| 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.115414349_115414352dup | CA2580078538 | TRPS1 | c.3556_3559dup (p.Gly1187AlafsTer22) c.3517_3520dup (p.Gly1174AlafsTer22) c.2779_2782dup (p.Gly928AlafsTer22) c.3529_3532dup (p.Gly1178AlafsTer22) c.3535_3538dup (p.Gly1180AlafsTer22) | ClinVar |
| 8 | g.115414350A>C | CA462658354 | TRPS1 | c.3558T>G (p.Pro1186=) c.3519T>G (p.Pro1173=) c.2781T>G (p.Pro927=) c.3531T>G (p.Pro1177=) c.3537T>G (p.Pro1179=) | |
| 8 | g.115414350A>G | CA462658352 | TRPS1 | c.3558T>C (p.Pro1186=) c.3519T>C (p.Pro1173=) c.2781T>C (p.Pro927=) c.3531T>C (p.Pro1177=) c.3537T>C (p.Pro1179=) | |
| 8 | g.115414350A>T | CA462658351 | TRPS1 | c.3558T>A (p.Pro1186=) c.3519T>A (p.Pro1173=) c.2781T>A (p.Pro927=) c.3531T>A (p.Pro1177=) c.3537T>A (p.Pro1179=) | |
| 8 | g.115414351G>A | CA372062493 | TRPS1 | c.3557C>T (p.Pro1186Leu) c.3518C>T (p.Pro1173Leu) c.2780C>T (p.Pro927Leu) c.3530C>T (p.Pro1177Leu) c.3536C>T (p.Pro1179Leu) | |
| 8 | g.115414351G>C | CA372062492 | TRPS1 | c.3557C>G (p.Pro1186Arg) c.3518C>G (p.Pro1173Arg) c.2780C>G (p.Pro927Arg) c.3530C>G (p.Pro1177Arg) c.3536C>G (p.Pro1179Arg) | gnomAD v4 |
| 8 | g.115414351G>T | CA372062494 | TRPS1 | c.3557C>A (p.Pro1186His) c.3518C>A (p.Pro1173His) c.2780C>A (p.Pro927His) c.3530C>A (p.Pro1177His) c.3536C>A (p.Pro1179His) | |
| 8 | g.115414352G>A | CA372062495 | TRPS1 | c.3556C>T (p.Pro1186Ser) c.3517C>T (p.Pro1173Ser) c.2779C>T (p.Pro927Ser) c.3529C>T (p.Pro1177Ser) c.3535C>T (p.Pro1179Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414352G>C | CA372062496 | TRPS1 | c.3556C>G (p.Pro1186Ala) c.3517C>G (p.Pro1173Ala) c.2779C>G (p.Pro927Ala) c.3529C>G (p.Pro1177Ala) c.3535C>G (p.Pro1179Ala) | |
| 8 | g.115414352G= | CA1812853755 | TRPS1 | c.3556C= (p.Pro1186=) c.3517C= (p.Pro1173=) c.2779C= (p.Pro927=) c.3529C= (p.Pro1177=) c.3535C= (p.Pro1179=) | |
| 8 | g.115414352G>T | CA372062497 | TRPS1 | c.3556C>A (p.Pro1186Thr) c.3517C>A (p.Pro1173Thr) c.2779C>A (p.Pro927Thr) c.3529C>A (p.Pro1177Thr) c.3535C>A (p.Pro1179Thr) | |
| 8 | g.115414353T>A | CA372062498 | TRPS1 | c.3555A>T (p.Arg1185Ser) c.3516A>T (p.Arg1172Ser) c.2778A>T (p.Arg926Ser) c.3528A>T (p.Arg1176Ser) c.3534A>T (p.Arg1178Ser) | |
| 8 | g.115414353T>C | CA4851473 | TRPS1 | c.3555A>G (p.Arg1185=) c.3516A>G (p.Arg1172=) c.2778A>G (p.Arg926=) c.3528A>G (p.Arg1176=) c.3534A>G (p.Arg1178=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414353T>G | CA372062499 | TRPS1 | c.3555A>C (p.Arg1185Ser) c.3516A>C (p.Arg1172Ser) c.2778A>C (p.Arg926Ser) c.3528A>C (p.Arg1176Ser) c.3534A>C (p.Arg1178Ser) | |
| 8 | g.115414353T= | CA1812853756 | TRPS1 | c.3555A= (p.Arg1185=) c.3516A= (p.Arg1172=) c.2778A= (p.Arg926=) c.3528A= (p.Arg1176=) c.3534A= (p.Arg1178=) | |
| 8 | g.115414354C>A | CA372062502 | TRPS1 | c.3554G>T (p.Arg1185Ile) c.3515G>T (p.Arg1172Ile) c.2777G>T (p.Arg926Ile) c.3527G>T (p.Arg1176Ile) c.3533G>T (p.Arg1178Ile) | COSMIC COSMIC |
| 8 | g.115414354C>G | CA372062500 | TRPS1 | c.3554G>C (p.Arg1185Thr) c.3515G>C (p.Arg1172Thr) c.2777G>C (p.Arg926Thr) c.3527G>C (p.Arg1176Thr) c.3533G>C (p.Arg1178Thr) | |
| 8 | g.115414354C>T | CA372062501 | TRPS1 | c.3554G>A (p.Arg1185Lys) c.3515G>A (p.Arg1172Lys) c.2777G>A (p.Arg926Lys) c.3527G>A (p.Arg1176Lys) c.3533G>A (p.Arg1178Lys) | |
| 8 | g.115414355T>A | CA372062503 | TRPS1 | c.3553A>T (p.Arg1185Ter) c.3514A>T (p.Arg1172Ter) c.2776A>T (p.Arg926Ter) c.3526A>T (p.Arg1176Ter) c.3532A>T (p.Arg1178Ter) | |
| 8 | g.115414355T>C | CA372062504 | TRPS1 | c.3553A>G (p.Arg1185Gly) c.3514A>G (p.Arg1172Gly) c.2776A>G (p.Arg926Gly) c.3526A>G (p.Arg1176Gly) c.3532A>G (p.Arg1178Gly) | |
| 8 | g.115414355T>G | CA462658358 | TRPS1 | c.3553A>C (p.Arg1185=) c.3514A>C (p.Arg1172=) c.2776A>C (p.Arg926=) c.3526A>C (p.Arg1176=) c.3532A>C (p.Arg1178=) | |
| 8 | g.115414356G>A | CA462658360 | TRPS1 | c.3552C>T (p.Ser1184=) c.3513C>T (p.Ser1171=) c.2775C>T (p.Ser925=) c.3525C>T (p.Ser1175=) c.3531C>T (p.Ser1177=) | |
| 8 | g.115414356G>C | CA462658361 | TRPS1 | c.3552C>G (p.Ser1184=) c.3513C>G (p.Ser1171=) c.2775C>G (p.Ser925=) c.3525C>G (p.Ser1175=) c.3531C>G (p.Ser1177=) | |
| 8 | g.115414356G>T | CA462658362 | TRPS1 | c.3552C>A (p.Ser1184=) c.3513C>A (p.Ser1171=) c.2775C>A (p.Ser925=) c.3525C>A (p.Ser1175=) c.3531C>A (p.Ser1177=) | |
| 8 | g.115414357G>A | CA372062505 | TRPS1 | c.3551C>T (p.Ser1184Phe) c.3512C>T (p.Ser1171Phe) c.2774C>T (p.Ser925Phe) c.3524C>T (p.Ser1175Phe) c.3530C>T (p.Ser1177Phe) | gnomAD v4 |
| 8 | g.115414357G>C | CA372062506 | TRPS1 | c.3551C>G (p.Ser1184Cys) c.3512C>G (p.Ser1171Cys) c.2774C>G (p.Ser925Cys) c.3524C>G (p.Ser1175Cys) c.3530C>G (p.Ser1177Cys) | |
| 8 | g.115414357G>T | CA372062507 | TRPS1 | c.3551C>A (p.Ser1184Tyr) c.3512C>A (p.Ser1171Tyr) c.2774C>A (p.Ser925Tyr) c.3524C>A (p.Ser1175Tyr) c.3530C>A (p.Ser1177Tyr) | |
| 8 | g.115414358A>C | CA372062510 | TRPS1 | c.3550T>G (p.Ser1184Ala) c.3511T>G (p.Ser1171Ala) c.2773T>G (p.Ser925Ala) c.3523T>G (p.Ser1175Ala) c.3529T>G (p.Ser1177Ala) | |
| 8 | g.115414358A>G | CA372062508 | TRPS1 | c.3550T>C (p.Ser1184Pro) c.3511T>C (p.Ser1171Pro) c.2773T>C (p.Ser925Pro) c.3523T>C (p.Ser1175Pro) c.3529T>C (p.Ser1177Pro) | |
| 8 | g.115414358A>T | CA372062509 | TRPS1 | c.3550T>A (p.Ser1184Thr) c.3511T>A (p.Ser1171Thr) c.2773T>A (p.Ser925Thr) c.3523T>A (p.Ser1175Thr) c.3529T>A (p.Ser1177Thr) | |
| 8 | g.115414359A>C | CA372062511 | TRPS1 | c.3549T>G (p.His1183Gln) c.3510T>G (p.His1170Gln) c.2772T>G (p.His924Gln) c.3522T>G (p.His1174Gln) c.3528T>G (p.His1176Gln) | |
| 8 | g.115414359A>G | CA462658364 | TRPS1 | c.3549T>C (p.His1183=) c.3510T>C (p.His1170=) c.2772T>C (p.His924=) c.3522T>C (p.His1174=) c.3528T>C (p.His1176=) | |
| 8 | g.115414359A>T | CA372062512 | TRPS1 | c.3549T>A (p.His1183Gln) c.3510T>A (p.His1170Gln) c.2772T>A (p.His924Gln) c.3522T>A (p.His1174Gln) c.3528T>A (p.His1176Gln) | |
| 8 | g.115414360T>A | CA372062513 | TRPS1 | c.3548A>T (p.His1183Leu) c.3509A>T (p.His1170Leu) c.2771A>T (p.His924Leu) c.3521A>T (p.His1174Leu) c.3527A>T (p.His1176Leu) | |
| 8 | g.115414360T>C | CA372062514 | TRPS1 | c.3548A>G (p.His1183Arg) c.3509A>G (p.His1170Arg) c.2771A>G (p.His924Arg) c.3521A>G (p.His1174Arg) c.3527A>G (p.His1176Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414360T>G | CA372062515 | TRPS1 | c.3548A>C (p.His1183Pro) c.3509A>C (p.His1170Pro) c.2771A>C (p.His924Pro) c.3521A>C (p.His1174Pro) c.3527A>C (p.His1176Pro) | dbSNP |
| 8 | g.115414360T= | CA1812853757 | TRPS1 | c.3548A= (p.His1183=) c.3509A= (p.His1170=) c.2771A= (p.His924=) c.3521A= (p.His1174=) c.3527A= (p.His1176=) | |
| 8 | g.115414361G>A | CA372062516 | TRPS1 | c.3547C>T (p.His1183Tyr) c.3508C>T (p.His1170Tyr) c.2770C>T (p.His924Tyr) c.3520C>T (p.His1174Tyr) c.3526C>T (p.His1176Tyr) | |
| 8 | g.115414361G>C | CA372062517 | TRPS1 | c.3547C>G (p.His1183Asp) c.3508C>G (p.His1170Asp) c.2770C>G (p.His924Asp) c.3520C>G (p.His1174Asp) c.3526C>G (p.His1176Asp) | |
| 8 | g.115414361G>T | CA372062518 | TRPS1 | c.3547C>A (p.His1183Asn) c.3508C>A (p.His1170Asn) c.2770C>A (p.His924Asn) c.3520C>A (p.His1174Asn) c.3526C>A (p.His1176Asn) | |
| 8 | g.115414362C>A | CA372062519 | TRPS1 | c.3546G>T (p.Lys1182Asn) c.3507G>T (p.Lys1169Asn) c.2769G>T (p.Lys923Asn) c.3519G>T (p.Lys1173Asn) c.3525G>T (p.Lys1175Asn) | |
| 8 | g.115414362C>G | CA372062520 | TRPS1 | c.3546G>C (p.Lys1182Asn) c.3507G>C (p.Lys1169Asn) c.2769G>C (p.Lys923Asn) c.3519G>C (p.Lys1173Asn) c.3525G>C (p.Lys1175Asn) | |
| 8 | g.115414362C>T | CA462658367 | TRPS1 | c.3546G>A (p.Lys1182=) c.3507G>A (p.Lys1169=) c.2769G>A (p.Lys923=) c.3519G>A (p.Lys1173=) c.3525G>A (p.Lys1175=) | |
| 8 | g.115414363T>A | CA372062521 | TRPS1 | c.3545A>T (p.Lys1182Met) c.3506A>T (p.Lys1169Met) c.2768A>T (p.Lys923Met) c.3518A>T (p.Lys1173Met) c.3524A>T (p.Lys1175Met) | |
| 8 | g.115414363T>C | CA372062522 | TRPS1 | c.3545A>G (p.Lys1182Arg) c.3506A>G (p.Lys1169Arg) c.2768A>G (p.Lys923Arg) c.3518A>G (p.Lys1173Arg) c.3524A>G (p.Lys1175Arg) | dbSNP |
| 8 | g.115414363T>G | CA372062523 | TRPS1 | c.3545A>C (p.Lys1182Thr) c.3506A>C (p.Lys1169Thr) c.2768A>C (p.Lys923Thr) c.3518A>C (p.Lys1173Thr) c.3524A>C (p.Lys1175Thr) | |
| 8 | g.115414363T= | CA1812853758 | TRPS1 | c.3545A= (p.Lys1182=) c.3506A= (p.Lys1169=) c.2768A= (p.Lys923=) c.3518A= (p.Lys1173=) c.3524A= (p.Lys1175=) | |
| 8 | g.115414364T>A | CA372062524 | TRPS1 | c.3544A>T (p.Lys1182Ter) c.3505A>T (p.Lys1169Ter) c.2767A>T (p.Lys923Ter) c.3517A>T (p.Lys1173Ter) c.3523A>T (p.Lys1175Ter) | |
| 8 | g.115414364T>C | CA184469420 | TRPS1 | c.3544A>G (p.Lys1182Glu) c.3505A>G (p.Lys1169Glu) c.2767A>G (p.Lys923Glu) c.3517A>G (p.Lys1173Glu) c.3523A>G (p.Lys1175Glu) | dbSNP gnomAD v4 |
| 8 | g.115414364T>G | CA372062525 | TRPS1 | c.3544A>C (p.Lys1182Gln) c.3505A>C (p.Lys1169Gln) c.2767A>C (p.Lys923Gln) c.3517A>C (p.Lys1173Gln) c.3523A>C (p.Lys1175Gln) | |
| 8 | g.115414364T= | CA1812853759 | TRPS1 | c.3544A= (p.Lys1182=) c.3505A= (p.Lys1169=) c.2767A= (p.Lys923=) c.3517A= (p.Lys1173=) c.3523A= (p.Lys1175=) | |
| 8 | g.115414365G>A | CA462658370 | TRPS1 | c.3543C>T (p.Ile1181=) c.3504C>T (p.Ile1168=) c.2766C>T (p.Ile922=) c.3516C>T (p.Ile1172=) c.3522C>T (p.Ile1174=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414365G>C | CA372062526 | TRPS1 | c.3543C>G (p.Ile1181Met) c.3504C>G (p.Ile1168Met) c.2766C>G (p.Ile922Met) c.3516C>G (p.Ile1172Met) c.3522C>G (p.Ile1174Met) | dbSNP gnomAD v4 |
| 8 | g.115414365G= | CA1812853760 | TRPS1 | c.3543C= (p.Ile1181=) c.3504C= (p.Ile1168=) c.2766C= (p.Ile922=) c.3516C= (p.Ile1172=) c.3522C= (p.Ile1174=) | |
| 8 | g.115414365G>T | CA462658372 | TRPS1 | c.3543C>A (p.Ile1181=) c.3504C>A (p.Ile1168=) c.2766C>A (p.Ile922=) c.3516C>A (p.Ile1172=) c.3522C>A (p.Ile1174=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414366A>C | CA372062527 | TRPS1 | c.3542T>G (p.Ile1181Ser) c.3503T>G (p.Ile1168Ser) c.2765T>G (p.Ile922Ser) c.3515T>G (p.Ile1172Ser) c.3521T>G (p.Ile1174Ser) | |
| 8 | g.115414366A>G | CA372062528 | TRPS1 | c.3542T>C (p.Ile1181Thr) c.3503T>C (p.Ile1168Thr) c.2765T>C (p.Ile922Thr) c.3515T>C (p.Ile1172Thr) c.3521T>C (p.Ile1174Thr) | |
| 8 | g.115414366A>T | CA372062529 | TRPS1 | c.3542T>A (p.Ile1181Asn) c.3503T>A (p.Ile1168Asn) c.2765T>A (p.Ile922Asn) c.3515T>A (p.Ile1172Asn) c.3521T>A (p.Ile1174Asn) | |
| 8 | g.115414367T>A | CA372062530 | TRPS1 | c.3541A>T (p.Ile1181Phe) c.3502A>T (p.Ile1168Phe) c.2764A>T (p.Ile922Phe) c.3514A>T (p.Ile1172Phe) c.3520A>T (p.Ile1174Phe) | |
| 8 | g.115414367T>C | CA372062531 | TRPS1 | c.3541A>G (p.Ile1181Val) c.3502A>G (p.Ile1168Val) c.2764A>G (p.Ile922Val) c.3514A>G (p.Ile1172Val) c.3520A>G (p.Ile1174Val) | gnomAD v4 |
| 8 | g.115414367T>G | CA372062532 | TRPS1 | c.3541A>C (p.Ile1181Leu) c.3502A>C (p.Ile1168Leu) c.2764A>C (p.Ile922Leu) c.3514A>C (p.Ile1172Leu) c.3520A>C (p.Ile1174Leu) | |
| 8 | g.115414368C>A | CA462658373 | TRPS1 | c.3540G>T (p.Ala1180=) c.3501G>T (p.Ala1167=) c.2763G>T (p.Ala921=) c.3513G>T (p.Ala1171=) c.3519G>T (p.Ala1173=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 8 | g.115414368C= | CA1812853761 | TRPS1 | c.3540G= (p.Ala1180=) c.3501G= (p.Ala1167=) c.2763G= (p.Ala921=) c.3513G= (p.Ala1171=) c.3519G= (p.Ala1173=) | |
| 8 | g.115414368C>G | CA4851474 | TRPS1 | c.3540G>C (p.Ala1180=) c.3501G>C (p.Ala1167=) c.2763G>C (p.Ala921=) c.3513G>C (p.Ala1171=) c.3519G>C (p.Ala1173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414368C>T | CA184469432 | TRPS1 | c.3540G>A (p.Ala1180=) c.3501G>A (p.Ala1167=) c.2763G>A (p.Ala921=) c.3513G>A (p.Ala1171=) c.3519G>A (p.Ala1173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414369G>A | CA372062533 | TRPS1 | c.3539C>T (p.Ala1180Val) c.3500C>T (p.Ala1167Val) c.2762C>T (p.Ala921Val) c.3512C>T (p.Ala1171Val) c.3518C>T (p.Ala1173Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414369G>C | CA372062534 | TRPS1 | c.3539C>G (p.Ala1180Gly) c.3500C>G (p.Ala1167Gly) c.2762C>G (p.Ala921Gly) c.3512C>G (p.Ala1171Gly) c.3518C>G (p.Ala1173Gly) | |
| 8 | g.115414369G= | CA1812853762 | TRPS1 | c.3539C= (p.Ala1180=) c.3500C= (p.Ala1167=) c.2762C= (p.Ala921=) c.3512C= (p.Ala1171=) c.3518C= (p.Ala1173=) | |
| 8 | g.115414369G>T | CA372062535 | TRPS1 | c.3539C>A (p.Ala1180Glu) c.3500C>A (p.Ala1167Glu) c.2762C>A (p.Ala921Glu) c.3512C>A (p.Ala1171Glu) c.3518C>A (p.Ala1173Glu) | |
| 8 | g.115414370C>A | CA372062538 | TRPS1 | c.3538G>T (p.Ala1180Ser) c.3499G>T (p.Ala1167Ser) c.2761G>T (p.Ala921Ser) c.3511G>T (p.Ala1171Ser) c.3517G>T (p.Ala1173Ser) | |
| 8 | g.115414370C>G | CA372062537 | TRPS1 | c.3538G>C (p.Ala1180Pro) c.3499G>C (p.Ala1167Pro) c.2761G>C (p.Ala921Pro) c.3511G>C (p.Ala1171Pro) c.3517G>C (p.Ala1173Pro) | |
| 8 | g.115414370C>T | CA372062536 | TRPS1 | c.3538G>A (p.Ala1180Thr) c.3499G>A (p.Ala1167Thr) c.2761G>A (p.Ala921Thr) c.3511G>A (p.Ala1171Thr) c.3517G>A (p.Ala1173Thr) | |
| 8 | g.115414371C>A | CA372062539 | TRPS1 | c.3537G>T (p.Leu1179Phe) c.3498G>T (p.Leu1166Phe) c.2760G>T (p.Leu920Phe) c.3510G>T (p.Leu1170Phe) c.3516G>T (p.Leu1172Phe) | |
| 8 | g.115414371C>G | CA372062540 | TRPS1 | c.3537G>C (p.Leu1179Phe) c.3498G>C (p.Leu1166Phe) c.2760G>C (p.Leu920Phe) c.3510G>C (p.Leu1170Phe) c.3516G>C (p.Leu1172Phe) | |
| 8 | g.115414371C>T | CA462658376 | TRPS1 | c.3537G>A (p.Leu1179=) c.3498G>A (p.Leu1166=) c.2760G>A (p.Leu920=) c.3510G>A (p.Leu1170=) c.3516G>A (p.Leu1172=) | |
| 8 | g.115414372A>C | CA372062541 | TRPS1 | c.3536T>G (p.Leu1179Trp) c.3497T>G (p.Leu1166Trp) c.2759T>G (p.Leu920Trp) c.3509T>G (p.Leu1170Trp) c.3515T>G (p.Leu1172Trp) | |
| 8 | g.115414372A>G | CA372062542 | TRPS1 | c.3536T>C (p.Leu1179Ser) c.3497T>C (p.Leu1166Ser) c.2759T>C (p.Leu920Ser) c.3509T>C (p.Leu1170Ser) c.3515T>C (p.Leu1172Ser) | |
| 8 | g.115414372A>T | CA372062543 | TRPS1 | c.3536T>A (p.Leu1179Ter) c.3497T>A (p.Leu1166Ter) c.2759T>A (p.Leu920Ter) c.3509T>A (p.Leu1170Ter) c.3515T>A (p.Leu1172Ter) | |
| 8 | g.115414373A>C | CA372062544 | TRPS1 | c.3535T>G (p.Leu1179Val) c.3496T>G (p.Leu1166Val) c.2758T>G (p.Leu920Val) c.3508T>G (p.Leu1170Val) c.3514T>G (p.Leu1172Val) | |
| 8 | g.115414373A>G | CA462658377 | TRPS1 | c.3535T>C (p.Leu1179=) c.3496T>C (p.Leu1166=) c.2758T>C (p.Leu920=) c.3508T>C (p.Leu1170=) c.3514T>C (p.Leu1172=) | |
| 8 | g.115414373A>T | CA372062545 | TRPS1 | c.3535T>A (p.Leu1179Met) c.3496T>A (p.Leu1166Met) c.2758T>A (p.Leu920Met) c.3508T>A (p.Leu1170Met) c.3514T>A (p.Leu1172Met) | |
| 8 | g.115414374A>C | CA372062546 | TRPS1 | c.3534T>G (p.Asp1178Glu) c.3495T>G (p.Asp1165Glu) c.2757T>G (p.Asp919Glu) c.3507T>G (p.Asp1169Glu) c.3513T>G (p.Asp1171Glu) | |
| 8 | g.115414374A>G | CA462658379 | TRPS1 | c.3534T>C (p.Asp1178=) c.3495T>C (p.Asp1165=) c.2757T>C (p.Asp919=) c.3507T>C (p.Asp1169=) c.3513T>C (p.Asp1171=) | |
| 8 | g.115414374A>T | CA372062547 | TRPS1 | c.3534T>A (p.Asp1178Glu) c.3495T>A (p.Asp1165Glu) c.2757T>A (p.Asp919Glu) c.3507T>A (p.Asp1169Glu) c.3513T>A (p.Asp1171Glu) | |
| 8 | g.115414375T>A | CA372062548 | TRPS1 | c.3533A>T (p.Asp1178Val) c.3494A>T (p.Asp1165Val) c.2756A>T (p.Asp919Val) c.3506A>T (p.Asp1169Val) c.3512A>T (p.Asp1171Val) | |
| 8 | g.115414375T>C | CA372062549 | TRPS1 | c.3533A>G (p.Asp1178Gly) c.3494A>G (p.Asp1165Gly) c.2756A>G (p.Asp919Gly) c.3506A>G (p.Asp1169Gly) c.3512A>G (p.Asp1171Gly) | |
| 8 | g.115414375T>G | CA372062550 | TRPS1 | c.3533A>C (p.Asp1178Ala) c.3494A>C (p.Asp1165Ala) c.2756A>C (p.Asp919Ala) c.3506A>C (p.Asp1169Ala) c.3512A>C (p.Asp1171Ala) | |
| 8 | g.115414376C>A | CA372062553 | TRPS1 | c.3532G>T (p.Asp1178Tyr) c.3493G>T (p.Asp1165Tyr) c.2755G>T (p.Asp919Tyr) c.3505G>T (p.Asp1169Tyr) c.3511G>T (p.Asp1171Tyr) | |
| 8 | g.115414376C>G | CA372062552 | TRPS1 | c.3532G>C (p.Asp1178His) c.3493G>C (p.Asp1165His) c.2755G>C (p.Asp919His) c.3505G>C (p.Asp1169His) c.3511G>C (p.Asp1171His) | COSMIC COSMIC |
| 8 | g.115414376C>T | CA372062551 | TRPS1 | c.3532G>A (p.Asp1178Asn) c.3493G>A (p.Asp1165Asn) c.2755G>A (p.Asp919Asn) c.3505G>A (p.Asp1169Asn) c.3511G>A (p.Asp1171Asn) | |
| 8 | g.115414377T>A | CA462658381 | TRPS1 | c.3531A>T (p.Leu1177=) c.3492A>T (p.Leu1164=) c.2754A>T (p.Leu918=) c.3504A>T (p.Leu1168=) c.3510A>T (p.Leu1170=) | |
| 8 | g.115414377T>C | CA462658382 | TRPS1 | c.3531A>G (p.Leu1177=) c.3492A>G (p.Leu1164=) c.2754A>G (p.Leu918=) c.3504A>G (p.Leu1168=) c.3510A>G (p.Leu1170=) | |
| 8 | g.115414377T>G | CA462658383 | TRPS1 | c.3531A>C (p.Leu1177=) c.3492A>C (p.Leu1164=) c.2754A>C (p.Leu918=) c.3504A>C (p.Leu1168=) c.3510A>C (p.Leu1170=) | |
| 8 | g.115414378A>C | CA372062554 | TRPS1 | c.3530T>G (p.Leu1177Arg) c.3491T>G (p.Leu1164Arg) c.2753T>G (p.Leu918Arg) c.3503T>G (p.Leu1168Arg) c.3509T>G (p.Leu1170Arg) | |
| 8 | g.115414378A>G | CA372062556 | TRPS1 | c.3530T>C (p.Leu1177Pro) c.3491T>C (p.Leu1164Pro) c.2753T>C (p.Leu918Pro) c.3503T>C (p.Leu1168Pro) c.3509T>C (p.Leu1170Pro) | |
| 8 | g.115414378A>T | CA372062555 | TRPS1 | c.3530T>A (p.Leu1177Gln) c.3491T>A (p.Leu1164Gln) c.2753T>A (p.Leu918Gln) c.3503T>A (p.Leu1168Gln) c.3509T>A (p.Leu1170Gln) | |
| 8 | g.115414379G>A | CA462658385 | TRPS1 | c.3529C>T (p.Leu1177=) c.3490C>T (p.Leu1164=) c.2752C>T (p.Leu918=) c.3502C>T (p.Leu1168=) c.3508C>T (p.Leu1170=) | |
| 8 | g.115414379G>C | CA372062557 | TRPS1 | c.3529C>G (p.Leu1177Val) c.3490C>G (p.Leu1164Val) c.2752C>G (p.Leu918Val) c.3502C>G (p.Leu1168Val) c.3508C>G (p.Leu1170Val) | COSMIC COSMIC |
| 8 | g.115414379G>T | CA372062558 | TRPS1 | c.3529C>A (p.Leu1177Ile) c.3490C>A (p.Leu1164Ile) c.2752C>A (p.Leu918Ile) c.3502C>A (p.Leu1168Ile) c.3508C>A (p.Leu1170Ile) | |
| 8 | g.115414380A= | CA1812853763 | TRPS1 | c.3528T= (p.Pro1176=) c.3489T= (p.Pro1163=) c.2751T= (p.Pro917=) c.3501T= (p.Pro1167=) c.3507T= (p.Pro1169=) | |
| 8 | g.115414380A>C | CA462658386 | TRPS1 | c.3528T>G (p.Pro1176=) c.3489T>G (p.Pro1163=) c.2751T>G (p.Pro917=) c.3501T>G (p.Pro1167=) c.3507T>G (p.Pro1169=) | |
| 8 | g.115414380A>G | CA462658387 | TRPS1 | c.3528T>C (p.Pro1176=) c.3489T>C (p.Pro1163=) c.2751T>C (p.Pro917=) c.3501T>C (p.Pro1167=) c.3507T>C (p.Pro1169=) | |
| 8 | g.115414380A>T | CA462658388 | TRPS1 | c.3528T>A (p.Pro1176=) c.3489T>A (p.Pro1163=) c.2751T>A (p.Pro917=) c.3501T>A (p.Pro1167=) c.3507T>A (p.Pro1169=) | gnomAD v4 |
| 8 | g.115414381G>A | CA372062559 | TRPS1 | c.3527C>T (p.Pro1176Leu) c.3488C>T (p.Pro1163Leu) c.2750C>T (p.Pro917Leu) c.3500C>T (p.Pro1167Leu) c.3506C>T (p.Pro1169Leu) | gnomAD v4 |
| 8 | g.115414381G>C | CA372062560 | TRPS1 | c.3527C>G (p.Pro1176Arg) c.3488C>G (p.Pro1163Arg) c.2750C>G (p.Pro917Arg) c.3500C>G (p.Pro1167Arg) c.3506C>G (p.Pro1169Arg) | |
| 8 | g.115414381G>T | CA372062561 | TRPS1 | c.3527C>A (p.Pro1176His) c.3488C>A (p.Pro1163His) c.2750C>A (p.Pro917His) c.3500C>A (p.Pro1167His) c.3506C>A (p.Pro1169His) | |
| 8 | g.115414382dup | CA1139660735 | TRPS1 | c.3527dup (p.Leu1177SerfsTer?) c.3488dup (p.Leu1164SerfsTer?) c.2750dup (p.Leu918SerfsTer?) c.3500dup (p.Leu1168SerfsTer?) c.3506dup (p.Leu1170SerfsTer?) | ClinVar dbSNP |
| 8 | g.115414382G>A | CA372062562 | TRPS1 | c.3526C>T (p.Pro1176Ser) c.3487C>T (p.Pro1163Ser) c.2749C>T (p.Pro917Ser) c.3499C>T (p.Pro1167Ser) c.3505C>T (p.Pro1169Ser) | |
| 8 | g.115414382G>C | CA372062563 | TRPS1 | c.3526C>G (p.Pro1176Ala) c.3487C>G (p.Pro1163Ala) c.2749C>G (p.Pro917Ala) c.3499C>G (p.Pro1167Ala) c.3505C>G (p.Pro1169Ala) | |
| 8 | g.115414382G>T | CA372062564 | TRPS1 | c.3526C>A (p.Pro1176Thr) c.3487C>A (p.Pro1163Thr) c.2749C>A (p.Pro917Thr) c.3499C>A (p.Pro1167Thr) c.3505C>A (p.Pro1169Thr) | |
| 8 | g.115414383A>C | CA372062565 | TRPS1 | c.3525T>G (p.Ile1175Met) c.3486T>G (p.Ile1162Met) c.2748T>G (p.Ile916Met) c.3498T>G (p.Ile1166Met) c.3504T>G (p.Ile1168Met) | |
| 8 | g.115414383A>G | CA462658391 | TRPS1 | c.3525T>C (p.Ile1175=) c.3486T>C (p.Ile1162=) c.2748T>C (p.Ile916=) c.3498T>C (p.Ile1166=) c.3504T>C (p.Ile1168=) | |
| 8 | g.115414383A>T | CA462658392 | TRPS1 | c.3525T>A (p.Ile1175=) c.3486T>A (p.Ile1162=) c.2748T>A (p.Ile916=) c.3498T>A (p.Ile1166=) c.3504T>A (p.Ile1168=) | |
| 8 | g.115414384A>C | CA372062566 | TRPS1 | c.3524T>G (p.Ile1175Ser) c.3485T>G (p.Ile1162Ser) c.2747T>G (p.Ile916Ser) c.3497T>G (p.Ile1166Ser) c.3503T>G (p.Ile1168Ser) | |
| 8 | g.115414384A>G | CA372062567 | TRPS1 | c.3524T>C (p.Ile1175Thr) c.3485T>C (p.Ile1162Thr) c.2747T>C (p.Ile916Thr) c.3497T>C (p.Ile1166Thr) c.3503T>C (p.Ile1168Thr) | |
| 8 | g.115414384A>T | CA372062568 | TRPS1 | c.3524T>A (p.Ile1175Asn) c.3485T>A (p.Ile1162Asn) c.2747T>A (p.Ile916Asn) c.3497T>A (p.Ile1166Asn) c.3503T>A (p.Ile1168Asn) | |
| 8 | g.115414385T>A | CA372062569 | TRPS1 | c.3523A>T (p.Ile1175Phe) c.3484A>T (p.Ile1162Phe) c.2746A>T (p.Ile916Phe) c.3496A>T (p.Ile1166Phe) c.3502A>T (p.Ile1168Phe) | |
| 8 | g.115414385T>C | CA4851475 | TRPS1 | c.3523A>G (p.Ile1175Val) c.3484A>G (p.Ile1162Val) c.2746A>G (p.Ile916Val) c.3496A>G (p.Ile1166Val) c.3502A>G (p.Ile1168Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414385T>G | CA372062570 | TRPS1 | c.3523A>C (p.Ile1175Leu) c.3484A>C (p.Ile1162Leu) c.2746A>C (p.Ile916Leu) c.3496A>C (p.Ile1166Leu) c.3502A>C (p.Ile1168Leu) | |
| 8 | g.115414385T= | CA1812853765 | TRPS1 | c.3523A= (p.Ile1175=) c.3484A= (p.Ile1162=) c.2746A= (p.Ile916=) c.3496A= (p.Ile1166=) c.3502A= (p.Ile1168=) | |
| 8 | g.115414386G>A | CA462658396 | TRPS1 | c.3522C>T (p.Asp1174=) c.3483C>T (p.Asp1161=) c.2745C>T (p.Asp915=) c.3495C>T (p.Asp1165=) c.3501C>T (p.Asp1167=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 8 | g.115414386G>C | CA372062571 | TRPS1 | c.3522C>G (p.Asp1174Glu) c.3483C>G (p.Asp1161Glu) c.2745C>G (p.Asp915Glu) c.3495C>G (p.Asp1165Glu) c.3501C>G (p.Asp1167Glu) | |
| 8 | g.115414386G= | CA1812853769 | TRPS1 | c.3522C= (p.Asp1174=) c.3483C= (p.Asp1161=) c.2745C= (p.Asp915=) c.3495C= (p.Asp1165=) c.3501C= (p.Asp1167=) | |
| 8 | g.115414386G>T | CA372062572 | TRPS1 | c.3522C>A (p.Asp1174Glu) c.3483C>A (p.Asp1161Glu) c.2745C>A (p.Asp915Glu) c.3495C>A (p.Asp1165Glu) c.3501C>A (p.Asp1167Glu) | |
| 8 | g.115414387T>A | CA372062573 | TRPS1 | c.3521A>T (p.Asp1174Val) c.3482A>T (p.Asp1161Val) c.2744A>T (p.Asp915Val) c.3494A>T (p.Asp1165Val) c.3500A>T (p.Asp1167Val) | |
| 8 | g.115414387T>C | CA4851476 | TRPS1 | c.3521A>G (p.Asp1174Gly) c.3482A>G (p.Asp1161Gly) c.2744A>G (p.Asp915Gly) c.3494A>G (p.Asp1165Gly) c.3500A>G (p.Asp1167Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414387T>G | CA372062574 | TRPS1 | c.3521A>C (p.Asp1174Ala) c.3482A>C (p.Asp1161Ala) c.2744A>C (p.Asp915Ala) c.3494A>C (p.Asp1165Ala) c.3500A>C (p.Asp1167Ala) | |
| 8 | g.115414387T= | CA1812853774 | TRPS1 | c.3521A= (p.Asp1174=) c.3482A= (p.Asp1161=) c.2744A= (p.Asp915=) c.3494A= (p.Asp1165=) c.3500A= (p.Asp1167=) | |
| 8 | g.115414388C>A | CA372062575 | TRPS1 | c.3520G>T (p.Asp1174Tyr) c.3481G>T (p.Asp1161Tyr) c.2743G>T (p.Asp915Tyr) c.3493G>T (p.Asp1165Tyr) c.3499G>T (p.Asp1167Tyr) | |
| 8 | g.115414388C>G | CA372062576 | TRPS1 | c.3520G>C (p.Asp1174His) c.3481G>C (p.Asp1161His) c.2743G>C (p.Asp915His) c.3493G>C (p.Asp1165His) c.3499G>C (p.Asp1167His) | |
| 8 | g.115414388C>T | CA372062577 | TRPS1 | c.3520G>A (p.Asp1174Asn) c.3481G>A (p.Asp1161Asn) c.2743G>A (p.Asp915Asn) c.3493G>A (p.Asp1165Asn) c.3499G>A (p.Asp1167Asn) | |
| 8 | g.115414389A>C | CA372062578 | TRPS1 | c.3519T>G (p.Asn1173Lys) c.3480T>G (p.Asn1160Lys) c.2742T>G (p.Asn914Lys) c.3492T>G (p.Asn1164Lys) c.3498T>G (p.Asn1166Lys) | |
| 8 | g.115414389A>G | CA462658398 | TRPS1 | c.3519T>C (p.Asn1173=) c.3480T>C (p.Asn1160=) c.2742T>C (p.Asn914=) c.3492T>C (p.Asn1164=) c.3498T>C (p.Asn1166=) | |
| 8 | g.115414389A>T | CA372062579 | TRPS1 | c.3519T>A (p.Asn1173Lys) c.3480T>A (p.Asn1160Lys) c.2742T>A (p.Asn914Lys) c.3492T>A (p.Asn1164Lys) c.3498T>A (p.Asn1166Lys) | |
| 8 | g.115414390T>A | CA372062581 | TRPS1 | c.3518A>T (p.Asn1173Ile) c.3479A>T (p.Asn1160Ile) c.2741A>T (p.Asn914Ile) c.3491A>T (p.Asn1164Ile) c.3497A>T (p.Asn1166Ile) | |
| 8 | g.115414390T>C | CA372062582 | TRPS1 | c.3518A>G (p.Asn1173Ser) c.3479A>G (p.Asn1160Ser) c.2741A>G (p.Asn914Ser) c.3491A>G (p.Asn1164Ser) c.3497A>G (p.Asn1166Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414390T>G | CA372062580 | TRPS1 | c.3518A>C (p.Asn1173Thr) c.3479A>C (p.Asn1160Thr) c.2741A>C (p.Asn914Thr) c.3491A>C (p.Asn1164Thr) c.3497A>C (p.Asn1166Thr) | |
| 8 | g.115414390T= | CA1812853777 | TRPS1 | c.3518A= (p.Asn1173=) c.3479A= (p.Asn1160=) c.2741A= (p.Asn914=) c.3491A= (p.Asn1164=) c.3497A= (p.Asn1166=) | |
| 8 | g.115414391T>A | CA372062583 | TRPS1 | c.3517A>T (p.Asn1173Tyr) c.3478A>T (p.Asn1160Tyr) c.2740A>T (p.Asn914Tyr) c.3490A>T (p.Asn1164Tyr) c.3496A>T (p.Asn1166Tyr) | |
| 8 | g.115414391T>C | CA372062584 | TRPS1 | c.3517A>G (p.Asn1173Asp) c.3478A>G (p.Asn1160Asp) c.2740A>G (p.Asn914Asp) c.3490A>G (p.Asn1164Asp) c.3496A>G (p.Asn1166Asp) | |
| 8 | g.115414391T>G | CA372062585 | TRPS1 | c.3517A>C (p.Asn1173His) c.3478A>C (p.Asn1160His) c.2740A>C (p.Asn914His) c.3490A>C (p.Asn1164His) c.3496A>C (p.Asn1166His) | |
| 8 | g.115414392G>A | CA462658401 | TRPS1 | c.3516C>T (p.Asp1172=) c.3477C>T (p.Asp1159=) c.2739C>T (p.Asp913=) c.3489C>T (p.Asp1163=) c.3495C>T (p.Asp1165=) | |
| 8 | g.115414392G>C | CA372062586 | TRPS1 | c.3516C>G (p.Asp1172Glu) c.3477C>G (p.Asp1159Glu) c.2739C>G (p.Asp913Glu) c.3489C>G (p.Asp1163Glu) c.3495C>G (p.Asp1165Glu) | |
| 8 | g.115414392G>T | CA372062587 | TRPS1 | c.3516C>A (p.Asp1172Glu) c.3477C>A (p.Asp1159Glu) c.2739C>A (p.Asp913Glu) c.3489C>A (p.Asp1163Glu) c.3495C>A (p.Asp1165Glu) | gnomAD v4 |
| 8 | g.115414393T>A | CA372062588 | TRPS1 | c.3515A>T (p.Asp1172Val) c.3476A>T (p.Asp1159Val) c.2738A>T (p.Asp913Val) c.3488A>T (p.Asp1163Val) c.3494A>T (p.Asp1165Val) | |
| 8 | g.115414393T>C | CA184469452 | TRPS1 | c.3515A>G (p.Asp1172Gly) c.3476A>G (p.Asp1159Gly) c.2738A>G (p.Asp913Gly) c.3488A>G (p.Asp1163Gly) c.3494A>G (p.Asp1165Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414393T>G | CA372062589 | TRPS1 | c.3515A>C (p.Asp1172Ala) c.3476A>C (p.Asp1159Ala) c.2738A>C (p.Asp913Ala) c.3488A>C (p.Asp1163Ala) c.3494A>C (p.Asp1165Ala) | |
| 8 | g.115414393T= | CA1812853781 | TRPS1 | c.3515A= (p.Asp1172=) c.3476A= (p.Asp1159=) c.2738A= (p.Asp913=) c.3488A= (p.Asp1163=) c.3494A= (p.Asp1165=) | |
| 8 | g.115414394C>A | CA372062590 | TRPS1 | c.3514G>T (p.Asp1172Tyr) c.3475G>T (p.Asp1159Tyr) c.2737G>T (p.Asp913Tyr) c.3487G>T (p.Asp1163Tyr) c.3493G>T (p.Asp1165Tyr) | |
| 8 | g.115414394C= | CA1812853789 | TRPS1 | c.3514G= (p.Asp1172=) c.3475G= (p.Asp1159=) c.2737G= (p.Asp913=) c.3487G= (p.Asp1163=) c.3493G= (p.Asp1165=) | |
| 8 | g.115414394C>G | CA10586002 | TRPS1 | c.3514G>C (p.Asp1172His) c.3475G>C (p.Asp1159His) c.2737G>C (p.Asp913His) c.3487G>C (p.Asp1163His) c.3493G>C (p.Asp1165His) | ClinVar dbSNP |
| 8 | g.115414394C>T | CA372062591 | TRPS1 | c.3514G>A (p.Asp1172Asn) c.3475G>A (p.Asp1159Asn) c.2737G>A (p.Asp913Asn) c.3487G>A (p.Asp1163Asn) c.3493G>A (p.Asp1165Asn) | |
| 8 | g.115414395T>A | CA462658404 | TRPS1 | c.3513A>T (p.Ser1171=) c.3474A>T (p.Ser1158=) c.2736A>T (p.Ser912=) c.3486A>T (p.Ser1162=) c.3492A>T (p.Ser1164=) | |
| 8 | g.115414395T>C | CA4851477 | TRPS1 | c.3513A>G (p.Ser1171=) c.3474A>G (p.Ser1158=) c.2736A>G (p.Ser912=) c.3486A>G (p.Ser1162=) c.3492A>G (p.Ser1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414395T>G | CA462658405 | TRPS1 | c.3513A>C (p.Ser1171=) c.3474A>C (p.Ser1158=) c.2736A>C (p.Ser912=) c.3486A>C (p.Ser1162=) c.3492A>C (p.Ser1164=) | |
| 8 | g.115414395T= | CA1812853792 | TRPS1 | c.3513A= (p.Ser1171=) c.3474A= (p.Ser1158=) c.2736A= (p.Ser912=) c.3486A= (p.Ser1162=) c.3492A= (p.Ser1164=) | |
| 8 | g.115414396G>A | CA372062593 | TRPS1 | c.3512C>T (p.Ser1171Leu) c.3473C>T (p.Ser1158Leu) c.2735C>T (p.Ser912Leu) c.3485C>T (p.Ser1162Leu) c.3491C>T (p.Ser1164Leu) | |
| 8 | g.115414396G>C | CA372062594 | TRPS1 | c.3512C>G (p.Ser1171Ter) c.3473C>G (p.Ser1158Ter) c.2735C>G (p.Ser912Ter) c.3485C>G (p.Ser1162Ter) c.3491C>G (p.Ser1164Ter) | |
| 8 | g.115414396G>T | CA372062592 | TRPS1 | c.3512C>A (p.Ser1171Ter) c.3473C>A (p.Ser1158Ter) c.2735C>A (p.Ser912Ter) c.3485C>A (p.Ser1162Ter) c.3491C>A (p.Ser1164Ter) | |
| 8 | g.115414397A>C | CA372062595 | TRPS1 | c.3511T>G (p.Ser1171Ala) c.3472T>G (p.Ser1158Ala) c.2734T>G (p.Ser912Ala) c.3484T>G (p.Ser1162Ala) c.3490T>G (p.Ser1164Ala) | |
| 8 | g.115414397A>G | CA372062596 | TRPS1 | c.3511T>C (p.Ser1171Pro) c.3472T>C (p.Ser1158Pro) c.2734T>C (p.Ser912Pro) c.3484T>C (p.Ser1162Pro) c.3490T>C (p.Ser1164Pro) | |
| 8 | g.115414397A>T | CA372062597 | TRPS1 | c.3511T>A (p.Ser1171Thr) c.3472T>A (p.Ser1158Thr) c.2734T>A (p.Ser912Thr) c.3484T>A (p.Ser1162Thr) c.3490T>A (p.Ser1164Thr) | gnomAD v4 |
| 8 | g.115414398T>A | CA462658406 | TRPS1 | c.3510A>T (p.Gly1170=) c.3471A>T (p.Gly1157=) c.2733A>T (p.Gly911=) c.3483A>T (p.Gly1161=) c.3489A>T (p.Gly1163=) | |
| 8 | g.115414398T>C | CA462658408 | TRPS1 | c.3510A>G (p.Gly1170=) c.3471A>G (p.Gly1157=) c.2733A>G (p.Gly911=) c.3483A>G (p.Gly1161=) c.3489A>G (p.Gly1163=) | |
| 8 | g.115414398T>G | CA4851478 | TRPS1 | c.3510A>C (p.Gly1170=) c.3471A>C (p.Gly1157=) c.2733A>C (p.Gly911=) c.3483A>C (p.Gly1161=) c.3489A>C (p.Gly1163=) | dbSNP ExAC |
| 8 | g.115414398T= | CA1812853794 | TRPS1 | c.3510A= (p.Gly1170=) c.3471A= (p.Gly1157=) c.2733A= (p.Gly911=) c.3483A= (p.Gly1161=) c.3489A= (p.Gly1163=) | |
| 8 | g.115414399C>A | CA4851479 | TRPS1 | c.3509G>T (p.Gly1170Val) c.3470G>T (p.Gly1157Val) c.2732G>T (p.Gly911Val) c.3482G>T (p.Gly1161Val) c.3488G>T (p.Gly1163Val) | dbSNP ExAC gnomAD v4 |
| 8 | g.115414399C= | CA1812853797 | TRPS1 | c.3509G= (p.Gly1170=) c.3470G= (p.Gly1157=) c.2732G= (p.Gly911=) c.3482G= (p.Gly1161=) c.3488G= (p.Gly1163=) | |
| 8 | g.115414399C>G | CA372062598 | TRPS1 | c.3509G>C (p.Gly1170Ala) c.3470G>C (p.Gly1157Ala) c.2732G>C (p.Gly911Ala) c.3482G>C (p.Gly1161Ala) c.3488G>C (p.Gly1163Ala) | |
| 8 | g.115414399C>T | CA184469463 | TRPS1 | c.3509G>A (p.Gly1170Glu) c.3470G>A (p.Gly1157Glu) c.2732G>A (p.Gly911Glu) c.3482G>A (p.Gly1161Glu) c.3488G>A (p.Gly1163Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414400C>A | CA184469464 | TRPS1 | c.3508G>T (p.Gly1170Ter) c.3469G>T (p.Gly1157Ter) c.2731G>T (p.Gly911Ter) c.3481G>T (p.Gly1161Ter) c.3487G>T (p.Gly1163Ter) | dbSNP |
| 8 | g.115414400C= | CA1812853800 | TRPS1 | c.3508G= (p.Gly1170=) c.3469G= (p.Gly1157=) c.2731G= (p.Gly911=) c.3481G= (p.Gly1161=) c.3487G= (p.Gly1163=) | |
| 8 | g.115414400C>G | CA372062599 | TRPS1 | c.3508G>C (p.Gly1170Arg) c.3469G>C (p.Gly1157Arg) c.2731G>C (p.Gly911Arg) c.3481G>C (p.Gly1161Arg) c.3487G>C (p.Gly1163Arg) | |
| 8 | g.115414400C>T | CA372062600 | TRPS1 | c.3508G>A (p.Gly1170Arg) c.3469G>A (p.Gly1157Arg) c.2731G>A (p.Gly911Arg) c.3481G>A (p.Gly1161Arg) c.3487G>A (p.Gly1163Arg) | dbSNP |
| 8 | g.115414401A>C | CA462658411 | TRPS1 | c.3507T>G (p.Val1169=) c.3468T>G (p.Val1156=) c.2730T>G (p.Val910=) c.3480T>G (p.Val1160=) c.3486T>G (p.Val1162=) | |
| 8 | g.115414401A>G | CA462658413 | TRPS1 | c.3507T>C (p.Val1169=) c.3468T>C (p.Val1156=) c.2730T>C (p.Val910=) c.3480T>C (p.Val1160=) c.3486T>C (p.Val1162=) | |
| 8 | g.115414401A>T | CA462658414 | TRPS1 | c.3507T>A (p.Val1169=) c.3468T>A (p.Val1156=) c.2730T>A (p.Val910=) c.3480T>A (p.Val1160=) c.3486T>A (p.Val1162=) | |
| 8 | g.115414402A= | CA1812853804 | TRPS1 | c.3506T= (p.Val1169=) c.3467T= (p.Val1156=) c.2729T= (p.Val910=) c.3479T= (p.Val1160=) c.3485T= (p.Val1162=) | |
| 8 | g.115414402A>C | CA372062601 | TRPS1 | c.3506T>G (p.Val1169Gly) c.3467T>G (p.Val1156Gly) c.2729T>G (p.Val910Gly) c.3479T>G (p.Val1160Gly) c.3485T>G (p.Val1162Gly) | |
| 8 | g.115414402A>G | CA372062602 | TRPS1 | c.3506T>C (p.Val1169Ala) c.3467T>C (p.Val1156Ala) c.2729T>C (p.Val910Ala) c.3479T>C (p.Val1160Ala) c.3485T>C (p.Val1162Ala) | dbSNP |
| 8 | g.115414402A>T | CA372062603 | TRPS1 | c.3506T>A (p.Val1169Asp) c.3467T>A (p.Val1156Asp) c.2729T>A (p.Val910Asp) c.3479T>A (p.Val1160Asp) c.3485T>A (p.Val1162Asp) | |
| 8 | g.115414403C>A | CA4851480 | TRPS1 | c.3505G>T (p.Val1169Phe) c.3466G>T (p.Val1156Phe) c.2728G>T (p.Val910Phe) c.3478G>T (p.Val1160Phe) c.3484G>T (p.Val1162Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414403C= | CA1812853807 | TRPS1 | c.3505G= (p.Val1169=) c.3466G= (p.Val1156=) c.2728G= (p.Val910=) c.3478G= (p.Val1160=) c.3484G= (p.Val1162=) | |
| 8 | g.115414403C>G | CA372062605 | TRPS1 | c.3505G>C (p.Val1169Leu) c.3466G>C (p.Val1156Leu) c.2728G>C (p.Val910Leu) c.3478G>C (p.Val1160Leu) c.3484G>C (p.Val1162Leu) | |
| 8 | g.115414403C>T | CA372062604 | TRPS1 | c.3505G>A (p.Val1169Ile) c.3466G>A (p.Val1156Ile) c.2728G>A (p.Val910Ile) c.3478G>A (p.Val1160Ile) c.3484G>A (p.Val1162Ile) | gnomAD v4 |
| 8 | g.115414404A>C | CA462658418 | TRPS1 | c.3504T>G (p.Ala1168=) c.3465T>G (p.Ala1155=) c.2727T>G (p.Ala909=) c.3477T>G (p.Ala1159=) c.3483T>G (p.Ala1161=) | |
| 8 | g.115414404A>G | CA462658419 | TRPS1 | c.3504T>C (p.Ala1168=) c.3465T>C (p.Ala1155=) c.2727T>C (p.Ala909=) c.3477T>C (p.Ala1159=) c.3483T>C (p.Ala1161=) | |
| 8 | g.115414404A>T | CA462658420 | TRPS1 | c.3504T>A (p.Ala1168=) c.3465T>A (p.Ala1155=) c.2727T>A (p.Ala909=) c.3477T>A (p.Ala1159=) c.3483T>A (p.Ala1161=) | |
| 8 | g.115414405G>A | CA372062606 | TRPS1 | c.3503C>T (p.Ala1168Val) c.3464C>T (p.Ala1155Val) c.2726C>T (p.Ala909Val) c.3476C>T (p.Ala1159Val) c.3482C>T (p.Ala1161Val) | gnomAD v4 |
| 8 | g.115414405G>C | CA372062607 | TRPS1 | c.3503C>G (p.Ala1168Gly) c.3464C>G (p.Ala1155Gly) c.2726C>G (p.Ala909Gly) c.3476C>G (p.Ala1159Gly) c.3482C>G (p.Ala1161Gly) | |
| 8 | g.115414405G>T | CA372062608 | TRPS1 | c.3503C>A (p.Ala1168Asp) c.3464C>A (p.Ala1155Asp) c.2726C>A (p.Ala909Asp) c.3476C>A (p.Ala1159Asp) c.3482C>A (p.Ala1161Asp) | |
| 8 | g.115414406C>A | CA4851481 | TRPS1 | c.3502G>T (p.Ala1168Ser) c.3463G>T (p.Ala1155Ser) c.2725G>T (p.Ala909Ser) c.3475G>T (p.Ala1159Ser) c.3481G>T (p.Ala1161Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414406C= | CA1812853810 | TRPS1 | c.3502G= (p.Ala1168=) c.3463G= (p.Ala1155=) c.2725G= (p.Ala909=) c.3475G= (p.Ala1159=) c.3481G= (p.Ala1161=) | |
| 8 | g.115414406C>G | CA372062609 | TRPS1 | c.3502G>C (p.Ala1168Pro) c.3463G>C (p.Ala1155Pro) c.2725G>C (p.Ala909Pro) c.3475G>C (p.Ala1159Pro) c.3481G>C (p.Ala1161Pro) | |
| 8 | g.115414406C>T | CA372062610 | TRPS1 | c.3502G>A (p.Ala1168Thr) c.3463G>A (p.Ala1155Thr) c.2725G>A (p.Ala909Thr) c.3475G>A (p.Ala1159Thr) c.3481G>A (p.Ala1161Thr) | |
| 8 | g.115414407T>A | CA462658422 | TRPS1 | c.3501A>T (p.Ser1167=) c.3462A>T (p.Ser1154=) c.2724A>T (p.Ser908=) c.3474A>T (p.Ser1158=) c.3480A>T (p.Ser1160=) | |
| 8 | g.115414407T>C | CA462658423 | TRPS1 | c.3501A>G (p.Ser1167=) c.3462A>G (p.Ser1154=) c.2724A>G (p.Ser908=) c.3474A>G (p.Ser1158=) c.3480A>G (p.Ser1160=) | |
| 8 | g.115414407T>G | CA462658424 | TRPS1 | c.3501A>C (p.Ser1167=) c.3462A>C (p.Ser1154=) c.2724A>C (p.Ser908=) c.3474A>C (p.Ser1158=) c.3480A>C (p.Ser1160=) | |
| 8 | g.115414408G>A | CA184469484 | TRPS1 | c.3500C>T (p.Ser1167Leu) c.3461C>T (p.Ser1154Leu) c.2723C>T (p.Ser908Leu) c.3473C>T (p.Ser1158Leu) c.3479C>T (p.Ser1160Leu) | dbSNP gnomAD v4 |
| 8 | g.115414408G>C | CA372062611 | TRPS1 | c.3500C>G (p.Ser1167Ter) c.3461C>G (p.Ser1154Ter) c.2723C>G (p.Ser908Ter) c.3473C>G (p.Ser1158Ter) c.3479C>G (p.Ser1160Ter) | |
| 8 | g.115414408G= | CA1812853812 | TRPS1 | c.3500C= (p.Ser1167=) c.3461C= (p.Ser1154=) c.2723C= (p.Ser908=) c.3473C= (p.Ser1158=) c.3479C= (p.Ser1160=) | |
| 8 | g.115414408G>T | CA372062612 | TRPS1 | c.3500C>A (p.Ser1167Ter) c.3461C>A (p.Ser1154Ter) c.2723C>A (p.Ser908Ter) c.3473C>A (p.Ser1158Ter) c.3479C>A (p.Ser1160Ter) | |
| 8 | g.115414409A>C | CA372062613 | TRPS1 | c.3499T>G (p.Ser1167Ala) c.3460T>G (p.Ser1154Ala) c.2722T>G (p.Ser908Ala) c.3472T>G (p.Ser1158Ala) c.3478T>G (p.Ser1160Ala) | |
| 8 | g.115414409A>G | CA372062614 | TRPS1 | c.3499T>C (p.Ser1167Pro) c.3460T>C (p.Ser1154Pro) c.2722T>C (p.Ser908Pro) c.3472T>C (p.Ser1158Pro) c.3478T>C (p.Ser1160Pro) | |
| 8 | g.115414409A>T | CA372062615 | TRPS1 | c.3499T>A (p.Ser1167Thr) c.3460T>A (p.Ser1154Thr) c.2722T>A (p.Ser908Thr) c.3472T>A (p.Ser1158Thr) c.3478T>A (p.Ser1160Thr) | |
| 8 | g.115414410A>C | CA372062616 | TRPS1 | c.3498T>G (p.Phe1166Leu) c.3459T>G (p.Phe1153Leu) c.2721T>G (p.Phe907Leu) c.3471T>G (p.Phe1157Leu) c.3477T>G (p.Phe1159Leu) | |
| 8 | g.115414410A>G | CA462658428 | TRPS1 | c.3498T>C (p.Phe1166=) c.3459T>C (p.Phe1153=) c.2721T>C (p.Phe907=) c.3471T>C (p.Phe1157=) c.3477T>C (p.Phe1159=) | gnomAD v4 COSMIC COSMIC |
| 8 | g.115414410A>T | CA372062617 | TRPS1 | c.3498T>A (p.Phe1166Leu) c.3459T>A (p.Phe1153Leu) c.2721T>A (p.Phe907Leu) c.3471T>A (p.Phe1157Leu) c.3477T>A (p.Phe1159Leu) | |
| 8 | g.115414411A>C | CA372062620 | TRPS1 | c.3497T>G (p.Phe1166Cys) c.3458T>G (p.Phe1153Cys) c.2720T>G (p.Phe907Cys) c.3470T>G (p.Phe1157Cys) c.3476T>G (p.Phe1159Cys) | |
| 8 | g.115414411A>G | CA372062619 | TRPS1 | c.3497T>C (p.Phe1166Ser) c.3458T>C (p.Phe1153Ser) c.2720T>C (p.Phe907Ser) c.3470T>C (p.Phe1157Ser) c.3476T>C (p.Phe1159Ser) | |
| 8 | g.115414411A>T | CA372062618 | TRPS1 | c.3497T>A (p.Phe1166Tyr) c.3458T>A (p.Phe1153Tyr) c.2720T>A (p.Phe907Tyr) c.3470T>A (p.Phe1157Tyr) c.3476T>A (p.Phe1159Tyr) | |
| 8 | g.115414412A>C | CA372062621 | TRPS1 | c.3496T>G (p.Phe1166Val) c.3457T>G (p.Phe1153Val) c.2719T>G (p.Phe907Val) c.3469T>G (p.Phe1157Val) c.3475T>G (p.Phe1159Val) | |
| 8 | g.115414412A>G | CA372062622 | TRPS1 | c.3496T>C (p.Phe1166Leu) c.3457T>C (p.Phe1153Leu) c.2719T>C (p.Phe907Leu) c.3469T>C (p.Phe1157Leu) c.3475T>C (p.Phe1159Leu) | |
| 8 | g.115414412A>T | CA372062623 | TRPS1 | c.3496T>A (p.Phe1166Ile) c.3457T>A (p.Phe1153Ile) c.2719T>A (p.Phe907Ile) c.3469T>A (p.Phe1157Ile) c.3475T>A (p.Phe1159Ile) | |
| 8 | g.115414413A>C | CA372062624 | TRPS1 | c.3495T>G (p.His1165Gln) c.3456T>G (p.His1152Gln) c.2718T>G (p.His906Gln) c.3468T>G (p.His1156Gln) c.3474T>G (p.His1158Gln) | |
| 8 | g.115414413A>G | CA462658430 | TRPS1 | c.3495T>C (p.His1165=) c.3456T>C (p.His1152=) c.2718T>C (p.His906=) c.3468T>C (p.His1156=) c.3474T>C (p.His1158=) | |
| 8 | g.115414413A>T | CA372062625 | TRPS1 | c.3495T>A (p.His1165Gln) c.3456T>A (p.His1152Gln) c.2718T>A (p.His906Gln) c.3468T>A (p.His1156Gln) c.3474T>A (p.His1158Gln) | COSMIC |
| 8 | g.115414414T>A | CA372062626 | TRPS1 | c.3494A>T (p.His1165Leu) c.3455A>T (p.His1152Leu) c.2717A>T (p.His906Leu) c.3467A>T (p.His1156Leu) c.3473A>T (p.His1158Leu) | |
| 8 | g.115414414T>C | CA372062627 | TRPS1 | c.3494A>G (p.His1165Arg) c.3455A>G (p.His1152Arg) c.2717A>G (p.His906Arg) c.3467A>G (p.His1156Arg) c.3473A>G (p.His1158Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414414T>G | CA372062628 | TRPS1 | c.3494A>C (p.His1165Pro) c.3455A>C (p.His1152Pro) c.2717A>C (p.His906Pro) c.3467A>C (p.His1156Pro) c.3473A>C (p.His1158Pro) | |
| 8 | g.115414414T= | CA1812853817 | TRPS1 | c.3494A= (p.His1165=) c.3455A= (p.His1152=) c.2717A= (p.His906=) c.3467A= (p.His1156=) c.3473A= (p.His1158=) | |
| 8 | g.115414415G>A | CA372062629 | TRPS1 | c.3493C>T (p.His1165Tyr) c.3454C>T (p.His1152Tyr) c.2716C>T (p.His906Tyr) c.3466C>T (p.His1156Tyr) c.3472C>T (p.His1158Tyr) | dbSNP gnomAD v4 |
| 8 | g.115414415G>C | CA372062630 | TRPS1 | c.3493C>G (p.His1165Asp) c.3454C>G (p.His1152Asp) c.2716C>G (p.His906Asp) c.3466C>G (p.His1156Asp) c.3472C>G (p.His1158Asp) | |
| 8 | g.115414415G= | CA1812853822 | TRPS1 | c.3493C= (p.His1165=) c.3454C= (p.His1152=) c.2716C= (p.His906=) c.3466C= (p.His1156=) c.3472C= (p.His1158=) | |
| 8 | g.115414415G>T | CA372062631 | TRPS1 | c.3493C>A (p.His1165Asn) c.3454C>A (p.His1152Asn) c.2716C>A (p.His906Asn) c.3466C>A (p.His1156Asn) c.3472C>A (p.His1158Asn) | |
| 8 | g.115414416A>C | CA462658434 | TRPS1 | c.3492T>G (p.Pro1164=) c.3453T>G (p.Pro1151=) c.2715T>G (p.Pro905=) c.3465T>G (p.Pro1155=) c.3471T>G (p.Pro1157=) | |
| 8 | g.115414416A>G | CA462658435 | TRPS1 | c.3492T>C (p.Pro1164=) c.3453T>C (p.Pro1151=) c.2715T>C (p.Pro905=) c.3465T>C (p.Pro1155=) c.3471T>C (p.Pro1157=) | |
| 8 | g.115414416A>T | CA462658436 | TRPS1 | c.3492T>A (p.Pro1164=) c.3453T>A (p.Pro1151=) c.2715T>A (p.Pro905=) c.3465T>A (p.Pro1155=) c.3471T>A (p.Pro1157=) | |
| 8 | g.115414417G>A | CA372062632 | TRPS1 | c.3491C>T (p.Pro1164Leu) c.3452C>T (p.Pro1151Leu) c.2714C>T (p.Pro905Leu) c.3464C>T (p.Pro1155Leu) c.3470C>T (p.Pro1157Leu) | |
| 8 | g.115414417G>C | CA372062633 | TRPS1 | c.3491C>G (p.Pro1164Arg) c.3452C>G (p.Pro1151Arg) c.2714C>G (p.Pro905Arg) c.3464C>G (p.Pro1155Arg) c.3470C>G (p.Pro1157Arg) | gnomAD v4 |
| 8 | g.115414417G>T | CA372062634 | TRPS1 | c.3491C>A (p.Pro1164His) c.3452C>A (p.Pro1151His) c.2714C>A (p.Pro905His) c.3464C>A (p.Pro1155His) c.3470C>A (p.Pro1157His) | |
| 8 | g.115414418G>A | CA372062636 | TRPS1 | c.3490C>T (p.Pro1164Ser) c.3451C>T (p.Pro1151Ser) c.2713C>T (p.Pro905Ser) c.3463C>T (p.Pro1155Ser) c.3469C>T (p.Pro1157Ser) | |
| 8 | g.115414418G>C | CA372062637 | TRPS1 | c.3490C>G (p.Pro1164Ala) c.3451C>G (p.Pro1151Ala) c.2713C>G (p.Pro905Ala) c.3463C>G (p.Pro1155Ala) c.3469C>G (p.Pro1157Ala) | |
| 8 | g.115414418G>T | CA372062635 | TRPS1 | c.3490C>A (p.Pro1164Thr) c.3451C>A (p.Pro1151Thr) c.2713C>A (p.Pro905Thr) c.3463C>A (p.Pro1155Thr) c.3469C>A (p.Pro1157Thr) | |
| 8 | g.115414419A= | CA1812853824 | TRPS1 | c.3489T= (p.Pro1163=) c.3450T= (p.Pro1150=) c.2712T= (p.Pro904=) c.3462T= (p.Pro1154=) c.3468T= (p.Pro1156=) | |
| 8 | g.115414419A>C | CA462658440 | TRPS1 | c.3489T>G (p.Pro1163=) c.3450T>G (p.Pro1150=) c.2712T>G (p.Pro904=) c.3462T>G (p.Pro1154=) c.3468T>G (p.Pro1156=) | |
| 8 | g.115414419A>G | CA462658441 | TRPS1 | c.3489T>C (p.Pro1163=) c.3450T>C (p.Pro1150=) c.2712T>C (p.Pro904=) c.3462T>C (p.Pro1154=) c.3468T>C (p.Pro1156=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414419A>T | CA462658442 | TRPS1 | c.3489T>A (p.Pro1163=) c.3450T>A (p.Pro1150=) c.2712T>A (p.Pro904=) c.3462T>A (p.Pro1154=) c.3468T>A (p.Pro1156=) | |
| 8 | g.115414420G>A | CA372062638 | TRPS1 | c.3488C>T (p.Pro1163Leu) c.3449C>T (p.Pro1150Leu) c.2711C>T (p.Pro904Leu) c.3461C>T (p.Pro1154Leu) c.3467C>T (p.Pro1156Leu) | |
| 8 | g.115414420G>C | CA372062639 | TRPS1 | c.3488C>G (p.Pro1163Arg) c.3449C>G (p.Pro1150Arg) c.2711C>G (p.Pro904Arg) c.3461C>G (p.Pro1154Arg) c.3467C>G (p.Pro1156Arg) | |
| 8 | g.115414420G= | CA1812853827 | TRPS1 | c.3488C= (p.Pro1163=) c.3449C= (p.Pro1150=) c.2711C= (p.Pro904=) c.3461C= (p.Pro1154=) c.3467C= (p.Pro1156=) | |
| 8 | g.115414420G>T | CA184469488 | TRPS1 | c.3488C>A (p.Pro1163His) c.3449C>A (p.Pro1150His) c.2711C>A (p.Pro904His) c.3461C>A (p.Pro1154His) c.3467C>A (p.Pro1156His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414421G>A | CA372062640 | TRPS1 | c.3487C>T (p.Pro1163Ser) c.3448C>T (p.Pro1150Ser) c.2710C>T (p.Pro904Ser) c.3460C>T (p.Pro1154Ser) c.3466C>T (p.Pro1156Ser) | |
| 8 | g.115414421G>C | CA372062641 | TRPS1 | c.3487C>G (p.Pro1163Ala) c.3448C>G (p.Pro1150Ala) c.2710C>G (p.Pro904Ala) c.3460C>G (p.Pro1154Ala) c.3466C>G (p.Pro1156Ala) | |
| 8 | g.115414421G>T | CA372062642 | TRPS1 | c.3487C>A (p.Pro1163Thr) c.3448C>A (p.Pro1150Thr) c.2710C>A (p.Pro904Thr) c.3460C>A (p.Pro1154Thr) c.3466C>A (p.Pro1156Thr) | |
| 8 | g.115414422C>A | CA462658449 | TRPS1 | c.3486G>T (p.Leu1162=) c.3447G>T (p.Leu1149=) c.2709G>T (p.Leu903=) c.3459G>T (p.Leu1153=) c.3465G>T (p.Leu1155=) | |
| 8 | g.115414422C>G | CA462658447 | TRPS1 | c.3486G>C (p.Leu1162=) c.3447G>C (p.Leu1149=) c.2709G>C (p.Leu903=) c.3459G>C (p.Leu1153=) c.3465G>C (p.Leu1155=) | |
| 8 | g.115414422C>T | CA462658446 | TRPS1 | c.3486G>A (p.Leu1162=) c.3447G>A (p.Leu1149=) c.2709G>A (p.Leu903=) c.3459G>A (p.Leu1153=) c.3465G>A (p.Leu1155=) | ClinVar |
| 8 | g.115414423A>C | CA372062643 | TRPS1 | c.3485T>G (p.Leu1162Arg) c.3446T>G (p.Leu1149Arg) c.2708T>G (p.Leu903Arg) c.3458T>G (p.Leu1153Arg) c.3464T>G (p.Leu1155Arg) | COSMIC COSMIC |
| 8 | g.115414423A>G | CA372062644 | TRPS1 | c.3485T>C (p.Leu1162Pro) c.3446T>C (p.Leu1149Pro) c.2708T>C (p.Leu903Pro) c.3458T>C (p.Leu1153Pro) c.3464T>C (p.Leu1155Pro) | |
| 8 | g.115414423A>T | CA372062645 | TRPS1 | c.3485T>A (p.Leu1162Gln) c.3446T>A (p.Leu1149Gln) c.2708T>A (p.Leu903Gln) c.3458T>A (p.Leu1153Gln) c.3464T>A (p.Leu1155Gln) | |
| 8 | g.115414424G>A | CA462658451 | TRPS1 | c.3484C>T (p.Leu1162=) c.3445C>T (p.Leu1149=) c.2707C>T (p.Leu903=) c.3457C>T (p.Leu1153=) c.3463C>T (p.Leu1155=) | |
| 8 | g.115414424G>C | CA372062646 | TRPS1 | c.3484C>G (p.Leu1162Val) c.3445C>G (p.Leu1149Val) c.2707C>G (p.Leu903Val) c.3457C>G (p.Leu1153Val) c.3463C>G (p.Leu1155Val) | gnomAD v4 |
| 8 | g.115414424G>T | CA372062647 | TRPS1 | c.3484C>A (p.Leu1162Met) c.3445C>A (p.Leu1149Met) c.2707C>A (p.Leu903Met) c.3457C>A (p.Leu1153Met) c.3463C>A (p.Leu1155Met) | gnomAD v4 |
| 8 | g.115414425A= | CA1812853829 | TRPS1 | c.3483T= (p.Asn1161=) c.3444T= (p.Asn1148=) c.2706T= (p.Asn902=) c.3456T= (p.Asn1152=) c.3462T= (p.Asn1154=) | |
| 8 | g.115414425A>C | CA4851482 | TRPS1 | c.3483T>G (p.Asn1161Lys) c.3444T>G (p.Asn1148Lys) c.2706T>G (p.Asn902Lys) c.3456T>G (p.Asn1152Lys) c.3462T>G (p.Asn1154Lys) | dbSNP ExAC gnomAD v2 |
| 8 | g.115414425A>G | CA462658452 | TRPS1 | c.3483T>C (p.Asn1161=) c.3444T>C (p.Asn1148=) c.2706T>C (p.Asn902=) c.3456T>C (p.Asn1152=) c.3462T>C (p.Asn1154=) | gnomAD v4 COSMIC COSMIC |
| 8 | g.115414425A>T | CA372062648 | TRPS1 | c.3483T>A (p.Asn1161Lys) c.3444T>A (p.Asn1148Lys) c.2706T>A (p.Asn902Lys) c.3456T>A (p.Asn1152Lys) c.3462T>A (p.Asn1154Lys) | |
| 8 | g.115414426T>A | CA372062650 | TRPS1 | c.3482A>T (p.Asn1161Ile) c.3443A>T (p.Asn1148Ile) c.2705A>T (p.Asn902Ile) c.3455A>T (p.Asn1152Ile) c.3461A>T (p.Asn1154Ile) | |
| 8 | g.115414426T>C | CA4851483 | TRPS1 | c.3482A>G (p.Asn1161Ser) c.3443A>G (p.Asn1148Ser) c.2705A>G (p.Asn902Ser) c.3455A>G (p.Asn1152Ser) c.3461A>G (p.Asn1154Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414426T>G | CA372062649 | TRPS1 | c.3482A>C (p.Asn1161Thr) c.3443A>C (p.Asn1148Thr) c.2705A>C (p.Asn902Thr) c.3455A>C (p.Asn1152Thr) c.3461A>C (p.Asn1154Thr) | |
| 8 | g.115414426T= | CA1812853834 | TRPS1 | c.3482A= (p.Asn1161=) c.3443A= (p.Asn1148=) c.2705A= (p.Asn902=) c.3455A= (p.Asn1152=) c.3461A= (p.Asn1154=) | |
| 8 | g.115414427T>A | CA372062651 | TRPS1 | c.3481A>T (p.Asn1161Tyr) c.3442A>T (p.Asn1148Tyr) c.2704A>T (p.Asn902Tyr) c.3454A>T (p.Asn1152Tyr) c.3460A>T (p.Asn1154Tyr) | |
| 8 | g.115414427T>C | CA372062652 | TRPS1 | c.3481A>G (p.Asn1161Asp) c.3442A>G (p.Asn1148Asp) c.2704A>G (p.Asn902Asp) c.3454A>G (p.Asn1152Asp) c.3460A>G (p.Asn1154Asp) | |
| 8 | g.115414427T>G | CA372062653 | TRPS1 | c.3481A>C (p.Asn1161His) c.3442A>C (p.Asn1148His) c.2704A>C (p.Asn902His) c.3454A>C (p.Asn1152His) c.3460A>C (p.Asn1154His) | |
| 8 | g.115414428G>A | CA462658454 | TRPS1 | c.3480C>T (p.Phe1160=) c.3441C>T (p.Phe1147=) c.2703C>T (p.Phe901=) c.3453C>T (p.Phe1151=) c.3459C>T (p.Phe1153=) | |
| 8 | g.115414428G>C | CA372062654 | TRPS1 | c.3480C>G (p.Phe1160Leu) c.3441C>G (p.Phe1147Leu) c.2703C>G (p.Phe901Leu) c.3453C>G (p.Phe1151Leu) c.3459C>G (p.Phe1153Leu) | |
| 8 | g.115414428G>T | CA372062655 | TRPS1 | c.3480C>A (p.Phe1160Leu) c.3441C>A (p.Phe1147Leu) c.2703C>A (p.Phe901Leu) c.3453C>A (p.Phe1151Leu) c.3459C>A (p.Phe1153Leu) | |
| 8 | g.115414429A>C | CA372062656 | TRPS1 | c.3479T>G (p.Phe1160Cys) c.3440T>G (p.Phe1147Cys) c.813T>G c.2702T>G (p.Phe901Cys) c.3452T>G (p.Phe1151Cys) c.3458T>G (p.Phe1153Cys) | |
| 8 | g.115414429A>G | CA372062657 | TRPS1 | c.3479T>C (p.Phe1160Ser) c.3440T>C (p.Phe1147Ser) c.813T>C c.2702T>C (p.Phe901Ser) c.3452T>C (p.Phe1151Ser) c.3458T>C (p.Phe1153Ser) | |
| 8 | g.115414429A>T | CA372062658 | TRPS1 | c.3479T>A (p.Phe1160Tyr) c.3440T>A (p.Phe1147Tyr) c.813T>A c.2702T>A (p.Phe901Tyr) c.3452T>A (p.Phe1151Tyr) c.3458T>A (p.Phe1153Tyr) | |
| 8 | g.115414430A>C | CA372062659 | TRPS1 | c.3478T>G (p.Phe1160Val) c.3439T>G (p.Phe1147Val) c.812T>G c.2701T>G (p.Phe901Val) c.3451T>G (p.Phe1151Val) c.3457T>G (p.Phe1153Val) | |
| 8 | g.115414430A>G | CA372062660 | TRPS1 | c.3478T>C (p.Phe1160Leu) c.3439T>C (p.Phe1147Leu) c.812T>C c.2701T>C (p.Phe901Leu) c.3451T>C (p.Phe1151Leu) c.3457T>C (p.Phe1153Leu) | |
| 8 | g.115414430A>T | CA372062661 | TRPS1 | c.3478T>A (p.Phe1160Ile) c.3439T>A (p.Phe1147Ile) c.812T>A c.2701T>A (p.Phe901Ile) c.3451T>A (p.Phe1151Ile) c.3457T>A (p.Phe1153Ile) | |
| 8 | g.115414431G>A | CA4851484 | TRPS1 | c.3477C>T (p.Thr1159=) c.3438C>T (p.Thr1146=) c.811C>T c.2700C>T (p.Thr900=) c.3450C>T (p.Thr1150=) c.3456C>T (p.Thr1152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414431G>C | CA462658455 | TRPS1 | c.3477C>G (p.Thr1159=) c.3438C>G (p.Thr1146=) c.811C>G c.2700C>G (p.Thr900=) c.3450C>G (p.Thr1150=) c.3456C>G (p.Thr1152=) | |
| 8 | g.115414431G= | CA1812853840 | TRPS1 | c.3477C= (p.Thr1159=) c.3438C= (p.Thr1146=) c.811C= c.2700C= (p.Thr900=) c.3450C= (p.Thr1150=) c.3456C= (p.Thr1152=) | |
| 8 | g.115414431G>T | CA462658456 | TRPS1 | c.3477C>A (p.Thr1159=) c.3438C>A (p.Thr1146=) c.811C>A c.2700C>A (p.Thr900=) c.3450C>A (p.Thr1150=) c.3456C>A (p.Thr1152=) | |
| 8 | g.115414432G>A | CA372062662 | TRPS1 | c.3476C>T (p.Thr1159Ile) c.3437C>T (p.Thr1146Ile) c.810C>T c.2699C>T (p.Thr900Ile) c.3449C>T (p.Thr1150Ile) c.3455C>T (p.Thr1152Ile) | |
| 8 | g.115414432G>C | CA372062664 | TRPS1 | c.3476C>G (p.Thr1159Ser) c.3437C>G (p.Thr1146Ser) c.810C>G c.2699C>G (p.Thr900Ser) c.3449C>G (p.Thr1150Ser) c.3455C>G (p.Thr1152Ser) | |
| 8 | g.115414432G>T | CA372062663 | TRPS1 | c.3476C>A (p.Thr1159Asn) c.3437C>A (p.Thr1146Asn) c.810C>A c.2699C>A (p.Thr900Asn) c.3449C>A (p.Thr1150Asn) c.3455C>A (p.Thr1152Asn) | |
| 8 | g.115414433T>A | CA372062665 | TRPS1 | c.3475A>T (p.Thr1159Ser) c.3436A>T (p.Thr1146Ser) c.809A>T c.2698A>T (p.Thr900Ser) c.3448A>T (p.Thr1150Ser) c.3454A>T (p.Thr1152Ser) | |
| 8 | g.115414433T>C | CA372062667 | TRPS1 | c.3475A>G (p.Thr1159Ala) c.3436A>G (p.Thr1146Ala) c.809A>G c.2698A>G (p.Thr900Ala) c.3448A>G (p.Thr1150Ala) c.3454A>G (p.Thr1152Ala) | gnomAD v4 |
| 8 | g.115414433T>G | CA372062666 | TRPS1 | c.3475A>C (p.Thr1159Pro) c.3436A>C (p.Thr1146Pro) c.809A>C c.2698A>C (p.Thr900Pro) c.3448A>C (p.Thr1150Pro) c.3454A>C (p.Thr1152Pro) | |
| 8 | g.115414434G>A | CA462658457 | TRPS1 | c.3474C>T (p.Pro1158=) c.3435C>T (p.Pro1145=) c.808C>T c.2697C>T (p.Pro899=) c.3447C>T (p.Pro1149=) c.3453C>T (p.Pro1151=) | dbSNP |
| 8 | g.115414434G>C | CA462658458 | TRPS1 | c.3474C>G (p.Pro1158=) c.3435C>G (p.Pro1145=) c.808C>G c.2697C>G (p.Pro899=) c.3447C>G (p.Pro1149=) c.3453C>G (p.Pro1151=) | |
| 8 | g.115414434G= | CA1812853844 | TRPS1 | c.3474C= (p.Pro1158=) c.3435C= (p.Pro1145=) c.808C= c.2697C= (p.Pro899=) c.3447C= (p.Pro1149=) c.3453C= (p.Pro1151=) | |
| 8 | g.115414434G>T | CA462658459 | TRPS1 | c.3474C>A (p.Pro1158=) c.3435C>A (p.Pro1145=) c.808C>A c.2697C>A (p.Pro899=) c.3447C>A (p.Pro1149=) c.3453C>A (p.Pro1151=) | |
| 8 | g.115414435G>A | CA372062668 | TRPS1 | c.3473C>T (p.Pro1158Leu) c.3434C>T (p.Pro1145Leu) c.807C>T c.2696C>T (p.Pro899Leu) c.3446C>T (p.Pro1149Leu) c.3452C>T (p.Pro1151Leu) | |
| 8 | g.115414435G>C | CA372062669 | TRPS1 | c.3473C>G (p.Pro1158Arg) c.3434C>G (p.Pro1145Arg) c.807C>G c.2696C>G (p.Pro899Arg) c.3446C>G (p.Pro1149Arg) c.3452C>G (p.Pro1151Arg) | gnomAD v4 |
| 8 | g.115414435G= | CA1812853847 | TRPS1 | c.3473C= (p.Pro1158=) c.3434C= (p.Pro1145=) c.807C= c.2696C= (p.Pro899=) c.3446C= (p.Pro1149=) c.3452C= (p.Pro1151=) | |
| 8 | g.115414435G>T | CA372062670 | TRPS1 | c.3473C>A (p.Pro1158His) c.3434C>A (p.Pro1145His) c.807C>A c.2696C>A (p.Pro899His) c.3446C>A (p.Pro1149His) c.3452C>A (p.Pro1151His) | |
| 8 | g.115414437_115414442del | CA2688317593 | TRPS1 | c.3468_3473del (p.Tyr1157_Pro1158del) c.3429_3434del (p.Tyr1144_Pro1145del) c.802_807del c.2691_2696del (p.Tyr898_Pro899del) c.3441_3446del (p.Tyr1148_Pro1149del) c.3447_3452del (p.Tyr1150_Pro1151del) | gnomAD v4 |
| 8 | g.115414435_115414436insTAAAAACAGAGAAAGTTGATA | CA1812853849 | TRPS1 | c.3472_3473insTATCAACTTTCTCTGTTTTTA (p.Pro1158delinsLeuSerThrPheSerValPheThr) c.3433_3434insTATCAACTTTCTCTGTTTTTA (p.Pro1145delinsLeuSerThrPheSerValPheThr) c.806_807insTATCAACTTTCTCTGTTTTTA c.2695_2696insTATCAACTTTCTCTGTTTTTA (p.Pro899delinsLeuSerThrPheSerValPheThr) c.3445_3446insTATCAACTTTCTCTGTTTTTA (p.Pro1149delinsLeuSerThrPheSerValPheThr) c.3451_3452insTATCAACTTTCTCTGTTTTTA (p.Pro1151delinsLeuSerThrPheSerValPheThr) | dbSNP |
| 8 | g.115414436G>A | CA372062671 | TRPS1 | c.3472C>T (p.Pro1158Ser) c.3433C>T (p.Pro1145Ser) c.806C>T c.2695C>T (p.Pro899Ser) c.3445C>T (p.Pro1149Ser) c.3451C>T (p.Pro1151Ser) | |
| 8 | g.115414436G>C | CA372062672 | TRPS1 | c.3472C>G (p.Pro1158Ala) c.3433C>G (p.Pro1145Ala) c.806C>G c.2695C>G (p.Pro899Ala) c.3445C>G (p.Pro1149Ala) c.3451C>G (p.Pro1151Ala) | |
| 8 | g.115414436G>T | CA372062673 | TRPS1 | c.3472C>A (p.Pro1158Thr) c.3433C>A (p.Pro1145Thr) c.806C>A c.2695C>A (p.Pro899Thr) c.3445C>A (p.Pro1149Thr) c.3451C>A (p.Pro1151Thr) | |
| 8 | g.115414437A>C | CA372062674 | TRPS1 | c.3471T>G (p.Tyr1157Ter) c.3432T>G (p.Tyr1144Ter) c.805T>G c.2694T>G (p.Tyr898Ter) c.3444T>G (p.Tyr1148Ter) c.3450T>G (p.Tyr1150Ter) | |
| 8 | g.115414437A>G | CA462658460 | TRPS1 | c.3471T>C (p.Tyr1157=) c.3432T>C (p.Tyr1144=) c.805T>C c.2694T>C (p.Tyr898=) c.3444T>C (p.Tyr1148=) c.3450T>C (p.Tyr1150=) | |
| 8 | g.115414437A>T | CA372062675 | TRPS1 | c.3471T>A (p.Tyr1157Ter) c.3432T>A (p.Tyr1144Ter) c.805T>A c.2694T>A (p.Tyr898Ter) c.3444T>A (p.Tyr1148Ter) c.3450T>A (p.Tyr1150Ter) | |
| 8 | g.115414438T>A | CA372062676 | TRPS1 | c.3470A>T (p.Tyr1157Phe) c.3431A>T (p.Tyr1144Phe) c.804A>T c.2693A>T (p.Tyr898Phe) c.3443A>T (p.Tyr1148Phe) c.3449A>T (p.Tyr1150Phe) | |
| 8 | g.115414438T>C | CA372062677 | TRPS1 | c.3470A>G (p.Tyr1157Cys) c.3431A>G (p.Tyr1144Cys) c.804A>G c.2693A>G (p.Tyr898Cys) c.3443A>G (p.Tyr1148Cys) c.3449A>G (p.Tyr1150Cys) | |
| 8 | g.115414438T>G | CA372062678 | TRPS1 | c.3470A>C (p.Tyr1157Ser) c.3431A>C (p.Tyr1144Ser) c.804A>C c.2693A>C (p.Tyr898Ser) c.3443A>C (p.Tyr1148Ser) c.3449A>C (p.Tyr1150Ser) | |
| 8 | g.115414439A>C | CA372062681 | TRPS1 | c.3469T>G (p.Tyr1157Asp) c.3430T>G (p.Tyr1144Asp) c.803T>G c.2692T>G (p.Tyr898Asp) c.3442T>G (p.Tyr1148Asp) c.3448T>G (p.Tyr1150Asp) | |
| 8 | g.115414439A>G | CA372062680 | TRPS1 | c.3469T>C (p.Tyr1157His) c.3430T>C (p.Tyr1144His) c.803T>C c.2692T>C (p.Tyr898His) c.3442T>C (p.Tyr1148His) c.3448T>C (p.Tyr1150His) | |
| 8 | g.115414439A>T | CA372062679 | TRPS1 | c.3469T>A (p.Tyr1157Asn) c.3430T>A (p.Tyr1144Asn) c.803T>A c.2692T>A (p.Tyr898Asn) c.3442T>A (p.Tyr1148Asn) c.3448T>A (p.Tyr1150Asn) | |
| 8 | g.115414440A>C | CA462658461 | TRPS1 | c.3468T>G (p.Pro1156=) c.3429T>G (p.Pro1143=) c.802T>G c.2691T>G (p.Pro897=) c.3441T>G (p.Pro1147=) c.3447T>G (p.Pro1149=) | gnomAD v4 |
| 8 | g.115414440A>G | CA462658462 | TRPS1 | c.3468T>C (p.Pro1156=) c.3429T>C (p.Pro1143=) c.802T>C c.2691T>C (p.Pro897=) c.3441T>C (p.Pro1147=) c.3447T>C (p.Pro1149=) | |
| 8 | g.115414440A>T | CA462658463 | TRPS1 | c.3468T>A (p.Pro1156=) c.3429T>A (p.Pro1143=) c.802T>A c.2691T>A (p.Pro897=) c.3441T>A (p.Pro1147=) c.3447T>A (p.Pro1149=) | |
| 8 | g.115414441G>A | CA372062682 | TRPS1 | c.3467C>T (p.Pro1156Leu) c.3428C>T (p.Pro1143Leu) c.801C>T c.2690C>T (p.Pro897Leu) c.3440C>T (p.Pro1147Leu) c.3446C>T (p.Pro1149Leu) | |
| 8 | g.115414441G>C | CA372062683 | TRPS1 | c.3467C>G (p.Pro1156Arg) c.3428C>G (p.Pro1143Arg) c.801C>G c.2690C>G (p.Pro897Arg) c.3440C>G (p.Pro1147Arg) c.3446C>G (p.Pro1149Arg) | |
| 8 | g.115414441G>T | CA372062684 | TRPS1 | c.3467C>A (p.Pro1156His) c.3428C>A (p.Pro1143His) c.801C>A c.2690C>A (p.Pro897His) c.3440C>A (p.Pro1147His) c.3446C>A (p.Pro1149His) | |
| 8 | g.115414442G>A | CA372062685 | TRPS1 | c.3466C>T (p.Pro1156Ser) c.3427C>T (p.Pro1143Ser) c.800C>T c.2689C>T (p.Pro897Ser) c.3439C>T (p.Pro1147Ser) c.3445C>T (p.Pro1149Ser) | |
| 8 | g.115414442G>C | CA372062686 | TRPS1 | c.3466C>G (p.Pro1156Ala) c.3427C>G (p.Pro1143Ala) c.800C>G c.2689C>G (p.Pro897Ala) c.3439C>G (p.Pro1147Ala) c.3445C>G (p.Pro1149Ala) | |
| 8 | g.115414442G>T | CA372062687 | TRPS1 | c.3466C>A (p.Pro1156Thr) c.3427C>A (p.Pro1143Thr) c.800C>A c.2689C>A (p.Pro897Thr) c.3439C>A (p.Pro1147Thr) c.3445C>A (p.Pro1149Thr) | |
| 8 | g.115414443C>A | CA462658464 | TRPS1 | c.3465G>T (p.Val1155=) c.3426G>T (p.Val1142=) c.799G>T c.2688G>T (p.Val896=) c.3438G>T (p.Val1146=) c.3444G>T (p.Val1148=) | gnomAD v4 |
| 8 | g.115414443C>G | CA462658465 | TRPS1 | c.3465G>C (p.Val1155=) c.3426G>C (p.Val1142=) c.799G>C c.2688G>C (p.Val896=) c.3438G>C (p.Val1146=) c.3444G>C (p.Val1148=) | |
| 8 | g.115414443C>T | CA462658466 | TRPS1 | c.3465G>A (p.Val1155=) c.3426G>A (p.Val1142=) c.799G>A c.2688G>A (p.Val896=) c.3438G>A (p.Val1146=) c.3444G>A (p.Val1148=) | |
| 8 | g.115414444A>C | CA372062688 | TRPS1 | c.3464T>G (p.Val1155Gly) c.3425T>G (p.Val1142Gly) c.798T>G c.2687T>G (p.Val896Gly) c.3437T>G (p.Val1146Gly) c.3443T>G (p.Val1148Gly) | |
| 8 | g.115414444A>G | CA372062689 | TRPS1 | c.3464T>C (p.Val1155Ala) c.3425T>C (p.Val1142Ala) c.798T>C c.2687T>C (p.Val896Ala) c.3437T>C (p.Val1146Ala) c.3443T>C (p.Val1148Ala) | |
| 8 | g.115414444A>T | CA372062690 | TRPS1 | c.3464T>A (p.Val1155Glu) c.3425T>A (p.Val1142Glu) c.798T>A c.2687T>A (p.Val896Glu) c.3437T>A (p.Val1146Glu) c.3443T>A (p.Val1148Glu) | |
| 8 | g.115414445C>A | CA372062691 | TRPS1 | c.3463G>T (p.Val1155Leu) c.3424G>T (p.Val1142Leu) c.797G>T c.2686G>T (p.Val896Leu) c.3436G>T (p.Val1146Leu) c.3442G>T (p.Val1148Leu) | |
| 8 | g.115414445C= | CA1812853854 | TRPS1 | c.3463G= (p.Val1155=) c.3424G= (p.Val1142=) c.797G= c.2686G= (p.Val896=) c.3436G= (p.Val1146=) c.3442G= (p.Val1148=) | |
| 8 | g.115414445C>G | CA372062692 | TRPS1 | c.3463G>C (p.Val1155Leu) c.3424G>C (p.Val1142Leu) c.797G>C c.2686G>C (p.Val896Leu) c.3436G>C (p.Val1146Leu) c.3442G>C (p.Val1148Leu) | |
| 8 | g.115414445C>T | CA372062693 | TRPS1 | c.3463G>A (p.Val1155Met) c.3424G>A (p.Val1142Met) c.797G>A c.2686G>A (p.Val896Met) c.3436G>A (p.Val1146Met) c.3442G>A (p.Val1148Met) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414446A= | CA1812853856 | TRPS1 | c.3462T= (p.Tyr1154=) c.3423T= (p.Tyr1141=) c.796T= c.2685T= (p.Tyr895=) c.3435T= (p.Tyr1145=) c.3441T= (p.Tyr1147=) | |
| 8 | g.115414446A>C | CA372062695 | TRPS1 | c.3462T>G (p.Tyr1154Ter) c.3423T>G (p.Tyr1141Ter) c.796T>G c.2685T>G (p.Tyr895Ter) c.3435T>G (p.Tyr1145Ter) c.3441T>G (p.Tyr1147Ter) | |
| 8 | g.115414446A>G | CA462658467 | TRPS1 | c.3462T>C (p.Tyr1154=) c.3423T>C (p.Tyr1141=) c.796T>C c.2685T>C (p.Tyr895=) c.3435T>C (p.Tyr1145=) c.3441T>C (p.Tyr1147=) | |
| 8 | g.115414446A>T | CA372062694 | TRPS1 | c.3462T>A (p.Tyr1154Ter) c.3423T>A (p.Tyr1141Ter) c.796T>A c.2685T>A (p.Tyr895Ter) c.3435T>A (p.Tyr1145Ter) c.3441T>A (p.Tyr1147Ter) | |
| 8 | g.115414447T>A | CA372062696 | TRPS1 | c.3461A>T (p.Tyr1154Phe) c.3422A>T (p.Tyr1141Phe) c.795A>T c.2684A>T (p.Tyr895Phe) c.3434A>T (p.Tyr1145Phe) c.3440A>T (p.Tyr1147Phe) | |
| 8 | g.115414447T>C | CA4851485 | TRPS1 | c.3461A>G (p.Tyr1154Cys) c.3422A>G (p.Tyr1141Cys) c.795A>G c.2684A>G (p.Tyr895Cys) c.3434A>G (p.Tyr1145Cys) c.3440A>G (p.Tyr1147Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414447T>G | CA372062697 | TRPS1 | c.3461A>C (p.Tyr1154Ser) c.3422A>C (p.Tyr1141Ser) c.795A>C c.2684A>C (p.Tyr895Ser) c.3434A>C (p.Tyr1145Ser) c.3440A>C (p.Tyr1147Ser) | |
| 8 | g.115414447T= | CA1812853862 | TRPS1 | c.3461A= (p.Tyr1154=) c.3422A= (p.Tyr1141=) c.795A= c.2684A= (p.Tyr895=) c.3434A= (p.Tyr1145=) c.3440A= (p.Tyr1147=) | |
| 8 | g.115414447dup | CA1139660736 | TRPS1 | c.3461dup (p.Tyr1154Ter) c.3422dup (p.Tyr1141Ter) c.795dup c.2684dup (p.Tyr895Ter) c.3434dup (p.Tyr1145Ter) c.3440dup (p.Tyr1147Ter) | ClinVar dbSNP |
| 8 | g.115414448A>C | CA372062698 | TRPS1 | c.3460T>G (p.Tyr1154Asp) c.3421T>G (p.Tyr1141Asp) c.794T>G c.2683T>G (p.Tyr895Asp) c.3433T>G (p.Tyr1145Asp) c.3439T>G (p.Tyr1147Asp) | |
| 8 | g.115414448A>G | CA372062699 | TRPS1 | c.3460T>C (p.Tyr1154His) c.3421T>C (p.Tyr1141His) c.794T>C c.2683T>C (p.Tyr895His) c.3433T>C (p.Tyr1145His) c.3439T>C (p.Tyr1147His) | gnomAD v4 |
| 8 | g.115414448A>T | CA372062700 | TRPS1 | c.3460T>A (p.Tyr1154Asn) c.3421T>A (p.Tyr1141Asn) c.794T>A c.2683T>A (p.Tyr895Asn) c.3433T>A (p.Tyr1145Asn) c.3439T>A (p.Tyr1147Asn) | |
| 8 | g.115414449G>A | CA462658468 | TRPS1 | c.3459C>T (p.Asn1153=) c.3420C>T (p.Asn1140=) c.793C>T c.2682C>T (p.Asn894=) c.3432C>T (p.Asn1144=) c.3438C>T (p.Asn1146=) | dbSNP |
| 8 | g.115414449G>C | CA372062702 | TRPS1 | c.3459C>G (p.Asn1153Lys) c.3420C>G (p.Asn1140Lys) c.793C>G c.2682C>G (p.Asn894Lys) c.3432C>G (p.Asn1144Lys) c.3438C>G (p.Asn1146Lys) | |
| 8 | g.115414449G= | CA1812853865 | TRPS1 | c.3459C= (p.Asn1153=) c.3420C= (p.Asn1140=) c.793C= c.2682C= (p.Asn894=) c.3432C= (p.Asn1144=) c.3438C= (p.Asn1146=) | |
| 8 | g.115414449G>T | CA372062701 | TRPS1 | c.3459C>A (p.Asn1153Lys) c.3420C>A (p.Asn1140Lys) c.793C>A c.2682C>A (p.Asn894Lys) c.3432C>A (p.Asn1144Lys) c.3438C>A (p.Asn1146Lys) | |
| 8 | g.115414450T>A | CA372062703 | TRPS1 | c.3458A>T (p.Asn1153Ile) c.3419A>T (p.Asn1140Ile) c.792A>T c.2681A>T (p.Asn894Ile) c.3431A>T (p.Asn1144Ile) c.3437A>T (p.Asn1146Ile) | |
| 8 | g.115414450T>C | CA372062704 | TRPS1 | c.3458A>G (p.Asn1153Ser) c.3419A>G (p.Asn1140Ser) c.792A>G c.2681A>G (p.Asn894Ser) c.3431A>G (p.Asn1144Ser) c.3437A>G (p.Asn1146Ser) | gnomAD v4 |
| 8 | g.115414450T>G | CA372062705 | TRPS1 | c.3458A>C (p.Asn1153Thr) c.3419A>C (p.Asn1140Thr) c.792A>C c.2681A>C (p.Asn894Thr) c.3431A>C (p.Asn1144Thr) c.3437A>C (p.Asn1146Thr) | |
| 8 | g.115414453del | CA645561862 | TRPS1 | c.3458del (p.Asn1153ThrfsTer25) c.3419del (p.Asn1140ThrfsTer25) c.792del c.2681del (p.Asn894ThrfsTer25) c.3431del (p.Asn1144ThrfsTer25) c.3437del (p.Asn1146ThrfsTer25) | COSMIC COSMIC |