Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
19 | g.7122934A>T | CA403670836 | INSR | c.3314T>A (p.Leu1105Gln) c.3278T>A (p.Leu1093Gln) n.160T>A n.225T>A c.3389T>A (p.Leu1130Gln) c.3353T>A (p.Leu1118Gln) c.3311T>A (p.Leu1104Gln) c.3275T>A (p.Leu1092Gln) | |
19 | g.7122935G>A | CA505217083 | INSR | c.3313C>T (p.Leu1105=) c.3277C>T (p.Leu1093=) n.159C>T n.224C>T c.3388C>T (p.Leu1130=) c.3352C>T (p.Leu1118=) c.3310C>T (p.Leu1104=) c.3274C>T (p.Leu1092=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7122935G>C | CA403670839 | INSR | c.3313C>G (p.Leu1105Val) c.3277C>G (p.Leu1093Val) n.159C>G n.224C>G c.3388C>G (p.Leu1130Val) c.3352C>G (p.Leu1118Val) c.3310C>G (p.Leu1104Val) c.3274C>G (p.Leu1092Val) | |
19 | g.7122935G= | CA2320766505 | INSR | c.3313C= (p.Leu1105=) c.3277C= (p.Leu1093=) n.159C= n.224C= c.3388C= (p.Leu1130=) c.3352C= (p.Leu1118=) c.3310C= (p.Leu1104=) c.3274C= (p.Leu1092=) | |
19 | g.7122935G>T | CA403670840 | INSR | c.3313C>A (p.Leu1105Met) c.3277C>A (p.Leu1093Met) n.159C>A n.224C>A c.3388C>A (p.Leu1130Met) c.3352C>A (p.Leu1118Met) c.3310C>A (p.Leu1104Met) c.3274C>A (p.Leu1092Met) | |
19 | g.7122936C>A | CA403670841 | INSR | c.3312G>T (p.Glu1104Asp) c.3276G>T (p.Glu1092Asp) n.158G>T n.223G>T c.3387G>T (p.Glu1129Asp) c.3351G>T (p.Glu1117Asp) c.3309G>T (p.Glu1103Asp) c.3273G>T (p.Glu1091Asp) | |
19 | g.7122936C= | CA2320766506 | INSR | c.3312G= (p.Glu1104=) c.3276G= (p.Glu1092=) n.158G= n.223G= c.3387G= (p.Glu1129=) c.3351G= (p.Glu1117=) c.3309G= (p.Glu1103=) c.3273G= (p.Glu1091=) | |
19 | g.7122936C>G | CA403670842 | INSR | c.3312G>C (p.Glu1104Asp) c.3276G>C (p.Glu1092Asp) n.158G>C n.223G>C c.3387G>C (p.Glu1129Asp) c.3351G>C (p.Glu1117Asp) c.3309G>C (p.Glu1103Asp) c.3273G>C (p.Glu1091Asp) | |
19 | g.7122936C>T | CA505217084 | INSR | c.3312G>A (p.Glu1104=) c.3276G>A (p.Glu1092=) n.158G>A n.223G>A c.3387G>A (p.Glu1129=) c.3351G>A (p.Glu1117=) c.3309G>A (p.Glu1103=) c.3273G>A (p.Glu1091=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.7122937_7122938dup | CA2587921682 | INSR | c.3311_3312dup (p.Leu1105SerfsTer2) c.3275_3276dup (p.Leu1093SerfsTer2) n.157_158dup n.222_223dup c.3386_3387dup (p.Leu1130SerfsTer2) c.3350_3351dup (p.Leu1118SerfsTer2) c.3308_3309dup (p.Leu1104SerfsTer2) c.3272_3273dup (p.Leu1092SerfsTer2) | gnomAD v4 |
19 | g.7122937T>A | CA403670843 | INSR | c.3311A>T (p.Glu1104Val) c.3275A>T (p.Glu1092Val) n.157A>T n.222A>T c.3386A>T (p.Glu1129Val) c.3350A>T (p.Glu1117Val) c.3308A>T (p.Glu1103Val) c.3272A>T (p.Glu1091Val) | |
19 | g.7122937T>C | CA403670844 | INSR | c.3311A>G (p.Glu1104Gly) c.3275A>G (p.Glu1092Gly) n.157A>G n.222A>G c.3386A>G (p.Glu1129Gly) c.3350A>G (p.Glu1117Gly) c.3308A>G (p.Glu1103Gly) c.3272A>G (p.Glu1091Gly) | |
19 | g.7122937T>G | CA403670845 | INSR | c.3311A>C (p.Glu1104Ala) c.3275A>C (p.Glu1092Ala) n.157A>C n.222A>C c.3386A>C (p.Glu1129Ala) c.3350A>C (p.Glu1117Ala) c.3308A>C (p.Glu1103Ala) c.3272A>C (p.Glu1091Ala) | |
19 | g.7122938C>A | CA403670847 | INSR | c.3310G>T (p.Glu1104Ter) c.3274G>T (p.Glu1092Ter) n.156G>T n.221G>T c.3385G>T (p.Glu1129Ter) c.3349G>T (p.Glu1117Ter) c.3307G>T (p.Glu1103Ter) c.3271G>T (p.Glu1091Ter) | |
19 | g.7122938C>G | CA403670848 | INSR | c.3310G>C (p.Glu1104Gln) c.3274G>C (p.Glu1092Gln) n.156G>C n.221G>C c.3385G>C (p.Glu1129Gln) c.3349G>C (p.Glu1117Gln) c.3307G>C (p.Glu1103Gln) c.3271G>C (p.Glu1091Gln) | |
19 | g.7122938C>T | CA403670849 | INSR | c.3310G>A (p.Glu1104Lys) c.3274G>A (p.Glu1092Lys) n.156G>A n.221G>A c.3385G>A (p.Glu1129Lys) c.3349G>A (p.Glu1117Lys) c.3307G>A (p.Glu1103Lys) c.3271G>A (p.Glu1091Lys) | gnomAD v4 |
19 | g.7122939C>A | CA403670850 | INSR | c.3309G>T (p.Met1103Ile) c.3273G>T (p.Met1091Ile) n.155G>T n.220G>T c.3384G>T (p.Met1128Ile) c.3348G>T (p.Met1116Ile) c.3306G>T (p.Met1102Ile) c.3270G>T (p.Met1090Ile) | gnomAD v4 |
19 | g.7122939C>G | CA403670851 | INSR | c.3309G>C (p.Met1103Ile) c.3273G>C (p.Met1091Ile) n.155G>C n.220G>C c.3384G>C (p.Met1128Ile) c.3348G>C (p.Met1116Ile) c.3306G>C (p.Met1102Ile) c.3270G>C (p.Met1090Ile) | |
19 | g.7122939C>T | CA403670852 | INSR | c.3309G>A (p.Met1103Ile) c.3273G>A (p.Met1091Ile) n.155G>A n.220G>A c.3384G>A (p.Met1128Ile) c.3348G>A (p.Met1116Ile) c.3306G>A (p.Met1102Ile) c.3270G>A (p.Met1090Ile) | |
19 | g.7122940A= | CA2320766507 | INSR | c.3308T= (p.Met1103=) c.3272T= (p.Met1091=) n.154T= n.219T= c.3383T= (p.Met1128=) c.3347T= (p.Met1116=) c.3305T= (p.Met1102=) c.3269T= (p.Met1090=) | |
19 | g.7122940A>C | CA403670855 | INSR | c.3308T>G (p.Met1103Arg) c.3272T>G (p.Met1091Arg) n.154T>G n.219T>G c.3383T>G (p.Met1128Arg) c.3347T>G (p.Met1116Arg) c.3305T>G (p.Met1102Arg) c.3269T>G (p.Met1090Arg) | |
19 | g.7122940A>G | CA403670854 | INSR | c.3308T>C (p.Met1103Thr) c.3272T>C (p.Met1091Thr) n.154T>C n.219T>C c.3383T>C (p.Met1128Thr) c.3347T>C (p.Met1116Thr) c.3305T>C (p.Met1102Thr) c.3269T>C (p.Met1090Thr) | dbSNP gnomAD v2 |
19 | g.7122940A>T | CA403670853 | INSR | c.3308T>A (p.Met1103Lys) c.3272T>A (p.Met1091Lys) n.154T>A n.219T>A c.3383T>A (p.Met1128Lys) c.3347T>A (p.Met1116Lys) c.3305T>A (p.Met1102Lys) c.3269T>A (p.Met1090Lys) | |
19 | g.7122941T>A | CA403670858 | INSR | c.3307A>T (p.Met1103Leu) c.3271A>T (p.Met1091Leu) n.153A>T n.218A>T c.3382A>T (p.Met1128Leu) c.3346A>T (p.Met1116Leu) c.3304A>T (p.Met1102Leu) c.3268A>T (p.Met1090Leu) | |
19 | g.7122941T>C | CA403670856 | INSR | c.3307A>G (p.Met1103Val) c.3271A>G (p.Met1091Val) n.153A>G n.218A>G c.3382A>G (p.Met1128Val) c.3346A>G (p.Met1116Val) c.3304A>G (p.Met1102Val) c.3268A>G (p.Met1090Val) | |
19 | g.7122941T>G | CA403670857 | INSR | c.3307A>C (p.Met1103Leu) c.3271A>C (p.Met1091Leu) n.153A>C n.218A>C c.3382A>C (p.Met1128Leu) c.3346A>C (p.Met1116Leu) c.3304A>C (p.Met1102Leu) c.3268A>C (p.Met1090Leu) | |
19 | g.7122942C>A | CA505217085 | INSR | c.3306G>T (p.Val1102=) c.3270G>T (p.Val1090=) n.152G>T n.217G>T c.3381G>T (p.Val1127=) c.3345G>T (p.Val1115=) c.3303G>T (p.Val1101=) c.3267G>T (p.Val1089=) | gnomAD v4 |
19 | g.7122942C>G | CA505217086 | INSR | c.3306G>C (p.Val1102=) c.3270G>C (p.Val1090=) n.152G>C n.217G>C c.3381G>C (p.Val1127=) c.3345G>C (p.Val1115=) c.3303G>C (p.Val1101=) c.3267G>C (p.Val1089=) | |
19 | g.7122942C>T | CA505217087 | INSR | c.3306G>A (p.Val1102=) c.3270G>A (p.Val1090=) n.152G>A n.217G>A c.3381G>A (p.Val1127=) c.3345G>A (p.Val1115=) c.3303G>A (p.Val1101=) c.3267G>A (p.Val1089=) | |
19 | g.7122943del | CA2587921683 | INSR | c.3305del (p.Val1102GlyfsTer4) c.3269del (p.Val1090GlyfsTer4) n.151del n.216del c.3380del (p.Val1127GlyfsTer4) c.3344del (p.Val1115GlyfsTer4) c.3302del (p.Val1101GlyfsTer4) c.3266del (p.Val1089GlyfsTer4) | gnomAD v4 |
19 | g.7122943A>C | CA403670859 | INSR | c.3305T>G (p.Val1102Gly) c.3269T>G (p.Val1090Gly) n.151T>G n.216T>G c.3380T>G (p.Val1127Gly) c.3344T>G (p.Val1115Gly) c.3302T>G (p.Val1101Gly) c.3266T>G (p.Val1089Gly) | |
19 | g.7122943A>G | CA403670860 | INSR | c.3305T>C (p.Val1102Ala) c.3269T>C (p.Val1090Ala) n.151T>C n.216T>C c.3380T>C (p.Val1127Ala) c.3344T>C (p.Val1115Ala) c.3302T>C (p.Val1101Ala) c.3266T>C (p.Val1089Ala) | |
19 | g.7122943A>T | CA403670861 | INSR | c.3305T>A (p.Val1102Glu) c.3269T>A (p.Val1090Glu) n.151T>A n.216T>A c.3380T>A (p.Val1127Glu) c.3344T>A (p.Val1115Glu) c.3302T>A (p.Val1101Glu) c.3266T>A (p.Val1089Glu) | gnomAD v4 |
19 | g.7122943_7122944delinsAC | CA2320766508 | INSR | c.3304_3305delinsGT (p.Val1102=) c.3268_3269delinsGT (p.Val1090=) n.150_151delinsGT n.215_216delinsGT c.3379_3380delinsGT (p.Val1127=) c.3343_3344delinsGT (p.Val1115=) c.3301_3302delinsGT (p.Val1101=) c.3265_3266delinsGT (p.Val1089=) | |
19 | g.7122944C>A | CA304871666 | INSR | c.3304G>T (p.Val1102Leu) c.3268G>T (p.Val1090Leu) n.150G>T n.215G>T c.3379G>T (p.Val1127Leu) c.3343G>T (p.Val1115Leu) c.3301G>T (p.Val1101Leu) c.3265G>T (p.Val1089Leu) | dbSNP gnomAD v4 |
19 | g.7122944C= | CA2320766509 | INSR | c.3304G= (p.Val1102=) c.3268G= (p.Val1090=) n.150G= n.215G= c.3379G= (p.Val1127=) c.3343G= (p.Val1115=) c.3301G= (p.Val1101=) c.3265G= (p.Val1089=) | |
19 | g.7122944C>G | CA403670863 | INSR | c.3304G>C (p.Val1102Leu) c.3268G>C (p.Val1090Leu) n.150G>C n.215G>C c.3379G>C (p.Val1127Leu) c.3343G>C (p.Val1115Leu) c.3301G>C (p.Val1101Leu) c.3265G>C (p.Val1089Leu) | |
19 | g.7122944C>T | CA403670862 | INSR | c.3304G>A (p.Val1102Met) c.3268G>A (p.Val1090Met) n.150G>A n.215G>A c.3379G>A (p.Val1127Met) c.3343G>A (p.Val1115Met) c.3301G>A (p.Val1101Met) c.3265G>A (p.Val1089Met) | |
19 | g.7122945del | CA631723654 | INSR | c.3304del (p.Val1102Ter) c.3268del (p.Val1090Ter) n.150del n.215del c.3379del (p.Val1127Ter) c.3343del (p.Val1115Ter) c.3301del (p.Val1101Ter) c.3265del (p.Val1089Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7122945C>A | CA505217090 | INSR | c.3303G>T (p.Val1101=) c.3267G>T (p.Val1089=) n.149G>T n.214G>T c.3378G>T (p.Val1126=) c.3342G>T (p.Val1114=) c.3300G>T (p.Val1100=) c.3264G>T (p.Val1088=) | gnomAD v4 |
19 | g.7122945C>G | CA505217089 | INSR | c.3303G>C (p.Val1101=) c.3267G>C (p.Val1089=) n.149G>C n.214G>C c.3378G>C (p.Val1126=) c.3342G>C (p.Val1114=) c.3300G>C (p.Val1100=) c.3264G>C (p.Val1088=) | |
19 | g.7122945C>T | CA505217088 | INSR | c.3303G>A (p.Val1101=) c.3267G>A (p.Val1089=) n.149G>A n.214G>A c.3378G>A (p.Val1126=) c.3342G>A (p.Val1114=) c.3300G>A (p.Val1100=) c.3264G>A (p.Val1088=) | gnomAD v4 |
19 | g.7122946A>C | CA403670864 | INSR | c.3302T>G (p.Val1101Gly) c.3266T>G (p.Val1089Gly) n.148T>G n.213T>G c.3377T>G (p.Val1126Gly) c.3341T>G (p.Val1114Gly) c.3299T>G (p.Val1100Gly) c.3263T>G (p.Val1088Gly) | |
19 | g.7122946A>G | CA403670865 | INSR | c.3302T>C (p.Val1101Ala) c.3266T>C (p.Val1089Ala) n.148T>C n.213T>C c.3377T>C (p.Val1126Ala) c.3341T>C (p.Val1114Ala) c.3299T>C (p.Val1100Ala) c.3263T>C (p.Val1088Ala) | |
19 | g.7122946A>T | CA403670866 | INSR | c.3302T>A (p.Val1101Glu) c.3266T>A (p.Val1089Glu) n.148T>A n.213T>A c.3377T>A (p.Val1126Glu) c.3341T>A (p.Val1114Glu) c.3299T>A (p.Val1100Glu) c.3263T>A (p.Val1088Glu) | |
19 | g.7122947C>A | CA403670867 | INSR | c.3301G>T (p.Val1101Leu) c.3265G>T (p.Val1089Leu) n.147G>T n.212G>T c.3376G>T (p.Val1126Leu) c.3340G>T (p.Val1114Leu) c.3298G>T (p.Val1100Leu) c.3262G>T (p.Val1088Leu) | |
19 | g.7122947C>G | CA403670868 | INSR | c.3301G>C (p.Val1101Leu) c.3265G>C (p.Val1089Leu) n.147G>C n.212G>C c.3376G>C (p.Val1126Leu) c.3340G>C (p.Val1114Leu) c.3298G>C (p.Val1100Leu) c.3262G>C (p.Val1088Leu) | |
19 | g.7122947C>T | CA403670869 | INSR | c.3301G>A (p.Val1101Met) c.3265G>A (p.Val1089Met) n.147G>A n.212G>A c.3376G>A (p.Val1126Met) c.3340G>A (p.Val1114Met) c.3298G>A (p.Val1100Met) c.3262G>A (p.Val1088Met) | gnomAD v4 |