Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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)

Number of alleles fetched