| 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.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 |
| 8 | g.115414496G>A | CA372062805 | TRPS1 | c.3412C>T (p.Pro1138Ser) c.3373C>T (p.Pro1125Ser) c.746C>T c.2635C>T (p.Pro879Ser) c.3385C>T (p.Pro1129Ser) c.3391C>T (p.Pro1131Ser) | |
| 8 | g.115414496G>C | CA372062806 | TRPS1 | c.3412C>G (p.Pro1138Ala) c.3373C>G (p.Pro1125Ala) c.746C>G c.2635C>G (p.Pro879Ala) c.3385C>G (p.Pro1129Ala) c.3391C>G (p.Pro1131Ala) | |
| 8 | g.115414496G>T | CA372062807 | TRPS1 | c.3412C>A (p.Pro1138Thr) c.3373C>A (p.Pro1125Thr) c.746C>A c.2635C>A (p.Pro879Thr) c.3385C>A (p.Pro1129Thr) c.3391C>A (p.Pro1131Thr) | COSMIC COSMIC |
| 8 | g.115414497A>C | CA372062808 | TRPS1 | c.3411T>G (p.Asn1137Lys) c.3372T>G (p.Asn1124Lys) c.745T>G c.2634T>G (p.Asn878Lys) c.3384T>G (p.Asn1128Lys) c.3390T>G (p.Asn1130Lys) | |
| 8 | g.115414497A>G | CA462658195 | TRPS1 | c.3411T>C (p.Asn1137=) c.3372T>C (p.Asn1124=) c.745T>C c.2634T>C (p.Asn878=) c.3384T>C (p.Asn1128=) c.3390T>C (p.Asn1130=) | |
| 8 | g.115414497A>T | CA372062809 | TRPS1 | c.3411T>A (p.Asn1137Lys) c.3372T>A (p.Asn1124Lys) c.745T>A c.2634T>A (p.Asn878Lys) c.3384T>A (p.Asn1128Lys) c.3390T>A (p.Asn1130Lys) | |
| 8 | g.115414498T>A | CA372062810 | TRPS1 | c.3410A>T (p.Asn1137Ile) c.3371A>T (p.Asn1124Ile) c.744A>T c.2633A>T (p.Asn878Ile) c.3383A>T (p.Asn1128Ile) c.3389A>T (p.Asn1130Ile) | |
| 8 | g.115414498T>C | CA372062811 | TRPS1 | c.3410A>G (p.Asn1137Ser) c.3371A>G (p.Asn1124Ser) c.744A>G c.2633A>G (p.Asn878Ser) c.3383A>G (p.Asn1128Ser) c.3389A>G (p.Asn1130Ser) | |
| 8 | g.115414498T>G | CA372062812 | TRPS1 | c.3410A>C (p.Asn1137Thr) c.3371A>C (p.Asn1124Thr) c.744A>C c.2633A>C (p.Asn878Thr) c.3383A>C (p.Asn1128Thr) c.3389A>C (p.Asn1130Thr) | |
| 8 | g.115414499T>A | CA372062815 | TRPS1 | c.3409A>T (p.Asn1137Tyr) c.3370A>T (p.Asn1124Tyr) c.743A>T c.2632A>T (p.Asn878Tyr) c.3382A>T (p.Asn1128Tyr) c.3388A>T (p.Asn1130Tyr) | |
| 8 | g.115414499T>C | CA372062814 | TRPS1 | c.3409A>G (p.Asn1137Asp) c.3370A>G (p.Asn1124Asp) c.743A>G c.2632A>G (p.Asn878Asp) c.3382A>G (p.Asn1128Asp) c.3388A>G (p.Asn1130Asp) | |
| 8 | g.115414499T>G | CA372062813 | TRPS1 | c.3409A>C (p.Asn1137His) c.3370A>C (p.Asn1124His) c.743A>C c.2632A>C (p.Asn878His) c.3382A>C (p.Asn1128His) c.3388A>C (p.Asn1130His) | |
| 8 | g.115414500C>A | CA462658198 | TRPS1 | c.3408G>T (p.Gly1136=) c.3369G>T (p.Gly1123=) c.742G>T c.2631G>T (p.Gly877=) c.3381G>T (p.Gly1127=) c.3387G>T (p.Gly1129=) | |
| 8 | g.115414500C>G | CA462658197 | TRPS1 | c.3408G>C (p.Gly1136=) c.3369G>C (p.Gly1123=) c.742G>C c.2631G>C (p.Gly877=) c.3381G>C (p.Gly1127=) c.3387G>C (p.Gly1129=) | |
| 8 | g.115414500C>T | CA462658196 | TRPS1 | c.3408G>A (p.Gly1136=) c.3369G>A (p.Gly1123=) c.742G>A c.2631G>A (p.Gly877=) c.3381G>A (p.Gly1127=) c.3387G>A (p.Gly1129=) | |
| 8 | g.115414501C>A | CA372062816 | TRPS1 | c.3407G>T (p.Gly1136Val) c.3368G>T (p.Gly1123Val) c.741G>T c.2630G>T (p.Gly877Val) c.3380G>T (p.Gly1127Val) c.3386G>T (p.Gly1129Val) | |
| 8 | g.115414501C>G | CA372062817 | TRPS1 | c.3407G>C (p.Gly1136Ala) c.3368G>C (p.Gly1123Ala) c.741G>C c.2630G>C (p.Gly877Ala) c.3380G>C (p.Gly1127Ala) c.3386G>C (p.Gly1129Ala) | |
| 8 | g.115414501C>T | CA372062818 | TRPS1 | c.3407G>A (p.Gly1136Glu) c.3368G>A (p.Gly1123Glu) c.741G>A c.2630G>A (p.Gly877Glu) c.3380G>A (p.Gly1127Glu) c.3386G>A (p.Gly1129Glu) | dbSNP |
| 8 | g.115414502C>A | CA372062819 | TRPS1 | c.3406G>T (p.Gly1136Trp) c.3367G>T (p.Gly1123Trp) c.740G>T c.2629G>T (p.Gly877Trp) c.3379G>T (p.Gly1127Trp) c.3385G>T (p.Gly1129Trp) | |
| 8 | g.115414502C= | CA1812853924 | TRPS1 | c.3406G= (p.Gly1136=) c.3367G= (p.Gly1123=) c.740G= c.2629G= (p.Gly877=) c.3379G= (p.Gly1127=) c.3385G= (p.Gly1129=) | |
| 8 | g.115414502C>G | CA372062820 | TRPS1 | c.3406G>C (p.Gly1136Arg) c.3367G>C (p.Gly1123Arg) c.740G>C c.2629G>C (p.Gly877Arg) c.3379G>C (p.Gly1127Arg) c.3385G>C (p.Gly1129Arg) | |
| 8 | g.115414502C>T | CA372062821 | TRPS1 | c.3406G>A (p.Gly1136Arg) c.3367G>A (p.Gly1123Arg) c.740G>A c.2629G>A (p.Gly877Arg) c.3379G>A (p.Gly1127Arg) c.3385G>A (p.Gly1129Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414503A>C | CA462658202 | TRPS1 | c.3405T>G (p.Pro1135=) c.3366T>G (p.Pro1122=) c.739T>G c.2628T>G (p.Pro876=) c.3378T>G (p.Pro1126=) c.3384T>G (p.Pro1128=) | |
| 8 | g.115414503A>G | CA462658204 | TRPS1 | c.3405T>C (p.Pro1135=) c.3366T>C (p.Pro1122=) c.739T>C c.2628T>C (p.Pro876=) c.3378T>C (p.Pro1126=) c.3384T>C (p.Pro1128=) | |
| 8 | g.115414503A>T | CA462658203 | TRPS1 | c.3405T>A (p.Pro1135=) c.3366T>A (p.Pro1122=) c.739T>A c.2628T>A (p.Pro876=) c.3378T>A (p.Pro1126=) c.3384T>A (p.Pro1128=) | |
| 8 | g.115414504G>A | CA372062822 | TRPS1 | c.3404C>T (p.Pro1135Leu) c.3365C>T (p.Pro1122Leu) c.738C>T c.2627C>T (p.Pro876Leu) c.3377C>T (p.Pro1126Leu) c.3383C>T (p.Pro1128Leu) | |
| 8 | g.115414504G>C | CA372062823 | TRPS1 | c.3404C>G (p.Pro1135Arg) c.3365C>G (p.Pro1122Arg) c.738C>G c.2627C>G (p.Pro876Arg) c.3377C>G (p.Pro1126Arg) c.3383C>G (p.Pro1128Arg) | |
| 8 | g.115414504G>T | CA372062824 | TRPS1 | c.3404C>A (p.Pro1135His) c.3365C>A (p.Pro1122His) c.738C>A c.2627C>A (p.Pro876His) c.3377C>A (p.Pro1126His) c.3383C>A (p.Pro1128His) | |
| 8 | g.115414505G>A | CA372062825 | TRPS1 | c.3403C>T (p.Pro1135Ser) c.3364C>T (p.Pro1122Ser) c.737C>T c.2626C>T (p.Pro876Ser) c.3376C>T (p.Pro1126Ser) c.3382C>T (p.Pro1128Ser) | |
| 8 | g.115414505G>C | CA372062826 | TRPS1 | c.3403C>G (p.Pro1135Ala) c.3364C>G (p.Pro1122Ala) c.737C>G c.2626C>G (p.Pro876Ala) c.3376C>G (p.Pro1126Ala) c.3382C>G (p.Pro1128Ala) | gnomAD v4 |
| 8 | g.115414505G>T | CA372062827 | TRPS1 | c.3403C>A (p.Pro1135Thr) c.3364C>A (p.Pro1122Thr) c.737C>A c.2626C>A (p.Pro876Thr) c.3376C>A (p.Pro1126Thr) c.3382C>A (p.Pro1128Thr) | |
| 8 | g.115414506A= | CA1812853926 | TRPS1 | c.3402T= (p.Val1134=) c.3363T= (p.Val1121=) c.736T= c.2625T= (p.Val875=) c.3375T= (p.Val1125=) c.3381T= (p.Val1127=) | |
| 8 | g.115414506A>C | CA462658207 | TRPS1 | c.3402T>G (p.Val1134=) c.3363T>G (p.Val1121=) c.736T>G c.2625T>G (p.Val875=) c.3375T>G (p.Val1125=) c.3381T>G (p.Val1127=) | |
| 8 | g.115414506A>G | CA462658209 | TRPS1 | c.3402T>C (p.Val1134=) c.3363T>C (p.Val1121=) c.736T>C c.2625T>C (p.Val875=) c.3375T>C (p.Val1125=) c.3381T>C (p.Val1127=) | |
| 8 | g.115414506A>T | CA462658210 | TRPS1 | c.3402T>A (p.Val1134=) c.3363T>A (p.Val1121=) c.736T>A c.2625T>A (p.Val875=) c.3375T>A (p.Val1125=) c.3381T>A (p.Val1127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414507A>C | CA372062830 | TRPS1 | c.3401T>G (p.Val1134Gly) c.3362T>G (p.Val1121Gly) c.735T>G c.2624T>G (p.Val875Gly) c.3374T>G (p.Val1125Gly) c.3380T>G (p.Val1127Gly) | |
| 8 | g.115414507A>G | CA372062829 | TRPS1 | c.3401T>C (p.Val1134Ala) c.3362T>C (p.Val1121Ala) c.735T>C c.2624T>C (p.Val875Ala) c.3374T>C (p.Val1125Ala) c.3380T>C (p.Val1127Ala) | ClinVar |
| 8 | g.115414507A>T | CA372062828 | TRPS1 | c.3401T>A (p.Val1134Asp) c.3362T>A (p.Val1121Asp) c.735T>A c.2624T>A (p.Val875Asp) c.3374T>A (p.Val1125Asp) c.3380T>A (p.Val1127Asp) | |
| 8 | g.115414508C>A | CA4851491 | TRPS1 | c.3400G>T (p.Val1134Phe) c.3361G>T (p.Val1121Phe) c.734G>T c.2623G>T (p.Val875Phe) c.3373G>T (p.Val1125Phe) c.3379G>T (p.Val1127Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414508C= | CA1812853928 | TRPS1 | c.3400G= (p.Val1134=) c.3361G= (p.Val1121=) c.734G= c.2623G= (p.Val875=) c.3373G= (p.Val1125=) c.3379G= (p.Val1127=) | |
| 8 | g.115414508C>G | CA372062831 | TRPS1 | c.3400G>C (p.Val1134Leu) c.3361G>C (p.Val1121Leu) c.734G>C c.2623G>C (p.Val875Leu) c.3373G>C (p.Val1125Leu) c.3379G>C (p.Val1127Leu) | |
| 8 | g.115414508C>T | CA4851490 | TRPS1 | c.3400G>A (p.Val1134Ile) c.3361G>A (p.Val1121Ile) c.734G>A c.2623G>A (p.Val875Ile) c.3373G>A (p.Val1125Ile) c.3379G>A (p.Val1127Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414508_115414509insCTCC | CA2580078544 | TRPS1 | c.3400_3401insGAGG (p.Val1134GlyfsTer?) c.3361_3362insGAGG (p.Val1121GlyfsTer?) c.734_735insGAGG c.2623_2624insGAGG (p.Val875GlyfsTer?) c.3373_3374insGAGG (p.Val1125GlyfsTer?) c.3379_3380insGAGG (p.Val1127GlyfsTer?) | ClinVar dbSNP |
| 8 | g.115414509G>A | CA4851492 | TRPS1 | c.3399C>T (p.Ser1133=) c.3360C>T (p.Ser1120=) c.733C>T c.2622C>T (p.Ser874=) c.3372C>T (p.Ser1124=) c.3378C>T (p.Ser1126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414509G>C | CA462658211 | TRPS1 | c.3399C>G (p.Ser1133=) c.3360C>G (p.Ser1120=) c.733C>G c.2622C>G (p.Ser874=) c.3372C>G (p.Ser1124=) c.3378C>G (p.Ser1126=) | COSMIC COSMIC |
| 8 | g.115414509G= | CA1812853934 | TRPS1 | c.3399C= (p.Ser1133=) c.3360C= (p.Ser1120=) c.733C= c.2622C= (p.Ser874=) c.3372C= (p.Ser1124=) c.3378C= (p.Ser1126=) | |
| 8 | g.115414509G>T | CA462658212 | TRPS1 | c.3399C>A (p.Ser1133=) c.3360C>A (p.Ser1120=) c.733C>A c.2622C>A (p.Ser874=) c.3372C>A (p.Ser1124=) c.3378C>A (p.Ser1126=) | |
| 8 | g.115414510G>A | CA372062832 | TRPS1 | c.3398C>T (p.Ser1133Phe) c.3359C>T (p.Ser1120Phe) c.732C>T c.2621C>T (p.Ser874Phe) c.3371C>T (p.Ser1124Phe) c.3377C>T (p.Ser1126Phe) | |
| 8 | g.115414510G>C | CA372062833 | TRPS1 | c.3398C>G (p.Ser1133Cys) c.3359C>G (p.Ser1120Cys) c.732C>G c.2621C>G (p.Ser874Cys) c.3371C>G (p.Ser1124Cys) c.3377C>G (p.Ser1126Cys) | COSMIC COSMIC |
| 8 | g.115414510G>T | CA372062834 | TRPS1 | c.3398C>A (p.Ser1133Tyr) c.3359C>A (p.Ser1120Tyr) c.732C>A c.2621C>A (p.Ser874Tyr) c.3371C>A (p.Ser1124Tyr) c.3377C>A (p.Ser1126Tyr) | |
| 8 | g.115414511A>C | CA372062835 | TRPS1 | c.3397T>G (p.Ser1133Ala) c.3358T>G (p.Ser1120Ala) c.731T>G c.2620T>G (p.Ser874Ala) c.3370T>G (p.Ser1124Ala) c.3376T>G (p.Ser1126Ala) | |
| 8 | g.115414511A>G | CA372062836 | TRPS1 | c.3397T>C (p.Ser1133Pro) c.3358T>C (p.Ser1120Pro) c.731T>C c.2620T>C (p.Ser874Pro) c.3370T>C (p.Ser1124Pro) c.3376T>C (p.Ser1126Pro) | |
| 8 | g.115414511A>T | CA372062837 | TRPS1 | c.3397T>A (p.Ser1133Thr) c.3358T>A (p.Ser1120Thr) c.731T>A c.2620T>A (p.Ser874Thr) c.3370T>A (p.Ser1124Thr) c.3376T>A (p.Ser1126Thr) | |
| 8 | g.115414512G>A | CA462658213 | TRPS1 | c.3396C>T (p.Leu1132=) c.3357C>T (p.Leu1119=) c.730C>T c.2619C>T (p.Leu873=) c.3369C>T (p.Leu1123=) c.3375C>T (p.Leu1125=) | |
| 8 | g.115414512G>C | CA462658214 | TRPS1 | c.3396C>G (p.Leu1132=) c.3357C>G (p.Leu1119=) c.730C>G c.2619C>G (p.Leu873=) c.3369C>G (p.Leu1123=) c.3375C>G (p.Leu1125=) | |
| 8 | g.115414512G>T | CA462658215 | TRPS1 | c.3396C>A (p.Leu1132=) c.3357C>A (p.Leu1119=) c.730C>A c.2619C>A (p.Leu873=) c.3369C>A (p.Leu1123=) c.3375C>A (p.Leu1125=) | |
| 8 | g.115414513A= | CA1812853939 | TRPS1 | c.3395T= (p.Leu1132=) c.3356T= (p.Leu1119=) c.729T= c.2618T= (p.Leu873=) c.3368T= (p.Leu1123=) c.3374T= (p.Leu1125=) | |
| 8 | g.115414513A>C | CA184469567 | TRPS1 | c.3395T>G (p.Leu1132Arg) c.3356T>G (p.Leu1119Arg) c.729T>G c.2618T>G (p.Leu873Arg) c.3368T>G (p.Leu1123Arg) c.3374T>G (p.Leu1125Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414513A>G | CA372062838 | TRPS1 | c.3395T>C (p.Leu1132Pro) c.3356T>C (p.Leu1119Pro) c.729T>C c.2618T>C (p.Leu873Pro) c.3368T>C (p.Leu1123Pro) c.3374T>C (p.Leu1125Pro) | dbSNP gnomAD v4 |
| 8 | g.115414513A>T | CA372062839 | TRPS1 | c.3395T>A (p.Leu1132His) c.3356T>A (p.Leu1119His) c.729T>A c.2618T>A (p.Leu873His) c.3368T>A (p.Leu1123His) c.3374T>A (p.Leu1125His) | |
| 8 | g.115414514G>A | CA372062841 | TRPS1 | c.3394C>T (p.Leu1132Phe) c.3355C>T (p.Leu1119Phe) c.728C>T c.2617C>T (p.Leu873Phe) c.3367C>T (p.Leu1123Phe) c.3373C>T (p.Leu1125Phe) | |
| 8 | g.115414514G>C | CA372062842 | TRPS1 | c.3394C>G (p.Leu1132Val) c.3355C>G (p.Leu1119Val) c.728C>G c.2617C>G (p.Leu873Val) c.3367C>G (p.Leu1123Val) c.3373C>G (p.Leu1125Val) | |
| 8 | g.115414514G>T | CA372062840 | TRPS1 | c.3394C>A (p.Leu1132Ile) c.3355C>A (p.Leu1119Ile) c.728C>A c.2617C>A (p.Leu873Ile) c.3367C>A (p.Leu1123Ile) c.3373C>A (p.Leu1125Ile) | |
| 8 | g.115414515C>A | CA372062844 | TRPS1 | c.3393G>T (p.Lys1131Asn) c.3354G>T (p.Lys1118Asn) c.727G>T c.2616G>T (p.Lys872Asn) c.3366G>T (p.Lys1122Asn) c.3372G>T (p.Lys1124Asn) | |
| 8 | g.115414515C>G | CA372062843 | TRPS1 | c.3393G>C (p.Lys1131Asn) c.3354G>C (p.Lys1118Asn) c.727G>C c.2616G>C (p.Lys872Asn) c.3366G>C (p.Lys1122Asn) c.3372G>C (p.Lys1124Asn) | |
| 8 | g.115414515C>T | CA462658217 | TRPS1 | c.3393G>A (p.Lys1131=) c.3354G>A (p.Lys1118=) c.727G>A c.2616G>A (p.Lys872=) c.3366G>A (p.Lys1122=) c.3372G>A (p.Lys1124=) | |
| 8 | g.115414516T>A | CA372062847 | TRPS1 | c.3392A>T (p.Lys1131Met) c.3353A>T (p.Lys1118Met) c.726A>T c.2615A>T (p.Lys872Met) c.3365A>T (p.Lys1122Met) c.3371A>T (p.Lys1124Met) | |
| 8 | g.115414516T>C | CA372062845 | TRPS1 | c.3392A>G (p.Lys1131Arg) c.3353A>G (p.Lys1118Arg) c.726A>G c.2615A>G (p.Lys872Arg) c.3365A>G (p.Lys1122Arg) c.3371A>G (p.Lys1124Arg) | COSMIC COSMIC |
| 8 | g.115414516T>G | CA372062846 | TRPS1 | c.3392A>C (p.Lys1131Thr) c.3353A>C (p.Lys1118Thr) c.726A>C c.2615A>C (p.Lys872Thr) c.3365A>C (p.Lys1122Thr) c.3371A>C (p.Lys1124Thr) | gnomAD v4 |
| 8 | g.115414517T>A | CA372062848 | TRPS1 | c.3391A>T (p.Lys1131Ter) c.3352A>T (p.Lys1118Ter) c.725A>T c.2614A>T (p.Lys872Ter) c.3364A>T (p.Lys1122Ter) c.3370A>T (p.Lys1124Ter) | |
| 8 | g.115414517T>C | CA372062849 | TRPS1 | c.3391A>G (p.Lys1131Glu) c.3352A>G (p.Lys1118Glu) c.725A>G c.2614A>G (p.Lys872Glu) c.3364A>G (p.Lys1122Glu) c.3370A>G (p.Lys1124Glu) | |
| 8 | g.115414517T>G | CA372062850 | TRPS1 | c.3391A>C (p.Lys1131Gln) c.3352A>C (p.Lys1118Gln) c.725A>C c.2614A>C (p.Lys872Gln) c.3364A>C (p.Lys1122Gln) c.3370A>C (p.Lys1124Gln) | |
| 8 | g.115414518A= | CA1812853943 | TRPS1 | c.3390T= (p.Tyr1130=) c.3351T= (p.Tyr1117=) c.724T= c.2613T= (p.Tyr871=) c.3363T= (p.Tyr1121=) c.3369T= (p.Tyr1123=) | |
| 8 | g.115414518A>C | CA372062851 | TRPS1 | c.3390T>G (p.Tyr1130Ter) c.3351T>G (p.Tyr1117Ter) c.724T>G c.2613T>G (p.Tyr871Ter) c.3363T>G (p.Tyr1121Ter) c.3369T>G (p.Tyr1123Ter) | |
| 8 | g.115414518A>G | CA4851493 | TRPS1 | c.3390T>C (p.Tyr1130=) c.3351T>C (p.Tyr1117=) c.724T>C c.2613T>C (p.Tyr871=) c.3363T>C (p.Tyr1121=) c.3369T>C (p.Tyr1123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414518A>T | CA372062852 | TRPS1 | c.3390T>A (p.Tyr1130Ter) c.3351T>A (p.Tyr1117Ter) c.724T>A c.2613T>A (p.Tyr871Ter) c.3363T>A (p.Tyr1121Ter) c.3369T>A (p.Tyr1123Ter) | |
| 8 | g.115414519T>A | CA372062853 | TRPS1 | c.3389A>T (p.Tyr1130Phe) c.3350A>T (p.Tyr1117Phe) c.723A>T c.2612A>T (p.Tyr871Phe) c.3362A>T (p.Tyr1121Phe) c.3368A>T (p.Tyr1123Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414519T>C | CA372062854 | TRPS1 | c.3389A>G (p.Tyr1130Cys) c.3350A>G (p.Tyr1117Cys) c.723A>G c.2612A>G (p.Tyr871Cys) c.3362A>G (p.Tyr1121Cys) c.3368A>G (p.Tyr1123Cys) | |
| 8 | g.115414519T>G | CA372062855 | TRPS1 | c.3389A>C (p.Tyr1130Ser) c.3350A>C (p.Tyr1117Ser) c.723A>C c.2612A>C (p.Tyr871Ser) c.3362A>C (p.Tyr1121Ser) c.3368A>C (p.Tyr1123Ser) | |
| 8 | g.115414519T= | CA1812853945 | TRPS1 | c.3389A= (p.Tyr1130=) c.3350A= (p.Tyr1117=) c.723A= c.2612A= (p.Tyr871=) c.3362A= (p.Tyr1121=) c.3368A= (p.Tyr1123=) | |
| 8 | g.115414520A>C | CA372062856 | TRPS1 | c.3388T>G (p.Tyr1130Asp) c.3349T>G (p.Tyr1117Asp) c.722T>G c.2611T>G (p.Tyr871Asp) c.3361T>G (p.Tyr1121Asp) c.3367T>G (p.Tyr1123Asp) | |
| 8 | g.115414520A>G | CA372062857 | TRPS1 | c.3388T>C (p.Tyr1130His) c.3349T>C (p.Tyr1117His) c.722T>C c.2611T>C (p.Tyr871His) c.3361T>C (p.Tyr1121His) c.3367T>C (p.Tyr1123His) | |
| 8 | g.115414520A>T | CA372062858 | TRPS1 | c.3388T>A (p.Tyr1130Asn) c.3349T>A (p.Tyr1117Asn) c.722T>A c.2611T>A (p.Tyr871Asn) c.3361T>A (p.Tyr1121Asn) c.3367T>A (p.Tyr1123Asn) | |
| 8 | g.115414521T>A | CA372062859 | TRPS1 | c.3387A>T (p.Lys1129Asn) c.3348A>T (p.Lys1116Asn) c.721A>T c.2610A>T (p.Lys870Asn) c.3360A>T (p.Lys1120Asn) c.3366A>T (p.Lys1122Asn) | |
| 8 | g.115414521T>C | CA462658218 | TRPS1 | c.3387A>G (p.Lys1129=) c.3348A>G (p.Lys1116=) c.721A>G c.2610A>G (p.Lys870=) c.3360A>G (p.Lys1120=) c.3366A>G (p.Lys1122=) | |
| 8 | g.115414521T>G | CA372062860 | TRPS1 | c.3387A>C (p.Lys1129Asn) c.3348A>C (p.Lys1116Asn) c.721A>C c.2610A>C (p.Lys870Asn) c.3360A>C (p.Lys1120Asn) c.3366A>C (p.Lys1122Asn) | |
| 8 | g.115414522T>A | CA372062861 | TRPS1 | c.3386A>T (p.Lys1129Ile) c.3347A>T (p.Lys1116Ile) c.720A>T c.2609A>T (p.Lys870Ile) c.3359A>T (p.Lys1120Ile) c.3365A>T (p.Lys1122Ile) | |
| 8 | g.115414522T>C | CA372062862 | TRPS1 | c.3386A>G (p.Lys1129Arg) c.3347A>G (p.Lys1116Arg) c.720A>G c.2609A>G (p.Lys870Arg) c.3359A>G (p.Lys1120Arg) c.3365A>G (p.Lys1122Arg) | gnomAD v4 |
| 8 | g.115414522T>G | CA372062863 | TRPS1 | c.3386A>C (p.Lys1129Thr) c.3347A>C (p.Lys1116Thr) c.720A>C c.2609A>C (p.Lys870Thr) c.3359A>C (p.Lys1120Thr) c.3365A>C (p.Lys1122Thr) | |
| 8 | g.115414523T>A | CA372062864 | TRPS1 | c.3385A>T (p.Lys1129Ter) c.3346A>T (p.Lys1116Ter) c.719A>T c.2608A>T (p.Lys870Ter) c.3358A>T (p.Lys1120Ter) c.3364A>T (p.Lys1122Ter) | COSMIC COSMIC |
| 8 | g.115414523T>C | CA372062865 | TRPS1 | c.3385A>G (p.Lys1129Glu) c.3346A>G (p.Lys1116Glu) c.719A>G c.2608A>G (p.Lys870Glu) c.3358A>G (p.Lys1120Glu) c.3364A>G (p.Lys1122Glu) | |
| 8 | g.115414523T>G | CA372062866 | TRPS1 | c.3385A>C (p.Lys1129Gln) c.3346A>C (p.Lys1116Gln) c.719A>C c.2608A>C (p.Lys870Gln) c.3358A>C (p.Lys1120Gln) c.3364A>C (p.Lys1122Gln) | |
| 8 | g.115414524A>C | CA372062867 | TRPS1 | c.3384T>G (p.Ser1128Arg) c.3345T>G (p.Ser1115Arg) c.718T>G c.2607T>G (p.Ser869Arg) c.3357T>G (p.Ser1119Arg) c.3363T>G (p.Ser1121Arg) | |
| 8 | g.115414524A>G | CA462658222 | TRPS1 | c.3384T>C (p.Ser1128=) c.3345T>C (p.Ser1115=) c.718T>C c.2607T>C (p.Ser869=) c.3357T>C (p.Ser1119=) c.3363T>C (p.Ser1121=) | |
| 8 | g.115414524A>T | CA372062868 | TRPS1 | c.3384T>A (p.Ser1128Arg) c.3345T>A (p.Ser1115Arg) c.718T>A c.2607T>A (p.Ser869Arg) c.3357T>A (p.Ser1119Arg) c.3363T>A (p.Ser1121Arg) | |
| 8 | g.115414525C>A | CA372062869 | TRPS1 | c.3383G>T (p.Ser1128Ile) c.3344G>T (p.Ser1115Ile) c.717G>T c.2606G>T (p.Ser869Ile) c.3356G>T (p.Ser1119Ile) c.3362G>T (p.Ser1121Ile) | |
| 8 | g.115414525C= | CA1812853950 | TRPS1 | c.3383G= (p.Ser1128=) c.3344G= (p.Ser1115=) c.717G= c.2606G= (p.Ser869=) c.3356G= (p.Ser1119=) c.3362G= (p.Ser1121=) | |
| 8 | g.115414525C>G | CA372062870 | TRPS1 | c.3383G>C (p.Ser1128Thr) c.3344G>C (p.Ser1115Thr) c.717G>C c.2606G>C (p.Ser869Thr) c.3356G>C (p.Ser1119Thr) c.3362G>C (p.Ser1121Thr) | |
| 8 | g.115414525C>T | CA372062871 | TRPS1 | c.3383G>A (p.Ser1128Asn) c.3344G>A (p.Ser1115Asn) c.717G>A c.2606G>A (p.Ser869Asn) c.3356G>A (p.Ser1119Asn) c.3362G>A (p.Ser1121Asn) | dbSNP |
| 8 | g.115414526T>A | CA372062874 | TRPS1 | c.3382A>T (p.Ser1128Cys) c.3343A>T (p.Ser1115Cys) c.716A>T c.2605A>T (p.Ser869Cys) c.3355A>T (p.Ser1119Cys) c.3361A>T (p.Ser1121Cys) | |
| 8 | g.115414526T>C | CA372062873 | TRPS1 | c.3382A>G (p.Ser1128Gly) c.3343A>G (p.Ser1115Gly) c.716A>G c.2605A>G (p.Ser869Gly) c.3355A>G (p.Ser1119Gly) c.3361A>G (p.Ser1121Gly) | |
| 8 | g.115414526T>G | CA372062872 | TRPS1 | c.3382A>C (p.Ser1128Arg) c.3343A>C (p.Ser1115Arg) c.716A>C c.2605A>C (p.Ser869Arg) c.3355A>C (p.Ser1119Arg) c.3361A>C (p.Ser1121Arg) | |
| 8 | g.115414527C>A | CA372062875 | TRPS1 | c.3381G>T (p.Trp1127Cys) c.3342G>T (p.Trp1114Cys) c.715G>T c.2604G>T (p.Trp868Cys) c.3354G>T (p.Trp1118Cys) c.3360G>T (p.Trp1120Cys) | |
| 8 | g.115414527C= | CA1812853953 | TRPS1 | c.3381G= (p.Trp1127=) c.3342G= (p.Trp1114=) c.715G= c.2604G= (p.Trp868=) c.3354G= (p.Trp1118=) c.3360G= (p.Trp1120=) | |
| 8 | g.115414527C>G | CA372062876 | TRPS1 | c.3381G>C (p.Trp1127Cys) c.3342G>C (p.Trp1114Cys) c.715G>C c.2604G>C (p.Trp868Cys) c.3354G>C (p.Trp1118Cys) c.3360G>C (p.Trp1120Cys) | dbSNP |
| 8 | g.115414527C>T | CA372062877 | TRPS1 | c.3381G>A (p.Trp1127Ter) c.3342G>A (p.Trp1114Ter) c.715G>A c.2604G>A (p.Trp868Ter) c.3354G>A (p.Trp1118Ter) c.3360G>A (p.Trp1120Ter) |