Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
19 | g.7120654T>G | CA403669391 | INSR | c.3625A>C (p.Lys1209Gln) c.3589A>C (p.Lys1197Gln) n.536A>C c.3700A>C (p.Lys1234Gln) c.3664A>C (p.Lys1222Gln) c.3622A>C (p.Lys1208Gln) c.3586A>C (p.Lys1196Gln) | |
19 | g.7120655C>A | CA505216647 | INSR | c.3624G>T (p.Leu1208=) c.3588G>T (p.Leu1196=) n.535G>T c.3699G>T (p.Leu1233=) c.3663G>T (p.Leu1221=) c.3621G>T (p.Leu1207=) c.3585G>T (p.Leu1195=) | |
19 | g.7120655C= | CA2320765516 | INSR | c.3624G= (p.Leu1208=) c.3588G= (p.Leu1196=) n.535G= c.3699G= (p.Leu1233=) c.3663G= (p.Leu1221=) c.3621G= (p.Leu1207=) c.3585G= (p.Leu1195=) | |
19 | g.7120655C>G | CA505216648 | INSR | c.3624G>C (p.Leu1208=) c.3588G>C (p.Leu1196=) n.535G>C c.3699G>C (p.Leu1233=) c.3663G>C (p.Leu1221=) c.3621G>C (p.Leu1207=) c.3585G>C (p.Leu1195=) | |
19 | g.7120655C>T | CA505216649 | INSR | c.3624G>A (p.Leu1208=) c.3588G>A (p.Leu1196=) n.535G>A c.3699G>A (p.Leu1233=) c.3663G>A (p.Leu1221=) c.3621G>A (p.Leu1207=) c.3585G>A (p.Leu1195=) | dbSNP gnomAD v4 |
19 | g.7120656A>C | CA403669392 | INSR | c.3623T>G (p.Leu1208Arg) c.3587T>G (p.Leu1196Arg) n.534T>G c.3698T>G (p.Leu1233Arg) c.3662T>G (p.Leu1221Arg) c.3620T>G (p.Leu1207Arg) c.3584T>G (p.Leu1195Arg) | |
19 | g.7120656A>G | CA403669393 | INSR | c.3623T>C (p.Leu1208Pro) c.3587T>C (p.Leu1196Pro) n.534T>C c.3698T>C (p.Leu1233Pro) c.3662T>C (p.Leu1221Pro) c.3620T>C (p.Leu1207Pro) c.3584T>C (p.Leu1195Pro) | |
19 | g.7120656A>T | CA403669394 | INSR | c.3623T>A (p.Leu1208Gln) c.3587T>A (p.Leu1196Gln) n.534T>A c.3698T>A (p.Leu1233Gln) c.3662T>A (p.Leu1221Gln) c.3620T>A (p.Leu1207Gln) c.3584T>A (p.Leu1195Gln) | |
19 | g.7120657G>A | CA505216651 | INSR | c.3622C>T (p.Leu1208=) c.3586C>T (p.Leu1196=) n.533C>T c.3697C>T (p.Leu1233=) c.3661C>T (p.Leu1221=) c.3619C>T (p.Leu1207=) c.3583C>T (p.Leu1195=) | |
19 | g.7120657G>C | CA403669395 | INSR | c.3622C>G (p.Leu1208Val) c.3586C>G (p.Leu1196Val) n.533C>G c.3697C>G (p.Leu1233Val) c.3661C>G (p.Leu1221Val) c.3619C>G (p.Leu1207Val) c.3583C>G (p.Leu1195Val) | |
19 | g.7120657G>T | CA403669396 | INSR | c.3622C>A (p.Leu1208Met) c.3586C>A (p.Leu1196Met) n.533C>A c.3697C>A (p.Leu1233Met) c.3661C>A (p.Leu1221Met) c.3619C>A (p.Leu1207Met) c.3583C>A (p.Leu1195Met) | |
19 | g.7120658G>A | CA9135206 | INSR | c.3621C>T (p.Ser1207=) c.3585C>T (p.Ser1195=) n.532C>T c.3696C>T (p.Ser1232=) c.3660C>T (p.Ser1220=) c.3618C>T (p.Ser1206=) c.3582C>T (p.Ser1194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7120658G>C | CA9135205 | INSR | c.3621C>G (p.Ser1207=) c.3585C>G (p.Ser1195=) n.532C>G c.3696C>G (p.Ser1232=) c.3660C>G (p.Ser1220=) c.3618C>G (p.Ser1206=) c.3582C>G (p.Ser1194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7120658G= | CA2320765517 | INSR | c.3621C= (p.Ser1207=) c.3585C= (p.Ser1195=) n.532C= c.3696C= (p.Ser1232=) c.3660C= (p.Ser1220=) c.3618C= (p.Ser1206=) c.3582C= (p.Ser1194=) | |
19 | g.7120658G>T | CA505216652 | INSR | c.3621C>A (p.Ser1207=) c.3585C>A (p.Ser1195=) n.532C>A c.3696C>A (p.Ser1232=) c.3660C>A (p.Ser1220=) c.3618C>A (p.Ser1206=) c.3582C>A (p.Ser1194=) | |
19 | g.7120659G>A | CA403669397 | INSR | c.3620C>T (p.Ser1207Phe) c.3584C>T (p.Ser1195Phe) n.531C>T c.3695C>T (p.Ser1232Phe) c.3659C>T (p.Ser1220Phe) c.3617C>T (p.Ser1206Phe) c.3581C>T (p.Ser1194Phe) | |
19 | g.7120659G>C | CA403669398 | INSR | c.3620C>G (p.Ser1207Cys) c.3584C>G (p.Ser1195Cys) n.531C>G c.3695C>G (p.Ser1232Cys) c.3659C>G (p.Ser1220Cys) c.3617C>G (p.Ser1206Cys) c.3581C>G (p.Ser1194Cys) | gnomAD v4 |
19 | g.7120659G>T | CA403669399 | INSR | c.3620C>A (p.Ser1207Tyr) c.3584C>A (p.Ser1195Tyr) n.531C>A c.3695C>A (p.Ser1232Tyr) c.3659C>A (p.Ser1220Tyr) c.3617C>A (p.Ser1206Tyr) c.3581C>A (p.Ser1194Tyr) | COSMIC COSMIC |
19 | g.7120660A>C | CA403669400 | INSR | c.3619T>G (p.Ser1207Ala) c.3583T>G (p.Ser1195Ala) n.530T>G c.3694T>G (p.Ser1232Ala) c.3658T>G (p.Ser1220Ala) c.3616T>G (p.Ser1206Ala) c.3580T>G (p.Ser1194Ala) | |
19 | g.7120660A>G | CA403669401 | INSR | c.3619T>C (p.Ser1207Pro) c.3583T>C (p.Ser1195Pro) n.530T>C c.3694T>C (p.Ser1232Pro) c.3658T>C (p.Ser1220Pro) c.3616T>C (p.Ser1206Pro) c.3580T>C (p.Ser1194Pro) | |
19 | g.7120660A>T | CA403669402 | INSR | c.3619T>A (p.Ser1207Thr) c.3583T>A (p.Ser1195Thr) n.530T>A c.3694T>A (p.Ser1232Thr) c.3658T>A (p.Ser1220Thr) c.3616T>A (p.Ser1206Thr) c.3580T>A (p.Ser1194Thr) | |
19 | g.7120661C>A | CA403669403 | INSR | c.3618G>T (p.Glu1206Asp) c.3582G>T (p.Glu1194Asp) n.529G>T c.3693G>T (p.Glu1231Asp) c.3657G>T (p.Glu1219Asp) c.3615G>T (p.Glu1205Asp) c.3579G>T (p.Glu1193Asp) | |
19 | g.7120661C= | CA2320765518 | INSR | c.3618G= (p.Glu1206=) c.3582G= (p.Glu1194=) n.529G= c.3693G= (p.Glu1231=) c.3657G= (p.Glu1219=) c.3615G= (p.Glu1205=) c.3579G= (p.Glu1193=) | |
19 | g.7120661C>G | CA403669404 | INSR | c.3618G>C (p.Glu1206Asp) c.3582G>C (p.Glu1194Asp) n.529G>C c.3693G>C (p.Glu1231Asp) c.3657G>C (p.Glu1219Asp) c.3615G>C (p.Glu1205Asp) c.3579G>C (p.Glu1193Asp) | |
19 | g.7120661C>T | CA9135207 | INSR | c.3618G>A (p.Glu1206=) c.3582G>A (p.Glu1194=) n.529G>A c.3693G>A (p.Glu1231=) c.3657G>A (p.Glu1219=) c.3615G>A (p.Glu1205=) c.3579G>A (p.Glu1193=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7120662T>A | CA403669405 | INSR | c.3617A>T (p.Glu1206Val) c.3581A>T (p.Glu1194Val) n.528A>T c.3692A>T (p.Glu1231Val) c.3656A>T (p.Glu1219Val) c.3614A>T (p.Glu1205Val) c.3578A>T (p.Glu1193Val) | |
19 | g.7120662T>C | CA9135208 | INSR | c.3617A>G (p.Glu1206Gly) c.3581A>G (p.Glu1194Gly) n.528A>G c.3692A>G (p.Glu1231Gly) c.3656A>G (p.Glu1219Gly) c.3614A>G (p.Glu1205Gly) c.3578A>G (p.Glu1193Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7120662T>G | CA403669406 | INSR | c.3617A>C (p.Glu1206Ala) c.3581A>C (p.Glu1194Ala) n.528A>C c.3692A>C (p.Glu1231Ala) c.3656A>C (p.Glu1219Ala) c.3614A>C (p.Glu1205Ala) c.3578A>C (p.Glu1193Ala) | |
19 | g.7120662T= | CA2320765519 | INSR | c.3617A= (p.Glu1206=) c.3581A= (p.Glu1194=) n.528A= c.3692A= (p.Glu1231=) c.3656A= (p.Glu1219=) c.3614A= (p.Glu1205=) c.3578A= (p.Glu1193=) | |
19 | g.7120663C>A | CA403669408 | INSR | c.3616G>T (p.Glu1206Ter) c.3580G>T (p.Glu1194Ter) n.527G>T c.3691G>T (p.Glu1231Ter) c.3655G>T (p.Glu1219Ter) c.3613G>T (p.Glu1205Ter) c.3577G>T (p.Glu1193Ter) | |
19 | g.7120663C>G | CA403669409 | INSR | c.3616G>C (p.Glu1206Gln) c.3580G>C (p.Glu1194Gln) n.527G>C c.3691G>C (p.Glu1231Gln) c.3655G>C (p.Glu1219Gln) c.3613G>C (p.Glu1205Gln) c.3577G>C (p.Glu1193Gln) | |
19 | g.7120663C>T | CA403669407 | INSR | c.3616G>A (p.Glu1206Lys) c.3580G>A (p.Glu1194Lys) n.527G>A c.3691G>A (p.Glu1231Lys) c.3655G>A (p.Glu1219Lys) c.3613G>A (p.Glu1205Lys) c.3577G>A (p.Glu1193Lys) | |
19 | g.7120664C>A | CA505216658 | INSR | c.3615G>T (p.Pro1205=) c.3579G>T (p.Pro1193=) n.526G>T c.3690G>T (p.Pro1230=) c.3654G>T (p.Pro1218=) c.3612G>T (p.Pro1204=) c.3576G>T (p.Pro1192=) | |
19 | g.7120664C= | CA2320765520 | INSR | c.3615G= (p.Pro1205=) c.3579G= (p.Pro1193=) n.526G= c.3690G= (p.Pro1230=) c.3654G= (p.Pro1218=) c.3612G= (p.Pro1204=) c.3576G= (p.Pro1192=) | |
19 | g.7120664C>G | CA505216657 | INSR | c.3615G>C (p.Pro1205=) c.3579G>C (p.Pro1193=) n.526G>C c.3690G>C (p.Pro1230=) c.3654G>C (p.Pro1218=) c.3612G>C (p.Pro1204=) c.3576G>C (p.Pro1192=) | |
19 | g.7120664C>T | CA9135209 | INSR | c.3615G>A (p.Pro1205=) c.3579G>A (p.Pro1193=) n.526G>A c.3690G>A (p.Pro1230=) c.3654G>A (p.Pro1218=) c.3612G>A (p.Pro1204=) c.3576G>A (p.Pro1192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7120665G>A | CA403669410 | INSR | c.3614C>T (p.Pro1205Leu) c.3578C>T (p.Pro1193Leu) n.525C>T c.3689C>T (p.Pro1230Leu) c.3653C>T (p.Pro1218Leu) c.3611C>T (p.Pro1204Leu) c.3575C>T (p.Pro1192Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.7120665G>C | CA403669411 | INSR | c.3614C>G (p.Pro1205Arg) c.3578C>G (p.Pro1193Arg) n.525C>G c.3689C>G (p.Pro1230Arg) c.3653C>G (p.Pro1218Arg) c.3611C>G (p.Pro1204Arg) c.3575C>G (p.Pro1192Arg) | |
19 | g.7120665G= | CA2320765521 | INSR | c.3614C= (p.Pro1205=) c.3578C= (p.Pro1193=) n.525C= c.3689C= (p.Pro1230=) c.3653C= (p.Pro1218=) c.3611C= (p.Pro1204=) c.3575C= (p.Pro1192=) | |
19 | g.7120665G>T | CA403669412 | INSR | c.3614C>A (p.Pro1205Gln) c.3578C>A (p.Pro1193Gln) n.525C>A c.3689C>A (p.Pro1230Gln) c.3653C>A (p.Pro1218Gln) c.3611C>A (p.Pro1204Gln) c.3575C>A (p.Pro1192Gln) | |
19 | g.7120666G>A | CA403669415 | INSR | c.3613C>T (p.Pro1205Ser) c.3577C>T (p.Pro1193Ser) n.524C>T c.3688C>T (p.Pro1230Ser) c.3652C>T (p.Pro1218Ser) c.3610C>T (p.Pro1204Ser) c.3574C>T (p.Pro1192Ser) | |
19 | g.7120666G>C | CA403669414 | INSR | c.3613C>G (p.Pro1205Ala) c.3577C>G (p.Pro1193Ala) n.524C>G c.3688C>G (p.Pro1230Ala) c.3652C>G (p.Pro1218Ala) c.3610C>G (p.Pro1204Ala) c.3574C>G (p.Pro1192Ala) | |
19 | g.7120666G>T | CA403669413 | INSR | c.3613C>A (p.Pro1205Thr) c.3577C>A (p.Pro1193Thr) n.524C>A c.3688C>A (p.Pro1230Thr) c.3652C>A (p.Pro1218Thr) c.3610C>A (p.Pro1204Thr) c.3574C>A (p.Pro1192Thr) | |
19 | g.7120667T>A | CA505216661 | INSR | c.3612A>T (p.Ala1204=) c.3576A>T (p.Ala1192=) n.523A>T c.3687A>T (p.Ala1229=) c.3651A>T (p.Ala1217=) c.3609A>T (p.Ala1203=) c.3573A>T (p.Ala1191=) | gnomAD v4 |
19 | g.7120667T>C | CA505216663 | INSR | c.3612A>G (p.Ala1204=) c.3576A>G (p.Ala1192=) n.523A>G c.3687A>G (p.Ala1229=) c.3651A>G (p.Ala1217=) c.3609A>G (p.Ala1203=) c.3573A>G (p.Ala1191=) | dbSNP COSMIC COSMIC |
19 | g.7120667T>G | CA505216664 | INSR | c.3612A>C (p.Ala1204=) c.3576A>C (p.Ala1192=) n.523A>C c.3687A>C (p.Ala1229=) c.3651A>C (p.Ala1217=) c.3609A>C (p.Ala1203=) c.3573A>C (p.Ala1191=) | |
19 | g.7120668G>A | CA403669416 | INSR | c.3611C>T (p.Ala1204Val) c.3575C>T (p.Ala1192Val) n.522C>T c.3686C>T (p.Ala1229Val) c.3650C>T (p.Ala1217Val) c.3608C>T (p.Ala1203Val) c.3572C>T (p.Ala1191Val) | |
19 | g.7120668G>C | CA403669417 | INSR | c.3611C>G (p.Ala1204Gly) c.3575C>G (p.Ala1192Gly) n.522C>G c.3686C>G (p.Ala1229Gly) c.3650C>G (p.Ala1217Gly) c.3608C>G (p.Ala1203Gly) c.3572C>G (p.Ala1191Gly) | |
19 | g.7120668G>T | CA403669418 | INSR | c.3611C>A (p.Ala1204Glu) c.3575C>A (p.Ala1192Glu) n.522C>A c.3686C>A (p.Ala1229Glu) c.3650C>A (p.Ala1217Glu) c.3608C>A (p.Ala1203Glu) c.3572C>A (p.Ala1191Glu) | |
19 | g.7120669C>A | CA403669419 | INSR | c.3610G>T (p.Ala1204Ser) c.3574G>T (p.Ala1192Ser) n.521G>T c.3685G>T (p.Ala1229Ser) c.3649G>T (p.Ala1217Ser) c.3607G>T (p.Ala1203Ser) c.3571G>T (p.Ala1191Ser) | COSMIC COSMIC |
19 | g.7120669C>G | CA403669420 | INSR | c.3610G>C (p.Ala1204Pro) c.3574G>C (p.Ala1192Pro) n.521G>C c.3685G>C (p.Ala1229Pro) c.3649G>C (p.Ala1217Pro) c.3607G>C (p.Ala1203Pro) c.3571G>C (p.Ala1191Pro) | |
19 | g.7120669C>T | CA403669421 | INSR | c.3610G>A (p.Ala1204Thr) c.3574G>A (p.Ala1192Thr) n.521G>A c.3685G>A (p.Ala1229Thr) c.3649G>A (p.Ala1217Thr) c.3607G>A (p.Ala1203Thr) c.3571G>A (p.Ala1191Thr) | COSMIC COSMIC |
19 | g.7120670C>A | CA403669422 | INSR | c.3609G>T (p.Met1203Ile) c.3573G>T (p.Met1191Ile) n.520G>T c.3684G>T (p.Met1228Ile) c.3648G>T (p.Met1216Ile) c.3606G>T (p.Met1202Ile) c.3570G>T (p.Met1190Ile) | |
19 | g.7120670C>G | CA403669424 | INSR | c.3609G>C (p.Met1203Ile) c.3573G>C (p.Met1191Ile) n.520G>C c.3684G>C (p.Met1228Ile) c.3648G>C (p.Met1216Ile) c.3606G>C (p.Met1202Ile) c.3570G>C (p.Met1190Ile) | |
19 | g.7120670C>T | CA403669423 | INSR | c.3609G>A (p.Met1203Ile) c.3573G>A (p.Met1191Ile) n.520G>A c.3684G>A (p.Met1228Ile) c.3648G>A (p.Met1216Ile) c.3606G>A (p.Met1202Ile) c.3570G>A (p.Met1190Ile) | gnomAD v4 |
19 | g.7120671A>C | CA403669425 | INSR | c.3608T>G (p.Met1203Arg) c.3572T>G (p.Met1191Arg) n.519T>G c.3683T>G (p.Met1228Arg) c.3647T>G (p.Met1216Arg) c.3605T>G (p.Met1202Arg) c.3569T>G (p.Met1190Arg) | |
19 | g.7120671A>G | CA403669426 | INSR | c.3608T>C (p.Met1203Thr) c.3572T>C (p.Met1191Thr) n.519T>C c.3683T>C (p.Met1228Thr) c.3647T>C (p.Met1216Thr) c.3605T>C (p.Met1202Thr) c.3569T>C (p.Met1190Thr) | |
19 | g.7120671A>T | CA403669427 | INSR | c.3608T>A (p.Met1203Lys) c.3572T>A (p.Met1191Lys) n.519T>A c.3683T>A (p.Met1228Lys) c.3647T>A (p.Met1216Lys) c.3605T>A (p.Met1202Lys) c.3569T>A (p.Met1190Lys) | |
19 | g.7120672T>A | CA403669428 | INSR | c.3607A>T (p.Met1203Leu) c.3571A>T (p.Met1191Leu) n.518A>T c.3682A>T (p.Met1228Leu) c.3646A>T (p.Met1216Leu) c.3604A>T (p.Met1202Leu) c.3568A>T (p.Met1190Leu) | |
19 | g.7120672T>C | CA403669429 | INSR | c.3607A>G (p.Met1203Val) c.3571A>G (p.Met1191Val) n.518A>G c.3682A>G (p.Met1228Val) c.3646A>G (p.Met1216Val) c.3604A>G (p.Met1202Val) c.3568A>G (p.Met1190Val) | |
19 | g.7120672T>G | CA403669430 | INSR | c.3607A>C (p.Met1203Leu) c.3571A>C (p.Met1191Leu) n.518A>C c.3682A>C (p.Met1228Leu) c.3646A>C (p.Met1216Leu) c.3604A>C (p.Met1202Leu) c.3568A>C (p.Met1190Leu) | |
19 | g.7120673C>A | CA403669431 | INSR | c.3606G>T (p.Trp1202Cys) c.3570G>T (p.Trp1190Cys) n.517G>T c.3681G>T (p.Trp1227Cys) c.3645G>T (p.Trp1215Cys) c.3603G>T (p.Trp1201Cys) c.3567G>T (p.Trp1189Cys) | |
19 | g.7120673C>G | CA403669432 | INSR | c.3606G>C (p.Trp1202Cys) c.3570G>C (p.Trp1190Cys) n.517G>C c.3681G>C (p.Trp1227Cys) c.3645G>C (p.Trp1215Cys) c.3603G>C (p.Trp1201Cys) c.3567G>C (p.Trp1189Cys) | |
19 | g.7120673C>T | CA403669433 | INSR | c.3606G>A (p.Trp1202Ter) c.3570G>A (p.Trp1190Ter) n.517G>A c.3681G>A (p.Trp1227Ter) c.3645G>A (p.Trp1215Ter) c.3603G>A (p.Trp1201Ter) c.3567G>A (p.Trp1189Ter) | |
19 | g.7120674C>A | CA403669434 | INSR | c.3605G>T (p.Trp1202Leu) c.3569G>T (p.Trp1190Leu) n.516G>T c.3680G>T (p.Trp1227Leu) c.3644G>T (p.Trp1215Leu) c.3602G>T (p.Trp1201Leu) c.3566G>T (p.Trp1189Leu) | |
19 | g.7120674C>G | CA403669435 | INSR | c.3605G>C (p.Trp1202Ser) c.3569G>C (p.Trp1190Ser) n.516G>C c.3680G>C (p.Trp1227Ser) c.3644G>C (p.Trp1215Ser) c.3602G>C (p.Trp1201Ser) c.3566G>C (p.Trp1189Ser) | |
19 | g.7120674C>T | CA403669436 | INSR | c.3605G>A (p.Trp1202Ter) c.3569G>A (p.Trp1190Ter) n.516G>A c.3680G>A (p.Trp1227Ter) c.3644G>A (p.Trp1215Ter) c.3602G>A (p.Trp1201Ter) c.3566G>A (p.Trp1189Ter) | gnomAD v4 |
19 | g.7120675A>C | CA403669438 | INSR | c.3604T>G (p.Trp1202Gly) c.3568T>G (p.Trp1190Gly) n.515T>G c.3679T>G (p.Trp1227Gly) c.3643T>G (p.Trp1215Gly) c.3601T>G (p.Trp1201Gly) c.3565T>G (p.Trp1189Gly) | |
19 | g.7120675A>G | CA403669439 | INSR | c.3604T>C (p.Trp1202Arg) c.3568T>C (p.Trp1190Arg) n.515T>C c.3679T>C (p.Trp1227Arg) c.3643T>C (p.Trp1215Arg) c.3601T>C (p.Trp1201Arg) c.3565T>C (p.Trp1189Arg) | |
19 | g.7120675A>T | CA403669437 | INSR | c.3604T>A (p.Trp1202Arg) c.3568T>A (p.Trp1190Arg) n.515T>A c.3679T>A (p.Trp1227Arg) c.3643T>A (p.Trp1215Arg) c.3601T>A (p.Trp1201Arg) c.3565T>A (p.Trp1189Arg) | |
19 | g.7120676C>A | CA505216667 | INSR | c.3603G>T (p.Arg1201=) c.3567G>T (p.Arg1189=) n.514G>T c.3678G>T (p.Arg1226=) c.3642G>T (p.Arg1214=) c.3600G>T (p.Arg1200=) c.3564G>T (p.Arg1188=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7120676C= | CA2320765522 | INSR | c.3603G= (p.Arg1201=) c.3567G= (p.Arg1189=) n.514G= c.3678G= (p.Arg1226=) c.3642G= (p.Arg1214=) c.3600G= (p.Arg1200=) c.3564G= (p.Arg1188=) | |
19 | g.7120676C>G | CA505216669 | INSR | c.3603G>C (p.Arg1201=) c.3567G>C (p.Arg1189=) n.514G>C c.3678G>C (p.Arg1226=) c.3642G>C (p.Arg1214=) c.3600G>C (p.Arg1200=) c.3564G>C (p.Arg1188=) | |
19 | g.7120676C>T | CA505216671 | INSR | c.3603G>A (p.Arg1201=) c.3567G>A (p.Arg1189=) n.514G>A c.3678G>A (p.Arg1226=) c.3642G>A (p.Arg1214=) c.3600G>A (p.Arg1200=) c.3564G>A (p.Arg1188=) | |
19 | g.7120677C>A | CA403669441 | INSR | c.3602G>T (p.Arg1201Leu) c.3566G>T (p.Arg1189Leu) n.513G>T c.3677G>T (p.Arg1226Leu) c.3641G>T (p.Arg1214Leu) c.3599G>T (p.Arg1200Leu) c.3563G>T (p.Arg1188Leu) | |
19 | g.7120677C= | CA2320765523 | INSR | c.3602G= (p.Arg1201=) c.3566G= (p.Arg1189=) n.513G= c.3677G= (p.Arg1226=) c.3641G= (p.Arg1214=) c.3599G= (p.Arg1200=) c.3563G= (p.Arg1188=) | |
19 | g.7120677C>G | CA403669440 | INSR | c.3602G>C (p.Arg1201Pro) c.3566G>C (p.Arg1189Pro) n.513G>C c.3677G>C (p.Arg1226Pro) c.3641G>C (p.Arg1214Pro) c.3599G>C (p.Arg1200Pro) c.3563G>C (p.Arg1188Pro) | |
19 | g.7120677C>T | CA124264 | INSR | c.3602G>A (p.Arg1201Gln) c.3566G>A (p.Arg1189Gln) n.513G>A c.3677G>A (p.Arg1226Gln) c.3641G>A (p.Arg1214Gln) c.3599G>A (p.Arg1200Gln) c.3563G>A (p.Arg1188Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7120678G>A | CA403669442 | INSR | c.3601C>T (p.Arg1201Trp) c.3565C>T (p.Arg1189Trp) n.512C>T c.3676C>T (p.Arg1226Trp) c.3640C>T (p.Arg1214Trp) c.3598C>T (p.Arg1200Trp) c.3562C>T (p.Arg1188Trp) | ClinVar dbSNP gnomAD v4 |
19 | g.7120678G>C | CA403669443 | INSR | c.3601C>G (p.Arg1201Gly) c.3565C>G (p.Arg1189Gly) n.512C>G c.3676C>G (p.Arg1226Gly) c.3640C>G (p.Arg1214Gly) c.3598C>G (p.Arg1200Gly) c.3562C>G (p.Arg1188Gly) | |
19 | g.7120678G= | CA2320765524 | INSR | c.3601C= (p.Arg1201=) c.3565C= (p.Arg1189=) n.512C= c.3676C= (p.Arg1226=) c.3640C= (p.Arg1214=) c.3598C= (p.Arg1200=) c.3562C= (p.Arg1188=) | |
19 | g.7120678G>T | CA505216672 | INSR | c.3601C>A (p.Arg1201=) c.3565C>A (p.Arg1189=) n.512C>A c.3676C>A (p.Arg1226=) c.3640C>A (p.Arg1214=) c.3598C>A (p.Arg1200=) c.3562C>A (p.Arg1188=) | gnomAD v4 |
19 | g.7120679T>A | CA505216675 | INSR | c.3600A>T (p.Val1200=) c.3564A>T (p.Val1188=) n.511A>T c.3675A>T (p.Val1225=) c.3639A>T (p.Val1213=) c.3597A>T (p.Val1199=) c.3561A>T (p.Val1187=) | |
19 | g.7120679T>C | CA505216674 | INSR | c.3600A>G (p.Val1200=) c.3564A>G (p.Val1188=) n.511A>G c.3675A>G (p.Val1225=) c.3639A>G (p.Val1213=) c.3597A>G (p.Val1199=) c.3561A>G (p.Val1187=) | gnomAD v3 gnomAD v4 |
19 | g.7120679T>G | CA505216673 | INSR | c.3600A>C (p.Val1200=) c.3564A>C (p.Val1188=) n.511A>C c.3675A>C (p.Val1225=) c.3639A>C (p.Val1213=) c.3597A>C (p.Val1199=) c.3561A>C (p.Val1187=) | |
19 | g.7120680A= | CA2320765525 | INSR | c.3599T= (p.Val1200=) c.3563T= (p.Val1188=) n.510T= c.3674T= (p.Val1225=) c.3638T= (p.Val1213=) c.3596T= (p.Val1199=) c.3560T= (p.Val1187=) | |
19 | g.7120680A>C | CA403669444 | INSR | c.3599T>G (p.Val1200Gly) c.3563T>G (p.Val1188Gly) n.510T>G c.3674T>G (p.Val1225Gly) c.3638T>G (p.Val1213Gly) c.3596T>G (p.Val1199Gly) c.3560T>G (p.Val1187Gly) | |
19 | g.7120680A>G | CA403669445 | INSR | c.3599T>C (p.Val1200Ala) c.3563T>C (p.Val1188Ala) n.510T>C c.3674T>C (p.Val1225Ala) c.3638T>C (p.Val1213Ala) c.3596T>C (p.Val1199Ala) c.3560T>C (p.Val1187Ala) | dbSNP |
19 | g.7120680A>T | CA403669446 | INSR | c.3599T>A (p.Val1200Glu) c.3563T>A (p.Val1188Glu) n.510T>A c.3674T>A (p.Val1225Glu) c.3638T>A (p.Val1213Glu) c.3596T>A (p.Val1199Glu) c.3560T>A (p.Val1187Glu) | |
19 | g.7120681C>A | CA403669447 | INSR | c.3598G>T (p.Val1200Leu) c.3562G>T (p.Val1188Leu) n.509G>T c.3673G>T (p.Val1225Leu) c.3637G>T (p.Val1213Leu) c.3595G>T (p.Val1199Leu) c.3559G>T (p.Val1187Leu) | |
19 | g.7120681C>G | CA403669448 | INSR | c.3598G>C (p.Val1200Leu) c.3562G>C (p.Val1188Leu) n.509G>C c.3673G>C (p.Val1225Leu) c.3637G>C (p.Val1213Leu) c.3595G>C (p.Val1199Leu) c.3559G>C (p.Val1187Leu) | |
19 | g.7120681C>T | CA403669449 | INSR | c.3598G>A (p.Val1200Ile) c.3562G>A (p.Val1188Ile) n.509G>A c.3673G>A (p.Val1225Ile) c.3637G>A (p.Val1213Ile) c.3595G>A (p.Val1199Ile) c.3559G>A (p.Val1187Ile) | |
19 | g.7120682A= | CA2320765526 | INSR | c.3597T= (p.Pro1199=) c.3561T= (p.Pro1187=) n.508T= c.3672T= (p.Pro1224=) c.3636T= (p.Pro1212=) c.3594T= (p.Pro1198=) c.3558T= (p.Pro1186=) | |
19 | g.7120682A>C | CA505216678 | INSR | c.3597T>G (p.Pro1199=) c.3561T>G (p.Pro1187=) n.508T>G c.3672T>G (p.Pro1224=) c.3636T>G (p.Pro1212=) c.3594T>G (p.Pro1198=) c.3558T>G (p.Pro1186=) | dbSNP |
19 | g.7120682A>G | CA505216679 | INSR | c.3597T>C (p.Pro1199=) c.3561T>C (p.Pro1187=) n.508T>C c.3672T>C (p.Pro1224=) c.3636T>C (p.Pro1212=) c.3594T>C (p.Pro1198=) c.3558T>C (p.Pro1186=) | gnomAD v3 gnomAD v4 |
19 | g.7120682A>T | CA505216681 | INSR | c.3597T>A (p.Pro1199=) c.3561T>A (p.Pro1187=) n.508T>A c.3672T>A (p.Pro1224=) c.3636T>A (p.Pro1212=) c.3594T>A (p.Pro1198=) c.3558T>A (p.Pro1186=) | |
19 | g.7120683G>A | CA403669450 | INSR | c.3596C>T (p.Pro1199Leu) c.3560C>T (p.Pro1187Leu) n.507C>T c.3671C>T (p.Pro1224Leu) c.3635C>T (p.Pro1212Leu) c.3593C>T (p.Pro1198Leu) c.3557C>T (p.Pro1186Leu) | |
19 | g.7120683G>C | CA403669451 | INSR | c.3596C>G (p.Pro1199Arg) c.3560C>G (p.Pro1187Arg) n.507C>G c.3671C>G (p.Pro1224Arg) c.3635C>G (p.Pro1212Arg) c.3593C>G (p.Pro1198Arg) c.3557C>G (p.Pro1186Arg) | |
19 | g.7120683G>T | CA403669452 | INSR | c.3596C>A (p.Pro1199His) c.3560C>A (p.Pro1187His) n.507C>A c.3671C>A (p.Pro1224His) c.3635C>A (p.Pro1212His) c.3593C>A (p.Pro1198His) c.3557C>A (p.Pro1186His) | |
19 | g.7120684G>A | CA403669455 | INSR | c.3595C>T (p.Pro1199Ser) c.3559C>T (p.Pro1187Ser) n.506C>T c.3670C>T (p.Pro1224Ser) c.3634C>T (p.Pro1212Ser) c.3592C>T (p.Pro1198Ser) c.3556C>T (p.Pro1186Ser) | |
19 | g.7120684G>C | CA403669453 | INSR | c.3595C>G (p.Pro1199Ala) c.3559C>G (p.Pro1187Ala) n.506C>G c.3670C>G (p.Pro1224Ala) c.3634C>G (p.Pro1212Ala) c.3592C>G (p.Pro1198Ala) c.3556C>G (p.Pro1186Ala) | |
19 | g.7120684G>T | CA403669454 | INSR | c.3595C>A (p.Pro1199Thr) c.3559C>A (p.Pro1187Thr) n.506C>A c.3670C>A (p.Pro1224Thr) c.3634C>A (p.Pro1212Thr) c.3592C>A (p.Pro1198Thr) c.3556C>A (p.Pro1186Thr) | |
19 | g.7120685G>A | CA505216682 | INSR | c.3594C>T (p.Leu1198=) c.3558C>T (p.Leu1186=) n.505C>T c.3669C>T (p.Leu1223=) c.3633C>T (p.Leu1211=) c.3591C>T (p.Leu1197=) c.3555C>T (p.Leu1185=) | |
19 | g.7120685G>C | CA505216683 | INSR | c.3594C>G (p.Leu1198=) c.3558C>G (p.Leu1186=) n.505C>G c.3669C>G (p.Leu1223=) c.3633C>G (p.Leu1211=) c.3591C>G (p.Leu1197=) c.3555C>G (p.Leu1185=) | dbSNP |
19 | g.7120685G= | CA2320765527 | INSR | c.3594C= (p.Leu1198=) c.3558C= (p.Leu1186=) n.505C= c.3669C= (p.Leu1223=) c.3633C= (p.Leu1211=) c.3591C= (p.Leu1197=) c.3555C= (p.Leu1185=) | |
19 | g.7120685G>T | CA505216684 | INSR | c.3594C>A (p.Leu1198=) c.3558C>A (p.Leu1186=) n.505C>A c.3669C>A (p.Leu1223=) c.3633C>A (p.Leu1211=) c.3591C>A (p.Leu1197=) c.3555C>A (p.Leu1185=) | |
19 | g.7120686A>C | CA403669456 | INSR | c.3593T>G (p.Leu1198Arg) c.3557T>G (p.Leu1186Arg) n.504T>G c.3668T>G (p.Leu1223Arg) c.3632T>G (p.Leu1211Arg) c.3590T>G (p.Leu1197Arg) c.3554T>G (p.Leu1185Arg) | |
19 | g.7120686A>G | CA403669457 | INSR | c.3593T>C (p.Leu1198Pro) c.3557T>C (p.Leu1186Pro) n.504T>C c.3668T>C (p.Leu1223Pro) c.3632T>C (p.Leu1211Pro) c.3590T>C (p.Leu1197Pro) c.3554T>C (p.Leu1185Pro) | |
19 | g.7120686A>T | CA403669458 | INSR | c.3593T>A (p.Leu1198His) c.3557T>A (p.Leu1186His) n.504T>A c.3668T>A (p.Leu1223His) c.3632T>A (p.Leu1211His) c.3590T>A (p.Leu1197His) c.3554T>A (p.Leu1185His) | |
19 | g.7120687G>A | CA403669459 | INSR | c.3592C>T (p.Leu1198Phe) c.3556C>T (p.Leu1186Phe) n.503C>T c.3667C>T (p.Leu1223Phe) c.3631C>T (p.Leu1211Phe) c.3589C>T (p.Leu1197Phe) c.3553C>T (p.Leu1185Phe) | gnomAD v4 |
19 | g.7120687G>C | CA403669460 | INSR | c.3592C>G (p.Leu1198Val) c.3556C>G (p.Leu1186Val) n.503C>G c.3667C>G (p.Leu1223Val) c.3631C>G (p.Leu1211Val) c.3589C>G (p.Leu1197Val) c.3553C>G (p.Leu1185Val) | |
19 | g.7120687G>T | CA403669461 | INSR | c.3592C>A (p.Leu1198Ile) c.3556C>A (p.Leu1186Ile) n.503C>A c.3667C>A (p.Leu1223Ile) c.3631C>A (p.Leu1211Ile) c.3589C>A (p.Leu1197Ile) c.3553C>A (p.Leu1185Ile) | |
19 | g.7120688C>A | CA505216686 | INSR | c.3591G>T (p.Leu1197=) c.3555G>T (p.Leu1185=) n.502G>T c.3666G>T (p.Leu1222=) c.3630G>T (p.Leu1210=) c.3588G>T (p.Leu1196=) c.3552G>T (p.Leu1184=) | |
19 | g.7120688C= | CA2320765528 | INSR | c.3591G= (p.Leu1197=) c.3555G= (p.Leu1185=) n.502G= c.3666G= (p.Leu1222=) c.3630G= (p.Leu1210=) c.3588G= (p.Leu1196=) c.3552G= (p.Leu1184=) | |
19 | g.7120688C>G | CA9135210 | INSR | c.3591G>C (p.Leu1197=) c.3555G>C (p.Leu1185=) n.502G>C c.3666G>C (p.Leu1222=) c.3630G>C (p.Leu1210=) c.3588G>C (p.Leu1196=) c.3552G>C (p.Leu1184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7120688C>T | CA505216687 | INSR | c.3591G>A (p.Leu1197=) c.3555G>A (p.Leu1185=) n.502G>A c.3666G>A (p.Leu1222=) c.3630G>A (p.Leu1210=) c.3588G>A (p.Leu1196=) c.3552G>A (p.Leu1184=) | |
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 |
19 | g.7120702C>T | CA403669492 | INSR | c.3577G>A (p.Gly1193Arg) c.3541G>A (p.Gly1181Arg) n.488G>A c.3652G>A (p.Gly1218Arg) c.3616G>A (p.Gly1206Arg) c.3574G>A (p.Gly1192Arg) c.3538G>A (p.Gly1180Arg) | |
19 | g.7120703T>A | CA403669493 | INSR | c.3576A>T (p.Lys1192Asn) c.3540A>T (p.Lys1180Asn) n.487A>T c.3651A>T (p.Lys1217Asn) c.3615A>T (p.Lys1205Asn) c.3573A>T (p.Lys1191Asn) c.3537A>T (p.Lys1179Asn) | |
19 | g.7120703T>C | CA505216700 | INSR | c.3576A>G (p.Lys1192=) c.3540A>G (p.Lys1180=) n.487A>G c.3651A>G (p.Lys1217=) c.3615A>G (p.Lys1205=) c.3573A>G (p.Lys1191=) c.3537A>G (p.Lys1179=) | |
19 | g.7120703T>G | CA403669494 | INSR | c.3576A>C (p.Lys1192Asn) c.3540A>C (p.Lys1180Asn) n.487A>C c.3651A>C (p.Lys1217Asn) c.3615A>C (p.Lys1205Asn) c.3573A>C (p.Lys1191Asn) c.3537A>C (p.Lys1179Asn) | |
19 | g.7120704T>A | CA403669495 | INSR | c.3575A>T (p.Lys1192Ile) c.3539A>T (p.Lys1180Ile) n.486A>T c.3650A>T (p.Lys1217Ile) c.3614A>T (p.Lys1205Ile) c.3572A>T (p.Lys1191Ile) c.3536A>T (p.Lys1179Ile) | |
19 | g.7120704T>C | CA403669496 | INSR | c.3575A>G (p.Lys1192Arg) c.3539A>G (p.Lys1180Arg) n.486A>G c.3650A>G (p.Lys1217Arg) c.3614A>G (p.Lys1205Arg) c.3572A>G (p.Lys1191Arg) c.3536A>G (p.Lys1179Arg) | |
19 | g.7120704T>G | CA403669497 | INSR | c.3575A>C (p.Lys1192Thr) c.3539A>C (p.Lys1180Thr) n.486A>C c.3650A>C (p.Lys1217Thr) c.3614A>C (p.Lys1205Thr) c.3572A>C (p.Lys1191Thr) c.3536A>C (p.Lys1179Thr) | |
19 | g.7120705T>A | CA403669498 | INSR | c.3574A>T (p.Lys1192Ter) c.3538A>T (p.Lys1180Ter) n.485A>T c.3649A>T (p.Lys1217Ter) c.3613A>T (p.Lys1205Ter) c.3571A>T (p.Lys1191Ter) c.3535A>T (p.Lys1179Ter) | |
19 | g.7120705T>C | CA403669499 | INSR | c.3574A>G (p.Lys1192Glu) c.3538A>G (p.Lys1180Glu) n.485A>G c.3649A>G (p.Lys1217Glu) c.3613A>G (p.Lys1205Glu) c.3571A>G (p.Lys1191Glu) c.3535A>G (p.Lys1179Glu) | |
19 | g.7120705T>G | CA304869652 | INSR | c.3574A>C (p.Lys1192Gln) c.3538A>C (p.Lys1180Gln) n.485A>C c.3649A>C (p.Lys1217Gln) c.3613A>C (p.Lys1205Gln) c.3571A>C (p.Lys1191Gln) c.3535A>C (p.Lys1179Gln) | dbSNP |
19 | g.7120705T= | CA2320765536 | INSR | c.3574A= (p.Lys1192=) c.3538A= (p.Lys1180=) n.485A= c.3649A= (p.Lys1217=) c.3613A= (p.Lys1205=) c.3571A= (p.Lys1191=) c.3535A= (p.Lys1179=) | |
19 | g.7120706C>A | CA505216704 | INSR | c.3573G>T (p.Arg1191=) c.3537G>T (p.Arg1179=) n.484G>T c.3648G>T (p.Arg1216=) c.3612G>T (p.Arg1204=) c.3570G>T (p.Arg1190=) c.3534G>T (p.Arg1178=) | |
19 | g.7120706C>G | CA505216702 | INSR | c.3573G>C (p.Arg1191=) c.3537G>C (p.Arg1179=) n.484G>C c.3648G>C (p.Arg1216=) c.3612G>C (p.Arg1204=) c.3570G>C (p.Arg1190=) c.3534G>C (p.Arg1178=) | |
19 | g.7120706C>T | CA505216701 | INSR | c.3573G>A (p.Arg1191=) c.3537G>A (p.Arg1179=) n.484G>A c.3648G>A (p.Arg1216=) c.3612G>A (p.Arg1204=) c.3570G>A (p.Arg1190=) c.3534G>A (p.Arg1178=) | |
19 | g.7120707C>A | CA403669500 | INSR | c.3572G>T (p.Arg1191Leu) c.3536G>T (p.Arg1179Leu) n.483G>T c.3647G>T (p.Arg1216Leu) c.3611G>T (p.Arg1204Leu) c.3569G>T (p.Arg1190Leu) c.3533G>T (p.Arg1178Leu) | |
19 | g.7120707C= | CA2320765537 | INSR | c.3572G= (p.Arg1191=) c.3536G= (p.Arg1179=) n.483G= c.3647G= (p.Arg1216=) c.3611G= (p.Arg1204=) c.3569G= (p.Arg1190=) c.3533G= (p.Arg1178=) | |
19 | g.7120707C>G | CA403669501 | INSR | c.3572G>C (p.Arg1191Pro) c.3536G>C (p.Arg1179Pro) n.483G>C c.3647G>C (p.Arg1216Pro) c.3611G>C (p.Arg1204Pro) c.3569G>C (p.Arg1190Pro) c.3533G>C (p.Arg1178Pro) | |
19 | g.7120707C>T | CA124248 | INSR | c.3572G>A (p.Arg1191Gln) c.3536G>A (p.Arg1179Gln) n.483G>A c.3647G>A (p.Arg1216Gln) c.3611G>A (p.Arg1204Gln) c.3569G>A (p.Arg1190Gln) c.3533G>A (p.Arg1178Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7120708G>A | CA10652867 | INSR | c.3571C>T (p.Arg1191Trp) c.3535C>T (p.Arg1179Trp) n.482C>T c.3646C>T (p.Arg1216Trp) c.3610C>T (p.Arg1204Trp) c.3568C>T (p.Arg1190Trp) c.3532C>T (p.Arg1178Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7120708G>C | CA403669502 | INSR | c.3571C>G (p.Arg1191Gly) c.3535C>G (p.Arg1179Gly) n.482C>G c.3646C>G (p.Arg1216Gly) c.3610C>G (p.Arg1204Gly) c.3568C>G (p.Arg1190Gly) c.3532C>G (p.Arg1178Gly) | |
19 | g.7120708G= | CA2320765538 | INSR | c.3571C= (p.Arg1191=) c.3535C= (p.Arg1179=) n.482C= c.3646C= (p.Arg1216=) c.3610C= (p.Arg1204=) c.3568C= (p.Arg1190=) c.3532C= (p.Arg1178=) | |
19 | g.7120708G>T | CA505216705 | INSR | c.3571C>A (p.Arg1191=) c.3535C>A (p.Arg1179=) n.482C>A c.3646C>A (p.Arg1216=) c.3610C>A (p.Arg1204=) c.3568C>A (p.Arg1190=) c.3532C>A (p.Arg1178=) | |
19 | g.7120709G>A | CA505216706 | INSR | c.3570C>T (p.Tyr1190=) c.3534C>T (p.Tyr1178=) n.481C>T c.3645C>T (p.Tyr1215=) c.3609C>T (p.Tyr1203=) c.3567C>T (p.Tyr1189=) c.3531C>T (p.Tyr1177=) | dbSNP |
19 | g.7120709G>C | CA403669503 | INSR | c.3570C>G (p.Tyr1190Ter) c.3534C>G (p.Tyr1178Ter) n.481C>G c.3645C>G (p.Tyr1215Ter) c.3609C>G (p.Tyr1203Ter) c.3567C>G (p.Tyr1189Ter) c.3531C>G (p.Tyr1177Ter) | |
19 | g.7120709G= | CA2320765539 | INSR | c.3570C= (p.Tyr1190=) c.3534C= (p.Tyr1178=) n.481C= c.3645C= (p.Tyr1215=) c.3609C= (p.Tyr1203=) c.3567C= (p.Tyr1189=) c.3531C= (p.Tyr1177=) | |
19 | g.7120709G>T | CA403669504 | INSR | c.3570C>A (p.Tyr1190Ter) c.3534C>A (p.Tyr1178Ter) n.481C>A c.3645C>A (p.Tyr1215Ter) c.3609C>A (p.Tyr1203Ter) c.3567C>A (p.Tyr1189Ter) c.3531C>A (p.Tyr1177Ter) | |
19 | g.7120710T>A | CA403669505 | INSR | c.3569A>T (p.Tyr1190Phe) c.3533A>T (p.Tyr1178Phe) n.480A>T c.3644A>T (p.Tyr1215Phe) c.3608A>T (p.Tyr1203Phe) c.3566A>T (p.Tyr1189Phe) c.3530A>T (p.Tyr1177Phe) | |
19 | g.7120710T>C | CA403669506 | INSR | c.3569A>G (p.Tyr1190Cys) c.3533A>G (p.Tyr1178Cys) n.480A>G c.3644A>G (p.Tyr1215Cys) c.3608A>G (p.Tyr1203Cys) c.3566A>G (p.Tyr1189Cys) c.3530A>G (p.Tyr1177Cys) | gnomAD v4 |
19 | g.7120710T>G | CA403669507 | INSR | c.3569A>C (p.Tyr1190Ser) c.3533A>C (p.Tyr1178Ser) n.480A>C c.3644A>C (p.Tyr1215Ser) c.3608A>C (p.Tyr1203Ser) c.3566A>C (p.Tyr1189Ser) c.3530A>C (p.Tyr1177Ser) | |
19 | g.7120710_7120713del | CA2587921434 | INSR | c.3566_3569del (p.Tyr1189SerfsTer19) c.3530_3533del (p.Tyr1177SerfsTer19) n.477_480del c.3641_3644del (p.Tyr1214SerfsTer19) c.3605_3608del (p.Tyr1202SerfsTer19) c.3563_3566del (p.Tyr1188SerfsTer19) c.3527_3530del (p.Tyr1176SerfsTer19) | gnomAD v4 |
19 | g.7120711A= | CA2320765540 | INSR | c.3568T= (p.Tyr1190=) c.3532T= (p.Tyr1178=) n.479T= c.3643T= (p.Tyr1215=) c.3607T= (p.Tyr1203=) c.3565T= (p.Tyr1189=) c.3529T= (p.Tyr1177=) | |
19 | g.7120711A>C | CA403669508 | INSR | c.3568T>G (p.Tyr1190Asp) c.3532T>G (p.Tyr1178Asp) n.479T>G c.3643T>G (p.Tyr1215Asp) c.3607T>G (p.Tyr1203Asp) c.3565T>G (p.Tyr1189Asp) c.3529T>G (p.Tyr1177Asp) | |
19 | g.7120711A>G | CA403669509 | INSR | c.3568T>C (p.Tyr1190His) c.3532T>C (p.Tyr1178His) n.479T>C c.3643T>C (p.Tyr1215His) c.3607T>C (p.Tyr1203His) c.3565T>C (p.Tyr1189His) c.3529T>C (p.Tyr1177His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7120711A>T | CA403669510 | INSR | c.3568T>A (p.Tyr1190Asn) c.3532T>A (p.Tyr1178Asn) n.479T>A c.3643T>A (p.Tyr1215Asn) c.3607T>A (p.Tyr1203Asn) c.3565T>A (p.Tyr1189Asn) c.3529T>A (p.Tyr1177Asn) | |
19 | g.7120712G>A | CA505216708 | INSR | c.3567C>T (p.Tyr1189=) c.3531C>T (p.Tyr1177=) n.478C>T c.3642C>T (p.Tyr1214=) c.3606C>T (p.Tyr1202=) c.3564C>T (p.Tyr1188=) c.3528C>T (p.Tyr1176=) | |
19 | g.7120712G>C | CA403669511 | INSR | c.3567C>G (p.Tyr1189Ter) c.3531C>G (p.Tyr1177Ter) n.478C>G c.3642C>G (p.Tyr1214Ter) c.3606C>G (p.Tyr1202Ter) c.3564C>G (p.Tyr1188Ter) c.3528C>G (p.Tyr1176Ter) | |
19 | g.7120712G>T | CA403669512 | INSR | c.3567C>A (p.Tyr1189Ter) c.3531C>A (p.Tyr1177Ter) n.478C>A c.3642C>A (p.Tyr1214Ter) c.3606C>A (p.Tyr1202Ter) c.3564C>A (p.Tyr1188Ter) c.3528C>A (p.Tyr1176Ter) | |
19 | g.7120713T>A | CA403669513 | INSR | c.3566A>T (p.Tyr1189Phe) c.3530A>T (p.Tyr1177Phe) n.477A>T c.3641A>T (p.Tyr1214Phe) c.3605A>T (p.Tyr1202Phe) c.3563A>T (p.Tyr1188Phe) c.3527A>T (p.Tyr1176Phe) | |
19 | g.7120713T>C | CA403669514 | INSR | c.3566A>G (p.Tyr1189Cys) c.3530A>G (p.Tyr1177Cys) n.477A>G c.3641A>G (p.Tyr1214Cys) c.3605A>G (p.Tyr1202Cys) c.3563A>G (p.Tyr1188Cys) c.3527A>G (p.Tyr1176Cys) | gnomAD v4 |
19 | g.7120713T>G | CA403669515 | INSR | c.3566A>C (p.Tyr1189Ser) c.3530A>C (p.Tyr1177Ser) n.477A>C c.3641A>C (p.Tyr1214Ser) c.3605A>C (p.Tyr1202Ser) c.3563A>C (p.Tyr1188Ser) c.3527A>C (p.Tyr1176Ser) | |
19 | g.7120714A>C | CA403669518 | INSR | c.3565T>G (p.Tyr1189Asp) c.3529T>G (p.Tyr1177Asp) n.476T>G c.3640T>G (p.Tyr1214Asp) c.3604T>G (p.Tyr1202Asp) c.3562T>G (p.Tyr1188Asp) c.3526T>G (p.Tyr1176Asp) | |
19 | g.7120714A>G | CA403669516 | INSR | c.3565T>C (p.Tyr1189His) c.3529T>C (p.Tyr1177His) n.476T>C c.3640T>C (p.Tyr1214His) c.3604T>C (p.Tyr1202His) c.3562T>C (p.Tyr1188His) c.3526T>C (p.Tyr1176His) | |
19 | g.7120714A>T | CA403669517 | INSR | c.3565T>A (p.Tyr1189Asn) c.3529T>A (p.Tyr1177Asn) n.476T>A c.3640T>A (p.Tyr1214Asn) c.3604T>A (p.Tyr1202Asn) c.3562T>A (p.Tyr1188Asn) c.3526T>A (p.Tyr1176Asn) | |
19 | g.7120715A>C | CA403669519 | INSR | c.3564T>G (p.Asp1188Glu) c.3528T>G (p.Asp1176Glu) n.475T>G c.3639T>G (p.Asp1213Glu) c.3603T>G (p.Asp1201Glu) c.3561T>G (p.Asp1187Glu) c.3525T>G (p.Asp1175Glu) | |
19 | g.7120715A>G | CA505216709 | INSR | c.3564T>C (p.Asp1188=) c.3528T>C (p.Asp1176=) n.475T>C c.3639T>C (p.Asp1213=) c.3603T>C (p.Asp1201=) c.3561T>C (p.Asp1187=) c.3525T>C (p.Asp1175=) | |
19 | g.7120715A>T | CA403669520 | INSR | c.3564T>A (p.Asp1188Glu) c.3528T>A (p.Asp1176Glu) n.475T>A c.3639T>A (p.Asp1213Glu) c.3603T>A (p.Asp1201Glu) c.3561T>A (p.Asp1187Glu) c.3525T>A (p.Asp1175Glu) | |
19 | g.7120716T>A | CA403669521 | INSR | c.3563A>T (p.Asp1188Val) c.3527A>T (p.Asp1176Val) n.474A>T c.3638A>T (p.Asp1213Val) c.3602A>T (p.Asp1201Val) c.3560A>T (p.Asp1187Val) c.3524A>T (p.Asp1175Val) | |
19 | g.7120716T>C | CA403669522 | INSR | c.3563A>G (p.Asp1188Gly) c.3527A>G (p.Asp1176Gly) n.474A>G c.3638A>G (p.Asp1213Gly) c.3602A>G (p.Asp1201Gly) c.3560A>G (p.Asp1187Gly) c.3524A>G (p.Asp1175Gly) | |
19 | g.7120716T>G | CA403669523 | INSR | c.3563A>C (p.Asp1188Ala) c.3527A>C (p.Asp1176Ala) n.474A>C c.3638A>C (p.Asp1213Ala) c.3602A>C (p.Asp1201Ala) c.3560A>C (p.Asp1187Ala) c.3524A>C (p.Asp1175Ala) | |
19 | g.7120717C>A | CA403669524 | INSR | c.3562G>T (p.Asp1188Tyr) c.3526G>T (p.Asp1176Tyr) n.473G>T c.3637G>T (p.Asp1213Tyr) c.3601G>T (p.Asp1201Tyr) c.3559G>T (p.Asp1187Tyr) c.3523G>T (p.Asp1175Tyr) | |
19 | g.7120717C>G | CA403669525 | INSR | c.3562G>C (p.Asp1188His) c.3526G>C (p.Asp1176His) n.473G>C c.3637G>C (p.Asp1213His) c.3601G>C (p.Asp1201His) c.3559G>C (p.Asp1187His) c.3523G>C (p.Asp1175His) | |
19 | g.7120717C>T | CA403669526 | INSR | c.3562G>A (p.Asp1188Asn) c.3526G>A (p.Asp1176Asn) n.473G>A c.3637G>A (p.Asp1213Asn) c.3601G>A (p.Asp1201Asn) c.3559G>A (p.Asp1187Asn) c.3523G>A (p.Asp1175Asn) | |
19 | g.7120718C>A | CA505216711 | INSR | c.3561G>T (p.Thr1187=) c.3525G>T (p.Thr1175=) n.472G>T c.3636G>T (p.Thr1212=) c.3600G>T (p.Thr1200=) c.3558G>T (p.Thr1186=) c.3522G>T (p.Thr1174=) | |
19 | g.7120718C= | CA2320765541 | INSR | c.3561G= (p.Thr1187=) c.3525G= (p.Thr1175=) n.472G= c.3636G= (p.Thr1212=) c.3600G= (p.Thr1200=) c.3558G= (p.Thr1186=) c.3522G= (p.Thr1174=) | |
19 | g.7120718C>G | CA505216710 | INSR | c.3561G>C (p.Thr1187=) c.3525G>C (p.Thr1175=) n.472G>C c.3636G>C (p.Thr1212=) c.3600G>C (p.Thr1200=) c.3558G>C (p.Thr1186=) c.3522G>C (p.Thr1174=) | dbSNP |
19 | g.7120718C>T | CA9135213 | INSR | c.3561G>A (p.Thr1187=) c.3525G>A (p.Thr1175=) n.472G>A c.3636G>A (p.Thr1212=) c.3600G>A (p.Thr1200=) c.3558G>A (p.Thr1186=) c.3522G>A (p.Thr1174=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7120719G>A | CA9135214 | INSR | c.3560C>T (p.Thr1187Met) c.3524C>T (p.Thr1175Met) n.471C>T c.3635C>T (p.Thr1212Met) c.3599C>T (p.Thr1200Met) c.3557C>T (p.Thr1186Met) c.3521C>T (p.Thr1174Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7120719G>C | CA403669527 | INSR | c.3560C>G (p.Thr1187Arg) c.3524C>G (p.Thr1175Arg) n.471C>G c.3635C>G (p.Thr1212Arg) c.3599C>G (p.Thr1200Arg) c.3557C>G (p.Thr1186Arg) c.3521C>G (p.Thr1174Arg) | |
19 | g.7120719G= | CA2320765542 | INSR | c.3560C= (p.Thr1187=) c.3524C= (p.Thr1175=) n.471C= c.3635C= (p.Thr1212=) c.3599C= (p.Thr1200=) c.3557C= (p.Thr1186=) c.3521C= (p.Thr1174=) | |
19 | g.7120719G>T | CA403669528 | INSR | c.3560C>A (p.Thr1187Lys) c.3524C>A (p.Thr1175Lys) n.471C>A c.3635C>A (p.Thr1212Lys) c.3599C>A (p.Thr1200Lys) c.3557C>A (p.Thr1186Lys) c.3521C>A (p.Thr1174Lys) | |
19 | g.7120720T>A | CA403669529 | INSR | c.3559A>T (p.Thr1187Ser) c.3523A>T (p.Thr1175Ser) n.470A>T c.3634A>T (p.Thr1212Ser) c.3598A>T (p.Thr1200Ser) c.3556A>T (p.Thr1186Ser) c.3520A>T (p.Thr1174Ser) | |
19 | g.7120720T>C | CA403669531 | INSR | c.3559A>G (p.Thr1187Ala) c.3523A>G (p.Thr1175Ala) n.470A>G c.3634A>G (p.Thr1212Ala) c.3598A>G (p.Thr1200Ala) c.3556A>G (p.Thr1186Ala) c.3520A>G (p.Thr1174Ala) | gnomAD v4 |
19 | g.7120720T>G | CA403669530 | INSR | c.3559A>C (p.Thr1187Pro) c.3523A>C (p.Thr1175Pro) n.470A>C c.3634A>C (p.Thr1212Pro) c.3598A>C (p.Thr1200Pro) c.3556A>C (p.Thr1186Pro) c.3520A>C (p.Thr1174Pro) | |
19 | g.7120721T>A | CA403669532 | INSR | c.3558A>T (p.Glu1186Asp) c.3522A>T (p.Glu1174Asp) n.469A>T c.3633A>T (p.Glu1211Asp) c.3597A>T (p.Glu1199Asp) c.3555A>T (p.Glu1185Asp) c.3519A>T (p.Glu1173Asp) | |
19 | g.7120721T>C | CA505216715 | INSR | c.3558A>G (p.Glu1186=) c.3522A>G (p.Glu1174=) n.469A>G c.3633A>G (p.Glu1211=) c.3597A>G (p.Glu1199=) c.3555A>G (p.Glu1185=) c.3519A>G (p.Glu1173=) | |
19 | g.7120721T>G | CA403669533 | INSR | c.3558A>C (p.Glu1186Asp) c.3522A>C (p.Glu1174Asp) n.469A>C c.3633A>C (p.Glu1211Asp) c.3597A>C (p.Glu1199Asp) c.3555A>C (p.Glu1185Asp) c.3519A>C (p.Glu1173Asp) | |
19 | g.7120722T>A | CA403669534 | INSR | c.3557A>T (p.Glu1186Val) c.3521A>T (p.Glu1174Val) n.468A>T c.3632A>T (p.Glu1211Val) c.3596A>T (p.Glu1199Val) c.3554A>T (p.Glu1185Val) c.3518A>T (p.Glu1173Val) | |
19 | g.7120722T>C | CA403669535 | INSR | c.3557A>G (p.Glu1186Gly) c.3521A>G (p.Glu1174Gly) n.468A>G c.3632A>G (p.Glu1211Gly) c.3596A>G (p.Glu1199Gly) c.3554A>G (p.Glu1185Gly) c.3518A>G (p.Glu1173Gly) | |
19 | g.7120722T>G | CA403669536 | INSR | c.3557A>C (p.Glu1186Ala) c.3521A>C (p.Glu1174Ala) n.468A>C c.3632A>C (p.Glu1211Ala) c.3596A>C (p.Glu1199Ala) c.3554A>C (p.Glu1185Ala) c.3518A>C (p.Glu1173Ala) | |
19 | g.7120723C>A | CA403669537 | INSR | c.3556G>T (p.Glu1186Ter) c.3520G>T (p.Glu1174Ter) n.467G>T c.3631G>T (p.Glu1211Ter) c.3595G>T (p.Glu1199Ter) c.3553G>T (p.Glu1185Ter) c.3517G>T (p.Glu1173Ter) | gnomAD v4 |
19 | g.7120723C>G | CA403669538 | INSR | c.3556G>C (p.Glu1186Gln) c.3520G>C (p.Glu1174Gln) n.467G>C c.3631G>C (p.Glu1211Gln) c.3595G>C (p.Glu1199Gln) c.3553G>C (p.Glu1185Gln) c.3517G>C (p.Glu1173Gln) | COSMIC COSMIC |
19 | g.7120723C>T | CA403669539 | INSR | c.3556G>A (p.Glu1186Lys) c.3520G>A (p.Glu1174Lys) n.467G>A c.3631G>A (p.Glu1211Lys) c.3595G>A (p.Glu1199Lys) c.3553G>A (p.Glu1185Lys) c.3517G>A (p.Glu1173Lys) | |
19 | g.7120724A= | CA2320765543 | INSR | c.3555T= (p.Tyr1185=) c.3519T= (p.Tyr1173=) n.466T= c.3630T= (p.Tyr1210=) c.3594T= (p.Tyr1198=) c.3552T= (p.Tyr1184=) c.3516T= (p.Tyr1172=) | |
19 | g.7120724A>C | CA403669540 | INSR | c.3555T>G (p.Tyr1185Ter) c.3519T>G (p.Tyr1173Ter) n.466T>G c.3630T>G (p.Tyr1210Ter) c.3594T>G (p.Tyr1198Ter) c.3552T>G (p.Tyr1184Ter) c.3516T>G (p.Tyr1172Ter) | |
19 | g.7120724A>G | CA505216716 | INSR | c.3555T>C (p.Tyr1185=) c.3519T>C (p.Tyr1173=) n.466T>C c.3630T>C (p.Tyr1210=) c.3594T>C (p.Tyr1198=) c.3552T>C (p.Tyr1184=) c.3516T>C (p.Tyr1172=) | dbSNP gnomAD v4 |
19 | g.7120724A>T | CA403669541 | INSR | c.3555T>A (p.Tyr1185Ter) c.3519T>A (p.Tyr1173Ter) n.466T>A c.3630T>A (p.Tyr1210Ter) c.3594T>A (p.Tyr1198Ter) c.3552T>A (p.Tyr1184Ter) c.3516T>A (p.Tyr1172Ter) | |
19 | g.7120725T>A | CA403669544 | INSR | c.3554A>T (p.Tyr1185Phe) c.3518A>T (p.Tyr1173Phe) n.465A>T c.3629A>T (p.Tyr1210Phe) c.3593A>T (p.Tyr1198Phe) c.3551A>T (p.Tyr1184Phe) c.3515A>T (p.Tyr1172Phe) | |
19 | g.7120725T>C | CA403669543 | INSR | c.3554A>G (p.Tyr1185Cys) c.3518A>G (p.Tyr1173Cys) n.465A>G c.3629A>G (p.Tyr1210Cys) c.3593A>G (p.Tyr1198Cys) c.3551A>G (p.Tyr1184Cys) c.3515A>G (p.Tyr1172Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7120725T>G | CA403669542 | INSR | c.3554A>C (p.Tyr1185Ser) c.3518A>C (p.Tyr1173Ser) n.465A>C c.3629A>C (p.Tyr1210Ser) c.3593A>C (p.Tyr1198Ser) c.3551A>C (p.Tyr1184Ser) c.3515A>C (p.Tyr1172Ser) | |
19 | g.7120725T= | CA2320765544 | INSR | c.3554A= (p.Tyr1185=) c.3518A= (p.Tyr1173=) n.465A= c.3629A= (p.Tyr1210=) c.3593A= (p.Tyr1198=) c.3551A= (p.Tyr1184=) c.3515A= (p.Tyr1172=) | |
19 | g.7120726A>C | CA403669545 | INSR | c.3553T>G (p.Tyr1185Asp) c.3517T>G (p.Tyr1173Asp) n.464T>G c.3628T>G (p.Tyr1210Asp) c.3592T>G (p.Tyr1198Asp) c.3550T>G (p.Tyr1184Asp) c.3514T>G (p.Tyr1172Asp) | |
19 | g.7120726A>G | CA403669546 | INSR | c.3553T>C (p.Tyr1185His) c.3517T>C (p.Tyr1173His) n.464T>C c.3628T>C (p.Tyr1210His) c.3592T>C (p.Tyr1198His) c.3550T>C (p.Tyr1184His) c.3514T>C (p.Tyr1172His) | |
19 | g.7120726A>T | CA403669547 | INSR | c.3553T>A (p.Tyr1185Asn) c.3517T>A (p.Tyr1173Asn) n.464T>A c.3628T>A (p.Tyr1210Asn) c.3592T>A (p.Tyr1198Asn) c.3550T>A (p.Tyr1184Asn) c.3514T>A (p.Tyr1172Asn) | |
19 | g.7120727G>A | CA505216718 | INSR | c.3552C>T (p.Ile1184=) c.3516C>T (p.Ile1172=) n.463C>T c.3627C>T (p.Ile1209=) c.3591C>T (p.Ile1197=) c.3549C>T (p.Ile1183=) c.3513C>T (p.Ile1171=) | |
19 | g.7120727G>C | CA403669548 | INSR | c.3552C>G (p.Ile1184Met) c.3516C>G (p.Ile1172Met) n.463C>G c.3627C>G (p.Ile1209Met) c.3591C>G (p.Ile1197Met) c.3549C>G (p.Ile1183Met) c.3513C>G (p.Ile1171Met) | |
19 | g.7120727G>T | CA505216719 | INSR | c.3552C>A (p.Ile1184=) c.3516C>A (p.Ile1172=) n.463C>A c.3627C>A (p.Ile1209=) c.3591C>A (p.Ile1197=) c.3549C>A (p.Ile1183=) c.3513C>A (p.Ile1171=) | |
19 | g.7120728A>C | CA403669549 | INSR | c.3551T>G (p.Ile1184Ser) c.3515T>G (p.Ile1172Ser) n.462T>G c.3626T>G (p.Ile1209Ser) c.3590T>G (p.Ile1197Ser) c.3548T>G (p.Ile1183Ser) c.3512T>G (p.Ile1171Ser) | |
19 | g.7120728A>G | CA403669550 | INSR | c.3551T>C (p.Ile1184Thr) c.3515T>C (p.Ile1172Thr) n.462T>C c.3626T>C (p.Ile1209Thr) c.3590T>C (p.Ile1197Thr) c.3548T>C (p.Ile1183Thr) c.3512T>C (p.Ile1171Thr) | |
19 | g.7120728A>T | CA403669551 | INSR | c.3551T>A (p.Ile1184Asn) c.3515T>A (p.Ile1172Asn) n.462T>A c.3626T>A (p.Ile1209Asn) c.3590T>A (p.Ile1197Asn) c.3548T>A (p.Ile1183Asn) c.3512T>A (p.Ile1171Asn) | |
19 | g.7120728_7120734del | CA2576594953 | INSR | c.3545_3551del (p.Arg1182ThrfsTer25) c.3509_3515del (p.Arg1170ThrfsTer25) n.456_462del c.3620_3626del (p.Arg1207ThrfsTer25) c.3584_3590del (p.Arg1195ThrfsTer25) c.3542_3548del (p.Arg1181ThrfsTer25) c.3506_3512del (p.Arg1169ThrfsTer25) | gnomAD v4 |
19 | g.7120729T>A | CA403669552 | INSR | c.3550A>T (p.Ile1184Phe) c.3514A>T (p.Ile1172Phe) n.461A>T c.3625A>T (p.Ile1209Phe) c.3589A>T (p.Ile1197Phe) c.3547A>T (p.Ile1183Phe) c.3511A>T (p.Ile1171Phe) | gnomAD v4 |
19 | g.7120729T>C | CA403669553 | INSR | c.3550A>G (p.Ile1184Val) c.3514A>G (p.Ile1172Val) n.461A>G c.3625A>G (p.Ile1209Val) c.3589A>G (p.Ile1197Val) c.3547A>G (p.Ile1183Val) c.3511A>G (p.Ile1171Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7120729T>G | CA403669554 | INSR | c.3550A>C (p.Ile1184Leu) c.3514A>C (p.Ile1172Leu) n.461A>C c.3625A>C (p.Ile1209Leu) c.3589A>C (p.Ile1197Leu) c.3547A>C (p.Ile1183Leu) c.3511A>C (p.Ile1171Leu) | |
19 | g.7120729T= | CA2320765545 | INSR | c.3550A= (p.Ile1184=) c.3514A= (p.Ile1172=) n.461A= c.3625A= (p.Ile1209=) c.3589A= (p.Ile1197=) c.3547A= (p.Ile1183=) c.3511A= (p.Ile1171=) | |
19 | g.7120730G>A | CA505216721 | INSR | c.3549C>T (p.Asp1183=) c.3513C>T (p.Asp1171=) n.460C>T c.3624C>T (p.Asp1208=) c.3588C>T (p.Asp1196=) c.3546C>T (p.Asp1182=) c.3510C>T (p.Asp1170=) | |
19 | g.7120730G>C | CA403669555 | INSR | c.3549C>G (p.Asp1183Glu) c.3513C>G (p.Asp1171Glu) n.460C>G c.3624C>G (p.Asp1208Glu) c.3588C>G (p.Asp1196Glu) c.3546C>G (p.Asp1182Glu) c.3510C>G (p.Asp1170Glu) | |
19 | g.7120730G>T | CA403669556 | INSR | c.3549C>A (p.Asp1183Glu) c.3513C>A (p.Asp1171Glu) n.460C>A c.3624C>A (p.Asp1208Glu) c.3588C>A (p.Asp1196Glu) c.3546C>A (p.Asp1182Glu) c.3510C>A (p.Asp1170Glu) | |
19 | g.7120731T>A | CA403669558 | INSR | c.3548A>T (p.Asp1183Val) c.3512A>T (p.Asp1171Val) n.459A>T c.3623A>T (p.Asp1208Val) c.3587A>T (p.Asp1196Val) c.3545A>T (p.Asp1182Val) c.3509A>T (p.Asp1170Val) | |
19 | g.7120731T>C | CA403669559 | INSR | c.3548A>G (p.Asp1183Gly) c.3512A>G (p.Asp1171Gly) n.459A>G c.3623A>G (p.Asp1208Gly) c.3587A>G (p.Asp1196Gly) c.3545A>G (p.Asp1182Gly) c.3509A>G (p.Asp1170Gly) | |
19 | g.7120731T>G | CA403669557 | INSR | c.3548A>C (p.Asp1183Ala) c.3512A>C (p.Asp1171Ala) n.459A>C c.3623A>C (p.Asp1208Ala) c.3587A>C (p.Asp1196Ala) c.3545A>C (p.Asp1182Ala) c.3509A>C (p.Asp1170Ala) | |
19 | g.7120732C>A | CA403669562 | INSR | c.3547G>T (p.Asp1183Tyr) c.3511G>T (p.Asp1171Tyr) n.458G>T c.3622G>T (p.Asp1208Tyr) c.3586G>T (p.Asp1196Tyr) c.3544G>T (p.Asp1182Tyr) c.3508G>T (p.Asp1170Tyr) | |
19 | g.7120732C>G | CA403669560 | INSR | c.3547G>C (p.Asp1183His) c.3511G>C (p.Asp1171His) n.458G>C c.3622G>C (p.Asp1208His) c.3586G>C (p.Asp1196His) c.3544G>C (p.Asp1182His) c.3508G>C (p.Asp1170His) | |
19 | g.7120732C>T | CA403669561 | INSR | c.3547G>A (p.Asp1183Asn) c.3511G>A (p.Asp1171Asn) n.458G>A c.3622G>A (p.Asp1208Asn) c.3586G>A (p.Asp1196Asn) c.3544G>A (p.Asp1182Asn) c.3508G>A (p.Asp1170Asn) | |
19 | g.7120733T>A | CA403669563 | INSR | c.3546A>T (p.Arg1182Ser) c.3510A>T (p.Arg1170Ser) n.457A>T c.3621A>T (p.Arg1207Ser) c.3585A>T (p.Arg1195Ser) c.3543A>T (p.Arg1181Ser) c.3507A>T (p.Arg1169Ser) | |
19 | g.7120733T>C | CA505216723 | INSR | c.3546A>G (p.Arg1182=) c.3510A>G (p.Arg1170=) n.457A>G c.3621A>G (p.Arg1207=) c.3585A>G (p.Arg1195=) c.3543A>G (p.Arg1181=) c.3507A>G (p.Arg1169=) | |
19 | g.7120733T>G | CA403669564 | INSR | c.3546A>C (p.Arg1182Ser) c.3510A>C (p.Arg1170Ser) n.457A>C c.3621A>C (p.Arg1207Ser) c.3585A>C (p.Arg1195Ser) c.3543A>C (p.Arg1181Ser) c.3507A>C (p.Arg1169Ser) | |
19 | g.7120734C>A | CA403669565 | INSR | c.3545G>T (p.Arg1182Ile) c.3509G>T (p.Arg1170Ile) n.456G>T c.3620G>T (p.Arg1207Ile) c.3584G>T (p.Arg1195Ile) c.3542G>T (p.Arg1181Ile) c.3506G>T (p.Arg1169Ile) | |
19 | g.7120734C>G | CA403669566 | INSR | c.3545G>C (p.Arg1182Thr) c.3509G>C (p.Arg1170Thr) n.456G>C c.3620G>C (p.Arg1207Thr) c.3584G>C (p.Arg1195Thr) c.3542G>C (p.Arg1181Thr) c.3506G>C (p.Arg1169Thr) | |
19 | g.7120734C>T | CA403669567 | INSR | c.3545G>A (p.Arg1182Lys) c.3509G>A (p.Arg1170Lys) n.456G>A c.3620G>A (p.Arg1207Lys) c.3584G>A (p.Arg1195Lys) c.3542G>A (p.Arg1181Lys) c.3506G>A (p.Arg1169Lys) | |
19 | g.7120735T>A | CA403669568 | INSR | c.3544A>T (p.Arg1182Ter) c.3508A>T (p.Arg1170Ter) n.455A>T c.3619A>T (p.Arg1207Ter) c.3583A>T (p.Arg1195Ter) c.3541A>T (p.Arg1181Ter) c.3505A>T (p.Arg1169Ter) | |
19 | g.7120735T>C | CA403669569 | INSR | c.3544A>G (p.Arg1182Gly) c.3508A>G (p.Arg1170Gly) n.455A>G c.3619A>G (p.Arg1207Gly) c.3583A>G (p.Arg1195Gly) c.3541A>G (p.Arg1181Gly) c.3505A>G (p.Arg1169Gly) | |
19 | g.7120735T>G | CA505216724 | INSR | c.3544A>C (p.Arg1182=) c.3508A>C (p.Arg1170=) n.455A>C c.3619A>C (p.Arg1207=) c.3583A>C (p.Arg1195=) c.3541A>C (p.Arg1181=) c.3505A>C (p.Arg1169=) | |
19 | g.7120736G>A | CA505216727 | INSR | c.3543C>T (p.Thr1181=) c.3507C>T (p.Thr1169=) n.454C>T c.3618C>T (p.Thr1206=) c.3582C>T (p.Thr1194=) c.3540C>T (p.Thr1180=) c.3504C>T (p.Thr1168=) | |
19 | g.7120736G>C | CA505216726 | INSR | c.3543C>G (p.Thr1181=) c.3507C>G (p.Thr1169=) n.454C>G c.3618C>G (p.Thr1206=) c.3582C>G (p.Thr1194=) c.3540C>G (p.Thr1180=) c.3504C>G (p.Thr1168=) | |
19 | g.7120736G>T | CA505216725 | INSR | c.3543C>A (p.Thr1181=) c.3507C>A (p.Thr1169=) n.454C>A c.3618C>A (p.Thr1206=) c.3582C>A (p.Thr1194=) c.3540C>A (p.Thr1180=) c.3504C>A (p.Thr1168=) | gnomAD v4 |
19 | g.7120737G>A | CA403669570 | INSR | c.3542C>T (p.Thr1181Ile) c.3506C>T (p.Thr1169Ile) n.453C>T c.3617C>T (p.Thr1206Ile) c.3581C>T (p.Thr1194Ile) c.3539C>T (p.Thr1180Ile) c.3503C>T (p.Thr1168Ile) | |
19 | g.7120737G>C | CA403669571 | INSR | c.3542C>G (p.Thr1181Ser) c.3506C>G (p.Thr1169Ser) n.453C>G c.3617C>G (p.Thr1206Ser) c.3581C>G (p.Thr1194Ser) c.3539C>G (p.Thr1180Ser) c.3503C>G (p.Thr1168Ser) | |
19 | g.7120737G>T | CA403669572 | INSR | c.3542C>A (p.Thr1181Asn) c.3506C>A (p.Thr1169Asn) n.453C>A c.3617C>A (p.Thr1206Asn) c.3581C>A (p.Thr1194Asn) c.3539C>A (p.Thr1180Asn) c.3503C>A (p.Thr1168Asn) | |
19 | g.7120738T>A | CA403669575 | INSR | c.3541A>T (p.Thr1181Ser) c.3505A>T (p.Thr1169Ser) n.452A>T c.3616A>T (p.Thr1206Ser) c.3580A>T (p.Thr1194Ser) c.3538A>T (p.Thr1180Ser) c.3502A>T (p.Thr1168Ser) | |
19 | g.7120738T>C | CA403669574 | INSR | c.3541A>G (p.Thr1181Ala) c.3505A>G (p.Thr1169Ala) n.452A>G c.3616A>G (p.Thr1206Ala) c.3580A>G (p.Thr1194Ala) c.3538A>G (p.Thr1180Ala) c.3502A>G (p.Thr1168Ala) | gnomAD v4 |
19 | g.7120738T>G | CA403669573 | INSR | c.3541A>C (p.Thr1181Pro) c.3505A>C (p.Thr1169Pro) n.452A>C c.3616A>C (p.Thr1206Pro) c.3580A>C (p.Thr1194Pro) c.3538A>C (p.Thr1180Pro) c.3502A>C (p.Thr1168Pro) | |
19 | g.7120739C>A | CA403669576 | INSR | c.3540G>T (p.Met1180Ile) c.3504G>T (p.Met1168Ile) n.451G>T c.3615G>T (p.Met1205Ile) c.3579G>T (p.Met1193Ile) c.3537G>T (p.Met1179Ile) c.3501G>T (p.Met1167Ile) | gnomAD v4 |
19 | g.7120739C= | CA2320765546 | INSR | c.3540G= (p.Met1180=) c.3504G= (p.Met1168=) n.451G= c.3615G= (p.Met1205=) c.3579G= (p.Met1193=) c.3537G= (p.Met1179=) c.3501G= (p.Met1167=) | |
19 | g.7120739C>G | CA403669577 | INSR | c.3540G>C (p.Met1180Ile) c.3504G>C (p.Met1168Ile) n.451G>C c.3615G>C (p.Met1205Ile) c.3579G>C (p.Met1193Ile) c.3537G>C (p.Met1179Ile) c.3501G>C (p.Met1167Ile) | |
19 | g.7120739C>T | CA124266 | INSR | c.3540G>A (p.Met1180Ile) c.3504G>A (p.Met1168Ile) n.451G>A c.3615G>A (p.Met1205Ile) c.3579G>A (p.Met1193Ile) c.3537G>A (p.Met1179Ile) c.3501G>A (p.Met1167Ile) | ClinVar dbSNP |
19 | g.7120740A= | CA2320765547 | INSR | c.3539T= (p.Met1180=) c.3503T= (p.Met1168=) n.450T= c.3614T= (p.Met1205=) c.3578T= (p.Met1193=) c.3536T= (p.Met1179=) c.3500T= (p.Met1167=) | |
19 | g.7120740A>C | CA403669578 | INSR | c.3539T>G (p.Met1180Arg) c.3503T>G (p.Met1168Arg) n.450T>G c.3614T>G (p.Met1205Arg) c.3578T>G (p.Met1193Arg) c.3536T>G (p.Met1179Arg) c.3500T>G (p.Met1167Arg) | |
19 | g.7120740A>G | CA403669579 | INSR | c.3539T>C (p.Met1180Thr) c.3503T>C (p.Met1168Thr) n.450T>C c.3614T>C (p.Met1205Thr) c.3578T>C (p.Met1193Thr) c.3536T>C (p.Met1179Thr) c.3500T>C (p.Met1167Thr) | |
19 | g.7120740A>T | CA403669580 | INSR | c.3539T>A (p.Met1180Lys) c.3503T>A (p.Met1168Lys) n.450T>A c.3614T>A (p.Met1205Lys) c.3578T>A (p.Met1193Lys) c.3536T>A (p.Met1179Lys) c.3500T>A (p.Met1167Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7120741T>A | CA403669582 | INSR | c.3538A>T (p.Met1180Leu) c.3502A>T (p.Met1168Leu) n.449A>T c.3613A>T (p.Met1205Leu) c.3577A>T (p.Met1193Leu) c.3535A>T (p.Met1179Leu) c.3499A>T (p.Met1167Leu) | |
19 | g.7120741T>C | CA403669584 | INSR | c.3538A>G (p.Met1180Val) c.3502A>G (p.Met1168Val) n.449A>G c.3613A>G (p.Met1205Val) c.3577A>G (p.Met1193Val) c.3535A>G (p.Met1179Val) c.3499A>G (p.Met1167Val) | |
19 | g.7120741T>G | CA403669585 | INSR | c.3538A>C (p.Met1180Leu) c.3502A>C (p.Met1168Leu) n.449A>C c.3613A>C (p.Met1205Leu) c.3577A>C (p.Met1193Leu) c.3535A>C (p.Met1179Leu) c.3499A>C (p.Met1167Leu) | |
19 | g.7120742T>A | CA505216730 | INSR | c.3537A>T (p.Gly1179=) c.3501A>T (p.Gly1167=) n.448A>T c.3612A>T (p.Gly1204=) c.3576A>T (p.Gly1192=) c.3534A>T (p.Gly1178=) c.3498A>T (p.Gly1166=) | |
19 | g.7120742T>C | CA505216731 | INSR | c.3537A>G (p.Gly1179=) c.3501A>G (p.Gly1167=) n.448A>G c.3612A>G (p.Gly1204=) c.3576A>G (p.Gly1192=) c.3534A>G (p.Gly1178=) c.3498A>G (p.Gly1166=) | |
19 | g.7120742T>G | CA505216732 | INSR | c.3537A>C (p.Gly1179=) c.3501A>C (p.Gly1167=) n.448A>C c.3612A>C (p.Gly1204=) c.3576A>C (p.Gly1192=) c.3534A>C (p.Gly1178=) c.3498A>C (p.Gly1166=) | |
19 | g.7120743C>A | CA403669587 | INSR | c.3536G>T (p.Gly1179Val) c.3500G>T (p.Gly1167Val) n.447G>T c.3611G>T (p.Gly1204Val) c.3575G>T (p.Gly1192Val) c.3533G>T (p.Gly1178Val) c.3497G>T (p.Gly1166Val) | |
19 | g.7120743C>G | CA403669588 | INSR | c.3536G>C (p.Gly1179Ala) c.3500G>C (p.Gly1167Ala) n.447G>C c.3611G>C (p.Gly1204Ala) c.3575G>C (p.Gly1192Ala) c.3533G>C (p.Gly1178Ala) c.3497G>C (p.Gly1166Ala) | |
19 | g.7120743C>T | CA403669590 | INSR | c.3536G>A (p.Gly1179Glu) c.3500G>A (p.Gly1167Glu) n.447G>A c.3611G>A (p.Gly1204Glu) c.3575G>A (p.Gly1192Glu) c.3533G>A (p.Gly1178Glu) c.3497G>A (p.Gly1166Glu) | |
19 | g.7120744C>A | CA403669595 | INSR | c.3535G>T (p.Gly1179Ter) c.3499G>T (p.Gly1167Ter) n.446G>T c.3610G>T (p.Gly1204Ter) c.3574G>T (p.Gly1192Ter) c.3532G>T (p.Gly1178Ter) c.3496G>T (p.Gly1166Ter) | |
19 | g.7120744C>G | CA403669594 | INSR | c.3535G>C (p.Gly1179Arg) c.3499G>C (p.Gly1167Arg) n.446G>C c.3610G>C (p.Gly1204Arg) c.3574G>C (p.Gly1192Arg) c.3532G>C (p.Gly1178Arg) c.3496G>C (p.Gly1166Arg) | |
19 | g.7120744C>T | CA403669592 | INSR | c.3535G>A (p.Gly1179Arg) c.3499G>A (p.Gly1167Arg) n.446G>A c.3610G>A (p.Gly1204Arg) c.3574G>A (p.Gly1192Arg) c.3532G>A (p.Gly1178Arg) c.3496G>A (p.Gly1166Arg) | |
19 | g.7120745A>C | CA403669596 | INSR | c.3534T>G (p.Phe1178Leu) c.3498T>G (p.Phe1166Leu) n.445T>G c.3609T>G (p.Phe1203Leu) c.3573T>G (p.Phe1191Leu) c.3531T>G (p.Phe1177Leu) c.3495T>G (p.Phe1165Leu) | |
19 | g.7120745A>G | CA505216735 | INSR | c.3534T>C (p.Phe1178=) c.3498T>C (p.Phe1166=) n.445T>C c.3609T>C (p.Phe1203=) c.3573T>C (p.Phe1191=) c.3531T>C (p.Phe1177=) c.3495T>C (p.Phe1165=) | dbSNP |
19 | g.7120745A>T | CA403669598 | INSR | c.3534T>A (p.Phe1178Leu) c.3498T>A (p.Phe1166Leu) n.445T>A c.3609T>A (p.Phe1203Leu) c.3573T>A (p.Phe1191Leu) c.3531T>A (p.Phe1177Leu) c.3495T>A (p.Phe1165Leu) | |
19 | g.7120746A>C | CA403669599 | INSR | c.3533T>G (p.Phe1178Cys) c.3497T>G (p.Phe1166Cys) n.444T>G c.3608T>G (p.Phe1203Cys) c.3572T>G (p.Phe1191Cys) c.3530T>G (p.Phe1177Cys) c.3494T>G (p.Phe1165Cys) | |
19 | g.7120746A>G | CA403669601 | INSR | c.3533T>C (p.Phe1178Ser) c.3497T>C (p.Phe1166Ser) n.444T>C c.3608T>C (p.Phe1203Ser) c.3572T>C (p.Phe1191Ser) c.3530T>C (p.Phe1177Ser) c.3494T>C (p.Phe1165Ser) | |
19 | g.7120746A>T | CA403669603 | INSR | c.3533T>A (p.Phe1178Tyr) c.3497T>A (p.Phe1166Tyr) n.444T>A c.3608T>A (p.Phe1203Tyr) c.3572T>A (p.Phe1191Tyr) c.3530T>A (p.Phe1177Tyr) c.3494T>A (p.Phe1165Tyr) | |
19 | g.7120747A>C | CA403669604 | INSR | c.3532T>G (p.Phe1178Val) c.3496T>G (p.Phe1166Val) n.443T>G c.3607T>G (p.Phe1203Val) c.3571T>G (p.Phe1191Val) c.3529T>G (p.Phe1177Val) c.3493T>G (p.Phe1165Val) | |
19 | g.7120747A>G | CA403669606 | INSR | c.3532T>C (p.Phe1178Leu) c.3496T>C (p.Phe1166Leu) n.443T>C c.3607T>C (p.Phe1203Leu) c.3571T>C (p.Phe1191Leu) c.3529T>C (p.Phe1177Leu) c.3493T>C (p.Phe1165Leu) | |
19 | g.7120747A>T | CA403669607 | INSR | c.3532T>A (p.Phe1178Ile) c.3496T>A (p.Phe1166Ile) n.443T>A c.3607T>A (p.Phe1203Ile) c.3571T>A (p.Phe1191Ile) c.3529T>A (p.Phe1177Ile) c.3493T>A (p.Phe1165Ile) | |
19 | g.7120748G>A | CA505216736 | INSR | c.3531C>T (p.Asp1177=) c.3495C>T (p.Asp1165=) n.442C>T c.3606C>T (p.Asp1202=) c.3570C>T (p.Asp1190=) c.3528C>T (p.Asp1176=) c.3492C>T (p.Asp1164=) | gnomAD v4 |
19 | g.7120748G>C | CA403669609 | INSR | c.3531C>G (p.Asp1177Glu) c.3495C>G (p.Asp1165Glu) n.442C>G c.3606C>G (p.Asp1202Glu) c.3570C>G (p.Asp1190Glu) c.3528C>G (p.Asp1176Glu) c.3492C>G (p.Asp1164Glu) | |
19 | g.7120748G>T | CA403669611 | INSR | c.3531C>A (p.Asp1177Glu) c.3495C>A (p.Asp1165Glu) n.442C>A c.3606C>A (p.Asp1202Glu) c.3570C>A (p.Asp1190Glu) c.3528C>A (p.Asp1176Glu) c.3492C>A (p.Asp1164Glu) | |
19 | g.7120749T>A | CA403669612 | INSR | c.3530A>T (p.Asp1177Val) c.3494A>T (p.Asp1165Val) n.441A>T c.3605A>T (p.Asp1202Val) c.3569A>T (p.Asp1190Val) c.3527A>T (p.Asp1176Val) c.3491A>T (p.Asp1164Val) | |
19 | g.7120749T>C | CA403669614 | INSR | c.3530A>G (p.Asp1177Gly) c.3494A>G (p.Asp1165Gly) n.441A>G c.3605A>G (p.Asp1202Gly) c.3569A>G (p.Asp1190Gly) c.3527A>G (p.Asp1176Gly) c.3491A>G (p.Asp1164Gly) | |
19 | g.7120749T>G | CA403669616 | INSR | c.3530A>C (p.Asp1177Ala) c.3494A>C (p.Asp1165Ala) n.441A>C c.3605A>C (p.Asp1202Ala) c.3569A>C (p.Asp1190Ala) c.3527A>C (p.Asp1176Ala) c.3491A>C (p.Asp1164Ala) | |
19 | g.7120750C>A | CA403669621 | INSR | c.3530-1G>T (n.3530-1G>T) c.3494-1G>T (n.3494-1G>T) n.441-1G>T c.3605-1G>T (n.3605-1G>T) c.3569-1G>T (n.3569-1G>T) c.3527-1G>T (n.3527-1G>T) c.3491-1G>T (n.3491-1G>T) | |
19 | g.7120750C>G | CA403669617 | INSR | c.3530-1G>C (n.3530-1G>C) c.3494-1G>C (n.3494-1G>C) n.441-1G>C c.3605-1G>C (n.3605-1G>C) c.3569-1G>C (n.3569-1G>C) c.3527-1G>C (n.3527-1G>C) c.3491-1G>C (n.3491-1G>C) | |
19 | g.7120750C>T | CA403669619 | INSR | c.3530-1G>A (n.3530-1G>A) c.3494-1G>A (n.3494-1G>A) n.441-1G>A c.3605-1G>A (n.3605-1G>A) c.3569-1G>A (n.3569-1G>A) c.3527-1G>A (n.3527-1G>A) c.3491-1G>A (n.3491-1G>A) | |
19 | g.7120751T>A | CA403669623 | INSR | c.3530-2A>T (n.3530-2A>T) c.3494-2A>T (n.3494-2A>T) n.441-2A>T c.3605-2A>T (n.3605-2A>T) c.3569-2A>T (n.3569-2A>T) c.3527-2A>T (n.3527-2A>T) c.3491-2A>T (n.3491-2A>T) | |
19 | g.7120751T>C | CA403669624 | INSR | c.3530-2A>G (n.3530-2A>G) c.3494-2A>G (n.3494-2A>G) n.441-2A>G c.3605-2A>G (n.3605-2A>G) c.3569-2A>G (n.3569-2A>G) c.3527-2A>G (n.3527-2A>G) c.3491-2A>G (n.3491-2A>G) | |
19 | g.7120751T>G | CA403669625 | INSR | c.3530-2A>C (n.3530-2A>C) c.3494-2A>C (n.3494-2A>C) n.441-2A>C c.3605-2A>C (n.3605-2A>C) c.3569-2A>C (n.3569-2A>C) c.3527-2A>C (n.3527-2A>C) c.3491-2A>C (n.3491-2A>C) | |
19 | g.7120752G>A | CA2320765549 | INSR | c.3530-3C>T (n.3530-3C>T) c.3494-3C>T (n.3494-3C>T) n.441-3C>T c.3605-3C>T (n.3605-3C>T) c.3569-3C>T (n.3569-3C>T) c.3527-3C>T (n.3527-3C>T) c.3491-3C>T (n.3491-3C>T) | dbSNP gnomAD v4 |
19 | g.7120752G= | CA2320765548 | INSR | c.3530-3C= (n.3530-3C=) c.3494-3C= (n.3494-3C=) n.441-3C= c.3605-3C= (n.3605-3C=) c.3569-3C= (n.3569-3C=) c.3527-3C= (n.3527-3C=) c.3491-3C= (n.3491-3C=) | |
19 | g.7120752G>T | CA304869662 | INSR | c.3530-3C>A (n.3530-3C>A) c.3494-3C>A (n.3494-3C>A) n.441-3C>A c.3605-3C>A (n.3605-3C>A) c.3569-3C>A (n.3569-3C>A) c.3527-3C>A (n.3527-3C>A) c.3491-3C>A (n.3491-3C>A) | dbSNP |
19 | g.7120753A= | CA2320765550 | INSR | c.3530-4T= (n.3530-4T=) c.3494-4T= (n.3494-4T=) n.441-4T= c.3605-4T= (n.3605-4T=) c.3569-4T= (n.3569-4T=) c.3527-4T= (n.3527-4T=) c.3491-4T= (n.3491-4T=) | |
19 | g.7120753A>C | CA9135215 | INSR | c.3530-4T>G (n.3530-4T>G) c.3494-4T>G (n.3494-4T>G) n.441-4T>G c.3605-4T>G (n.3605-4T>G) c.3569-4T>G (n.3569-4T>G) c.3527-4T>G (n.3527-4T>G) c.3491-4T>G (n.3491-4T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |