| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7120639T>A | CA403669353 | INSR | c.3640A>T (p.Thr1214Ser) c.3604A>T (p.Thr1202Ser) n.551A>T c.3715A>T (p.Thr1239Ser) c.3679A>T (p.Thr1227Ser) c.3637A>T (p.Thr1213Ser) c.3601A>T (p.Thr1201Ser) | |
| 19 | g.7120639T>C | CA403669354 | INSR | c.3640A>G (p.Thr1214Ala) c.3604A>G (p.Thr1202Ala) n.551A>G c.3715A>G (p.Thr1239Ala) c.3679A>G (p.Thr1227Ala) c.3637A>G (p.Thr1213Ala) c.3601A>G (p.Thr1201Ala) | |
| 19 | g.7120639T>G | CA403669355 | INSR | c.3640A>C (p.Thr1214Pro) c.3604A>C (p.Thr1202Pro) n.551A>C c.3715A>C (p.Thr1239Pro) c.3679A>C (p.Thr1227Pro) c.3637A>C (p.Thr1213Pro) c.3601A>C (p.Thr1201Pro) | |
| 19 | g.7120640G>A | CA505216634 | INSR | c.3639C>T (p.Phe1213=) c.3603C>T (p.Phe1201=) n.550C>T c.3714C>T (p.Phe1238=) c.3678C>T (p.Phe1226=) c.3636C>T (p.Phe1212=) c.3600C>T (p.Phe1200=) | |
| 19 | g.7120640G>C | CA403669356 | INSR | c.3639C>G (p.Phe1213Leu) c.3603C>G (p.Phe1201Leu) n.550C>G c.3714C>G (p.Phe1238Leu) c.3678C>G (p.Phe1226Leu) c.3636C>G (p.Phe1212Leu) c.3600C>G (p.Phe1200Leu) | |
| 19 | g.7120640G>T | CA403669357 | INSR | c.3639C>A (p.Phe1213Leu) c.3603C>A (p.Phe1201Leu) n.550C>A c.3714C>A (p.Phe1238Leu) c.3678C>A (p.Phe1226Leu) c.3636C>A (p.Phe1212Leu) c.3600C>A (p.Phe1200Leu) | |
| 19 | g.7120641A>C | CA403669358 | INSR | c.3638T>G (p.Phe1213Cys) c.3602T>G (p.Phe1201Cys) n.549T>G c.3713T>G (p.Phe1238Cys) c.3677T>G (p.Phe1226Cys) c.3635T>G (p.Phe1212Cys) c.3599T>G (p.Phe1200Cys) | |
| 19 | g.7120641A>G | CA403669359 | INSR | c.3638T>C (p.Phe1213Ser) c.3602T>C (p.Phe1201Ser) n.549T>C c.3713T>C (p.Phe1238Ser) c.3677T>C (p.Phe1226Ser) c.3635T>C (p.Phe1212Ser) c.3599T>C (p.Phe1200Ser) | |
| 19 | g.7120641A>T | CA403669360 | INSR | c.3638T>A (p.Phe1213Tyr) c.3602T>A (p.Phe1201Tyr) n.549T>A c.3713T>A (p.Phe1238Tyr) c.3677T>A (p.Phe1226Tyr) c.3635T>A (p.Phe1212Tyr) c.3599T>A (p.Phe1200Tyr) | |
| 19 | g.7120642A>C | CA403669362 | INSR | c.3637T>G (p.Phe1213Val) c.3601T>G (p.Phe1201Val) n.548T>G c.3712T>G (p.Phe1238Val) c.3676T>G (p.Phe1226Val) c.3634T>G (p.Phe1212Val) c.3598T>G (p.Phe1200Val) | |
| 19 | g.7120642A>G | CA403669363 | INSR | c.3637T>C (p.Phe1213Leu) c.3601T>C (p.Phe1201Leu) n.548T>C c.3712T>C (p.Phe1238Leu) c.3676T>C (p.Phe1226Leu) c.3634T>C (p.Phe1212Leu) c.3598T>C (p.Phe1200Leu) | |
| 19 | g.7120642A>T | CA403669361 | INSR | c.3637T>A (p.Phe1213Ile) c.3601T>A (p.Phe1201Ile) n.548T>A c.3712T>A (p.Phe1238Ile) c.3676T>A (p.Phe1226Ile) c.3634T>A (p.Phe1212Ile) c.3598T>A (p.Phe1200Ile) | |
| 19 | g.7120643G>A | CA505216636 | INSR | c.3636C>T (p.Val1212=) c.3600C>T (p.Val1200=) n.547C>T c.3711C>T (p.Val1237=) c.3675C>T (p.Val1225=) c.3633C>T (p.Val1211=) c.3597C>T (p.Val1199=) | |
| 19 | g.7120643G>C | CA505216637 | INSR | c.3636C>G (p.Val1212=) c.3600C>G (p.Val1200=) n.547C>G c.3711C>G (p.Val1237=) c.3675C>G (p.Val1225=) c.3633C>G (p.Val1211=) c.3597C>G (p.Val1199=) | |
| 19 | g.7120643G>T | CA505216638 | INSR | c.3636C>A (p.Val1212=) c.3600C>A (p.Val1200=) n.547C>A c.3711C>A (p.Val1237=) c.3675C>A (p.Val1225=) c.3633C>A (p.Val1211=) c.3597C>A (p.Val1199=) | |
| 19 | g.7120644A>C | CA403669364 | INSR | c.3635T>G (p.Val1212Gly) c.3599T>G (p.Val1200Gly) n.546T>G c.3710T>G (p.Val1237Gly) c.3674T>G (p.Val1225Gly) c.3632T>G (p.Val1211Gly) c.3596T>G (p.Val1199Gly) | |
| 19 | g.7120644A>G | CA403669365 | INSR | c.3635T>C (p.Val1212Ala) c.3599T>C (p.Val1200Ala) n.546T>C c.3710T>C (p.Val1237Ala) c.3674T>C (p.Val1225Ala) c.3632T>C (p.Val1211Ala) c.3596T>C (p.Val1199Ala) | |
| 19 | g.7120644A>T | CA403669366 | INSR | c.3635T>A (p.Val1212Asp) c.3599T>A (p.Val1200Asp) n.546T>A c.3710T>A (p.Val1237Asp) c.3674T>A (p.Val1225Asp) c.3632T>A (p.Val1211Asp) c.3596T>A (p.Val1199Asp) | gnomAD v4 |
| 19 | g.7120645C>A | CA403669367 | INSR | c.3634G>T (p.Val1212Phe) c.3598G>T (p.Val1200Phe) n.545G>T c.3709G>T (p.Val1237Phe) c.3673G>T (p.Val1225Phe) c.3631G>T (p.Val1211Phe) c.3595G>T (p.Val1199Phe) | |
| 19 | g.7120645C>G | CA403669368 | INSR | c.3634G>C (p.Val1212Leu) c.3598G>C (p.Val1200Leu) n.545G>C c.3709G>C (p.Val1237Leu) c.3673G>C (p.Val1225Leu) c.3631G>C (p.Val1211Leu) c.3595G>C (p.Val1199Leu) | |
| 19 | g.7120645C>T | CA403669369 | INSR | c.3634G>A (p.Val1212Ile) c.3598G>A (p.Val1200Ile) n.545G>A c.3709G>A (p.Val1237Ile) c.3673G>A (p.Val1225Ile) c.3631G>A (p.Val1211Ile) c.3595G>A (p.Val1199Ile) | gnomAD v4 |
| 19 | g.7120647_7120648del | CA2697556150 | INSR | c.3633_3634del (p.Val1212LeufsTer6) c.3597_3598del (p.Val1200LeufsTer6) n.544_545del c.3708_3709del (p.Val1237LeufsTer6) c.3672_3673del (p.Val1225LeufsTer6) c.3630_3631del (p.Val1211LeufsTer6) c.3594_3595del (p.Val1199LeufsTer6) | ClinVar |
| 19 | g.7120646C>A | CA505216640 | INSR | c.3633G>T (p.Gly1211=) c.3597G>T (p.Gly1199=) n.544G>T c.3708G>T (p.Gly1236=) c.3672G>T (p.Gly1224=) c.3630G>T (p.Gly1210=) c.3594G>T (p.Gly1198=) | |
| 19 | g.7120646C= | CA2320765514 | INSR | c.3633G= (p.Gly1211=) c.3597G= (p.Gly1199=) n.544G= c.3708G= (p.Gly1236=) c.3672G= (p.Gly1224=) c.3630G= (p.Gly1210=) c.3594G= (p.Gly1198=) | |
| 19 | g.7120646C>G | CA505216641 | INSR | c.3633G>C (p.Gly1211=) c.3597G>C (p.Gly1199=) n.544G>C c.3708G>C (p.Gly1236=) c.3672G>C (p.Gly1224=) c.3630G>C (p.Gly1210=) c.3594G>C (p.Gly1198=) | |
| 19 | g.7120646C>T | CA505216642 | INSR | c.3633G>A (p.Gly1211=) c.3597G>A (p.Gly1199=) n.544G>A c.3708G>A (p.Gly1236=) c.3672G>A (p.Gly1224=) c.3630G>A (p.Gly1210=) c.3594G>A (p.Gly1198=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7120647C>A | CA403669370 | INSR | c.3632G>T (p.Gly1211Val) c.3596G>T (p.Gly1199Val) n.543G>T c.3707G>T (p.Gly1236Val) c.3671G>T (p.Gly1224Val) c.3629G>T (p.Gly1210Val) c.3593G>T (p.Gly1198Val) | |
| 19 | g.7120647C>G | CA403669372 | INSR | c.3632G>C (p.Gly1211Ala) c.3596G>C (p.Gly1199Ala) n.543G>C c.3707G>C (p.Gly1236Ala) c.3671G>C (p.Gly1224Ala) c.3629G>C (p.Gly1210Ala) c.3593G>C (p.Gly1198Ala) | |
| 19 | g.7120647C>T | CA403669371 | INSR | c.3632G>A (p.Gly1211Glu) c.3596G>A (p.Gly1199Glu) n.543G>A c.3707G>A (p.Gly1236Glu) c.3671G>A (p.Gly1224Glu) c.3629G>A (p.Gly1210Glu) c.3593G>A (p.Gly1198Glu) | |
| 19 | g.7120648C>A | CA403669373 | INSR | c.3631G>T (p.Gly1211Trp) c.3595G>T (p.Gly1199Trp) n.542G>T c.3706G>T (p.Gly1236Trp) c.3670G>T (p.Gly1224Trp) c.3628G>T (p.Gly1210Trp) c.3592G>T (p.Gly1198Trp) | |
| 19 | g.7120648C>G | CA403669374 | INSR | c.3631G>C (p.Gly1211Arg) c.3595G>C (p.Gly1199Arg) n.542G>C c.3706G>C (p.Gly1236Arg) c.3670G>C (p.Gly1224Arg) c.3628G>C (p.Gly1210Arg) c.3592G>C (p.Gly1198Arg) | |
| 19 | g.7120648C>T | CA403669375 | INSR | c.3631G>A (p.Gly1211Arg) c.3595G>A (p.Gly1199Arg) n.542G>A c.3706G>A (p.Gly1236Arg) c.3670G>A (p.Gly1224Arg) c.3628G>A (p.Gly1210Arg) c.3592G>A (p.Gly1198Arg) | COSMIC COSMIC |
| 19 | g.7120649A>C | CA403669376 | INSR | c.3630T>G (p.Asp1210Glu) c.3594T>G (p.Asp1198Glu) n.541T>G c.3705T>G (p.Asp1235Glu) c.3669T>G (p.Asp1223Glu) c.3627T>G (p.Asp1209Glu) c.3591T>G (p.Asp1197Glu) | |
| 19 | g.7120649A>G | CA505216644 | INSR | c.3630T>C (p.Asp1210=) c.3594T>C (p.Asp1198=) n.541T>C c.3705T>C (p.Asp1235=) c.3669T>C (p.Asp1223=) c.3627T>C (p.Asp1209=) c.3591T>C (p.Asp1197=) | |
| 19 | g.7120649A>T | CA403669377 | INSR | c.3630T>A (p.Asp1210Glu) c.3594T>A (p.Asp1198Glu) n.541T>A c.3705T>A (p.Asp1235Glu) c.3669T>A (p.Asp1223Glu) c.3627T>A (p.Asp1209Glu) c.3591T>A (p.Asp1197Glu) | |
| 19 | g.7120650T>A | CA403669380 | INSR | c.3629A>T (p.Asp1210Val) c.3593A>T (p.Asp1198Val) n.540A>T c.3704A>T (p.Asp1235Val) c.3668A>T (p.Asp1223Val) c.3626A>T (p.Asp1209Val) c.3590A>T (p.Asp1197Val) | |
| 19 | g.7120650T>C | CA403669379 | INSR | c.3629A>G (p.Asp1210Gly) c.3593A>G (p.Asp1198Gly) n.540A>G c.3704A>G (p.Asp1235Gly) c.3668A>G (p.Asp1223Gly) c.3626A>G (p.Asp1209Gly) c.3590A>G (p.Asp1197Gly) | dbSNP gnomAD v2 |
| 19 | g.7120650T>G | CA403669378 | INSR | c.3629A>C (p.Asp1210Ala) c.3593A>C (p.Asp1198Ala) n.540A>C c.3704A>C (p.Asp1235Ala) c.3668A>C (p.Asp1223Ala) c.3626A>C (p.Asp1209Ala) c.3590A>C (p.Asp1197Ala) | |
| 19 | g.7120650T= | CA2320765515 | INSR | c.3629A= (p.Asp1210=) c.3593A= (p.Asp1198=) n.540A= c.3704A= (p.Asp1235=) c.3668A= (p.Asp1223=) c.3626A= (p.Asp1209=) c.3590A= (p.Asp1197=) | |
| 19 | g.7120651C>A | CA403669382 | INSR | c.3628G>T (p.Asp1210Tyr) c.3592G>T (p.Asp1198Tyr) n.539G>T c.3703G>T (p.Asp1235Tyr) c.3667G>T (p.Asp1223Tyr) c.3625G>T (p.Asp1209Tyr) c.3589G>T (p.Asp1197Tyr) | |
| 19 | g.7120651C>G | CA403669381 | INSR | c.3628G>C (p.Asp1210His) c.3592G>C (p.Asp1198His) n.539G>C c.3703G>C (p.Asp1235His) c.3667G>C (p.Asp1223His) c.3625G>C (p.Asp1209His) c.3589G>C (p.Asp1197His) | |
| 19 | g.7120651C>T | CA403669383 | INSR | c.3628G>A (p.Asp1210Asn) c.3592G>A (p.Asp1198Asn) n.539G>A c.3703G>A (p.Asp1235Asn) c.3667G>A (p.Asp1223Asn) c.3625G>A (p.Asp1209Asn) c.3589G>A (p.Asp1197Asn) | gnomAD v4 |
| 19 | g.7120652C>A | CA403669384 | INSR | c.3627G>T (p.Lys1209Asn) c.3591G>T (p.Lys1197Asn) n.538G>T c.3702G>T (p.Lys1234Asn) c.3666G>T (p.Lys1222Asn) c.3624G>T (p.Lys1208Asn) c.3588G>T (p.Lys1196Asn) | |
| 19 | g.7120652C>G | CA403669385 | INSR | c.3627G>C (p.Lys1209Asn) c.3591G>C (p.Lys1197Asn) n.538G>C c.3702G>C (p.Lys1234Asn) c.3666G>C (p.Lys1222Asn) c.3624G>C (p.Lys1208Asn) c.3588G>C (p.Lys1196Asn) | |
| 19 | g.7120652C>T | CA505216645 | INSR | c.3627G>A (p.Lys1209=) c.3591G>A (p.Lys1197=) n.538G>A c.3702G>A (p.Lys1234=) c.3666G>A (p.Lys1222=) c.3624G>A (p.Lys1208=) c.3588G>A (p.Lys1196=) | |
| 19 | g.7120653T>A | CA403669386 | INSR | c.3626A>T (p.Lys1209Met) c.3590A>T (p.Lys1197Met) n.537A>T c.3701A>T (p.Lys1234Met) c.3665A>T (p.Lys1222Met) c.3623A>T (p.Lys1208Met) c.3587A>T (p.Lys1196Met) | |
| 19 | g.7120653T>C | CA403669387 | INSR | c.3626A>G (p.Lys1209Arg) c.3590A>G (p.Lys1197Arg) n.537A>G c.3701A>G (p.Lys1234Arg) c.3665A>G (p.Lys1222Arg) c.3623A>G (p.Lys1208Arg) c.3587A>G (p.Lys1196Arg) | |
| 19 | g.7120653T>G | CA403669388 | INSR | c.3626A>C (p.Lys1209Thr) c.3590A>C (p.Lys1197Thr) n.537A>C c.3701A>C (p.Lys1234Thr) c.3665A>C (p.Lys1222Thr) c.3623A>C (p.Lys1208Thr) c.3587A>C (p.Lys1196Thr) | |
| 19 | g.7120654T>A | CA403669389 | INSR | c.3625A>T (p.Lys1209Ter) c.3589A>T (p.Lys1197Ter) n.536A>T c.3700A>T (p.Lys1234Ter) c.3664A>T (p.Lys1222Ter) c.3622A>T (p.Lys1208Ter) c.3586A>T (p.Lys1196Ter) | |
| 19 | g.7120654T>C | CA403669390 | INSR | c.3625A>G (p.Lys1209Glu) c.3589A>G (p.Lys1197Glu) n.536A>G c.3700A>G (p.Lys1234Glu) c.3664A>G (p.Lys1222Glu) c.3622A>G (p.Lys1208Glu) c.3586A>G (p.Lys1196Glu) |