| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |