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.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)

Number of alleles fetched