Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22259636A=CA1957418754ANO5c.1075A= (p.Thr359=)
c.1483A= (p.Thr495=)
n.2519A=
c.1480A= (p.Thr494=)
c.1525A= (p.Thr509=)
n.1860A=
c.1522A= (p.Thr508=)
c.1447A= (p.Thr483=)
c.1444A= (p.Thr482=)
c.1432A= (p.Thr478=)
11g.22259636A>CCA379922222ANO5c.1075A>C (p.Thr359Pro)
c.1483A>C (p.Thr495Pro)
n.2519A>C
c.1480A>C (p.Thr494Pro)
c.1525A>C (p.Thr509Pro)
n.1860A>C
c.1522A>C (p.Thr508Pro)
c.1447A>C (p.Thr483Pro)
c.1444A>C (p.Thr482Pro)
c.1432A>C (p.Thr478Pro)
11g.22259636A>GCA379922223ANO5c.1075A>G (p.Thr359Ala)
c.1483A>G (p.Thr495Ala)
n.2519A>G
c.1480A>G (p.Thr494Ala)
c.1525A>G (p.Thr509Ala)
n.1860A>G
c.1522A>G (p.Thr508Ala)
c.1447A>G (p.Thr483Ala)
c.1444A>G (p.Thr482Ala)
c.1432A>G (p.Thr478Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.22259636A>TCA379922224ANO5c.1075A>T (p.Thr359Ser)
c.1483A>T (p.Thr495Ser)
n.2519A>T
c.1480A>T (p.Thr494Ser)
c.1525A>T (p.Thr509Ser)
n.1860A>T
c.1522A>T (p.Thr508Ser)
c.1447A>T (p.Thr483Ser)
c.1444A>T (p.Thr482Ser)
c.1432A>T (p.Thr478Ser)
11g.22259637C>ACA379922225ANO5c.1076C>A (p.Thr359Asn)
c.1484C>A (p.Thr495Asn)
n.2520C>A
c.1481C>A (p.Thr494Asn)
c.1526C>A (p.Thr509Asn)
n.1861C>A
c.1523C>A (p.Thr508Asn)
c.1448C>A (p.Thr483Asn)
c.1445C>A (p.Thr482Asn)
c.1433C>A (p.Thr478Asn)
11g.22259637C>GCA379922226ANO5c.1076C>G (p.Thr359Ser)
c.1484C>G (p.Thr495Ser)
n.2520C>G
c.1481C>G (p.Thr494Ser)
c.1526C>G (p.Thr509Ser)
n.1861C>G
c.1523C>G (p.Thr508Ser)
c.1448C>G (p.Thr483Ser)
c.1445C>G (p.Thr482Ser)
c.1433C>G (p.Thr478Ser)
11g.22259637C>TCA379922227ANO5c.1076C>T (p.Thr359Ile)
c.1484C>T (p.Thr495Ile)
n.2520C>T
c.1481C>T (p.Thr494Ile)
c.1526C>T (p.Thr509Ile)
n.1861C>T
c.1523C>T (p.Thr508Ile)
c.1448C>T (p.Thr483Ile)
c.1445C>T (p.Thr482Ile)
c.1433C>T (p.Thr478Ile)
11g.22259638T>ACA473405073ANO5c.1077T>A (p.Thr359=)
c.1485T>A (p.Thr495=)
n.2521T>A
c.1482T>A (p.Thr494=)
c.1527T>A (p.Thr509=)
n.1862T>A
c.1524T>A (p.Thr508=)
c.1449T>A (p.Thr483=)
c.1446T>A (p.Thr482=)
c.1434T>A (p.Thr478=)
11g.22259638T>CCA473405074ANO5c.1077T>C (p.Thr359=)
c.1485T>C (p.Thr495=)
n.2521T>C
c.1482T>C (p.Thr494=)
c.1527T>C (p.Thr509=)
n.1862T>C
c.1524T>C (p.Thr508=)
c.1449T>C (p.Thr483=)
c.1446T>C (p.Thr482=)
c.1434T>C (p.Thr478=)
11g.22259638T>GCA473405075ANO5c.1077T>G (p.Thr359=)
c.1485T>G (p.Thr495=)
n.2521T>G
c.1482T>G (p.Thr494=)
c.1527T>G (p.Thr509=)
n.1862T>G
c.1524T>G (p.Thr508=)
c.1449T>G (p.Thr483=)
c.1446T>G (p.Thr482=)
c.1434T>G (p.Thr478=)
11g.22259639C>ACA379922230ANO5c.1078C>A (p.Pro360Thr)
c.1486C>A (p.Pro496Thr)
n.2522C>A
c.1483C>A (p.Pro495Thr)
c.1528C>A (p.Pro510Thr)
n.1863C>A
c.1525C>A (p.Pro509Thr)
c.1450C>A (p.Pro484Thr)
c.1447C>A (p.Pro483Thr)
c.1435C>A (p.Pro479Thr)
11g.22259639C>GCA379922228ANO5c.1078C>G (p.Pro360Ala)
c.1486C>G (p.Pro496Ala)
n.2522C>G
c.1483C>G (p.Pro495Ala)
c.1528C>G (p.Pro510Ala)
n.1863C>G
c.1525C>G (p.Pro509Ala)
c.1450C>G (p.Pro484Ala)
c.1447C>G (p.Pro483Ala)
c.1435C>G (p.Pro479Ala)
 ClinVar gnomAD v4
11g.22259639C>TCA379922229ANO5c.1078C>T (p.Pro360Ser)
c.1486C>T (p.Pro496Ser)
n.2522C>T
c.1483C>T (p.Pro495Ser)
c.1528C>T (p.Pro510Ser)
n.1863C>T
c.1525C>T (p.Pro509Ser)
c.1450C>T (p.Pro484Ser)
c.1447C>T (p.Pro483Ser)
c.1435C>T (p.Pro479Ser)
11g.22259640C>ACA379922231ANO5c.1079C>A (p.Pro360His)
c.1487C>A (p.Pro496His)
n.2523C>A
c.1484C>A (p.Pro495His)
c.1529C>A (p.Pro510His)
n.1864C>A
c.1526C>A (p.Pro509His)
c.1451C>A (p.Pro484His)
c.1448C>A (p.Pro483His)
c.1436C>A (p.Pro479His)
11g.22259640C>GCA379922232ANO5c.1079C>G (p.Pro360Arg)
c.1487C>G (p.Pro496Arg)
n.2523C>G
c.1484C>G (p.Pro495Arg)
c.1529C>G (p.Pro510Arg)
n.1864C>G
c.1526C>G (p.Pro509Arg)
c.1451C>G (p.Pro484Arg)
c.1448C>G (p.Pro483Arg)
c.1436C>G (p.Pro479Arg)
11g.22259640C>TCA379922233ANO5c.1079C>T (p.Pro360Leu)
c.1487C>T (p.Pro496Leu)
n.2523C>T
c.1484C>T (p.Pro495Leu)
c.1529C>T (p.Pro510Leu)
n.1864C>T
c.1526C>T (p.Pro509Leu)
c.1451C>T (p.Pro484Leu)
c.1448C>T (p.Pro483Leu)
c.1436C>T (p.Pro479Leu)
11g.22259641T>ACA473405078ANO5c.1080T>A (p.Pro360=)
c.1488T>A (p.Pro496=)
n.2524T>A
c.1485T>A (p.Pro495=)
c.1530T>A (p.Pro510=)
n.1865T>A
c.1527T>A (p.Pro509=)
c.1452T>A (p.Pro484=)
c.1449T>A (p.Pro483=)
c.1437T>A (p.Pro479=)
11g.22259641T>CCA473405077ANO5c.1080T>C (p.Pro360=)
c.1488T>C (p.Pro496=)
n.2524T>C
c.1485T>C (p.Pro495=)
c.1530T>C (p.Pro510=)
n.1865T>C
c.1527T>C (p.Pro509=)
c.1452T>C (p.Pro484=)
c.1449T>C (p.Pro483=)
c.1437T>C (p.Pro479=)
11g.22259641T>GCA473405076ANO5c.1080T>G (p.Pro360=)
c.1488T>G (p.Pro496=)
n.2524T>G
c.1485T>G (p.Pro495=)
c.1530T>G (p.Pro510=)
n.1865T>G
c.1527T>G (p.Pro509=)
c.1452T>G (p.Pro484=)
c.1449T>G (p.Pro483=)
c.1437T>G (p.Pro479=)
11g.22259642C>ACA379922234ANO5c.1081C>A (p.Gln361Lys)
c.1489C>A (p.Gln497Lys)
n.2525C>A
c.1486C>A (p.Gln496Lys)
c.1531C>A (p.Gln511Lys)
n.1866C>A
c.1528C>A (p.Gln510Lys)
c.1453C>A (p.Gln485Lys)
c.1450C>A (p.Gln484Lys)
c.1438C>A (p.Gln480Lys)
11g.22259642C=CA1957418755ANO5c.1081C= (p.Gln361=)
c.1489C= (p.Gln497=)
n.2525C=
c.1486C= (p.Gln496=)
c.1531C= (p.Gln511=)
n.1866C=
c.1528C= (p.Gln510=)
c.1453C= (p.Gln485=)
c.1450C= (p.Gln484=)
c.1438C= (p.Gln480=)
11g.22259642C>GCA379922235ANO5c.1081C>G (p.Gln361Glu)
c.1489C>G (p.Gln497Glu)
n.2525C>G
c.1486C>G (p.Gln496Glu)
c.1531C>G (p.Gln511Glu)
n.1866C>G
c.1528C>G (p.Gln510Glu)
c.1453C>G (p.Gln485Glu)
c.1450C>G (p.Gln484Glu)
c.1438C>G (p.Gln480Glu)
11g.22259642C>TCA379922236ANO5c.1081C>T (p.Gln361Ter)
c.1489C>T (p.Gln497Ter)
n.2525C>T
c.1486C>T (p.Gln496Ter)
c.1531C>T (p.Gln511Ter)
n.1866C>T
c.1528C>T (p.Gln510Ter)
c.1453C>T (p.Gln485Ter)
c.1450C>T (p.Gln484Ter)
c.1438C>T (p.Gln480Ter)
 ClinVar dbSNP
11g.22259643A>CCA379922237ANO5c.1082A>C (p.Gln361Pro)
c.1490A>C (p.Gln497Pro)
n.2526A>C
c.1487A>C (p.Gln496Pro)
c.1532A>C (p.Gln511Pro)
n.1867A>C
c.1529A>C (p.Gln510Pro)
c.1454A>C (p.Gln485Pro)
c.1451A>C (p.Gln484Pro)
c.1439A>C (p.Gln480Pro)
11g.22259643A>GCA379922238ANO5c.1082A>G (p.Gln361Arg)
c.1490A>G (p.Gln497Arg)
n.2526A>G
c.1487A>G (p.Gln496Arg)
c.1532A>G (p.Gln511Arg)
n.1867A>G
c.1529A>G (p.Gln510Arg)
c.1454A>G (p.Gln485Arg)
c.1451A>G (p.Gln484Arg)
c.1439A>G (p.Gln480Arg)
11g.22259643A>TCA379922239ANO5c.1082A>T (p.Gln361Leu)
c.1490A>T (p.Gln497Leu)
n.2526A>T
c.1487A>T (p.Gln496Leu)
c.1532A>T (p.Gln511Leu)
n.1867A>T
c.1529A>T (p.Gln510Leu)
c.1454A>T (p.Gln485Leu)
c.1451A>T (p.Gln484Leu)
c.1439A>T (p.Gln480Leu)
11g.22259644G>ACA473405079ANO5c.1083G>A (p.Gln361=)
c.1491G>A (p.Gln497=)
n.2527G>A
c.1488G>A (p.Gln496=)
c.1533G>A (p.Gln511=)
n.1868G>A
c.1530G>A (p.Gln510=)
c.1455G>A (p.Gln485=)
c.1452G>A (p.Gln484=)
c.1440G>A (p.Gln480=)
 COSMIC
11g.22259644G>CCA379922240ANO5c.1083G>C (p.Gln361His)
c.1491G>C (p.Gln497His)
n.2527G>C
c.1488G>C (p.Gln496His)
c.1533G>C (p.Gln511His)
n.1868G>C
c.1530G>C (p.Gln510His)
c.1455G>C (p.Gln485His)
c.1452G>C (p.Gln484His)
c.1440G>C (p.Gln480His)
11g.22259644G>TCA379922241ANO5c.1083G>T (p.Gln361His)
c.1491G>T (p.Gln497His)
n.2527G>T
c.1488G>T (p.Gln496His)
c.1533G>T (p.Gln511His)
n.1868G>T
c.1530G>T (p.Gln510His)
c.1455G>T (p.Gln485His)
c.1452G>T (p.Gln484His)
c.1440G>T (p.Gln480His)
11g.22259645A=CA1957418756ANO5c.1084A= (p.Ile362=)
c.1492A= (p.Ile498=)
n.2528A=
c.1489A= (p.Ile497=)
c.1534A= (p.Ile512=)
n.1869A=
c.1531A= (p.Ile511=)
c.1456A= (p.Ile486=)
c.1453A= (p.Ile485=)
c.1441A= (p.Ile481=)
11g.22259645A>CCA379922244ANO5c.1084A>C (p.Ile362Leu)
c.1492A>C (p.Ile498Leu)
n.2528A>C
c.1489A>C (p.Ile497Leu)
c.1534A>C (p.Ile512Leu)
n.1869A>C
c.1531A>C (p.Ile511Leu)
c.1456A>C (p.Ile486Leu)
c.1453A>C (p.Ile485Leu)
c.1441A>C (p.Ile481Leu)
11g.22259645A>GCA379922243ANO5c.1084A>G (p.Ile362Val)
c.1492A>G (p.Ile498Val)
n.2528A>G
c.1489A>G (p.Ile497Val)
c.1534A>G (p.Ile512Val)
n.1869A>G
c.1531A>G (p.Ile511Val)
c.1456A>G (p.Ile486Val)
c.1453A>G (p.Ile485Val)
c.1441A>G (p.Ile481Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.22259645A>TCA379922242ANO5c.1084A>T (p.Ile362Leu)
c.1492A>T (p.Ile498Leu)
n.2528A>T
c.1489A>T (p.Ile497Leu)
c.1534A>T (p.Ile512Leu)
n.1869A>T
c.1531A>T (p.Ile511Leu)
c.1456A>T (p.Ile486Leu)
c.1453A>T (p.Ile485Leu)
c.1441A>T (p.Ile481Leu)
11g.22259646T>ACA379922245ANO5c.1085T>A (p.Ile362Lys)
c.1493T>A (p.Ile498Lys)
n.2529T>A
c.1490T>A (p.Ile497Lys)
c.1535T>A (p.Ile512Lys)
n.1870T>A
c.1532T>A (p.Ile511Lys)
c.1457T>A (p.Ile486Lys)
c.1454T>A (p.Ile485Lys)
c.1442T>A (p.Ile481Lys)
11g.22259646T>CCA379922246ANO5c.1085T>C (p.Ile362Thr)
c.1493T>C (p.Ile498Thr)
n.2529T>C
c.1490T>C (p.Ile497Thr)
c.1535T>C (p.Ile512Thr)
n.1870T>C
c.1532T>C (p.Ile511Thr)
c.1457T>C (p.Ile486Thr)
c.1454T>C (p.Ile485Thr)
c.1442T>C (p.Ile481Thr)
 gnomAD v4
11g.22259646T>GCA379922247ANO5c.1085T>G (p.Ile362Arg)
c.1493T>G (p.Ile498Arg)
n.2529T>G
c.1490T>G (p.Ile497Arg)
c.1535T>G (p.Ile512Arg)
n.1870T>G
c.1532T>G (p.Ile511Arg)
c.1457T>G (p.Ile486Arg)
c.1454T>G (p.Ile485Arg)
c.1442T>G (p.Ile481Arg)
11g.22259647A=CA1957418757ANO5c.1086A= (p.Ile362=)
c.1494A= (p.Ile498=)
n.2530A=
c.1491A= (p.Ile497=)
c.1536A= (p.Ile512=)
n.1871A=
c.1533A= (p.Ile511=)
c.1458A= (p.Ile486=)
c.1455A= (p.Ile485=)
c.1443A= (p.Ile481=)
11g.22259647A>CCA473405080ANO5c.1086A>C (p.Ile362=)
c.1494A>C (p.Ile498=)
n.2530A>C
c.1491A>C (p.Ile497=)
c.1536A>C (p.Ile512=)
n.1871A>C
c.1533A>C (p.Ile511=)
c.1458A>C (p.Ile486=)
c.1455A>C (p.Ile485=)
c.1443A>C (p.Ile481=)
11g.22259647A>GCA379922248ANO5c.1086A>G (p.Ile362Met)
c.1494A>G (p.Ile498Met)
n.2530A>G
c.1491A>G (p.Ile497Met)
c.1536A>G (p.Ile512Met)
n.1871A>G
c.1533A>G (p.Ile511Met)
c.1458A>G (p.Ile486Met)
c.1455A>G (p.Ile485Met)
c.1443A>G (p.Ile481Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22259647A>TCA473405081ANO5c.1086A>T (p.Ile362=)
c.1494A>T (p.Ile498=)
n.2530A>T
c.1491A>T (p.Ile497=)
c.1536A>T (p.Ile512=)
n.1871A>T
c.1533A>T (p.Ile511=)
c.1458A>T (p.Ile486=)
c.1455A>T (p.Ile485=)
c.1443A>T (p.Ile481=)
11g.22259648A>CCA379922249ANO5c.1087A>C (p.Thr363Pro)
c.1495A>C (p.Thr499Pro)
n.2531A>C
c.1492A>C (p.Thr498Pro)
c.1537A>C (p.Thr513Pro)
n.1872A>C
c.1534A>C (p.Thr512Pro)
c.1459A>C (p.Thr487Pro)
c.1456A>C (p.Thr486Pro)
c.1444A>C (p.Thr482Pro)
11g.22259648A>GCA379922250ANO5c.1087A>G (p.Thr363Ala)
c.1495A>G (p.Thr499Ala)
n.2531A>G
c.1492A>G (p.Thr498Ala)
c.1537A>G (p.Thr513Ala)
n.1872A>G
c.1534A>G (p.Thr512Ala)
c.1459A>G (p.Thr487Ala)
c.1456A>G (p.Thr486Ala)
c.1444A>G (p.Thr482Ala)
11g.22259648A>TCA379922251ANO5c.1087A>T (p.Thr363Ser)
c.1495A>T (p.Thr499Ser)
n.2531A>T
c.1492A>T (p.Thr498Ser)
c.1537A>T (p.Thr513Ser)
n.1872A>T
c.1534A>T (p.Thr512Ser)
c.1459A>T (p.Thr487Ser)
c.1456A>T (p.Thr486Ser)
c.1444A>T (p.Thr482Ser)
11g.22259649C>ACA379922252ANO5c.1088C>A (p.Thr363Asn)
c.1496C>A (p.Thr499Asn)
n.2532C>A
c.1493C>A (p.Thr498Asn)
c.1538C>A (p.Thr513Asn)
n.1873C>A
c.1535C>A (p.Thr512Asn)
c.1460C>A (p.Thr487Asn)
c.1457C>A (p.Thr486Asn)
c.1445C>A (p.Thr482Asn)
11g.22259649C=CA1957418758ANO5c.1088C= (p.Thr363=)
c.1496C= (p.Thr499=)
n.2532C=
c.1493C= (p.Thr498=)
c.1538C= (p.Thr513=)
n.1873C=
c.1535C= (p.Thr512=)
c.1460C= (p.Thr487=)
c.1457C= (p.Thr486=)
c.1445C= (p.Thr482=)
11g.22259649C>GCA379922253ANO5c.1088C>G (p.Thr363Ser)
c.1496C>G (p.Thr499Ser)
n.2532C>G
c.1493C>G (p.Thr498Ser)
c.1538C>G (p.Thr513Ser)
n.1873C>G
c.1535C>G (p.Thr512Ser)
c.1460C>G (p.Thr487Ser)
c.1457C>G (p.Thr486Ser)
c.1445C>G (p.Thr482Ser)
11g.22259649C>TCA10606250ANO5c.1088C>T (p.Thr363Ile)
c.1496C>T (p.Thr499Ile)
n.2532C>T
c.1493C>T (p.Thr498Ile)
c.1538C>T (p.Thr513Ile)
n.1873C>T
c.1535C>T (p.Thr512Ile)
c.1460C>T (p.Thr487Ile)
c.1457C>T (p.Thr486Ile)
c.1445C>T (p.Thr482Ile)
 ClinVar dbSNP
11g.22259650C>ACA473405082ANO5c.1089C>A (p.Thr363=)
c.1497C>A (p.Thr499=)
n.2533C>A
c.1494C>A (p.Thr498=)
c.1539C>A (p.Thr513=)
n.1874C>A
c.1536C>A (p.Thr512=)
c.1461C>A (p.Thr487=)
c.1458C>A (p.Thr486=)
c.1446C>A (p.Thr482=)
 dbSNP gnomAD v2 gnomAD v4
11g.22259650C=CA1957418759ANO5c.1089C= (p.Thr363=)
c.1497C= (p.Thr499=)
n.2533C=
c.1494C= (p.Thr498=)
c.1539C= (p.Thr513=)
n.1874C=
c.1536C= (p.Thr512=)
c.1461C= (p.Thr487=)
c.1458C= (p.Thr486=)
c.1446C= (p.Thr482=)
11g.22259650C>GCA473405083ANO5c.1089C>G (p.Thr363=)
c.1497C>G (p.Thr499=)
n.2533C>G
c.1494C>G (p.Thr498=)
c.1539C>G (p.Thr513=)
n.1874C>G
c.1536C>G (p.Thr512=)
c.1461C>G (p.Thr487=)
c.1458C>G (p.Thr486=)
c.1446C>G (p.Thr482=)
 gnomAD v4
11g.22259650C>TCA473405084ANO5c.1089C>T (p.Thr363=)
c.1497C>T (p.Thr499=)
n.2533C>T
c.1494C>T (p.Thr498=)
c.1539C>T (p.Thr513=)
n.1874C>T
c.1536C>T (p.Thr512=)
c.1461C>T (p.Thr487=)
c.1458C>T (p.Thr486=)
c.1446C>T (p.Thr482=)
11g.22259651A>CCA379922254ANO5c.1090A>C (p.Thr364Pro)
c.1498A>C (p.Thr500Pro)
n.2534A>C
c.1495A>C (p.Thr499Pro)
c.1540A>C (p.Thr514Pro)
n.1875A>C
c.1537A>C (p.Thr513Pro)
c.1462A>C (p.Thr488Pro)
c.1459A>C (p.Thr487Pro)
c.1447A>C (p.Thr483Pro)
11g.22259651A>GCA379922255ANO5c.1090A>G (p.Thr364Ala)
c.1498A>G (p.Thr500Ala)
n.2534A>G
c.1495A>G (p.Thr499Ala)
c.1540A>G (p.Thr514Ala)
n.1875A>G
c.1537A>G (p.Thr513Ala)
c.1462A>G (p.Thr488Ala)
c.1459A>G (p.Thr487Ala)
c.1447A>G (p.Thr483Ala)
11g.22259651A>TCA379922256ANO5c.1090A>T (p.Thr364Ser)
c.1498A>T (p.Thr500Ser)
n.2534A>T
c.1495A>T (p.Thr499Ser)
c.1540A>T (p.Thr514Ser)
n.1875A>T
c.1537A>T (p.Thr513Ser)
c.1462A>T (p.Thr488Ser)
c.1459A>T (p.Thr487Ser)
c.1447A>T (p.Thr483Ser)
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)
 ClinVar 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)
 ClinVar 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=)
11g.22259666T>ACA379922280ANO5c.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)
11g.22259666T>CCA379922281ANO5c.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)
11g.22259666T>GCA379922282ANO5c.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)
11g.22259667C>ACA379922285ANO5c.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)
11g.22259667C>GCA379922283ANO5c.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)
11g.22259667C>TCA379922284ANO5c.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)
11g.22259668A>CCA473405096ANO5c.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=)
11g.22259668A>GCA473405098ANO5c.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=)
11g.22259668A>TCA473405097ANO5c.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=)
11g.22259669T>ACA379922286ANO5c.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)
11g.22259669T>CCA379922287ANO5c.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)
11g.22259669T>GCA379922288ANO5c.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)
11g.22259670G>ACA5923281ANO5c.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
11g.22259670G>CCA379922289ANO5c.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)
11g.22259670G=CA1957418768ANO5c.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=)
11g.22259670G>TCA379922290ANO5c.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)
11g.22259671C>ACA379922291ANO5c.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)
11g.22259671C=CA1957418769ANO5c.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=)
11g.22259671C>GCA379922292ANO5c.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
11g.22259671C>TCA473405099ANO5c.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
11g.22259672T>ACA379922293ANO5c.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)
11g.22259672T>CCA473405100ANO5c.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
11g.22259672T>GCA379922294ANO5c.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)
11g.22259672T=CA1957418770ANO5c.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=)
11g.22259673T>ACA379922295ANO5c.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)
11g.22259673T>CCA379922296ANO5c.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
11g.22259673T>GCA379922297ANO5c.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)
11g.22259673T=CA1957418771ANO5c.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=)
11g.22259674G>ACA5923283ANO5c.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
11g.22259674G>CCA379922298ANO5c.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
11g.22259674G=CA1957418772ANO5c.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=)
11g.22259674G>TCA5923282ANO5c.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
11g.22259675A>CCA379922299ANO5c.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)
11g.22259675A>GCA379922300ANO5c.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
11g.22259675A>TCA379922301ANO5c.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)
11g.22259676A>CCA379922302ANO5c.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)
11g.22259676A>GCA379922303ANO5c.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)
11g.22259676A>TCA379922304ANO5c.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)
11g.22259677C>ACA379922305ANO5c.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)
11g.22259677C>GCA379922306ANO5c.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)
11g.22259677C>TCA473405101ANO5c.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
11g.22259678T>ACA379922307ANO5c.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)
11g.22259678T>CCA379922308ANO5c.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)
11g.22259678T>GCA379922309ANO5c.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
11g.22259678T=CA1957418773ANO5c.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=)
11g.22259679T>ACA379922310ANO5c.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)
11g.22259679T>CCA379922311ANO5c.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)
11g.22259679T>GCA379922312ANO5c.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)
11g.22259680T>ACA379922314ANO5c.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)
11g.22259680T>CCA473405102ANO5c.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
11g.22259680T>GCA379922313ANO5c.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
11g.22259681A=CA1957418774ANO5c.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=)
11g.22259681A>CCA379922315ANO5c.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)
11g.22259681A>GCA218765767ANO5c.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
11g.22259681A>TCA379922316ANO5c.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)
11g.22259682T>ACA379922317ANO5c.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)
11g.22259682T>CCA379922318ANO5c.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)
11g.22259682T>GCA379922319ANO5c.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)
11g.22259683T>ACA473405103ANO5c.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=)
11g.22259683T>CCA473405104ANO5c.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=)
11g.22259683T>GCA379922320ANO5c.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)
11g.22259684G>ACA5923284ANO5c.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
11g.22259684G>CCA379922321ANO5c.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)
11g.22259684G=CA1957418775ANO5c.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=)
11g.22259684G>TCA379922322ANO5c.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)
11g.22259685T>ACA379922323ANO5c.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)
11g.22259685T>CCA379922324ANO5c.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)
11g.22259685T>GCA379922325ANO5c.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)
11g.22259686C>ACA473405105ANO5c.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=)
11g.22259686C>GCA473405106ANO5c.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=)
11g.22259686C>TCA473405107ANO5c.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=)
11g.22259687A>CCA379922328ANO5c.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
11g.22259687A>GCA379922326ANO5c.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
11g.22259687A>TCA379922327ANO5c.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)
11g.22259688T>ACA379922329ANO5c.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)
11g.22259688T>CCA379922331ANO5c.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)
11g.22259688T>GCA379922330ANO5c.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)
11g.22259689C>ACA473405108ANO5c.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=)
11g.22259689C=CA1957418776ANO5c.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=)
11g.22259689C>GCA5923285ANO5c.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
11g.22259689C>TCA473405109ANO5c.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=)
11g.22259690T>ACA379922332ANO5c.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)
11g.22259690T>CCA473405111ANO5c.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=)
11g.22259690T>GCA379922333ANO5c.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)
11g.22259691T>ACA379922334ANO5c.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)
11g.22259691T>CCA379922335ANO5c.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)
11g.22259691T>GCA379922336ANO5c.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)
11g.22259692G>ACA473405112ANO5c.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=)
11g.22259692G>CCA379922337ANO5c.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)
11g.22259692G>TCA379922338ANO5c.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)
11g.22259693A>CCA379922339ANO5c.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)
11g.22259693A>GCA379922340ANO5c.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)
11g.22259693A>TCA379922341ANO5c.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)
11g.22259694T>ACA379922344ANO5c.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)
11g.22259694T>CCA379922343ANO5c.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)
11g.22259694T>GCA379922342ANO5c.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)
11g.22259695C>ACA5923286ANO5c.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
11g.22259695C=CA1957418777ANO5c.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=)
11g.22259695C>GCA379922345ANO5c.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)
11g.22259695C>TCA473405113ANO5c.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
11g.22259696T>ACA379922346ANO5c.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)
11g.22259696T>CCA473405114ANO5c.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
11g.22259696T>GCA379922347ANO5c.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)
11g.22259696T=CA1957418778ANO5c.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=)
11g.22259697T>ACA379922348ANO5c.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)
11g.22259697T>CCA5923287ANO5c.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
11g.22259697T>GCA379922349ANO5c.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)
11g.22259697T=CA1957418779ANO5c.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=)
11g.22259698G>ACA473405115ANO5c.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=)
11g.22259698G>CCA379922350ANO5c.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)
11g.22259698G=CA1957418780ANO5c.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=)
11g.22259698G>TCA379922351ANO5c.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
11g.22259699A>CCA379922352ANO5c.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)
11g.22259699A>GCA379922353ANO5c.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)
11g.22259699A>TCA379922354ANO5c.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)
11g.22259700A>CCA379922357ANO5c.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)
11g.22259700A>GCA379922356ANO5c.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)
11g.22259700A>TCA379922355ANO5c.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)
11g.22259701T>ACA379922359ANO5c.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)
11g.22259701T>CCA473405116ANO5c.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=)
11g.22259701T>GCA379922358ANO5c.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)
11g.22259704_22259708delCA2573053479ANO5c.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
11g.22259702T>ACA379922360ANO5c.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)
11g.22259702T>CCA379922361ANO5c.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)
11g.22259702T>GCA379922362ANO5c.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)
11g.22259703T>ACA379922363ANO5c.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)
11g.22259703T>CCA379922364ANO5c.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)
11g.22259703T>GCA379922365ANO5c.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)
11g.22259704C>ACA379922366ANO5c.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)
11g.22259704C>GCA379922367ANO5c.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)
11g.22259704C>TCA473405117ANO5c.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
11g.22259705T>ACA379922368ANO5c.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)
11g.22259705T>CCA5923288ANO5c.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
11g.22259705T>GCA379922369ANO5c.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)
11g.22259705T=CA1957418781ANO5c.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=)
11g.22259708delCA2612837731ANO5c.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
11g.22259706T>ACA379922372ANO5c.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)
11g.22259706T>CCA379922371ANO5c.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
11g.22259706T>GCA379922370ANO5c.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)
11g.22259707T>ACA379922373ANO5c.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)
11g.22259707T>CCA473405118ANO5c.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
11g.22259707T>GCA379922374ANO5c.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)
11g.22259708T>ACA379922375ANO5c.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)
11g.22259708T>CCA379922376ANO5c.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
11g.22259708T>GCA379922377ANO5c.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)
11g.22259708T=CA1957418782ANO5c.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=)
11g.22259709A=CA1957418783ANO5c.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=)
11g.22259709A>CCA379922378ANO5c.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)
11g.22259709A>GCA5923289ANO5c.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
11g.22259709A>TCA379922379ANO5c.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)
11g.22259710T>ACA379922380ANO5c.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)
11g.22259710T>CCA473405119ANO5c.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
11g.22259710T>GCA379922381ANO5c.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)
11g.22259710T=CA1957418784ANO5c.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=)
11g.22259710_22259711insTAAATAGGCA2546299826ANO5c.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)
11g.22259711G>ACA379922382ANO5c.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)
11g.22259711G>CCA379922383ANO5c.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)
11g.22259711G>TCA379922384ANO5c.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)
11g.22259712A=CA1957418785ANO5c.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=)
11g.22259712A>CCA379922385ANO5c.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)
11g.22259712A>GCA379922386ANO5c.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)
11g.22259712A>TCA5923290ANO5c.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
11g.22259713A=CA1957418786ANO5c.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=)
11g.22259713A>CCA379922387ANO5c.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)
11g.22259713A>GCA473405120ANO5c.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
11g.22259713A>TCA218765787ANO5c.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
11g.22259713_22259714insTCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCACA2524703748ANO5c.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)
11g.22259714A=CA1957418787ANO5c.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=)
11g.22259714A>CCA379922388ANO5c.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)
11g.22259714A>GCA379922390ANO5c.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)
11g.22259714A>TCA379922389ANO5c.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
11g.22259715A>CCA379922391ANO5c.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)
11g.22259715A>GCA379922392ANO5c.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)
11g.22259715A>TCA379922393ANO5c.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)
11g.22259716G>ACA473405121ANO5c.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
11g.22259716G>CCA379922394ANO5c.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)
11g.22259716G=CA1957418788ANO5c.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=)
11g.22259716G>TCA379922395ANO5c.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
11g.22259717A=CA1957418789ANO5c.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=)
11g.22259717A>CCA5923291ANO5c.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
11g.22259717A>GCA379922396ANO5c.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
11g.22259717A>TCA379922397ANO5c.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
11g.22259718T>ACA379922398ANO5c.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)
11g.22259718T>CCA379922399ANO5c.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)
11g.22259718T>GCA379922400ANO5c.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)
11g.22259719A>CCA473405122ANO5c.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=)
11g.22259719A>GCA379922401ANO5c.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)
11g.22259719A>TCA473405123ANO5c.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=)
11g.22259720T>ACA379922402ANO5c.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
11g.22259720T>CCA5923292ANO5c.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
11g.22259720T>GCA379922403ANO5c.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)
11g.22259720T=CA1957418790ANO5c.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=)
11g.22259721_22259722delCA2612837742ANO5c.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
11g.22259721C>ACA379922404ANO5c.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)
11g.22259721C=CA1957418791ANO5c.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=)
11g.22259721C>GCA379922405ANO5c.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
11g.22259721C>TCA379922406ANO5c.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)
11g.22259722T>ACA473405124ANO5c.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=)
11g.22259722T>CCA473405125ANO5c.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=)
11g.22259722T>GCA473405126ANO5c.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=)
11g.22259723G>ACA379922407ANO5c.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)
11g.22259723G>CCA379922408ANO5c.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)
11g.22259723G=CA1957418792ANO5c.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=)
11g.22259723G>TCA379922409ANO5c.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
11g.22259723_22259724delinsTTCA2740093655ANO5c.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
11g.22259724C>ACA379922410ANO5c.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)
11g.22259724C=CA1957418793ANO5c.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=)
11g.22259724C>GCA379922411ANO5c.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
11g.22259724C>TCA379922412ANO5c.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)
11g.22259725C>ACA473405127ANO5c.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=)
11g.22259725C>GCA473405128ANO5c.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=)
11g.22259725C>TCA473405129ANO5c.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
11g.22259726T>ACA379922414ANO5c.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)
11g.22259726T>CCA379922415ANO5c.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)
11g.22259726T>GCA379922413ANO5c.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
11g.22259726T=CA1957418794ANO5c.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=)
11g.22259727G>ACA379922416ANO5c.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)
11g.22259727G>CCA379922417ANO5c.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)
11g.22259727G>TCA379922418ANO5c.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)
11g.22259728G>ACA379922419ANO5c.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
11g.22259728G>CCA379922420ANO5c.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)
11g.22259728G>TCA379922421ANO5c.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)
11g.22259729A>CCA379922422ANO5c.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)
11g.22259729A>GCA379922423ANO5c.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)
11g.22259729A>TCA379922424ANO5c.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)
11g.22259730T>ACA379922425ANO5c.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)
11g.22259730T>CCA379922426ANO5c.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)
11g.22259730T>GCA379922427ANO5c.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)
11g.22259731C>ACA473405131ANO5c.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=)
11g.22259731C>GCA379922428ANO5c.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)
11g.22259731C>TCA473405130ANO5c.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=)
11g.22259732A=CA1957418795ANO5c.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=)
11g.22259732A>CCA379922431ANO5c.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)
11g.22259732A>GCA379922430ANO5c.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
11g.22259732A>TCA379922429ANO5c.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)
11g.22259733C>ACA379922432ANO5c.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)
11g.22259733C=CA1957418796ANO5c.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=)
11g.22259733C>GCA379922433ANO5c.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)
11g.22259733C>TCA379922434ANO5c.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)
11g.22259734A>CCA473405132ANO5c.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
11g.22259734A>GCA473405133ANO5c.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
11g.22259734A>TCA473405134ANO5c.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=)
11g.22259738dupCA5923293ANO5c.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
11g.22259735A>CCA379922435ANO5c.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)
11g.22259735A>GCA379922436ANO5c.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)
11g.22259735A>TCA379922437ANO5c.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)
11g.22259736A>CCA379922438ANO5c.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)
11g.22259736A>GCA379922439ANO5c.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)
11g.22259736A>TCA379922440ANO5c.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)

Number of alleles fetched