Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604255_18604257dup | CA2693222670 | CDKL5 | c.1331_1333dup (p.Arg444_His445insArg) c.1280_1282dup (p.Arg427_His428insArg) c.1199_1201dup (p.Arg400_His401insArg) n.1583_1585dup | gnomAD v4 |
X | g.18604254_18604266del | CA2740092029 | CDKL5 | c.1330_1342del (p.Arg444TrpfsTer?) c.1279_1291del (p.Arg427TrpfsTer?) c.1198_1210del (p.Arg400TrpfsTer?) n.1582_1594del | ClinVar |
X | g.18604257C>A | CA412360468 | CDKL5 | c.1333C>A (p.His445Asn) c.1282C>A (p.His428Asn) c.1201C>A (p.His401Asn) n.1585C>A | |
X | g.18604257C>G | CA412360467 | CDKL5 | c.1333C>G (p.His445Asp) c.1282C>G (p.His428Asp) c.1201C>G (p.His401Asp) n.1585C>G | |
X | g.18604257C>T | CA412360466 | CDKL5 | c.1333C>T (p.His445Tyr) c.1282C>T (p.His428Tyr) c.1201C>T (p.His401Tyr) n.1585C>T | gnomAD v4 |
X | g.18604258A>C | CA412360471 | CDKL5 | c.1334A>C (p.His445Pro) c.1283A>C (p.His428Pro) c.1202A>C (p.His401Pro) n.1586A>C | |
X | g.18604258A>G | CA412360474 | CDKL5 | c.1334A>G (p.His445Arg) c.1283A>G (p.His428Arg) c.1202A>G (p.His401Arg) n.1586A>G | |
X | g.18604258A>T | CA412360475 | CDKL5 | c.1334A>T (p.His445Leu) c.1283A>T (p.His428Leu) c.1202A>T (p.His401Leu) n.1586A>T | |
X | g.18604259C>A | CA412360476 | CDKL5 | c.1335C>A (p.His445Gln) c.1284C>A (p.His428Gln) c.1203C>A (p.His401Gln) n.1587C>A | |
X | g.18604259C>G | CA412360477 | CDKL5 | c.1335C>G (p.His445Gln) c.1284C>G (p.His428Gln) c.1203C>G (p.His401Gln) n.1587C>G | |
X | g.18604259C>T | CA515627680 | CDKL5 | c.1335C>T (p.His445=) c.1284C>T (p.His428=) c.1203C>T (p.His401=) n.1587C>T | gnomAD v4 |
X | g.18604260T>A | CA412360478 | CDKL5 | c.1336T>A (p.Ser446Thr) c.1285T>A (p.Ser429Thr) c.1204T>A (p.Ser402Thr) n.1588T>A | |
X | g.18604260T>C | CA412360480 | CDKL5 | c.1336T>C (p.Ser446Pro) c.1285T>C (p.Ser429Pro) c.1204T>C (p.Ser402Pro) n.1588T>C | |
X | g.18604260T>G | CA412360482 | CDKL5 | c.1336T>G (p.Ser446Ala) c.1285T>G (p.Ser429Ala) c.1204T>G (p.Ser402Ala) n.1588T>G | |
X | g.18604261C>A | CA412360484 | CDKL5 | c.1337C>A (p.Ser446Ter) c.1286C>A (p.Ser429Ter) c.1205C>A (p.Ser402Ter) n.1589C>A | |
X | g.18604261C= | CA2417974030 | CDKL5 | c.1337C= (p.Ser446=) c.1286C= (p.Ser429=) c.1205C= (p.Ser402=) n.1589C= | |
X | g.18604261C>G | CA412360485 | CDKL5 | c.1337C>G (p.Ser446Ter) c.1286C>G (p.Ser429Ter) c.1205C>G (p.Ser402Ter) n.1589C>G | |
X | g.18604261C>T | CA412360487 | CDKL5 | c.1337C>T (p.Ser446Leu) c.1286C>T (p.Ser429Leu) c.1205C>T (p.Ser402Leu) n.1589C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604262A= | CA2417974035 | CDKL5 | c.1338A= (p.Ser446=) c.1287A= (p.Ser429=) c.1206A= (p.Ser402=) n.1590A= | |
X | g.18604262A>C | CA515627689 | CDKL5 | c.1338A>C (p.Ser446=) c.1287A>C (p.Ser429=) c.1206A>C (p.Ser402=) n.1590A>C | |
X | g.18604262A>G | CA515627690 | CDKL5 | c.1338A>G (p.Ser446=) c.1287A>G (p.Ser429=) c.1206A>G (p.Ser402=) n.1590A>G | |
X | g.18604262A>T | CA10360374 | CDKL5 | c.1338A>T (p.Ser446=) c.1287A>T (p.Ser429=) c.1206A>T (p.Ser402=) n.1590A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604263T>A | CA412360489 | CDKL5 | c.1339T>A (p.Phe447Ile) c.1288T>A (p.Phe430Ile) c.1207T>A (p.Phe403Ile) n.1591T>A | |
X | g.18604263T>C | CA10360375 | CDKL5 | c.1339T>C (p.Phe447Leu) c.1288T>C (p.Phe430Leu) c.1207T>C (p.Phe403Leu) n.1591T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604263T>G | CA412360491 | CDKL5 | c.1339T>G (p.Phe447Val) c.1288T>G (p.Phe430Val) c.1207T>G (p.Phe403Val) n.1591T>G | |
X | g.18604263T= | CA2417974038 | CDKL5 | c.1339T= (p.Phe447=) c.1288T= (p.Phe430=) c.1207T= (p.Phe403=) n.1591T= | |
X | g.18604264T>A | CA412360493 | CDKL5 | c.1340T>A (p.Phe447Tyr) c.1289T>A (p.Phe430Tyr) c.1208T>A (p.Phe403Tyr) n.1592T>A | |
X | g.18604264T>C | CA412360500 | CDKL5 | c.1340T>C (p.Phe447Ser) c.1289T>C (p.Phe430Ser) c.1208T>C (p.Phe403Ser) n.1592T>C | |
X | g.18604264T>G | CA10360376 | CDKL5 | c.1340T>G (p.Phe447Cys) c.1289T>G (p.Phe430Cys) c.1208T>G (p.Phe403Cys) n.1592T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604264T= | CA2417974043 | CDKL5 | c.1340T= (p.Phe447=) c.1289T= (p.Phe430=) c.1208T= (p.Phe403=) n.1592T= | |
X | g.18604264_18604265delinsTC | CA2417974041 | CDKL5 | c.1340_1341delinsTC (p.Phe447=) c.1289_1290delinsTC (p.Phe430=) c.1208_1209delinsTC (p.Phe403=) n.1592_1593delinsTC | |
X | g.18604265del | CA199376 | CDKL5 | c.1341del (p.Phe447LeufsTer?) c.1290del (p.Phe430LeufsTer?) c.1209del (p.Phe403LeufsTer?) n.1593del | ClinVar dbSNP |
X | g.18604265C>A | CA412360501 | CDKL5 | c.1341C>A (p.Phe447Leu) c.1290C>A (p.Phe430Leu) c.1209C>A (p.Phe403Leu) n.1593C>A | gnomAD v4 |
X | g.18604265C>G | CA412360504 | CDKL5 | c.1341C>G (p.Phe447Leu) c.1290C>G (p.Phe430Leu) c.1209C>G (p.Phe403Leu) n.1593C>G | |
X | g.18604265C>T | CA515627695 | CDKL5 | c.1341C>T (p.Phe447=) c.1290C>T (p.Phe430=) c.1209C>T (p.Phe403=) n.1593C>T | |
X | g.18604266A= | CA2417974051 | CDKL5 | c.1342A= (p.Met448=) c.1291A= (p.Met431=) c.1210A= (p.Met404=) n.1594A= | |
X | g.18604266A>C | CA412360507 | CDKL5 | c.1342A>C (p.Met448Leu) c.1291A>C (p.Met431Leu) c.1210A>C (p.Met404Leu) n.1594A>C | |
X | g.18604266A>G | CA412360508 | CDKL5 | c.1342A>G (p.Met448Val) c.1291A>G (p.Met431Val) c.1210A>G (p.Met404Val) n.1594A>G | ClinVar dbSNP |
X | g.18604266A>T | CA412360510 | CDKL5 | c.1342A>T (p.Met448Leu) c.1291A>T (p.Met431Leu) c.1210A>T (p.Met404Leu) n.1594A>T | |
X | g.18604267T>A | CA412360511 | CDKL5 | c.1343T>A (p.Met448Lys) c.1292T>A (p.Met431Lys) c.1211T>A (p.Met404Lys) n.1595T>A | |
X | g.18604267T>C | CA412360512 | CDKL5 | c.1343T>C (p.Met448Thr) c.1292T>C (p.Met431Thr) c.1211T>C (p.Met404Thr) n.1595T>C | |
X | g.18604267T>G | CA412360513 | CDKL5 | c.1343T>G (p.Met448Arg) c.1292T>G (p.Met431Arg) c.1211T>G (p.Met404Arg) n.1595T>G | |
X | g.18604267_18604286delinsTGGAAAGCTCTCAAAGCAAA | CA2417974056 | CDKL5 | c.1343_1362delinsTGGAAAGCTCTCAAAGCAAA (p.Met448=) c.1292_1311delinsTGGAAAGCTCTCAAAGCAAA (p.Met431=) c.1211_1230delinsTGGAAAGCTCTCAAAGCAAA (p.Met404=) n.1595_1614delinsTGGAAAGCTCTCAAAGCAAA | |
X | g.18604268G>A | CA412360517 | CDKL5 | c.1344G>A (p.Met448Ile) c.1293G>A (p.Met431Ile) c.1212G>A (p.Met404Ile) n.1596G>A | ClinVar dbSNP |
X | g.18604268G>C | CA412360518 | CDKL5 | c.1344G>C (p.Met448Ile) c.1293G>C (p.Met431Ile) c.1212G>C (p.Met404Ile) n.1596G>C | |
X | g.18604268G= | CA2417974065 | CDKL5 | c.1344G= (p.Met448=) c.1293G= (p.Met431=) c.1212G= (p.Met404=) n.1596G= | |
X | g.18604268G>T | CA412360520 | CDKL5 | c.1344G>T (p.Met448Ile) c.1293G>T (p.Met431Ile) c.1212G>T (p.Met404Ile) n.1596G>T | |
X | g.18604268_18604270delinsGGA | CA2417974063 | CDKL5 | c.1344_1346delinsGGA (p.Met448=) c.1293_1295delinsGGA (p.Met431=) c.1212_1214delinsGGA (p.Met404=) n.1596_1598delinsGGA | |
X | g.18604269_18604287del | CA294680 | CDKL5 | c.1345_1363del (p.Glu449LeufsTer?) c.1294_1312del (p.Glu432LeufsTer?) c.1213_1231del (p.Glu405LeufsTer?) n.1597_1615del | ClinVar dbSNP |
X | g.18604269G>A | CA412360529 | CDKL5 | c.1345G>A (p.Glu449Lys) c.1294G>A (p.Glu432Lys) c.1213G>A (p.Glu405Lys) n.1597G>A |