| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7122920C>A | CA403670805 | INSR | c.3328G>T (p.Asp1110Tyr) c.3292G>T (p.Asp1098Tyr) n.174G>T n.239G>T c.3403G>T (p.Asp1135Tyr) c.3367G>T (p.Asp1123Tyr) c.3325G>T (p.Asp1109Tyr) c.3289G>T (p.Asp1097Tyr) | |
| 19 | g.7122920C>G | CA403670806 | INSR | c.3328G>C (p.Asp1110His) c.3292G>C (p.Asp1098His) n.174G>C n.239G>C c.3403G>C (p.Asp1135His) c.3367G>C (p.Asp1123His) c.3325G>C (p.Asp1109His) c.3289G>C (p.Asp1097His) | |
| 19 | g.7122920C>T | CA403670807 | INSR | c.3328G>A (p.Asp1110Asn) c.3292G>A (p.Asp1098Asn) n.174G>A n.239G>A c.3403G>A (p.Asp1135Asn) c.3367G>A (p.Asp1123Asn) c.3325G>A (p.Asp1109Asn) c.3289G>A (p.Asp1097Asn) | |
| 19 | g.7122921T>A | CA505217074 | INSR | c.3327A>T (p.Gly1109=) c.3291A>T (p.Gly1097=) n.173A>T n.238A>T c.3402A>T (p.Gly1134=) c.3366A>T (p.Gly1122=) c.3324A>T (p.Gly1108=) c.3288A>T (p.Gly1096=) | |
| 19 | g.7122921T>C | CA505217075 | INSR | c.3327A>G (p.Gly1109=) c.3291A>G (p.Gly1097=) n.173A>G n.238A>G c.3402A>G (p.Gly1134=) c.3366A>G (p.Gly1122=) c.3324A>G (p.Gly1108=) c.3288A>G (p.Gly1096=) | dbSNP gnomAD v4 |
| 19 | g.7122921T>G | CA505217076 | INSR | c.3327A>C (p.Gly1109=) c.3291A>C (p.Gly1097=) n.173A>C n.238A>C c.3402A>C (p.Gly1134=) c.3366A>C (p.Gly1122=) c.3324A>C (p.Gly1108=) c.3288A>C (p.Gly1096=) | |
| 19 | g.7122921T= | CA2320766499 | INSR | c.3327A= (p.Gly1109=) c.3291A= (p.Gly1097=) n.173A= n.238A= c.3402A= (p.Gly1134=) c.3366A= (p.Gly1122=) c.3324A= (p.Gly1108=) c.3288A= (p.Gly1096=) | |
| 19 | g.7122922C>A | CA403670808 | INSR | c.3326G>T (p.Gly1109Val) c.3290G>T (p.Gly1097Val) n.172G>T n.237G>T c.3401G>T (p.Gly1134Val) c.3365G>T (p.Gly1122Val) c.3323G>T (p.Gly1108Val) c.3287G>T (p.Gly1096Val) | |
| 19 | g.7122922C>G | CA403670809 | INSR | c.3326G>C (p.Gly1109Ala) c.3290G>C (p.Gly1097Ala) n.172G>C n.237G>C c.3401G>C (p.Gly1134Ala) c.3365G>C (p.Gly1122Ala) c.3323G>C (p.Gly1108Ala) c.3287G>C (p.Gly1096Ala) | |
| 19 | g.7122922C>T | CA403670810 | INSR | c.3326G>A (p.Gly1109Glu) c.3290G>A (p.Gly1097Glu) n.172G>A n.237G>A c.3401G>A (p.Gly1134Glu) c.3365G>A (p.Gly1122Glu) c.3323G>A (p.Gly1108Glu) c.3287G>A (p.Gly1096Glu) | |
| 19 | g.7122923C>A | CA403670811 | INSR | c.3325G>T (p.Gly1109Ter) c.3289G>T (p.Gly1097Ter) n.171G>T n.236G>T c.3400G>T (p.Gly1134Ter) c.3364G>T (p.Gly1122Ter) c.3322G>T (p.Gly1108Ter) c.3286G>T (p.Gly1096Ter) | |
| 19 | g.7122923C>G | CA403670813 | INSR | c.3325G>C (p.Gly1109Arg) c.3289G>C (p.Gly1097Arg) n.171G>C n.236G>C c.3400G>C (p.Gly1134Arg) c.3364G>C (p.Gly1122Arg) c.3322G>C (p.Gly1108Arg) c.3286G>C (p.Gly1096Arg) | |
| 19 | g.7122923C>T | CA403670812 | INSR | c.3325G>A (p.Gly1109Arg) c.3289G>A (p.Gly1097Arg) n.171G>A n.236G>A c.3400G>A (p.Gly1134Arg) c.3364G>A (p.Gly1122Arg) c.3322G>A (p.Gly1108Arg) c.3286G>A (p.Gly1096Arg) | gnomAD v4 |
| 19 | g.7122924G>A | CA9135303 | INSR | c.3324C>T (p.His1108=) c.3288C>T (p.His1096=) n.170C>T n.235C>T c.3399C>T (p.His1133=) c.3363C>T (p.His1121=) c.3321C>T (p.His1107=) c.3285C>T (p.His1095=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7122924G>C | CA403670814 | INSR | c.3324C>G (p.His1108Gln) c.3288C>G (p.His1096Gln) n.170C>G n.235C>G c.3399C>G (p.His1133Gln) c.3363C>G (p.His1121Gln) c.3321C>G (p.His1107Gln) c.3285C>G (p.His1095Gln) | |
| 19 | g.7122924G= | CA2320766500 | INSR | c.3324C= (p.His1108=) c.3288C= (p.His1096=) n.170C= n.235C= c.3399C= (p.His1133=) c.3363C= (p.His1121=) c.3321C= (p.His1107=) c.3285C= (p.His1095=) | |
| 19 | g.7122924G>T | CA403670815 | INSR | c.3324C>A (p.His1108Gln) c.3288C>A (p.His1096Gln) n.170C>A n.235C>A c.3399C>A (p.His1133Gln) c.3363C>A (p.His1121Gln) c.3321C>A (p.His1107Gln) c.3285C>A (p.His1095Gln) | gnomAD v4 |
| 19 | g.7122925T>A | CA403670816 | INSR | c.3323A>T (p.His1108Leu) c.3287A>T (p.His1096Leu) n.169A>T n.234A>T c.3398A>T (p.His1133Leu) c.3362A>T (p.His1121Leu) c.3320A>T (p.His1107Leu) c.3284A>T (p.His1095Leu) | |
| 19 | g.7122925T>C | CA403670817 | INSR | c.3323A>G (p.His1108Arg) c.3287A>G (p.His1096Arg) n.169A>G n.234A>G c.3398A>G (p.His1133Arg) c.3362A>G (p.His1121Arg) c.3320A>G (p.His1107Arg) c.3284A>G (p.His1095Arg) | |
| 19 | g.7122925T>G | CA403670818 | INSR | c.3323A>C (p.His1108Pro) c.3287A>C (p.His1096Pro) n.169A>C n.234A>C c.3398A>C (p.His1133Pro) c.3362A>C (p.His1121Pro) c.3320A>C (p.His1107Pro) c.3284A>C (p.His1095Pro) | |
| 19 | g.7122926G>A | CA403670819 | INSR | c.3322C>T (p.His1108Tyr) c.3286C>T (p.His1096Tyr) n.168C>T n.233C>T c.3397C>T (p.His1133Tyr) c.3361C>T (p.His1121Tyr) c.3319C>T (p.His1107Tyr) c.3283C>T (p.His1095Tyr) | gnomAD v4 |
| 19 | g.7122926G>C | CA403670820 | INSR | c.3322C>G (p.His1108Asp) c.3286C>G (p.His1096Asp) n.168C>G n.233C>G c.3397C>G (p.His1133Asp) c.3361C>G (p.His1121Asp) c.3319C>G (p.His1107Asp) c.3283C>G (p.His1095Asp) | |
| 19 | g.7122926G>T | CA403670821 | INSR | c.3322C>A (p.His1108Asn) c.3286C>A (p.His1096Asn) n.168C>A n.233C>A c.3397C>A (p.His1133Asn) c.3361C>A (p.His1121Asn) c.3319C>A (p.His1107Asn) c.3283C>A (p.His1095Asn) | |
| 19 | g.7122927A= | CA2320766501 | INSR | c.3321T= (p.Ala1107=) c.3285T= (p.Ala1095=) n.167T= n.232T= c.3396T= (p.Ala1132=) c.3360T= (p.Ala1120=) c.3318T= (p.Ala1106=) c.3282T= (p.Ala1094=) | |
| 19 | g.7122927A>C | CA505217077 | INSR | c.3321T>G (p.Ala1107=) c.3285T>G (p.Ala1095=) n.167T>G n.232T>G c.3396T>G (p.Ala1132=) c.3360T>G (p.Ala1120=) c.3318T>G (p.Ala1106=) c.3282T>G (p.Ala1094=) | |
| 19 | g.7122927A>G | CA505217078 | INSR | c.3321T>C (p.Ala1107=) c.3285T>C (p.Ala1095=) n.167T>C n.232T>C c.3396T>C (p.Ala1132=) c.3360T>C (p.Ala1120=) c.3318T>C (p.Ala1106=) c.3282T>C (p.Ala1094=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7122927A>T | CA505217079 | INSR | c.3321T>A (p.Ala1107=) c.3285T>A (p.Ala1095=) n.167T>A n.232T>A c.3396T>A (p.Ala1132=) c.3360T>A (p.Ala1120=) c.3318T>A (p.Ala1106=) c.3282T>A (p.Ala1094=) | |
| 19 | g.7122928G>A | CA9135304 | INSR | c.3320C>T (p.Ala1107Val) c.3284C>T (p.Ala1095Val) n.166C>T n.231C>T c.3395C>T (p.Ala1132Val) c.3359C>T (p.Ala1120Val) c.3317C>T (p.Ala1106Val) c.3281C>T (p.Ala1094Val) | dbSNP ExAC gnomAD v2 |
| 19 | g.7122928G>C | CA403670823 | INSR | c.3320C>G (p.Ala1107Gly) c.3284C>G (p.Ala1095Gly) n.166C>G n.231C>G c.3395C>G (p.Ala1132Gly) c.3359C>G (p.Ala1120Gly) c.3317C>G (p.Ala1106Gly) c.3281C>G (p.Ala1094Gly) | |
| 19 | g.7122928G= | CA2320766502 | INSR | c.3320C= (p.Ala1107=) c.3284C= (p.Ala1095=) n.166C= n.231C= c.3395C= (p.Ala1132=) c.3359C= (p.Ala1120=) c.3317C= (p.Ala1106=) c.3281C= (p.Ala1094=) | |
| 19 | g.7122928G>T | CA403670822 | INSR | c.3320C>A (p.Ala1107Asp) c.3284C>A (p.Ala1095Asp) n.166C>A n.231C>A c.3395C>A (p.Ala1132Asp) c.3359C>A (p.Ala1120Asp) c.3317C>A (p.Ala1106Asp) c.3281C>A (p.Ala1094Asp) | |
| 19 | g.7122929C>A | CA403670824 | INSR | c.3319G>T (p.Ala1107Ser) c.3283G>T (p.Ala1095Ser) n.165G>T n.230G>T c.3394G>T (p.Ala1132Ser) c.3358G>T (p.Ala1120Ser) c.3316G>T (p.Ala1106Ser) c.3280G>T (p.Ala1094Ser) | |
| 19 | g.7122929C= | CA2320766503 | INSR | c.3319G= (p.Ala1107=) c.3283G= (p.Ala1095=) n.165G= n.230G= c.3394G= (p.Ala1132=) c.3358G= (p.Ala1120=) c.3316G= (p.Ala1106=) c.3280G= (p.Ala1094=) | |
| 19 | g.7122929C>G | CA403670825 | INSR | c.3319G>C (p.Ala1107Pro) c.3283G>C (p.Ala1095Pro) n.165G>C n.230G>C c.3394G>C (p.Ala1132Pro) c.3358G>C (p.Ala1120Pro) c.3316G>C (p.Ala1106Pro) c.3280G>C (p.Ala1094Pro) | |
| 19 | g.7122929C>T | CA9135305 | INSR | c.3319G>A (p.Ala1107Thr) c.3283G>A (p.Ala1095Thr) n.165G>A n.230G>A c.3394G>A (p.Ala1132Thr) c.3358G>A (p.Ala1120Thr) c.3316G>A (p.Ala1106Thr) c.3280G>A (p.Ala1094Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7122930C>A | CA403670827 | INSR | c.3318G>T (p.Met1106Ile) c.3282G>T (p.Met1094Ile) n.164G>T n.229G>T c.3393G>T (p.Met1131Ile) c.3357G>T (p.Met1119Ile) c.3315G>T (p.Met1105Ile) c.3279G>T (p.Met1093Ile) | gnomAD v4 |
| 19 | g.7122930C>G | CA403670828 | INSR | c.3318G>C (p.Met1106Ile) c.3282G>C (p.Met1094Ile) n.164G>C n.229G>C c.3393G>C (p.Met1131Ile) c.3357G>C (p.Met1119Ile) c.3315G>C (p.Met1105Ile) c.3279G>C (p.Met1093Ile) | |
| 19 | g.7122930C>T | CA403670829 | INSR | c.3318G>A (p.Met1106Ile) c.3282G>A (p.Met1094Ile) n.164G>A n.229G>A c.3393G>A (p.Met1131Ile) c.3357G>A (p.Met1119Ile) c.3315G>A (p.Met1105Ile) c.3279G>A (p.Met1093Ile) | |
| 19 | g.7122931A= | CA2320766504 | INSR | c.3317T= (p.Met1106=) c.3281T= (p.Met1094=) n.163T= n.228T= c.3392T= (p.Met1131=) c.3356T= (p.Met1119=) c.3314T= (p.Met1105=) c.3278T= (p.Met1093=) | |
| 19 | g.7122931A>C | CA403670830 | INSR | c.3317T>G (p.Met1106Arg) c.3281T>G (p.Met1094Arg) n.163T>G n.228T>G c.3392T>G (p.Met1131Arg) c.3356T>G (p.Met1119Arg) c.3314T>G (p.Met1105Arg) c.3278T>G (p.Met1093Arg) | dbSNP |
| 19 | g.7122931A>G | CA403670831 | INSR | c.3317T>C (p.Met1106Thr) c.3281T>C (p.Met1094Thr) n.163T>C n.228T>C c.3392T>C (p.Met1131Thr) c.3356T>C (p.Met1119Thr) c.3314T>C (p.Met1105Thr) c.3278T>C (p.Met1093Thr) | |
| 19 | g.7122931A>T | CA403670832 | INSR | c.3317T>A (p.Met1106Lys) c.3281T>A (p.Met1094Lys) n.163T>A n.228T>A c.3392T>A (p.Met1131Lys) c.3356T>A (p.Met1119Lys) c.3314T>A (p.Met1105Lys) c.3278T>A (p.Met1093Lys) | |
| 19 | g.7122932T>A | CA403670833 | INSR | c.3316A>T (p.Met1106Leu) c.3280A>T (p.Met1094Leu) n.162A>T n.227A>T c.3391A>T (p.Met1131Leu) c.3355A>T (p.Met1119Leu) c.3313A>T (p.Met1105Leu) c.3277A>T (p.Met1093Leu) | gnomAD v4 |
| 19 | g.7122932T>C | CA403670834 | INSR | c.3316A>G (p.Met1106Val) c.3280A>G (p.Met1094Val) n.162A>G n.227A>G c.3391A>G (p.Met1131Val) c.3355A>G (p.Met1119Val) c.3313A>G (p.Met1105Val) c.3277A>G (p.Met1093Val) | |
| 19 | g.7122932T>G | CA403670835 | INSR | c.3316A>C (p.Met1106Leu) c.3280A>C (p.Met1094Leu) n.162A>C n.227A>C c.3391A>C (p.Met1131Leu) c.3355A>C (p.Met1119Leu) c.3313A>C (p.Met1105Leu) c.3277A>C (p.Met1093Leu) | |
| 19 | g.7122933C>A | CA505217082 | INSR | c.3315G>T (p.Leu1105=) c.3279G>T (p.Leu1093=) n.161G>T n.226G>T c.3390G>T (p.Leu1130=) c.3354G>T (p.Leu1118=) c.3312G>T (p.Leu1104=) c.3276G>T (p.Leu1092=) | dbSNP gnomAD v4 |
| 19 | g.7122933C>G | CA505217081 | INSR | c.3315G>C (p.Leu1105=) c.3279G>C (p.Leu1093=) n.161G>C n.226G>C c.3390G>C (p.Leu1130=) c.3354G>C (p.Leu1118=) c.3312G>C (p.Leu1104=) c.3276G>C (p.Leu1092=) | |
| 19 | g.7122933C>T | CA505217080 | INSR | c.3315G>A (p.Leu1105=) c.3279G>A (p.Leu1093=) n.161G>A n.226G>A c.3390G>A (p.Leu1130=) c.3354G>A (p.Leu1118=) c.3312G>A (p.Leu1104=) c.3276G>A (p.Leu1092=) | |
| 19 | g.7122934A>C | CA403670838 | INSR | c.3314T>G (p.Leu1105Arg) c.3278T>G (p.Leu1093Arg) n.160T>G n.225T>G c.3389T>G (p.Leu1130Arg) c.3353T>G (p.Leu1118Arg) c.3311T>G (p.Leu1104Arg) c.3275T>G (p.Leu1092Arg) | |
| 19 | g.7122934A>G | CA403670837 | INSR | c.3314T>C (p.Leu1105Pro) c.3278T>C (p.Leu1093Pro) n.160T>C n.225T>C c.3389T>C (p.Leu1130Pro) c.3353T>C (p.Leu1118Pro) c.3311T>C (p.Leu1104Pro) c.3275T>C (p.Leu1092Pro) |