Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7120689A>C | CA403669462 | INSR | c.3590T>G (p.Leu1197Arg) c.3554T>G (p.Leu1185Arg) n.501T>G c.3665T>G (p.Leu1222Arg) c.3629T>G (p.Leu1210Arg) c.3587T>G (p.Leu1196Arg) c.3551T>G (p.Leu1184Arg) | |
19 | g.7120689A>G | CA403669463 | INSR | c.3590T>C (p.Leu1197Pro) c.3554T>C (p.Leu1185Pro) n.501T>C c.3665T>C (p.Leu1222Pro) c.3629T>C (p.Leu1210Pro) c.3587T>C (p.Leu1196Pro) c.3551T>C (p.Leu1184Pro) | |
19 | g.7120689A>T | CA403669464 | INSR | c.3590T>A (p.Leu1197Gln) c.3554T>A (p.Leu1185Gln) n.501T>A c.3665T>A (p.Leu1222Gln) c.3629T>A (p.Leu1210Gln) c.3587T>A (p.Leu1196Gln) c.3551T>A (p.Leu1184Gln) | |
19 | g.7120690G>A | CA505216688 | INSR | c.3589C>T (p.Leu1197=) c.3553C>T (p.Leu1185=) n.500C>T c.3664C>T (p.Leu1222=) c.3628C>T (p.Leu1210=) c.3586C>T (p.Leu1196=) c.3550C>T (p.Leu1184=) | |
19 | g.7120690G>C | CA403669465 | INSR | c.3589C>G (p.Leu1197Val) c.3553C>G (p.Leu1185Val) n.500C>G c.3664C>G (p.Leu1222Val) c.3628C>G (p.Leu1210Val) c.3586C>G (p.Leu1196Val) c.3550C>G (p.Leu1184Val) | |
19 | g.7120690G>T | CA403669466 | INSR | c.3589C>A (p.Leu1197Met) c.3553C>A (p.Leu1185Met) n.500C>A c.3664C>A (p.Leu1222Met) c.3628C>A (p.Leu1210Met) c.3586C>A (p.Leu1196Met) c.3550C>A (p.Leu1184Met) | |
19 | g.7120691A>C | CA505216692 | INSR | c.3588T>G (p.Gly1196=) c.3552T>G (p.Gly1184=) n.499T>G c.3663T>G (p.Gly1221=) c.3627T>G (p.Gly1209=) c.3585T>G (p.Gly1195=) c.3549T>G (p.Gly1183=) | |
19 | g.7120691A>G | CA505216691 | INSR | c.3588T>C (p.Gly1196=) c.3552T>C (p.Gly1184=) n.499T>C c.3663T>C (p.Gly1221=) c.3627T>C (p.Gly1209=) c.3585T>C (p.Gly1195=) c.3549T>C (p.Gly1183=) | gnomAD v4 |
19 | g.7120691A>T | CA505216690 | INSR | c.3588T>A (p.Gly1196=) c.3552T>A (p.Gly1184=) n.499T>A c.3663T>A (p.Gly1221=) c.3627T>A (p.Gly1209=) c.3585T>A (p.Gly1195=) c.3549T>A (p.Gly1183=) | |
19 | g.7120692C>A | CA403669469 | INSR | c.3587G>T (p.Gly1196Val) c.3551G>T (p.Gly1184Val) n.498G>T c.3662G>T (p.Gly1221Val) c.3626G>T (p.Gly1209Val) c.3584G>T (p.Gly1195Val) c.3548G>T (p.Gly1183Val) | gnomAD v4 |
19 | g.7120692C>G | CA403669468 | INSR | c.3587G>C (p.Gly1196Ala) c.3551G>C (p.Gly1184Ala) n.498G>C c.3662G>C (p.Gly1221Ala) c.3626G>C (p.Gly1209Ala) c.3584G>C (p.Gly1195Ala) c.3548G>C (p.Gly1183Ala) | |
19 | g.7120692C>T | CA403669467 | INSR | c.3587G>A (p.Gly1196Asp) c.3551G>A (p.Gly1184Asp) n.498G>A c.3662G>A (p.Gly1221Asp) c.3626G>A (p.Gly1209Asp) c.3584G>A (p.Gly1195Asp) c.3548G>A (p.Gly1183Asp) | |
19 | g.7120693C>A | CA403669470 | INSR | c.3586G>T (p.Gly1196Cys) c.3550G>T (p.Gly1184Cys) n.497G>T c.3661G>T (p.Gly1221Cys) c.3625G>T (p.Gly1209Cys) c.3583G>T (p.Gly1195Cys) c.3547G>T (p.Gly1183Cys) | |
19 | g.7120693C>G | CA403669471 | INSR | c.3586G>C (p.Gly1196Arg) c.3550G>C (p.Gly1184Arg) n.497G>C c.3661G>C (p.Gly1221Arg) c.3625G>C (p.Gly1209Arg) c.3583G>C (p.Gly1195Arg) c.3547G>C (p.Gly1183Arg) | |
19 | g.7120693C>T | CA403669472 | INSR | c.3586G>A (p.Gly1196Ser) c.3550G>A (p.Gly1184Ser) n.497G>A c.3661G>A (p.Gly1221Ser) c.3625G>A (p.Gly1209Ser) c.3583G>A (p.Gly1195Ser) c.3547G>A (p.Gly1183Ser) | |
19 | g.7120694C>A | CA403669473 | INSR | c.3585G>T (p.Lys1195Asn) c.3549G>T (p.Lys1183Asn) n.496G>T c.3660G>T (p.Lys1220Asn) c.3624G>T (p.Lys1208Asn) c.3582G>T (p.Lys1194Asn) c.3546G>T (p.Lys1182Asn) | gnomAD v4 |
19 | g.7120694C>G | CA403669474 | INSR | c.3585G>C (p.Lys1195Asn) c.3549G>C (p.Lys1183Asn) n.496G>C c.3660G>C (p.Lys1220Asn) c.3624G>C (p.Lys1208Asn) c.3582G>C (p.Lys1194Asn) c.3546G>C (p.Lys1182Asn) | gnomAD v4 |
19 | g.7120694C>T | CA505216693 | INSR | c.3585G>A (p.Lys1195=) c.3549G>A (p.Lys1183=) n.496G>A c.3660G>A (p.Lys1220=) c.3624G>A (p.Lys1208=) c.3582G>A (p.Lys1194=) c.3546G>A (p.Lys1182=) | |
19 | g.7120695T>A | CA403669475 | INSR | c.3584A>T (p.Lys1195Met) c.3548A>T (p.Lys1183Met) n.495A>T c.3659A>T (p.Lys1220Met) c.3623A>T (p.Lys1208Met) c.3581A>T (p.Lys1194Met) c.3545A>T (p.Lys1182Met) | |
19 | g.7120695T>C | CA403669476 | INSR | c.3584A>G (p.Lys1195Arg) c.3548A>G (p.Lys1183Arg) n.495A>G c.3659A>G (p.Lys1220Arg) c.3623A>G (p.Lys1208Arg) c.3581A>G (p.Lys1194Arg) c.3545A>G (p.Lys1182Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7120695T>G | CA403669477 | INSR | c.3584A>C (p.Lys1195Thr) c.3548A>C (p.Lys1183Thr) n.495A>C c.3659A>C (p.Lys1220Thr) c.3623A>C (p.Lys1208Thr) c.3581A>C (p.Lys1194Thr) c.3545A>C (p.Lys1182Thr) | |
19 | g.7120695T= | CA2320765529 | INSR | c.3584A= (p.Lys1195=) c.3548A= (p.Lys1183=) n.495A= c.3659A= (p.Lys1220=) c.3623A= (p.Lys1208=) c.3581A= (p.Lys1194=) c.3545A= (p.Lys1182=) | |
19 | g.7120696T>A | CA403669478 | INSR | c.3583A>T (p.Lys1195Ter) c.3547A>T (p.Lys1183Ter) n.494A>T c.3658A>T (p.Lys1220Ter) c.3622A>T (p.Lys1208Ter) c.3580A>T (p.Lys1194Ter) c.3544A>T (p.Lys1182Ter) | |
19 | g.7120696T>C | CA403669480 | INSR | c.3583A>G (p.Lys1195Glu) c.3547A>G (p.Lys1183Glu) n.494A>G c.3658A>G (p.Lys1220Glu) c.3622A>G (p.Lys1208Glu) c.3580A>G (p.Lys1194Glu) c.3544A>G (p.Lys1182Glu) | |
19 | g.7120696T>G | CA403669479 | INSR | c.3583A>C (p.Lys1195Gln) c.3547A>C (p.Lys1183Gln) n.494A>C c.3658A>C (p.Lys1220Gln) c.3622A>C (p.Lys1208Gln) c.3580A>C (p.Lys1194Gln) c.3544A>C (p.Lys1182Gln) | |
19 | g.7120697G>A | CA304869644 | INSR | c.3582C>T (p.Gly1194=) c.3546C>T (p.Gly1182=) n.493C>T c.3657C>T (p.Gly1219=) c.3621C>T (p.Gly1207=) c.3579C>T (p.Gly1193=) c.3543C>T (p.Gly1181=) | dbSNP gnomAD v4 |
19 | g.7120697G>C | CA505216694 | INSR | c.3582C>G (p.Gly1194=) c.3546C>G (p.Gly1182=) n.493C>G c.3657C>G (p.Gly1219=) c.3621C>G (p.Gly1207=) c.3579C>G (p.Gly1193=) c.3543C>G (p.Gly1181=) | |
19 | g.7120697G= | CA2320765531 | INSR | c.3582C= (p.Gly1194=) c.3546C= (p.Gly1182=) n.493C= c.3657C= (p.Gly1219=) c.3621C= (p.Gly1207=) c.3579C= (p.Gly1193=) c.3543C= (p.Gly1181=) | |
19 | g.7120697G>T | CA9135211 | INSR | c.3582C>A (p.Gly1194=) c.3546C>A (p.Gly1182=) n.493C>A c.3657C>A (p.Gly1219=) c.3621C>A (p.Gly1207=) c.3579C>A (p.Gly1193=) c.3543C>A (p.Gly1181=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7120697_7120698delinsGC | CA2320765530 | INSR | c.3581_3582delinsGC (p.Gly1194=) c.3545_3546delinsGC (p.Gly1182=) n.492_493delinsGC c.3656_3657delinsGC (p.Gly1219=) c.3620_3621delinsGC (p.Gly1207=) c.3578_3579delinsGC (p.Gly1193=) c.3542_3543delinsGC (p.Gly1181=) | |
19 | g.7120698C>A | CA403669481 | INSR | c.3581G>T (p.Gly1194Val) c.3545G>T (p.Gly1182Val) n.492G>T c.3656G>T (p.Gly1219Val) c.3620G>T (p.Gly1207Val) c.3578G>T (p.Gly1193Val) c.3542G>T (p.Gly1181Val) | |
19 | g.7120698C>G | CA403669482 | INSR | c.3581G>C (p.Gly1194Ala) c.3545G>C (p.Gly1182Ala) n.492G>C c.3656G>C (p.Gly1219Ala) c.3620G>C (p.Gly1207Ala) c.3578G>C (p.Gly1193Ala) c.3542G>C (p.Gly1181Ala) | |
19 | g.7120698C>T | CA403669483 | INSR | c.3581G>A (p.Gly1194Asp) c.3545G>A (p.Gly1182Asp) n.492G>A c.3656G>A (p.Gly1219Asp) c.3620G>A (p.Gly1207Asp) c.3578G>A (p.Gly1193Asp) c.3542G>A (p.Gly1181Asp) | |
19 | g.7120702dup | CA2813450037 | INSR | c.3581dup (p.Lys1195GlnfsTer24) c.3545dup (p.Lys1183GlnfsTer24) n.492dup c.3656dup (p.Lys1220GlnfsTer24) c.3620dup (p.Lys1208GlnfsTer24) c.3578dup (p.Lys1194GlnfsTer24) c.3542dup (p.Lys1182GlnfsTer24) | |
19 | g.7120702del | CA920049108 | INSR | c.3581del (p.Gly1194AlafsTer15) c.3545del (p.Gly1182AlafsTer15) n.492del c.3656del (p.Gly1219AlafsTer15) c.3620del (p.Gly1207AlafsTer15) c.3578del (p.Gly1193AlafsTer15) c.3542del (p.Gly1181AlafsTer15) | dbSNP |
19 | g.7120699C>A | CA403669484 | INSR | c.3580G>T (p.Gly1194Cys) c.3544G>T (p.Gly1182Cys) n.491G>T c.3655G>T (p.Gly1219Cys) c.3619G>T (p.Gly1207Cys) c.3577G>T (p.Gly1193Cys) c.3541G>T (p.Gly1181Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7120699C= | CA2320765532 | INSR | c.3580G= (p.Gly1194=) c.3544G= (p.Gly1182=) n.491G= c.3655G= (p.Gly1219=) c.3619G= (p.Gly1207=) c.3577G= (p.Gly1193=) c.3541G= (p.Gly1181=) | |
19 | g.7120699C>G | CA403669486 | INSR | c.3580G>C (p.Gly1194Arg) c.3544G>C (p.Gly1182Arg) n.491G>C c.3655G>C (p.Gly1219Arg) c.3619G>C (p.Gly1207Arg) c.3577G>C (p.Gly1193Arg) c.3541G>C (p.Gly1181Arg) | |
19 | g.7120699C>T | CA403669485 | INSR | c.3580G>A (p.Gly1194Ser) c.3544G>A (p.Gly1182Ser) n.491G>A c.3655G>A (p.Gly1219Ser) c.3619G>A (p.Gly1207Ser) c.3577G>A (p.Gly1193Ser) c.3541G>A (p.Gly1181Ser) | dbSNP gnomAD v4 |
19 | g.7120700C>A | CA505216698 | INSR | c.3579G>T (p.Gly1193=) c.3543G>T (p.Gly1181=) n.490G>T c.3654G>T (p.Gly1218=) c.3618G>T (p.Gly1206=) c.3576G>T (p.Gly1192=) c.3540G>T (p.Gly1180=) | |
19 | g.7120700C= | CA2320765533 | INSR | c.3579G= (p.Gly1193=) c.3543G= (p.Gly1181=) n.490G= c.3654G= (p.Gly1218=) c.3618G= (p.Gly1206=) c.3576G= (p.Gly1192=) c.3540G= (p.Gly1180=) | |
19 | g.7120700C>G | CA505216699 | INSR | c.3579G>C (p.Gly1193=) c.3543G>C (p.Gly1181=) n.490G>C c.3654G>C (p.Gly1218=) c.3618G>C (p.Gly1206=) c.3576G>C (p.Gly1192=) c.3540G>C (p.Gly1180=) | |
19 | g.7120700C>T | CA9135212 | INSR | c.3579G>A (p.Gly1193=) c.3543G>A (p.Gly1181=) n.490G>A c.3654G>A (p.Gly1218=) c.3618G>A (p.Gly1206=) c.3576G>A (p.Gly1192=) c.3540G>A (p.Gly1180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7120701C>A | CA403669487 | INSR | c.3578G>T (p.Gly1193Val) c.3542G>T (p.Gly1181Val) n.489G>T c.3653G>T (p.Gly1218Val) c.3617G>T (p.Gly1206Val) c.3575G>T (p.Gly1192Val) c.3539G>T (p.Gly1180Val) | |
19 | g.7120701C= | CA2320765534 | INSR | c.3578G= (p.Gly1193=) c.3542G= (p.Gly1181=) n.489G= c.3653G= (p.Gly1218=) c.3617G= (p.Gly1206=) c.3575G= (p.Gly1192=) c.3539G= (p.Gly1180=) | |
19 | g.7120701C>G | CA403669488 | INSR | c.3578G>C (p.Gly1193Ala) c.3542G>C (p.Gly1181Ala) n.489G>C c.3653G>C (p.Gly1218Ala) c.3617G>C (p.Gly1206Ala) c.3575G>C (p.Gly1192Ala) c.3539G>C (p.Gly1180Ala) | dbSNP |
19 | g.7120701C>T | CA403669489 | INSR | c.3578G>A (p.Gly1193Glu) c.3542G>A (p.Gly1181Glu) n.489G>A c.3653G>A (p.Gly1218Glu) c.3617G>A (p.Gly1206Glu) c.3575G>A (p.Gly1192Glu) c.3539G>A (p.Gly1180Glu) | |
19 | g.7120702C>A | CA403669490 | INSR | c.3577G>T (p.Gly1193Trp) c.3541G>T (p.Gly1181Trp) n.488G>T c.3652G>T (p.Gly1218Trp) c.3616G>T (p.Gly1206Trp) c.3574G>T (p.Gly1192Trp) c.3538G>T (p.Gly1180Trp) | dbSNP gnomAD v4 |
19 | g.7120702C= | CA2320765535 | INSR | c.3577G= (p.Gly1193=) c.3541G= (p.Gly1181=) n.488G= c.3652G= (p.Gly1218=) c.3616G= (p.Gly1206=) c.3574G= (p.Gly1192=) c.3538G= (p.Gly1180=) | |
19 | g.7120702C>G | CA403669491 | INSR | c.3577G>C (p.Gly1193Arg) c.3541G>C (p.Gly1181Arg) n.488G>C c.3652G>C (p.Gly1218Arg) c.3616G>C (p.Gly1206Arg) c.3574G>C (p.Gly1192Arg) c.3538G>C (p.Gly1180Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |