| 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.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=) | |
| 8 | g.115414608A>T | CA462658316 | TRPS1 | c.3300T>A (p.Ile1100=) c.3261T>A (p.Ile1087=) c.634T>A c.2523T>A (p.Ile841=) c.3273T>A (p.Ile1091=) c.3279T>A (p.Ile1093=) | |
| 8 | g.115414609A>C | CA372063065 | TRPS1 | c.3299T>G (p.Ile1100Ser) c.3260T>G (p.Ile1087Ser) c.633T>G c.2522T>G (p.Ile841Ser) c.3272T>G (p.Ile1091Ser) c.3278T>G (p.Ile1093Ser) | |
| 8 | g.115414609A>G | CA372063063 | TRPS1 | c.3299T>C (p.Ile1100Thr) c.3260T>C (p.Ile1087Thr) c.633T>C c.2522T>C (p.Ile841Thr) c.3272T>C (p.Ile1091Thr) c.3278T>C (p.Ile1093Thr) | |
| 8 | g.115414609A>T | CA372063064 | TRPS1 | c.3299T>A (p.Ile1100Asn) c.3260T>A (p.Ile1087Asn) c.633T>A c.2522T>A (p.Ile841Asn) c.3272T>A (p.Ile1091Asn) c.3278T>A (p.Ile1093Asn) | |
| 8 | g.115414610T>A | CA372063066 | TRPS1 | c.3298A>T (p.Ile1100Phe) c.3259A>T (p.Ile1087Phe) c.632A>T c.2521A>T (p.Ile841Phe) c.3271A>T (p.Ile1091Phe) c.3277A>T (p.Ile1093Phe) | |
| 8 | g.115414610T>C | CA372063067 | TRPS1 | c.3298A>G (p.Ile1100Val) c.3259A>G (p.Ile1087Val) c.632A>G c.2521A>G (p.Ile841Val) c.3271A>G (p.Ile1091Val) c.3277A>G (p.Ile1093Val) | dbSNP gnomAD v4 |
| 8 | g.115414610T>G | CA372063068 | TRPS1 | c.3298A>C (p.Ile1100Leu) c.3259A>C (p.Ile1087Leu) c.632A>C c.2521A>C (p.Ile841Leu) c.3271A>C (p.Ile1091Leu) c.3277A>C (p.Ile1093Leu) | |
| 8 | g.115414610T= | CA1812854041 | TRPS1 | c.3298A= (p.Ile1100=) c.3259A= (p.Ile1087=) c.632A= c.2521A= (p.Ile841=) c.3271A= (p.Ile1091=) c.3277A= (p.Ile1093=) | |
| 8 | g.115414611A>C | CA462658319 | TRPS1 | c.3297T>G (p.Pro1099=) c.3258T>G (p.Pro1086=) c.631T>G c.2520T>G (p.Pro840=) c.3270T>G (p.Pro1090=) c.3276T>G (p.Pro1092=) | |
| 8 | g.115414611A>G | CA462658321 | TRPS1 | c.3297T>C (p.Pro1099=) c.3258T>C (p.Pro1086=) c.631T>C c.2520T>C (p.Pro840=) c.3270T>C (p.Pro1090=) c.3276T>C (p.Pro1092=) | gnomAD v4 |
| 8 | g.115414611A>T | CA462658322 | TRPS1 | c.3297T>A (p.Pro1099=) c.3258T>A (p.Pro1086=) c.631T>A c.2520T>A (p.Pro840=) c.3270T>A (p.Pro1090=) c.3276T>A (p.Pro1092=) | |
| 8 | g.115414612G>A | CA372063069 | TRPS1 | c.3296C>T (p.Pro1099Leu) c.3257C>T (p.Pro1086Leu) c.630C>T c.2519C>T (p.Pro840Leu) c.3269C>T (p.Pro1090Leu) c.3275C>T (p.Pro1092Leu) | |
| 8 | g.115414612G>C | CA372063070 | TRPS1 | c.3296C>G (p.Pro1099Arg) c.3257C>G (p.Pro1086Arg) c.630C>G c.2519C>G (p.Pro840Arg) c.3269C>G (p.Pro1090Arg) c.3275C>G (p.Pro1092Arg) | |
| 8 | g.115414612G>T | CA372063071 | TRPS1 | c.3296C>A (p.Pro1099His) c.3257C>A (p.Pro1086His) c.630C>A c.2519C>A (p.Pro840His) c.3269C>A (p.Pro1090His) c.3275C>A (p.Pro1092His) | |
| 8 | g.115414613G>A | CA372063072 | TRPS1 | c.3295C>T (p.Pro1099Ser) c.3256C>T (p.Pro1086Ser) c.629C>T c.2518C>T (p.Pro840Ser) c.3268C>T (p.Pro1090Ser) c.3274C>T (p.Pro1092Ser) | |
| 8 | g.115414613G>C | CA372063073 | TRPS1 | c.3295C>G (p.Pro1099Ala) c.3256C>G (p.Pro1086Ala) c.629C>G c.2518C>G (p.Pro840Ala) c.3268C>G (p.Pro1090Ala) c.3274C>G (p.Pro1092Ala) | |
| 8 | g.115414613G>T | CA372063074 | TRPS1 | c.3295C>A (p.Pro1099Thr) c.3256C>A (p.Pro1086Thr) c.629C>A c.2518C>A (p.Pro840Thr) c.3268C>A (p.Pro1090Thr) c.3274C>A (p.Pro1092Thr) | |
| 8 | g.115414614G>A | CA4851506 | TRPS1 | c.3294C>T (p.Ser1098=) c.3255C>T (p.Ser1085=) c.628C>T c.2517C>T (p.Ser839=) c.3267C>T (p.Ser1089=) c.3273C>T (p.Ser1091=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414614G>C | CA372063075 | TRPS1 | c.3294C>G (p.Ser1098Arg) c.3255C>G (p.Ser1085Arg) c.628C>G c.2517C>G (p.Ser839Arg) c.3267C>G (p.Ser1089Arg) c.3273C>G (p.Ser1091Arg) | gnomAD v4 |
| 8 | g.115414614G= | CA1812854045 | TRPS1 | c.3294C= (p.Ser1098=) c.3255C= (p.Ser1085=) c.628C= c.2517C= (p.Ser839=) c.3267C= (p.Ser1089=) c.3273C= (p.Ser1091=) | |
| 8 | g.115414614G>T | CA372063076 | TRPS1 | c.3294C>A (p.Ser1098Arg) c.3255C>A (p.Ser1085Arg) c.628C>A c.2517C>A (p.Ser839Arg) c.3267C>A (p.Ser1089Arg) c.3273C>A (p.Ser1091Arg) | |
| 8 | g.115414615C>A | CA372063079 | TRPS1 | c.3293G>T (p.Ser1098Ile) c.3254G>T (p.Ser1085Ile) c.627G>T c.2516G>T (p.Ser839Ile) c.3266G>T (p.Ser1089Ile) c.3272G>T (p.Ser1091Ile) | |
| 8 | g.115414615C>G | CA372063078 | TRPS1 | c.3293G>C (p.Ser1098Thr) c.3254G>C (p.Ser1085Thr) c.627G>C c.2516G>C (p.Ser839Thr) c.3266G>C (p.Ser1089Thr) c.3272G>C (p.Ser1091Thr) | |
| 8 | g.115414615C>T | CA372063077 | TRPS1 | c.3293G>A (p.Ser1098Asn) c.3254G>A (p.Ser1085Asn) c.627G>A c.2516G>A (p.Ser839Asn) c.3266G>A (p.Ser1089Asn) c.3272G>A (p.Ser1091Asn) | |
| 8 | g.115414616T>A | CA372063081 | TRPS1 | c.3292A>T (p.Ser1098Cys) c.3253A>T (p.Ser1085Cys) c.626A>T c.2515A>T (p.Ser839Cys) c.3265A>T (p.Ser1089Cys) c.3271A>T (p.Ser1091Cys) | |
| 8 | g.115414616T>C | CA372063080 | TRPS1 | c.3292A>G (p.Ser1098Gly) c.3253A>G (p.Ser1085Gly) c.626A>G c.2515A>G (p.Ser839Gly) c.3265A>G (p.Ser1089Gly) c.3271A>G (p.Ser1091Gly) | gnomAD v4 |
| 8 | g.115414616T>G | CA372063082 | TRPS1 | c.3292A>C (p.Ser1098Arg) c.3253A>C (p.Ser1085Arg) c.626A>C c.2515A>C (p.Ser839Arg) c.3265A>C (p.Ser1089Arg) c.3271A>C (p.Ser1091Arg) | |
| 8 | g.115414617G>A | CA462658328 | TRPS1 | c.3291C>T (p.Gly1097=) c.3252C>T (p.Gly1084=) c.625C>T c.2514C>T (p.Gly838=) c.3264C>T (p.Gly1088=) c.3270C>T (p.Gly1090=) | gnomAD v4 COSMIC COSMIC |
| 8 | g.115414617G>C | CA462658326 | TRPS1 | c.3291C>G (p.Gly1097=) c.3252C>G (p.Gly1084=) c.625C>G c.2514C>G (p.Gly838=) c.3264C>G (p.Gly1088=) c.3270C>G (p.Gly1090=) | gnomAD v4 |
| 8 | g.115414617G>T | CA462658327 | TRPS1 | c.3291C>A (p.Gly1097=) c.3252C>A (p.Gly1084=) c.625C>A c.2514C>A (p.Gly838=) c.3264C>A (p.Gly1088=) c.3270C>A (p.Gly1090=) | gnomAD v4 |
| 8 | g.115414618C>A | CA184469642 | TRPS1 | c.3290G>T (p.Gly1097Val) c.3251G>T (p.Gly1084Val) c.624G>T c.2513G>T (p.Gly838Val) c.3263G>T (p.Gly1088Val) c.3269G>T (p.Gly1090Val) | dbSNP |
| 8 | g.115414618C= | CA1812854050 | TRPS1 | c.3290G= (p.Gly1097=) c.3251G= (p.Gly1084=) c.624G= c.2513G= (p.Gly838=) c.3263G= (p.Gly1088=) c.3269G= (p.Gly1090=) | |
| 8 | g.115414618C>G | CA372063084 | TRPS1 | c.3290G>C (p.Gly1097Ala) c.3251G>C (p.Gly1084Ala) c.624G>C c.2513G>C (p.Gly838Ala) c.3263G>C (p.Gly1088Ala) c.3269G>C (p.Gly1090Ala) | |
| 8 | g.115414618C>T | CA372063083 | TRPS1 | c.3290G>A (p.Gly1097Asp) c.3251G>A (p.Gly1084Asp) c.624G>A c.2513G>A (p.Gly838Asp) c.3263G>A (p.Gly1088Asp) c.3269G>A (p.Gly1090Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414619C>A | CA372063085 | TRPS1 | c.3289G>T (p.Gly1097Cys) c.3250G>T (p.Gly1084Cys) c.623G>T c.2512G>T (p.Gly838Cys) c.3262G>T (p.Gly1088Cys) c.3268G>T (p.Gly1090Cys) | |
| 8 | g.115414619C>G | CA372063086 | TRPS1 | c.3289G>C (p.Gly1097Arg) c.3250G>C (p.Gly1084Arg) c.623G>C c.2512G>C (p.Gly838Arg) c.3262G>C (p.Gly1088Arg) c.3268G>C (p.Gly1090Arg) | |
| 8 | g.115414619C>T | CA372063087 | TRPS1 | c.3289G>A (p.Gly1097Ser) c.3250G>A (p.Gly1084Ser) c.623G>A c.2512G>A (p.Gly838Ser) c.3262G>A (p.Gly1088Ser) c.3268G>A (p.Gly1090Ser) | |
| 8 | g.115414620T>A | CA462658330 | TRPS1 | c.3288A>T (p.Pro1096=) c.3249A>T (p.Pro1083=) c.622A>T c.2511A>T (p.Pro837=) c.3261A>T (p.Pro1087=) c.3267A>T (p.Pro1089=) | gnomAD v4 |
| 8 | g.115414620T>C | CA462658332 | TRPS1 | c.3288A>G (p.Pro1096=) c.3249A>G (p.Pro1083=) c.622A>G c.2511A>G (p.Pro837=) c.3261A>G (p.Pro1087=) c.3267A>G (p.Pro1089=) | |
| 8 | g.115414620T>G | CA462658334 | TRPS1 | c.3288A>C (p.Pro1096=) c.3249A>C (p.Pro1083=) c.622A>C c.2511A>C (p.Pro837=) c.3261A>C (p.Pro1087=) c.3267A>C (p.Pro1089=) | |
| 8 | g.115414625_115414627del | CA2688317595 | TRPS1 | c.3286_3288del (p.Pro1096del) c.3247_3249del (p.Pro1083del) c.620_622del c.2509_2511del (p.Pro837del) c.3259_3261del (p.Pro1087del) c.3265_3267del (p.Pro1089del) | gnomAD v4 |
| 8 | g.115414621G>A | CA372063088 | TRPS1 | c.3287C>T (p.Pro1096Leu) c.3248C>T (p.Pro1083Leu) c.621C>T c.2510C>T (p.Pro837Leu) c.3260C>T (p.Pro1087Leu) c.3266C>T (p.Pro1089Leu) | |
| 8 | g.115414621G>C | CA372063089 | TRPS1 | c.3287C>G (p.Pro1096Arg) c.3248C>G (p.Pro1083Arg) c.621C>G c.2510C>G (p.Pro837Arg) c.3260C>G (p.Pro1087Arg) c.3266C>G (p.Pro1089Arg) | |
| 8 | g.115414621G>T | CA372063090 | TRPS1 | c.3287C>A (p.Pro1096Gln) c.3248C>A (p.Pro1083Gln) c.621C>A c.2510C>A (p.Pro837Gln) c.3260C>A (p.Pro1087Gln) c.3266C>A (p.Pro1089Gln) | |
| 8 | g.115414622G>A | CA372063091 | TRPS1 | c.3286C>T (p.Pro1096Ser) c.3247C>T (p.Pro1083Ser) c.620C>T c.2509C>T (p.Pro837Ser) c.3259C>T (p.Pro1087Ser) c.3265C>T (p.Pro1089Ser) | |
| 8 | g.115414622G>C | CA372063092 | TRPS1 | c.3286C>G (p.Pro1096Ala) c.3247C>G (p.Pro1083Ala) c.620C>G c.2509C>G (p.Pro837Ala) c.3259C>G (p.Pro1087Ala) c.3265C>G (p.Pro1089Ala) | |
| 8 | g.115414622G>T | CA372063093 | TRPS1 | c.3286C>A (p.Pro1096Thr) c.3247C>A (p.Pro1083Thr) c.620C>A c.2509C>A (p.Pro837Thr) c.3259C>A (p.Pro1087Thr) c.3265C>A (p.Pro1089Thr) | |
| 8 | g.115414623T>A | CA462658339 | TRPS1 | c.3285A>T (p.Pro1095=) c.3246A>T (p.Pro1082=) c.619A>T c.2508A>T (p.Pro836=) c.3258A>T (p.Pro1086=) c.3264A>T (p.Pro1088=) | |
| 8 | g.115414623T>C | CA462658337 | TRPS1 | c.3285A>G (p.Pro1095=) c.3246A>G (p.Pro1082=) c.619A>G c.2508A>G (p.Pro836=) c.3258A>G (p.Pro1086=) c.3264A>G (p.Pro1088=) | |
| 8 | g.115414623T>G | CA462658340 | TRPS1 | c.3285A>C (p.Pro1095=) c.3246A>C (p.Pro1082=) c.619A>C c.2508A>C (p.Pro836=) c.3258A>C (p.Pro1086=) c.3264A>C (p.Pro1088=) | |
| 8 | g.115414624G>A | CA372063094 | TRPS1 | c.3284C>T (p.Pro1095Leu) c.3245C>T (p.Pro1082Leu) c.618C>T c.2507C>T (p.Pro836Leu) c.3257C>T (p.Pro1086Leu) c.3263C>T (p.Pro1088Leu) | |
| 8 | g.115414624G>C | CA372063095 | TRPS1 | c.3284C>G (p.Pro1095Arg) c.3245C>G (p.Pro1082Arg) c.618C>G c.2507C>G (p.Pro836Arg) c.3257C>G (p.Pro1086Arg) c.3263C>G (p.Pro1088Arg) | |
| 8 | g.115414624G>T | CA372063096 | TRPS1 | c.3284C>A (p.Pro1095Gln) c.3245C>A (p.Pro1082Gln) c.618C>A c.2507C>A (p.Pro836Gln) c.3257C>A (p.Pro1086Gln) c.3263C>A (p.Pro1088Gln) | |
| 8 | g.115414625G>A | CA372063099 | TRPS1 | c.3283C>T (p.Pro1095Ser) c.3244C>T (p.Pro1082Ser) c.617C>T c.2506C>T (p.Pro836Ser) c.3256C>T (p.Pro1086Ser) c.3262C>T (p.Pro1088Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414625G>C | CA372063097 | TRPS1 | c.3283C>G (p.Pro1095Ala) c.3244C>G (p.Pro1082Ala) c.617C>G c.2506C>G (p.Pro836Ala) c.3256C>G (p.Pro1086Ala) c.3262C>G (p.Pro1088Ala) | |
| 8 | g.115414625G= | CA1812854053 | TRPS1 | c.3283C= (p.Pro1095=) c.3244C= (p.Pro1082=) c.617C= c.2506C= (p.Pro836=) c.3256C= (p.Pro1086=) c.3262C= (p.Pro1088=) | |
| 8 | g.115414625G>T | CA372063098 | TRPS1 | c.3283C>A (p.Pro1095Thr) c.3244C>A (p.Pro1082Thr) c.617C>A c.2506C>A (p.Pro836Thr) c.3256C>A (p.Pro1086Thr) c.3262C>A (p.Pro1088Thr) | |
| 8 | g.115414626T>A | CA462658343 | TRPS1 | c.3282A>T (p.Ser1094=) c.3243A>T (p.Ser1081=) c.616A>T c.2505A>T (p.Ser835=) c.3255A>T (p.Ser1085=) c.3261A>T (p.Ser1087=) | |
| 8 | g.115414626T>C | CA462658345 | TRPS1 | c.3282A>G (p.Ser1094=) c.3243A>G (p.Ser1081=) c.616A>G c.2505A>G (p.Ser835=) c.3255A>G (p.Ser1085=) c.3261A>G (p.Ser1087=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414626T>G | CA462658346 | TRPS1 | c.3282A>C (p.Ser1094=) c.3243A>C (p.Ser1081=) c.616A>C c.2505A>C (p.Ser835=) c.3255A>C (p.Ser1085=) c.3261A>C (p.Ser1087=) | |
| 8 | g.115414626T= | CA1812854057 | TRPS1 | c.3282A= (p.Ser1094=) c.3243A= (p.Ser1081=) c.616A= c.2505A= (p.Ser835=) c.3255A= (p.Ser1085=) c.3261A= (p.Ser1087=) | |
| 8 | g.115414627G>A | CA372063100 | TRPS1 | c.3281C>T (p.Ser1094Leu) c.3242C>T (p.Ser1081Leu) c.615C>T c.2504C>T (p.Ser835Leu) c.3254C>T (p.Ser1085Leu) c.3260C>T (p.Ser1087Leu) | gnomAD v4 |
| 8 | g.115414627G>C | CA372063101 | TRPS1 | c.3281C>G (p.Ser1094Ter) c.3242C>G (p.Ser1081Ter) c.615C>G c.2504C>G (p.Ser835Ter) c.3254C>G (p.Ser1085Ter) c.3260C>G (p.Ser1087Ter) | |
| 8 | g.115414627G>T | CA372063102 | TRPS1 | c.3281C>A (p.Ser1094Ter) c.3242C>A (p.Ser1081Ter) c.615C>A c.2504C>A (p.Ser835Ter) c.3254C>A (p.Ser1085Ter) c.3260C>A (p.Ser1087Ter) | |
| 8 | g.115414628A>C | CA372063103 | TRPS1 | c.3280T>G (p.Ser1094Ala) c.3241T>G (p.Ser1081Ala) c.614T>G c.2503T>G (p.Ser835Ala) c.3253T>G (p.Ser1085Ala) c.3259T>G (p.Ser1087Ala) | |
| 8 | g.115414628A>G | CA372063104 | TRPS1 | c.3280T>C (p.Ser1094Pro) c.3241T>C (p.Ser1081Pro) c.614T>C c.2503T>C (p.Ser835Pro) c.3253T>C (p.Ser1085Pro) c.3259T>C (p.Ser1087Pro) | |
| 8 | g.115414628A>T | CA372063105 | TRPS1 | c.3280T>A (p.Ser1094Thr) c.3241T>A (p.Ser1081Thr) c.614T>A c.2503T>A (p.Ser835Thr) c.3253T>A (p.Ser1085Thr) c.3259T>A (p.Ser1087Thr) | |
| 8 | g.115414629A>C | CA372063106 | TRPS1 | c.3279T>G (p.Tyr1093Ter) c.3240T>G (p.Tyr1080Ter) c.613T>G c.2502T>G (p.Tyr834Ter) c.3252T>G (p.Tyr1084Ter) c.3258T>G (p.Tyr1086Ter) | |
| 8 | g.115414629A>G | CA462658349 | TRPS1 | c.3279T>C (p.Tyr1093=) c.3240T>C (p.Tyr1080=) c.613T>C c.2502T>C (p.Tyr834=) c.3252T>C (p.Tyr1084=) c.3258T>C (p.Tyr1086=) | |
| 8 | g.115414629A>T | CA372063107 | TRPS1 | c.3279T>A (p.Tyr1093Ter) c.3240T>A (p.Tyr1080Ter) c.613T>A c.2502T>A (p.Tyr834Ter) c.3252T>A (p.Tyr1084Ter) c.3258T>A (p.Tyr1086Ter) | |
| 8 | g.115414630T>A | CA372063108 | TRPS1 | c.3278A>T (p.Tyr1093Phe) c.3239A>T (p.Tyr1080Phe) c.612A>T c.2501A>T (p.Tyr834Phe) c.3251A>T (p.Tyr1084Phe) c.3257A>T (p.Tyr1086Phe) | |
| 8 | g.115414630T>C | CA372063109 | TRPS1 | c.3278A>G (p.Tyr1093Cys) c.3239A>G (p.Tyr1080Cys) c.612A>G c.2501A>G (p.Tyr834Cys) c.3251A>G (p.Tyr1084Cys) c.3257A>G (p.Tyr1086Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414630T>G | CA372063110 | TRPS1 | c.3278A>C (p.Tyr1093Ser) c.3239A>C (p.Tyr1080Ser) c.612A>C c.2501A>C (p.Tyr834Ser) c.3251A>C (p.Tyr1084Ser) c.3257A>C (p.Tyr1086Ser) | gnomAD v4 |
| 8 | g.115414630T= | CA1812854061 | TRPS1 | c.3278A= (p.Tyr1093=) c.3239A= (p.Tyr1080=) c.612A= c.2501A= (p.Tyr834=) c.3251A= (p.Tyr1084=) c.3257A= (p.Tyr1086=) | |
| 8 | g.115414631A>C | CA372063113 | TRPS1 | c.3277T>G (p.Tyr1093Asp) c.3238T>G (p.Tyr1080Asp) c.611T>G c.2500T>G (p.Tyr834Asp) c.3250T>G (p.Tyr1084Asp) c.3256T>G (p.Tyr1086Asp) | |
| 8 | g.115414631A>G | CA372063112 | TRPS1 | c.3277T>C (p.Tyr1093His) c.3238T>C (p.Tyr1080His) c.611T>C c.2500T>C (p.Tyr834His) c.3250T>C (p.Tyr1084His) c.3256T>C (p.Tyr1086His) | gnomAD v4 |
| 8 | g.115414631A>T | CA372063111 | TRPS1 | c.3277T>A (p.Tyr1093Asn) c.3238T>A (p.Tyr1080Asn) c.611T>A c.2500T>A (p.Tyr834Asn) c.3250T>A (p.Tyr1084Asn) c.3256T>A (p.Tyr1086Asn) | |
| 8 | g.115414632A>C | CA372063114 | TRPS1 | c.3276T>G (p.Asn1092Lys) c.3237T>G (p.Asn1079Lys) c.610T>G c.2499T>G (p.Asn833Lys) c.3249T>G (p.Asn1083Lys) c.3255T>G (p.Asn1085Lys) | |
| 8 | g.115414632A>G | CA462658353 | TRPS1 | c.3276T>C (p.Asn1092=) c.3237T>C (p.Asn1079=) c.610T>C c.2499T>C (p.Asn833=) c.3249T>C (p.Asn1083=) c.3255T>C (p.Asn1085=) | |
| 8 | g.115414632A>T | CA372063115 | TRPS1 | c.3276T>A (p.Asn1092Lys) c.3237T>A (p.Asn1079Lys) c.610T>A c.2499T>A (p.Asn833Lys) c.3249T>A (p.Asn1083Lys) c.3255T>A (p.Asn1085Lys) | |
| 8 | g.115414633T>A | CA372063116 | TRPS1 | c.3275A>T (p.Asn1092Ile) c.3236A>T (p.Asn1079Ile) c.609A>T c.2498A>T (p.Asn833Ile) c.3248A>T (p.Asn1083Ile) c.3254A>T (p.Asn1085Ile) | |
| 8 | g.115414633T>C | CA372063117 | TRPS1 | c.3275A>G (p.Asn1092Ser) c.3236A>G (p.Asn1079Ser) c.609A>G c.2498A>G (p.Asn833Ser) c.3248A>G (p.Asn1083Ser) c.3254A>G (p.Asn1085Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414633T>G | CA372063118 | TRPS1 | c.3275A>C (p.Asn1092Thr) c.3236A>C (p.Asn1079Thr) c.609A>C c.2498A>C (p.Asn833Thr) c.3248A>C (p.Asn1083Thr) c.3254A>C (p.Asn1085Thr) | |
| 8 | g.115414633T= | CA1812854064 | TRPS1 | c.3275A= (p.Asn1092=) c.3236A= (p.Asn1079=) c.609A= c.2498A= (p.Asn833=) c.3248A= (p.Asn1083=) c.3254A= (p.Asn1085=) | |
| 8 | g.115414636_115414643del | CA2573142806 | TRPS1 | c.3268_3275del (p.His1090LeufsTer9) c.3229_3236del (p.His1077LeufsTer9) c.602_609del c.2491_2498del (p.His831LeufsTer9) c.3241_3248del (p.His1081LeufsTer9) c.3247_3254del (p.His1083LeufsTer9) | ClinVar dbSNP |
| 8 | g.115414634T>A | CA372063119 | TRPS1 | c.3274A>T (p.Asn1092Tyr) c.3235A>T (p.Asn1079Tyr) c.608A>T c.2497A>T (p.Asn833Tyr) c.3247A>T (p.Asn1083Tyr) c.3253A>T (p.Asn1085Tyr) | |
| 8 | g.115414634T>C | CA372063120 | TRPS1 | c.3274A>G (p.Asn1092Asp) c.3235A>G (p.Asn1079Asp) c.608A>G c.2497A>G (p.Asn833Asp) c.3247A>G (p.Asn1083Asp) c.3253A>G (p.Asn1085Asp) | gnomAD v4 |
| 8 | g.115414634T>G | CA372063121 | TRPS1 | c.3274A>C (p.Asn1092His) c.3235A>C (p.Asn1079His) c.608A>C c.2497A>C (p.Asn833His) c.3247A>C (p.Asn1083His) c.3253A>C (p.Asn1085His) | |
| 8 | g.115414635T>A | CA462658355 | TRPS1 | c.3273A>T (p.Pro1091=) c.3234A>T (p.Pro1078=) c.607A>T c.2496A>T (p.Pro832=) c.3246A>T (p.Pro1082=) c.3252A>T (p.Pro1084=) | |
| 8 | g.115414635T>C | CA462658356 | TRPS1 | c.3273A>G (p.Pro1091=) c.3234A>G (p.Pro1078=) c.607A>G c.2496A>G (p.Pro832=) c.3246A>G (p.Pro1082=) c.3252A>G (p.Pro1084=) | |
| 8 | g.115414635T>G | CA462658357 | TRPS1 | c.3273A>C (p.Pro1091=) c.3234A>C (p.Pro1078=) c.607A>C c.2496A>C (p.Pro832=) c.3246A>C (p.Pro1082=) c.3252A>C (p.Pro1084=) | |
| 8 | g.115414636G>A | CA4851507 | TRPS1 | c.3272C>T (p.Pro1091Leu) c.3233C>T (p.Pro1078Leu) c.606C>T c.2495C>T (p.Pro832Leu) c.3245C>T (p.Pro1082Leu) c.3251C>T (p.Pro1084Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414636G>C | CA372063122 | TRPS1 | c.3272C>G (p.Pro1091Arg) c.3233C>G (p.Pro1078Arg) c.606C>G c.2495C>G (p.Pro832Arg) c.3245C>G (p.Pro1082Arg) c.3251C>G (p.Pro1084Arg) | |
| 8 | g.115414636G= | CA1812854069 | TRPS1 | c.3272C= (p.Pro1091=) c.3233C= (p.Pro1078=) c.606C= c.2495C= (p.Pro832=) c.3245C= (p.Pro1082=) c.3251C= (p.Pro1084=) | |
| 8 | g.115414636G>T | CA372063123 | TRPS1 | c.3272C>A (p.Pro1091Gln) c.3233C>A (p.Pro1078Gln) c.606C>A c.2495C>A (p.Pro832Gln) c.3245C>A (p.Pro1082Gln) c.3251C>A (p.Pro1084Gln) | |
| 8 | g.115414637G>A | CA372063124 | TRPS1 | c.3271C>T (p.Pro1091Ser) c.3232C>T (p.Pro1078Ser) c.605C>T c.2494C>T (p.Pro832Ser) c.3244C>T (p.Pro1082Ser) c.3250C>T (p.Pro1084Ser) | |
| 8 | g.115414637G>C | CA372063125 | TRPS1 | c.3271C>G (p.Pro1091Ala) c.3232C>G (p.Pro1078Ala) c.605C>G c.2494C>G (p.Pro832Ala) c.3244C>G (p.Pro1082Ala) c.3250C>G (p.Pro1084Ala) | |
| 8 | g.115414637G>T | CA372063126 | TRPS1 | c.3271C>A (p.Pro1091Thr) c.3232C>A (p.Pro1078Thr) c.605C>A c.2494C>A (p.Pro832Thr) c.3244C>A (p.Pro1082Thr) c.3250C>A (p.Pro1084Thr) | gnomAD v4 |
| 8 | g.115414638G>A | CA462658359 | TRPS1 | c.3270C>T (p.His1090=) c.3231C>T (p.His1077=) c.604C>T c.2493C>T (p.His831=) c.3243C>T (p.His1081=) c.3249C>T (p.His1083=) | |
| 8 | g.115414638G>C | CA372063127 | TRPS1 | c.3270C>G (p.His1090Gln) c.3231C>G (p.His1077Gln) c.604C>G c.2493C>G (p.His831Gln) c.3243C>G (p.His1081Gln) c.3249C>G (p.His1083Gln) | |
| 8 | g.115414638G>T | CA372063128 | TRPS1 | c.3270C>A (p.His1090Gln) c.3231C>A (p.His1077Gln) c.604C>A c.2493C>A (p.His831Gln) c.3243C>A (p.His1081Gln) c.3249C>A (p.His1083Gln) | gnomAD v4 |
| 8 | g.115414639T>A | CA372063129 | TRPS1 | c.3269A>T (p.His1090Leu) c.3230A>T (p.His1077Leu) c.603A>T c.2492A>T (p.His831Leu) c.3242A>T (p.His1081Leu) c.3248A>T (p.His1083Leu) | |
| 8 | g.115414639T>C | CA372063130 | TRPS1 | c.3269A>G (p.His1090Arg) c.3230A>G (p.His1077Arg) c.603A>G c.2492A>G (p.His831Arg) c.3242A>G (p.His1081Arg) c.3248A>G (p.His1083Arg) | |
| 8 | g.115414639T>G | CA372063131 | TRPS1 | c.3269A>C (p.His1090Pro) c.3230A>C (p.His1077Pro) c.603A>C c.2492A>C (p.His831Pro) c.3242A>C (p.His1081Pro) c.3248A>C (p.His1083Pro) | |
| 8 | g.115414640G>A | CA372063132 | TRPS1 | c.3268C>T (p.His1090Tyr) c.3229C>T (p.His1077Tyr) c.602C>T c.2491C>T (p.His831Tyr) c.3241C>T (p.His1081Tyr) c.3247C>T (p.His1083Tyr) | ClinVar gnomAD v4 |
| 8 | g.115414640G>C | CA372063133 | TRPS1 | c.3268C>G (p.His1090Asp) c.3229C>G (p.His1077Asp) c.602C>G c.2491C>G (p.His831Asp) c.3241C>G (p.His1081Asp) c.3247C>G (p.His1083Asp) | |
| 8 | g.115414640G>T | CA372063134 | TRPS1 | c.3268C>A (p.His1090Asn) c.3229C>A (p.His1077Asn) c.602C>A c.2491C>A (p.His831Asn) c.3241C>A (p.His1081Asn) c.3247C>A (p.His1083Asn) | |
| 8 | g.115414641T>A | CA372063135 | TRPS1 | c.3267A>T (p.Lys1089Asn) c.3228A>T (p.Lys1076Asn) c.601A>T c.2490A>T (p.Lys830Asn) c.3240A>T (p.Lys1080Asn) c.3246A>T (p.Lys1082Asn) | |
| 8 | g.115414641T>C | CA462658363 | TRPS1 | c.3267A>G (p.Lys1089=) c.3228A>G (p.Lys1076=) c.601A>G c.2490A>G (p.Lys830=) c.3240A>G (p.Lys1080=) c.3246A>G (p.Lys1082=) | |
| 8 | g.115414641T>G | CA372063136 | TRPS1 | c.3267A>C (p.Lys1089Asn) c.3228A>C (p.Lys1076Asn) c.601A>C c.2490A>C (p.Lys830Asn) c.3240A>C (p.Lys1080Asn) c.3246A>C (p.Lys1082Asn) | |
| 8 | g.115414642T>A | CA372063137 | TRPS1 | c.3266A>T (p.Lys1089Ile) c.3227A>T (p.Lys1076Ile) c.600A>T c.2489A>T (p.Lys830Ile) c.3239A>T (p.Lys1080Ile) c.3245A>T (p.Lys1082Ile) | |
| 8 | g.115414642T>C | CA372063138 | TRPS1 | c.3266A>G (p.Lys1089Arg) c.3227A>G (p.Lys1076Arg) c.600A>G c.2489A>G (p.Lys830Arg) c.3239A>G (p.Lys1080Arg) c.3245A>G (p.Lys1082Arg) | |
| 8 | g.115414642T>G | CA372063139 | TRPS1 | c.3266A>C (p.Lys1089Thr) c.3227A>C (p.Lys1076Thr) c.600A>C c.2489A>C (p.Lys830Thr) c.3239A>C (p.Lys1080Thr) c.3245A>C (p.Lys1082Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414642T= | CA1812854073 | TRPS1 | c.3266A= (p.Lys1089=) c.3227A= (p.Lys1076=) c.600A= c.2489A= (p.Lys830=) c.3239A= (p.Lys1080=) c.3245A= (p.Lys1082=) | |
| 8 | g.115414643T>A | CA372063142 | TRPS1 | c.3265A>T (p.Lys1089Ter) c.3226A>T (p.Lys1076Ter) c.599A>T c.2488A>T (p.Lys830Ter) c.3238A>T (p.Lys1080Ter) c.3244A>T (p.Lys1082Ter) | |
| 8 | g.115414643T>C | CA372063141 | TRPS1 | c.3265A>G (p.Lys1089Glu) c.3226A>G (p.Lys1076Glu) c.599A>G c.2488A>G (p.Lys830Glu) c.3238A>G (p.Lys1080Glu) c.3244A>G (p.Lys1082Glu) | |
| 8 | g.115414643T>G | CA372063140 | TRPS1 | c.3265A>C (p.Lys1089Gln) c.3226A>C (p.Lys1076Gln) c.599A>C c.2488A>C (p.Lys830Gln) c.3238A>C (p.Lys1080Gln) c.3244A>C (p.Lys1082Gln) | |
| 8 | g.115414644C>A | CA462658365 | TRPS1 | c.3264G>T (p.Ala1088=) c.3225G>T (p.Ala1075=) c.598G>T c.2487G>T (p.Ala829=) c.3237G>T (p.Ala1079=) c.3243G>T (p.Ala1081=) | |
| 8 | g.115414644C= | CA1812854076 | TRPS1 | c.3264G= (p.Ala1088=) c.3225G= (p.Ala1075=) c.598G= c.2487G= (p.Ala829=) c.3237G= (p.Ala1079=) c.3243G= (p.Ala1081=) | |
| 8 | g.115414644C>G | CA462658366 | TRPS1 | c.3264G>C (p.Ala1088=) c.3225G>C (p.Ala1075=) c.598G>C c.2487G>C (p.Ala829=) c.3237G>C (p.Ala1079=) c.3243G>C (p.Ala1081=) | COSMIC COSMIC |
| 8 | g.115414644C>T | CA4851508 | TRPS1 | c.3264G>A (p.Ala1088=) c.3225G>A (p.Ala1075=) c.598G>A c.2487G>A (p.Ala829=) c.3237G>A (p.Ala1079=) c.3243G>A (p.Ala1081=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414645G>A | CA184469683 | TRPS1 | c.3263C>T (p.Ala1088Val) c.3224C>T (p.Ala1075Val) c.597C>T c.2486C>T (p.Ala829Val) c.3236C>T (p.Ala1079Val) c.3242C>T (p.Ala1081Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414645G>C | CA372063143 | TRPS1 | c.3263C>G (p.Ala1088Gly) c.3224C>G (p.Ala1075Gly) c.597C>G c.2486C>G (p.Ala829Gly) c.3236C>G (p.Ala1079Gly) c.3242C>G (p.Ala1081Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.115414645G= | CA1812854082 | TRPS1 | c.3263C= (p.Ala1088=) c.3224C= (p.Ala1075=) c.597C= c.2486C= (p.Ala829=) c.3236C= (p.Ala1079=) c.3242C= (p.Ala1081=) | |
| 8 | g.115414645G>T | CA372063144 | TRPS1 | c.3263C>A (p.Ala1088Glu) c.3224C>A (p.Ala1075Glu) c.597C>A c.2486C>A (p.Ala829Glu) c.3236C>A (p.Ala1079Glu) c.3242C>A (p.Ala1081Glu) | |
| 8 | g.115414646C>A | CA372063145 | TRPS1 | c.3262G>T (p.Ala1088Ser) c.3223G>T (p.Ala1075Ser) c.596G>T c.2485G>T (p.Ala829Ser) c.3235G>T (p.Ala1079Ser) c.3241G>T (p.Ala1081Ser) | |
| 8 | g.115414646C>G | CA372063146 | TRPS1 | c.3262G>C (p.Ala1088Pro) c.3223G>C (p.Ala1075Pro) c.596G>C c.2485G>C (p.Ala829Pro) c.3235G>C (p.Ala1079Pro) c.3241G>C (p.Ala1081Pro) | |
| 8 | g.115414646C>T | CA372063147 | TRPS1 | c.3262G>A (p.Ala1088Thr) c.3223G>A (p.Ala1075Thr) c.596G>A c.2485G>A (p.Ala829Thr) c.3235G>A (p.Ala1079Thr) c.3241G>A (p.Ala1081Thr) | |
| 8 | g.115414647A>C | CA462658371 | TRPS1 | c.3261T>G (p.Pro1087=) c.3222T>G (p.Pro1074=) c.595T>G c.2484T>G (p.Pro828=) c.3234T>G (p.Pro1078=) c.3240T>G (p.Pro1080=) | |
| 8 | g.115414647A>G | CA462658369 | TRPS1 | c.3261T>C (p.Pro1087=) c.3222T>C (p.Pro1074=) c.595T>C c.2484T>C (p.Pro828=) c.3234T>C (p.Pro1078=) c.3240T>C (p.Pro1080=) | gnomAD v4 |
| 8 | g.115414647A>T | CA462658368 | TRPS1 | c.3261T>A (p.Pro1087=) c.3222T>A (p.Pro1074=) c.595T>A c.2484T>A (p.Pro828=) c.3234T>A (p.Pro1078=) c.3240T>A (p.Pro1080=) | |
| 8 | g.115414648G>A | CA372063148 | TRPS1 | c.3260C>T (p.Pro1087Leu) c.3221C>T (p.Pro1074Leu) c.594C>T c.2483C>T (p.Pro828Leu) c.3233C>T (p.Pro1078Leu) c.3239C>T (p.Pro1080Leu) | |
| 8 | g.115414648G>C | CA372063149 | TRPS1 | c.3260C>G (p.Pro1087Arg) c.3221C>G (p.Pro1074Arg) c.594C>G c.2483C>G (p.Pro828Arg) c.3233C>G (p.Pro1078Arg) c.3239C>G (p.Pro1080Arg) | |
| 8 | g.115414648G= | CA1812854087 | TRPS1 | c.3260C= (p.Pro1087=) c.3221C= (p.Pro1074=) c.594C= c.2483C= (p.Pro828=) c.3233C= (p.Pro1078=) c.3239C= (p.Pro1080=) | |
| 8 | g.115414648G>T | CA372063150 | TRPS1 | c.3260C>A (p.Pro1087His) c.3221C>A (p.Pro1074His) c.594C>A c.2483C>A (p.Pro828His) c.3233C>A (p.Pro1078His) c.3239C>A (p.Pro1080His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414649G>A | CA372063151 | TRPS1 | c.3259C>T (p.Pro1087Ser) c.3220C>T (p.Pro1074Ser) c.593C>T c.2482C>T (p.Pro828Ser) c.3232C>T (p.Pro1078Ser) c.3238C>T (p.Pro1080Ser) | COSMIC COSMIC |
| 8 | g.115414649G>C | CA372063152 | TRPS1 | c.3259C>G (p.Pro1087Ala) c.3220C>G (p.Pro1074Ala) c.593C>G c.2482C>G (p.Pro828Ala) c.3232C>G (p.Pro1078Ala) c.3238C>G (p.Pro1080Ala) | |
| 8 | g.115414649G>T | CA372063153 | TRPS1 | c.3259C>A (p.Pro1087Thr) c.3220C>A (p.Pro1074Thr) c.593C>A c.2482C>A (p.Pro828Thr) c.3232C>A (p.Pro1078Thr) c.3238C>A (p.Pro1080Thr) | |
| 8 | g.115414650T>A | CA372063154 | TRPS1 | c.3258A>T (p.Arg1086Ser) c.3219A>T (p.Arg1073Ser) c.592A>T c.2481A>T (p.Arg827Ser) c.3231A>T (p.Arg1077Ser) c.3237A>T (p.Arg1079Ser) | |
| 8 | g.115414650T>C | CA462658374 | TRPS1 | c.3258A>G (p.Arg1086=) c.3219A>G (p.Arg1073=) c.592A>G c.2481A>G (p.Arg827=) c.3231A>G (p.Arg1077=) c.3237A>G (p.Arg1079=) | |
| 8 | g.115414650T>G | CA372063155 | TRPS1 | c.3258A>C (p.Arg1086Ser) c.3219A>C (p.Arg1073Ser) c.592A>C c.2481A>C (p.Arg827Ser) c.3231A>C (p.Arg1077Ser) c.3237A>C (p.Arg1079Ser) | |
| 8 | g.115414651C>A | CA372063156 | TRPS1 | c.3257G>T (p.Arg1086Ile) c.3218G>T (p.Arg1073Ile) c.591G>T c.2480G>T (p.Arg827Ile) c.3230G>T (p.Arg1077Ile) c.3236G>T (p.Arg1079Ile) | |
| 8 | g.115414651C>G | CA372063158 | TRPS1 | c.3257G>C (p.Arg1086Thr) c.3218G>C (p.Arg1073Thr) c.591G>C c.2480G>C (p.Arg827Thr) c.3230G>C (p.Arg1077Thr) c.3236G>C (p.Arg1079Thr) | |
| 8 | g.115414651C>T | CA372063157 | TRPS1 | c.3257G>A (p.Arg1086Lys) c.3218G>A (p.Arg1073Lys) c.591G>A c.2480G>A (p.Arg827Lys) c.3230G>A (p.Arg1077Lys) c.3236G>A (p.Arg1079Lys) | |
| 8 | g.115414652T>A | CA372063159 | TRPS1 | c.3256A>T (p.Arg1086Ter) c.3217A>T (p.Arg1073Ter) c.590A>T c.2479A>T (p.Arg827Ter) c.3229A>T (p.Arg1077Ter) c.3235A>T (p.Arg1079Ter) | |
| 8 | g.115414652T>C | CA372063160 | TRPS1 | c.3256A>G (p.Arg1086Gly) c.3217A>G (p.Arg1073Gly) c.590A>G c.2479A>G (p.Arg827Gly) c.3229A>G (p.Arg1077Gly) c.3235A>G (p.Arg1079Gly) | |
| 8 | g.115414652T>G | CA462658375 | TRPS1 | c.3256A>C (p.Arg1086=) c.3217A>C (p.Arg1073=) c.590A>C c.2479A>C (p.Arg827=) c.3229A>C (p.Arg1077=) c.3235A>C (p.Arg1079=) | |
| 8 | g.115414653C>A | CA372063161 | TRPS1 | c.3255G>T (p.Met1085Ile) c.3216G>T (p.Met1072Ile) c.589G>T c.2478G>T (p.Met826Ile) c.3228G>T (p.Met1076Ile) c.3234G>T (p.Met1078Ile) | |
| 8 | g.115414653C>G | CA372063162 | TRPS1 | c.3255G>C (p.Met1085Ile) c.3216G>C (p.Met1072Ile) c.589G>C c.2478G>C (p.Met826Ile) c.3228G>C (p.Met1076Ile) c.3234G>C (p.Met1078Ile) | |
| 8 | g.115414653C>T | CA372063163 | TRPS1 | c.3255G>A (p.Met1085Ile) c.3216G>A (p.Met1072Ile) c.589G>A c.2478G>A (p.Met826Ile) c.3228G>A (p.Met1076Ile) c.3234G>A (p.Met1078Ile) | |
| 8 | g.115414654A= | CA1812854089 | TRPS1 | c.3254T= (p.Met1085=) c.3215T= (p.Met1072=) c.588T= c.2477T= (p.Met826=) c.3227T= (p.Met1076=) c.3233T= (p.Met1078=) | |
| 8 | g.115414654A>C | CA372063164 | TRPS1 | c.3254T>G (p.Met1085Arg) c.3215T>G (p.Met1072Arg) c.588T>G c.2477T>G (p.Met826Arg) c.3227T>G (p.Met1076Arg) c.3233T>G (p.Met1078Arg) | gnomAD v4 |
| 8 | g.115414654A>G | CA372063165 | TRPS1 | c.3254T>C (p.Met1085Thr) c.3215T>C (p.Met1072Thr) c.588T>C c.2477T>C (p.Met826Thr) c.3227T>C (p.Met1076Thr) c.3233T>C (p.Met1078Thr) | dbSNP gnomAD v2 |
| 8 | g.115414654A>T | CA372063166 | TRPS1 | c.3254T>A (p.Met1085Lys) c.3215T>A (p.Met1072Lys) c.588T>A c.2477T>A (p.Met826Lys) c.3227T>A (p.Met1076Lys) c.3233T>A (p.Met1078Lys) | |
| 8 | g.115414655T>A | CA372063167 | TRPS1 | c.3253A>T (p.Met1085Leu) c.3214A>T (p.Met1072Leu) c.587A>T c.2476A>T (p.Met826Leu) c.3226A>T (p.Met1076Leu) c.3232A>T (p.Met1078Leu) | |
| 8 | g.115414655T>C | CA372063168 | TRPS1 | c.3253A>G (p.Met1085Val) c.3214A>G (p.Met1072Val) c.587A>G c.2476A>G (p.Met826Val) c.3226A>G (p.Met1076Val) c.3232A>G (p.Met1078Val) | gnomAD v4 |
| 8 | g.115414655T>G | CA372063169 | TRPS1 | c.3253A>C (p.Met1085Leu) c.3214A>C (p.Met1072Leu) c.587A>C c.2476A>C (p.Met826Leu) c.3226A>C (p.Met1076Leu) c.3232A>C (p.Met1078Leu) | |
| 8 | g.115414656G>A | CA462658378 | TRPS1 | c.3252C>T (p.Tyr1084=) c.3213C>T (p.Tyr1071=) c.586C>T c.2475C>T (p.Tyr825=) c.3225C>T (p.Tyr1075=) c.3231C>T (p.Tyr1077=) | gnomAD v4 |
| 8 | g.115414656G>C | CA372063171 | TRPS1 | c.3252C>G (p.Tyr1084Ter) c.3213C>G (p.Tyr1071Ter) c.586C>G c.2475C>G (p.Tyr825Ter) c.3225C>G (p.Tyr1075Ter) c.3231C>G (p.Tyr1077Ter) | |
| 8 | g.115414656G>T | CA372063170 | TRPS1 | c.3252C>A (p.Tyr1084Ter) c.3213C>A (p.Tyr1071Ter) c.586C>A c.2475C>A (p.Tyr825Ter) c.3225C>A (p.Tyr1075Ter) c.3231C>A (p.Tyr1077Ter) | |
| 8 | g.115414657T>A | CA372063172 | TRPS1 | c.3251A>T (p.Tyr1084Phe) c.3212A>T (p.Tyr1071Phe) c.585A>T c.2474A>T (p.Tyr825Phe) c.3224A>T (p.Tyr1075Phe) c.3230A>T (p.Tyr1077Phe) | |
| 8 | g.115414657T>C | CA372063173 | TRPS1 | c.3251A>G (p.Tyr1084Cys) c.3212A>G (p.Tyr1071Cys) c.585A>G c.2474A>G (p.Tyr825Cys) c.3224A>G (p.Tyr1075Cys) c.3230A>G (p.Tyr1077Cys) | |
| 8 | g.115414657T>G | CA372063174 | TRPS1 | c.3251A>C (p.Tyr1084Ser) c.3212A>C (p.Tyr1071Ser) c.585A>C c.2474A>C (p.Tyr825Ser) c.3224A>C (p.Tyr1075Ser) c.3230A>C (p.Tyr1077Ser) | |
| 8 | g.115414658A>C | CA372063175 | TRPS1 | c.3250T>G (p.Tyr1084Asp) c.3211T>G (p.Tyr1071Asp) c.584T>G c.2473T>G (p.Tyr825Asp) c.3223T>G (p.Tyr1075Asp) c.3229T>G (p.Tyr1077Asp) | |
| 8 | g.115414658A>G | CA372063176 | TRPS1 | c.3250T>C (p.Tyr1084His) c.3211T>C (p.Tyr1071His) c.584T>C c.2473T>C (p.Tyr825His) c.3223T>C (p.Tyr1075His) c.3229T>C (p.Tyr1077His) | gnomAD v4 |
| 8 | g.115414658A>T | CA372063177 | TRPS1 | c.3250T>A (p.Tyr1084Asn) c.3211T>A (p.Tyr1071Asn) c.584T>A c.2473T>A (p.Tyr825Asn) c.3223T>A (p.Tyr1075Asn) c.3229T>A (p.Tyr1077Asn) | |
| 8 | g.115414659C>A | CA372063178 | TRPS1 | c.3249G>T (p.Lys1083Asn) c.3210G>T (p.Lys1070Asn) c.583G>T c.2472G>T (p.Lys824Asn) c.3222G>T (p.Lys1074Asn) c.3228G>T (p.Lys1076Asn) | |
| 8 | g.115414659C>G | CA372063179 | TRPS1 | c.3249G>C (p.Lys1083Asn) c.3210G>C (p.Lys1070Asn) c.583G>C c.2472G>C (p.Lys824Asn) c.3222G>C (p.Lys1074Asn) c.3228G>C (p.Lys1076Asn) | gnomAD v4 |
| 8 | g.115414659C>T | CA462658380 | TRPS1 | c.3249G>A (p.Lys1083=) c.3210G>A (p.Lys1070=) c.583G>A c.2472G>A (p.Lys824=) c.3222G>A (p.Lys1074=) c.3228G>A (p.Lys1076=) | |
| 8 | g.115414660T>A | CA372063180 | TRPS1 | c.3248A>T (p.Lys1083Met) c.3209A>T (p.Lys1070Met) c.582A>T c.2471A>T (p.Lys824Met) c.3221A>T (p.Lys1074Met) c.3227A>T (p.Lys1076Met) | COSMIC COSMIC |
| 8 | g.115414660T>C | CA372063181 | TRPS1 | c.3248A>G (p.Lys1083Arg) c.3209A>G (p.Lys1070Arg) c.582A>G c.2471A>G (p.Lys824Arg) c.3221A>G (p.Lys1074Arg) c.3227A>G (p.Lys1076Arg) | |
| 8 | g.115414660T>G | CA372063182 | TRPS1 | c.3248A>C (p.Lys1083Thr) c.3209A>C (p.Lys1070Thr) c.582A>C c.2471A>C (p.Lys824Thr) c.3221A>C (p.Lys1074Thr) c.3227A>C (p.Lys1076Thr) | |
| 8 | g.115414663del | CA2573142807 | TRPS1 | c.3248del (p.Lys1083SerfsTer3) c.3209del (p.Lys1070SerfsTer3) c.582del c.2471del (p.Lys824SerfsTer3) c.3221del (p.Lys1074SerfsTer3) c.3227del (p.Lys1076SerfsTer3) | ClinVar dbSNP |
| 8 | g.115414661T>A | CA372063183 | TRPS1 | c.3247A>T (p.Lys1083Ter) c.3208A>T (p.Lys1070Ter) c.581A>T c.2470A>T (p.Lys824Ter) c.3220A>T (p.Lys1074Ter) c.3226A>T (p.Lys1076Ter) | |
| 8 | g.115414661T>C | CA372063184 | TRPS1 | c.3247A>G (p.Lys1083Glu) c.3208A>G (p.Lys1070Glu) c.581A>G c.2470A>G (p.Lys824Glu) c.3220A>G (p.Lys1074Glu) c.3226A>G (p.Lys1076Glu) | gnomAD v4 |
| 8 | g.115414661T>G | CA372063185 | TRPS1 | c.3247A>C (p.Lys1083Gln) c.3208A>C (p.Lys1070Gln) c.581A>C c.2470A>C (p.Lys824Gln) c.3220A>C (p.Lys1074Gln) c.3226A>C (p.Lys1076Gln) | |
| 8 | g.115414662T>A | CA372063186 | TRPS1 | c.3246A>T (p.Glu1082Asp) c.3207A>T (p.Glu1069Asp) c.580A>T c.2469A>T (p.Glu823Asp) c.3219A>T (p.Glu1073Asp) c.3225A>T (p.Glu1075Asp) | |
| 8 | g.115414662T>C | CA462658384 | TRPS1 | c.3246A>G (p.Glu1082=) c.3207A>G (p.Glu1069=) c.580A>G c.2469A>G (p.Glu823=) c.3219A>G (p.Glu1073=) c.3225A>G (p.Glu1075=) | |
| 8 | g.115414662T>G | CA372063187 | TRPS1 | c.3246A>C (p.Glu1082Asp) c.3207A>C (p.Glu1069Asp) c.580A>C c.2469A>C (p.Glu823Asp) c.3219A>C (p.Glu1073Asp) c.3225A>C (p.Glu1075Asp) | |
| 8 | g.115414663T>A | CA372063188 | TRPS1 | c.3245A>T (p.Glu1082Val) c.3206A>T (p.Glu1069Val) c.579A>T c.2468A>T (p.Glu823Val) c.3218A>T (p.Glu1073Val) c.3224A>T (p.Glu1075Val) | |
| 8 | g.115414663T>C | CA372063189 | TRPS1 | c.3245A>G (p.Glu1082Gly) c.3206A>G (p.Glu1069Gly) c.579A>G c.2468A>G (p.Glu823Gly) c.3218A>G (p.Glu1073Gly) c.3224A>G (p.Glu1075Gly) | |
| 8 | g.115414663T>G | CA372063190 | TRPS1 | c.3245A>C (p.Glu1082Ala) c.3206A>C (p.Glu1069Ala) c.579A>C c.2468A>C (p.Glu823Ala) c.3218A>C (p.Glu1073Ala) c.3224A>C (p.Glu1075Ala) | |
| 8 | g.115414664C>A | CA372063191 | TRPS1 | c.3244G>T (p.Glu1082Ter) c.3205G>T (p.Glu1069Ter) c.578G>T c.2467G>T (p.Glu823Ter) c.3217G>T (p.Glu1073Ter) c.3223G>T (p.Glu1075Ter) | |
| 8 | g.115414664C>G | CA372063192 | TRPS1 | c.3244G>C (p.Glu1082Gln) c.3205G>C (p.Glu1069Gln) c.578G>C c.2467G>C (p.Glu823Gln) c.3217G>C (p.Glu1073Gln) c.3223G>C (p.Glu1075Gln) | |
| 8 | g.115414664C>T | CA372063193 | TRPS1 | c.3244G>A (p.Glu1082Lys) c.3205G>A (p.Glu1069Lys) c.578G>A c.2467G>A (p.Glu823Lys) c.3217G>A (p.Glu1073Lys) c.3223G>A (p.Glu1075Lys) | |
| 8 | g.115414665T>A | CA462658390 | TRPS1 | c.3243A>T (p.Ile1081=) c.3204A>T (p.Ile1068=) c.577A>T c.2466A>T (p.Ile822=) c.3216A>T (p.Ile1072=) c.3222A>T (p.Ile1074=) | |
| 8 | g.115414665T>C | CA372063194 | TRPS1 | c.3243A>G (p.Ile1081Met) c.3204A>G (p.Ile1068Met) c.577A>G c.2466A>G (p.Ile822Met) c.3216A>G (p.Ile1072Met) c.3222A>G (p.Ile1074Met) | gnomAD v4 COSMIC COSMIC |
| 8 | g.115414665T>G | CA462658389 | TRPS1 | c.3243A>C (p.Ile1081=) c.3204A>C (p.Ile1068=) c.577A>C c.2466A>C (p.Ile822=) c.3216A>C (p.Ile1072=) c.3222A>C (p.Ile1074=) | |
| 8 | g.115414666A>C | CA372063195 | TRPS1 | c.3242T>G (p.Ile1081Arg) c.3203T>G (p.Ile1068Arg) c.576T>G c.2465T>G (p.Ile822Arg) c.3215T>G (p.Ile1072Arg) c.3221T>G (p.Ile1074Arg) | |
| 8 | g.115414666A>G | CA372063196 | TRPS1 | c.3242T>C (p.Ile1081Thr) c.3203T>C (p.Ile1068Thr) c.576T>C c.2465T>C (p.Ile822Thr) c.3215T>C (p.Ile1072Thr) c.3221T>C (p.Ile1074Thr) | |
| 8 | g.115414666A>T | CA372063197 | TRPS1 | c.3242T>A (p.Ile1081Lys) c.3203T>A (p.Ile1068Lys) c.576T>A c.2465T>A (p.Ile822Lys) c.3215T>A (p.Ile1072Lys) c.3221T>A (p.Ile1074Lys) | |
| 8 | g.115414667T>A | CA372063198 | TRPS1 | c.3241A>T (p.Ile1081Leu) c.3202A>T (p.Ile1068Leu) c.575A>T c.2464A>T (p.Ile822Leu) c.3214A>T (p.Ile1072Leu) c.3220A>T (p.Ile1074Leu) | |
| 8 | g.115414667T>C | CA4851509 | TRPS1 | c.3241A>G (p.Ile1081Val) c.3202A>G (p.Ile1068Val) c.575A>G c.2464A>G (p.Ile822Val) c.3214A>G (p.Ile1072Val) c.3220A>G (p.Ile1074Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414667T>G | CA372063199 | TRPS1 | c.3241A>C (p.Ile1081Leu) c.3202A>C (p.Ile1068Leu) c.575A>C c.2464A>C (p.Ile822Leu) c.3214A>C (p.Ile1072Leu) c.3220A>C (p.Ile1074Leu) | |
| 8 | g.115414667T= | CA1812854094 | TRPS1 | c.3241A= (p.Ile1081=) c.3202A= (p.Ile1068=) c.575A= c.2464A= (p.Ile822=) c.3214A= (p.Ile1072=) c.3220A= (p.Ile1074=) | |
| 8 | g.115414668A>C | CA462658393 | TRPS1 | c.3240T>G (p.Pro1080=) c.3201T>G (p.Pro1067=) c.574T>G c.2463T>G (p.Pro821=) c.3213T>G (p.Pro1071=) c.3219T>G (p.Pro1073=) | |
| 8 | g.115414668A>G | CA462658394 | TRPS1 | c.3240T>C (p.Pro1080=) c.3201T>C (p.Pro1067=) c.574T>C c.2463T>C (p.Pro821=) c.3213T>C (p.Pro1071=) c.3219T>C (p.Pro1073=) | |
| 8 | g.115414668A>T | CA462658395 | TRPS1 | c.3240T>A (p.Pro1080=) c.3201T>A (p.Pro1067=) c.574T>A c.2463T>A (p.Pro821=) c.3213T>A (p.Pro1071=) c.3219T>A (p.Pro1073=) | |
| 8 | g.115414669G>A | CA372063201 | TRPS1 | c.3239C>T (p.Pro1080Leu) c.3200C>T (p.Pro1067Leu) c.573C>T c.2462C>T (p.Pro821Leu) c.3212C>T (p.Pro1071Leu) c.3218C>T (p.Pro1073Leu) | |
| 8 | g.115414669G>C | CA372063202 | TRPS1 | c.3239C>G (p.Pro1080Arg) c.3200C>G (p.Pro1067Arg) c.573C>G c.2462C>G (p.Pro821Arg) c.3212C>G (p.Pro1071Arg) c.3218C>G (p.Pro1073Arg) | gnomAD v4 |
| 8 | g.115414669G>T | CA372063200 | TRPS1 | c.3239C>A (p.Pro1080His) c.3200C>A (p.Pro1067His) c.573C>A c.2462C>A (p.Pro821His) c.3212C>A (p.Pro1071His) c.3218C>A (p.Pro1073His) | |
| 8 | g.115414670G>A | CA372063203 | TRPS1 | c.3238C>T (p.Pro1080Ser) c.3199C>T (p.Pro1067Ser) c.572C>T c.2461C>T (p.Pro821Ser) c.3211C>T (p.Pro1071Ser) c.3217C>T (p.Pro1073Ser) | gnomAD v4 |
| 8 | g.115414670G>C | CA372063205 | TRPS1 | c.3238C>G (p.Pro1080Ala) c.3199C>G (p.Pro1067Ala) c.572C>G c.2461C>G (p.Pro821Ala) c.3211C>G (p.Pro1071Ala) c.3217C>G (p.Pro1073Ala) | |
| 8 | g.115414670G>T | CA372063204 | TRPS1 | c.3238C>A (p.Pro1080Thr) c.3199C>A (p.Pro1067Thr) c.572C>A c.2461C>A (p.Pro821Thr) c.3211C>A (p.Pro1071Thr) c.3217C>A (p.Pro1073Thr) | |
| 8 | g.115414671A= | CA1812854098 | TRPS1 | c.3237T= (p.Ser1079=) c.3198T= (p.Ser1066=) c.571T= c.2460T= (p.Ser820=) c.3210T= (p.Ser1070=) c.3216T= (p.Ser1072=) | |
| 8 | g.115414671A>C | CA372063206 | TRPS1 | c.3237T>G (p.Ser1079Arg) c.3198T>G (p.Ser1066Arg) c.571T>G c.2460T>G (p.Ser820Arg) c.3210T>G (p.Ser1070Arg) c.3216T>G (p.Ser1072Arg) | |
| 8 | g.115414671A>G | CA462658397 | TRPS1 | c.3237T>C (p.Ser1079=) c.3198T>C (p.Ser1066=) c.571T>C c.2460T>C (p.Ser820=) c.3210T>C (p.Ser1070=) c.3216T>C (p.Ser1072=) | dbSNP |
| 8 | g.115414671A>T | CA372063207 | TRPS1 | c.3237T>A (p.Ser1079Arg) c.3198T>A (p.Ser1066Arg) c.571T>A c.2460T>A (p.Ser820Arg) c.3210T>A (p.Ser1070Arg) c.3216T>A (p.Ser1072Arg) | |
| 8 | g.115414672C>A | CA372063208 | TRPS1 | c.3236G>T (p.Ser1079Ile) c.3197G>T (p.Ser1066Ile) c.570G>T c.2459G>T (p.Ser820Ile) c.3209G>T (p.Ser1070Ile) c.3215G>T (p.Ser1072Ile) | |
| 8 | g.115414672C= | CA1812854101 | TRPS1 | c.3236G= (p.Ser1079=) c.3197G= (p.Ser1066=) c.570G= c.2459G= (p.Ser820=) c.3209G= (p.Ser1070=) c.3215G= (p.Ser1072=) | |
| 8 | g.115414672C>G | CA372063210 | TRPS1 | c.3236G>C (p.Ser1079Thr) c.3197G>C (p.Ser1066Thr) c.570G>C c.2459G>C (p.Ser820Thr) c.3209G>C (p.Ser1070Thr) c.3215G>C (p.Ser1072Thr) | dbSNP |
| 8 | g.115414672C>T | CA372063209 | TRPS1 | c.3236G>A (p.Ser1079Asn) c.3197G>A (p.Ser1066Asn) c.570G>A c.2459G>A (p.Ser820Asn) c.3209G>A (p.Ser1070Asn) c.3215G>A (p.Ser1072Asn) | |
| 8 | g.115414673T>A | CA372063211 | TRPS1 | c.3235A>T (p.Ser1079Cys) c.3196A>T (p.Ser1066Cys) c.569A>T c.2458A>T (p.Ser820Cys) c.3208A>T (p.Ser1070Cys) c.3214A>T (p.Ser1072Cys) | |
| 8 | g.115414673T>C | CA372063212 | TRPS1 | c.3235A>G (p.Ser1079Gly) c.3196A>G (p.Ser1066Gly) c.569A>G c.2458A>G (p.Ser820Gly) c.3208A>G (p.Ser1070Gly) c.3214A>G (p.Ser1072Gly) | |
| 8 | g.115414673T>G | CA372063213 | TRPS1 | c.3235A>C (p.Ser1079Arg) c.3196A>C (p.Ser1066Arg) c.569A>C c.2458A>C (p.Ser820Arg) c.3208A>C (p.Ser1070Arg) c.3214A>C (p.Ser1072Arg) | |
| 8 | g.115414674G>A | CA4851510 | TRPS1 | c.3234C>T (p.Gly1078=) c.3195C>T (p.Gly1065=) c.568C>T c.2457C>T (p.Gly819=) c.3207C>T (p.Gly1069=) c.3213C>T (p.Gly1071=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414674G>C | CA462658399 | TRPS1 | c.3234C>G (p.Gly1078=) c.3195C>G (p.Gly1065=) c.568C>G c.2457C>G (p.Gly819=) c.3207C>G (p.Gly1069=) c.3213C>G (p.Gly1071=) | |
| 8 | g.115414674G= | CA1812854105 | TRPS1 | c.3234C= (p.Gly1078=) c.3195C= (p.Gly1065=) c.568C= c.2457C= (p.Gly819=) c.3207C= (p.Gly1069=) c.3213C= (p.Gly1071=) | |
| 8 | g.115414674G>T | CA462658400 | TRPS1 | c.3234C>A (p.Gly1078=) c.3195C>A (p.Gly1065=) c.568C>A c.2457C>A (p.Gly819=) c.3207C>A (p.Gly1069=) c.3213C>A (p.Gly1071=) | |
| 8 | g.115414675C>A | CA372063214 | TRPS1 | c.3233G>T (p.Gly1078Val) c.3194G>T (p.Gly1065Val) c.567G>T c.2456G>T (p.Gly819Val) c.3206G>T (p.Gly1069Val) c.3212G>T (p.Gly1071Val) | |
| 8 | g.115414675C>G | CA372063215 | TRPS1 | c.3233G>C (p.Gly1078Ala) c.3194G>C (p.Gly1065Ala) c.567G>C c.2456G>C (p.Gly819Ala) c.3206G>C (p.Gly1069Ala) c.3212G>C (p.Gly1071Ala) | |
| 8 | g.115414675C>T | CA372063216 | TRPS1 | c.3233G>A (p.Gly1078Asp) c.3194G>A (p.Gly1065Asp) c.567G>A c.2456G>A (p.Gly819Asp) c.3206G>A (p.Gly1069Asp) c.3212G>A (p.Gly1071Asp) | |
| 8 | g.115414676C>A | CA372063217 | TRPS1 | c.3232G>T (p.Gly1078Cys) c.3193G>T (p.Gly1065Cys) c.566G>T c.2455G>T (p.Gly819Cys) c.3205G>T (p.Gly1069Cys) c.3211G>T (p.Gly1071Cys) | |
| 8 | g.115414676C>G | CA372063218 | TRPS1 | c.3232G>C (p.Gly1078Arg) c.3193G>C (p.Gly1065Arg) c.566G>C c.2455G>C (p.Gly819Arg) c.3205G>C (p.Gly1069Arg) c.3211G>C (p.Gly1071Arg) | |
| 8 | g.115414676C>T | CA372063219 | TRPS1 | c.3232G>A (p.Gly1078Ser) c.3193G>A (p.Gly1065Ser) c.566G>A c.2455G>A (p.Gly819Ser) c.3205G>A (p.Gly1069Ser) c.3211G>A (p.Gly1071Ser) | |
| 8 | g.115414677T>A | CA372063220 | TRPS1 | c.3231A>T (p.Arg1077Ser) c.3192A>T (p.Arg1064Ser) c.565A>T c.2454A>T (p.Arg818Ser) c.3204A>T (p.Arg1068Ser) c.3210A>T (p.Arg1070Ser) | |
| 8 | g.115414677T>C | CA462658402 | TRPS1 | c.3231A>G (p.Arg1077=) c.3192A>G (p.Arg1064=) c.565A>G c.2454A>G (p.Arg818=) c.3204A>G (p.Arg1068=) c.3210A>G (p.Arg1070=) | |
| 8 | g.115414677T>G | CA372063221 | TRPS1 | c.3231A>C (p.Arg1077Ser) c.3192A>C (p.Arg1064Ser) c.565A>C c.2454A>C (p.Arg818Ser) c.3204A>C (p.Arg1068Ser) c.3210A>C (p.Arg1070Ser) | |
| 8 | g.115414678C>A | CA372063224 | TRPS1 | c.3230G>T (p.Arg1077Ile) c.3191G>T (p.Arg1064Ile) c.564G>T c.2453G>T (p.Arg818Ile) c.3203G>T (p.Arg1068Ile) c.3209G>T (p.Arg1070Ile) | |
| 8 | g.115414678C>G | CA372063223 | TRPS1 | c.3230G>C (p.Arg1077Thr) c.3191G>C (p.Arg1064Thr) c.564G>C c.2453G>C (p.Arg818Thr) c.3203G>C (p.Arg1068Thr) c.3209G>C (p.Arg1070Thr) | |
| 8 | g.115414678C>T | CA372063222 | TRPS1 | c.3230G>A (p.Arg1077Lys) c.3191G>A (p.Arg1064Lys) c.564G>A c.2453G>A (p.Arg818Lys) c.3203G>A (p.Arg1068Lys) c.3209G>A (p.Arg1070Lys) | |
| 8 | g.115414679T>A | CA372063225 | TRPS1 | c.3229A>T (p.Arg1077Ter) c.3190A>T (p.Arg1064Ter) c.563A>T c.2452A>T (p.Arg818Ter) c.3202A>T (p.Arg1068Ter) c.3208A>T (p.Arg1070Ter) | ClinVar |
| 8 | g.115414679T>C | CA372063226 | TRPS1 | c.3229A>G (p.Arg1077Gly) c.3190A>G (p.Arg1064Gly) c.563A>G c.2452A>G (p.Arg818Gly) c.3202A>G (p.Arg1068Gly) c.3208A>G (p.Arg1070Gly) | |
| 8 | g.115414679T>G | CA462658403 | TRPS1 | c.3229A>C (p.Arg1077=) c.3190A>C (p.Arg1064=) c.563A>C c.2452A>C (p.Arg818=) c.3202A>C (p.Arg1068=) c.3208A>C (p.Arg1070=) | |
| 8 | g.115414680C>A | CA372063227 | TRPS1 | c.3228G>T (p.Glu1076Asp) c.3189G>T (p.Glu1063Asp) c.562G>T c.2451G>T (p.Glu817Asp) c.3201G>T (p.Glu1067Asp) c.3207G>T (p.Glu1069Asp) | |
| 8 | g.115414680C= | CA1812854107 | TRPS1 | c.3228G= (p.Glu1076=) c.3189G= (p.Glu1063=) c.562G= c.2451G= (p.Glu817=) c.3201G= (p.Glu1067=) c.3207G= (p.Glu1069=) | |
| 8 | g.115414680C>G | CA372063228 | TRPS1 | c.3228G>C (p.Glu1076Asp) c.3189G>C (p.Glu1063Asp) c.562G>C c.2451G>C (p.Glu817Asp) c.3201G>C (p.Glu1067Asp) c.3207G>C (p.Glu1069Asp) | |
| 8 | g.115414680C>T | CA184469702 | TRPS1 | c.3228G>A (p.Glu1076=) c.3189G>A (p.Glu1063=) c.562G>A c.2451G>A (p.Glu817=) c.3201G>A (p.Glu1067=) c.3207G>A (p.Glu1069=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414681T>A | CA372063229 | TRPS1 | c.3227A>T (p.Glu1076Val) c.3188A>T (p.Glu1063Val) c.561A>T c.2450A>T (p.Glu817Val) c.3200A>T (p.Glu1067Val) c.3206A>T (p.Glu1069Val) | |
| 8 | g.115414681T>C | CA372063230 | TRPS1 | c.3227A>G (p.Glu1076Gly) c.3188A>G (p.Glu1063Gly) c.561A>G c.2450A>G (p.Glu817Gly) c.3200A>G (p.Glu1067Gly) c.3206A>G (p.Glu1069Gly) | |
| 8 | g.115414681T>G | CA372063231 | TRPS1 | c.3227A>C (p.Glu1076Ala) c.3188A>C (p.Glu1063Ala) c.561A>C c.2450A>C (p.Glu817Ala) c.3200A>C (p.Glu1067Ala) c.3206A>C (p.Glu1069Ala) | dbSNP |
| 8 | g.115414681T= | CA1812854112 | TRPS1 | c.3227A= (p.Glu1076=) c.3188A= (p.Glu1063=) c.561A= c.2450A= (p.Glu817=) c.3200A= (p.Glu1067=) c.3206A= (p.Glu1069=) | |
| 8 | g.115414682C>A | CA372063232 | TRPS1 | c.3226G>T (p.Glu1076Ter) c.3187G>T (p.Glu1063Ter) c.560G>T c.2449G>T (p.Glu817Ter) c.3199G>T (p.Glu1067Ter) c.3205G>T (p.Glu1069Ter) | |
| 8 | g.115414682C>G | CA372063233 | TRPS1 | c.3226G>C (p.Glu1076Gln) c.3187G>C (p.Glu1063Gln) c.560G>C c.2449G>C (p.Glu817Gln) c.3199G>C (p.Glu1067Gln) c.3205G>C (p.Glu1069Gln) | |
| 8 | g.115414682C>T | CA372063234 | TRPS1 | c.3226G>A (p.Glu1076Lys) c.3187G>A (p.Glu1063Lys) c.560G>A c.2449G>A (p.Glu817Lys) c.3199G>A (p.Glu1067Lys) c.3205G>A (p.Glu1069Lys) | |
| 8 | g.115414683A>C | CA462658407 | TRPS1 | c.3225T>G (p.Ser1075=) c.3186T>G (p.Ser1062=) c.559T>G c.2448T>G (p.Ser816=) c.3198T>G (p.Ser1066=) c.3204T>G (p.Ser1068=) | |
| 8 | g.115414683A>G | CA462658409 | TRPS1 | c.3225T>C (p.Ser1075=) c.3186T>C (p.Ser1062=) c.559T>C c.2448T>C (p.Ser816=) c.3198T>C (p.Ser1066=) c.3204T>C (p.Ser1068=) | |
| 8 | g.115414683A>T | CA462658410 | TRPS1 | c.3225T>A (p.Ser1075=) c.3186T>A (p.Ser1062=) c.559T>A c.2448T>A (p.Ser816=) c.3198T>A (p.Ser1066=) c.3204T>A (p.Ser1068=) | |
| 8 | g.115414684G>A | CA372063235 | TRPS1 | c.3224C>T (p.Ser1075Phe) c.3185C>T (p.Ser1062Phe) c.558C>T c.2447C>T (p.Ser816Phe) c.3197C>T (p.Ser1066Phe) c.3203C>T (p.Ser1068Phe) | |
| 8 | g.115414684G>C | CA4851511 | TRPS1 | c.3224C>G (p.Ser1075Cys) c.3185C>G (p.Ser1062Cys) c.558C>G c.2447C>G (p.Ser816Cys) c.3197C>G (p.Ser1066Cys) c.3203C>G (p.Ser1068Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414684G= | CA1812854118 | TRPS1 | c.3224C= (p.Ser1075=) c.3185C= (p.Ser1062=) c.558C= c.2447C= (p.Ser816=) c.3197C= (p.Ser1066=) c.3203C= (p.Ser1068=) | |
| 8 | g.115414684G>T | CA372063236 | TRPS1 | c.3224C>A (p.Ser1075Tyr) c.3185C>A (p.Ser1062Tyr) c.558C>A c.2447C>A (p.Ser816Tyr) c.3197C>A (p.Ser1066Tyr) c.3203C>A (p.Ser1068Tyr) | |
| 8 | g.115414685A>C | CA372063238 | TRPS1 | c.3223T>G (p.Ser1075Ala) c.3184T>G (p.Ser1062Ala) c.557T>G c.2446T>G (p.Ser816Ala) c.3196T>G (p.Ser1066Ala) c.3202T>G (p.Ser1068Ala) | |
| 8 | g.115414685A>G | CA372063239 | TRPS1 | c.3223T>C (p.Ser1075Pro) c.3184T>C (p.Ser1062Pro) c.557T>C c.2446T>C (p.Ser816Pro) c.3196T>C (p.Ser1066Pro) c.3202T>C (p.Ser1068Pro) | |
| 8 | g.115414685A>T | CA372063237 | TRPS1 | c.3223T>A (p.Ser1075Thr) c.3184T>A (p.Ser1062Thr) c.557T>A c.2446T>A (p.Ser816Thr) c.3196T>A (p.Ser1066Thr) c.3202T>A (p.Ser1068Thr) | |
| 8 | g.115414686A>C | CA372063240 | TRPS1 | c.3222T>G (p.Ser1074Arg) c.3183T>G (p.Ser1061Arg) c.556T>G c.2445T>G (p.Ser815Arg) c.3195T>G (p.Ser1065Arg) c.3201T>G (p.Ser1067Arg) | |
| 8 | g.115414686A>G | CA462658412 | TRPS1 | c.3222T>C (p.Ser1074=) c.3183T>C (p.Ser1061=) c.556T>C c.2445T>C (p.Ser815=) c.3195T>C (p.Ser1065=) c.3201T>C (p.Ser1067=) | |
| 8 | g.115414686A>T | CA372063241 | TRPS1 | c.3222T>A (p.Ser1074Arg) c.3183T>A (p.Ser1061Arg) c.556T>A c.2445T>A (p.Ser815Arg) c.3195T>A (p.Ser1065Arg) c.3201T>A (p.Ser1067Arg) | |
| 8 | g.115414687C>A | CA372063242 | TRPS1 | c.3221G>T (p.Ser1074Ile) c.3182G>T (p.Ser1061Ile) c.555G>T c.2444G>T (p.Ser815Ile) c.3194G>T (p.Ser1065Ile) c.3200G>T (p.Ser1067Ile) | |
| 8 | g.115414687C>G | CA372063243 | TRPS1 | c.3221G>C (p.Ser1074Thr) c.3182G>C (p.Ser1061Thr) c.555G>C c.2444G>C (p.Ser815Thr) c.3194G>C (p.Ser1065Thr) c.3200G>C (p.Ser1067Thr) | |
| 8 | g.115414687C>T | CA372063244 | TRPS1 | c.3221G>A (p.Ser1074Asn) c.3182G>A (p.Ser1061Asn) c.555G>A c.2444G>A (p.Ser815Asn) c.3194G>A (p.Ser1065Asn) c.3200G>A (p.Ser1067Asn) | |
| 8 | g.115414688T>A | CA372063245 | TRPS1 | c.3220A>T (p.Ser1074Cys) c.3181A>T (p.Ser1061Cys) c.554A>T c.2443A>T (p.Ser815Cys) c.3193A>T (p.Ser1065Cys) c.3199A>T (p.Ser1067Cys) | gnomAD v4 |
| 8 | g.115414688T>C | CA372063246 | TRPS1 | c.3220A>G (p.Ser1074Gly) c.3181A>G (p.Ser1061Gly) c.554A>G c.2443A>G (p.Ser815Gly) c.3193A>G (p.Ser1065Gly) c.3199A>G (p.Ser1067Gly) | |
| 8 | g.115414688T>G | CA372063247 | TRPS1 | c.3220A>C (p.Ser1074Arg) c.3181A>C (p.Ser1061Arg) c.554A>C c.2443A>C (p.Ser815Arg) c.3193A>C (p.Ser1065Arg) c.3199A>C (p.Ser1067Arg) | |
| 8 | g.115414689T>A | CA462658415 | TRPS1 | c.3219A>T (p.Gly1073=) c.3180A>T (p.Gly1060=) c.553A>T c.2442A>T (p.Gly814=) c.3192A>T (p.Gly1064=) c.3198A>T (p.Gly1066=) | |
| 8 | g.115414689T>C | CA462658416 | TRPS1 | c.3219A>G (p.Gly1073=) c.3180A>G (p.Gly1060=) c.553A>G c.2442A>G (p.Gly814=) c.3192A>G (p.Gly1064=) c.3198A>G (p.Gly1066=) | |
| 8 | g.115414689T>G | CA462658417 | TRPS1 | c.3219A>C (p.Gly1073=) c.3180A>C (p.Gly1060=) c.553A>C c.2442A>C (p.Gly814=) c.3192A>C (p.Gly1064=) c.3198A>C (p.Gly1066=) | |
| 8 | g.115414690C>A | CA372063248 | TRPS1 | c.3218G>T (p.Gly1073Val) c.3179G>T (p.Gly1060Val) c.552G>T c.2441G>T (p.Gly814Val) c.3191G>T (p.Gly1064Val) c.3197G>T (p.Gly1066Val) | |
| 8 | g.115414690C>G | CA372063249 | TRPS1 | c.3218G>C (p.Gly1073Ala) c.3179G>C (p.Gly1060Ala) c.552G>C c.2441G>C (p.Gly814Ala) c.3191G>C (p.Gly1064Ala) c.3197G>C (p.Gly1066Ala) | |
| 8 | g.115414690C>T | CA372063250 | TRPS1 | c.3218G>A (p.Gly1073Glu) c.3179G>A (p.Gly1060Glu) c.552G>A c.2441G>A (p.Gly814Glu) c.3191G>A (p.Gly1064Glu) c.3197G>A (p.Gly1066Glu) | |
| 8 | g.115414691C>A | CA372063253 | TRPS1 | c.3217G>T (p.Gly1073Ter) c.3178G>T (p.Gly1060Ter) c.551G>T c.2440G>T (p.Gly814Ter) c.3190G>T (p.Gly1064Ter) c.3196G>T (p.Gly1066Ter) | |
| 8 | g.115414691C>G | CA372063251 | TRPS1 | c.3217G>C (p.Gly1073Arg) c.3178G>C (p.Gly1060Arg) c.551G>C c.2440G>C (p.Gly814Arg) c.3190G>C (p.Gly1064Arg) c.3196G>C (p.Gly1066Arg) | |
| 8 | g.115414691C>T | CA372063252 | TRPS1 | c.3217G>A (p.Gly1073Arg) c.3178G>A (p.Gly1060Arg) c.551G>A c.2440G>A (p.Gly814Arg) c.3190G>A (p.Gly1064Arg) c.3196G>A (p.Gly1066Arg) | |
| 8 | g.115414692T>A | CA372063254 | TRPS1 | c.3216A>T (p.Lys1072Asn) c.3177A>T (p.Lys1059Asn) c.550A>T c.2439A>T (p.Lys813Asn) c.3189A>T (p.Lys1063Asn) c.3195A>T (p.Lys1065Asn) | COSMIC COSMIC |
| 8 | g.115414692T>C | CA462658421 | TRPS1 | c.3216A>G (p.Lys1072=) c.3177A>G (p.Lys1059=) c.550A>G c.2439A>G (p.Lys813=) c.3189A>G (p.Lys1063=) c.3195A>G (p.Lys1065=) | |
| 8 | g.115414692T>G | CA372063255 | TRPS1 | c.3216A>C (p.Lys1072Asn) c.3177A>C (p.Lys1059Asn) c.550A>C c.2439A>C (p.Lys813Asn) c.3189A>C (p.Lys1063Asn) c.3195A>C (p.Lys1065Asn) | |
| 8 | g.115414693T>A | CA372063256 | TRPS1 | c.3215A>T (p.Lys1072Ile) c.3176A>T (p.Lys1059Ile) c.549A>T c.2438A>T (p.Lys813Ile) c.3188A>T (p.Lys1063Ile) c.3194A>T (p.Lys1065Ile) | |
| 8 | g.115414693T>C | CA372063257 | TRPS1 | c.3215A>G (p.Lys1072Arg) c.3176A>G (p.Lys1059Arg) c.549A>G c.2438A>G (p.Lys813Arg) c.3188A>G (p.Lys1063Arg) c.3194A>G (p.Lys1065Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414693T>G | CA372063258 | TRPS1 | c.3215A>C (p.Lys1072Thr) c.3176A>C (p.Lys1059Thr) c.549A>C c.2438A>C (p.Lys813Thr) c.3188A>C (p.Lys1063Thr) c.3194A>C (p.Lys1065Thr) | |
| 8 | g.115414694T>A | CA372063259 | TRPS1 | c.3214A>T (p.Lys1072Ter) c.3175A>T (p.Lys1059Ter) c.548A>T c.2437A>T (p.Lys813Ter) c.3187A>T (p.Lys1063Ter) c.3193A>T (p.Lys1065Ter) | |
| 8 | g.115414694T>C | CA372063260 | TRPS1 | c.3214A>G (p.Lys1072Glu) c.3175A>G (p.Lys1059Glu) c.548A>G c.2437A>G (p.Lys813Glu) c.3187A>G (p.Lys1063Glu) c.3193A>G (p.Lys1065Glu) | |
| 8 | g.115414694T>G | CA372063261 | TRPS1 | c.3214A>C (p.Lys1072Gln) c.3175A>C (p.Lys1059Gln) c.548A>C c.2437A>C (p.Lys813Gln) c.3187A>C (p.Lys1063Gln) c.3193A>C (p.Lys1065Gln) | |
| 8 | g.115414695C>A | CA462658425 | TRPS1 | c.3213G>T (p.Gly1071=) c.3174G>T (p.Gly1058=) c.547G>T c.2436G>T (p.Gly812=) c.3186G>T (p.Gly1062=) c.3192G>T (p.Gly1064=) | |
| 8 | g.115414695C>G | CA462658426 | TRPS1 | c.3213G>C (p.Gly1071=) c.3174G>C (p.Gly1058=) c.547G>C c.2436G>C (p.Gly812=) c.3186G>C (p.Gly1062=) c.3192G>C (p.Gly1064=) | |
| 8 | g.115414695C>T | CA462658427 | TRPS1 | c.3213G>A (p.Gly1071=) c.3174G>A (p.Gly1058=) c.547G>A c.2436G>A (p.Gly812=) c.3186G>A (p.Gly1062=) c.3192G>A (p.Gly1064=) | |
| 8 | g.115414696C>A | CA372063262 | TRPS1 | c.3212G>T (p.Gly1071Val) c.3173G>T (p.Gly1058Val) c.546G>T c.2435G>T (p.Gly812Val) c.3185G>T (p.Gly1062Val) c.3191G>T (p.Gly1064Val) | |
| 8 | g.115414696C>G | CA372063263 | TRPS1 | c.3212G>C (p.Gly1071Ala) c.3173G>C (p.Gly1058Ala) c.546G>C c.2435G>C (p.Gly812Ala) c.3185G>C (p.Gly1062Ala) c.3191G>C (p.Gly1064Ala) | |
| 8 | g.115414696C>T | CA372063264 | TRPS1 | c.3212G>A (p.Gly1071Glu) c.3173G>A (p.Gly1058Glu) c.546G>A c.2435G>A (p.Gly812Glu) c.3185G>A (p.Gly1062Glu) c.3191G>A (p.Gly1064Glu) | |
| 8 | g.115414697C>A | CA372063266 | TRPS1 | c.3211G>T (p.Gly1071Trp) c.3172G>T (p.Gly1058Trp) c.545G>T c.2434G>T (p.Gly812Trp) c.3184G>T (p.Gly1062Trp) c.3190G>T (p.Gly1064Trp) | gnomAD v4 |
| 8 | g.115414697C>G | CA372063267 | TRPS1 | c.3211G>C (p.Gly1071Arg) c.3172G>C (p.Gly1058Arg) c.545G>C c.2434G>C (p.Gly812Arg) c.3184G>C (p.Gly1062Arg) c.3190G>C (p.Gly1064Arg) | |
| 8 | g.115414697C>T | CA372063265 | TRPS1 | c.3211G>A (p.Gly1071Arg) c.3172G>A (p.Gly1058Arg) c.545G>A c.2434G>A (p.Gly812Arg) c.3184G>A (p.Gly1062Arg) c.3190G>A (p.Gly1064Arg) | |
| 8 | g.115414698T>A | CA372063268 | TRPS1 | c.3210A>T (p.Glu1070Asp) c.3171A>T (p.Glu1057Asp) c.544A>T c.2433A>T (p.Glu811Asp) c.3183A>T (p.Glu1061Asp) c.3189A>T (p.Glu1063Asp) | |
| 8 | g.115414698T>C | CA462658429 | TRPS1 | c.3210A>G (p.Glu1070=) c.3171A>G (p.Glu1057=) c.544A>G c.2433A>G (p.Glu811=) c.3183A>G (p.Glu1061=) c.3189A>G (p.Glu1063=) | gnomAD v4 |
| 8 | g.115414698T>G | CA372063269 | TRPS1 | c.3210A>C (p.Glu1070Asp) c.3171A>C (p.Glu1057Asp) c.544A>C c.2433A>C (p.Glu811Asp) c.3183A>C (p.Glu1061Asp) c.3189A>C (p.Glu1063Asp) | |
| 8 | g.115414699T>A | CA372063270 | TRPS1 | c.3209A>T (p.Glu1070Val) c.3170A>T (p.Glu1057Val) c.543A>T c.2432A>T (p.Glu811Val) c.3182A>T (p.Glu1061Val) c.3188A>T (p.Glu1063Val) | |
| 8 | g.115414699T>C | CA372063271 | TRPS1 | c.3209A>G (p.Glu1070Gly) c.3170A>G (p.Glu1057Gly) c.543A>G c.2432A>G (p.Glu811Gly) c.3182A>G (p.Glu1061Gly) c.3188A>G (p.Glu1063Gly) | |
| 8 | g.115414699T>G | CA372063272 | TRPS1 | c.3209A>C (p.Glu1070Ala) c.3170A>C (p.Glu1057Ala) c.543A>C c.2432A>C (p.Glu811Ala) c.3182A>C (p.Glu1061Ala) c.3188A>C (p.Glu1063Ala) | |
| 8 | g.115414700C>A | CA372063275 | TRPS1 | c.3208G>T (p.Glu1070Ter) c.3169G>T (p.Glu1057Ter) c.542G>T c.2431G>T (p.Glu811Ter) c.3181G>T (p.Glu1061Ter) c.3187G>T (p.Glu1063Ter) | |
| 8 | g.115414700C>G | CA372063274 | TRPS1 | c.3208G>C (p.Glu1070Gln) c.3169G>C (p.Glu1057Gln) c.542G>C c.2431G>C (p.Glu811Gln) c.3181G>C (p.Glu1061Gln) c.3187G>C (p.Glu1063Gln) | |
| 8 | g.115414700C>T | CA372063273 | TRPS1 | c.3208G>A (p.Glu1070Lys) c.3169G>A (p.Glu1057Lys) c.542G>A c.2431G>A (p.Glu811Lys) c.3181G>A (p.Glu1061Lys) c.3187G>A (p.Glu1063Lys) | |
| 8 | g.115414701A= | CA1812854121 | TRPS1 | c.3207T= (p.Ser1069=) c.3168T= (p.Ser1056=) c.541T= c.2430T= (p.Ser810=) c.3180T= (p.Ser1060=) c.3186T= (p.Ser1062=) | |
| 8 | g.115414701A>C | CA462658431 | TRPS1 | c.3207T>G (p.Ser1069=) c.3168T>G (p.Ser1056=) c.541T>G c.2430T>G (p.Ser810=) c.3180T>G (p.Ser1060=) c.3186T>G (p.Ser1062=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414701A>G | CA462658432 | TRPS1 | c.3207T>C (p.Ser1069=) c.3168T>C (p.Ser1056=) c.541T>C c.2430T>C (p.Ser810=) c.3180T>C (p.Ser1060=) c.3186T>C (p.Ser1062=) | dbSNP COSMIC COSMIC |
| 8 | g.115414701A>T | CA462658433 | TRPS1 | c.3207T>A (p.Ser1069=) c.3168T>A (p.Ser1056=) c.541T>A c.2430T>A (p.Ser810=) c.3180T>A (p.Ser1060=) c.3186T>A (p.Ser1062=) | |
| 8 | g.115414702G>A | CA372063276 | TRPS1 | c.3206C>T (p.Ser1069Phe) c.3167C>T (p.Ser1056Phe) c.540C>T c.2429C>T (p.Ser810Phe) c.3179C>T (p.Ser1060Phe) c.3185C>T (p.Ser1062Phe) | COSMIC COSMIC |
| 8 | g.115414702G>C | CA372063277 | TRPS1 | c.3206C>G (p.Ser1069Cys) c.3167C>G (p.Ser1056Cys) c.540C>G c.2429C>G (p.Ser810Cys) c.3179C>G (p.Ser1060Cys) c.3185C>G (p.Ser1062Cys) | |
| 8 | g.115414702G>T | CA372063278 | TRPS1 | c.3206C>A (p.Ser1069Tyr) c.3167C>A (p.Ser1056Tyr) c.540C>A c.2429C>A (p.Ser810Tyr) c.3179C>A (p.Ser1060Tyr) c.3185C>A (p.Ser1062Tyr) | COSMIC COSMIC |
| 8 | g.115414703A>C | CA372063279 | TRPS1 | c.3205T>G (p.Ser1069Ala) c.3166T>G (p.Ser1056Ala) c.539T>G c.2428T>G (p.Ser810Ala) c.3178T>G (p.Ser1060Ala) c.3184T>G (p.Ser1062Ala) | |
| 8 | g.115414703A>G | CA372063280 | TRPS1 | c.3205T>C (p.Ser1069Pro) c.3166T>C (p.Ser1056Pro) c.539T>C c.2428T>C (p.Ser810Pro) c.3178T>C (p.Ser1060Pro) c.3184T>C (p.Ser1062Pro) | |
| 8 | g.115414703A>T | CA372063281 | TRPS1 | c.3205T>A (p.Ser1069Thr) c.3166T>A (p.Ser1056Thr) c.539T>A c.2428T>A (p.Ser810Thr) c.3178T>A (p.Ser1060Thr) c.3184T>A (p.Ser1062Thr) | ClinVar gnomAD v4 |
| 8 | g.115414704T>A | CA462658437 | TRPS1 | c.3204A>T (p.Val1068=) c.3165A>T (p.Val1055=) c.538A>T c.2427A>T (p.Val809=) c.3177A>T (p.Val1059=) c.3183A>T (p.Val1061=) | |
| 8 | g.115414704T>C | CA462658438 | TRPS1 | c.3204A>G (p.Val1068=) c.3165A>G (p.Val1055=) c.538A>G c.2427A>G (p.Val809=) c.3177A>G (p.Val1059=) c.3183A>G (p.Val1061=) | |
| 8 | g.115414704T>G | CA462658439 | TRPS1 | c.3204A>C (p.Val1068=) c.3165A>C (p.Val1055=) c.538A>C c.2427A>C (p.Val809=) c.3177A>C (p.Val1059=) c.3183A>C (p.Val1061=) | |
| 8 | g.115414704T= | CA1812854124 | TRPS1 | c.3204A= (p.Val1068=) c.3165A= (p.Val1055=) c.538A= c.2427A= (p.Val809=) c.3177A= (p.Val1059=) c.3183A= (p.Val1061=) | |
| 8 | g.115414705A>C | CA372063282 | TRPS1 | c.3203T>G (p.Val1068Gly) c.3164T>G (p.Val1055Gly) c.537T>G c.2426T>G (p.Val809Gly) c.3176T>G (p.Val1059Gly) c.3182T>G (p.Val1061Gly) | |
| 8 | g.115414705A>G | CA372063284 | TRPS1 | c.3203T>C (p.Val1068Ala) c.3164T>C (p.Val1055Ala) c.537T>C c.2426T>C (p.Val809Ala) c.3176T>C (p.Val1059Ala) c.3182T>C (p.Val1061Ala) | |
| 8 | g.115414705A>T | CA372063283 | TRPS1 | c.3203T>A (p.Val1068Glu) c.3164T>A (p.Val1055Glu) c.537T>A c.2426T>A (p.Val809Glu) c.3176T>A (p.Val1059Glu) c.3182T>A (p.Val1061Glu) | |
| 8 | g.115414705dup | CA1139660737 | TRPS1 | c.3203dup (p.Ser1069IlefsTer2) c.3164dup (p.Ser1056IlefsTer2) c.537dup c.2426dup (p.Ser810IlefsTer2) c.3176dup (p.Ser1060IlefsTer2) c.3182dup (p.Ser1062IlefsTer2) | ClinVar dbSNP |
| 8 | g.115414706C>A | CA372063285 | TRPS1 | c.3202G>T (p.Val1068Leu) c.3163G>T (p.Val1055Leu) c.536G>T c.2425G>T (p.Val809Leu) c.3175G>T (p.Val1059Leu) c.3181G>T (p.Val1061Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414706C= | CA1812854132 | TRPS1 | c.3202G= (p.Val1068=) c.3163G= (p.Val1055=) c.536G= c.2425G= (p.Val809=) c.3175G= (p.Val1059=) c.3181G= (p.Val1061=) | |
| 8 | g.115414706C>G | CA372063286 | TRPS1 | c.3202G>C (p.Val1068Leu) c.3163G>C (p.Val1055Leu) c.536G>C c.2425G>C (p.Val809Leu) c.3175G>C (p.Val1059Leu) c.3181G>C (p.Val1061Leu) | gnomAD v4 |
| 8 | g.115414706C>T | CA4851512 | TRPS1 | c.3202G>A (p.Val1068Ile) c.3163G>A (p.Val1055Ile) c.536G>A c.2425G>A (p.Val809Ile) c.3175G>A (p.Val1059Ile) c.3181G>A (p.Val1061Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414707G>A | CA462658443 | TRPS1 | c.3201C>T (p.Ser1067=) c.3162C>T (p.Ser1054=) c.535C>T c.2424C>T (p.Ser808=) c.3174C>T (p.Ser1058=) c.3180C>T (p.Ser1060=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414707G>C | CA462658444 | TRPS1 | c.3201C>G (p.Ser1067=) c.3162C>G (p.Ser1054=) c.535C>G c.2424C>G (p.Ser808=) c.3174C>G (p.Ser1058=) c.3180C>G (p.Ser1060=) | gnomAD v4 |
| 8 | g.115414707G= | CA1812854140 | TRPS1 | c.3201C= (p.Ser1067=) c.3162C= (p.Ser1054=) c.535C= c.2424C= (p.Ser808=) c.3174C= (p.Ser1058=) c.3180C= (p.Ser1060=) | |
| 8 | g.115414707G>T | CA462658445 | TRPS1 | c.3201C>A (p.Ser1067=) c.3162C>A (p.Ser1054=) c.535C>A c.2424C>A (p.Ser808=) c.3174C>A (p.Ser1058=) c.3180C>A (p.Ser1060=) |