| 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.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 |
| 8 | g.115414451T>A | CA372062706 | TRPS1 | c.3457A>T (p.Asn1153Tyr) c.3418A>T (p.Asn1140Tyr) c.791A>T c.2680A>T (p.Asn894Tyr) c.3430A>T (p.Asn1144Tyr) c.3436A>T (p.Asn1146Tyr) | gnomAD v4 |
| 8 | g.115414451T>C | CA372062707 | TRPS1 | c.3457A>G (p.Asn1153Asp) c.3418A>G (p.Asn1140Asp) c.791A>G c.2680A>G (p.Asn894Asp) c.3430A>G (p.Asn1144Asp) c.3436A>G (p.Asn1146Asp) | |
| 8 | g.115414451T>G | CA372062708 | TRPS1 | c.3457A>C (p.Asn1153His) c.3418A>C (p.Asn1140His) c.791A>C c.2680A>C (p.Asn894His) c.3430A>C (p.Asn1144His) c.3436A>C (p.Asn1146His) | |
| 8 | g.115414452T>A | CA372062709 | TRPS1 | c.3456A>T (p.Gln1152His) c.3417A>T (p.Gln1139His) c.790A>T c.2679A>T (p.Gln893His) c.3429A>T (p.Gln1143His) c.3435A>T (p.Gln1145His) | |
| 8 | g.115414452T>C | CA4851486 | TRPS1 | c.3456A>G (p.Gln1152=) c.3417A>G (p.Gln1139=) c.790A>G c.2679A>G (p.Gln893=) c.3429A>G (p.Gln1143=) c.3435A>G (p.Gln1145=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414452T>G | CA184469530 | TRPS1 | c.3456A>C (p.Gln1152His) c.3417A>C (p.Gln1139His) c.790A>C c.2679A>C (p.Gln893His) c.3429A>C (p.Gln1143His) c.3435A>C (p.Gln1145His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414452T= | CA1812853867 | TRPS1 | c.3456A= (p.Gln1152=) c.3417A= (p.Gln1139=) c.790A= c.2679A= (p.Gln893=) c.3429A= (p.Gln1143=) c.3435A= (p.Gln1145=) | |
| 8 | g.115414453T>A | CA372062710 | TRPS1 | c.3455A>T (p.Gln1152Leu) c.3416A>T (p.Gln1139Leu) c.789A>T c.2678A>T (p.Gln893Leu) c.3428A>T (p.Gln1143Leu) c.3434A>T (p.Gln1145Leu) | |
| 8 | g.115414453T>C | CA372062711 | TRPS1 | c.3455A>G (p.Gln1152Arg) c.3416A>G (p.Gln1139Arg) c.789A>G c.2678A>G (p.Gln893Arg) c.3428A>G (p.Gln1143Arg) c.3434A>G (p.Gln1145Arg) | |
| 8 | g.115414453T>G | CA372062712 | TRPS1 | c.3455A>C (p.Gln1152Pro) c.3416A>C (p.Gln1139Pro) c.789A>C c.2678A>C (p.Gln893Pro) c.3428A>C (p.Gln1143Pro) c.3434A>C (p.Gln1145Pro) | |
| 8 | g.115414454G>A | CA372062713 | TRPS1 | c.3454C>T (p.Gln1152Ter) c.3415C>T (p.Gln1139Ter) c.788C>T c.2677C>T (p.Gln893Ter) c.3427C>T (p.Gln1143Ter) c.3433C>T (p.Gln1145Ter) | |
| 8 | g.115414454G>C | CA372062714 | TRPS1 | c.3454C>G (p.Gln1152Glu) c.3415C>G (p.Gln1139Glu) c.788C>G c.2677C>G (p.Gln893Glu) c.3427C>G (p.Gln1143Glu) c.3433C>G (p.Gln1145Glu) | |
| 8 | g.115414454G>T | CA372062715 | TRPS1 | c.3454C>A (p.Gln1152Lys) c.3415C>A (p.Gln1139Lys) c.788C>A c.2677C>A (p.Gln893Lys) c.3427C>A (p.Gln1143Lys) c.3433C>A (p.Gln1145Lys) | |
| 8 | g.115414455G>A | CA462658469 | TRPS1 | c.3453C>T (p.Cys1151=) c.3414C>T (p.Cys1138=) c.787C>T c.2676C>T (p.Cys892=) c.3426C>T (p.Cys1142=) c.3432C>T (p.Cys1144=) | |
| 8 | g.115414455G>C | CA372062716 | TRPS1 | c.3453C>G (p.Cys1151Trp) c.3414C>G (p.Cys1138Trp) c.787C>G c.2676C>G (p.Cys892Trp) c.3426C>G (p.Cys1142Trp) c.3432C>G (p.Cys1144Trp) | |
| 8 | g.115414455G>T | CA372062717 | TRPS1 | c.3453C>A (p.Cys1151Ter) c.3414C>A (p.Cys1138Ter) c.787C>A c.2676C>A (p.Cys892Ter) c.3426C>A (p.Cys1142Ter) c.3432C>A (p.Cys1144Ter) | |
| 8 | g.115414456C>A | CA372062718 | TRPS1 | c.3452G>T (p.Cys1151Phe) c.3413G>T (p.Cys1138Phe) c.786G>T c.2675G>T (p.Cys892Phe) c.3425G>T (p.Cys1142Phe) c.3431G>T (p.Cys1144Phe) | |
| 8 | g.115414456C>G | CA372062719 | TRPS1 | c.3452G>C (p.Cys1151Ser) c.3413G>C (p.Cys1138Ser) c.786G>C c.2675G>C (p.Cys892Ser) c.3425G>C (p.Cys1142Ser) c.3431G>C (p.Cys1144Ser) | |
| 8 | g.115414456C>T | CA372062720 | TRPS1 | c.3452G>A (p.Cys1151Tyr) c.3413G>A (p.Cys1138Tyr) c.786G>A c.2675G>A (p.Cys892Tyr) c.3425G>A (p.Cys1142Tyr) c.3431G>A (p.Cys1144Tyr) | gnomAD v4 |
| 8 | g.115414457A>C | CA372062723 | TRPS1 | c.3451T>G (p.Cys1151Gly) c.3412T>G (p.Cys1138Gly) c.785T>G c.2674T>G (p.Cys892Gly) c.3424T>G (p.Cys1142Gly) c.3430T>G (p.Cys1144Gly) | COSMIC COSMIC |
| 8 | g.115414457A>G | CA372062722 | TRPS1 | c.3451T>C (p.Cys1151Arg) c.3412T>C (p.Cys1138Arg) c.785T>C c.2674T>C (p.Cys892Arg) c.3424T>C (p.Cys1142Arg) c.3430T>C (p.Cys1144Arg) | |
| 8 | g.115414457A>T | CA372062721 | TRPS1 | c.3451T>A (p.Cys1151Ser) c.3412T>A (p.Cys1138Ser) c.785T>A c.2674T>A (p.Cys892Ser) c.3424T>A (p.Cys1142Ser) c.3430T>A (p.Cys1144Ser) | |
| 8 | g.115414458A= | CA1812853870 | TRPS1 | c.3450T= (p.Pro1150=) c.3411T= (p.Pro1137=) c.784T= c.2673T= (p.Pro891=) c.3423T= (p.Pro1141=) c.3429T= (p.Pro1143=) | |
| 8 | g.115414458A>C | CA462658470 | TRPS1 | c.3450T>G (p.Pro1150=) c.3411T>G (p.Pro1137=) c.784T>G c.2673T>G (p.Pro891=) c.3423T>G (p.Pro1141=) c.3429T>G (p.Pro1143=) | |
| 8 | g.115414458A>G | CA462658471 | TRPS1 | c.3450T>C (p.Pro1150=) c.3411T>C (p.Pro1137=) c.784T>C c.2673T>C (p.Pro891=) c.3423T>C (p.Pro1141=) c.3429T>C (p.Pro1143=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414458A>T | CA462658472 | TRPS1 | c.3450T>A (p.Pro1150=) c.3411T>A (p.Pro1137=) c.784T>A c.2673T>A (p.Pro891=) c.3423T>A (p.Pro1141=) c.3429T>A (p.Pro1143=) | |
| 8 | g.115414459G>A | CA372062724 | TRPS1 | c.3449C>T (p.Pro1150Leu) c.3410C>T (p.Pro1137Leu) c.783C>T c.2672C>T (p.Pro891Leu) c.3422C>T (p.Pro1141Leu) c.3428C>T (p.Pro1143Leu) | |
| 8 | g.115414459G>C | CA372062726 | TRPS1 | c.3449C>G (p.Pro1150Arg) c.3410C>G (p.Pro1137Arg) c.783C>G c.2672C>G (p.Pro891Arg) c.3422C>G (p.Pro1141Arg) c.3428C>G (p.Pro1143Arg) | |
| 8 | g.115414459G>T | CA372062725 | TRPS1 | c.3449C>A (p.Pro1150His) c.3410C>A (p.Pro1137His) c.783C>A c.2672C>A (p.Pro891His) c.3422C>A (p.Pro1141His) c.3428C>A (p.Pro1143His) | |
| 8 | g.115414460G>A | CA372062727 | TRPS1 | c.3448C>T (p.Pro1150Ser) c.3409C>T (p.Pro1137Ser) c.782C>T c.2671C>T (p.Pro891Ser) c.3421C>T (p.Pro1141Ser) c.3427C>T (p.Pro1143Ser) | |
| 8 | g.115414460G>C | CA372062729 | TRPS1 | c.3448C>G (p.Pro1150Ala) c.3409C>G (p.Pro1137Ala) c.782C>G c.2671C>G (p.Pro891Ala) c.3421C>G (p.Pro1141Ala) c.3427C>G (p.Pro1143Ala) | |
| 8 | g.115414460G>T | CA372062728 | TRPS1 | c.3448C>A (p.Pro1150Thr) c.3409C>A (p.Pro1137Thr) c.782C>A c.2671C>A (p.Pro891Thr) c.3421C>A (p.Pro1141Thr) c.3427C>A (p.Pro1143Thr) | |
| 8 | g.115414461A= | CA1812853873 | TRPS1 | c.3447T= (p.Asn1149=) c.3408T= (p.Asn1136=) c.781T= c.2670T= (p.Asn890=) c.3420T= (p.Asn1140=) c.3426T= (p.Asn1142=) | |
| 8 | g.115414461A>C | CA372062730 | TRPS1 | c.3447T>G (p.Asn1149Lys) c.3408T>G (p.Asn1136Lys) c.781T>G c.2670T>G (p.Asn890Lys) c.3420T>G (p.Asn1140Lys) c.3426T>G (p.Asn1142Lys) | |
| 8 | g.115414461A>G | CA184469533 | TRPS1 | c.3447T>C (p.Asn1149=) c.3408T>C (p.Asn1136=) c.781T>C c.2670T>C (p.Asn890=) c.3420T>C (p.Asn1140=) c.3426T>C (p.Asn1142=) | dbSNP |
| 8 | g.115414461A>T | CA372062731 | TRPS1 | c.3447T>A (p.Asn1149Lys) c.3408T>A (p.Asn1136Lys) c.781T>A c.2670T>A (p.Asn890Lys) c.3420T>A (p.Asn1140Lys) c.3426T>A (p.Asn1142Lys) | gnomAD v4 |
| 8 | g.115414462T>A | CA372062732 | TRPS1 | c.3446A>T (p.Asn1149Ile) c.3407A>T (p.Asn1136Ile) c.780A>T c.2669A>T (p.Asn890Ile) c.3419A>T (p.Asn1140Ile) c.3425A>T (p.Asn1142Ile) | |
| 8 | g.115414462T>C | CA372062734 | TRPS1 | c.3446A>G (p.Asn1149Ser) c.3407A>G (p.Asn1136Ser) c.780A>G c.2669A>G (p.Asn890Ser) c.3419A>G (p.Asn1140Ser) c.3425A>G (p.Asn1142Ser) | |
| 8 | g.115414462T>G | CA372062733 | TRPS1 | c.3446A>C (p.Asn1149Thr) c.3407A>C (p.Asn1136Thr) c.780A>C c.2669A>C (p.Asn890Thr) c.3419A>C (p.Asn1140Thr) c.3425A>C (p.Asn1142Thr) | |
| 8 | g.115414463T>A | CA372062735 | TRPS1 | c.3445A>T (p.Asn1149Tyr) c.3406A>T (p.Asn1136Tyr) c.779A>T c.2668A>T (p.Asn890Tyr) c.3418A>T (p.Asn1140Tyr) c.3424A>T (p.Asn1142Tyr) | |
| 8 | g.115414463T>C | CA372062736 | TRPS1 | c.3445A>G (p.Asn1149Asp) c.3406A>G (p.Asn1136Asp) c.779A>G c.2668A>G (p.Asn890Asp) c.3418A>G (p.Asn1140Asp) c.3424A>G (p.Asn1142Asp) | |
| 8 | g.115414463T>G | CA372062737 | TRPS1 | c.3445A>C (p.Asn1149His) c.3406A>C (p.Asn1136His) c.779A>C c.2668A>C (p.Asn890His) c.3418A>C (p.Asn1140His) c.3424A>C (p.Asn1142His) | |
| 8 | g.115414464T>A | CA462658159 | TRPS1 | c.3444A>T (p.Pro1148=) c.3405A>T (p.Pro1135=) c.778A>T c.2667A>T (p.Pro889=) c.3417A>T (p.Pro1139=) c.3423A>T (p.Pro1141=) | |
| 8 | g.115414464T>C | CA462658160 | TRPS1 | c.3444A>G (p.Pro1148=) c.3405A>G (p.Pro1135=) c.778A>G c.2667A>G (p.Pro889=) c.3417A>G (p.Pro1139=) c.3423A>G (p.Pro1141=) | |
| 8 | g.115414464T>G | CA462658161 | TRPS1 | c.3444A>C (p.Pro1148=) c.3405A>C (p.Pro1135=) c.778A>C c.2667A>C (p.Pro889=) c.3417A>C (p.Pro1139=) c.3423A>C (p.Pro1141=) | |
| 8 | g.115414465G>A | CA372062738 | TRPS1 | c.3443C>T (p.Pro1148Leu) c.3404C>T (p.Pro1135Leu) c.777C>T c.2666C>T (p.Pro889Leu) c.3416C>T (p.Pro1139Leu) c.3422C>T (p.Pro1141Leu) | |
| 8 | g.115414465G>C | CA184469539 | TRPS1 | c.3443C>G (p.Pro1148Arg) c.3404C>G (p.Pro1135Arg) c.777C>G c.2666C>G (p.Pro889Arg) c.3416C>G (p.Pro1139Arg) c.3422C>G (p.Pro1141Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.115414465G= | CA1812853875 | TRPS1 | c.3443C= (p.Pro1148=) c.3404C= (p.Pro1135=) c.777C= c.2666C= (p.Pro889=) c.3416C= (p.Pro1139=) c.3422C= (p.Pro1141=) | |
| 8 | g.115414465G>T | CA372062739 | TRPS1 | c.3443C>A (p.Pro1148Gln) c.3404C>A (p.Pro1135Gln) c.777C>A c.2666C>A (p.Pro889Gln) c.3416C>A (p.Pro1139Gln) c.3422C>A (p.Pro1141Gln) | |
| 8 | g.115414466dup | CA2781846494 | TRPS1 | c.3443dup (p.Asn1149LysfsTer26) c.3404dup (p.Asn1136LysfsTer26) c.777dup c.2666dup (p.Asn890LysfsTer26) c.3416dup (p.Asn1140LysfsTer26) c.3422dup (p.Asn1142LysfsTer26) | |
| 8 | g.115414466G>A | CA372062740 | TRPS1 | c.3442C>T (p.Pro1148Ser) c.3403C>T (p.Pro1135Ser) c.776C>T c.2665C>T (p.Pro889Ser) c.3415C>T (p.Pro1139Ser) c.3421C>T (p.Pro1141Ser) | |
| 8 | g.115414466G>C | CA372062741 | TRPS1 | c.3442C>G (p.Pro1148Ala) c.3403C>G (p.Pro1135Ala) c.776C>G c.2665C>G (p.Pro889Ala) c.3415C>G (p.Pro1139Ala) c.3421C>G (p.Pro1141Ala) | |
| 8 | g.115414466G>T | CA372062742 | TRPS1 | c.3442C>A (p.Pro1148Thr) c.3403C>A (p.Pro1135Thr) c.776C>A c.2665C>A (p.Pro889Thr) c.3415C>A (p.Pro1139Thr) c.3421C>A (p.Pro1141Thr) | |
| 8 | g.115414467T>A | CA462658162 | TRPS1 | c.3441A>T (p.Leu1147=) c.3402A>T (p.Leu1134=) c.775A>T c.2664A>T (p.Leu888=) c.3414A>T (p.Leu1138=) c.3420A>T (p.Leu1140=) | |
| 8 | g.115414467T>C | CA462658163 | TRPS1 | c.3441A>G (p.Leu1147=) c.3402A>G (p.Leu1134=) c.775A>G c.2664A>G (p.Leu888=) c.3414A>G (p.Leu1138=) c.3420A>G (p.Leu1140=) | dbSNP gnomAD v4 |
| 8 | g.115414467T>G | CA462658164 | TRPS1 | c.3441A>C (p.Leu1147=) c.3402A>C (p.Leu1134=) c.775A>C c.2664A>C (p.Leu888=) c.3414A>C (p.Leu1138=) c.3420A>C (p.Leu1140=) | |
| 8 | g.115414467T= | CA1812853879 | TRPS1 | c.3441A= (p.Leu1147=) c.3402A= (p.Leu1134=) c.775A= c.2664A= (p.Leu888=) c.3414A= (p.Leu1138=) c.3420A= (p.Leu1140=) | |
| 8 | g.115414468A>C | CA372062745 | TRPS1 | c.3440T>G (p.Leu1147Arg) c.3401T>G (p.Leu1134Arg) c.774T>G c.2663T>G (p.Leu888Arg) c.3413T>G (p.Leu1138Arg) c.3419T>G (p.Leu1140Arg) | |
| 8 | g.115414468A>G | CA372062744 | TRPS1 | c.3440T>C (p.Leu1147Pro) c.3401T>C (p.Leu1134Pro) c.774T>C c.2663T>C (p.Leu888Pro) c.3413T>C (p.Leu1138Pro) c.3419T>C (p.Leu1140Pro) | |
| 8 | g.115414468A>T | CA372062743 | TRPS1 | c.3440T>A (p.Leu1147Gln) c.3401T>A (p.Leu1134Gln) c.774T>A c.2663T>A (p.Leu888Gln) c.3413T>A (p.Leu1138Gln) c.3419T>A (p.Leu1140Gln) | |
| 8 | g.115414469G>A | CA462658168 | TRPS1 | c.3439C>T (p.Leu1147=) c.3400C>T (p.Leu1134=) c.773C>T c.2662C>T (p.Leu888=) c.3412C>T (p.Leu1138=) c.3418C>T (p.Leu1140=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414469G>C | CA372062746 | TRPS1 | c.3439C>G (p.Leu1147Val) c.3400C>G (p.Leu1134Val) c.773C>G c.2662C>G (p.Leu888Val) c.3412C>G (p.Leu1138Val) c.3418C>G (p.Leu1140Val) | |
| 8 | g.115414469G= | CA1812853882 | TRPS1 | c.3439C= (p.Leu1147=) c.3400C= (p.Leu1134=) c.773C= c.2662C= (p.Leu888=) c.3412C= (p.Leu1138=) c.3418C= (p.Leu1140=) | |
| 8 | g.115414469G>T | CA372062747 | TRPS1 | c.3439C>A (p.Leu1147Ile) c.3400C>A (p.Leu1134Ile) c.773C>A c.2662C>A (p.Leu888Ile) c.3412C>A (p.Leu1138Ile) c.3418C>A (p.Leu1140Ile) | |
| 8 | g.115414470G>A | CA462658171 | TRPS1 | c.3438C>T (p.Gly1146=) c.3399C>T (p.Gly1133=) c.772C>T c.2661C>T (p.Gly887=) c.3411C>T (p.Gly1137=) c.3417C>T (p.Gly1139=) | |
| 8 | g.115414470G>C | CA462658169 | TRPS1 | c.3438C>G (p.Gly1146=) c.3399C>G (p.Gly1133=) c.772C>G c.2661C>G (p.Gly887=) c.3411C>G (p.Gly1137=) c.3417C>G (p.Gly1139=) | |
| 8 | g.115414470G>T | CA462658170 | TRPS1 | c.3438C>A (p.Gly1146=) c.3399C>A (p.Gly1133=) c.772C>A c.2661C>A (p.Gly887=) c.3411C>A (p.Gly1137=) c.3417C>A (p.Gly1139=) | |
| 8 | g.115414471C>A | CA372062748 | TRPS1 | c.3437G>T (p.Gly1146Val) c.3398G>T (p.Gly1133Val) c.771G>T c.2660G>T (p.Gly887Val) c.3410G>T (p.Gly1137Val) c.3416G>T (p.Gly1139Val) | |
| 8 | g.115414471C= | CA1812853885 | TRPS1 | c.3437G= (p.Gly1146=) c.3398G= (p.Gly1133=) c.771G= c.2660G= (p.Gly887=) c.3410G= (p.Gly1137=) c.3416G= (p.Gly1139=) | |
| 8 | g.115414471C>G | CA372062749 | TRPS1 | c.3437G>C (p.Gly1146Ala) c.3398G>C (p.Gly1133Ala) c.771G>C c.2660G>C (p.Gly887Ala) c.3410G>C (p.Gly1137Ala) c.3416G>C (p.Gly1139Ala) | |
| 8 | g.115414471C>T | CA372062750 | TRPS1 | c.3437G>A (p.Gly1146Asp) c.3398G>A (p.Gly1133Asp) c.771G>A c.2660G>A (p.Gly887Asp) c.3410G>A (p.Gly1137Asp) c.3416G>A (p.Gly1139Asp) | dbSNP |
| 8 | g.115414472C>A | CA372062751 | TRPS1 | c.3436G>T (p.Gly1146Cys) c.3397G>T (p.Gly1133Cys) c.770G>T c.2659G>T (p.Gly887Cys) c.3409G>T (p.Gly1137Cys) c.3415G>T (p.Gly1139Cys) | |
| 8 | g.115414472C>G | CA372062752 | TRPS1 | c.3436G>C (p.Gly1146Arg) c.3397G>C (p.Gly1133Arg) c.770G>C c.2659G>C (p.Gly887Arg) c.3409G>C (p.Gly1137Arg) c.3415G>C (p.Gly1139Arg) | |
| 8 | g.115414472C>T | CA372062753 | TRPS1 | c.3436G>A (p.Gly1146Ser) c.3397G>A (p.Gly1133Ser) c.770G>A c.2659G>A (p.Gly887Ser) c.3409G>A (p.Gly1137Ser) c.3415G>A (p.Gly1139Ser) | |
| 8 | g.115414473del | CA2718161152 | TRPS1 | c.3435del (p.Gly1146AlafsTer?) c.3396del (p.Gly1133AlafsTer?) c.769del c.2658del (p.Gly887AlafsTer?) c.3408del (p.Gly1137AlafsTer?) c.3414del (p.Gly1139AlafsTer?) | dbSNP |
| 8 | g.115414473A>C | CA462658172 | TRPS1 | c.3435T>G (p.Pro1145=) c.3396T>G (p.Pro1132=) c.769T>G c.2658T>G (p.Pro886=) c.3408T>G (p.Pro1136=) c.3414T>G (p.Pro1138=) | |
| 8 | g.115414473A>G | CA462658174 | TRPS1 | c.3435T>C (p.Pro1145=) c.3396T>C (p.Pro1132=) c.769T>C c.2658T>C (p.Pro886=) c.3408T>C (p.Pro1136=) c.3414T>C (p.Pro1138=) | |
| 8 | g.115414473A>T | CA462658175 | TRPS1 | c.3435T>A (p.Pro1145=) c.3396T>A (p.Pro1132=) c.769T>A c.2658T>A (p.Pro886=) c.3408T>A (p.Pro1136=) c.3414T>A (p.Pro1138=) | |
| 8 | g.115414474G>A | CA372062754 | TRPS1 | c.3434C>T (p.Pro1145Leu) c.3395C>T (p.Pro1132Leu) c.768C>T c.2657C>T (p.Pro886Leu) c.3407C>T (p.Pro1136Leu) c.3413C>T (p.Pro1138Leu) | gnomAD v4 |
| 8 | g.115414474G>C | CA372062755 | TRPS1 | c.3434C>G (p.Pro1145Arg) c.3395C>G (p.Pro1132Arg) c.768C>G c.2657C>G (p.Pro886Arg) c.3407C>G (p.Pro1136Arg) c.3413C>G (p.Pro1138Arg) | |
| 8 | g.115414474G>T | CA372062756 | TRPS1 | c.3434C>A (p.Pro1145His) c.3395C>A (p.Pro1132His) c.768C>A c.2657C>A (p.Pro886His) c.3407C>A (p.Pro1136His) c.3413C>A (p.Pro1138His) | |
| 8 | g.115414475G>A | CA372062758 | TRPS1 | c.3433C>T (p.Pro1145Ser) c.3394C>T (p.Pro1132Ser) c.767C>T c.2656C>T (p.Pro886Ser) c.3406C>T (p.Pro1136Ser) c.3412C>T (p.Pro1138Ser) | |
| 8 | g.115414475G>C | CA372062759 | TRPS1 | c.3433C>G (p.Pro1145Ala) c.3394C>G (p.Pro1132Ala) c.767C>G c.2656C>G (p.Pro886Ala) c.3406C>G (p.Pro1136Ala) c.3412C>G (p.Pro1138Ala) | |
| 8 | g.115414475G>T | CA372062757 | TRPS1 | c.3433C>A (p.Pro1145Thr) c.3394C>A (p.Pro1132Thr) c.767C>A c.2656C>A (p.Pro886Thr) c.3406C>A (p.Pro1136Thr) c.3412C>A (p.Pro1138Thr) | |
| 8 | g.115414476C>A | CA462658176 | TRPS1 | c.3432G>T (p.Val1144=) c.3393G>T (p.Val1131=) c.766G>T c.2655G>T (p.Val885=) c.3405G>T (p.Val1135=) c.3411G>T (p.Val1137=) | |
| 8 | g.115414476C>G | CA462658177 | TRPS1 | c.3432G>C (p.Val1144=) c.3393G>C (p.Val1131=) c.766G>C c.2655G>C (p.Val885=) c.3405G>C (p.Val1135=) c.3411G>C (p.Val1137=) | |
| 8 | g.115414476C>T | CA462658178 | TRPS1 | c.3432G>A (p.Val1144=) c.3393G>A (p.Val1131=) c.766G>A c.2655G>A (p.Val885=) c.3405G>A (p.Val1135=) c.3411G>A (p.Val1137=) | COSMIC COSMIC |
| 8 | g.115414477A>C | CA372062760 | TRPS1 | c.3431T>G (p.Val1144Gly) c.3392T>G (p.Val1131Gly) c.765T>G c.2654T>G (p.Val885Gly) c.3404T>G (p.Val1135Gly) c.3410T>G (p.Val1137Gly) | |
| 8 | g.115414477A>G | CA372062761 | TRPS1 | c.3431T>C (p.Val1144Ala) c.3392T>C (p.Val1131Ala) c.765T>C c.2654T>C (p.Val885Ala) c.3404T>C (p.Val1135Ala) c.3410T>C (p.Val1137Ala) | |
| 8 | g.115414477A>T | CA372062762 | TRPS1 | c.3431T>A (p.Val1144Glu) c.3392T>A (p.Val1131Glu) c.765T>A c.2654T>A (p.Val885Glu) c.3404T>A (p.Val1135Glu) c.3410T>A (p.Val1137Glu) | |
| 8 | g.115414478C>A | CA372062763 | TRPS1 | c.3430G>T (p.Val1144Leu) c.3391G>T (p.Val1131Leu) c.764G>T c.2653G>T (p.Val885Leu) c.3403G>T (p.Val1135Leu) c.3409G>T (p.Val1137Leu) | |
| 8 | g.115414478C= | CA1812853891 | TRPS1 | c.3430G= (p.Val1144=) c.3391G= (p.Val1131=) c.764G= c.2653G= (p.Val885=) c.3403G= (p.Val1135=) c.3409G= (p.Val1137=) | |
| 8 | g.115414478C>G | CA372062764 | TRPS1 | c.3430G>C (p.Val1144Leu) c.3391G>C (p.Val1131Leu) c.764G>C c.2653G>C (p.Val885Leu) c.3403G>C (p.Val1135Leu) c.3409G>C (p.Val1137Leu) | |
| 8 | g.115414478C>T | CA372062765 | TRPS1 | c.3430G>A (p.Val1144Met) c.3391G>A (p.Val1131Met) c.764G>A c.2653G>A (p.Val885Met) c.3403G>A (p.Val1135Met) c.3409G>A (p.Val1137Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414479G>A | CA4851487 | TRPS1 | c.3429C>T (p.His1143=) c.3390C>T (p.His1130=) c.763C>T c.2652C>T (p.His884=) c.3402C>T (p.His1134=) c.3408C>T (p.His1136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414479G>C | CA184469551 | TRPS1 | c.3429C>G (p.His1143Gln) c.3390C>G (p.His1130Gln) c.763C>G c.2652C>G (p.His884Gln) c.3402C>G (p.His1134Gln) c.3408C>G (p.His1136Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414479G= | CA1812853895 | TRPS1 | c.3429C= (p.His1143=) c.3390C= (p.His1130=) c.763C= c.2652C= (p.His884=) c.3402C= (p.His1134=) c.3408C= (p.His1136=) | |
| 8 | g.115414479G>T | CA372062766 | TRPS1 | c.3429C>A (p.His1143Gln) c.3390C>A (p.His1130Gln) c.763C>A c.2652C>A (p.His884Gln) c.3402C>A (p.His1134Gln) c.3408C>A (p.His1136Gln) | |
| 8 | g.115414480T>A | CA372062767 | TRPS1 | c.3428A>T (p.His1143Leu) c.3389A>T (p.His1130Leu) c.762A>T c.2651A>T (p.His884Leu) c.3401A>T (p.His1134Leu) c.3407A>T (p.His1136Leu) | COSMIC COSMIC |
| 8 | g.115414480T>C | CA372062768 | TRPS1 | c.3428A>G (p.His1143Arg) c.3389A>G (p.His1130Arg) c.762A>G c.2651A>G (p.His884Arg) c.3401A>G (p.His1134Arg) c.3407A>G (p.His1136Arg) | |
| 8 | g.115414480T>G | CA372062769 | TRPS1 | c.3428A>C (p.His1143Pro) c.3389A>C (p.His1130Pro) c.762A>C c.2651A>C (p.His884Pro) c.3401A>C (p.His1134Pro) c.3407A>C (p.His1136Pro) | |
| 8 | g.115414481G>A | CA372062772 | TRPS1 | c.3427C>T (p.His1143Tyr) c.3388C>T (p.His1130Tyr) c.761C>T c.2650C>T (p.His884Tyr) c.3400C>T (p.His1134Tyr) c.3406C>T (p.His1136Tyr) | |
| 8 | g.115414481G>C | CA372062770 | TRPS1 | c.3427C>G (p.His1143Asp) c.3388C>G (p.His1130Asp) c.761C>G c.2650C>G (p.His884Asp) c.3400C>G (p.His1134Asp) c.3406C>G (p.His1136Asp) | gnomAD v4 |
| 8 | g.115414481G>T | CA372062771 | TRPS1 | c.3427C>A (p.His1143Asn) c.3388C>A (p.His1130Asn) c.761C>A c.2650C>A (p.His884Asn) c.3400C>A (p.His1134Asn) c.3406C>A (p.His1136Asn) | |
| 8 | g.115414482A= | CA1812853898 | TRPS1 | c.3426T= (p.Ser1142=) c.3387T= (p.Ser1129=) c.760T= c.2649T= (p.Ser883=) c.3399T= (p.Ser1133=) c.3405T= (p.Ser1135=) | |
| 8 | g.115414482A>C | CA372062773 | TRPS1 | c.3426T>G (p.Ser1142Arg) c.3387T>G (p.Ser1129Arg) c.760T>G c.2649T>G (p.Ser883Arg) c.3399T>G (p.Ser1133Arg) c.3405T>G (p.Ser1135Arg) | |
| 8 | g.115414482A>G | CA462658182 | TRPS1 | c.3426T>C (p.Ser1142=) c.3387T>C (p.Ser1129=) c.760T>C c.2649T>C (p.Ser883=) c.3399T>C (p.Ser1133=) c.3405T>C (p.Ser1135=) | dbSNP |
| 8 | g.115414482A>T | CA372062774 | TRPS1 | c.3426T>A (p.Ser1142Arg) c.3387T>A (p.Ser1129Arg) c.760T>A c.2649T>A (p.Ser883Arg) c.3399T>A (p.Ser1133Arg) c.3405T>A (p.Ser1135Arg) | |
| 8 | g.115414483C>A | CA372062775 | TRPS1 | c.3425G>T (p.Ser1142Ile) c.3386G>T (p.Ser1129Ile) c.759G>T c.2648G>T (p.Ser883Ile) c.3398G>T (p.Ser1133Ile) c.3404G>T (p.Ser1135Ile) | dbSNP |
| 8 | g.115414483C= | CA1812853900 | TRPS1 | c.3425G= (p.Ser1142=) c.3386G= (p.Ser1129=) c.759G= c.2648G= (p.Ser883=) c.3398G= (p.Ser1133=) c.3404G= (p.Ser1135=) | |
| 8 | g.115414483C>G | CA372062776 | TRPS1 | c.3425G>C (p.Ser1142Thr) c.3386G>C (p.Ser1129Thr) c.759G>C c.2648G>C (p.Ser883Thr) c.3398G>C (p.Ser1133Thr) c.3404G>C (p.Ser1135Thr) | |
| 8 | g.115414483C>T | CA372062777 | TRPS1 | c.3425G>A (p.Ser1142Asn) c.3386G>A (p.Ser1129Asn) c.759G>A c.2648G>A (p.Ser883Asn) c.3398G>A (p.Ser1133Asn) c.3404G>A (p.Ser1135Asn) | dbSNP |
| 8 | g.115414483_115414484delinsCT | CA1812853901 | TRPS1 | c.3424_3425delinsAG (p.Ser1142=) c.3385_3386delinsAG (p.Ser1129=) c.758_759delinsAG c.2647_2648delinsAG (p.Ser883=) c.3397_3398delinsAG (p.Ser1133=) c.3403_3404delinsAG (p.Ser1135=) | |
| 8 | g.115414484del | CA645509473 | TRPS1 | c.3424del (p.Ser1142ValfsTer?) c.3385del (p.Ser1129ValfsTer?) c.758del c.2647del (p.Ser883ValfsTer?) c.3397del (p.Ser1133ValfsTer?) c.3403del (p.Ser1135ValfsTer?) | ClinVar dbSNP |
| 8 | g.115414484T>A | CA372062778 | TRPS1 | c.3424A>T (p.Ser1142Cys) c.3385A>T (p.Ser1129Cys) c.758A>T c.2647A>T (p.Ser883Cys) c.3397A>T (p.Ser1133Cys) c.3403A>T (p.Ser1135Cys) | |
| 8 | g.115414484T>C | CA372062779 | TRPS1 | c.3424A>G (p.Ser1142Gly) c.3385A>G (p.Ser1129Gly) c.758A>G c.2647A>G (p.Ser883Gly) c.3397A>G (p.Ser1133Gly) c.3403A>G (p.Ser1135Gly) | gnomAD v4 |
| 8 | g.115414484T>G | CA4851488 | TRPS1 | c.3424A>C (p.Ser1142Arg) c.3385A>C (p.Ser1129Arg) c.758A>C c.2647A>C (p.Ser883Arg) c.3397A>C (p.Ser1133Arg) c.3403A>C (p.Ser1135Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414484T= | CA1812853907 | TRPS1 | c.3424A= (p.Ser1142=) c.3385A= (p.Ser1129=) c.758A= c.2647A= (p.Ser883=) c.3397A= (p.Ser1133=) c.3403A= (p.Ser1135=) | |
| 8 | g.115414485C>A | CA372062780 | TRPS1 | c.3423G>T (p.Leu1141Phe) c.3384G>T (p.Leu1128Phe) c.757G>T c.2646G>T (p.Leu882Phe) c.3396G>T (p.Leu1132Phe) c.3402G>T (p.Leu1134Phe) | |
| 8 | g.115414485C>G | CA372062781 | TRPS1 | c.3423G>C (p.Leu1141Phe) c.3384G>C (p.Leu1128Phe) c.757G>C c.2646G>C (p.Leu882Phe) c.3396G>C (p.Leu1132Phe) c.3402G>C (p.Leu1134Phe) | |
| 8 | g.115414485C>T | CA462658184 | TRPS1 | c.3423G>A (p.Leu1141=) c.3384G>A (p.Leu1128=) c.757G>A c.2646G>A (p.Leu882=) c.3396G>A (p.Leu1132=) c.3402G>A (p.Leu1134=) | gnomAD v4 |
| 8 | g.115414486A>C | CA372062782 | TRPS1 | c.3422T>G (p.Leu1141Trp) c.3383T>G (p.Leu1128Trp) c.756T>G c.2645T>G (p.Leu882Trp) c.3395T>G (p.Leu1132Trp) c.3401T>G (p.Leu1134Trp) | |
| 8 | g.115414486A>G | CA372062783 | TRPS1 | c.3422T>C (p.Leu1141Ser) c.3383T>C (p.Leu1128Ser) c.756T>C c.2645T>C (p.Leu882Ser) c.3395T>C (p.Leu1132Ser) c.3401T>C (p.Leu1134Ser) | |
| 8 | g.115414486A>T | CA372062784 | TRPS1 | c.3422T>A (p.Leu1141Ter) c.3383T>A (p.Leu1128Ter) c.756T>A c.2645T>A (p.Leu882Ter) c.3395T>A (p.Leu1132Ter) c.3401T>A (p.Leu1134Ter) | |
| 8 | g.115414487A>C | CA372062786 | TRPS1 | c.3421T>G (p.Leu1141Val) c.3382T>G (p.Leu1128Val) c.755T>G c.2644T>G (p.Leu882Val) c.3394T>G (p.Leu1132Val) c.3400T>G (p.Leu1134Val) | |
| 8 | g.115414487A>G | CA462658186 | TRPS1 | c.3421T>C (p.Leu1141=) c.3382T>C (p.Leu1128=) c.755T>C c.2644T>C (p.Leu882=) c.3394T>C (p.Leu1132=) c.3400T>C (p.Leu1134=) | gnomAD v4 |
| 8 | g.115414487A>T | CA372062785 | TRPS1 | c.3421T>A (p.Leu1141Met) c.3382T>A (p.Leu1128Met) c.755T>A c.2644T>A (p.Leu882Met) c.3394T>A (p.Leu1132Met) c.3400T>A (p.Leu1134Met) | |
| 8 | g.115414488G>A | CA462658187 | TRPS1 | c.3420C>T (p.Tyr1140=) c.3381C>T (p.Tyr1127=) c.754C>T c.2643C>T (p.Tyr881=) c.3393C>T (p.Tyr1131=) c.3399C>T (p.Tyr1133=) | |
| 8 | g.115414488G>C | CA372062787 | TRPS1 | c.3420C>G (p.Tyr1140Ter) c.3381C>G (p.Tyr1127Ter) c.754C>G c.2643C>G (p.Tyr881Ter) c.3393C>G (p.Tyr1131Ter) c.3399C>G (p.Tyr1133Ter) | |
| 8 | g.115414488G>T | CA372062788 | TRPS1 | c.3420C>A (p.Tyr1140Ter) c.3381C>A (p.Tyr1127Ter) c.754C>A c.2643C>A (p.Tyr881Ter) c.3393C>A (p.Tyr1131Ter) c.3399C>A (p.Tyr1133Ter) | |
| 8 | g.115414489T>A | CA372062789 | TRPS1 | c.3419A>T (p.Tyr1140Phe) c.3380A>T (p.Tyr1127Phe) c.753A>T c.2642A>T (p.Tyr881Phe) c.3392A>T (p.Tyr1131Phe) c.3398A>T (p.Tyr1133Phe) | |
| 8 | g.115414489T>C | CA372062790 | TRPS1 | c.3419A>G (p.Tyr1140Cys) c.3380A>G (p.Tyr1127Cys) c.753A>G c.2642A>G (p.Tyr881Cys) c.3392A>G (p.Tyr1131Cys) c.3398A>G (p.Tyr1133Cys) | dbSNP |
| 8 | g.115414489T>G | CA372062791 | TRPS1 | c.3419A>C (p.Tyr1140Ser) c.3380A>C (p.Tyr1127Ser) c.753A>C c.2642A>C (p.Tyr881Ser) c.3392A>C (p.Tyr1131Ser) c.3398A>C (p.Tyr1133Ser) | |
| 8 | g.115414489T= | CA1812853912 | TRPS1 | c.3419A= (p.Tyr1140=) c.3380A= (p.Tyr1127=) c.753A= c.2642A= (p.Tyr881=) c.3392A= (p.Tyr1131=) c.3398A= (p.Tyr1133=) | |
| 8 | g.115414490A>C | CA372062792 | TRPS1 | c.3418T>G (p.Tyr1140Asp) c.3379T>G (p.Tyr1127Asp) c.752T>G c.2641T>G (p.Tyr881Asp) c.3391T>G (p.Tyr1131Asp) c.3397T>G (p.Tyr1133Asp) | gnomAD v4 |
| 8 | g.115414490A>G | CA372062793 | TRPS1 | c.3418T>C (p.Tyr1140His) c.3379T>C (p.Tyr1127His) c.752T>C c.2641T>C (p.Tyr881His) c.3391T>C (p.Tyr1131His) c.3397T>C (p.Tyr1133His) | |
| 8 | g.115414490A>T | CA372062794 | TRPS1 | c.3418T>A (p.Tyr1140Asn) c.3379T>A (p.Tyr1127Asn) c.752T>A c.2641T>A (p.Tyr881Asn) c.3391T>A (p.Tyr1131Asn) c.3397T>A (p.Tyr1133Asn) | |
| 8 | g.115414491G>A | CA462658188 | TRPS1 | c.3417C>T (p.His1139=) c.3378C>T (p.His1126=) c.751C>T c.2640C>T (p.His880=) c.3390C>T (p.His1130=) c.3396C>T (p.His1132=) | |
| 8 | g.115414491G>C | CA372062795 | TRPS1 | c.3417C>G (p.His1139Gln) c.3378C>G (p.His1126Gln) c.751C>G c.2640C>G (p.His880Gln) c.3390C>G (p.His1130Gln) c.3396C>G (p.His1132Gln) | |
| 8 | g.115414491G>T | CA372062796 | TRPS1 | c.3417C>A (p.His1139Gln) c.3378C>A (p.His1126Gln) c.751C>A c.2640C>A (p.His880Gln) c.3390C>A (p.His1130Gln) c.3396C>A (p.His1132Gln) | |
| 8 | g.115414492T>A | CA372062797 | TRPS1 | c.3416A>T (p.His1139Leu) c.3377A>T (p.His1126Leu) c.750A>T c.2639A>T (p.His880Leu) c.3389A>T (p.His1130Leu) c.3395A>T (p.His1132Leu) | |
| 8 | g.115414492T>C | CA372062798 | TRPS1 | c.3416A>G (p.His1139Arg) c.3377A>G (p.His1126Arg) c.750A>G c.2639A>G (p.His880Arg) c.3389A>G (p.His1130Arg) c.3395A>G (p.His1132Arg) | gnomAD v4 |
| 8 | g.115414492T>G | CA372062799 | TRPS1 | c.3416A>C (p.His1139Pro) c.3377A>C (p.His1126Pro) c.750A>C c.2639A>C (p.His880Pro) c.3389A>C (p.His1130Pro) c.3395A>C (p.His1132Pro) | |
| 8 | g.115414493G>A | CA372062802 | TRPS1 | c.3415C>T (p.His1139Tyr) c.3376C>T (p.His1126Tyr) c.749C>T c.2638C>T (p.His880Tyr) c.3388C>T (p.His1130Tyr) c.3394C>T (p.His1132Tyr) | dbSNP gnomAD v4 |
| 8 | g.115414493G>C | CA372062801 | TRPS1 | c.3415C>G (p.His1139Asp) c.3376C>G (p.His1126Asp) c.749C>G c.2638C>G (p.His880Asp) c.3388C>G (p.His1130Asp) c.3394C>G (p.His1132Asp) | |
| 8 | g.115414493G= | CA1812853916 | TRPS1 | c.3415C= (p.His1139=) c.3376C= (p.His1126=) c.749C= c.2638C= (p.His880=) c.3388C= (p.His1130=) c.3394C= (p.His1132=) | |
| 8 | g.115414493G>T | CA372062800 | TRPS1 | c.3415C>A (p.His1139Asn) c.3376C>A (p.His1126Asn) c.749C>A c.2638C>A (p.His880Asn) c.3388C>A (p.His1130Asn) c.3394C>A (p.His1132Asn) | |
| 8 | g.115414494C>A | CA462658190 | TRPS1 | c.3414G>T (p.Pro1138=) c.3375G>T (p.Pro1125=) c.748G>T c.2637G>T (p.Pro879=) c.3387G>T (p.Pro1129=) c.3393G>T (p.Pro1131=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414494C= | CA1812853918 | TRPS1 | c.3414G= (p.Pro1138=) c.3375G= (p.Pro1125=) c.748G= c.2637G= (p.Pro879=) c.3387G= (p.Pro1129=) c.3393G= (p.Pro1131=) | |
| 8 | g.115414494C>G | CA462658191 | TRPS1 | c.3414G>C (p.Pro1138=) c.3375G>C (p.Pro1125=) c.748G>C c.2637G>C (p.Pro879=) c.3387G>C (p.Pro1129=) c.3393G>C (p.Pro1131=) | |
| 8 | g.115414494C>T | CA4851489 | TRPS1 | c.3414G>A (p.Pro1138=) c.3375G>A (p.Pro1125=) c.748G>A c.2637G>A (p.Pro879=) c.3387G>A (p.Pro1129=) c.3393G>A (p.Pro1131=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414495G>A | CA184469557 | TRPS1 | c.3413C>T (p.Pro1138Leu) c.3374C>T (p.Pro1125Leu) c.747C>T c.2636C>T (p.Pro879Leu) c.3386C>T (p.Pro1129Leu) c.3392C>T (p.Pro1131Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.115414495G>C | CA372062803 | TRPS1 | c.3413C>G (p.Pro1138Arg) c.3374C>G (p.Pro1125Arg) c.747C>G c.2636C>G (p.Pro879Arg) c.3386C>G (p.Pro1129Arg) c.3392C>G (p.Pro1131Arg) | |
| 8 | g.115414495G= | CA1812853922 | TRPS1 | c.3413C= (p.Pro1138=) c.3374C= (p.Pro1125=) c.747C= c.2636C= (p.Pro879=) c.3386C= (p.Pro1129=) c.3392C= (p.Pro1131=) | |
| 8 | g.115414495G>T | CA372062804 | TRPS1 | c.3413C>A (p.Pro1138Gln) c.3374C>A (p.Pro1125Gln) c.747C>A c.2636C>A (p.Pro879Gln) c.3386C>A (p.Pro1129Gln) c.3392C>A (p.Pro1131Gln) | gnomAD v4 |