CA1957418764ANO5c.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=)
11g.22259660A>CCA379922271ANO5c.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)
11g.22259660A>GCA5923276ANO5c.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
11g.22259660A>TCA379922272ANO5c.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)
11g.22259661C>ACA379922273ANO5c.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)
gnomAD v4
11g.22259661C=CA1957418765ANO5c.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=)
11g.22259661C>GCA379922274ANO5c.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)
11g.22259661C>TCA5923277ANO5c.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
11g.22259662A=CA1957418766ANO5c.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=)
11g.22259662A>CCA5923278ANO5c.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
11g.22259662A>GCA5923279ANO5c.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
11g.22259662A>TCA473405092ANO5c.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=)
11g.22259663G>ACA379922277ANO5c.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)
11g.22259663G>CCA379922276ANO5c.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)
11g.22259663G>TCA379922275ANO5c.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)
11g.22259664G>ACA379922278ANO5c.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)
COSMIC
11g.22259664G>CCA5923280ANO5c.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
11g.22259664G=CA1957418767ANO5c.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=)
11g.22259664G>TCA379922279ANO5c.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)
11g.22259665A>CCA473405093ANO5c.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=)
11g.22259665A>GCA473405094ANO5c.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=)
11g.22259665A>TCA473405095ANO5c.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=)

Number of alleles fetched