Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.55229008T>ACA402528941TCF4c.1718A>T (p.Asn573Ile)
c.1598A>T (p.Asn533Ile)
n.1398A>T
c.1646A>T (p.Asn549Ile)
c.*1426A>T (n.*1426A>T)
c.1328A>T (p.Asn443Ile)
c.*1596A>T (n.*1596A>T)
c.1070A>T (p.Asn357Ile)
n.1773A>T
n.1412A>T
c.1316A>T
c.1745A>T (p.Asn582Ile)
c.*1329A>T (n.*1329A>T)
c.1706A>T (p.Asn569Ile)
c.2024A>T (p.Asn675Ile)
c.1238A>T (p.Asn413Ile)
c.1316A>T (p.Asn439Ile)
c.1634A>T (p.Asn545Ile)
c.1580A>T (p.Asn527Ile)
c.1505A>T (p.Asn502Ile)
c.1226A>T (p.Asn409Ile)
n.5241A>T
c.1493A>T (p.Asn498Ile)
c.1736A>T (p.Asn579Ile)
c.1454A>T (p.Asn485Ile)
c.1538A>T (p.Asn513Ile)
c.1697A>T (p.Asn566Ile)
c.1526A>T (p.Asn509Ile)
c.1631A>T (p.Asn544Ile)
n.741A>T
c.1058A>T (p.Asn353Ile)
c.1715A>T (p.Asn572Ile)
c.1643A>T (p.Asn548Ile)
c.1592A>T (p.Asn531Ile)
c.1508A>T (p.Asn503Ile)
c.1235A>T (p.Asn412Ile)
c.2021A>T (p.Asn674Ile)
c.2012A>T (p.Asn671Ile)
c.2009A>T (p.Asn670Ile)
c.1712A>T (p.Asn571Ile)
c.1223A>T (p.Asn408Ile)
c.1703A>T (p.Asn568Ile)
c.1628A>T (p.Asn543Ile)
c.1589A>T (p.Asn530Ile)
c.1502A>T (p.Asn501Ile)
c.1496A>T (p.Asn499Ile)
c.1325A>T (p.Asn442Ile)
c.1481A>T (p.Asn494Ile)
c.1649A>T (p.Asn550Ile)
18g.55229008T>CCA402528942TCF4c.1718A>G (p.Asn573Ser)
c.1598A>G (p.Asn533Ser)
n.1398A>G
c.1646A>G (p.Asn549Ser)
c.*1426A>G (n.*1426A>G)
c.1328A>G (p.Asn443Ser)
c.*1596A>G (n.*1596A>G)
c.1070A>G (p.Asn357Ser)
n.1773A>G
n.1412A>G
c.1316A>G
c.1745A>G (p.Asn582Ser)
c.*1329A>G (n.*1329A>G)
c.1706A>G (p.Asn569Ser)
c.2024A>G (p.Asn675Ser)
c.1238A>G (p.Asn413Ser)
c.1316A>G (p.Asn439Ser)
c.1634A>G (p.Asn545Ser)
c.1580A>G (p.Asn527Ser)
c.1505A>G (p.Asn502Ser)
c.1226A>G (p.Asn409Ser)
n.5241A>G
c.1493A>G (p.Asn498Ser)
c.1736A>G (p.Asn579Ser)
c.1454A>G (p.Asn485Ser)
c.1538A>G (p.Asn513Ser)
c.1697A>G (p.Asn566Ser)
c.1526A>G (p.Asn509Ser)
c.1631A>G (p.Asn544Ser)
n.741A>G
c.1058A>G (p.Asn353Ser)
c.1715A>G (p.Asn572Ser)
c.1643A>G (p.Asn548Ser)
c.1592A>G (p.Asn531Ser)
c.1508A>G (p.Asn503Ser)
c.1235A>G (p.Asn412Ser)
c.2021A>G (p.Asn674Ser)
c.2012A>G (p.Asn671Ser)
c.2009A>G (p.Asn670Ser)
c.1712A>G (p.Asn571Ser)
c.1223A>G (p.Asn408Ser)
c.1703A>G (p.Asn568Ser)
c.1628A>G (p.Asn543Ser)
c.1589A>G (p.Asn530Ser)
c.1502A>G (p.Asn501Ser)
c.1496A>G (p.Asn499Ser)
c.1325A>G (p.Asn442Ser)
c.1481A>G (p.Asn494Ser)
c.1649A>G (p.Asn550Ser)
18g.55229008T>GCA402528943TCF4c.1718A>C (p.Asn573Thr)
c.1598A>C (p.Asn533Thr)
n.1398A>C
c.1646A>C (p.Asn549Thr)
c.*1426A>C (n.*1426A>C)
c.1328A>C (p.Asn443Thr)
c.*1596A>C (n.*1596A>C)
c.1070A>C (p.Asn357Thr)
n.1773A>C
n.1412A>C
c.1316A>C
c.1745A>C (p.Asn582Thr)
c.*1329A>C (n.*1329A>C)
c.1706A>C (p.Asn569Thr)
c.2024A>C (p.Asn675Thr)
c.1238A>C (p.Asn413Thr)
c.1316A>C (p.Asn439Thr)
c.1634A>C (p.Asn545Thr)
c.1580A>C (p.Asn527Thr)
c.1505A>C (p.Asn502Thr)
c.1226A>C (p.Asn409Thr)
n.5241A>C
c.1493A>C (p.Asn498Thr)
c.1736A>C (p.Asn579Thr)
c.1454A>C (p.Asn485Thr)
c.1538A>C (p.Asn513Thr)
c.1697A>C (p.Asn566Thr)
c.1526A>C (p.Asn509Thr)
c.1631A>C (p.Asn544Thr)
n.741A>C
c.1058A>C (p.Asn353Thr)
c.1715A>C (p.Asn572Thr)
c.1643A>C (p.Asn548Thr)
c.1592A>C (p.Asn531Thr)
c.1508A>C (p.Asn503Thr)
c.1235A>C (p.Asn412Thr)
c.2021A>C (p.Asn674Thr)
c.2012A>C (p.Asn671Thr)
c.2009A>C (p.Asn670Thr)
c.1712A>C (p.Asn571Thr)
c.1223A>C (p.Asn408Thr)
c.1703A>C (p.Asn568Thr)
c.1628A>C (p.Asn543Thr)
c.1589A>C (p.Asn530Thr)
c.1502A>C (p.Asn501Thr)
c.1496A>C (p.Asn499Thr)
c.1325A>C (p.Asn442Thr)
c.1481A>C (p.Asn494Thr)
c.1649A>C (p.Asn550Thr)
18g.55229009T>ACA402528944TCF4c.1717A>T (p.Asn573Tyr)
c.1597A>T (p.Asn533Tyr)
n.1397A>T
c.1645A>T (p.Asn549Tyr)
c.*1425A>T (n.*1425A>T)
c.1327A>T (p.Asn443Tyr)
c.*1595A>T (n.*1595A>T)
c.1069A>T (p.Asn357Tyr)
n.1772A>T
n.1411A>T
c.1315A>T
c.1744A>T (p.Asn582Tyr)
c.*1328A>T (n.*1328A>T)
c.1705A>T (p.Asn569Tyr)
c.2023A>T (p.Asn675Tyr)
c.1237A>T (p.Asn413Tyr)
c.1315A>T (p.Asn439Tyr)
c.1633A>T (p.Asn545Tyr)
c.1579A>T (p.Asn527Tyr)
c.1504A>T (p.Asn502Tyr)
c.1225A>T (p.Asn409Tyr)
n.5240A>T
c.1492A>T (p.Asn498Tyr)
c.1735A>T (p.Asn579Tyr)
c.1453A>T (p.Asn485Tyr)
c.1537A>T (p.Asn513Tyr)
c.1696A>T (p.Asn566Tyr)
c.1525A>T (p.Asn509Tyr)
c.1630A>T (p.Asn544Tyr)
n.740A>T
c.1057A>T (p.Asn353Tyr)
c.1714A>T (p.Asn572Tyr)
c.1642A>T (p.Asn548Tyr)
c.1591A>T (p.Asn531Tyr)
c.1507A>T (p.Asn503Tyr)
c.1234A>T (p.Asn412Tyr)
c.2020A>T (p.Asn674Tyr)
c.2011A>T (p.Asn671Tyr)
c.2008A>T (p.Asn670Tyr)
c.1711A>T (p.Asn571Tyr)
c.1222A>T (p.Asn408Tyr)
c.1702A>T (p.Asn568Tyr)
c.1627A>T (p.Asn543Tyr)
c.1588A>T (p.Asn530Tyr)
c.1501A>T (p.Asn501Tyr)
c.1495A>T (p.Asn499Tyr)
c.1324A>T (p.Asn442Tyr)
c.1480A>T (p.Asn494Tyr)
c.1648A>T (p.Asn550Tyr)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
18g.55229009T>CCA402528945TCF4c.1717A>G (p.Asn573Asp)
c.1597A>G (p.Asn533Asp)
n.1397A>G
c.1645A>G (p.Asn549Asp)
c.*1425A>G (n.*1425A>G)
c.1327A>G (p.Asn443Asp)
c.*1595A>G (n.*1595A>G)
c.1069A>G (p.Asn357Asp)
n.1772A>G
n.1411A>G
c.1315A>G
c.1744A>G (p.Asn582Asp)
c.*1328A>G (n.*1328A>G)
c.1705A>G (p.Asn569Asp)
c.2023A>G (p.Asn675Asp)
c.1237A>G (p.Asn413Asp)
c.1315A>G (p.Asn439Asp)
c.1633A>G (p.Asn545Asp)
c.1579A>G (p.Asn527Asp)
c.1504A>G (p.Asn502Asp)
c.1225A>G (p.Asn409Asp)
n.5240A>G
c.1492A>G (p.Asn498Asp)
c.1735A>G (p.Asn579Asp)
c.1453A>G (p.Asn485Asp)
c.1537A>G (p.Asn513Asp)
c.1696A>G (p.Asn566Asp)
c.1525A>G (p.Asn509Asp)
c.1630A>G (p.Asn544Asp)
n.740A>G
c.1057A>G (p.Asn353Asp)
c.1714A>G (p.Asn572Asp)
c.1642A>G (p.Asn548Asp)
c.1591A>G (p.Asn531Asp)
c.1507A>G (p.Asn503Asp)
c.1234A>G (p.Asn412Asp)
c.2020A>G (p.Asn674Asp)
c.2011A>G (p.Asn671Asp)
c.2008A>G (p.Asn670Asp)
c.1711A>G (p.Asn571Asp)
c.1222A>G (p.Asn408Asp)
c.1702A>G (p.Asn568Asp)
c.1627A>G (p.Asn543Asp)
c.1588A>G (p.Asn530Asp)
c.1501A>G (p.Asn501Asp)
c.1495A>G (p.Asn499Asp)
c.1324A>G (p.Asn442Asp)
c.1480A>G (p.Asn494Asp)
c.1648A>G (p.Asn550Asp)
 ClinVar
18g.55229009T>GCA402528946TCF4c.1717A>C (p.Asn573His)
c.1597A>C (p.Asn533His)
n.1397A>C
c.1645A>C (p.Asn549His)
c.*1425A>C (n.*1425A>C)
c.1327A>C (p.Asn443His)
c.*1595A>C (n.*1595A>C)
c.1069A>C (p.Asn357His)
n.1772A>C
n.1411A>C
c.1315A>C
c.1744A>C (p.Asn582His)
c.*1328A>C (n.*1328A>C)
c.1705A>C (p.Asn569His)
c.2023A>C (p.Asn675His)
c.1237A>C (p.Asn413His)
c.1315A>C (p.Asn439His)
c.1633A>C (p.Asn545His)
c.1579A>C (p.Asn527His)
c.1504A>C (p.Asn502His)
c.1225A>C (p.Asn409His)
n.5240A>C
c.1492A>C (p.Asn498His)
c.1735A>C (p.Asn579His)
c.1453A>C (p.Asn485His)
c.1537A>C (p.Asn513His)
c.1696A>C (p.Asn566His)
c.1525A>C (p.Asn509His)
c.1630A>C (p.Asn544His)
n.740A>C
c.1057A>C (p.Asn353His)
c.1714A>C (p.Asn572His)
c.1642A>C (p.Asn548His)
c.1591A>C (p.Asn531His)
c.1507A>C (p.Asn503His)
c.1234A>C (p.Asn412His)
c.2020A>C (p.Asn674His)
c.2011A>C (p.Asn671His)
c.2008A>C (p.Asn670His)
c.1711A>C (p.Asn571His)
c.1222A>C (p.Asn408His)
c.1702A>C (p.Asn568His)
c.1627A>C (p.Asn543His)
c.1588A>C (p.Asn530His)
c.1501A>C (p.Asn501His)
c.1495A>C (p.Asn499His)
c.1324A>C (p.Asn442His)
c.1480A>C (p.Asn494His)
c.1648A>C (p.Asn550His)
18g.55229009_55229010delinsTGCA2305004860TCF4c.1716_1717delinsCA (p.Ala572=)
c.1596_1597delinsCA (p.Ala532=)
n.1396_1397delinsCA
c.1644_1645delinsCA (p.Ala548=)
c.*1424_*1425delinsCA (n.*1424_*1425delinsCA)
c.1326_1327delinsCA (p.Ala442=)
c.*1594_*1595delinsCA (n.*1594_*1595delinsCA)
c.1068_1069delinsCA (p.Ala356=)
n.1771_1772delinsCA
n.1410_1411delinsCA
c.1314_1315delinsCA
c.1743_1744delinsCA (p.Ala581=)
c.*1327_*1328delinsCA (n.*1327_*1328delinsCA)
c.1704_1705delinsCA (p.Ala568=)
c.2022_2023delinsCA (p.Ala674=)
c.1236_1237delinsCA (p.Ala412=)
c.1314_1315delinsCA (p.Ala438=)
c.1632_1633delinsCA (p.Ala544=)
c.1578_1579delinsCA (p.Ala526=)
c.1503_1504delinsCA (p.Ala501=)
c.1224_1225delinsCA (p.Ala408=)
n.5239_5240delinsCA
c.1491_1492delinsCA (p.Ala497=)
c.1734_1735delinsCA (p.Ala578=)
c.1452_1453delinsCA (p.Ala484=)
c.1536_1537delinsCA (p.Ala512=)
c.1695_1696delinsCA (p.Ala565=)
c.1524_1525delinsCA (p.Ala508=)
c.1629_1630delinsCA (p.Ala543=)
n.739_740delinsCA
c.1056_1057delinsCA (p.Ala352=)
c.1713_1714delinsCA (p.Ala571=)
c.1641_1642delinsCA (p.Ala547=)
c.1590_1591delinsCA (p.Ala530=)
c.1506_1507delinsCA (p.Ala502=)
c.1233_1234delinsCA (p.Ala411=)
c.2019_2020delinsCA (p.Ala673=)
c.2010_2011delinsCA (p.Ala670=)
c.2007_2008delinsCA (p.Ala669=)
c.1710_1711delinsCA (p.Ala570=)
c.1221_1222delinsCA (p.Ala407=)
c.1701_1702delinsCA (p.Ala567=)
c.1626_1627delinsCA (p.Ala542=)
c.1587_1588delinsCA (p.Ala529=)
c.1500_1501delinsCA (p.Ala500=)
c.1494_1495delinsCA (p.Ala498=)
c.1323_1324delinsCA (p.Ala441=)
c.1479_1480delinsCA (p.Ala493=)
c.1647_1648delinsCA (p.Ala549=)
18g.55229010G>ACA504003079TCF4c.1716C>T (p.Ala572=)
c.1596C>T (p.Ala532=)
n.1396C>T
c.1644C>T (p.Ala548=)
c.*1424C>T (n.*1424C>T)
c.1326C>T (p.Ala442=)
c.*1594C>T (n.*1594C>T)
c.1068C>T (p.Ala356=)
n.1771C>T
n.1410C>T
c.1314C>T
c.1743C>T (p.Ala581=)
c.*1327C>T (n.*1327C>T)
c.1704C>T (p.Ala568=)
c.2022C>T (p.Ala674=)
c.1236C>T (p.Ala412=)
c.1314C>T (p.Ala438=)
c.1632C>T (p.Ala544=)
c.1578C>T (p.Ala526=)
c.1503C>T (p.Ala501=)
c.1224C>T (p.Ala408=)
n.5239C>T
c.1491C>T (p.Ala497=)
c.1734C>T (p.Ala578=)
c.1452C>T (p.Ala484=)
c.1536C>T (p.Ala512=)
c.1695C>T (p.Ala565=)
c.1524C>T (p.Ala508=)
c.1629C>T (p.Ala543=)
n.739C>T
c.1056C>T (p.Ala352=)
c.1713C>T (p.Ala571=)
c.1641C>T (p.Ala547=)
c.1590C>T (p.Ala530=)
c.1506C>T (p.Ala502=)
c.1233C>T (p.Ala411=)
c.2019C>T (p.Ala673=)
c.2010C>T (p.Ala670=)
c.2007C>T (p.Ala669=)
c.1710C>T (p.Ala570=)
c.1221C>T (p.Ala407=)
c.1701C>T (p.Ala567=)
c.1626C>T (p.Ala542=)
c.1587C>T (p.Ala529=)
c.1500C>T (p.Ala500=)
c.1494C>T (p.Ala498=)
c.1323C>T (p.Ala441=)
c.1479C>T (p.Ala493=)
c.1647C>T (p.Ala549=)
18g.55229010G>CCA504003081TCF4c.1716C>G (p.Ala572=)
c.1596C>G (p.Ala532=)
n.1396C>G
c.1644C>G (p.Ala548=)
c.*1424C>G (n.*1424C>G)
c.1326C>G (p.Ala442=)
c.*1594C>G (n.*1594C>G)
c.1068C>G (p.Ala356=)
n.1771C>G
n.1410C>G
c.1314C>G
c.1743C>G (p.Ala581=)
c.*1327C>G (n.*1327C>G)
c.1704C>G (p.Ala568=)
c.2022C>G (p.Ala674=)
c.1236C>G (p.Ala412=)
c.1314C>G (p.Ala438=)
c.1632C>G (p.Ala544=)
c.1578C>G (p.Ala526=)
c.1503C>G (p.Ala501=)
c.1224C>G (p.Ala408=)
n.5239C>G
c.1491C>G (p.Ala497=)
c.1734C>G (p.Ala578=)
c.1452C>G (p.Ala484=)
c.1536C>G (p.Ala512=)
c.1695C>G (p.Ala565=)
c.1524C>G (p.Ala508=)
c.1629C>G (p.Ala543=)
n.739C>G
c.1056C>G (p.Ala352=)
c.1713C>G (p.Ala571=)
c.1641C>G (p.Ala547=)
c.1590C>G (p.Ala530=)
c.1506C>G (p.Ala502=)
c.1233C>G (p.Ala411=)
c.2019C>G (p.Ala673=)
c.2010C>G (p.Ala670=)
c.2007C>G (p.Ala669=)
c.1710C>G (p.Ala570=)
c.1221C>G (p.Ala407=)
c.1701C>G (p.Ala567=)
c.1626C>G (p.Ala542=)
c.1587C>G (p.Ala529=)
c.1500C>G (p.Ala500=)
c.1494C>G (p.Ala498=)
c.1323C>G (p.Ala441=)
c.1479C>G (p.Ala493=)
c.1647C>G (p.Ala549=)
18g.55229010G>TCA504003083TCF4c.1716C>A (p.Ala572=)
c.1596C>A (p.Ala532=)
n.1396C>A
c.1644C>A (p.Ala548=)
c.*1424C>A (n.*1424C>A)
c.1326C>A (p.Ala442=)
c.*1594C>A (n.*1594C>A)
c.1068C>A (p.Ala356=)
n.1771C>A
n.1410C>A
c.1314C>A
c.1743C>A (p.Ala581=)
c.*1327C>A (n.*1327C>A)
c.1704C>A (p.Ala568=)
c.2022C>A (p.Ala674=)
c.1236C>A (p.Ala412=)
c.1314C>A (p.Ala438=)
c.1632C>A (p.Ala544=)
c.1578C>A (p.Ala526=)
c.1503C>A (p.Ala501=)
c.1224C>A (p.Ala408=)
n.5239C>A
c.1491C>A (p.Ala497=)
c.1734C>A (p.Ala578=)
c.1452C>A (p.Ala484=)
c.1536C>A (p.Ala512=)
c.1695C>A (p.Ala565=)
c.1524C>A (p.Ala508=)
c.1629C>A (p.Ala543=)
n.739C>A
c.1056C>A (p.Ala352=)
c.1713C>A (p.Ala571=)
c.1641C>A (p.Ala547=)
c.1590C>A (p.Ala530=)
c.1506C>A (p.Ala502=)
c.1233C>A (p.Ala411=)
c.2019C>A (p.Ala673=)
c.2010C>A (p.Ala670=)
c.2007C>A (p.Ala669=)
c.1710C>A (p.Ala570=)
c.1221C>A (p.Ala407=)
c.1701C>A (p.Ala567=)
c.1626C>A (p.Ala542=)
c.1587C>A (p.Ala529=)
c.1500C>A (p.Ala500=)
c.1494C>A (p.Ala498=)
c.1323C>A (p.Ala441=)
c.1479C>A (p.Ala493=)
c.1647C>A (p.Ala549=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
18g.55229011delCA16620712TCF4c.1716del (p.Asn573ThrfsTer?)
c.1596del (p.Asn533ThrfsTer?)
n.1396del
c.1644del (p.Asn549ThrfsTer?)
c.*1424del (n.*1424del)
c.1326del (p.Asn443ThrfsTer?)
c.*1594del (n.*1594del)
c.1068del (p.Asn357ThrfsTer?)
n.1771del
n.1410del
c.1314del
c.1743del (p.Asn582ThrfsTer?)
c.*1327del (n.*1327del)
c.1704del (p.Asn569ThrfsTer?)
c.2022del (p.Asn675ThrfsTer?)
c.1236del (p.Asn413ThrfsTer?)
c.1314del (p.Asn439ThrfsTer?)
c.1632del (p.Asn545ThrfsTer?)
c.1578del (p.Asn527ThrfsTer?)
c.1503del (p.Asn502ThrfsTer?)
c.1224del (p.Asn409ThrfsTer?)
n.5239del
c.1491del (p.Asn498ThrfsTer?)
c.1734del (p.Asn579ThrfsTer?)
c.1452del (p.Asn485ThrfsTer?)
c.1536del (p.Asn513ThrfsTer?)
c.1695del (p.Asn566ThrfsTer?)
c.1524del (p.Asn509ThrfsTer?)
c.1629del (p.Asn544ThrfsTer?)
n.739del
c.1056del (p.Asn353ThrfsTer?)
c.1713del (p.Asn572ThrfsTer?)
c.1641del (p.Asn548ThrfsTer?)
c.1590del (p.Asn531ThrfsTer?)
c.1506del (p.Asn503ThrfsTer?)
c.1233del (p.Asn412ThrfsTer?)
c.2019del (p.Asn674ThrfsTer?)
c.2010del (p.Asn671ThrfsTer?)
c.2007del (p.Asn670ThrfsTer?)
c.1710del (p.Asn571ThrfsTer?)
c.1221del (p.Asn408ThrfsTer?)
c.1701del (p.Asn568ThrfsTer?)
c.1626del (p.Asn543ThrfsTer?)
c.1587del (p.Asn530ThrfsTer?)
c.1500del (p.Asn501ThrfsTer?)
c.1494del (p.Asn499ThrfsTer?)
c.1323del (p.Asn442ThrfsTer?)
c.1479del (p.Asn494ThrfsTer?)
c.1647del (p.Asn550ThrfsTer?)
 ClinVar dbSNP
18g.55229011G>ACA402528948TCF4c.1715C>T (p.Ala572Val)
c.1595C>T (p.Ala532Val)
n.1395C>T
c.1643C>T (p.Ala548Val)
c.*1423C>T (n.*1423C>T)
c.1325C>T (p.Ala442Val)
c.*1593C>T (n.*1593C>T)
c.1067C>T (p.Ala356Val)
n.1770C>T
n.1409C>T
c.1313C>T
c.1742C>T (p.Ala581Val)
c.*1326C>T (n.*1326C>T)
c.1703C>T (p.Ala568Val)
c.2021C>T (p.Ala674Val)
c.1235C>T (p.Ala412Val)
c.1313C>T (p.Ala438Val)
c.1631C>T (p.Ala544Val)
c.1577C>T (p.Ala526Val)
c.1502C>T (p.Ala501Val)
c.1223C>T (p.Ala408Val)
n.5238C>T
c.1490C>T (p.Ala497Val)
c.1733C>T (p.Ala578Val)
c.1451C>T (p.Ala484Val)
c.1535C>T (p.Ala512Val)
c.1694C>T (p.Ala565Val)
c.1523C>T (p.Ala508Val)
c.1628C>T (p.Ala543Val)
n.738C>T
c.1055C>T (p.Ala352Val)
c.1712C>T (p.Ala571Val)
c.1640C>T (p.Ala547Val)
c.1589C>T (p.Ala530Val)
c.1505C>T (p.Ala502Val)
c.1232C>T (p.Ala411Val)
c.2018C>T (p.Ala673Val)
c.2009C>T (p.Ala670Val)
c.2006C>T (p.Ala669Val)
c.1709C>T (p.Ala570Val)
c.1220C>T (p.Ala407Val)
c.1700C>T (p.Ala567Val)
c.1625C>T (p.Ala542Val)
c.1586C>T (p.Ala529Val)
c.1499C>T (p.Ala500Val)
c.1493C>T (p.Ala498Val)
c.1322C>T (p.Ala441Val)
c.1478C>T (p.Ala493Val)
c.1646C>T (p.Ala549Val)
18g.55229011G>CCA402528949TCF4c.1715C>G (p.Ala572Gly)
c.1595C>G (p.Ala532Gly)
n.1395C>G
c.1643C>G (p.Ala548Gly)
c.*1423C>G (n.*1423C>G)
c.1325C>G (p.Ala442Gly)
c.*1593C>G (n.*1593C>G)
c.1067C>G (p.Ala356Gly)
n.1770C>G
n.1409C>G
c.1313C>G
c.1742C>G (p.Ala581Gly)
c.*1326C>G (n.*1326C>G)
c.1703C>G (p.Ala568Gly)
c.2021C>G (p.Ala674Gly)
c.1235C>G (p.Ala412Gly)
c.1313C>G (p.Ala438Gly)
c.1631C>G (p.Ala544Gly)
c.1577C>G (p.Ala526Gly)
c.1502C>G (p.Ala501Gly)
c.1223C>G (p.Ala408Gly)
n.5238C>G
c.1490C>G (p.Ala497Gly)
c.1733C>G (p.Ala578Gly)
c.1451C>G (p.Ala484Gly)
c.1535C>G (p.Ala512Gly)
c.1694C>G (p.Ala565Gly)
c.1523C>G (p.Ala508Gly)
c.1628C>G (p.Ala543Gly)
n.738C>G
c.1055C>G (p.Ala352Gly)
c.1712C>G (p.Ala571Gly)
c.1640C>G (p.Ala547Gly)
c.1589C>G (p.Ala530Gly)
c.1505C>G (p.Ala502Gly)
c.1232C>G (p.Ala411Gly)
c.2018C>G (p.Ala673Gly)
c.2009C>G (p.Ala670Gly)
c.2006C>G (p.Ala669Gly)
c.1709C>G (p.Ala570Gly)
c.1220C>G (p.Ala407Gly)
c.1700C>G (p.Ala567Gly)
c.1625C>G (p.Ala542Gly)
c.1586C>G (p.Ala529Gly)
c.1499C>G (p.Ala500Gly)
c.1493C>G (p.Ala498Gly)
c.1322C>G (p.Ala441Gly)
c.1478C>G (p.Ala493Gly)
c.1646C>G (p.Ala549Gly)
18g.55229011G>TCA402528947TCF4c.1715C>A (p.Ala572Asp)
c.1595C>A (p.Ala532Asp)
n.1395C>A
c.1643C>A (p.Ala548Asp)
c.*1423C>A (n.*1423C>A)
c.1325C>A (p.Ala442Asp)
c.*1593C>A (n.*1593C>A)
c.1067C>A (p.Ala356Asp)
n.1770C>A
n.1409C>A
c.1313C>A
c.1742C>A (p.Ala581Asp)
c.*1326C>A (n.*1326C>A)
c.1703C>A (p.Ala568Asp)
c.2021C>A (p.Ala674Asp)
c.1235C>A (p.Ala412Asp)
c.1313C>A (p.Ala438Asp)
c.1631C>A (p.Ala544Asp)
c.1577C>A (p.Ala526Asp)
c.1502C>A (p.Ala501Asp)
c.1223C>A (p.Ala408Asp)
n.5238C>A
c.1490C>A (p.Ala497Asp)
c.1733C>A (p.Ala578Asp)
c.1451C>A (p.Ala484Asp)
c.1535C>A (p.Ala512Asp)
c.1694C>A (p.Ala565Asp)
c.1523C>A (p.Ala508Asp)
c.1628C>A (p.Ala543Asp)
n.738C>A
c.1055C>A (p.Ala352Asp)
c.1712C>A (p.Ala571Asp)
c.1640C>A (p.Ala547Asp)
c.1589C>A (p.Ala530Asp)
c.1505C>A (p.Ala502Asp)
c.1232C>A (p.Ala411Asp)
c.2018C>A (p.Ala673Asp)
c.2009C>A (p.Ala670Asp)
c.2006C>A (p.Ala669Asp)
c.1709C>A (p.Ala570Asp)
c.1220C>A (p.Ala407Asp)
c.1700C>A (p.Ala567Asp)
c.1625C>A (p.Ala542Asp)
c.1586C>A (p.Ala529Asp)
c.1499C>A (p.Ala500Asp)
c.1493C>A (p.Ala498Asp)
c.1322C>A (p.Ala441Asp)
c.1478C>A (p.Ala493Asp)
c.1646C>A (p.Ala549Asp)
18g.55229012C>ACA402528952TCF4c.1714G>T (p.Ala572Ser)
c.1594G>T (p.Ala532Ser)
n.1394G>T
c.1642G>T (p.Ala548Ser)
c.*1422G>T (n.*1422G>T)
c.1324G>T (p.Ala442Ser)
c.*1592G>T (n.*1592G>T)
c.1066G>T (p.Ala356Ser)
n.1769G>T
n.1408G>T
c.1312G>T
c.1741G>T (p.Ala581Ser)
c.*1325G>T (n.*1325G>T)
c.1702G>T (p.Ala568Ser)
c.2020G>T (p.Ala674Ser)
c.1234G>T (p.Ala412Ser)
c.1312G>T (p.Ala438Ser)
c.1630G>T (p.Ala544Ser)
c.1576G>T (p.Ala526Ser)
c.1501G>T (p.Ala501Ser)
c.1222G>T (p.Ala408Ser)
n.5237G>T
c.1489G>T (p.Ala497Ser)
c.1732G>T (p.Ala578Ser)
c.1450G>T (p.Ala484Ser)
c.1534G>T (p.Ala512Ser)
c.1693G>T (p.Ala565Ser)
c.1522G>T (p.Ala508Ser)
c.1627G>T (p.Ala543Ser)
n.737G>T
c.1054G>T (p.Ala352Ser)
c.1711G>T (p.Ala571Ser)
c.1639G>T (p.Ala547Ser)
c.1588G>T (p.Ala530Ser)
c.1504G>T (p.Ala502Ser)
c.1231G>T (p.Ala411Ser)
c.2017G>T (p.Ala673Ser)
c.2008G>T (p.Ala670Ser)
c.2005G>T (p.Ala669Ser)
c.1708G>T (p.Ala570Ser)
c.1219G>T (p.Ala407Ser)
c.1699G>T (p.Ala567Ser)
c.1624G>T (p.Ala542Ser)
c.1585G>T (p.Ala529Ser)
c.1498G>T (p.Ala500Ser)
c.1492G>T (p.Ala498Ser)
c.1321G>T (p.Ala441Ser)
c.1477G>T (p.Ala493Ser)
c.1645G>T (p.Ala549Ser)
18g.55229012C>GCA402528950TCF4c.1714G>C (p.Ala572Pro)
c.1594G>C (p.Ala532Pro)
n.1394G>C
c.1642G>C (p.Ala548Pro)
c.*1422G>C (n.*1422G>C)
c.1324G>C (p.Ala442Pro)
c.*1592G>C (n.*1592G>C)
c.1066G>C (p.Ala356Pro)
n.1769G>C
n.1408G>C
c.1312G>C
c.1741G>C (p.Ala581Pro)
c.*1325G>C (n.*1325G>C)
c.1702G>C (p.Ala568Pro)
c.2020G>C (p.Ala674Pro)
c.1234G>C (p.Ala412Pro)
c.1312G>C (p.Ala438Pro)
c.1630G>C (p.Ala544Pro)
c.1576G>C (p.Ala526Pro)
c.1501G>C (p.Ala501Pro)
c.1222G>C (p.Ala408Pro)
n.5237G>C
c.1489G>C (p.Ala497Pro)
c.1732G>C (p.Ala578Pro)
c.1450G>C (p.Ala484Pro)
c.1534G>C (p.Ala512Pro)
c.1693G>C (p.Ala565Pro)
c.1522G>C (p.Ala508Pro)
c.1627G>C (p.Ala543Pro)
n.737G>C
c.1054G>C (p.Ala352Pro)
c.1711G>C (p.Ala571Pro)
c.1639G>C (p.Ala547Pro)
c.1588G>C (p.Ala530Pro)
c.1504G>C (p.Ala502Pro)
c.1231G>C (p.Ala411Pro)
c.2017G>C (p.Ala673Pro)
c.2008G>C (p.Ala670Pro)
c.2005G>C (p.Ala669Pro)
c.1708G>C (p.Ala570Pro)
c.1219G>C (p.Ala407Pro)
c.1699G>C (p.Ala567Pro)
c.1624G>C (p.Ala542Pro)
c.1585G>C (p.Ala529Pro)
c.1498G>C (p.Ala500Pro)
c.1492G>C (p.Ala498Pro)
c.1321G>C (p.Ala441Pro)
c.1477G>C (p.Ala493Pro)
c.1645G>C (p.Ala549Pro)
18g.55229012C>TCA402528951TCF4c.1714G>A (p.Ala572Thr)
c.1594G>A (p.Ala532Thr)
n.1394G>A
c.1642G>A (p.Ala548Thr)
c.*1422G>A (n.*1422G>A)
c.1324G>A (p.Ala442Thr)
c.*1592G>A (n.*1592G>A)
c.1066G>A (p.Ala356Thr)
n.1769G>A
n.1408G>A
c.1312G>A
c.1741G>A (p.Ala581Thr)
c.*1325G>A (n.*1325G>A)
c.1702G>A (p.Ala568Thr)
c.2020G>A (p.Ala674Thr)
c.1234G>A (p.Ala412Thr)
c.1312G>A (p.Ala438Thr)
c.1630G>A (p.Ala544Thr)
c.1576G>A (p.Ala526Thr)
c.1501G>A (p.Ala501Thr)
c.1222G>A (p.Ala408Thr)
n.5237G>A
c.1489G>A (p.Ala497Thr)
c.1732G>A (p.Ala578Thr)
c.1450G>A (p.Ala484Thr)
c.1534G>A (p.Ala512Thr)
c.1693G>A (p.Ala565Thr)
c.1522G>A (p.Ala508Thr)
c.1627G>A (p.Ala543Thr)
n.737G>A
c.1054G>A (p.Ala352Thr)
c.1711G>A (p.Ala571Thr)
c.1639G>A (p.Ala547Thr)
c.1588G>A (p.Ala530Thr)
c.1504G>A (p.Ala502Thr)
c.1231G>A (p.Ala411Thr)
c.2017G>A (p.Ala673Thr)
c.2008G>A (p.Ala670Thr)
c.2005G>A (p.Ala669Thr)
c.1708G>A (p.Ala570Thr)
c.1219G>A (p.Ala407Thr)
c.1699G>A (p.Ala567Thr)
c.1624G>A (p.Ala542Thr)
c.1585G>A (p.Ala529Thr)
c.1498G>A (p.Ala500Thr)
c.1492G>A (p.Ala498Thr)
c.1321G>A (p.Ala441Thr)
c.1477G>A (p.Ala493Thr)
c.1645G>A (p.Ala549Thr)
 gnomAD v3 gnomAD v4
18g.55229013C>ACA402528953TCF4c.1713G>T (p.Met571Ile)
c.1593G>T (p.Met531Ile)
n.1393G>T
c.1641G>T (p.Met547Ile)
c.*1421G>T (n.*1421G>T)
c.1323G>T (p.Met441Ile)
c.*1591G>T (n.*1591G>T)
c.1065G>T (p.Met355Ile)
n.1768G>T
n.1407G>T
c.1311G>T
c.1740G>T (p.Met580Ile)
c.*1324G>T (n.*1324G>T)
c.1701G>T (p.Met567Ile)
c.2019G>T (p.Met673Ile)
c.1233G>T (p.Met411Ile)
c.1311G>T (p.Met437Ile)
c.1629G>T (p.Met543Ile)
c.1575G>T (p.Met525Ile)
c.1500G>T (p.Met500Ile)
c.1221G>T (p.Met407Ile)
n.5236G>T
c.1488G>T (p.Met496Ile)
c.1731G>T (p.Met577Ile)
c.1449G>T (p.Met483Ile)
c.1533G>T (p.Met511Ile)
c.1692G>T (p.Met564Ile)
c.1521G>T (p.Met507Ile)
c.1626G>T (p.Met542Ile)
n.736G>T
c.1053G>T (p.Met351Ile)
c.1710G>T (p.Met570Ile)
c.1638G>T (p.Met546Ile)
c.1587G>T (p.Met529Ile)
c.1503G>T (p.Met501Ile)
c.1230G>T (p.Met410Ile)
c.2016G>T (p.Met672Ile)
c.2007G>T (p.Met669Ile)
c.2004G>T (p.Met668Ile)
c.1707G>T (p.Met569Ile)
c.1218G>T (p.Met406Ile)
c.1698G>T (p.Met566Ile)
c.1623G>T (p.Met541Ile)
c.1584G>T (p.Met528Ile)
c.1497G>T (p.Met499Ile)
c.1491G>T (p.Met497Ile)
c.1320G>T (p.Met440Ile)
c.1476G>T (p.Met492Ile)
c.1644G>T (p.Met548Ile)
18g.55229013C>GCA402528954TCF4c.1713G>C (p.Met571Ile)
c.1593G>C (p.Met531Ile)
n.1393G>C
c.1641G>C (p.Met547Ile)
c.*1421G>C (n.*1421G>C)
c.1323G>C (p.Met441Ile)
c.*1591G>C (n.*1591G>C)
c.1065G>C (p.Met355Ile)
n.1768G>C
n.1407G>C
c.1311G>C
c.1740G>C (p.Met580Ile)
c.*1324G>C (n.*1324G>C)
c.1701G>C (p.Met567Ile)
c.2019G>C (p.Met673Ile)
c.1233G>C (p.Met411Ile)
c.1311G>C (p.Met437Ile)
c.1629G>C (p.Met543Ile)
c.1575G>C (p.Met525Ile)
c.1500G>C (p.Met500Ile)
c.1221G>C (p.Met407Ile)
n.5236G>C
c.1488G>C (p.Met496Ile)
c.1731G>C (p.Met577Ile)
c.1449G>C (p.Met483Ile)
c.1533G>C (p.Met511Ile)
c.1692G>C (p.Met564Ile)
c.1521G>C (p.Met507Ile)
c.1626G>C (p.Met542Ile)
n.736G>C
c.1053G>C (p.Met351Ile)
c.1710G>C (p.Met570Ile)
c.1638G>C (p.Met546Ile)
c.1587G>C (p.Met529Ile)
c.1503G>C (p.Met501Ile)
c.1230G>C (p.Met410Ile)
c.2016G>C (p.Met672Ile)
c.2007G>C (p.Met669Ile)
c.2004G>C (p.Met668Ile)
c.1707G>C (p.Met569Ile)
c.1218G>C (p.Met406Ile)
c.1698G>C (p.Met566Ile)
c.1623G>C (p.Met541Ile)
c.1584G>C (p.Met528Ile)
c.1497G>C (p.Met499Ile)
c.1491G>C (p.Met497Ile)
c.1320G>C (p.Met440Ile)
c.1476G>C (p.Met492Ile)
c.1644G>C (p.Met548Ile)
18g.55229013C>TCA402528955TCF4c.1713G>A (p.Met571Ile)
c.1593G>A (p.Met531Ile)
n.1393G>A
c.1641G>A (p.Met547Ile)
c.*1421G>A (n.*1421G>A)
c.1323G>A (p.Met441Ile)
c.*1591G>A (n.*1591G>A)
c.1065G>A (p.Met355Ile)
n.1768G>A
n.1407G>A
c.1311G>A
c.1740G>A (p.Met580Ile)
c.*1324G>A (n.*1324G>A)
c.1701G>A (p.Met567Ile)
c.2019G>A (p.Met673Ile)
c.1233G>A (p.Met411Ile)
c.1311G>A (p.Met437Ile)
c.1629G>A (p.Met543Ile)
c.1575G>A (p.Met525Ile)
c.1500G>A (p.Met500Ile)
c.1221G>A (p.Met407Ile)
n.5236G>A
c.1488G>A (p.Met496Ile)
c.1731G>A (p.Met577Ile)
c.1449G>A (p.Met483Ile)
c.1533G>A (p.Met511Ile)
c.1692G>A (p.Met564Ile)
c.1521G>A (p.Met507Ile)
c.1626G>A (p.Met542Ile)
n.736G>A
c.1053G>A (p.Met351Ile)
c.1710G>A (p.Met570Ile)
c.1638G>A (p.Met546Ile)
c.1587G>A (p.Met529Ile)
c.1503G>A (p.Met501Ile)
c.1230G>A (p.Met410Ile)
c.2016G>A (p.Met672Ile)
c.2007G>A (p.Met669Ile)
c.2004G>A (p.Met668Ile)
c.1707G>A (p.Met569Ile)
c.1218G>A (p.Met406Ile)
c.1698G>A (p.Met566Ile)
c.1623G>A (p.Met541Ile)
c.1584G>A (p.Met528Ile)
c.1497G>A (p.Met499Ile)
c.1491G>A (p.Met497Ile)
c.1320G>A (p.Met440Ile)
c.1476G>A (p.Met492Ile)
c.1644G>A (p.Met548Ile)
18g.55229014A>CCA402528956TCF4c.1712T>G (p.Met571Arg)
c.1592T>G (p.Met531Arg)
n.1392T>G
c.1640T>G (p.Met547Arg)
c.*1420T>G (n.*1420T>G)
c.1322T>G (p.Met441Arg)
c.*1590T>G (n.*1590T>G)
c.1064T>G (p.Met355Arg)
n.1767T>G
n.1406T>G
c.1310T>G
c.1739T>G (p.Met580Arg)
c.*1323T>G (n.*1323T>G)
c.1700T>G (p.Met567Arg)
c.2018T>G (p.Met673Arg)
c.1232T>G (p.Met411Arg)
c.1310T>G (p.Met437Arg)
c.1628T>G (p.Met543Arg)
c.1574T>G (p.Met525Arg)
c.1499T>G (p.Met500Arg)
c.1220T>G (p.Met407Arg)
n.5235T>G
c.1487T>G (p.Met496Arg)
c.1730T>G (p.Met577Arg)
c.1448T>G (p.Met483Arg)
c.1532T>G (p.Met511Arg)
c.1691T>G (p.Met564Arg)
c.1520T>G (p.Met507Arg)
c.1625T>G (p.Met542Arg)
n.735T>G
c.1052T>G (p.Met351Arg)
c.1709T>G (p.Met570Arg)
c.1637T>G (p.Met546Arg)
c.1586T>G (p.Met529Arg)
c.1502T>G (p.Met501Arg)
c.1229T>G (p.Met410Arg)
c.2015T>G (p.Met672Arg)
c.2006T>G (p.Met669Arg)
c.2003T>G (p.Met668Arg)
c.1706T>G (p.Met569Arg)
c.1217T>G (p.Met406Arg)
c.1697T>G (p.Met566Arg)
c.1622T>G (p.Met541Arg)
c.1583T>G (p.Met528Arg)
c.1496T>G (p.Met499Arg)
c.1490T>G (p.Met497Arg)
c.1319T>G (p.Met440Arg)
c.1475T>G (p.Met492Arg)
c.1643T>G (p.Met548Arg)
18g.55229014A>GCA402528957TCF4c.1712T>C (p.Met571Thr)
c.1592T>C (p.Met531Thr)
n.1392T>C
c.1640T>C (p.Met547Thr)
c.*1420T>C (n.*1420T>C)
c.1322T>C (p.Met441Thr)
c.*1590T>C (n.*1590T>C)
c.1064T>C (p.Met355Thr)
n.1767T>C
n.1406T>C
c.1310T>C
c.1739T>C (p.Met580Thr)
c.*1323T>C (n.*1323T>C)
c.1700T>C (p.Met567Thr)
c.2018T>C (p.Met673Thr)
c.1232T>C (p.Met411Thr)
c.1310T>C (p.Met437Thr)
c.1628T>C (p.Met543Thr)
c.1574T>C (p.Met525Thr)
c.1499T>C (p.Met500Thr)
c.1220T>C (p.Met407Thr)
n.5235T>C
c.1487T>C (p.Met496Thr)
c.1730T>C (p.Met577Thr)
c.1448T>C (p.Met483Thr)
c.1532T>C (p.Met511Thr)
c.1691T>C (p.Met564Thr)
c.1520T>C (p.Met507Thr)
c.1625T>C (p.Met542Thr)
n.735T>C
c.1052T>C (p.Met351Thr)
c.1709T>C (p.Met570Thr)
c.1637T>C (p.Met546Thr)
c.1586T>C (p.Met529Thr)
c.1502T>C (p.Met501Thr)
c.1229T>C (p.Met410Thr)
c.2015T>C (p.Met672Thr)
c.2006T>C (p.Met669Thr)
c.2003T>C (p.Met668Thr)
c.1706T>C (p.Met569Thr)
c.1217T>C (p.Met406Thr)
c.1697T>C (p.Met566Thr)
c.1622T>C (p.Met541Thr)
c.1583T>C (p.Met528Thr)
c.1496T>C (p.Met499Thr)
c.1490T>C (p.Met497Thr)
c.1319T>C (p.Met440Thr)
c.1475T>C (p.Met492Thr)
c.1643T>C (p.Met548Thr)
18g.55229014A>TCA402528959TCF4c.1712T>A (p.Met571Lys)
c.1592T>A (p.Met531Lys)
n.1392T>A
c.1640T>A (p.Met547Lys)
c.*1420T>A (n.*1420T>A)
c.1322T>A (p.Met441Lys)
c.*1590T>A (n.*1590T>A)
c.1064T>A (p.Met355Lys)
n.1767T>A
n.1406T>A
c.1310T>A
c.1739T>A (p.Met580Lys)
c.*1323T>A (n.*1323T>A)
c.1700T>A (p.Met567Lys)
c.2018T>A (p.Met673Lys)
c.1232T>A (p.Met411Lys)
c.1310T>A (p.Met437Lys)
c.1628T>A (p.Met543Lys)
c.1574T>A (p.Met525Lys)
c.1499T>A (p.Met500Lys)
c.1220T>A (p.Met407Lys)
n.5235T>A
c.1487T>A (p.Met496Lys)
c.1730T>A (p.Met577Lys)
c.1448T>A (p.Met483Lys)
c.1532T>A (p.Met511Lys)
c.1691T>A (p.Met564Lys)
c.1520T>A (p.Met507Lys)
c.1625T>A (p.Met542Lys)
n.735T>A
c.1052T>A (p.Met351Lys)
c.1709T>A (p.Met570Lys)
c.1637T>A (p.Met546Lys)
c.1586T>A (p.Met529Lys)
c.1502T>A (p.Met501Lys)
c.1229T>A (p.Met410Lys)
c.2015T>A (p.Met672Lys)
c.2006T>A (p.Met669Lys)
c.2003T>A (p.Met668Lys)
c.1706T>A (p.Met569Lys)
c.1217T>A (p.Met406Lys)
c.1697T>A (p.Met566Lys)
c.1622T>A (p.Met541Lys)
c.1583T>A (p.Met528Lys)
c.1496T>A (p.Met499Lys)
c.1490T>A (p.Met497Lys)
c.1319T>A (p.Met440Lys)
c.1475T>A (p.Met492Lys)
c.1643T>A (p.Met548Lys)
18g.55229014_55229015delinsATCA2305004861TCF4c.1711_1712delinsAT (p.Met571=)
c.1591_1592delinsAT (p.Met531=)
n.1391_1392delinsAT
c.1639_1640delinsAT (p.Met547=)
c.*1419_*1420delinsAT (n.*1419_*1420delinsAT)
c.1321_1322delinsAT (p.Met441=)
c.*1589_*1590delinsAT (n.*1589_*1590delinsAT)
c.1063_1064delinsAT (p.Met355=)
n.1766_1767delinsAT
n.1405_1406delinsAT
c.1309_1310delinsAT
c.1738_1739delinsAT (p.Met580=)
c.*1322_*1323delinsAT (n.*1322_*1323delinsAT)
c.1699_1700delinsAT (p.Met567=)
c.2017_2018delinsAT (p.Met673=)
c.1231_1232delinsAT (p.Met411=)
c.1309_1310delinsAT (p.Met437=)
c.1627_1628delinsAT (p.Met543=)
c.1573_1574delinsAT (p.Met525=)
c.1498_1499delinsAT (p.Met500=)
c.1219_1220delinsAT (p.Met407=)
n.5234_5235delinsAT
c.1486_1487delinsAT (p.Met496=)
c.1729_1730delinsAT (p.Met577=)
c.1447_1448delinsAT (p.Met483=)
c.1531_1532delinsAT (p.Met511=)
c.1690_1691delinsAT (p.Met564=)
c.1519_1520delinsAT (p.Met507=)
c.1624_1625delinsAT (p.Met542=)
n.734_735delinsAT
c.1051_1052delinsAT (p.Met351=)
c.1708_1709delinsAT (p.Met570=)
c.1636_1637delinsAT (p.Met546=)
c.1585_1586delinsAT (p.Met529=)
c.1501_1502delinsAT (p.Met501=)
c.1228_1229delinsAT (p.Met410=)
c.2014_2015delinsAT (p.Met672=)
c.2005_2006delinsAT (p.Met669=)
c.2002_2003delinsAT (p.Met668=)
c.1705_1706delinsAT (p.Met569=)
c.1216_1217delinsAT (p.Met406=)
c.1696_1697delinsAT (p.Met566=)
c.1621_1622delinsAT (p.Met541=)
c.1582_1583delinsAT (p.Met528=)
c.1495_1496delinsAT (p.Met499=)
c.1489_1490delinsAT (p.Met497=)
c.1318_1319delinsAT (p.Met440=)
c.1474_1475delinsAT (p.Met492=)
c.1642_1643delinsAT (p.Met548=)
18g.55229015delCA658799068TCF4c.1711del (p.Met571TrpfsTer?)
c.1591del (p.Met531TrpfsTer?)
n.1391del
c.1639del (p.Met547TrpfsTer?)
c.*1419del (n.*1419del)
c.1321del (p.Met441TrpfsTer?)
c.*1589del (n.*1589del)
c.1063del (p.Met355TrpfsTer?)
n.1766del
n.1405del
c.1309del
c.1738del (p.Met580TrpfsTer?)
c.*1322del (n.*1322del)
c.1699del (p.Met567TrpfsTer?)
c.2017del (p.Met673TrpfsTer?)
c.1231del (p.Met411TrpfsTer?)
c.1309del (p.Met437TrpfsTer?)
c.1627del (p.Met543TrpfsTer?)
c.1573del (p.Met525TrpfsTer?)
c.1498del (p.Met500TrpfsTer?)
c.1219del (p.Met407TrpfsTer?)
n.5234del
c.1486del (p.Met496TrpfsTer?)
c.1729del (p.Met577TrpfsTer?)
c.1447del (p.Met483TrpfsTer?)
c.1531del (p.Met511TrpfsTer?)
c.1690del (p.Met564TrpfsTer?)
c.1519del (p.Met507TrpfsTer?)
c.1624del (p.Met542TrpfsTer?)
n.734del
c.1051del (p.Met351TrpfsTer?)
c.1708del (p.Met570TrpfsTer?)
c.1636del (p.Met546TrpfsTer?)
c.1585del (p.Met529TrpfsTer?)
c.1501del (p.Met501TrpfsTer?)
c.1228del (p.Met410TrpfsTer?)
c.2014del (p.Met672TrpfsTer?)
c.2005del (p.Met669TrpfsTer?)
c.2002del (p.Met668TrpfsTer?)
c.1705del (p.Met569TrpfsTer?)
c.1216del (p.Met406TrpfsTer?)
c.1696del (p.Met566TrpfsTer?)
c.1621del (p.Met541TrpfsTer?)
c.1582del (p.Met528TrpfsTer?)
c.1495del (p.Met499TrpfsTer?)
c.1489del (p.Met497TrpfsTer?)
c.1318del (p.Met440TrpfsTer?)
c.1474del (p.Met492TrpfsTer?)
c.1642del (p.Met548TrpfsTer?)
 ClinVar dbSNP
18g.55229015T>ACA402528965TCF4c.1711A>T (p.Met571Leu)
c.1591A>T (p.Met531Leu)
n.1391A>T
c.1639A>T (p.Met547Leu)
c.*1419A>T (n.*1419A>T)
c.1321A>T (p.Met441Leu)
c.*1589A>T (n.*1589A>T)
c.1063A>T (p.Met355Leu)
n.1766A>T
n.1405A>T
c.1309A>T
c.1738A>T (p.Met580Leu)
c.*1322A>T (n.*1322A>T)
c.1699A>T (p.Met567Leu)
c.2017A>T (p.Met673Leu)
c.1231A>T (p.Met411Leu)
c.1309A>T (p.Met437Leu)
c.1627A>T (p.Met543Leu)
c.1573A>T (p.Met525Leu)
c.1498A>T (p.Met500Leu)
c.1219A>T (p.Met407Leu)
n.5234A>T
c.1486A>T (p.Met496Leu)
c.1729A>T (p.Met577Leu)
c.1447A>T (p.Met483Leu)
c.1531A>T (p.Met511Leu)
c.1690A>T (p.Met564Leu)
c.1519A>T (p.Met507Leu)
c.1624A>T (p.Met542Leu)
n.734A>T
c.1051A>T (p.Met351Leu)
c.1708A>T (p.Met570Leu)
c.1636A>T (p.Met546Leu)
c.1585A>T (p.Met529Leu)
c.1501A>T (p.Met501Leu)
c.1228A>T (p.Met410Leu)
c.2014A>T (p.Met672Leu)
c.2005A>T (p.Met669Leu)
c.2002A>T (p.Met668Leu)
c.1705A>T (p.Met569Leu)
c.1216A>T (p.Met406Leu)
c.1696A>T (p.Met566Leu)
c.1621A>T (p.Met541Leu)
c.1582A>T (p.Met528Leu)
c.1495A>T (p.Met499Leu)
c.1489A>T (p.Met497Leu)
c.1318A>T (p.Met440Leu)
c.1474A>T (p.Met492Leu)
c.1642A>T (p.Met548Leu)
18g.55229015T>CCA402528967TCF4c.1711A>G (p.Met571Val)
c.1591A>G (p.Met531Val)
n.1391A>G
c.1639A>G (p.Met547Val)
c.*1419A>G (n.*1419A>G)
c.1321A>G (p.Met441Val)
c.*1589A>G (n.*1589A>G)
c.1063A>G (p.Met355Val)
n.1766A>G
n.1405A>G
c.1309A>G
c.1738A>G (p.Met580Val)
c.*1322A>G (n.*1322A>G)
c.1699A>G (p.Met567Val)
c.2017A>G (p.Met673Val)
c.1231A>G (p.Met411Val)
c.1309A>G (p.Met437Val)
c.1627A>G (p.Met543Val)
c.1573A>G (p.Met525Val)
c.1498A>G (p.Met500Val)
c.1219A>G (p.Met407Val)
n.5234A>G
c.1486A>G (p.Met496Val)
c.1729A>G (p.Met577Val)
c.1447A>G (p.Met483Val)
c.1531A>G (p.Met511Val)
c.1690A>G (p.Met564Val)
c.1519A>G (p.Met507Val)
c.1624A>G (p.Met542Val)
n.734A>G
c.1051A>G (p.Met351Val)
c.1708A>G (p.Met570Val)
c.1636A>G (p.Met546Val)
c.1585A>G (p.Met529Val)
c.1501A>G (p.Met501Val)
c.1228A>G (p.Met410Val)
c.2014A>G (p.Met672Val)
c.2005A>G (p.Met669Val)
c.2002A>G (p.Met668Val)
c.1705A>G (p.Met569Val)
c.1216A>G (p.Met406Val)
c.1696A>G (p.Met566Val)
c.1621A>G (p.Met541Val)
c.1582A>G (p.Met528Val)
c.1495A>G (p.Met499Val)
c.1489A>G (p.Met497Val)
c.1318A>G (p.Met440Val)
c.1474A>G (p.Met492Val)
c.1642A>G (p.Met548Val)
18g.55229015T>GCA402528969TCF4c.1711A>C (p.Met571Leu)
c.1591A>C (p.Met531Leu)
n.1391A>C
c.1639A>C (p.Met547Leu)
c.*1419A>C (n.*1419A>C)
c.1321A>C (p.Met441Leu)
c.*1589A>C (n.*1589A>C)
c.1063A>C (p.Met355Leu)
n.1766A>C
n.1405A>C
c.1309A>C
c.1738A>C (p.Met580Leu)
c.*1322A>C (n.*1322A>C)
c.1699A>C (p.Met567Leu)
c.2017A>C (p.Met673Leu)
c.1231A>C (p.Met411Leu)
c.1309A>C (p.Met437Leu)
c.1627A>C (p.Met543Leu)
c.1573A>C (p.Met525Leu)
c.1498A>C (p.Met500Leu)
c.1219A>C (p.Met407Leu)
n.5234A>C
c.1486A>C (p.Met496Leu)
c.1729A>C (p.Met577Leu)
c.1447A>C (p.Met483Leu)
c.1531A>C (p.Met511Leu)
c.1690A>C (p.Met564Leu)
c.1519A>C (p.Met507Leu)
c.1624A>C (p.Met542Leu)
n.734A>C
c.1051A>C (p.Met351Leu)
c.1708A>C (p.Met570Leu)
c.1636A>C (p.Met546Leu)
c.1585A>C (p.Met529Leu)
c.1501A>C (p.Met501Leu)
c.1228A>C (p.Met410Leu)
c.2014A>C (p.Met672Leu)
c.2005A>C (p.Met669Leu)
c.2002A>C (p.Met668Leu)
c.1705A>C (p.Met569Leu)
c.1216A>C (p.Met406Leu)
c.1696A>C (p.Met566Leu)
c.1621A>C (p.Met541Leu)
c.1582A>C (p.Met528Leu)
c.1495A>C (p.Met499Leu)
c.1489A>C (p.Met497Leu)
c.1318A>C (p.Met440Leu)
c.1474A>C (p.Met492Leu)
c.1642A>C (p.Met548Leu)
18g.55229016C>ACA402528971TCF4c.1710G>T (p.Arg570Ser)
c.1590G>T (p.Arg530Ser)
n.1390G>T
c.1638G>T (p.Arg546Ser)
c.*1418G>T (n.*1418G>T)
c.1320G>T (p.Arg440Ser)
c.*1588G>T (n.*1588G>T)
c.1062G>T (p.Arg354Ser)
n.1765G>T
n.1404G>T
c.1308G>T
c.1737G>T (p.Arg579Ser)
c.*1321G>T (n.*1321G>T)
c.1698G>T (p.Arg566Ser)
c.2016G>T (p.Arg672Ser)
c.1230G>T (p.Arg410Ser)
c.1308G>T (p.Arg436Ser)
c.1626G>T (p.Arg542Ser)
c.1572G>T (p.Arg524Ser)
c.1497G>T (p.Arg499Ser)
c.1218G>T (p.Arg406Ser)
n.5233G>T
c.1485G>T (p.Arg495Ser)
c.1728G>T (p.Arg576Ser)
c.1446G>T (p.Arg482Ser)
c.1530G>T (p.Arg510Ser)
c.1689G>T (p.Arg563Ser)
c.1518G>T (p.Arg506Ser)
c.1623G>T (p.Arg541Ser)
n.733G>T
c.1050G>T (p.Arg350Ser)
c.1707G>T (p.Arg569Ser)
c.1635G>T (p.Arg545Ser)
c.1584G>T (p.Arg528Ser)
c.1500G>T (p.Arg500Ser)
c.1227G>T (p.Arg409Ser)
c.2013G>T (p.Arg671Ser)
c.2004G>T (p.Arg668Ser)
c.2001G>T (p.Arg667Ser)
c.1704G>T (p.Arg568Ser)
c.1215G>T (p.Arg405Ser)
c.1695G>T (p.Arg565Ser)
c.1620G>T (p.Arg540Ser)
c.1581G>T (p.Arg527Ser)
c.1494G>T (p.Arg498Ser)
c.1488G>T (p.Arg496Ser)
c.1317G>T (p.Arg439Ser)
c.1473G>T (p.Arg491Ser)
c.1641G>T (p.Arg547Ser)
18g.55229016C=CA2305004862TCF4c.1710G= (p.Arg570=)
c.1590G= (p.Arg530=)
n.1390G=
c.1638G= (p.Arg546=)
c.*1418G= (n.*1418G=)
c.1320G= (p.Arg440=)
c.*1588G= (n.*1588G=)
c.1062G= (p.Arg354=)
n.1765G=
n.1404G=
c.1308G=
c.1737G= (p.Arg579=)
c.*1321G= (n.*1321G=)
c.1698G= (p.Arg566=)
c.2016G= (p.Arg672=)
c.1230G= (p.Arg410=)
c.1308G= (p.Arg436=)
c.1626G= (p.Arg542=)
c.1572G= (p.Arg524=)
c.1497G= (p.Arg499=)
c.1218G= (p.Arg406=)
n.5233G=
c.1485G= (p.Arg495=)
c.1728G= (p.Arg576=)
c.1446G= (p.Arg482=)
c.1530G= (p.Arg510=)
c.1689G= (p.Arg563=)
c.1518G= (p.Arg506=)
c.1623G= (p.Arg541=)
n.733G=
c.1050G= (p.Arg350=)
c.1707G= (p.Arg569=)
c.1635G= (p.Arg545=)
c.1584G= (p.Arg528=)
c.1500G= (p.Arg500=)
c.1227G= (p.Arg409=)
c.2013G= (p.Arg671=)
c.2004G= (p.Arg668=)
c.2001G= (p.Arg667=)
c.1704G= (p.Arg568=)
c.1215G= (p.Arg405=)
c.1695G= (p.Arg565=)
c.1620G= (p.Arg540=)
c.1581G= (p.Arg527=)
c.1494G= (p.Arg498=)
c.1488G= (p.Arg496=)
c.1317G= (p.Arg439=)
c.1473G= (p.Arg491=)
c.1641G= (p.Arg547=)
18g.55229016C>GCA402528974TCF4c.1710G>C (p.Arg570Ser)
c.1590G>C (p.Arg530Ser)
n.1390G>C
c.1638G>C (p.Arg546Ser)
c.*1418G>C (n.*1418G>C)
c.1320G>C (p.Arg440Ser)
c.*1588G>C (n.*1588G>C)
c.1062G>C (p.Arg354Ser)
n.1765G>C
n.1404G>C
c.1308G>C
c.1737G>C (p.Arg579Ser)
c.*1321G>C (n.*1321G>C)
c.1698G>C (p.Arg566Ser)
c.2016G>C (p.Arg672Ser)
c.1230G>C (p.Arg410Ser)
c.1308G>C (p.Arg436Ser)
c.1626G>C (p.Arg542Ser)
c.1572G>C (p.Arg524Ser)
c.1497G>C (p.Arg499Ser)
c.1218G>C (p.Arg406Ser)
n.5233G>C
c.1485G>C (p.Arg495Ser)
c.1728G>C (p.Arg576Ser)
c.1446G>C (p.Arg482Ser)
c.1530G>C (p.Arg510Ser)
c.1689G>C (p.Arg563Ser)
c.1518G>C (p.Arg506Ser)
c.1623G>C (p.Arg541Ser)
n.733G>C
c.1050G>C (p.Arg350Ser)
c.1707G>C (p.Arg569Ser)
c.1635G>C (p.Arg545Ser)
c.1584G>C (p.Arg528Ser)
c.1500G>C (p.Arg500Ser)
c.1227G>C (p.Arg409Ser)
c.2013G>C (p.Arg671Ser)
c.2004G>C (p.Arg668Ser)
c.2001G>C (p.Arg667Ser)
c.1704G>C (p.Arg568Ser)
c.1215G>C (p.Arg405Ser)
c.1695G>C (p.Arg565Ser)
c.1620G>C (p.Arg540Ser)
c.1581G>C (p.Arg527Ser)
c.1494G>C (p.Arg498Ser)
c.1488G>C (p.Arg496Ser)
c.1317G>C (p.Arg439Ser)
c.1473G>C (p.Arg491Ser)
c.1641G>C (p.Arg547Ser)
 ClinVar dbSNP
18g.55229016C>TCA504003101TCF4c.1710G>A (p.Arg570=)
c.1590G>A (p.Arg530=)
n.1390G>A
c.1638G>A (p.Arg546=)
c.*1418G>A (n.*1418G>A)
c.1320G>A (p.Arg440=)
c.*1588G>A (n.*1588G>A)
c.1062G>A (p.Arg354=)
n.1765G>A
n.1404G>A
c.1308G>A
c.1737G>A (p.Arg579=)
c.*1321G>A (n.*1321G>A)
c.1698G>A (p.Arg566=)
c.2016G>A (p.Arg672=)
c.1230G>A (p.Arg410=)
c.1308G>A (p.Arg436=)
c.1626G>A (p.Arg542=)
c.1572G>A (p.Arg524=)
c.1497G>A (p.Arg499=)
c.1218G>A (p.Arg406=)
n.5233G>A
c.1485G>A (p.Arg495=)
c.1728G>A (p.Arg576=)
c.1446G>A (p.Arg482=)
c.1530G>A (p.Arg510=)
c.1689G>A (p.Arg563=)
c.1518G>A (p.Arg506=)
c.1623G>A (p.Arg541=)
n.733G>A
c.1050G>A (p.Arg350=)
c.1707G>A (p.Arg569=)
c.1635G>A (p.Arg545=)
c.1584G>A (p.Arg528=)
c.1500G>A (p.Arg500=)
c.1227G>A (p.Arg409=)
c.2013G>A (p.Arg671=)
c.2004G>A (p.Arg668=)
c.2001G>A (p.Arg667=)
c.1704G>A (p.Arg568=)
c.1215G>A (p.Arg405=)
c.1695G>A (p.Arg565=)
c.1620G>A (p.Arg540=)
c.1581G>A (p.Arg527=)
c.1494G>A (p.Arg498=)
c.1488G>A (p.Arg496=)
c.1317G>A (p.Arg439=)
c.1473G>A (p.Arg491=)
c.1641G>A (p.Arg547=)
18g.55229017C>ACA402528976TCF4c.1709G>T (p.Arg570Met)
c.1589G>T (p.Arg530Met)
n.1389G>T
c.1637G>T (p.Arg546Met)
c.*1417G>T (n.*1417G>T)
c.1319G>T (p.Arg440Met)
c.*1587G>T (n.*1587G>T)
c.1061G>T (p.Arg354Met)
n.1764G>T
n.1403G>T
c.1307G>T
c.1736G>T (p.Arg579Met)
c.*1320G>T (n.*1320G>T)
c.1697G>T (p.Arg566Met)
c.2015G>T (p.Arg672Met)
c.1229G>T (p.Arg410Met)
c.1307G>T (p.Arg436Met)
c.1625G>T (p.Arg542Met)
c.1571G>T (p.Arg524Met)
c.1496G>T (p.Arg499Met)
c.1217G>T (p.Arg406Met)
n.5232G>T
c.1484G>T (p.Arg495Met)
c.1727G>T (p.Arg576Met)
c.1445G>T (p.Arg482Met)
c.1529G>T (p.Arg510Met)
c.1688G>T (p.Arg563Met)
c.1517G>T (p.Arg506Met)
c.1622G>T (p.Arg541Met)
n.732G>T
c.1049G>T (p.Arg350Met)
c.1706G>T (p.Arg569Met)
c.1634G>T (p.Arg545Met)
c.1583G>T (p.Arg528Met)
c.1499G>T (p.Arg500Met)
c.1226G>T (p.Arg409Met)
c.2012G>T (p.Arg671Met)
c.2003G>T (p.Arg668Met)
c.2000G>T (p.Arg667Met)
c.1703G>T (p.Arg568Met)
c.1214G>T (p.Arg405Met)
c.1694G>T (p.Arg565Met)
c.1619G>T (p.Arg540Met)
c.1580G>T (p.Arg527Met)
c.1493G>T (p.Arg498Met)
c.1487G>T (p.Arg496Met)
c.1316G>T (p.Arg439Met)
c.1472G>T (p.Arg491Met)
c.1640G>T (p.Arg547Met)
 COSMIC COSMIC COSMIC
18g.55229017C>GCA402528980TCF4c.1709G>C (p.Arg570Thr)
c.1589G>C (p.Arg530Thr)
n.1389G>C
c.1637G>C (p.Arg546Thr)
c.*1417G>C (n.*1417G>C)
c.1319G>C (p.Arg440Thr)
c.*1587G>C (n.*1587G>C)
c.1061G>C (p.Arg354Thr)
n.1764G>C
n.1403G>C
c.1307G>C
c.1736G>C (p.Arg579Thr)
c.*1320G>C (n.*1320G>C)
c.1697G>C (p.Arg566Thr)
c.2015G>C (p.Arg672Thr)
c.1229G>C (p.Arg410Thr)
c.1307G>C (p.Arg436Thr)
c.1625G>C (p.Arg542Thr)
c.1571G>C (p.Arg524Thr)
c.1496G>C (p.Arg499Thr)
c.1217G>C (p.Arg406Thr)
n.5232G>C
c.1484G>C (p.Arg495Thr)
c.1727G>C (p.Arg576Thr)
c.1445G>C (p.Arg482Thr)
c.1529G>C (p.Arg510Thr)
c.1688G>C (p.Arg563Thr)
c.1517G>C (p.Arg506Thr)
c.1622G>C (p.Arg541Thr)
n.732G>C
c.1049G>C (p.Arg350Thr)
c.1706G>C (p.Arg569Thr)
c.1634G>C (p.Arg545Thr)
c.1583G>C (p.Arg528Thr)
c.1499G>C (p.Arg500Thr)
c.1226G>C (p.Arg409Thr)
c.2012G>C (p.Arg671Thr)
c.2003G>C (p.Arg668Thr)
c.2000G>C (p.Arg667Thr)
c.1703G>C (p.Arg568Thr)
c.1214G>C (p.Arg405Thr)
c.1694G>C (p.Arg565Thr)
c.1619G>C (p.Arg540Thr)
c.1580G>C (p.Arg527Thr)
c.1493G>C (p.Arg498Thr)
c.1487G>C (p.Arg496Thr)
c.1316G>C (p.Arg439Thr)
c.1472G>C (p.Arg491Thr)
c.1640G>C (p.Arg547Thr)
18g.55229017C>TCA402528978TCF4c.1709G>A (p.Arg570Lys)
c.1589G>A (p.Arg530Lys)
n.1389G>A
c.1637G>A (p.Arg546Lys)
c.*1417G>A (n.*1417G>A)
c.1319G>A (p.Arg440Lys)
c.*1587G>A (n.*1587G>A)
c.1061G>A (p.Arg354Lys)
n.1764G>A
n.1403G>A
c.1307G>A
c.1736G>A (p.Arg579Lys)
c.*1320G>A (n.*1320G>A)
c.1697G>A (p.Arg566Lys)
c.2015G>A (p.Arg672Lys)
c.1229G>A (p.Arg410Lys)
c.1307G>A (p.Arg436Lys)
c.1625G>A (p.Arg542Lys)
c.1571G>A (p.Arg524Lys)
c.1496G>A (p.Arg499Lys)
c.1217G>A (p.Arg406Lys)
n.5232G>A
c.1484G>A (p.Arg495Lys)
c.1727G>A (p.Arg576Lys)
c.1445G>A (p.Arg482Lys)
c.1529G>A (p.Arg510Lys)
c.1688G>A (p.Arg563Lys)
c.1517G>A (p.Arg506Lys)
c.1622G>A (p.Arg541Lys)
n.732G>A
c.1049G>A (p.Arg350Lys)
c.1706G>A (p.Arg569Lys)
c.1634G>A (p.Arg545Lys)
c.1583G>A (p.Arg528Lys)
c.1499G>A (p.Arg500Lys)
c.1226G>A (p.Arg409Lys)
c.2012G>A (p.Arg671Lys)
c.2003G>A (p.Arg668Lys)
c.2000G>A (p.Arg667Lys)
c.1703G>A (p.Arg568Lys)
c.1214G>A (p.Arg405Lys)
c.1694G>A (p.Arg565Lys)
c.1619G>A (p.Arg540Lys)
c.1580G>A (p.Arg527Lys)
c.1493G>A (p.Arg498Lys)
c.1487G>A (p.Arg496Lys)
c.1316G>A (p.Arg439Lys)
c.1472G>A (p.Arg491Lys)
c.1640G>A (p.Arg547Lys)
18g.55229018T>ACA402528982TCF4c.1708A>T (p.Arg570Trp)
c.1588A>T (p.Arg530Trp)
n.1388A>T
c.1636A>T (p.Arg546Trp)
c.*1416A>T (n.*1416A>T)
c.1318A>T (p.Arg440Trp)
c.*1586A>T (n.*1586A>T)
c.1060A>T (p.Arg354Trp)
n.1763A>T
n.1402A>T
c.1306A>T
c.1735A>T (p.Arg579Trp)
c.*1319A>T (n.*1319A>T)
c.1696A>T (p.Arg566Trp)
c.2014A>T (p.Arg672Trp)
c.1228A>T (p.Arg410Trp)
c.1306A>T (p.Arg436Trp)
c.1624A>T (p.Arg542Trp)
c.1570A>T (p.Arg524Trp)
c.1495A>T (p.Arg499Trp)
c.1216A>T (p.Arg406Trp)
n.5231A>T
c.1483A>T (p.Arg495Trp)
c.1726A>T (p.Arg576Trp)
c.1444A>T (p.Arg482Trp)
c.1528A>T (p.Arg510Trp)
c.1687A>T (p.Arg563Trp)
c.1516A>T (p.Arg506Trp)
c.1621A>T (p.Arg541Trp)
n.731A>T
c.1048A>T (p.Arg350Trp)
c.1705A>T (p.Arg569Trp)
c.1633A>T (p.Arg545Trp)
c.1582A>T (p.Arg528Trp)
c.1498A>T (p.Arg500Trp)
c.1225A>T (p.Arg409Trp)
c.2011A>T (p.Arg671Trp)
c.2002A>T (p.Arg668Trp)
c.1999A>T (p.Arg667Trp)
c.1702A>T (p.Arg568Trp)
c.1213A>T (p.Arg405Trp)
c.1693A>T (p.Arg565Trp)
c.1618A>T (p.Arg540Trp)
c.1579A>T (p.Arg527Trp)
c.1492A>T (p.Arg498Trp)
c.1486A>T (p.Arg496Trp)
c.1315A>T (p.Arg439Trp)
c.1471A>T (p.Arg491Trp)
c.1639A>T (p.Arg547Trp)
18g.55229018T>CCA402528985TCF4c.1708A>G (p.Arg570Gly)
c.1588A>G (p.Arg530Gly)
n.1388A>G
c.1636A>G (p.Arg546Gly)
c.*1416A>G (n.*1416A>G)
c.1318A>G (p.Arg440Gly)
c.*1586A>G (n.*1586A>G)
c.1060A>G (p.Arg354Gly)
n.1763A>G
n.1402A>G
c.1306A>G
c.1735A>G (p.Arg579Gly)
c.*1319A>G (n.*1319A>G)
c.1696A>G (p.Arg566Gly)
c.2014A>G (p.Arg672Gly)
c.1228A>G (p.Arg410Gly)
c.1306A>G (p.Arg436Gly)
c.1624A>G (p.Arg542Gly)
c.1570A>G (p.Arg524Gly)
c.1495A>G (p.Arg499Gly)
c.1216A>G (p.Arg406Gly)
n.5231A>G
c.1483A>G (p.Arg495Gly)
c.1726A>G (p.Arg576Gly)
c.1444A>G (p.Arg482Gly)
c.1528A>G (p.Arg510Gly)
c.1687A>G (p.Arg563Gly)
c.1516A>G (p.Arg506Gly)
c.1621A>G (p.Arg541Gly)
n.731A>G
c.1048A>G (p.Arg350Gly)
c.1705A>G (p.Arg569Gly)
c.1633A>G (p.Arg545Gly)
c.1582A>G (p.Arg528Gly)
c.1498A>G (p.Arg500Gly)
c.1225A>G (p.Arg409Gly)
c.2011A>G (p.Arg671Gly)
c.2002A>G (p.Arg668Gly)
c.1999A>G (p.Arg667Gly)
c.1702A>G (p.Arg568Gly)
c.1213A>G (p.Arg405Gly)
c.1693A>G (p.Arg565Gly)
c.1618A>G (p.Arg540Gly)
c.1579A>G (p.Arg527Gly)
c.1492A>G (p.Arg498Gly)
c.1486A>G (p.Arg496Gly)
c.1315A>G (p.Arg439Gly)
c.1471A>G (p.Arg491Gly)
c.1639A>G (p.Arg547Gly)
18g.55229018T>GCA504003108TCF4c.1708A>C (p.Arg570=)
c.1588A>C (p.Arg530=)
n.1388A>C
c.1636A>C (p.Arg546=)
c.*1416A>C (n.*1416A>C)
c.1318A>C (p.Arg440=)
c.*1586A>C (n.*1586A>C)
c.1060A>C (p.Arg354=)
n.1763A>C
n.1402A>C
c.1306A>C
c.1735A>C (p.Arg579=)
c.*1319A>C (n.*1319A>C)
c.1696A>C (p.Arg566=)
c.2014A>C (p.Arg672=)
c.1228A>C (p.Arg410=)
c.1306A>C (p.Arg436=)
c.1624A>C (p.Arg542=)
c.1570A>C (p.Arg524=)
c.1495A>C (p.Arg499=)
c.1216A>C (p.Arg406=)
n.5231A>C
c.1483A>C (p.Arg495=)
c.1726A>C (p.Arg576=)
c.1444A>C (p.Arg482=)
c.1528A>C (p.Arg510=)
c.1687A>C (p.Arg563=)
c.1516A>C (p.Arg506=)
c.1621A>C (p.Arg541=)
n.731A>C
c.1048A>C (p.Arg350=)
c.1705A>C (p.Arg569=)
c.1633A>C (p.Arg545=)
c.1582A>C (p.Arg528=)
c.1498A>C (p.Arg500=)
c.1225A>C (p.Arg409=)
c.2011A>C (p.Arg671=)
c.2002A>C (p.Arg668=)
c.1999A>C (p.Arg667=)
c.1702A>C (p.Arg568=)
c.1213A>C (p.Arg405=)
c.1693A>C (p.Arg565=)
c.1618A>C (p.Arg540=)
c.1579A>C (p.Arg527=)
c.1492A>C (p.Arg498=)
c.1486A>C (p.Arg496=)
c.1315A>C (p.Arg439=)
c.1471A>C (p.Arg491=)
c.1639A>C (p.Arg547=)
18g.55229019C>ACA504003109TCF4c.1707G>T (p.Arg569=)
c.1587G>T (p.Arg529=)
n.1387G>T
c.1635G>T (p.Arg545=)
c.*1415G>T (n.*1415G>T)
c.1317G>T (p.Arg439=)
c.*1585G>T (n.*1585G>T)
c.1059G>T (p.Arg353=)
n.1762G>T
n.1401G>T
c.1305G>T
c.1734G>T (p.Arg578=)
c.*1318G>T (n.*1318G>T)
c.1695G>T (p.Arg565=)
c.2013G>T (p.Arg671=)
c.1227G>T (p.Arg409=)
c.1305G>T (p.Arg435=)
c.1623G>T (p.Arg541=)
c.1569G>T (p.Arg523=)
c.1494G>T (p.Arg498=)
c.1215G>T (p.Arg405=)
n.5230G>T
c.1482G>T (p.Arg494=)
c.1725G>T (p.Arg575=)
c.1443G>T (p.Arg481=)
c.1527G>T (p.Arg509=)
c.1686G>T (p.Arg562=)
c.1515G>T (p.Arg505=)
c.1620G>T (p.Arg540=)
n.730G>T
c.1047G>T (p.Arg349=)
c.1704G>T (p.Arg568=)
c.1632G>T (p.Arg544=)
c.1581G>T (p.Arg527=)
c.1497G>T (p.Arg499=)
c.1224G>T (p.Arg408=)
c.2010G>T (p.Arg670=)
c.2001G>T (p.Arg667=)
c.1998G>T (p.Arg666=)
c.1701G>T (p.Arg567=)
c.1212G>T (p.Arg404=)
c.1692G>T (p.Arg564=)
c.1617G>T (p.Arg539=)
c.1578G>T (p.Arg526=)
c.1491G>T (p.Arg497=)
c.1485G>T (p.Arg495=)
c.1314G>T (p.Arg438=)
c.1470G>T (p.Arg490=)
c.1638G>T (p.Arg546=)
18g.55229019C=CA2305004863TCF4c.1707G= (p.Arg569=)
c.1587G= (p.Arg529=)
n.1387G=
c.1635G= (p.Arg545=)
c.*1415G= (n.*1415G=)
c.1317G= (p.Arg439=)
c.*1585G= (n.*1585G=)
c.1059G= (p.Arg353=)
n.1762G=
n.1401G=
c.1305G=
c.1734G= (p.Arg578=)
c.*1318G= (n.*1318G=)
c.1695G= (p.Arg565=)
c.2013G= (p.Arg671=)
c.1227G= (p.Arg409=)
c.1305G= (p.Arg435=)
c.1623G= (p.Arg541=)
c.1569G= (p.Arg523=)
c.1494G= (p.Arg498=)
c.1215G= (p.Arg405=)
n.5230G=
c.1482G= (p.Arg494=)
c.1725G= (p.Arg575=)
c.1443G= (p.Arg481=)
c.1527G= (p.Arg509=)
c.1686G= (p.Arg562=)
c.1515G= (p.Arg505=)
c.1620G= (p.Arg540=)
n.730G=
c.1047G= (p.Arg349=)
c.1704G= (p.Arg568=)
c.1632G= (p.Arg544=)
c.1581G= (p.Arg527=)
c.1497G= (p.Arg499=)
c.1224G= (p.Arg408=)
c.2010G= (p.Arg670=)
c.2001G= (p.Arg667=)
c.1998G= (p.Arg666=)
c.1701G= (p.Arg567=)
c.1212G= (p.Arg404=)
c.1692G= (p.Arg564=)
c.1617G= (p.Arg539=)
c.1578G= (p.Arg526=)
c.1491G= (p.Arg497=)
c.1485G= (p.Arg495=)
c.1314G= (p.Arg438=)
c.1470G= (p.Arg490=)
c.1638G= (p.Arg546=)
18g.55229019C>GCA504003111TCF4c.1707G>C (p.Arg569=)
c.1587G>C (p.Arg529=)
n.1387G>C
c.1635G>C (p.Arg545=)
c.*1415G>C (n.*1415G>C)
c.1317G>C (p.Arg439=)
c.*1585G>C (n.*1585G>C)
c.1059G>C (p.Arg353=)
n.1762G>C
n.1401G>C
c.1305G>C
c.1734G>C (p.Arg578=)
c.*1318G>C (n.*1318G>C)
c.1695G>C (p.Arg565=)
c.2013G>C (p.Arg671=)
c.1227G>C (p.Arg409=)
c.1305G>C (p.Arg435=)
c.1623G>C (p.Arg541=)
c.1569G>C (p.Arg523=)
c.1494G>C (p.Arg498=)
c.1215G>C (p.Arg405=)
n.5230G>C
c.1482G>C (p.Arg494=)
c.1725G>C (p.Arg575=)
c.1443G>C (p.Arg481=)
c.1527G>C (p.Arg509=)
c.1686G>C (p.Arg562=)
c.1515G>C (p.Arg505=)
c.1620G>C (p.Arg540=)
n.730G>C
c.1047G>C (p.Arg349=)
c.1704G>C (p.Arg568=)
c.1632G>C (p.Arg544=)
c.1581G>C (p.Arg527=)
c.1497G>C (p.Arg499=)
c.1224G>C (p.Arg408=)
c.2010G>C (p.Arg670=)
c.2001G>C (p.Arg667=)
c.1998G>C (p.Arg666=)
c.1701G>C (p.Arg567=)
c.1212G>C (p.Arg404=)
c.1692G>C (p.Arg564=)
c.1617G>C (p.Arg539=)
c.1578G>C (p.Arg526=)
c.1491G>C (p.Arg497=)
c.1485G>C (p.Arg495=)
c.1314G>C (p.Arg438=)
c.1470G>C (p.Arg490=)
c.1638G>C (p.Arg546=)
18g.55229019C>TCA504003113TCF4c.1707G>A (p.Arg569=)
c.1587G>A (p.Arg529=)
n.1387G>A
c.1635G>A (p.Arg545=)
c.*1415G>A (n.*1415G>A)
c.1317G>A (p.Arg439=)
c.*1585G>A (n.*1585G>A)
c.1059G>A (p.Arg353=)
n.1762G>A
n.1401G>A
c.1305G>A
c.1734G>A (p.Arg578=)
c.*1318G>A (n.*1318G>A)
c.1695G>A (p.Arg565=)
c.2013G>A (p.Arg671=)
c.1227G>A (p.Arg409=)
c.1305G>A (p.Arg435=)
c.1623G>A (p.Arg541=)
c.1569G>A (p.Arg523=)
c.1494G>A (p.Arg498=)
c.1215G>A (p.Arg405=)
n.5230G>A
c.1482G>A (p.Arg494=)
c.1725G>A (p.Arg575=)
c.1443G>A (p.Arg481=)
c.1527G>A (p.Arg509=)
c.1686G>A (p.Arg562=)
c.1515G>A (p.Arg505=)
c.1620G>A (p.Arg540=)
n.730G>A
c.1047G>A (p.Arg349=)
c.1704G>A (p.Arg568=)
c.1632G>A (p.Arg544=)
c.1581G>A (p.Arg527=)
c.1497G>A (p.Arg499=)
c.1224G>A (p.Arg408=)
c.2010G>A (p.Arg670=)
c.2001G>A (p.Arg667=)
c.1998G>A (p.Arg666=)
c.1701G>A (p.Arg567=)
c.1212G>A (p.Arg404=)
c.1692G>A (p.Arg564=)
c.1617G>A (p.Arg539=)
c.1578G>A (p.Arg526=)
c.1491G>A (p.Arg497=)
c.1485G>A (p.Arg495=)
c.1314G>A (p.Arg438=)
c.1470G>A (p.Arg490=)
c.1638G>A (p.Arg546=)
 dbSNP gnomAD v3 gnomAD v4
18g.55229020C>ACA402528988TCF4c.1706G>T (p.Arg569Leu)
c.1586G>T (p.Arg529Leu)
n.1386G>T
c.1634G>T (p.Arg545Leu)
c.*1414G>T (n.*1414G>T)
c.1316G>T (p.Arg439Leu)
c.*1584G>T (n.*1584G>T)
c.1058G>T (p.Arg353Leu)
n.1761G>T
n.1400G>T
c.1304G>T
c.1733G>T (p.Arg578Leu)
c.*1317G>T (n.*1317G>T)
c.1694G>T (p.Arg565Leu)
c.2012G>T (p.Arg671Leu)
c.1226G>T (p.Arg409Leu)
c.1304G>T (p.Arg435Leu)
c.1622G>T (p.Arg541Leu)
c.1568G>T (p.Arg523Leu)
c.1493G>T (p.Arg498Leu)
c.1214G>T (p.Arg405Leu)
n.5229G>T
c.1481G>T (p.Arg494Leu)
c.1724G>T (p.Arg575Leu)
c.1442G>T (p.Arg481Leu)
c.1526G>T (p.Arg509Leu)
c.1685G>T (p.Arg562Leu)
c.1514G>T (p.Arg505Leu)
c.1619G>T (p.Arg540Leu)
n.729G>T
c.1046G>T (p.Arg349Leu)
c.1703G>T (p.Arg568Leu)
c.1631G>T (p.Arg544Leu)
c.1580G>T (p.Arg527Leu)
c.1496G>T (p.Arg499Leu)
c.1223G>T (p.Arg408Leu)
c.2009G>T (p.Arg670Leu)
c.2000G>T (p.Arg667Leu)
c.1997G>T (p.Arg666Leu)
c.1700G>T (p.Arg567Leu)
c.1211G>T (p.Arg404Leu)
c.1691G>T (p.Arg564Leu)
c.1616G>T (p.Arg539Leu)
c.1577G>T (p.Arg526Leu)
c.1490G>T (p.Arg497Leu)
c.1484G>T (p.Arg495Leu)
c.1313G>T (p.Arg438Leu)
c.1469G>T (p.Arg490Leu)
c.1637G>T (p.Arg546Leu)
18g.55229020C>GCA402528989TCF4c.1706G>C (p.Arg569Pro)
c.1586G>C (p.Arg529Pro)
n.1386G>C
c.1634G>C (p.Arg545Pro)
c.*1414G>C (n.*1414G>C)
c.1316G>C (p.Arg439Pro)
c.*1584G>C (n.*1584G>C)
c.1058G>C (p.Arg353Pro)
n.1761G>C
n.1400G>C
c.1304G>C
c.1733G>C (p.Arg578Pro)
c.*1317G>C (n.*1317G>C)
c.1694G>C (p.Arg565Pro)
c.2012G>C (p.Arg671Pro)
c.1226G>C (p.Arg409Pro)
c.1304G>C (p.Arg435Pro)
c.1622G>C (p.Arg541Pro)
c.1568G>C (p.Arg523Pro)
c.1493G>C (p.Arg498Pro)
c.1214G>C (p.Arg405Pro)
n.5229G>C
c.1481G>C (p.Arg494Pro)
c.1724G>C (p.Arg575Pro)
c.1442G>C (p.Arg481Pro)
c.1526G>C (p.Arg509Pro)
c.1685G>C (p.Arg562Pro)
c.1514G>C (p.Arg505Pro)
c.1619G>C (p.Arg540Pro)
n.729G>C
c.1046G>C (p.Arg349Pro)
c.1703G>C (p.Arg568Pro)
c.1631G>C (p.Arg544Pro)
c.1580G>C (p.Arg527Pro)
c.1496G>C (p.Arg499Pro)
c.1223G>C (p.Arg408Pro)
c.2009G>C (p.Arg670Pro)
c.2000G>C (p.Arg667Pro)
c.1997G>C (p.Arg666Pro)
c.1700G>C (p.Arg567Pro)
c.1211G>C (p.Arg404Pro)
c.1691G>C (p.Arg564Pro)
c.1616G>C (p.Arg539Pro)
c.1577G>C (p.Arg526Pro)
c.1490G>C (p.Arg497Pro)
c.1484G>C (p.Arg495Pro)
c.1313G>C (p.Arg438Pro)
c.1469G>C (p.Arg490Pro)
c.1637G>C (p.Arg546Pro)
18g.55229020C>TCA402528992TCF4c.1706G>A (p.Arg569Gln)
c.1586G>A (p.Arg529Gln)
n.1386G>A
c.1634G>A (p.Arg545Gln)
c.*1414G>A (n.*1414G>A)
c.1316G>A (p.Arg439Gln)
c.*1584G>A (n.*1584G>A)
c.1058G>A (p.Arg353Gln)
n.1761G>A
n.1400G>A
c.1304G>A
c.1733G>A (p.Arg578Gln)
c.*1317G>A (n.*1317G>A)
c.1694G>A (p.Arg565Gln)
c.2012G>A (p.Arg671Gln)
c.1226G>A (p.Arg409Gln)
c.1304G>A (p.Arg435Gln)
c.1622G>A (p.Arg541Gln)
c.1568G>A (p.Arg523Gln)
c.1493G>A (p.Arg498Gln)
c.1214G>A (p.Arg405Gln)
n.5229G>A
c.1481G>A (p.Arg494Gln)
c.1724G>A (p.Arg575Gln)
c.1442G>A (p.Arg481Gln)
c.1526G>A (p.Arg509Gln)
c.1685G>A (p.Arg562Gln)
c.1514G>A (p.Arg505Gln)
c.1619G>A (p.Arg540Gln)
n.729G>A
c.1046G>A (p.Arg349Gln)
c.1703G>A (p.Arg568Gln)
c.1631G>A (p.Arg544Gln)
c.1580G>A (p.Arg527Gln)
c.1496G>A (p.Arg499Gln)
c.1223G>A (p.Arg408Gln)
c.2009G>A (p.Arg670Gln)
c.2000G>A (p.Arg667Gln)
c.1997G>A (p.Arg666Gln)
c.1700G>A (p.Arg567Gln)
c.1211G>A (p.Arg404Gln)
c.1691G>A (p.Arg564Gln)
c.1616G>A (p.Arg539Gln)
c.1577G>A (p.Arg526Gln)
c.1490G>A (p.Arg497Gln)
c.1484G>A (p.Arg495Gln)
c.1313G>A (p.Arg438Gln)
c.1469G>A (p.Arg490Gln)
c.1637G>A (p.Arg546Gln)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
18g.55229021G>ACA402528996TCF4c.1705C>T (p.Arg569Trp)
c.1585C>T (p.Arg529Trp)
n.1385C>T
c.1633C>T (p.Arg545Trp)
c.*1413C>T (n.*1413C>T)
c.1315C>T (p.Arg439Trp)
c.*1583C>T (n.*1583C>T)
c.1057C>T (p.Arg353Trp)
n.1760C>T
n.1399C>T
c.1303C>T
c.1732C>T (p.Arg578Trp)
c.*1316C>T (n.*1316C>T)
c.1693C>T (p.Arg565Trp)
c.2011C>T (p.Arg671Trp)
c.1225C>T (p.Arg409Trp)
c.1303C>T (p.Arg435Trp)
c.1621C>T (p.Arg541Trp)
c.1567C>T (p.Arg523Trp)
c.1492C>T (p.Arg498Trp)
c.1213C>T (p.Arg405Trp)
n.5228C>T
c.1480C>T (p.Arg494Trp)
c.1723C>T (p.Arg575Trp)
c.1441C>T (p.Arg481Trp)
c.1525C>T (p.Arg509Trp)
c.1684C>T (p.Arg562Trp)
c.1513C>T (p.Arg505Trp)
c.1618C>T (p.Arg540Trp)
n.728C>T
c.1045C>T (p.Arg349Trp)
c.1702C>T (p.Arg568Trp)
c.1630C>T (p.Arg544Trp)
c.1579C>T (p.Arg527Trp)
c.1495C>T (p.Arg499Trp)
c.1222C>T (p.Arg408Trp)
c.2008C>T (p.Arg670Trp)
c.1999C>T (p.Arg667Trp)
c.1996C>T (p.Arg666Trp)
c.1699C>T (p.Arg567Trp)
c.1210C>T (p.Arg404Trp)
c.1690C>T (p.Arg564Trp)
c.1615C>T (p.Arg539Trp)
c.1576C>T (p.Arg526Trp)
c.1489C>T (p.Arg497Trp)
c.1483C>T (p.Arg495Trp)
c.1312C>T (p.Arg438Trp)
c.1468C>T (p.Arg490Trp)
c.1636C>T (p.Arg546Trp)
 ClinVar
18g.55229021G>CCA402528998TCF4c.1705C>G (p.Arg569Gly)
c.1585C>G (p.Arg529Gly)
n.1385C>G
c.1633C>G (p.Arg545Gly)
c.*1413C>G (n.*1413C>G)
c.1315C>G (p.Arg439Gly)
c.*1583C>G (n.*1583C>G)
c.1057C>G (p.Arg353Gly)
n.1760C>G
n.1399C>G
c.1303C>G
c.1732C>G (p.Arg578Gly)
c.*1316C>G (n.*1316C>G)
c.1693C>G (p.Arg565Gly)
c.2011C>G (p.Arg671Gly)
c.1225C>G (p.Arg409Gly)
c.1303C>G (p.Arg435Gly)
c.1621C>G (p.Arg541Gly)
c.1567C>G (p.Arg523Gly)
c.1492C>G (p.Arg498Gly)
c.1213C>G (p.Arg405Gly)
n.5228C>G
c.1480C>G (p.Arg494Gly)
c.1723C>G (p.Arg575Gly)
c.1441C>G (p.Arg481Gly)
c.1525C>G (p.Arg509Gly)
c.1684C>G (p.Arg562Gly)
c.1513C>G (p.Arg505Gly)
c.1618C>G (p.Arg540Gly)
n.728C>G
c.1045C>G (p.Arg349Gly)
c.1702C>G (p.Arg568Gly)
c.1630C>G (p.Arg544Gly)
c.1579C>G (p.Arg527Gly)
c.1495C>G (p.Arg499Gly)
c.1222C>G (p.Arg408Gly)
c.2008C>G (p.Arg670Gly)
c.1999C>G (p.Arg667Gly)
c.1996C>G (p.Arg666Gly)
c.1699C>G (p.Arg567Gly)
c.1210C>G (p.Arg404Gly)
c.1690C>G (p.Arg564Gly)
c.1615C>G (p.Arg539Gly)
c.1576C>G (p.Arg526Gly)
c.1489C>G (p.Arg497Gly)
c.1483C>G (p.Arg495Gly)
c.1312C>G (p.Arg438Gly)
c.1468C>G (p.Arg490Gly)
c.1636C>G (p.Arg546Gly)
18g.55229021G>TCA504003119TCF4c.1705C>A (p.Arg569=)
c.1585C>A (p.Arg529=)
n.1385C>A
c.1633C>A (p.Arg545=)
c.*1413C>A (n.*1413C>A)
c.1315C>A (p.Arg439=)
c.*1583C>A (n.*1583C>A)
c.1057C>A (p.Arg353=)
n.1760C>A
n.1399C>A
c.1303C>A
c.1732C>A (p.Arg578=)
c.*1316C>A (n.*1316C>A)
c.1693C>A (p.Arg565=)
c.2011C>A (p.Arg671=)
c.1225C>A (p.Arg409=)
c.1303C>A (p.Arg435=)
c.1621C>A (p.Arg541=)
c.1567C>A (p.Arg523=)
c.1492C>A (p.Arg498=)
c.1213C>A (p.Arg405=)
n.5228C>A
c.1480C>A (p.Arg494=)
c.1723C>A (p.Arg575=)
c.1441C>A (p.Arg481=)
c.1525C>A (p.Arg509=)
c.1684C>A (p.Arg562=)
c.1513C>A (p.Arg505=)
c.1618C>A (p.Arg540=)
n.728C>A
c.1045C>A (p.Arg349=)
c.1702C>A (p.Arg568=)
c.1630C>A (p.Arg544=)
c.1579C>A (p.Arg527=)
c.1495C>A (p.Arg499=)
c.1222C>A (p.Arg408=)
c.2008C>A (p.Arg670=)
c.1999C>A (p.Arg667=)
c.1996C>A (p.Arg666=)
c.1699C>A (p.Arg567=)
c.1210C>A (p.Arg404=)
c.1690C>A (p.Arg564=)
c.1615C>A (p.Arg539=)
c.1576C>A (p.Arg526=)
c.1489C>A (p.Arg497=)
c.1483C>A (p.Arg495=)
c.1312C>A (p.Arg438=)
c.1468C>A (p.Arg490=)
c.1636C>A (p.Arg546=)
 gnomAD v4
18g.55229022C>ACA402529000TCF4c.1704G>T (p.Glu568Asp)
c.1584G>T (p.Glu528Asp)
n.1384G>T
c.1632G>T (p.Glu544Asp)
c.*1412G>T (n.*1412G>T)
c.1314G>T (p.Glu438Asp)
c.*1582G>T (n.*1582G>T)
c.1056G>T (p.Glu352Asp)
n.1759G>T
n.1398G>T
c.1302G>T
c.1731G>T (p.Glu577Asp)
c.*1315G>T (n.*1315G>T)
c.1692G>T (p.Glu564Asp)
c.2010G>T (p.Glu670Asp)
c.1224G>T (p.Glu408Asp)
c.1302G>T (p.Glu434Asp)
c.1620G>T (p.Glu540Asp)
c.1566G>T (p.Glu522Asp)
c.1491G>T (p.Glu497Asp)
c.1212G>T (p.Glu404Asp)
n.5227G>T
c.1479G>T (p.Glu493Asp)
c.1722G>T (p.Glu574Asp)
c.1440G>T (p.Glu480Asp)
c.1524G>T (p.Glu508Asp)
c.1683G>T (p.Glu561Asp)
c.1512G>T (p.Glu504Asp)
c.1617G>T (p.Glu539Asp)
n.727G>T
c.1044G>T (p.Glu348Asp)
c.1701G>T (p.Glu567Asp)
c.1629G>T (p.Glu543Asp)
c.1578G>T (p.Glu526Asp)
c.1494G>T (p.Glu498Asp)
c.1221G>T (p.Glu407Asp)
c.2007G>T (p.Glu669Asp)
c.1998G>T (p.Glu666Asp)
c.1995G>T (p.Glu665Asp)
c.1698G>T (p.Glu566Asp)
c.1209G>T (p.Glu403Asp)
c.1689G>T (p.Glu563Asp)
c.1614G>T (p.Glu538Asp)
c.1575G>T (p.Glu525Asp)
c.1488G>T (p.Glu496Asp)
c.1482G>T (p.Glu494Asp)
c.1311G>T (p.Glu437Asp)
c.1467G>T (p.Glu489Asp)
c.1635G>T (p.Glu545Asp)
 dbSNP
18g.55229022C=CA2305004864TCF4c.1704G= (p.Glu568=)
c.1584G= (p.Glu528=)
n.1384G=
c.1632G= (p.Glu544=)
c.*1412G= (n.*1412G=)
c.1314G= (p.Glu438=)
c.*1582G= (n.*1582G=)
c.1056G= (p.Glu352=)
n.1759G=
n.1398G=
c.1302G=
c.1731G= (p.Glu577=)
c.*1315G= (n.*1315G=)
c.1692G= (p.Glu564=)
c.2010G= (p.Glu670=)
c.1224G= (p.Glu408=)
c.1302G= (p.Glu434=)
c.1620G= (p.Glu540=)
c.1566G= (p.Glu522=)
c.1491G= (p.Glu497=)
c.1212G= (p.Glu404=)
n.5227G=
c.1479G= (p.Glu493=)
c.1722G= (p.Glu574=)
c.1440G= (p.Glu480=)
c.1524G= (p.Glu508=)
c.1683G= (p.Glu561=)
c.1512G= (p.Glu504=)
c.1617G= (p.Glu539=)
n.727G=
c.1044G= (p.Glu348=)
c.1701G= (p.Glu567=)
c.1629G= (p.Glu543=)
c.1578G= (p.Glu526=)
c.1494G= (p.Glu498=)
c.1221G= (p.Glu407=)
c.2007G= (p.Glu669=)
c.1998G= (p.Glu666=)
c.1995G= (p.Glu665=)
c.1698G= (p.Glu566=)
c.1209G= (p.Glu403=)
c.1689G= (p.Glu563=)
c.1614G= (p.Glu538=)
c.1575G= (p.Glu525=)
c.1488G= (p.Glu496=)
c.1482G= (p.Glu494=)
c.1311G= (p.Glu437=)
c.1467G= (p.Glu489=)
c.1635G= (p.Glu545=)

Number of alleles fetched