Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
8 | g.142912558T>C | CA372386005 | CYP11B2,GML | c.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) | |
8 | g.142912558T>G | CA372386007 | CYP11B2,GML | c.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) | |
8 | g.142912559C>A | CA372386010 | CYP11B2,GML | c.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 |
8 | g.142912559C>G | CA372386011 | CYP11B2,GML | c.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) | |
8 | g.142912559C>T | CA372386013 | CYP11B2,GML | c.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 |
8 | g.142912560T>A | CA463505852 | CYP11B2,GML | c.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 |
8 | g.142912560T>C | CA463505851 | CYP11B2,GML | c.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 |
8 | g.142912560T>G | CA463505850 | CYP11B2,GML | c.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 |
8 | g.142912560T= | CA1825514475 | CYP11B2,GML | c.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=) | |
8 | g.142912561G>A | CA372386016 | CYP11B2,GML | c.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) | |
8 | g.142912561G>C | CA372386019 | CYP11B2,GML | c.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) | |
8 | g.142912561G>T | CA372386022 | CYP11B2,GML | c.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) | |
8 | g.142912562C>A | CA372386025 | CYP11B2,GML | c.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) | |
8 | g.142912562C>G | CA372386028 | CYP11B2,GML | c.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) | |
8 | g.142912562C>T | CA372386032 | CYP11B2,GML | c.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) | |
8 | g.142912563C>A | CA463505858 | CYP11B2,GML | c.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) | |
8 | g.142912563C>G | CA463505857 | CYP11B2,GML | c.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) | |
8 | g.142912563C>T | CA463505856 | CYP11B2,GML | c.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) | |
8 | g.142912564A>C | CA372386038 | CYP11B2,GML | c.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) | |
8 | g.142912564A>G | CA372386039 | CYP11B2,GML | c.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) | |
8 | g.142912564A>T | CA372386036 | CYP11B2,GML | c.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) | |
8 | g.142912565G>A | CA463505859 | CYP11B2,GML | c.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) | |
8 | g.142912565G>C | CA372386041 | CYP11B2,GML | c.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) | |
8 | g.142912565G>T | CA372386044 | CYP11B2,GML | c.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) |