Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.142912547_142912549dupCA1120128557CYP11B2,GMLc.1391_1393dup (p.Leu464_His465insLeu)
c.182-1416_182-1414dup (n.182-1416_182-1414dup)
c.1538_1540dup (p.Leu513_His514insLeu)
c.1469_1471dup (p.Leu490_His491insLeu)
c.1460_1462dup (p.Leu487_His488insLeu)
c.215-1416_215-1414dup (n.215-1416_215-1414dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.142912547_142912549delCA4905830CYP11B2,GMLc.1391_1393del (p.Leu464del)
c.182-1416_182-1414del (n.182-1416_182-1414del)
c.1538_1540del (p.Leu513del)
c.1469_1471del (p.Leu490del)
c.1460_1462del (p.Leu487del)
c.215-1416_215-1414del (n.215-1416_215-1414del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.142912544_142912549delCA1120128558CYP11B2,GMLc.1388_1393del (p.Leu463_Leu464del)
c.182-1419_182-1414del (n.182-1419_182-1414del)
c.1535_1540del (p.Leu512_Leu513del)
c.1466_1471del (p.Leu489_Leu490del)
c.1457_1462del (p.Leu486_Leu487del)
c.215-1419_215-1414del (n.215-1419_215-1414del)
 dbSNP gnomAD v3 gnomAD v4
8g.142912546A=CA1825514465CYP11B2,GMLc.1382T= (p.Leu461=)
c.182-1417A= (n.182-1417A=)
c.1529T= (p.Leu510=)
c.1460T= (p.Leu487=)
c.1451T= (p.Leu484=)
c.215-1417A= (n.215-1417A=)
8g.142912546A>CCA372385904CYP11B2,GMLc.1382T>G (p.Leu461Arg)
c.182-1417A>C (n.182-1417A>C)
c.1529T>G (p.Leu510Arg)
c.1460T>G (p.Leu487Arg)
c.1451T>G (p.Leu484Arg)
c.215-1417A>C (n.215-1417A>C)
8g.142912546A>GCA126943CYP11B2,GMLc.1382T>C (p.Leu461Pro)
c.182-1417A>G (n.182-1417A>G)
c.1529T>C (p.Leu510Pro)
c.1460T>C (p.Leu487Pro)
c.1451T>C (p.Leu484Pro)
c.215-1417A>G (n.215-1417A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.142912546A>TCA372385910CYP11B2,GMLc.1382T>A (p.Leu461Gln)
c.182-1417A>T (n.182-1417A>T)
c.1529T>A (p.Leu510Gln)
c.1460T>A (p.Leu487Gln)
c.1451T>A (p.Leu484Gln)
c.215-1417A>T (n.215-1417A>T)
8g.142912547G>ACA463505835CYP11B2,GMLc.1381C>T (p.Leu461=)
c.182-1416G>A (n.182-1416G>A)
c.1528C>T (p.Leu510=)
c.1459C>T (p.Leu487=)
c.1450C>T (p.Leu484=)
c.215-1416G>A (n.215-1416G>A)
 dbSNP gnomAD v2
8g.142912547G>CCA372385919CYP11B2,GMLc.1381C>G (p.Leu461Val)
c.182-1416G>C (n.182-1416G>C)
c.1528C>G (p.Leu510Val)
c.1459C>G (p.Leu487Val)
c.1450C>G (p.Leu484Val)
c.215-1416G>C (n.215-1416G>C)
 dbSNP gnomAD v2 gnomAD v4
8g.142912547G=CA1825514466CYP11B2,GMLc.1381C= (p.Leu461=)
c.182-1416G= (n.182-1416G=)
c.1528C= (p.Leu510=)
c.1459C= (p.Leu487=)
c.1450C= (p.Leu484=)
c.215-1416G= (n.215-1416G=)
8g.142912547G>TCA372385917CYP11B2,GMLc.1381C>A (p.Leu461Met)
c.182-1416G>T (n.182-1416G>T)
c.1528C>A (p.Leu510Met)
c.1459C>A (p.Leu487Met)
c.1450C>A (p.Leu484Met)
c.215-1416G>T (n.215-1416G>T)
 gnomAD v4
8g.142912548C>ACA372385924CYP11B2,GMLc.1380G>T (p.Met460Ile)
c.182-1415C>A (n.182-1415C>A)
c.1527G>T (p.Met509Ile)
c.1458G>T (p.Met486Ile)
c.1449G>T (p.Met483Ile)
c.215-1415C>A (n.215-1415C>A)
 COSMIC
8g.142912548C>GCA372385926CYP11B2,GMLc.1380G>C (p.Met460Ile)
c.182-1415C>G (n.182-1415C>G)
c.1527G>C (p.Met509Ile)
c.1458G>C (p.Met486Ile)
c.1449G>C (p.Met483Ile)
c.215-1415C>G (n.215-1415C>G)
8g.142912548C>TCA372385929CYP11B2,GMLc.1380G>A (p.Met460Ile)
c.182-1415C>T (n.182-1415C>T)
c.1527G>A (p.Met509Ile)
c.1458G>A (p.Met486Ile)
c.1449G>A (p.Met483Ile)
c.215-1415C>T (n.215-1415C>T)
8g.142912549A=CA1825514467CYP11B2,GMLc.1379T= (p.Met460=)
c.182-1414A= (n.182-1414A=)
c.1526T= (p.Met509=)
c.1457T= (p.Met486=)
c.1448T= (p.Met483=)
c.215-1414A= (n.215-1414A=)
8g.142912549A>CCA4905831CYP11B2,GMLc.1379T>G (p.Met460Arg)
c.182-1414A>C (n.182-1414A>C)
c.1526T>G (p.Met509Arg)
c.1457T>G (p.Met486Arg)
c.1448T>G (p.Met483Arg)
c.215-1414A>C (n.215-1414A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912549A>GCA187453381CYP11B2,GMLc.1379T>C (p.Met460Thr)
c.182-1414A>G (n.182-1414A>G)
c.1526T>C (p.Met509Thr)
c.1457T>C (p.Met486Thr)
c.1448T>C (p.Met483Thr)
c.215-1414A>G (n.215-1414A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142912549A>TCA372385933CYP11B2,GMLc.1379T>A (p.Met460Lys)
c.182-1414A>T (n.182-1414A>T)
c.1526T>A (p.Met509Lys)
c.1457T>A (p.Met486Lys)
c.1448T>A (p.Met483Lys)
c.215-1414A>T (n.215-1414A>T)
 gnomAD v4
8g.142912550T>ACA372385935CYP11B2,GMLc.1378A>T (p.Met460Leu)
c.182-1413T>A (n.182-1413T>A)
c.1525A>T (p.Met509Leu)
c.1456A>T (p.Met486Leu)
c.1447A>T (p.Met483Leu)
c.215-1413T>A (n.215-1413T>A)
8g.142912550T>CCA372385939CYP11B2,GMLc.1378A>G (p.Met460Val)
c.182-1413T>C (n.182-1413T>C)
c.1525A>G (p.Met509Val)
c.1456A>G (p.Met486Val)
c.1447A>G (p.Met483Val)
c.215-1413T>C (n.215-1413T>C)
 gnomAD v4
8g.142912550T>GCA372385936CYP11B2,GMLc.1378A>C (p.Met460Leu)
c.182-1413T>G (n.182-1413T>G)
c.1525A>C (p.Met509Leu)
c.1456A>C (p.Met486Leu)
c.1447A>C (p.Met483Leu)
c.215-1413T>G (n.215-1413T>G)
8g.142912550_142912556delinsTCTCTGCCA1825514468CYP11B2,GMLc.1372_1378delinsGCAGAGA (p.Ala458=)
c.182-1413_182-1407delinsTCTCTGC (n.182-1413_182-1407delinsTCTCTGC)
c.1519_1525delinsGCAGAGA (p.Ala507=)
c.1450_1456delinsGCAGAGA (p.Ala484=)
c.1441_1447delinsGCAGAGA (p.Ala481=)
c.215-1413_215-1407delinsTCTCTGC (n.215-1413_215-1407delinsTCTCTGC)
8g.142912551C>ACA372385941CYP11B2,GMLc.1377G>T (p.Glu459Asp)
c.182-1412C>A (n.182-1412C>A)
c.1524G>T (p.Glu508Asp)
c.1455G>T (p.Glu485Asp)
c.1446G>T (p.Glu482Asp)
c.215-1412C>A (n.215-1412C>A)
8g.142912551C>GCA372385944CYP11B2,GMLc.1377G>C (p.Glu459Asp)
c.182-1412C>G (n.182-1412C>G)
c.1524G>C (p.Glu508Asp)
c.1455G>C (p.Glu485Asp)
c.1446G>C (p.Glu482Asp)
c.215-1412C>G (n.215-1412C>G)
8g.142912551C>TCA463505839CYP11B2,GMLc.1377G>A (p.Glu459=)
c.182-1412C>T (n.182-1412C>T)
c.1524G>A (p.Glu508=)
c.1455G>A (p.Glu485=)
c.1446G>A (p.Glu482=)
c.215-1412C>T (n.215-1412C>T)
 ClinVar
8g.142912558_142912563delCA1825514469CYP11B2,GMLc.1372_1377del (p.Ala458_Glu459del)
c.182-1405_182-1400del (n.182-1405_182-1400del)
c.1519_1524del (p.Ala507_Glu508del)
c.1450_1455del (p.Ala484_Glu485del)
c.1441_1446del (p.Ala481_Glu482del)
c.215-1405_215-1400del (n.215-1405_215-1400del)
 dbSNP
8g.142912552T>ACA4905832CYP11B2,GMLc.1376A>T (p.Glu459Val)
c.182-1411T>A (n.182-1411T>A)
c.1523A>T (p.Glu508Val)
c.1454A>T (p.Glu485Val)
c.1445A>T (p.Glu482Val)
c.215-1411T>A (n.215-1411T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142912552T>CCA372385954CYP11B2,GMLc.1376A>G (p.Glu459Gly)
c.182-1411T>C (n.182-1411T>C)
c.1523A>G (p.Glu508Gly)
c.1454A>G (p.Glu485Gly)
c.1445A>G (p.Glu482Gly)
c.215-1411T>C (n.215-1411T>C)
8g.142912552T>GCA372385957CYP11B2,GMLc.1376A>C (p.Glu459Ala)
c.182-1411T>G (n.182-1411T>G)
c.1523A>C (p.Glu508Ala)
c.1454A>C (p.Glu485Ala)
c.1445A>C (p.Glu482Ala)
c.215-1411T>G (n.215-1411T>G)
8g.142912552T=CA1825514470CYP11B2,GMLc.1376A= (p.Glu459=)
c.182-1411T= (n.182-1411T=)
c.1523A= (p.Glu508=)
c.1454A= (p.Glu485=)
c.1445A= (p.Glu482=)
c.215-1411T= (n.215-1411T=)
8g.142912553C>ACA372385961CYP11B2,GMLc.1375G>T (p.Glu459Ter)
c.182-1410C>A (n.182-1410C>A)
c.1522G>T (p.Glu508Ter)
c.1453G>T (p.Glu485Ter)
c.1444G>T (p.Glu482Ter)
c.215-1410C>A (n.215-1410C>A)
8g.142912553C>GCA372385964CYP11B2,GMLc.1375G>C (p.Glu459Gln)
c.182-1410C>G (n.182-1410C>G)
c.1522G>C (p.Glu508Gln)
c.1453G>C (p.Glu485Gln)
c.1444G>C (p.Glu482Gln)
c.215-1410C>G (n.215-1410C>G)
8g.142912553C>TCA372385967CYP11B2,GMLc.1375G>A (p.Glu459Lys)
c.182-1410C>T (n.182-1410C>T)
c.1522G>A (p.Glu508Lys)
c.1453G>A (p.Glu485Lys)
c.1444G>A (p.Glu482Lys)
c.215-1410C>T (n.215-1410C>T)
8g.142912554T>ACA463505841CYP11B2,GMLc.1374A>T (p.Ala458=)
c.182-1409T>A (n.182-1409T>A)
c.1521A>T (p.Ala507=)
c.1452A>T (p.Ala484=)
c.1443A>T (p.Ala481=)
c.215-1409T>A (n.215-1409T>A)
8g.142912554T>CCA463505842CYP11B2,GMLc.1374A>G (p.Ala458=)
c.182-1409T>C (n.182-1409T>C)
c.1521A>G (p.Ala507=)
c.1452A>G (p.Ala484=)
c.1443A>G (p.Ala481=)
c.215-1409T>C (n.215-1409T>C)
8g.142912554T>GCA463505843CYP11B2,GMLc.1374A>C (p.Ala458=)
c.182-1409T>G (n.182-1409T>G)
c.1521A>C (p.Ala507=)
c.1452A>C (p.Ala484=)
c.1443A>C (p.Ala481=)
c.215-1409T>G (n.215-1409T>G)
8g.142912555G>ACA372385971CYP11B2,GMLc.1373C>T (p.Ala458Val)
c.182-1408G>A (n.182-1408G>A)
c.1520C>T (p.Ala507Val)
c.1451C>T (p.Ala484Val)
c.1442C>T (p.Ala481Val)
c.215-1408G>A (n.215-1408G>A)
 gnomAD v4
8g.142912555G>CCA372385974CYP11B2,GMLc.1373C>G (p.Ala458Gly)
c.182-1408G>C (n.182-1408G>C)
c.1520C>G (p.Ala507Gly)
c.1451C>G (p.Ala484Gly)
c.1442C>G (p.Ala481Gly)
c.215-1408G>C (n.215-1408G>C)
8g.142912555G=CA1825514471CYP11B2,GMLc.1373C= (p.Ala458=)
c.182-1408G= (n.182-1408G=)
c.1520C= (p.Ala507=)
c.1451C= (p.Ala484=)
c.1442C= (p.Ala481=)
c.215-1408G= (n.215-1408G=)
8g.142912555G>TCA372385977CYP11B2,GMLc.1373C>A (p.Ala458Glu)
c.182-1408G>T (n.182-1408G>T)
c.1520C>A (p.Ala507Glu)
c.1451C>A (p.Ala484Glu)
c.1442C>A (p.Ala481Glu)
c.215-1408G>T (n.215-1408G>T)
8g.142912556C>ACA4905833CYP11B2,GMLc.1372G>T (p.Ala458Ser)
c.182-1407C>A (n.182-1407C>A)
c.1519G>T (p.Ala507Ser)
c.1450G>T (p.Ala484Ser)
c.1441G>T (p.Ala481Ser)
c.215-1407C>A (n.215-1407C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912556C=CA1825514473CYP11B2,GMLc.1372G= (p.Ala458=)
c.182-1407C= (n.182-1407C=)
c.1519G= (p.Ala507=)
c.1450G= (p.Ala484=)
c.1441G= (p.Ala481=)
c.215-1407C= (n.215-1407C=)
8g.142912556C>GCA372385988CYP11B2,GMLc.1372G>C (p.Ala458Pro)
c.182-1407C>G (n.182-1407C>G)
c.1519G>C (p.Ala507Pro)
c.1450G>C (p.Ala484Pro)
c.1441G>C (p.Ala481Pro)
c.215-1407C>G (n.215-1407C>G)
8g.142912556C>TCA372385991CYP11B2,GMLc.1372G>A (p.Ala458Thr)
c.182-1407C>T (n.182-1407C>T)
c.1519G>A (p.Ala507Thr)
c.1450G>A (p.Ala484Thr)
c.1441G>A (p.Ala481Thr)
c.215-1407C>T (n.215-1407C>T)
8g.142912556_142912557dupCA1825514472CYP11B2,GMLc.1371_1372dup (p.Ala458GlyfsTer12)
c.182-1407_182-1406dup (n.182-1407_182-1406dup)
c.1518_1519dup (p.Ala507GlyfsTer12)
c.1449_1450dup (p.Ala484GlyfsTer12)
c.1440_1441dup (p.Ala481GlyfsTer12)
c.215-1407_215-1406dup (n.215-1407_215-1406dup)
 dbSNP gnomAD v4
8g.142912557C>ACA372385999CYP11B2,GMLc.1371G>T (p.Glu457Asp)
c.182-1406C>A (n.182-1406C>A)
c.1518G>T (p.Glu506Asp)
c.1449G>T (p.Glu483Asp)
c.1440G>T (p.Glu480Asp)
c.215-1406C>A (n.215-1406C>A)
8g.142912557C=CA1825514474CYP11B2,GMLc.1371G= (p.Glu457=)
c.182-1406C= (n.182-1406C=)
c.1518G= (p.Glu506=)
c.1449G= (p.Glu483=)
c.1440G= (p.Glu480=)
c.215-1406C= (n.215-1406C=)
8g.142912557C>GCA372385997CYP11B2,GMLc.1371G>C (p.Glu457Asp)
c.182-1406C>G (n.182-1406C>G)
c.1518G>C (p.Glu506Asp)
c.1449G>C (p.Glu483Asp)
c.1440G>C (p.Glu480Asp)
c.215-1406C>G (n.215-1406C>G)
 dbSNP gnomAD v3 gnomAD v4
8g.142912557C>TCA463505849CYP11B2,GMLc.1371G>A (p.Glu457=)
c.182-1406C>T (n.182-1406C>T)
c.1518G>A (p.Glu506=)
c.1449G>A (p.Glu483=)
c.1440G>A (p.Glu480=)
c.215-1406C>T (n.215-1406C>T)
 ClinVar
8g.142912558T>ACA372386002CYP11B2,GMLc.1370A>T (p.Glu457Val)
c.182-1405T>A (n.182-1405T>A)
c.1517A>T (p.Glu506Val)
c.1448A>T (p.Glu483Val)
c.1439A>T (p.Glu480Val)
c.215-1405T>A (n.215-1405T>A)
8g.142912558T>CCA372386005CYP11B2,GMLc.1370A>G (p.Glu457Gly)
c.182-1405T>C (n.182-1405T>C)
c.1517A>G (p.Glu506Gly)
c.1448A>G (p.Glu483Gly)
c.1439A>G (p.Glu480Gly)
c.215-1405T>C (n.215-1405T>C)
8g.142912558T>GCA372386007CYP11B2,GMLc.1370A>C (p.Glu457Ala)
c.182-1405T>G (n.182-1405T>G)
c.1517A>C (p.Glu506Ala)
c.1448A>C (p.Glu483Ala)
c.1439A>C (p.Glu480Ala)
c.215-1405T>G (n.215-1405T>G)
8g.142912559C>ACA372386010CYP11B2,GMLc.1369G>T (p.Glu457Ter)
c.182-1404C>A (n.182-1404C>A)
c.1516G>T (p.Glu506Ter)
c.1447G>T (p.Glu483Ter)
c.1438G>T (p.Glu480Ter)
c.215-1404C>A (n.215-1404C>A)
 COSMIC
8g.142912559C>GCA372386011CYP11B2,GMLc.1369G>C (p.Glu457Gln)
c.182-1404C>G (n.182-1404C>G)
c.1516G>C (p.Glu506Gln)
c.1447G>C (p.Glu483Gln)
c.1438G>C (p.Glu480Gln)
c.215-1404C>G (n.215-1404C>G)
8g.142912559C>TCA372386013CYP11B2,GMLc.1369G>A (p.Glu457Lys)
c.182-1404C>T (n.182-1404C>T)
c.1516G>A (p.Glu506Lys)
c.1447G>A (p.Glu483Lys)
c.1438G>A (p.Glu480Lys)
c.215-1404C>T (n.215-1404C>T)
 gnomAD v4
8g.142912560T>ACA463505852CYP11B2,GMLc.1368A>T (p.Ala456=)
c.182-1403T>A (n.182-1403T>A)
c.1515A>T (p.Ala505=)
c.1446A>T (p.Ala482=)
c.1437A>T (p.Ala479=)
c.215-1403T>A (n.215-1403T>A)
 gnomAD v4
8g.142912560T>CCA463505851CYP11B2,GMLc.1368A>G (p.Ala456=)
c.182-1403T>C (n.182-1403T>C)
c.1515A>G (p.Ala505=)
c.1446A>G (p.Ala482=)
c.1437A>G (p.Ala479=)
c.215-1403T>C (n.215-1403T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.142912560T>GCA463505850CYP11B2,GMLc.1368A>C (p.Ala456=)
c.182-1403T>G (n.182-1403T>G)
c.1515A>C (p.Ala505=)
c.1446A>C (p.Ala482=)
c.1437A>C (p.Ala479=)
c.215-1403T>G (n.215-1403T>G)
 ClinVar dbSNP
8g.142912560T=CA1825514475CYP11B2,GMLc.1368A= (p.Ala456=)
c.182-1403T= (n.182-1403T=)
c.1515A= (p.Ala505=)
c.1446A= (p.Ala482=)
c.1437A= (p.Ala479=)
c.215-1403T= (n.215-1403T=)
8g.142912561G>ACA372386016CYP11B2,GMLc.1367C>T (p.Ala456Val)
c.182-1402G>A (n.182-1402G>A)
c.1514C>T (p.Ala505Val)
c.1445C>T (p.Ala482Val)
c.1436C>T (p.Ala479Val)
c.215-1402G>A (n.215-1402G>A)
8g.142912561G>CCA372386019CYP11B2,GMLc.1367C>G (p.Ala456Gly)
c.182-1402G>C (n.182-1402G>C)
c.1514C>G (p.Ala505Gly)
c.1445C>G (p.Ala482Gly)
c.1436C>G (p.Ala479Gly)
c.215-1402G>C (n.215-1402G>C)
8g.142912561G>TCA372386022CYP11B2,GMLc.1367C>A (p.Ala456Glu)
c.182-1402G>T (n.182-1402G>T)
c.1514C>A (p.Ala505Glu)
c.1445C>A (p.Ala482Glu)
c.1436C>A (p.Ala479Glu)
c.215-1402G>T (n.215-1402G>T)
8g.142912562C>ACA372386025CYP11B2,GMLc.1366G>T (p.Ala456Ser)
c.182-1401C>A (n.182-1401C>A)
c.1513G>T (p.Ala505Ser)
c.1444G>T (p.Ala482Ser)
c.1435G>T (p.Ala479Ser)
c.215-1401C>A (n.215-1401C>A)
8g.142912562C>GCA372386028CYP11B2,GMLc.1366G>C (p.Ala456Pro)
c.182-1401C>G (n.182-1401C>G)
c.1513G>C (p.Ala505Pro)
c.1444G>C (p.Ala482Pro)
c.1435G>C (p.Ala479Pro)
c.215-1401C>G (n.215-1401C>G)
8g.142912562C>TCA372386032CYP11B2,GMLc.1366G>A (p.Ala456Thr)
c.182-1401C>T (n.182-1401C>T)
c.1513G>A (p.Ala505Thr)
c.1444G>A (p.Ala482Thr)
c.1435G>A (p.Ala479Thr)
c.215-1401C>T (n.215-1401C>T)
8g.142912563C>ACA463505858CYP11B2,GMLc.1365G>T (p.Leu455=)
c.182-1400C>A (n.182-1400C>A)
c.1512G>T (p.Leu504=)
c.1443G>T (p.Leu481=)
c.1434G>T (p.Leu478=)
c.215-1400C>A (n.215-1400C>A)
8g.142912563C>GCA463505857CYP11B2,GMLc.1365G>C (p.Leu455=)
c.182-1400C>G (n.182-1400C>G)
c.1512G>C (p.Leu504=)
c.1443G>C (p.Leu481=)
c.1434G>C (p.Leu478=)
c.215-1400C>G (n.215-1400C>G)
8g.142912563C>TCA463505856CYP11B2,GMLc.1365G>A (p.Leu455=)
c.182-1400C>T (n.182-1400C>T)
c.1512G>A (p.Leu504=)
c.1443G>A (p.Leu481=)
c.1434G>A (p.Leu478=)
c.215-1400C>T (n.215-1400C>T)
8g.142912564A>CCA372386038CYP11B2,GMLc.1364T>G (p.Leu455Arg)
c.182-1399A>C (n.182-1399A>C)
c.1511T>G (p.Leu504Arg)
c.1442T>G (p.Leu481Arg)
c.1433T>G (p.Leu478Arg)
c.215-1399A>C (n.215-1399A>C)
8g.142912564A>GCA372386039CYP11B2,GMLc.1364T>C (p.Leu455Pro)
c.182-1399A>G (n.182-1399A>G)
c.1511T>C (p.Leu504Pro)
c.1442T>C (p.Leu481Pro)
c.1433T>C (p.Leu478Pro)
c.215-1399A>G (n.215-1399A>G)
8g.142912564A>TCA372386036CYP11B2,GMLc.1364T>A (p.Leu455Gln)
c.182-1399A>T (n.182-1399A>T)
c.1511T>A (p.Leu504Gln)
c.1442T>A (p.Leu481Gln)
c.1433T>A (p.Leu478Gln)
c.215-1399A>T (n.215-1399A>T)
8g.142912565G>ACA463505859CYP11B2,GMLc.1363C>T (p.Leu455=)
c.182-1398G>A (n.182-1398G>A)
c.1510C>T (p.Leu504=)
c.1441C>T (p.Leu481=)
c.1432C>T (p.Leu478=)
c.215-1398G>A (n.215-1398G>A)
8g.142912565G>CCA372386041CYP11B2,GMLc.1363C>G (p.Leu455Val)
c.182-1398G>C (n.182-1398G>C)
c.1510C>G (p.Leu504Val)
c.1441C>G (p.Leu481Val)
c.1432C>G (p.Leu478Val)
c.215-1398G>C (n.215-1398G>C)
8g.142912565G>TCA372386044CYP11B2,GMLc.1363C>A (p.Leu455Met)
c.182-1398G>T (n.182-1398G>T)
c.1510C>A (p.Leu504Met)
c.1441C>A (p.Leu481Met)
c.1432C>A (p.Leu478Met)
c.215-1398G>T (n.215-1398G>T)
8g.142912566G>ACA463505863CYP11B2,GMLc.1362C>T (p.Arg454=)
c.182-1397G>A (n.182-1397G>A)
c.1509C>T (p.Arg503=)
c.1440C>T (p.Arg480=)
c.1431C>T (p.Arg477=)
c.215-1397G>A (n.215-1397G>A)
 dbSNP gnomAD v4
8g.142912566G>CCA463505865CYP11B2,GMLc.1362C>G (p.Arg454=)
c.182-1397G>C (n.182-1397G>C)
c.1509C>G (p.Arg503=)
c.1440C>G (p.Arg480=)
c.1431C>G (p.Arg477=)
c.215-1397G>C (n.215-1397G>C)
8g.142912566G=CA1825514476CYP11B2,GMLc.1362C= (p.Arg454=)
c.182-1397G= (n.182-1397G=)
c.1509C= (p.Arg503=)
c.1440C= (p.Arg480=)
c.1431C= (p.Arg477=)
c.215-1397G= (n.215-1397G=)
8g.142912566G>TCA463505864CYP11B2,GMLc.1362C>A (p.Arg454=)
c.182-1397G>T (n.182-1397G>T)
c.1509C>A (p.Arg503=)
c.1440C>A (p.Arg480=)
c.1431C>A (p.Arg477=)
c.215-1397G>T (n.215-1397G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142912567C>ACA372386048CYP11B2,GMLc.1361G>T (p.Arg454Leu)
c.182-1396C>A (n.182-1396C>A)
c.1508G>T (p.Arg503Leu)
c.1439G>T (p.Arg480Leu)
c.1430G>T (p.Arg477Leu)
c.215-1396C>A (n.215-1396C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142912567C=CA1825514477CYP11B2,GMLc.1361G= (p.Arg454=)
c.182-1396C= (n.182-1396C=)
c.1508G= (p.Arg503=)
c.1439G= (p.Arg480=)
c.1430G= (p.Arg477=)
c.215-1396C= (n.215-1396C=)
8g.142912567C>GCA372386052CYP11B2,GMLc.1361G>C (p.Arg454Pro)
c.182-1396C>G (n.182-1396C>G)
c.1508G>C (p.Arg503Pro)
c.1439G>C (p.Arg480Pro)
c.1430G>C (p.Arg477Pro)
c.215-1396C>G (n.215-1396C>G)
8g.142912567C>TCA372386055CYP11B2,GMLc.1361G>A (p.Arg454His)
c.182-1396C>T (n.182-1396C>T)
c.1508G>A (p.Arg503His)
c.1439G>A (p.Arg480His)
c.1430G>A (p.Arg477His)
c.215-1396C>T (n.215-1396C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.142912568G>ACA372386073CYP11B2,GMLc.1360C>T (p.Arg454Cys)
c.182-1395G>A (n.182-1395G>A)
c.1507C>T (p.Arg503Cys)
c.1438C>T (p.Arg480Cys)
c.1429C>T (p.Arg477Cys)
c.215-1395G>A (n.215-1395G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.142912568G>CCA372386063CYP11B2,GMLc.1360C>G (p.Arg454Gly)
c.182-1395G>C (n.182-1395G>C)
c.1507C>G (p.Arg503Gly)
c.1438C>G (p.Arg480Gly)
c.1429C>G (p.Arg477Gly)
c.215-1395G>C (n.215-1395G>C)
8g.142912568G=CA1825514478CYP11B2,GMLc.1360C= (p.Arg454=)
c.182-1395G= (n.182-1395G=)
c.1507C= (p.Arg503=)
c.1438C= (p.Arg480=)
c.1429C= (p.Arg477=)
c.215-1395G= (n.215-1395G=)
8g.142912568G>TCA372386060CYP11B2,GMLc.1360C>A (p.Arg454Ser)
c.182-1395G>T (n.182-1395G>T)
c.1507C>A (p.Arg503Ser)
c.1438C>A (p.Arg480Ser)
c.1429C>A (p.Arg477Ser)
c.215-1395G>T (n.215-1395G>T)
8g.142912569C>ACA463505866CYP11B2,GMLc.1359G>T (p.Arg453=)
c.182-1394C>A (n.182-1394C>A)
c.1506G>T (p.Arg502=)
c.1437G>T (p.Arg479=)
c.1428G>T (p.Arg476=)
c.215-1394C>A (n.215-1394C>A)
8g.142912569C>GCA463505867CYP11B2,GMLc.1359G>C (p.Arg453=)
c.182-1394C>G (n.182-1394C>G)
c.1506G>C (p.Arg502=)
c.1437G>C (p.Arg479=)
c.1428G>C (p.Arg476=)
c.215-1394C>G (n.215-1394C>G)
8g.142912569C>TCA463505868CYP11B2,GMLc.1359G>A (p.Arg453=)
c.182-1394C>T (n.182-1394C>T)
c.1506G>A (p.Arg502=)
c.1437G>A (p.Arg479=)
c.1428G>A (p.Arg476=)
c.215-1394C>T (n.215-1394C>T)
 gnomAD v4 COSMIC
8g.142912570C>ACA372386075CYP11B2,GMLc.1358G>T (p.Arg453Leu)
c.182-1393C>A (n.182-1393C>A)
c.1505G>T (p.Arg502Leu)
c.1436G>T (p.Arg479Leu)
c.1427G>T (p.Arg476Leu)
c.215-1393C>A (n.215-1393C>A)
8g.142912570C=CA1825514479CYP11B2,GMLc.1358G= (p.Arg453=)
c.182-1393C= (n.182-1393C=)
c.1505G= (p.Arg502=)
c.1436G= (p.Arg479=)
c.1427G= (p.Arg476=)
c.215-1393C= (n.215-1393C=)
8g.142912570C>GCA372386076CYP11B2,GMLc.1358G>C (p.Arg453Pro)
c.182-1393C>G (n.182-1393C>G)
c.1505G>C (p.Arg502Pro)
c.1436G>C (p.Arg479Pro)
c.1427G>C (p.Arg476Pro)
c.215-1393C>G (n.215-1393C>G)
8g.142912570C>TCA372386080CYP11B2,GMLc.1358G>A (p.Arg453Gln)
c.182-1393C>T (n.182-1393C>T)
c.1505G>A (p.Arg502Gln)
c.1436G>A (p.Arg479Gln)
c.1427G>A (p.Arg476Gln)
c.215-1393C>T (n.215-1393C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.142912571G>ACA4905834CYP11B2,GMLc.1357C>T (p.Arg453Trp)
c.182-1392G>A (n.182-1392G>A)
c.1504C>T (p.Arg502Trp)
c.1435C>T (p.Arg479Trp)
c.1426C>T (p.Arg476Trp)
c.215-1392G>A (n.215-1392G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142912571G>CCA372386089CYP11B2,GMLc.1357C>G (p.Arg453Gly)
c.182-1392G>C (n.182-1392G>C)
c.1504C>G (p.Arg502Gly)
c.1435C>G (p.Arg479Gly)
c.1426C>G (p.Arg476Gly)
c.215-1392G>C (n.215-1392G>C)
8g.142912571G=CA1825514480CYP11B2,GMLc.1357C= (p.Arg453=)
c.182-1392G= (n.182-1392G=)
c.1504C= (p.Arg502=)
c.1435C= (p.Arg479=)
c.1426C= (p.Arg476=)
c.215-1392G= (n.215-1392G=)
8g.142912571G>TCA463505870CYP11B2,GMLc.1357C>A (p.Arg453=)
c.182-1392G>T (n.182-1392G>T)
c.1504C>A (p.Arg502=)
c.1435C>A (p.Arg479=)
c.1426C>A (p.Arg476=)
c.215-1392G>T (n.215-1392G>T)
 ClinVar gnomAD v4
8g.142912572C>ACA463505871CYP11B2,GMLc.1356G>T (p.Gly452=)
c.182-1391C>A (n.182-1391C>A)
c.1503G>T (p.Gly501=)
c.1434G>T (p.Gly478=)
c.1425G>T (p.Gly475=)
c.215-1391C>A (n.215-1391C>A)
8g.142912572C=CA1825514481CYP11B2,GMLc.1356G= (p.Gly452=)
c.182-1391C= (n.182-1391C=)
c.1503G= (p.Gly501=)
c.1434G= (p.Gly478=)
c.1425G= (p.Gly475=)
c.215-1391C= (n.215-1391C=)
8g.142912572C>GCA463505872CYP11B2,GMLc.1356G>C (p.Gly452=)
c.182-1391C>G (n.182-1391C>G)
c.1503G>C (p.Gly501=)
c.1434G>C (p.Gly478=)
c.1425G>C (p.Gly475=)
c.215-1391C>G (n.215-1391C>G)
8g.142912572C>TCA4905835CYP11B2,GMLc.1356G>A (p.Gly452=)
c.182-1391C>T (n.182-1391C>T)
c.1503G>A (p.Gly501=)
c.1434G>A (p.Gly478=)
c.1425G>A (p.Gly475=)
c.215-1391C>T (n.215-1391C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.142912573C>ACA372386094CYP11B2,GMLc.1355G>T (p.Gly452Val)
c.182-1390C>A (n.182-1390C>A)
c.1502G>T (p.Gly501Val)
c.1433G>T (p.Gly478Val)
c.1424G>T (p.Gly475Val)
c.215-1390C>A (n.215-1390C>A)
 dbSNP gnomAD v4 COSMIC
8g.142912573C=CA1825514482CYP11B2,GMLc.1355G= (p.Gly452=)
c.182-1390C= (n.182-1390C=)
c.1502G= (p.Gly501=)
c.1433G= (p.Gly478=)
c.1424G= (p.Gly475=)
c.215-1390C= (n.215-1390C=)
8g.142912573C>GCA372386096CYP11B2,GMLc.1355G>C (p.Gly452Ala)
c.182-1390C>G (n.182-1390C>G)
c.1502G>C (p.Gly501Ala)
c.1433G>C (p.Gly478Ala)
c.1424G>C (p.Gly475Ala)
c.215-1390C>G (n.215-1390C>G)
 dbSNP
8g.142912573C>TCA187453393CYP11B2,GMLc.1355G>A (p.Gly452Glu)
c.182-1390C>T (n.182-1390C>T)
c.1502G>A (p.Gly501Glu)
c.1433G>A (p.Gly478Glu)
c.1424G>A (p.Gly475Glu)
c.215-1390C>T (n.215-1390C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.142912574C>ACA372386099CYP11B2,GMLc.1354G>T (p.Gly452Trp)
c.182-1389C>A (n.182-1389C>A)
c.1501G>T (p.Gly501Trp)
c.1432G>T (p.Gly478Trp)
c.1423G>T (p.Gly475Trp)
c.215-1389C>A (n.215-1389C>A)
8g.142912574C=CA1825514483CYP11B2,GMLc.1354G= (p.Gly452=)
c.182-1389C= (n.182-1389C=)
c.1501G= (p.Gly501=)
c.1432G= (p.Gly478=)
c.1423G= (p.Gly475=)
c.215-1389C= (n.215-1389C=)
8g.142912574C>GCA372386102CYP11B2,GMLc.1354G>C (p.Gly452Arg)
c.182-1389C>G (n.182-1389C>G)
c.1501G>C (p.Gly501Arg)
c.1432G>C (p.Gly478Arg)
c.1423G>C (p.Gly475Arg)
c.215-1389C>G (n.215-1389C>G)
8g.142912574C>TCA4905836CYP11B2,GMLc.1354G>A (p.Gly452Arg)
c.182-1389C>T (n.182-1389C>T)
c.1501G>A (p.Gly501Arg)
c.1432G>A (p.Gly478Arg)
c.1423G>A (p.Gly475Arg)
c.215-1389C>T (n.215-1389C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912575G>ACA4905837CYP11B2,GMLc.1353C>T (p.Leu451=)
c.182-1388G>A (n.182-1388G>A)
c.1500C>T (p.Leu500=)
c.1431C>T (p.Leu477=)
c.1422C>T (p.Leu474=)
c.215-1388G>A (n.215-1388G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.142912575G>CCA463505874CYP11B2,GMLc.1353C>G (p.Leu451=)
c.182-1388G>C (n.182-1388G>C)
c.1500C>G (p.Leu500=)
c.1431C>G (p.Leu477=)
c.1422C>G (p.Leu474=)
c.215-1388G>C (n.215-1388G>C)
 gnomAD v4
8g.142912575G=CA1825514484CYP11B2,GMLc.1353C= (p.Leu451=)
c.182-1388G= (n.182-1388G=)
c.1500C= (p.Leu500=)
c.1431C= (p.Leu477=)
c.1422C= (p.Leu474=)
c.215-1388G= (n.215-1388G=)
8g.142912575G>TCA463505875CYP11B2,GMLc.1353C>A (p.Leu451=)
c.182-1388G>T (n.182-1388G>T)
c.1500C>A (p.Leu500=)
c.1431C>A (p.Leu477=)
c.1422C>A (p.Leu474=)
c.215-1388G>T (n.215-1388G>T)
8g.142912576A=CA1825514485CYP11B2,GMLc.1352T= (p.Leu451=)
c.182-1387A= (n.182-1387A=)
c.1499T= (p.Leu500=)
c.1430T= (p.Leu477=)
c.1421T= (p.Leu474=)
c.215-1387A= (n.215-1387A=)
8g.142912576A>CCA372386111CYP11B2,GMLc.1352T>G (p.Leu451Arg)
c.182-1387A>C (n.182-1387A>C)
c.1499T>G (p.Leu500Arg)
c.1430T>G (p.Leu477Arg)
c.1421T>G (p.Leu474Arg)
c.215-1387A>C (n.215-1387A>C)
8g.142912576A>GCA372386113CYP11B2,GMLc.1352T>C (p.Leu451Pro)
c.182-1387A>G (n.182-1387A>G)
c.1499T>C (p.Leu500Pro)
c.1430T>C (p.Leu477Pro)
c.1421T>C (p.Leu474Pro)
c.215-1387A>G (n.215-1387A>G)
8g.142912576A>TCA4905838CYP11B2,GMLc.1352T>A (p.Leu451His)
c.182-1387A>T (n.182-1387A>T)
c.1499T>A (p.Leu500His)
c.1430T>A (p.Leu477His)
c.1421T>A (p.Leu474His)
c.215-1387A>T (n.215-1387A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912577G>ACA372386118CYP11B2,GMLc.1351C>T (p.Leu451Phe)
c.182-1386G>A (n.182-1386G>A)
c.1498C>T (p.Leu500Phe)
c.1429C>T (p.Leu477Phe)
c.1420C>T (p.Leu474Phe)
c.215-1386G>A (n.215-1386G>A)
 gnomAD v4 COSMIC
8g.142912577G>CCA372386119CYP11B2,GMLc.1351C>G (p.Leu451Val)
c.182-1386G>C (n.182-1386G>C)
c.1498C>G (p.Leu500Val)
c.1429C>G (p.Leu477Val)
c.1420C>G (p.Leu474Val)
c.215-1386G>C (n.215-1386G>C)
8g.142912577G>TCA372386123CYP11B2,GMLc.1351C>A (p.Leu451Ile)
c.182-1386G>T (n.182-1386G>T)
c.1498C>A (p.Leu500Ile)
c.1429C>A (p.Leu477Ile)
c.1420C>A (p.Leu474Ile)
c.215-1386G>T (n.215-1386G>T)
8g.142912578G>ACA463505876CYP11B2,GMLc.1350C>T (p.Cys450=)
c.182-1385G>A (n.182-1385G>A)
c.1497C>T (p.Cys499=)
c.1428C>T (p.Cys476=)
c.1419C>T (p.Cys473=)
c.215-1385G>A (n.215-1385G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.142912578G>CCA372386125CYP11B2,GMLc.1350C>G (p.Cys450Trp)
c.182-1385G>C (n.182-1385G>C)
c.1497C>G (p.Cys499Trp)
c.1428C>G (p.Cys476Trp)
c.1419C>G (p.Cys473Trp)
c.215-1385G>C (n.215-1385G>C)
8g.142912578G=CA1825514486CYP11B2,GMLc.1350C= (p.Cys450=)
c.182-1385G= (n.182-1385G=)
c.1497C= (p.Cys499=)
c.1428C= (p.Cys476=)
c.1419C= (p.Cys473=)
c.215-1385G= (n.215-1385G=)
8g.142912578G>TCA10581250CYP11B2,GMLc.1350C>A (p.Cys450Ter)
c.182-1385G>T (n.182-1385G>T)
c.1497C>A (p.Cys499Ter)
c.1428C>A (p.Cys476Ter)
c.1419C>A (p.Cys473Ter)
c.215-1385G>T (n.215-1385G>T)
 ClinVar dbSNP gnomAD v4
8g.142912581_142912588delCA2579268375CYP11B2,GMLc.1343_1350del (p.Arg448ProfsTer?)
c.182-1382_182-1375del (n.182-1382_182-1375del)
c.1490_1497del (p.Arg497ProfsTer?)
c.1421_1428del (p.Arg474ProfsTer?)
c.1412_1419del (p.Arg471ProfsTer?)
c.215-1382_215-1375del (n.215-1382_215-1375del)
 ClinVar gnomAD v4
8g.142912579C>ACA372386136CYP11B2,GMLc.1349G>T (p.Cys450Phe)
c.182-1384C>A (n.182-1384C>A)
c.1496G>T (p.Cys499Phe)
c.1427G>T (p.Cys476Phe)
c.1418G>T (p.Cys473Phe)
c.215-1384C>A (n.215-1384C>A)
8g.142912579C>GCA372386130CYP11B2,GMLc.1349G>C (p.Cys450Ser)
c.182-1384C>G (n.182-1384C>G)
c.1496G>C (p.Cys499Ser)
c.1427G>C (p.Cys476Ser)
c.1418G>C (p.Cys473Ser)
c.215-1384C>G (n.215-1384C>G)
 gnomAD v4
8g.142912579C>TCA372386134CYP11B2,GMLc.1349G>A (p.Cys450Tyr)
c.182-1384C>T (n.182-1384C>T)
c.1496G>A (p.Cys499Tyr)
c.1427G>A (p.Cys476Tyr)
c.1418G>A (p.Cys473Tyr)
c.215-1384C>T (n.215-1384C>T)
 gnomAD v4
8g.142912580A>CCA372386140CYP11B2,GMLc.1348T>G (p.Cys450Gly)
c.182-1383A>C (n.182-1383A>C)
c.1495T>G (p.Cys499Gly)
c.1426T>G (p.Cys476Gly)
c.1417T>G (p.Cys473Gly)
c.215-1383A>C (n.215-1383A>C)
8g.142912580A>GCA372386143CYP11B2,GMLc.1348T>C (p.Cys450Arg)
c.182-1383A>G (n.182-1383A>G)
c.1495T>C (p.Cys499Arg)
c.1426T>C (p.Cys476Arg)
c.1417T>C (p.Cys473Arg)
c.215-1383A>G (n.215-1383A>G)
8g.142912580A>TCA372386142CYP11B2,GMLc.1348T>A (p.Cys450Ser)
c.182-1383A>T (n.182-1383A>T)
c.1495T>A (p.Cys499Ser)
c.1426T>A (p.Cys476Ser)
c.1417T>A (p.Cys473Ser)
c.215-1383A>T (n.215-1383A>T)
8g.142912581C>ACA372386144CYP11B2,GMLc.1347G>T (p.Gln449His)
c.182-1382C>A (n.182-1382C>A)
c.1494G>T (p.Gln498His)
c.1425G>T (p.Gln475His)
c.1416G>T (p.Gln472His)
c.215-1382C>A (n.215-1382C>A)
8g.142912581C>GCA372386145CYP11B2,GMLc.1347G>C (p.Gln449His)
c.182-1382C>G (n.182-1382C>G)
c.1494G>C (p.Gln498His)
c.1425G>C (p.Gln475His)
c.1416G>C (p.Gln472His)
c.215-1382C>G (n.215-1382C>G)
8g.142912581C>TCA463505881CYP11B2,GMLc.1347G>A (p.Gln449=)
c.182-1382C>T (n.182-1382C>T)
c.1494G>A (p.Gln498=)
c.1425G>A (p.Gln475=)
c.1416G>A (p.Gln472=)
c.215-1382C>T (n.215-1382C>T)
8g.142912582T>ACA372386147CYP11B2,GMLc.1346A>T (p.Gln449Leu)
c.182-1381T>A (n.182-1381T>A)
c.1493A>T (p.Gln498Leu)
c.1424A>T (p.Gln475Leu)
c.1415A>T (p.Gln472Leu)
c.215-1381T>A (n.215-1381T>A)
8g.142912582T>CCA372386150CYP11B2,GMLc.1346A>G (p.Gln449Arg)
c.182-1381T>C (n.182-1381T>C)
c.1493A>G (p.Gln498Arg)
c.1424A>G (p.Gln475Arg)
c.1415A>G (p.Gln472Arg)
c.215-1381T>C (n.215-1381T>C)
8g.142912582T>GCA372386153CYP11B2,GMLc.1346A>C (p.Gln449Pro)
c.182-1381T>G (n.182-1381T>G)
c.1493A>C (p.Gln498Pro)
c.1424A>C (p.Gln475Pro)
c.1415A>C (p.Gln472Pro)
c.215-1381T>G (n.215-1381T>G)
8g.142912582dupCA2688875957CYP11B2,GMLc.1346dup (p.Cys450ValfsTer?)
c.182-1381dup (n.182-1381dup)
c.1493dup (p.Cys499ValfsTer?)
c.1424dup (p.Cys476ValfsTer?)
c.1415dup (p.Cys473ValfsTer?)
c.215-1381dup (n.215-1381dup)
 gnomAD v4
8g.142912583G>ACA372386158CYP11B2,GMLc.1345C>T (p.Gln449Ter)
c.182-1380G>A (n.182-1380G>A)
c.1492C>T (p.Gln498Ter)
c.1423C>T (p.Gln475Ter)
c.1414C>T (p.Gln472Ter)
c.215-1380G>A (n.215-1380G>A)
8g.142912583G>CCA372386160CYP11B2,GMLc.1345C>G (p.Gln449Glu)
c.182-1380G>C (n.182-1380G>C)
c.1492C>G (p.Gln498Glu)
c.1423C>G (p.Gln475Glu)
c.1414C>G (p.Gln472Glu)
c.215-1380G>C (n.215-1380G>C)
8g.142912583G>TCA372386166CYP11B2,GMLc.1345C>A (p.Gln449Lys)
c.182-1380G>T (n.182-1380G>T)
c.1492C>A (p.Gln498Lys)
c.1423C>A (p.Gln475Lys)
c.1414C>A (p.Gln472Lys)
c.215-1380G>T (n.215-1380G>T)
8g.142912584G>ACA4905839CYP11B2,GMLc.1344C>T (p.Arg448=)
c.182-1379G>A (n.182-1379G>A)
c.1491C>T (p.Arg497=)
c.1422C>T (p.Arg474=)
c.1413C>T (p.Arg471=)
c.215-1379G>A (n.215-1379G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912584G>CCA463505882CYP11B2,GMLc.1344C>G (p.Arg448=)
c.182-1379G>C (n.182-1379G>C)
c.1491C>G (p.Arg497=)
c.1422C>G (p.Arg474=)
c.1413C>G (p.Arg471=)
c.215-1379G>C (n.215-1379G>C)
8g.142912584G=CA1825514487CYP11B2,GMLc.1344C= (p.Arg448=)
c.182-1379G= (n.182-1379G=)
c.1491C= (p.Arg497=)
c.1422C= (p.Arg474=)
c.1413C= (p.Arg471=)
c.215-1379G= (n.215-1379G=)
8g.142912584G>TCA463505883CYP11B2,GMLc.1344C>A (p.Arg448=)
c.182-1379G>T (n.182-1379G>T)
c.1491C>A (p.Arg497=)
c.1422C>A (p.Arg474=)
c.1413C>A (p.Arg471=)
c.215-1379G>T (n.215-1379G>T)
8g.142912585C>ACA372386169CYP11B2,GMLc.1343G>T (p.Arg448Leu)
c.182-1378C>A (n.182-1378C>A)
c.1490G>T (p.Arg497Leu)
c.1421G>T (p.Arg474Leu)
c.1412G>T (p.Arg471Leu)
c.215-1378C>A (n.215-1378C>A)
8g.142912585C=CA1825514488CYP11B2,GMLc.1343G= (p.Arg448=)
c.182-1378C= (n.182-1378C=)
c.1490G= (p.Arg497=)
c.1421G= (p.Arg474=)
c.1412G= (p.Arg471=)
c.215-1378C= (n.215-1378C=)
8g.142912585C>GCA372386170CYP11B2,GMLc.1343G>C (p.Arg448Pro)
c.182-1378C>G (n.182-1378C>G)
c.1490G>C (p.Arg497Pro)
c.1421G>C (p.Arg474Pro)
c.1412G>C (p.Arg471Pro)
c.215-1378C>G (n.215-1378C>G)
8g.142912585C>TCA372386174CYP11B2,GMLc.1343G>A (p.Arg448His)
c.182-1378C>T (n.182-1378C>T)
c.1490G>A (p.Arg497His)
c.1421G>A (p.Arg474His)
c.1412G>A (p.Arg471His)
c.215-1378C>T (n.215-1378C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142912586G>ACA372386184CYP11B2,GMLc.1342C>T (p.Arg448Cys)
c.182-1377G>A (n.182-1377G>A)
c.1489C>T (p.Arg497Cys)
c.1420C>T (p.Arg474Cys)
c.1411C>T (p.Arg471Cys)
c.215-1377G>A (n.215-1377G>A)
 gnomAD v4
8g.142912586G>CCA187453435CYP11B2,GMLc.1342C>G (p.Arg448Gly)
c.182-1377G>C (n.182-1377G>C)
c.1489C>G (p.Arg497Gly)
c.1420C>G (p.Arg474Gly)
c.1411C>G (p.Arg471Gly)
c.215-1377G>C (n.215-1377G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.142912586G=CA1825514489CYP11B2,GMLc.1342C= (p.Arg448=)
c.182-1377G= (n.182-1377G=)
c.1489C= (p.Arg497=)
c.1420C= (p.Arg474=)
c.1411C= (p.Arg471=)
c.215-1377G= (n.215-1377G=)
8g.142912586G>TCA372386180CYP11B2,GMLc.1342C>A (p.Arg448Ser)
c.182-1377G>T (n.182-1377G>T)
c.1489C>A (p.Arg497Ser)
c.1420C>A (p.Arg474Ser)
c.1411C>A (p.Arg471Ser)
c.215-1377G>T (n.215-1377G>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.142912587C>ACA372386187CYP11B2,GMLc.1341G>T (p.Met447Ile)
c.182-1376C>A (n.182-1376C>A)
c.1488G>T (p.Met496Ile)
c.1419G>T (p.Met473Ile)
c.1410G>T (p.Met470Ile)
c.215-1376C>A (n.215-1376C>A)
8g.142912587C=CA1825514490CYP11B2,GMLc.1341G= (p.Met447=)
c.182-1376C= (n.182-1376C=)
c.1488G= (p.Met496=)
c.1419G= (p.Met473=)
c.1410G= (p.Met470=)
c.215-1376C= (n.215-1376C=)
8g.142912587C>GCA372386188CYP11B2,GMLc.1341G>C (p.Met447Ile)
c.182-1376C>G (n.182-1376C>G)
c.1488G>C (p.Met496Ile)
c.1419G>C (p.Met473Ile)
c.1410G>C (p.Met470Ile)
c.215-1376C>G (n.215-1376C>G)
8g.142912587C>TCA4905840CYP11B2,GMLc.1341G>A (p.Met447Ile)
c.182-1376C>T (n.182-1376C>T)
c.1488G>A (p.Met496Ile)
c.1419G>A (p.Met473Ile)
c.1410G>A (p.Met470Ile)
c.215-1376C>T (n.215-1376C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912588A=CA1825514491CYP11B2,GMLc.1340T= (p.Met447=)
c.182-1375A= (n.182-1375A=)
c.1487T= (p.Met496=)
c.1418T= (p.Met473=)
c.1409T= (p.Met470=)
c.215-1375A= (n.215-1375A=)
8g.142912588A>CCA372386190CYP11B2,GMLc.1340T>G (p.Met447Arg)
c.182-1375A>C (n.182-1375A>C)
c.1487T>G (p.Met496Arg)
c.1418T>G (p.Met473Arg)
c.1409T>G (p.Met470Arg)
c.215-1375A>C (n.215-1375A>C)
8g.142912588A>GCA372386193CYP11B2,GMLc.1340T>C (p.Met447Thr)
c.182-1375A>G (n.182-1375A>G)
c.1487T>C (p.Met496Thr)
c.1418T>C (p.Met473Thr)
c.1409T>C (p.Met470Thr)
c.215-1375A>G (n.215-1375A>G)
 dbSNP gnomAD v2 gnomAD v4
8g.142912588A>TCA372386195CYP11B2,GMLc.1340T>A (p.Met447Lys)
c.182-1375A>T (n.182-1375A>T)
c.1487T>A (p.Met496Lys)
c.1418T>A (p.Met473Lys)
c.1409T>A (p.Met470Lys)
c.215-1375A>T (n.215-1375A>T)
 dbSNP gnomAD v3 gnomAD v4
8g.142912589_142912594dupCA2579268376CYP11B2,GMLc.1335_1340dup (p.Gly446_Met447insIleGly)
c.182-1374_182-1369dup (n.182-1374_182-1369dup)
c.1482_1487dup (p.Gly495_Met496insIleGly)
c.1413_1418dup (p.Gly472_Met473insIleGly)
c.1404_1409dup (p.Gly469_Met470insIleGly)
c.215-1374_215-1369dup (n.215-1374_215-1369dup)
8g.142912589T>ACA372386198CYP11B2,GMLc.1339A>T (p.Met447Leu)
c.182-1374T>A (n.182-1374T>A)
c.1486A>T (p.Met496Leu)
c.1417A>T (p.Met473Leu)
c.1408A>T (p.Met470Leu)
c.215-1374T>A (n.215-1374T>A)
8g.142912589T>CCA372386200CYP11B2,GMLc.1339A>G (p.Met447Val)
c.182-1374T>C (n.182-1374T>C)
c.1486A>G (p.Met496Val)
c.1417A>G (p.Met473Val)
c.1408A>G (p.Met470Val)
c.215-1374T>C (n.215-1374T>C)
8g.142912589T>GCA372386202CYP11B2,GMLc.1339A>C (p.Met447Leu)
c.182-1374T>G (n.182-1374T>G)
c.1486A>C (p.Met496Leu)
c.1417A>C (p.Met473Leu)
c.1408A>C (p.Met470Leu)
c.215-1374T>G (n.215-1374T>G)
8g.142912590G>ACA463505886CYP11B2,GMLc.1338C>T (p.Gly446=)
c.182-1373G>A (n.182-1373G>A)
c.1485C>T (p.Gly495=)
c.1416C>T (p.Gly472=)
c.1407C>T (p.Gly469=)
c.215-1373G>A (n.215-1373G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.142912590G>CCA463505888CYP11B2,GMLc.1338C>G (p.Gly446=)
c.182-1373G>C (n.182-1373G>C)
c.1485C>G (p.Gly495=)
c.1416C>G (p.Gly472=)
c.1407C>G (p.Gly469=)
c.215-1373G>C (n.215-1373G>C)
8g.142912590G=CA1825514492CYP11B2,GMLc.1338C= (p.Gly446=)
c.182-1373G= (n.182-1373G=)
c.1485C= (p.Gly495=)
c.1416C= (p.Gly472=)
c.1407C= (p.Gly469=)
c.215-1373G= (n.215-1373G=)
8g.142912590G>TCA463505890CYP11B2,GMLc.1338C>A (p.Gly446=)
c.182-1373G>T (n.182-1373G>T)
c.1485C>A (p.Gly495=)
c.1416C>A (p.Gly472=)
c.1407C>A (p.Gly469=)
c.215-1373G>T (n.215-1373G>T)
8g.142912591C>ACA372386204CYP11B2,GMLc.1337G>T (p.Gly446Val)
c.182-1372C>A (n.182-1372C>A)
c.1484G>T (p.Gly495Val)
c.1415G>T (p.Gly472Val)
c.1406G>T (p.Gly469Val)
c.215-1372C>A (n.215-1372C>A)
8g.142912591C>GCA372386205CYP11B2,GMLc.1337G>C (p.Gly446Ala)
c.182-1372C>G (n.182-1372C>G)
c.1484G>C (p.Gly495Ala)
c.1415G>C (p.Gly472Ala)
c.1406G>C (p.Gly469Ala)
c.215-1372C>G (n.215-1372C>G)
8g.142912591C>TCA372386208CYP11B2,GMLc.1337G>A (p.Gly446Asp)
c.182-1372C>T (n.182-1372C>T)
c.1484G>A (p.Gly495Asp)
c.1415G>A (p.Gly472Asp)
c.1406G>A (p.Gly469Asp)
c.215-1372C>T (n.215-1372C>T)
8g.142912592C>ACA372386216CYP11B2,GMLc.1336G>T (p.Gly446Cys)
c.182-1371C>A (n.182-1371C>A)
c.1483G>T (p.Gly495Cys)
c.1414G>T (p.Gly472Cys)
c.1405G>T (p.Gly469Cys)
c.215-1371C>A (n.215-1371C>A)
8g.142912592C=CA1825514493CYP11B2,GMLc.1336G= (p.Gly446=)
c.182-1371C= (n.182-1371C=)
c.1483G= (p.Gly495=)
c.1414G= (p.Gly472=)
c.1405G= (p.Gly469=)
c.215-1371C= (n.215-1371C=)
8g.142912592C>GCA372386213CYP11B2,GMLc.1336G>C (p.Gly446Arg)
c.182-1371C>G (n.182-1371C>G)
c.1483G>C (p.Gly495Arg)
c.1414G>C (p.Gly472Arg)
c.1405G>C (p.Gly469Arg)
c.215-1371C>G (n.215-1371C>G)
8g.142912592C>TCA372386211CYP11B2,GMLc.1336G>A (p.Gly446Ser)
c.182-1371C>T (n.182-1371C>T)
c.1483G>A (p.Gly495Ser)
c.1414G>A (p.Gly472Ser)
c.1405G>A (p.Gly469Ser)
c.215-1371C>T (n.215-1371C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.142912593A=CA1825514494CYP11B2,GMLc.1335T= (p.Phe445=)
c.182-1370A= (n.182-1370A=)
c.1482T= (p.Phe494=)
c.1413T= (p.Phe471=)
c.1404T= (p.Phe468=)
c.215-1370A= (n.215-1370A=)
8g.142912593A>CCA372386220CYP11B2,GMLc.1335T>G (p.Phe445Leu)
c.182-1370A>C (n.182-1370A>C)
c.1482T>G (p.Phe494Leu)
c.1413T>G (p.Phe471Leu)
c.1404T>G (p.Phe468Leu)
c.215-1370A>C (n.215-1370A>C)
8g.142912593A>GCA4905841CYP11B2,GMLc.1335T>C (p.Phe445=)
c.182-1370A>G (n.182-1370A>G)
c.1482T>C (p.Phe494=)
c.1413T>C (p.Phe471=)
c.1404T>C (p.Phe468=)
c.215-1370A>G (n.215-1370A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912593A>TCA372386219CYP11B2,GMLc.1335T>A (p.Phe445Leu)
c.182-1370A>T (n.182-1370A>T)
c.1482T>A (p.Phe494Leu)
c.1413T>A (p.Phe471Leu)
c.1404T>A (p.Phe468Leu)
c.215-1370A>T (n.215-1370A>T)
8g.142912594A=CA1825514495CYP11B2,GMLc.1334T= (p.Phe445=)
c.182-1369A= (n.182-1369A=)
c.1481T= (p.Phe494=)
c.1412T= (p.Phe471=)
c.1403T= (p.Phe468=)
c.215-1369A= (n.215-1369A=)
8g.142912594A>CCA372386222CYP11B2,GMLc.1334T>G (p.Phe445Cys)
c.182-1369A>C (n.182-1369A>C)
c.1481T>G (p.Phe494Cys)
c.1412T>G (p.Phe471Cys)
c.1403T>G (p.Phe468Cys)
c.215-1369A>C (n.215-1369A>C)
8g.142912594A>GCA4905842CYP11B2,GMLc.1334T>C (p.Phe445Ser)
c.182-1369A>G (n.182-1369A>G)
c.1481T>C (p.Phe494Ser)
c.1412T>C (p.Phe471Ser)
c.1403T>C (p.Phe468Ser)
c.215-1369A>G (n.215-1369A>G)
 ClinVar dbSNP ExAC gnomAD v4
8g.142912594A>TCA372386226CYP11B2,GMLc.1334T>A (p.Phe445Tyr)
c.182-1369A>T (n.182-1369A>T)
c.1481T>A (p.Phe494Tyr)
c.1412T>A (p.Phe471Tyr)
c.1403T>A (p.Phe468Tyr)
c.215-1369A>T (n.215-1369A>T)
8g.142912595A>CCA372386228CYP11B2,GMLc.1333T>G (p.Phe445Val)
c.182-1368A>C (n.182-1368A>C)
c.1480T>G (p.Phe494Val)
c.1411T>G (p.Phe471Val)
c.1402T>G (p.Phe468Val)
c.215-1368A>C (n.215-1368A>C)
8g.142912595A>GCA372386231CYP11B2,GMLc.1333T>C (p.Phe445Leu)
c.182-1368A>G (n.182-1368A>G)
c.1480T>C (p.Phe494Leu)
c.1411T>C (p.Phe471Leu)
c.1402T>C (p.Phe468Leu)
c.215-1368A>G (n.215-1368A>G)
 gnomAD v4
8g.142912595A>TCA372386233CYP11B2,GMLc.1333T>A (p.Phe445Ile)
c.182-1368A>T (n.182-1368A>T)
c.1480T>A (p.Phe494Ile)
c.1411T>A (p.Phe471Ile)
c.1402T>A (p.Phe468Ile)
c.215-1368A>T (n.215-1368A>T)
 gnomAD v4 COSMIC
8g.142912596G>ACA4905843CYP11B2,GMLc.1332C>T (p.Gly444=)
c.182-1367G>A (n.182-1367G>A)
c.1479C>T (p.Gly493=)
c.1410C>T (p.Gly470=)
c.1401C>T (p.Gly467=)
c.215-1367G>A (n.215-1367G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912596G>CCA463505895CYP11B2,GMLc.1332C>G (p.Gly444=)
c.182-1367G>C (n.182-1367G>C)
c.1479C>G (p.Gly493=)
c.1410C>G (p.Gly470=)
c.1401C>G (p.Gly467=)
c.215-1367G>C (n.215-1367G>C)
 ClinVar
8g.142912596G=CA1825514496CYP11B2,GMLc.1332C= (p.Gly444=)
c.182-1367G= (n.182-1367G=)
c.1479C= (p.Gly493=)
c.1410C= (p.Gly470=)
c.1401C= (p.Gly467=)
c.215-1367G= (n.215-1367G=)
8g.142912596G>TCA463505897CYP11B2,GMLc.1332C>A (p.Gly444=)
c.182-1367G>T (n.182-1367G>T)
c.1479C>A (p.Gly493=)
c.1410C>A (p.Gly470=)
c.1401C>A (p.Gly467=)
c.215-1367G>T (n.215-1367G>T)
8g.142912597C>ACA372386237CYP11B2,GMLc.1331G>T (p.Gly444Val)
c.182-1366C>A (n.182-1366C>A)
c.1478G>T (p.Gly493Val)
c.1409G>T (p.Gly470Val)
c.1400G>T (p.Gly467Val)
c.215-1366C>A (n.215-1366C>A)
8g.142912597C>GCA372386239CYP11B2,GMLc.1331G>C (p.Gly444Ala)
c.182-1366C>G (n.182-1366C>G)
c.1478G>C (p.Gly493Ala)
c.1409G>C (p.Gly470Ala)
c.1400G>C (p.Gly467Ala)
c.215-1366C>G (n.215-1366C>G)
8g.142912597C>TCA372386242CYP11B2,GMLc.1331G>A (p.Gly444Asp)
c.182-1366C>T (n.182-1366C>T)
c.1478G>A (p.Gly493Asp)
c.1409G>A (p.Gly470Asp)
c.1400G>A (p.Gly467Asp)
c.215-1366C>T (n.215-1366C>T)
8g.142912598C>ACA372386245CYP11B2,GMLc.1330G>T (p.Gly444Cys)
c.182-1365C>A (n.182-1365C>A)
c.1477G>T (p.Gly493Cys)
c.1408G>T (p.Gly470Cys)
c.1399G>T (p.Gly467Cys)
c.215-1365C>A (n.215-1365C>A)
8g.142912598C=CA1825514497CYP11B2,GMLc.1330G= (p.Gly444=)
c.182-1365C= (n.182-1365C=)
c.1477G= (p.Gly493=)
c.1408G= (p.Gly470=)
c.1399G= (p.Gly467=)
c.215-1365C= (n.215-1365C=)
8g.142912598C>GCA372386246CYP11B2,GMLc.1330G>C (p.Gly444Arg)
c.182-1365C>G (n.182-1365C>G)
c.1477G>C (p.Gly493Arg)
c.1408G>C (p.Gly470Arg)
c.1399G>C (p.Gly467Arg)
c.215-1365C>G (n.215-1365C>G)
8g.142912598C>TCA372386244CYP11B2,GMLc.1330G>A (p.Gly444Ser)
c.182-1365C>T (n.182-1365C>T)
c.1477G>A (p.Gly493Ser)
c.1408G>A (p.Gly470Ser)
c.1399G>A (p.Gly467Ser)
c.215-1365C>T (n.215-1365C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.142912599A=CA1825514498CYP11B2,GMLc.1329T= (p.Phe443=)
c.182-1364A= (n.182-1364A=)
c.1476T= (p.Phe492=)
c.1407T= (p.Phe469=)
c.1398T= (p.Phe466=)
c.215-1364A= (n.215-1364A=)
8g.142912599A>CCA372386247CYP11B2,GMLc.1329T>G (p.Phe443Leu)
c.182-1364A>C (n.182-1364A>C)
c.1476T>G (p.Phe492Leu)
c.1407T>G (p.Phe469Leu)
c.1398T>G (p.Phe466Leu)
c.215-1364A>C (n.215-1364A>C)
8g.142912599A>GCA463505904CYP11B2,GMLc.1329T>C (p.Phe443=)
c.182-1364A>G (n.182-1364A>G)
c.1476T>C (p.Phe492=)
c.1407T>C (p.Phe469=)
c.1398T>C (p.Phe466=)
c.215-1364A>G (n.215-1364A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.142912599A>TCA372386248CYP11B2,GMLc.1329T>A (p.Phe443Leu)
c.182-1364A>T (n.182-1364A>T)
c.1476T>A (p.Phe492Leu)
c.1407T>A (p.Phe469Leu)
c.1398T>A (p.Phe466Leu)
c.215-1364A>T (n.215-1364A>T)
8g.142912600A=CA1825514499CYP11B2,GMLc.1328T= (p.Phe443=)
c.182-1363A= (n.182-1363A=)
c.1475T= (p.Phe492=)
c.1406T= (p.Phe469=)
c.1397T= (p.Phe466=)
c.215-1363A= (n.215-1363A=)
8g.142912600A>CCA372386250CYP11B2,GMLc.1328T>G (p.Phe443Cys)
c.182-1363A>C (n.182-1363A>C)
c.1475T>G (p.Phe492Cys)
c.1406T>G (p.Phe469Cys)
c.1397T>G (p.Phe466Cys)
c.215-1363A>C (n.215-1363A>C)
 dbSNP gnomAD v3 gnomAD v4
8g.142912600A>GCA372386252CYP11B2,GMLc.1328T>C (p.Phe443Ser)
c.182-1363A>G (n.182-1363A>G)
c.1475T>C (p.Phe492Ser)
c.1406T>C (p.Phe469Ser)
c.1397T>C (p.Phe466Ser)
c.215-1363A>G (n.215-1363A>G)
8g.142912600A>TCA372386253CYP11B2,GMLc.1328T>A (p.Phe443Tyr)
c.182-1363A>T (n.182-1363A>T)
c.1475T>A (p.Phe492Tyr)
c.1406T>A (p.Phe469Tyr)
c.1397T>A (p.Phe466Tyr)
c.215-1363A>T (n.215-1363A>T)
8g.142912601A>CCA372386260CYP11B2,GMLc.1327T>G (p.Phe443Val)
c.182-1362A>C (n.182-1362A>C)
c.1474T>G (p.Phe492Val)
c.1405T>G (p.Phe469Val)
c.1396T>G (p.Phe466Val)
c.215-1362A>C (n.215-1362A>C)
8g.142912601A>GCA372386256CYP11B2,GMLc.1327T>C (p.Phe443Leu)
c.182-1362A>G (n.182-1362A>G)
c.1474T>C (p.Phe492Leu)
c.1405T>C (p.Phe469Leu)
c.1396T>C (p.Phe466Leu)
c.215-1362A>G (n.215-1362A>G)
8g.142912601A>TCA372386257CYP11B2,GMLc.1327T>A (p.Phe443Ile)
c.182-1362A>T (n.182-1362A>T)
c.1474T>A (p.Phe492Ile)
c.1405T>A (p.Phe469Ile)
c.1396T>A (p.Phe466Ile)
c.215-1362A>T (n.215-1362A>T)
8g.142912602G>ACA463505909CYP11B2,GMLc.1326C>T (p.Pro442=)
c.182-1361G>A (n.182-1361G>A)
c.1473C>T (p.Pro491=)
c.1404C>T (p.Pro468=)
c.1395C>T (p.Pro465=)
c.215-1361G>A (n.215-1361G>A)
 ClinVar dbSNP gnomAD v4
8g.142912602G>CCA463505910CYP11B2,GMLc.1326C>G (p.Pro442=)
c.182-1361G>C (n.182-1361G>C)
c.1473C>G (p.Pro491=)
c.1404C>G (p.Pro468=)
c.1395C>G (p.Pro465=)
c.215-1361G>C (n.215-1361G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.142912602G=CA1825514500CYP11B2,GMLc.1326C= (p.Pro442=)
c.182-1361G= (n.182-1361G=)
c.1473C= (p.Pro491=)
c.1404C= (p.Pro468=)
c.1395C= (p.Pro465=)
c.215-1361G= (n.215-1361G=)
8g.142912602G>TCA463505913CYP11B2,GMLc.1326C>A (p.Pro442=)
c.182-1361G>T (n.182-1361G>T)
c.1473C>A (p.Pro491=)
c.1404C>A (p.Pro468=)
c.1395C>A (p.Pro465=)
c.215-1361G>T (n.215-1361G>T)
8g.142912603G>ACA372386261CYP11B2,GMLc.1325C>T (p.Pro442Leu)
c.182-1360G>A (n.182-1360G>A)
c.1472C>T (p.Pro491Leu)
c.1403C>T (p.Pro468Leu)
c.1394C>T (p.Pro465Leu)
c.215-1360G>A (n.215-1360G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.142912603G>CCA372386263CYP11B2,GMLc.1325C>G (p.Pro442Arg)
c.182-1360G>C (n.182-1360G>C)
c.1472C>G (p.Pro491Arg)
c.1403C>G (p.Pro468Arg)
c.1394C>G (p.Pro465Arg)
c.215-1360G>C (n.215-1360G>C)
8g.142912603G=CA1825514501CYP11B2,GMLc.1325C= (p.Pro442=)
c.182-1360G= (n.182-1360G=)
c.1472C= (p.Pro491=)
c.1403C= (p.Pro468=)
c.1394C= (p.Pro465=)
c.215-1360G= (n.215-1360G=)
8g.142912603G>TCA372386265CYP11B2,GMLc.1325C>A (p.Pro442His)
c.182-1360G>T (n.182-1360G>T)
c.1472C>A (p.Pro491His)
c.1403C>A (p.Pro468His)
c.1394C>A (p.Pro465His)
c.215-1360G>T (n.215-1360G>T)
8g.142912604G>ACA372386268CYP11B2,GMLc.1324C>T (p.Pro442Ser)
c.182-1359G>A (n.182-1359G>A)
c.1471C>T (p.Pro491Ser)
c.1402C>T (p.Pro468Ser)
c.1393C>T (p.Pro465Ser)
c.215-1359G>A (n.215-1359G>A)
8g.142912604G>CCA372386270CYP11B2,GMLc.1324C>G (p.Pro442Ala)
c.182-1359G>C (n.182-1359G>C)
c.1471C>G (p.Pro491Ala)
c.1402C>G (p.Pro468Ala)
c.1393C>G (p.Pro465Ala)
c.215-1359G>C (n.215-1359G>C)
8g.142912604G>TCA372386278CYP11B2,GMLc.1324C>A (p.Pro442Thr)
c.182-1359G>T (n.182-1359G>T)
c.1471C>A (p.Pro491Thr)
c.1402C>A (p.Pro468Thr)
c.1393C>A (p.Pro465Thr)
c.215-1359G>T (n.215-1359G>T)
8g.142912605C>ACA463505916CYP11B2,GMLc.1323G>T (p.Val441=)
c.182-1358C>A (n.182-1358C>A)
c.1470G>T (p.Val490=)
c.1401G>T (p.Val467=)
c.1392G>T (p.Val464=)
c.215-1358C>A (n.215-1358C>A)
8g.142912605C=CA1825514502CYP11B2,GMLc.1323G= (p.Val441=)
c.182-1358C= (n.182-1358C=)
c.1470G= (p.Val490=)
c.1401G= (p.Val467=)
c.1392G= (p.Val464=)
c.215-1358C= (n.215-1358C=)
8g.142912605C>GCA463505917CYP11B2,GMLc.1323G>C (p.Val441=)
c.182-1358C>G (n.182-1358C>G)
c.1470G>C (p.Val490=)
c.1401G>C (p.Val467=)
c.1392G>C (p.Val464=)
c.215-1358C>G (n.215-1358C>G)
8g.142912605C>TCA463505918CYP11B2,GMLc.1323G>A (p.Val441=)
c.182-1358C>T (n.182-1358C>T)
c.1470G>A (p.Val490=)
c.1401G>A (p.Val467=)
c.1392G>A (p.Val464=)
c.215-1358C>T (n.215-1358C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142912606delCA2579268377CYP11B2,GMLc.1322del (p.Val441GlyfsTer28)
c.182-1357del (n.182-1357del)
c.1469del (p.Val490GlyfsTer28)
c.1400del (p.Val467GlyfsTer28)
c.1391del (p.Val464GlyfsTer28)
c.215-1357del (n.215-1357del)
 gnomAD v4
8g.142912606A>CCA372386283CYP11B2,GMLc.1322T>G (p.Val441Gly)
c.182-1357A>C (n.182-1357A>C)
c.1469T>G (p.Val490Gly)
c.1400T>G (p.Val467Gly)
c.1391T>G (p.Val464Gly)
c.215-1357A>C (n.215-1357A>C)
8g.142912606A>GCA372386284CYP11B2,GMLc.1322T>C (p.Val441Ala)
c.182-1357A>G (n.182-1357A>G)
c.1469T>C (p.Val490Ala)
c.1400T>C (p.Val467Ala)
c.1391T>C (p.Val464Ala)
c.215-1357A>G (n.215-1357A>G)
8g.142912606A>TCA372386281CYP11B2,GMLc.1322T>A (p.Val441Glu)
c.182-1357A>T (n.182-1357A>T)
c.1469T>A (p.Val490Glu)
c.1400T>A (p.Val467Glu)
c.1391T>A (p.Val464Glu)
c.215-1357A>T (n.215-1357A>T)
8g.142912607C>ACA372386291CYP11B2,GMLc.1321G>T (p.Val441Leu)
c.182-1356C>A (n.182-1356C>A)
c.1468G>T (p.Val490Leu)
c.1399G>T (p.Val467Leu)
c.1390G>T (p.Val464Leu)
c.215-1356C>A (n.215-1356C>A)
8g.142912607C=CA1825514503CYP11B2,GMLc.1321G= (p.Val441=)
c.182-1356C= (n.182-1356C=)
c.1468G= (p.Val490=)
c.1399G= (p.Val467=)
c.1390G= (p.Val464=)
c.215-1356C= (n.215-1356C=)
8g.142912607C>GCA372386293CYP11B2,GMLc.1321G>C (p.Val441Leu)
c.182-1356C>G (n.182-1356C>G)
c.1468G>C (p.Val490Leu)
c.1399G>C (p.Val467Leu)
c.1390G>C (p.Val464Leu)
c.215-1356C>G (n.215-1356C>G)
8g.142912607C>TCA372386296CYP11B2,GMLc.1321G>A (p.Val441Met)
c.182-1356C>T (n.182-1356C>T)
c.1468G>A (p.Val490Met)
c.1399G>A (p.Val467Met)
c.1390G>A (p.Val464Met)
c.215-1356C>T (n.215-1356C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.142912608G>ACA463505922CYP11B2,GMLc.1320C>T (p.His440=)
c.182-1355G>A (n.182-1355G>A)
c.1467C>T (p.His489=)
c.1398C>T (p.His466=)
c.1389C>T (p.His463=)
c.215-1355G>A (n.215-1355G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142912608G>CCA372386298CYP11B2,GMLc.1320C>G (p.His440Gln)
c.182-1355G>C (n.182-1355G>C)
c.1467C>G (p.His489Gln)
c.1398C>G (p.His466Gln)
c.1389C>G (p.His463Gln)
c.215-1355G>C (n.215-1355G>C)
 dbSNP gnomAD v4
8g.142912608G=CA1825514504CYP11B2,GMLc.1320C= (p.His440=)
c.182-1355G= (n.182-1355G=)
c.1467C= (p.His489=)
c.1398C= (p.His466=)
c.1389C= (p.His463=)
c.215-1355G= (n.215-1355G=)
8g.142912608G>TCA372386299CYP11B2,GMLc.1320C>A (p.His440Gln)
c.182-1355G>T (n.182-1355G>T)
c.1467C>A (p.His489Gln)
c.1398C>A (p.His466Gln)
c.1389C>A (p.His463Gln)
c.215-1355G>T (n.215-1355G>T)
8g.142912609T>ACA372386300CYP11B2,GMLc.1319A>T (p.His440Leu)
c.182-1354T>A (n.182-1354T>A)
c.1466A>T (p.His489Leu)
c.1397A>T (p.His466Leu)
c.1388A>T (p.His463Leu)
c.215-1354T>A (n.215-1354T>A)
8g.142912609T>CCA372386301CYP11B2,GMLc.1319A>G (p.His440Arg)
c.182-1354T>C (n.182-1354T>C)
c.1466A>G (p.His489Arg)
c.1397A>G (p.His466Arg)
c.1388A>G (p.His463Arg)
c.215-1354T>C (n.215-1354T>C)
8g.142912609T>GCA372386302CYP11B2,GMLc.1319A>C (p.His440Pro)
c.182-1354T>G (n.182-1354T>G)
c.1466A>C (p.His489Pro)
c.1397A>C (p.His466Pro)
c.1388A>C (p.His463Pro)
c.215-1354T>G (n.215-1354T>G)
 dbSNP
8g.142912609T=CA1825514505CYP11B2,GMLc.1319A= (p.His440=)
c.182-1354T= (n.182-1354T=)
c.1466A= (p.His489=)
c.1397A= (p.His466=)
c.1388A= (p.His463=)
c.215-1354T= (n.215-1354T=)
8g.142912610G>ACA372386305CYP11B2,GMLc.1318C>T (p.His440Tyr)
c.182-1353G>A (n.182-1353G>A)
c.1465C>T (p.His489Tyr)
c.1396C>T (p.His466Tyr)
c.1387C>T (p.His463Tyr)
c.215-1353G>A (n.215-1353G>A)
8g.142912610G>CCA372386308CYP11B2,GMLc.1318C>G (p.His440Asp)
c.182-1353G>C (n.182-1353G>C)
c.1465C>G (p.His489Asp)
c.1396C>G (p.His466Asp)
c.1387C>G (p.His463Asp)
c.215-1353G>C (n.215-1353G>C)
8g.142912610G>TCA372386310CYP11B2,GMLc.1318C>A (p.His440Asn)
c.182-1353G>T (n.182-1353G>T)
c.1465C>A (p.His489Asn)
c.1396C>A (p.His466Asn)
c.1387C>A (p.His463Asn)
c.215-1353G>T (n.215-1353G>T)
8g.142912611G>ACA463505924CYP11B2,GMLc.1317C>T (p.His439=)
c.182-1352G>A (n.182-1352G>A)
c.1464C>T (p.His488=)
c.1395C>T (p.His465=)
c.1386C>T (p.His462=)
c.215-1352G>A (n.215-1352G>A)
 ClinVar dbSNP gnomAD v4
8g.142912611G>CCA372386312CYP11B2,GMLc.1317C>G (p.His439Gln)
c.182-1352G>C (n.182-1352G>C)
c.1464C>G (p.His488Gln)
c.1395C>G (p.His465Gln)
c.1386C>G (p.His462Gln)
c.215-1352G>C (n.215-1352G>C)
8g.142912611G>TCA372386315CYP11B2,GMLc.1317C>A (p.His439Gln)
c.182-1352G>T (n.182-1352G>T)
c.1464C>A (p.His488Gln)
c.1395C>A (p.His465Gln)
c.1386C>A (p.His462Gln)
c.215-1352G>T (n.215-1352G>T)
8g.142912612T>ACA372386325CYP11B2,GMLc.1316A>T (p.His439Leu)
c.182-1351T>A (n.182-1351T>A)
c.1463A>T (p.His488Leu)
c.1394A>T (p.His465Leu)
c.1385A>T (p.His462Leu)
c.215-1351T>A (n.215-1351T>A)
8g.142912612T>CCA372386324CYP11B2,GMLc.1316A>G (p.His439Arg)
c.182-1351T>C (n.182-1351T>C)
c.1463A>G (p.His488Arg)
c.1394A>G (p.His465Arg)
c.1385A>G (p.His462Arg)
c.215-1351T>C (n.215-1351T>C)
8g.142912612T>GCA372386319CYP11B2,GMLc.1316A>C (p.His439Pro)
c.182-1351T>G (n.182-1351T>G)
c.1463A>C (p.His488Pro)
c.1394A>C (p.His465Pro)
c.1385A>C (p.His462Pro)
c.215-1351T>G (n.215-1351T>G)
8g.142912613G>ACA4905844CYP11B2,GMLc.1315C>T (p.His439Tyr)
c.182-1350G>A (n.182-1350G>A)
c.1462C>T (p.His488Tyr)
c.1393C>T (p.His465Tyr)
c.1384C>T (p.His462Tyr)
c.215-1350G>A (n.215-1350G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912613G>CCA372386337CYP11B2,GMLc.1315C>G (p.His439Asp)
c.182-1350G>C (n.182-1350G>C)
c.1462C>G (p.His488Asp)
c.1393C>G (p.His465Asp)
c.1384C>G (p.His462Asp)
c.215-1350G>C (n.215-1350G>C)
8g.142912613G=CA1825514506CYP11B2,GMLc.1315C= (p.His439=)
c.182-1350G= (n.182-1350G=)
c.1462C= (p.His488=)
c.1393C= (p.His465=)
c.1384C= (p.His462=)
c.215-1350G= (n.215-1350G=)
8g.142912613G>TCA372386340CYP11B2,GMLc.1315C>A (p.His439Asn)
c.182-1350G>T (n.182-1350G>T)
c.1462C>A (p.His488Asn)
c.1393C>A (p.His465Asn)
c.1384C>A (p.His462Asn)
c.215-1350G>T (n.215-1350G>T)
8g.142912614G>ACA4905845CYP11B2,GMLc.1314C>T (p.Phe438=)
c.182-1349G>A (n.182-1349G>A)
c.1461C>T (p.Phe487=)
c.1392C>T (p.Phe464=)
c.1383C>T (p.Phe461=)
c.215-1349G>A (n.215-1349G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912614G>CCA372386345CYP11B2,GMLc.1314C>G (p.Phe438Leu)
c.182-1349G>C (n.182-1349G>C)
c.1461C>G (p.Phe487Leu)
c.1392C>G (p.Phe464Leu)
c.1383C>G (p.Phe461Leu)
c.215-1349G>C (n.215-1349G>C)
8g.142912614G=CA1825514507CYP11B2,GMLc.1314C= (p.Phe438=)
c.182-1349G= (n.182-1349G=)
c.1461C= (p.Phe487=)
c.1392C= (p.Phe464=)
c.1383C= (p.Phe461=)
c.215-1349G= (n.215-1349G=)
8g.142912614G>TCA372386346CYP11B2,GMLc.1314C>A (p.Phe438Leu)
c.182-1349G>T (n.182-1349G>T)
c.1461C>A (p.Phe487Leu)
c.1392C>A (p.Phe464Leu)
c.1383C>A (p.Phe461Leu)
c.215-1349G>T (n.215-1349G>T)
8g.142912615A>CCA372386350CYP11B2,GMLc.1313T>G (p.Phe438Cys)
c.182-1348A>C (n.182-1348A>C)
c.1460T>G (p.Phe487Cys)
c.1391T>G (p.Phe464Cys)
c.1382T>G (p.Phe461Cys)
c.215-1348A>C (n.215-1348A>C)
 gnomAD v4
8g.142912615A>GCA372386353CYP11B2,GMLc.1313T>C (p.Phe438Ser)
c.182-1348A>G (n.182-1348A>G)
c.1460T>C (p.Phe487Ser)
c.1391T>C (p.Phe464Ser)
c.1382T>C (p.Phe461Ser)
c.215-1348A>G (n.215-1348A>G)
8g.142912615A>TCA372386356CYP11B2,GMLc.1313T>A (p.Phe438Tyr)
c.182-1348A>T (n.182-1348A>T)
c.1460T>A (p.Phe487Tyr)
c.1391T>A (p.Phe464Tyr)
c.1382T>A (p.Phe461Tyr)
c.215-1348A>T (n.215-1348A>T)
8g.142912616A>CCA372386357CYP11B2,GMLc.1312T>G (p.Phe438Val)
c.182-1347A>C (n.182-1347A>C)
c.1459T>G (p.Phe487Val)
c.1390T>G (p.Phe464Val)
c.1381T>G (p.Phe461Val)
c.215-1347A>C (n.215-1347A>C)
8g.142912616A>GCA372386360CYP11B2,GMLc.1312T>C (p.Phe438Leu)
c.182-1347A>G (n.182-1347A>G)
c.1459T>C (p.Phe487Leu)
c.1390T>C (p.Phe464Leu)
c.1381T>C (p.Phe461Leu)
c.215-1347A>G (n.215-1347A>G)
8g.142912616A>TCA372386362CYP11B2,GMLc.1312T>A (p.Phe438Ile)
c.182-1347A>T (n.182-1347A>T)
c.1459T>A (p.Phe487Ile)
c.1390T>A (p.Phe464Ile)
c.1381T>A (p.Phe461Ile)
c.215-1347A>T (n.215-1347A>T)
8g.142912617G>ACA463505930CYP11B2,GMLc.1311C>T (p.Asn437=)
c.182-1346G>A (n.182-1346G>A)
c.1458C>T (p.Asn486=)
c.1389C>T (p.Asn463=)
c.1380C>T (p.Asn460=)
c.215-1346G>A (n.215-1346G>A)
 dbSNP gnomAD v4
8g.142912617G>CCA372386365CYP11B2,GMLc.1311C>G (p.Asn437Lys)
c.182-1346G>C (n.182-1346G>C)
c.1458C>G (p.Asn486Lys)
c.1389C>G (p.Asn463Lys)
c.1380C>G (p.Asn460Lys)
c.215-1346G>C (n.215-1346G>C)
8g.142912617G=CA1825514508CYP11B2,GMLc.1311C= (p.Asn437=)
c.182-1346G= (n.182-1346G=)
c.1458C= (p.Asn486=)
c.1389C= (p.Asn463=)
c.1380C= (p.Asn460=)
c.215-1346G= (n.215-1346G=)
8g.142912617G>TCA372386368CYP11B2,GMLc.1311C>A (p.Asn437Lys)
c.182-1346G>T (n.182-1346G>T)
c.1458C>A (p.Asn486Lys)
c.1389C>A (p.Asn463Lys)
c.1380C>A (p.Asn460Lys)
c.215-1346G>T (n.215-1346G>T)
 dbSNP gnomAD v4
8g.142912618T>ACA372386373CYP11B2,GMLc.1310A>T (p.Asn437Ile)
c.182-1345T>A (n.182-1345T>A)
c.1457A>T (p.Asn486Ile)
c.1388A>T (p.Asn463Ile)
c.1379A>T (p.Asn460Ile)
c.215-1345T>A (n.215-1345T>A)
8g.142912618T>CCA372386378CYP11B2,GMLc.1310A>G (p.Asn437Ser)
c.182-1345T>C (n.182-1345T>C)
c.1457A>G (p.Asn486Ser)
c.1388A>G (p.Asn463Ser)
c.1379A>G (p.Asn460Ser)
c.215-1345T>C (n.215-1345T>C)
 dbSNP
8g.142912618T>GCA372386371CYP11B2,GMLc.1310A>C (p.Asn437Thr)
c.182-1345T>G (n.182-1345T>G)
c.1457A>C (p.Asn486Thr)
c.1388A>C (p.Asn463Thr)
c.1379A>C (p.Asn460Thr)
c.215-1345T>G (n.215-1345T>G)
 dbSNP
8g.142912618T=CA1825514509CYP11B2,GMLc.1310A= (p.Asn437=)
c.182-1345T= (n.182-1345T=)
c.1457A= (p.Asn486=)
c.1388A= (p.Asn463=)
c.1379A= (p.Asn460=)
c.215-1345T= (n.215-1345T=)
8g.142912619T>ACA372386380CYP11B2,GMLc.1309A>T (p.Asn437Tyr)
c.182-1344T>A (n.182-1344T>A)
c.1456A>T (p.Asn486Tyr)
c.1387A>T (p.Asn463Tyr)
c.1378A>T (p.Asn460Tyr)
c.215-1344T>A (n.215-1344T>A)
8g.142912619T>CCA372386381CYP11B2,GMLc.1309A>G (p.Asn437Asp)
c.182-1344T>C (n.182-1344T>C)
c.1456A>G (p.Asn486Asp)
c.1387A>G (p.Asn463Asp)
c.1378A>G (p.Asn460Asp)
c.215-1344T>C (n.215-1344T>C)
8g.142912619T>GCA372386384CYP11B2,GMLc.1309A>C (p.Asn437His)
c.182-1344T>G (n.182-1344T>G)
c.1456A>C (p.Asn486His)
c.1387A>C (p.Asn463His)
c.1378A>C (p.Asn460His)
c.215-1344T>G (n.215-1344T>G)
8g.142912620C>ACA372386385CYP11B2,GMLc.1308G>T (p.Arg436Ser)
c.182-1343C>A (n.182-1343C>A)
c.1455G>T (p.Arg485Ser)
c.1386G>T (p.Arg462Ser)
c.1377G>T (p.Arg459Ser)
c.215-1343C>A (n.215-1343C>A)
8g.142912620C>GCA372386386CYP11B2,GMLc.1308G>C (p.Arg436Ser)
c.182-1343C>G (n.182-1343C>G)
c.1455G>C (p.Arg485Ser)
c.1386G>C (p.Arg462Ser)
c.1377G>C (p.Arg459Ser)
c.215-1343C>G (n.215-1343C>G)
8g.142912620C>TCA463505938CYP11B2,GMLc.1308G>A (p.Arg436=)
c.182-1343C>T (n.182-1343C>T)
c.1455G>A (p.Arg485=)
c.1386G>A (p.Arg462=)
c.1377G>A (p.Arg459=)
c.215-1343C>T (n.215-1343C>T)
8g.142912621C>ACA372386387CYP11B2,GMLc.1307G>T (p.Arg436Met)
c.182-1342C>A (n.182-1342C>A)
c.1454G>T (p.Arg485Met)
c.1385G>T (p.Arg462Met)
c.1376G>T (p.Arg459Met)
c.215-1342C>A (n.215-1342C>A)
8g.142912621C>GCA372386389CYP11B2,GMLc.1307G>C (p.Arg436Thr)
c.182-1342C>G (n.182-1342C>G)
c.1454G>C (p.Arg485Thr)
c.1385G>C (p.Arg462Thr)
c.1376G>C (p.Arg459Thr)
c.215-1342C>G (n.215-1342C>G)
8g.142912621C>TCA372386390CYP11B2,GMLc.1307G>A (p.Arg436Lys)
c.182-1342C>T (n.182-1342C>T)
c.1454G>A (p.Arg485Lys)
c.1385G>A (p.Arg462Lys)
c.1376G>A (p.Arg459Lys)
c.215-1342C>T (n.215-1342C>T)
8g.142912622T>ACA372386393CYP11B2,GMLc.1306A>T (p.Arg436Trp)
c.182-1341T>A (n.182-1341T>A)
c.1453A>T (p.Arg485Trp)
c.1384A>T (p.Arg462Trp)
c.1375A>T (p.Arg459Trp)
c.215-1341T>A (n.215-1341T>A)
8g.142912622T>CCA372386396CYP11B2,GMLc.1306A>G (p.Arg436Gly)
c.182-1341T>C (n.182-1341T>C)
c.1453A>G (p.Arg485Gly)
c.1384A>G (p.Arg462Gly)
c.1375A>G (p.Arg459Gly)
c.215-1341T>C (n.215-1341T>C)
 gnomAD v4
8g.142912622T>GCA463505942CYP11B2,GMLc.1306A>C (p.Arg436=)
c.182-1341T>G (n.182-1341T>G)
c.1453A>C (p.Arg485=)
c.1384A>C (p.Arg462=)
c.1375A>C (p.Arg459=)
c.215-1341T>G (n.215-1341T>G)
8g.142912623G>ACA463505943CYP11B2,GMLc.1305C>T (p.Gly435=)
c.182-1340G>A (n.182-1340G>A)
c.1452C>T (p.Gly484=)
c.1383C>T (p.Gly461=)
c.1374C>T (p.Gly458=)
c.215-1340G>A (n.215-1340G>A)
 ClinVar
8g.142912623G>CCA463505944CYP11B2,GMLc.1305C>G (p.Gly435=)
c.182-1340G>C (n.182-1340G>C)
c.1452C>G (p.Gly484=)
c.1383C>G (p.Gly461=)
c.1374C>G (p.Gly458=)
c.215-1340G>C (n.215-1340G>C)
8g.142912623G>TCA463505945CYP11B2,GMLc.1305C>A (p.Gly435=)
c.182-1340G>T (n.182-1340G>T)
c.1452C>A (p.Gly484=)
c.1383C>A (p.Gly461=)
c.1374C>A (p.Gly458=)
c.215-1340G>T (n.215-1340G>T)
 COSMIC
8g.142912624C>ACA372386399CYP11B2,GMLc.1304G>T (p.Gly435Val)
c.182-1339C>A (n.182-1339C>A)
c.1451G>T (p.Gly484Val)
c.1382G>T (p.Gly461Val)
c.1373G>T (p.Gly458Val)
c.215-1339C>A (n.215-1339C>A)
8g.142912624C>GCA372386403CYP11B2,GMLc.1304G>C (p.Gly435Ala)
c.182-1339C>G (n.182-1339C>G)
c.1451G>C (p.Gly484Ala)
c.1382G>C (p.Gly461Ala)
c.1373G>C (p.Gly458Ala)
c.215-1339C>G (n.215-1339C>G)
8g.142912624C>TCA372386408CYP11B2,GMLc.1304G>A (p.Gly435Asp)
c.182-1339C>T (n.182-1339C>T)
c.1451G>A (p.Gly484Asp)
c.1382G>A (p.Gly461Asp)
c.1373G>A (p.Gly458Asp)
c.215-1339C>T (n.215-1339C>T)
8g.142912625C>ACA372386410CYP11B2,GMLc.1303G>T (p.Gly435Cys)
c.182-1338C>A (n.182-1338C>A)
c.1450G>T (p.Gly484Cys)
c.1381G>T (p.Gly461Cys)
c.1372G>T (p.Gly458Cys)
c.215-1338C>A (n.215-1338C>A)
8g.142912625C=CA1825514510CYP11B2,GMLc.1303G= (p.Gly435=)
c.182-1338C= (n.182-1338C=)
c.1450G= (p.Gly484=)
c.1381G= (p.Gly461=)
c.1372G= (p.Gly458=)
c.215-1338C= (n.215-1338C=)
8g.142912625C>GCA372386414CYP11B2,GMLc.1303G>C (p.Gly435Arg)
c.182-1338C>G (n.182-1338C>G)
c.1450G>C (p.Gly484Arg)
c.1381G>C (p.Gly461Arg)
c.1372G>C (p.Gly458Arg)
c.215-1338C>G (n.215-1338C>G)
8g.142912625C>TCA4905846CYP11B2,GMLc.1303G>A (p.Gly435Ser)
c.182-1338C>T (n.182-1338C>T)
c.1450G>A (p.Gly484Ser)
c.1381G>A (p.Gly461Ser)
c.1372G>A (p.Gly458Ser)
c.215-1338C>T (n.215-1338C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912625_142912626delinsTACA2573142868CYP11B2,GMLc.1302_1303delinsTA (p.Gly435Ser)
c.182-1338_182-1337delinsTA (n.182-1338_182-1337delinsTA)
c.1449_1450delinsTA (p.Gly484Ser)
c.1380_1381delinsTA (p.Gly461Ser)
c.1371_1372delinsTA (p.Gly458Ser)
c.215-1338_215-1337delinsTA (n.215-1338_215-1337delinsTA)
 ClinVar dbSNP
8g.142912626G>ACA4905847CYP11B2,GMLc.1302C>T (p.Ser434=)
c.182-1337G>A (n.182-1337G>A)
c.1449C>T (p.Ser483=)
c.1380C>T (p.Ser460=)
c.1371C>T (p.Ser457=)
c.215-1337G>A (n.215-1337G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912626G>CCA463505948CYP11B2,GMLc.1302C>G (p.Ser434=)
c.182-1337G>C (n.182-1337G>C)
c.1449C>G (p.Ser483=)
c.1380C>G (p.Ser460=)
c.1371C>G (p.Ser457=)
c.215-1337G>C (n.215-1337G>C)
 dbSNP gnomAD v4
8g.142912626G=CA1825514511CYP11B2,GMLc.1302C= (p.Ser434=)
c.182-1337G= (n.182-1337G=)
c.1449C= (p.Ser483=)
c.1380C= (p.Ser460=)
c.1371C= (p.Ser457=)
c.215-1337G= (n.215-1337G=)
8g.142912626G>TCA463505949CYP11B2,GMLc.1302C>A (p.Ser434=)
c.182-1337G>T (n.182-1337G>T)
c.1449C>A (p.Ser483=)
c.1380C>A (p.Ser460=)
c.1371C>A (p.Ser457=)
c.215-1337G>T (n.215-1337G>T)
8g.142912627G>ACA4905849CYP11B2,GMLc.1301C>T (p.Ser434Phe)
c.182-1336G>A (n.182-1336G>A)
c.1448C>T (p.Ser483Phe)
c.1379C>T (p.Ser460Phe)
c.1370C>T (p.Ser457Phe)
c.215-1336G>A (n.215-1336G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142912627G>CCA372386418CYP11B2,GMLc.1301C>G (p.Ser434Cys)
c.182-1336G>C (n.182-1336G>C)
c.1448C>G (p.Ser483Cys)
c.1379C>G (p.Ser460Cys)
c.1370C>G (p.Ser457Cys)
c.215-1336G>C (n.215-1336G>C)
8g.142912627G=CA1825514512CYP11B2,GMLc.1301C= (p.Ser434=)
c.182-1336G= (n.182-1336G=)
c.1448C= (p.Ser483=)
c.1379C= (p.Ser460=)
c.1370C= (p.Ser457=)
c.215-1336G= (n.215-1336G=)
8g.142912627G>TCA4905848CYP11B2,GMLc.1301C>A (p.Ser434Tyr)
c.182-1336G>T (n.182-1336G>T)
c.1448C>A (p.Ser483Tyr)
c.1379C>A (p.Ser460Tyr)
c.1370C>A (p.Ser457Tyr)
c.215-1336G>T (n.215-1336G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.142912628A=CA1825514513CYP11B2,GMLc.1300T= (p.Ser434=)
c.182-1335A= (n.182-1335A=)
c.1447T= (p.Ser483=)
c.1378T= (p.Ser460=)
c.1369T= (p.Ser457=)
c.215-1335A= (n.215-1335A=)
8g.142912628A>CCA372386424CYP11B2,GMLc.1300T>G (p.Ser434Ala)
c.182-1335A>C (n.182-1335A>C)
c.1447T>G (p.Ser483Ala)
c.1378T>G (p.Ser460Ala)
c.1369T>G (p.Ser457Ala)
c.215-1335A>C (n.215-1335A>C)
8g.142912628A>GCA372386426CYP11B2,GMLc.1300T>C (p.Ser434Pro)
c.182-1335A>G (n.182-1335A>G)
c.1447T>C (p.Ser483Pro)
c.1378T>C (p.Ser460Pro)
c.1369T>C (p.Ser457Pro)
c.215-1335A>G (n.215-1335A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142912628A>TCA372386429CYP11B2,GMLc.1300T>A (p.Ser434Thr)
c.182-1335A>T (n.182-1335A>T)
c.1447T>A (p.Ser483Thr)
c.1378T>A (p.Ser460Thr)
c.1369T>A (p.Ser457Thr)
c.215-1335A>T (n.215-1335A>T)
8g.142912629G>ACA463505955CYP11B2,GMLc.1299C>T (p.Gly433=)
c.182-1334G>A (n.182-1334G>A)
c.1446C>T (p.Gly482=)
c.1377C>T (p.Gly459=)
c.1368C>T (p.Gly456=)
c.215-1334G>A (n.215-1334G>A)
 gnomAD v4
8g.142912629G>CCA463505953CYP11B2,GMLc.1299C>G (p.Gly433=)
c.182-1334G>C (n.182-1334G>C)
c.1446C>G (p.Gly482=)
c.1377C>G (p.Gly459=)
c.1368C>G (p.Gly456=)
c.215-1334G>C (n.215-1334G>C)
8g.142912629G>TCA463505951CYP11B2,GMLc.1299C>A (p.Gly433=)
c.182-1334G>T (n.182-1334G>T)
c.1446C>A (p.Gly482=)
c.1377C>A (p.Gly459=)
c.1368C>A (p.Gly456=)
c.215-1334G>T (n.215-1334G>T)
8g.142912630C>ACA372386432CYP11B2,GMLc.1298G>T (p.Gly433Val)
c.182-1333C>A (n.182-1333C>A)
c.1445G>T (p.Gly482Val)
c.1376G>T (p.Gly459Val)
c.1367G>T (p.Gly456Val)
c.215-1333C>A (n.215-1333C>A)
 dbSNP gnomAD v3 gnomAD v4
8g.142912630C=CA1825514514CYP11B2,GMLc.1298G= (p.Gly433=)
c.182-1333C= (n.182-1333C=)
c.1445G= (p.Gly482=)
c.1376G= (p.Gly459=)
c.1367G= (p.Gly456=)
c.215-1333C= (n.215-1333C=)
8g.142912630C>GCA372386433CYP11B2,GMLc.1298G>C (p.Gly433Ala)
c.182-1333C>G (n.182-1333C>G)
c.1445G>C (p.Gly482Ala)
c.1376G>C (p.Gly459Ala)
c.1367G>C (p.Gly456Ala)
c.215-1333C>G (n.215-1333C>G)
8g.142912630C>TCA4905850CYP11B2,GMLc.1298G>A (p.Gly433Asp)
c.182-1333C>T (n.182-1333C>T)
c.1445G>A (p.Gly482Asp)
c.1376G>A (p.Gly459Asp)
c.1367G>A (p.Gly456Asp)
c.215-1333C>T (n.215-1333C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142912631C>ACA372386440CYP11B2,GMLc.1297G>T (p.Gly433Cys)
c.182-1332C>A (n.182-1332C>A)
c.1444G>T (p.Gly482Cys)
c.1375G>T (p.Gly459Cys)
c.1366G>T (p.Gly456Cys)
c.215-1332C>A (n.215-1332C>A)
 ClinVar
8g.142912631C=CA1825514515CYP11B2,GMLc.1297G= (p.Gly433=)
c.182-1332C= (n.182-1332C=)
c.1444G= (p.Gly482=)
c.1375G= (p.Gly459=)
c.1366G= (p.Gly456=)
c.215-1332C= (n.215-1332C=)
8g.142912631C>GCA372386444CYP11B2,GMLc.1297G>C (p.Gly433Arg)
c.182-1332C>G (n.182-1332C>G)
c.1444G>C (p.Gly482Arg)
c.1375G>C (p.Gly459Arg)
c.1366G>C (p.Gly456Arg)
c.215-1332C>G (n.215-1332C>G)
8g.142912631C>TCA372386442CYP11B2,GMLc.1297G>A (p.Gly433Ser)
c.182-1332C>T (n.182-1332C>T)
c.1444G>A (p.Gly482Ser)
c.1375G>A (p.Gly459Ser)
c.1366G>A (p.Gly456Ser)
c.215-1332C>T (n.215-1332C>T)
 dbSNP COSMIC
8g.142912632C>ACA372386447CYP11B2,GMLc.1296G>T (p.Arg432Ser)
c.182-1331C>A (n.182-1331C>A)
c.1443G>T (p.Arg481Ser)
c.1374G>T (p.Arg458Ser)
c.1365G>T (p.Arg455Ser)
c.215-1331C>A (n.215-1331C>A)
8g.142912632C=CA1825514516CYP11B2,GMLc.1296G= (p.Arg432=)
c.182-1331C= (n.182-1331C=)
c.1443G= (p.Arg481=)
c.1374G= (p.Arg458=)
c.1365G= (p.Arg455=)
c.215-1331C= (n.215-1331C=)
8g.142912632C>GCA4905851CYP11B2,GMLc.1296G>C (p.Arg432Ser)
c.182-1331C>G (n.182-1331C>G)
c.1443G>C (p.Arg481Ser)
c.1374G>C (p.Arg458Ser)
c.1365G>C (p.Arg455Ser)
c.215-1331C>G (n.215-1331C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912632C>TCA4905852CYP11B2,GMLc.1296G>A (p.Arg432=)
c.182-1331C>T (n.182-1331C>T)
c.1443G>A (p.Arg481=)
c.1374G>A (p.Arg458=)
c.1365G>A (p.Arg455=)
c.215-1331C>T (n.215-1331C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142912633C>ACA372386454CYP11B2,GMLc.1295G>T (p.Arg432Met)
c.182-1330C>A (n.182-1330C>A)
c.1442G>T (p.Arg481Met)
c.1373G>T (p.Arg458Met)
c.1364G>T (p.Arg455Met)
c.215-1330C>A (n.215-1330C>A)
8g.142912633C>GCA372386459CYP11B2,GMLc.1295G>C (p.Arg432Thr)
c.182-1330C>G (n.182-1330C>G)
c.1442G>C (p.Arg481Thr)
c.1373G>C (p.Arg458Thr)
c.1364G>C (p.Arg455Thr)
c.215-1330C>G (n.215-1330C>G)
8g.142912633C>TCA372386456CYP11B2,GMLc.1295G>A (p.Arg432Lys)
c.182-1330C>T (n.182-1330C>T)
c.1442G>A (p.Arg481Lys)
c.1373G>A (p.Arg458Lys)
c.1364G>A (p.Arg455Lys)
c.215-1330C>T (n.215-1330C>T)
 gnomAD v4
8g.142912634delCA2695196486CYP11B2,GMLc.1294del (p.Arg432GlyfsTer?)
c.182-1329del (n.182-1329del)
c.1441del (p.Arg481GlyfsTer?)
c.1372del (p.Arg458GlyfsTer?)
c.1363del (p.Arg455GlyfsTer?)
c.215-1329del (n.215-1329del)
8g.142912634T>ACA187453482CYP11B2,GMLc.1294A>T (p.Arg432Trp)
c.182-1329T>A (n.182-1329T>A)
c.1441A>T (p.Arg481Trp)
c.1372A>T (p.Arg458Trp)
c.1363A>T (p.Arg455Trp)
c.215-1329T>A (n.215-1329T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142912634T>CCA372386463CYP11B2,GMLc.1294A>G (p.Arg432Gly)
c.182-1329T>C (n.182-1329T>C)
c.1441A>G (p.Arg481Gly)
c.1372A>G (p.Arg458Gly)
c.1363A>G (p.Arg455Gly)
c.215-1329T>C (n.215-1329T>C)
8g.142912634T>GCA463505960CYP11B2,GMLc.1294A>C (p.Arg432=)
c.182-1329T>G (n.182-1329T>G)
c.1441A>C (p.Arg481=)
c.1372A>C (p.Arg458=)
c.1363A>C (p.Arg455=)
c.215-1329T>G (n.215-1329T>G)
8g.142912634T=CA1825514517CYP11B2,GMLc.1294A= (p.Arg432=)
c.182-1329T= (n.182-1329T=)
c.1441A= (p.Arg481=)
c.1372A= (p.Arg458=)
c.1363A= (p.Arg455=)
c.215-1329T= (n.215-1329T=)
8g.142912635G>ACA187453487CYP11B2,GMLc.1293C>T (p.Ile431=)
c.182-1328G>A (n.182-1328G>A)
c.1440C>T (p.Ile480=)
c.1371C>T (p.Ile457=)
c.1362C>T (p.Ile454=)
c.215-1328G>A (n.215-1328G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.142912635G>CCA372386465CYP11B2,GMLc.1293C>G (p.Ile431Met)
c.182-1328G>C (n.182-1328G>C)
c.1440C>G (p.Ile480Met)
c.1371C>G (p.Ile457Met)
c.1362C>G (p.Ile454Met)
c.215-1328G>C (n.215-1328G>C)
8g.142912635G=CA1825514518CYP11B2,GMLc.1293C= (p.Ile431=)
c.182-1328G= (n.182-1328G=)
c.1440C= (p.Ile480=)
c.1371C= (p.Ile457=)
c.1362C= (p.Ile454=)
c.215-1328G= (n.215-1328G=)
8g.142912635G>TCA463505963CYP11B2,GMLc.1293C>A (p.Ile431=)
c.182-1328G>T (n.182-1328G>T)
c.1440C>A (p.Ile480=)
c.1371C>A (p.Ile457=)
c.1362C>A (p.Ile454=)
c.215-1328G>T (n.215-1328G>T)
8g.142912636A=CA1825514519CYP11B2,GMLc.1292T= (p.Ile431=)
c.182-1327A= (n.182-1327A=)
c.1439T= (p.Ile480=)
c.1370T= (p.Ile457=)
c.1361T= (p.Ile454=)
c.215-1327A= (n.215-1327A=)
8g.142912636A>CCA372386468CYP11B2,GMLc.1292T>G (p.Ile431Ser)
c.182-1327A>C (n.182-1327A>C)
c.1439T>G (p.Ile480Ser)
c.1370T>G (p.Ile457Ser)
c.1361T>G (p.Ile454Ser)
c.215-1327A>C (n.215-1327A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142912636A>GCA372386470CYP11B2,GMLc.1292T>C (p.Ile431Thr)
c.182-1327A>G (n.182-1327A>G)
c.1439T>C (p.Ile480Thr)
c.1370T>C (p.Ile457Thr)
c.1361T>C (p.Ile454Thr)
c.215-1327A>G (n.215-1327A>G)
8g.142912636A>TCA372386473CYP11B2,GMLc.1292T>A (p.Ile431Asn)
c.182-1327A>T (n.182-1327A>T)
c.1439T>A (p.Ile480Asn)
c.1370T>A (p.Ile457Asn)
c.1361T>A (p.Ile454Asn)
c.215-1327A>T (n.215-1327A>T)
 dbSNP gnomAD v4
8g.142912637T>ACA372386482CYP11B2,GMLc.1291A>T (p.Ile431Phe)
c.182-1326T>A (n.182-1326T>A)
c.1438A>T (p.Ile480Phe)
c.1369A>T (p.Ile457Phe)
c.1360A>T (p.Ile454Phe)
c.215-1326T>A (n.215-1326T>A)
8g.142912637T>CCA372386477CYP11B2,GMLc.1291A>G (p.Ile431Val)
c.182-1326T>C (n.182-1326T>C)
c.1438A>G (p.Ile480Val)
c.1369A>G (p.Ile457Val)
c.1360A>G (p.Ile454Val)
c.215-1326T>C (n.215-1326T>C)
8g.142912637T>GCA372386480CYP11B2,GMLc.1291A>C (p.Ile431Leu)
c.182-1326T>G (n.182-1326T>G)
c.1438A>C (p.Ile480Leu)
c.1369A>C (p.Ile457Leu)
c.1360A>C (p.Ile454Leu)
c.215-1326T>G (n.215-1326T>G)
8g.142912638G>ACA463505970CYP11B2,GMLc.1290C>T (p.Asp430=)
c.182-1325G>A (n.182-1325G>A)
c.1437C>T (p.Asp479=)
c.1368C>T (p.Asp456=)
c.1359C>T (p.Asp453=)
c.215-1325G>A (n.215-1325G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.142912638G>CCA372386484CYP11B2,GMLc.1290C>G (p.Asp430Glu)
c.182-1325G>C (n.182-1325G>C)
c.1437C>G (p.Asp479Glu)
c.1368C>G (p.Asp456Glu)
c.1359C>G (p.Asp453Glu)
c.215-1325G>C (n.215-1325G>C)
8g.142912638G=CA1825514520CYP11B2,GMLc.1290C= (p.Asp430=)
c.182-1325G= (n.182-1325G=)
c.1437C= (p.Asp479=)
c.1368C= (p.Asp456=)
c.1359C= (p.Asp453=)
c.215-1325G= (n.215-1325G=)
8g.142912638G>TCA372386487CYP11B2,GMLc.1290C>A (p.Asp430Glu)
c.182-1325G>T (n.182-1325G>T)
c.1437C>A (p.Asp479Glu)
c.1368C>A (p.Asp456Glu)
c.1359C>A (p.Asp453Glu)
c.215-1325G>T (n.215-1325G>T)
8g.142912639T>ACA372386489CYP11B2,GMLc.1289A>T (p.Asp430Val)
c.182-1324T>A (n.182-1324T>A)
c.1436A>T (p.Asp479Val)
c.1367A>T (p.Asp456Val)
c.1358A>T (p.Asp453Val)
c.215-1324T>A (n.215-1324T>A)
8g.142912639T>CCA372386492CYP11B2,GMLc.1289A>G (p.Asp430Gly)
c.182-1324T>C (n.182-1324T>C)
c.1436A>G (p.Asp479Gly)
c.1367A>G (p.Asp456Gly)
c.1358A>G (p.Asp453Gly)
c.215-1324T>C (n.215-1324T>C)
8g.142912639T>GCA4905853CYP11B2,GMLc.1289A>C (p.Asp430Ala)
c.182-1324T>G (n.182-1324T>G)
c.1436A>C (p.Asp479Ala)
c.1367A>C (p.Asp456Ala)
c.1358A>C (p.Asp453Ala)
c.215-1324T>G (n.215-1324T>G)
 dbSNP ExAC gnomAD v4
8g.142912639T=CA1825514521CYP11B2,GMLc.1289A= (p.Asp430=)
c.182-1324T= (n.182-1324T=)
c.1436A= (p.Asp479=)
c.1367A= (p.Asp456=)
c.1358A= (p.Asp453=)
c.215-1324T= (n.215-1324T=)
8g.142912640C>ACA372386495CYP11B2,GMLc.1288G>T (p.Asp430Tyr)
c.182-1323C>A (n.182-1323C>A)
c.1435G>T (p.Asp479Tyr)
c.1366G>T (p.Asp456Tyr)
c.1357G>T (p.Asp453Tyr)
c.215-1323C>A (n.215-1323C>A)
8g.142912640C>GCA372386497CYP11B2,GMLc.1288G>C (p.Asp430His)
c.182-1323C>G (n.182-1323C>G)
c.1435G>C (p.Asp479His)
c.1366G>C (p.Asp456His)
c.1357G>C (p.Asp453His)
c.215-1323C>G (n.215-1323C>G)
 gnomAD v4
8g.142912640C>TCA372386496CYP11B2,GMLc.1288G>A (p.Asp430Asn)
c.182-1323C>T (n.182-1323C>T)
c.1435G>A (p.Asp479Asn)
c.1366G>A (p.Asp456Asn)
c.1357G>A (p.Asp453Asn)
c.215-1323C>T (n.215-1323C>T)
8g.142912641T>ACA463505972CYP11B2,GMLc.1287A>T (p.Leu429=)
c.182-1322T>A (n.182-1322T>A)
c.1434A>T (p.Leu478=)
c.1365A>T (p.Leu455=)
c.1356A>T (p.Leu452=)
c.215-1322T>A (n.215-1322T>A)
8g.142912641T>CCA463505973CYP11B2,GMLc.1287A>G (p.Leu429=)
c.182-1322T>C (n.182-1322T>C)
c.1434A>G (p.Leu478=)
c.1365A>G (p.Leu455=)
c.1356A>G (p.Leu452=)
c.215-1322T>C (n.215-1322T>C)
8g.142912641T>GCA463505974CYP11B2,GMLc.1287A>C (p.Leu429=)
c.182-1322T>G (n.182-1322T>G)
c.1434A>C (p.Leu478=)
c.1365A>C (p.Leu455=)
c.1356A>C (p.Leu452=)
c.215-1322T>G (n.215-1322T>G)
8g.142912642A>CCA372386498CYP11B2,GMLc.1286T>G (p.Leu429Arg)
c.182-1321A>C (n.182-1321A>C)
c.1433T>G (p.Leu478Arg)
c.1364T>G (p.Leu455Arg)
c.1355T>G (p.Leu452Arg)
c.215-1321A>C (n.215-1321A>C)
 gnomAD v4
8g.142912642A>GCA372386500CYP11B2,GMLc.1286T>C (p.Leu429Pro)
c.182-1321A>G (n.182-1321A>G)
c.1433T>C (p.Leu478Pro)
c.1364T>C (p.Leu455Pro)
c.1355T>C (p.Leu452Pro)
c.215-1321A>G (n.215-1321A>G)
8g.142912642A>TCA372386502CYP11B2,GMLc.1286T>A (p.Leu429Gln)
c.182-1321A>T (n.182-1321A>T)
c.1433T>A (p.Leu478Gln)
c.1364T>A (p.Leu455Gln)
c.1355T>A (p.Leu452Gln)
c.215-1321A>T (n.215-1321A>T)
 gnomAD v4
8g.142912643G>ACA463505976CYP11B2,GMLc.1285C>T (p.Leu429=)
c.182-1320G>A (n.182-1320G>A)
c.1432C>T (p.Leu478=)
c.1363C>T (p.Leu455=)
c.1354C>T (p.Leu452=)
c.215-1320G>A (n.215-1320G>A)
 dbSNP
8g.142912643G>CCA372386504CYP11B2,GMLc.1285C>G (p.Leu429Val)
c.182-1320G>C (n.182-1320G>C)
c.1432C>G (p.Leu478Val)
c.1363C>G (p.Leu455Val)
c.1354C>G (p.Leu452Val)
c.215-1320G>C (n.215-1320G>C)
8g.142912643G>TCA372386506CYP11B2,GMLc.1285C>A (p.Leu429Ile)
c.182-1320G>T (n.182-1320G>T)
c.1432C>A (p.Leu478Ile)
c.1363C>A (p.Leu455Ile)
c.1354C>A (p.Leu452Ile)
c.215-1320G>T (n.215-1320G>T)
8g.142912644C>ACA372386507CYP11B2,GMLc.1284G>T (p.Trp428Cys)
c.182-1319C>A (n.182-1319C>A)
c.1431G>T (p.Trp477Cys)
c.1362G>T (p.Trp454Cys)
c.1353G>T (p.Trp451Cys)
c.215-1319C>A (n.215-1319C>A)
8g.142912644C>GCA372386509CYP11B2,GMLc.1284G>C (p.Trp428Cys)
c.182-1319C>G (n.182-1319C>G)
c.1431G>C (p.Trp477Cys)
c.1362G>C (p.Trp454Cys)
c.1353G>C (p.Trp451Cys)
c.215-1319C>G (n.215-1319C>G)
8g.142912644C>TCA372386510CYP11B2,GMLc.1284G>A (p.Trp428Ter)
c.182-1319C>T (n.182-1319C>T)
c.1431G>A (p.Trp477Ter)
c.1362G>A (p.Trp454Ter)
c.1353G>A (p.Trp451Ter)
c.215-1319C>T (n.215-1319C>T)
 COSMIC
8g.142912645C>ACA372386512CYP11B2,GMLc.1283G>T (p.Trp428Leu)
c.182-1318C>A (n.182-1318C>A)
c.1430G>T (p.Trp477Leu)
c.1361G>T (p.Trp454Leu)
c.1352G>T (p.Trp451Leu)
c.215-1318C>A (n.215-1318C>A)
8g.142912645C>GCA372386513CYP11B2,GMLc.1283G>C (p.Trp428Ser)
c.182-1318C>G (n.182-1318C>G)
c.1430G>C (p.Trp477Ser)
c.1361G>C (p.Trp454Ser)
c.1352G>C (p.Trp451Ser)
c.215-1318C>G (n.215-1318C>G)
8g.142912645C>TCA372386515CYP11B2,GMLc.1283G>A (p.Trp428Ter)
c.182-1318C>T (n.182-1318C>T)
c.1430G>A (p.Trp477Ter)
c.1361G>A (p.Trp454Ter)
c.1352G>A (p.Trp451Ter)
c.215-1318C>T (n.215-1318C>T)
8g.142912646A>CCA372386516CYP11B2,GMLc.1282T>G (p.Trp428Gly)
c.182-1317A>C (n.182-1317A>C)
c.1429T>G (p.Trp477Gly)
c.1360T>G (p.Trp454Gly)
c.1351T>G (p.Trp451Gly)
c.215-1317A>C (n.215-1317A>C)
8g.142912646A>GCA372386519CYP11B2,GMLc.1282T>C (p.Trp428Arg)
c.182-1317A>G (n.182-1317A>G)
c.1429T>C (p.Trp477Arg)
c.1360T>C (p.Trp454Arg)
c.1351T>C (p.Trp451Arg)
c.215-1317A>G (n.215-1317A>G)
8g.142912646A>TCA372386518CYP11B2,GMLc.1282T>A (p.Trp428Arg)
c.182-1317A>T (n.182-1317A>T)
c.1429T>A (p.Trp477Arg)
c.1360T>A (p.Trp454Arg)
c.1351T>A (p.Trp451Arg)
c.215-1317A>T (n.215-1317A>T)

Number of alleles fetched