| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115414089_115416214del | CA2573332827 | TRPS1 | c.2824-1128_3821del c.2785-1128_3782del c.2047-1128_3044del c.2797-1128_3794del c.2803-1128_3800del | |
| 8 | g.115414593G>A | CA462658302 | TRPS1 | c.3315C>T (p.Tyr1105=) c.3276C>T (p.Tyr1092=) c.649C>T c.2538C>T (p.Tyr846=) c.3288C>T (p.Tyr1096=) c.3294C>T (p.Tyr1098=) | gnomAD v4 |
| 8 | g.115414593G>C | CA117612 | TRPS1 | c.3315C>G (p.Tyr1105Ter) c.3276C>G (p.Tyr1092Ter) c.649C>G c.2538C>G (p.Tyr846Ter) c.3288C>G (p.Tyr1096Ter) c.3294C>G (p.Tyr1098Ter) | ClinVar dbSNP |
| 8 | g.115414593G= | CA1812854033 | TRPS1 | c.3315C= (p.Tyr1105=) c.3276C= (p.Tyr1092=) c.649C= c.2538C= (p.Tyr846=) c.3288C= (p.Tyr1096=) c.3294C= (p.Tyr1098=) | |
| 8 | g.115414593G>T | CA372063024 | TRPS1 | c.3315C>A (p.Tyr1105Ter) c.3276C>A (p.Tyr1092Ter) c.649C>A c.2538C>A (p.Tyr846Ter) c.3288C>A (p.Tyr1096Ter) c.3294C>A (p.Tyr1098Ter) | |
| 8 | g.115414594T>A | CA372063025 | TRPS1 | c.3314A>T (p.Tyr1105Phe) c.3275A>T (p.Tyr1092Phe) c.648A>T c.2537A>T (p.Tyr846Phe) c.3287A>T (p.Tyr1096Phe) c.3293A>T (p.Tyr1098Phe) | |
| 8 | g.115414594T>C | CA372063026 | TRPS1 | c.3314A>G (p.Tyr1105Cys) c.3275A>G (p.Tyr1092Cys) c.648A>G c.2537A>G (p.Tyr846Cys) c.3287A>G (p.Tyr1096Cys) c.3293A>G (p.Tyr1098Cys) | gnomAD v4 COSMIC COSMIC |
| 8 | g.115414594T>G | CA372063027 | TRPS1 | c.3314A>C (p.Tyr1105Ser) c.3275A>C (p.Tyr1092Ser) c.648A>C c.2537A>C (p.Tyr846Ser) c.3287A>C (p.Tyr1096Ser) c.3293A>C (p.Tyr1098Ser) | |
| 8 | g.115414595A>C | CA372063028 | TRPS1 | c.3313T>G (p.Tyr1105Asp) c.3274T>G (p.Tyr1092Asp) c.647T>G c.2536T>G (p.Tyr846Asp) c.3286T>G (p.Tyr1096Asp) c.3292T>G (p.Tyr1098Asp) | |
| 8 | g.115414595A>G | CA372063029 | TRPS1 | c.3313T>C (p.Tyr1105His) c.3274T>C (p.Tyr1092His) c.647T>C c.2536T>C (p.Tyr846His) c.3286T>C (p.Tyr1096His) c.3292T>C (p.Tyr1098His) | |
| 8 | g.115414595A>T | CA372063030 | TRPS1 | c.3313T>A (p.Tyr1105Asn) c.3274T>A (p.Tyr1092Asn) c.647T>A c.2536T>A (p.Tyr846Asn) c.3286T>A (p.Tyr1096Asn) c.3292T>A (p.Tyr1098Asn) | |
| 8 | g.115414596C>A | CA372063031 | TRPS1 | c.3312G>T (p.Gln1104His) c.3273G>T (p.Gln1091His) c.646G>T c.2535G>T (p.Gln845His) c.3285G>T (p.Gln1095His) c.3291G>T (p.Gln1097His) | |
| 8 | g.115414596C= | CA1812854037 | TRPS1 | c.3312G= (p.Gln1104=) c.3273G= (p.Gln1091=) c.646G= c.2535G= (p.Gln845=) c.3285G= (p.Gln1095=) c.3291G= (p.Gln1097=) | |
| 8 | g.115414596C>G | CA4851505 | TRPS1 | c.3312G>C (p.Gln1104His) c.3273G>C (p.Gln1091His) c.646G>C c.2535G>C (p.Gln845His) c.3285G>C (p.Gln1095His) c.3291G>C (p.Gln1097His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414596C>T | CA462658305 | TRPS1 | c.3312G>A (p.Gln1104=) c.3273G>A (p.Gln1091=) c.646G>A c.2535G>A (p.Gln845=) c.3285G>A (p.Gln1095=) c.3291G>A (p.Gln1097=) | COSMIC COSMIC |
| 8 | g.115414597T>A | CA372063034 | TRPS1 | c.3311A>T (p.Gln1104Leu) c.3272A>T (p.Gln1091Leu) c.645A>T c.2534A>T (p.Gln845Leu) c.3284A>T (p.Gln1095Leu) c.3290A>T (p.Gln1097Leu) | |
| 8 | g.115414597T>C | CA372063033 | TRPS1 | c.3311A>G (p.Gln1104Arg) c.3272A>G (p.Gln1091Arg) c.645A>G c.2534A>G (p.Gln845Arg) c.3284A>G (p.Gln1095Arg) c.3290A>G (p.Gln1097Arg) | gnomAD v4 |
| 8 | g.115414597T>G | CA372063032 | TRPS1 | c.3311A>C (p.Gln1104Pro) c.3272A>C (p.Gln1091Pro) c.645A>C c.2534A>C (p.Gln845Pro) c.3284A>C (p.Gln1095Pro) c.3290A>C (p.Gln1097Pro) | |
| 8 | g.115414598G>A | CA372063035 | TRPS1 | c.3310C>T (p.Gln1104Ter) c.3271C>T (p.Gln1091Ter) c.644C>T c.2533C>T (p.Gln845Ter) c.3283C>T (p.Gln1095Ter) c.3289C>T (p.Gln1097Ter) | COSMIC COSMIC |
| 8 | g.115414598G>C | CA372063036 | TRPS1 | c.3310C>G (p.Gln1104Glu) c.3271C>G (p.Gln1091Glu) c.644C>G c.2533C>G (p.Gln845Glu) c.3283C>G (p.Gln1095Glu) c.3289C>G (p.Gln1097Glu) | |
| 8 | g.115414598G>T | CA372063037 | TRPS1 | c.3310C>A (p.Gln1104Lys) c.3271C>A (p.Gln1091Lys) c.644C>A c.2533C>A (p.Gln845Lys) c.3283C>A (p.Gln1095Lys) c.3289C>A (p.Gln1097Lys) | |
| 8 | g.115414599G>A | CA462658307 | TRPS1 | c.3309C>T (p.Tyr1103=) c.3270C>T (p.Tyr1090=) c.643C>T c.2532C>T (p.Tyr844=) c.3282C>T (p.Tyr1094=) c.3288C>T (p.Tyr1096=) | |
| 8 | g.115414599G>C | CA372063038 | TRPS1 | c.3309C>G (p.Tyr1103Ter) c.3270C>G (p.Tyr1090Ter) c.643C>G c.2532C>G (p.Tyr844Ter) c.3282C>G (p.Tyr1094Ter) c.3288C>G (p.Tyr1096Ter) | |
| 8 | g.115414599G>T | CA372063039 | TRPS1 | c.3309C>A (p.Tyr1103Ter) c.3270C>A (p.Tyr1090Ter) c.643C>A c.2532C>A (p.Tyr844Ter) c.3282C>A (p.Tyr1094Ter) c.3288C>A (p.Tyr1096Ter) | |
| 8 | g.115414600T>A | CA372063040 | TRPS1 | c.3308A>T (p.Tyr1103Phe) c.3269A>T (p.Tyr1090Phe) c.642A>T c.2531A>T (p.Tyr844Phe) c.3281A>T (p.Tyr1094Phe) c.3287A>T (p.Tyr1096Phe) | |
| 8 | g.115414600T>C | CA372063041 | TRPS1 | c.3308A>G (p.Tyr1103Cys) c.3269A>G (p.Tyr1090Cys) c.642A>G c.2531A>G (p.Tyr844Cys) c.3281A>G (p.Tyr1094Cys) c.3287A>G (p.Tyr1096Cys) | dbSNP |
| 8 | g.115414600T>G | CA372063042 | TRPS1 | c.3308A>C (p.Tyr1103Ser) c.3269A>C (p.Tyr1090Ser) c.642A>C c.2531A>C (p.Tyr844Ser) c.3281A>C (p.Tyr1094Ser) c.3287A>C (p.Tyr1096Ser) | |
| 8 | g.115414601A>C | CA372063043 | TRPS1 | c.3307T>G (p.Tyr1103Asp) c.3268T>G (p.Tyr1090Asp) c.641T>G c.2530T>G (p.Tyr844Asp) c.3280T>G (p.Tyr1094Asp) c.3286T>G (p.Tyr1096Asp) | |
| 8 | g.115414601A>G | CA372063044 | TRPS1 | c.3307T>C (p.Tyr1103His) c.3268T>C (p.Tyr1090His) c.641T>C c.2530T>C (p.Tyr844His) c.3280T>C (p.Tyr1094His) c.3286T>C (p.Tyr1096His) | gnomAD v4 |
| 8 | g.115414601A>T | CA372063045 | TRPS1 | c.3307T>A (p.Tyr1103Asn) c.3268T>A (p.Tyr1090Asn) c.641T>A c.2530T>A (p.Tyr844Asn) c.3280T>A (p.Tyr1094Asn) c.3286T>A (p.Tyr1096Asn) | |
| 8 | g.115414602C>A | CA372063046 | TRPS1 | c.3306G>T (p.Lys1102Asn) c.3267G>T (p.Lys1089Asn) c.640G>T c.2529G>T (p.Lys843Asn) c.3279G>T (p.Lys1093Asn) c.3285G>T (p.Lys1095Asn) | |
| 8 | g.115414602C>G | CA372063047 | TRPS1 | c.3306G>C (p.Lys1102Asn) c.3267G>C (p.Lys1089Asn) c.640G>C c.2529G>C (p.Lys843Asn) c.3279G>C (p.Lys1093Asn) c.3285G>C (p.Lys1095Asn) | |
| 8 | g.115414602C>T | CA462658309 | TRPS1 | c.3306G>A (p.Lys1102=) c.3267G>A (p.Lys1089=) c.640G>A c.2529G>A (p.Lys843=) c.3279G>A (p.Lys1093=) c.3285G>A (p.Lys1095=) | |
| 8 | g.115414603T>A | CA372063049 | TRPS1 | c.3305A>T (p.Lys1102Met) c.3266A>T (p.Lys1089Met) c.639A>T c.2528A>T (p.Lys843Met) c.3278A>T (p.Lys1093Met) c.3284A>T (p.Lys1095Met) | |
| 8 | g.115414603T>C | CA372063050 | TRPS1 | c.3305A>G (p.Lys1102Arg) c.3266A>G (p.Lys1089Arg) c.639A>G c.2528A>G (p.Lys843Arg) c.3278A>G (p.Lys1093Arg) c.3284A>G (p.Lys1095Arg) | |
| 8 | g.115414603T>G | CA372063048 | TRPS1 | c.3305A>C (p.Lys1102Thr) c.3266A>C (p.Lys1089Thr) c.639A>C c.2528A>C (p.Lys843Thr) c.3278A>C (p.Lys1093Thr) c.3284A>C (p.Lys1095Thr) | |
| 8 | g.115414604T>A | CA372063051 | TRPS1 | c.3304A>T (p.Lys1102Ter) c.3265A>T (p.Lys1089Ter) c.638A>T c.2527A>T (p.Lys843Ter) c.3277A>T (p.Lys1093Ter) c.3283A>T (p.Lys1095Ter) | |
| 8 | g.115414604T>C | CA372063052 | TRPS1 | c.3304A>G (p.Lys1102Glu) c.3265A>G (p.Lys1089Glu) c.638A>G c.2527A>G (p.Lys843Glu) c.3277A>G (p.Lys1093Glu) c.3283A>G (p.Lys1095Glu) | |
| 8 | g.115414604T>G | CA372063053 | TRPS1 | c.3304A>C (p.Lys1102Gln) c.3265A>C (p.Lys1089Gln) c.638A>C c.2527A>C (p.Lys843Gln) c.3277A>C (p.Lys1093Gln) c.3283A>C (p.Lys1095Gln) | |
| 8 | g.115414605T>A | CA372063054 | TRPS1 | c.3303A>T (p.Glu1101Asp) c.3264A>T (p.Glu1088Asp) c.637A>T c.2526A>T (p.Glu842Asp) c.3276A>T (p.Glu1092Asp) c.3282A>T (p.Glu1094Asp) | |
| 8 | g.115414605T>C | CA462658311 | TRPS1 | c.3303A>G (p.Glu1101=) c.3264A>G (p.Glu1088=) c.637A>G c.2526A>G (p.Glu842=) c.3276A>G (p.Glu1092=) c.3282A>G (p.Glu1094=) | |
| 8 | g.115414605T>G | CA372063055 | TRPS1 | c.3303A>C (p.Glu1101Asp) c.3264A>C (p.Glu1088Asp) c.637A>C c.2526A>C (p.Glu842Asp) c.3276A>C (p.Glu1092Asp) c.3282A>C (p.Glu1094Asp) | |
| 8 | g.115414606T>A | CA372063056 | TRPS1 | c.3302A>T (p.Glu1101Val) c.3263A>T (p.Glu1088Val) c.636A>T c.2525A>T (p.Glu842Val) c.3275A>T (p.Glu1092Val) c.3281A>T (p.Glu1094Val) | |
| 8 | g.115414606T>C | CA372063057 | TRPS1 | c.3302A>G (p.Glu1101Gly) c.3263A>G (p.Glu1088Gly) c.636A>G c.2525A>G (p.Glu842Gly) c.3275A>G (p.Glu1092Gly) c.3281A>G (p.Glu1094Gly) | |
| 8 | g.115414606T>G | CA372063058 | TRPS1 | c.3302A>C (p.Glu1101Ala) c.3263A>C (p.Glu1088Ala) c.636A>C c.2525A>C (p.Glu842Ala) c.3275A>C (p.Glu1092Ala) c.3281A>C (p.Glu1094Ala) | |
| 8 | g.115414607C>A | CA372063059 | TRPS1 | c.3301G>T (p.Glu1101Ter) c.3262G>T (p.Glu1088Ter) c.635G>T c.2524G>T (p.Glu842Ter) c.3274G>T (p.Glu1092Ter) c.3280G>T (p.Glu1094Ter) | |
| 8 | g.115414607C>G | CA372063060 | TRPS1 | c.3301G>C (p.Glu1101Gln) c.3262G>C (p.Glu1088Gln) c.635G>C c.2524G>C (p.Glu842Gln) c.3274G>C (p.Glu1092Gln) c.3280G>C (p.Glu1094Gln) | |
| 8 | g.115414607C>T | CA372063061 | TRPS1 | c.3301G>A (p.Glu1101Lys) c.3262G>A (p.Glu1088Lys) c.635G>A c.2524G>A (p.Glu842Lys) c.3274G>A (p.Glu1092Lys) c.3280G>A (p.Glu1094Lys) | |
| 8 | g.115414608A>C | CA372063062 | TRPS1 | c.3300T>G (p.Ile1100Met) c.3261T>G (p.Ile1087Met) c.634T>G c.2523T>G (p.Ile841Met) c.3273T>G (p.Ile1091Met) c.3279T>G (p.Ile1093Met) | |
| 8 | g.115414608A>G | CA462658315 | TRPS1 | c.3300T>C (p.Ile1100=) c.3261T>C (p.Ile1087=) c.634T>C c.2523T>C (p.Ile841=) c.3273T>C (p.Ile1091=) c.3279T>C (p.Ile1093=) |