Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.142912547_142912549dup | CA1120128557 | CYP11B2,GML | c.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 |
8 | g.142912547_142912549del | CA4905830 | CYP11B2,GML | c.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 |
8 | g.142912544_142912549del | CA1120128558 | CYP11B2,GML | c.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 |
8 | g.142912546A= | CA1825514465 | CYP11B2,GML | c.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=) | |
8 | g.142912546A>C | CA372385904 | CYP11B2,GML | c.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) | |
8 | g.142912546A>G | CA126943 | CYP11B2,GML | c.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 |
8 | g.142912546A>T | CA372385910 | CYP11B2,GML | c.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) | |
8 | g.142912547G>A | CA463505835 | CYP11B2,GML | c.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 |
8 | g.142912547G>C | CA372385919 | CYP11B2,GML | c.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 |
8 | g.142912547G= | CA1825514466 | CYP11B2,GML | c.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=) | |
8 | g.142912547G>T | CA372385917 | CYP11B2,GML | c.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 |
8 | g.142912548C>A | CA372385924 | CYP11B2,GML | c.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 |
8 | g.142912548C>G | CA372385926 | CYP11B2,GML | c.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) | |
8 | g.142912548C>T | CA372385929 | CYP11B2,GML | c.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) | |
8 | g.142912549A= | CA1825514467 | CYP11B2,GML | c.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=) | |
8 | g.142912549A>C | CA4905831 | CYP11B2,GML | c.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 |
8 | g.142912549A>G | CA187453381 | CYP11B2,GML | c.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 |
8 | g.142912549A>T | CA372385933 | CYP11B2,GML | c.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 |
8 | g.142912550T>A | CA372385935 | CYP11B2,GML | c.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) | |
8 | g.142912550T>C | CA372385939 | CYP11B2,GML | c.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 |
8 | g.142912550T>G | CA372385936 | CYP11B2,GML | c.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) | |
8 | g.142912550_142912556delinsTCTCTGC | CA1825514468 | CYP11B2,GML | c.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) | |
8 | g.142912551C>A | CA372385941 | CYP11B2,GML | c.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) | |
8 | g.142912551C>G | CA372385944 | CYP11B2,GML | c.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) | |
8 | g.142912551C>T | CA463505839 | CYP11B2,GML | c.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 |
8 | g.142912558_142912563del | CA1825514469 | CYP11B2,GML | c.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 |
8 | g.142912552T>A | CA4905832 | CYP11B2,GML | c.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 |
8 | g.142912552T>C | CA372385954 | CYP11B2,GML | c.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) | |
8 | g.142912552T>G | CA372385957 | CYP11B2,GML | c.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) | |
8 | g.142912552T= | CA1825514470 | CYP11B2,GML | c.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=) | |
8 | g.142912553C>A | CA372385961 | CYP11B2,GML | c.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) | |
8 | g.142912553C>G | CA372385964 | CYP11B2,GML | c.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) | |
8 | g.142912553C>T | CA372385967 | CYP11B2,GML | c.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) | |
8 | g.142912554T>A | CA463505841 | CYP11B2,GML | c.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) | |
8 | g.142912554T>C | CA463505842 | CYP11B2,GML | c.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) | |
8 | g.142912554T>G | CA463505843 | CYP11B2,GML | c.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) | |
8 | g.142912555G>A | CA372385971 | CYP11B2,GML | c.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 |
8 | g.142912555G>C | CA372385974 | CYP11B2,GML | c.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) | |
8 | g.142912555G= | CA1825514471 | CYP11B2,GML | c.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=) | |
8 | g.142912555G>T | CA372385977 | CYP11B2,GML | c.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) | |
8 | g.142912556C>A | CA4905833 | CYP11B2,GML | c.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 |
8 | g.142912556C= | CA1825514473 | CYP11B2,GML | c.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=) | |
8 | g.142912556C>G | CA372385988 | CYP11B2,GML | c.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) | |
8 | g.142912556C>T | CA372385991 | CYP11B2,GML | c.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) | |
8 | g.142912556_142912557dup | CA1825514472 | CYP11B2,GML | c.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 |
8 | g.142912557C>A | CA372385999 | CYP11B2,GML | c.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) | |
8 | g.142912557C= | CA1825514474 | CYP11B2,GML | c.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=) | |
8 | g.142912557C>G | CA372385997 | CYP11B2,GML | c.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 |
8 | g.142912557C>T | CA463505849 | CYP11B2,GML | c.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 |
8 | g.142912558T>A | CA372386002 | CYP11B2,GML | c.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) |