| 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.115414285C>A | CA372062353 | TRPS1 | c.3623G>T (p.Gly1208Val) c.3584G>T (p.Gly1195Val) c.2846G>T (p.Gly949Val) c.3596G>T (p.Gly1199Val) c.3602G>T (p.Gly1201Val) | |
| 8 | g.115414285C>G | CA372062354 | TRPS1 | c.3623G>C (p.Gly1208Ala) c.3584G>C (p.Gly1195Ala) c.2846G>C (p.Gly949Ala) c.3596G>C (p.Gly1199Ala) c.3602G>C (p.Gly1201Ala) | |
| 8 | g.115414285C>T | CA372062355 | TRPS1 | c.3623G>A (p.Gly1208Asp) c.3584G>A (p.Gly1195Asp) c.2846G>A (p.Gly949Asp) c.3596G>A (p.Gly1199Asp) c.3602G>A (p.Gly1201Asp) | |
| 8 | g.115414285_115414287dup | CA1118165826 | TRPS1 | c.3621_3623dup (p.Gly1208_Pro1209insGly) c.3582_3584dup (p.Gly1195_Pro1196insGly) c.2844_2846dup (p.Gly949_Pro950insGly) c.3594_3596dup (p.Gly1199_Pro1200insGly) c.3600_3602dup (p.Gly1201_Pro1202insGly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414286C>A | CA372062358 | TRPS1 | c.3622G>T (p.Gly1208Cys) c.3583G>T (p.Gly1195Cys) c.2845G>T (p.Gly949Cys) c.3595G>T (p.Gly1199Cys) c.3601G>T (p.Gly1201Cys) | |
| 8 | g.115414286C>G | CA372062356 | TRPS1 | c.3622G>C (p.Gly1208Arg) c.3583G>C (p.Gly1195Arg) c.2845G>C (p.Gly949Arg) c.3595G>C (p.Gly1199Arg) c.3601G>C (p.Gly1201Arg) | |
| 8 | g.115414286C>T | CA372062357 | TRPS1 | c.3622G>A (p.Gly1208Ser) c.3583G>A (p.Gly1195Ser) c.2845G>A (p.Gly949Ser) c.3595G>A (p.Gly1199Ser) c.3601G>A (p.Gly1201Ser) | |
| 8 | g.115414287T>A | CA372062359 | TRPS1 | c.3621A>T (p.Glu1207Asp) c.3582A>T (p.Glu1194Asp) c.2844A>T (p.Glu948Asp) c.3594A>T (p.Glu1198Asp) c.3600A>T (p.Glu1200Asp) | |
| 8 | g.115414287T>C | CA184469332 | TRPS1 | c.3621A>G (p.Glu1207=) c.3582A>G (p.Glu1194=) c.2844A>G (p.Glu948=) c.3594A>G (p.Glu1198=) c.3600A>G (p.Glu1200=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414287T>G | CA372062360 | TRPS1 | c.3621A>C (p.Glu1207Asp) c.3582A>C (p.Glu1194Asp) c.2844A>C (p.Glu948Asp) c.3594A>C (p.Glu1198Asp) c.3600A>C (p.Glu1200Asp) | |
| 8 | g.115414287T= | CA1812853735 | TRPS1 | c.3621A= (p.Glu1207=) c.3582A= (p.Glu1194=) c.2844A= (p.Glu948=) c.3594A= (p.Glu1198=) c.3600A= (p.Glu1200=) | |
| 8 | g.115414288T>A | CA372062361 | TRPS1 | c.3620A>T (p.Glu1207Val) c.3581A>T (p.Glu1194Val) c.2843A>T (p.Glu948Val) c.3593A>T (p.Glu1198Val) c.3599A>T (p.Glu1200Val) | |
| 8 | g.115414288T>C | CA372062362 | TRPS1 | c.3620A>G (p.Glu1207Gly) c.3581A>G (p.Glu1194Gly) c.2843A>G (p.Glu948Gly) c.3593A>G (p.Glu1198Gly) c.3599A>G (p.Glu1200Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.115414288T>G | CA372062363 | TRPS1 | c.3620A>C (p.Glu1207Ala) c.3581A>C (p.Glu1194Ala) c.2843A>C (p.Glu948Ala) c.3593A>C (p.Glu1198Ala) c.3599A>C (p.Glu1200Ala) | |
| 8 | g.115414289C>A | CA372062364 | TRPS1 | c.3619G>T (p.Glu1207Ter) c.3580G>T (p.Glu1194Ter) c.2842G>T (p.Glu948Ter) c.3592G>T (p.Glu1198Ter) c.3598G>T (p.Glu1200Ter) | |
| 8 | g.115414289C>G | CA372062366 | TRPS1 | c.3619G>C (p.Glu1207Gln) c.3580G>C (p.Glu1194Gln) c.2842G>C (p.Glu948Gln) c.3592G>C (p.Glu1198Gln) c.3598G>C (p.Glu1200Gln) | |
| 8 | g.115414289C>T | CA372062365 | TRPS1 | c.3619G>A (p.Glu1207Lys) c.3580G>A (p.Glu1194Lys) c.2842G>A (p.Glu948Lys) c.3592G>A (p.Glu1198Lys) c.3598G>A (p.Glu1200Lys) | |
| 8 | g.115414289_115414290insT | CA645561861 | TRPS1 | c.3618_3619insA (p.Glu1207ArgfsTer13) c.3579_3580insA (p.Glu1194ArgfsTer13) c.2841_2842insA (p.Glu948ArgfsTer13) c.3591_3592insA (p.Glu1198ArgfsTer13) c.3597_3598insA (p.Glu1200ArgfsTer13) | COSMIC COSMIC |
| 8 | g.115414290A>C | CA372062367 | TRPS1 | c.3618T>G (p.Asn1206Lys) c.3579T>G (p.Asn1193Lys) c.2841T>G (p.Asn947Lys) c.3591T>G (p.Asn1197Lys) c.3597T>G (p.Asn1199Lys) | |
| 8 | g.115414290A>G | CA462658272 | TRPS1 | c.3618T>C (p.Asn1206=) c.3579T>C (p.Asn1193=) c.2841T>C (p.Asn947=) c.3591T>C (p.Asn1197=) c.3597T>C (p.Asn1199=) | |
| 8 | g.115414290A>T | CA372062368 | TRPS1 | c.3618T>A (p.Asn1206Lys) c.3579T>A (p.Asn1193Lys) c.2841T>A (p.Asn947Lys) c.3591T>A (p.Asn1197Lys) c.3597T>A (p.Asn1199Lys) | |
| 8 | g.115414291T>A | CA372062369 | TRPS1 | c.3617A>T (p.Asn1206Ile) c.3578A>T (p.Asn1193Ile) c.2840A>T (p.Asn947Ile) c.3590A>T (p.Asn1197Ile) c.3596A>T (p.Asn1199Ile) | gnomAD v4 |
| 8 | g.115414291T>C | CA372062370 | TRPS1 | c.3617A>G (p.Asn1206Ser) c.3578A>G (p.Asn1193Ser) c.2840A>G (p.Asn947Ser) c.3590A>G (p.Asn1197Ser) c.3596A>G (p.Asn1199Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414291T>G | CA4851463 | TRPS1 | c.3617A>C (p.Asn1206Thr) c.3578A>C (p.Asn1193Thr) c.2840A>C (p.Asn947Thr) c.3590A>C (p.Asn1197Thr) c.3596A>C (p.Asn1199Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414291T= | CA1812853736 | TRPS1 | c.3617A= (p.Asn1206=) c.3578A= (p.Asn1193=) c.2840A= (p.Asn947=) c.3590A= (p.Asn1197=) c.3596A= (p.Asn1199=) | |
| 8 | g.115414296del | CA462658274 | TRPS1 | c.3617del (p.Asn1206MetfsTer5) c.3578del (p.Asn1193MetfsTer5) c.2840del (p.Asn947MetfsTer5) c.3590del (p.Asn1197MetfsTer5) c.3596del (p.Asn1199MetfsTer5) | COSMIC COSMIC |
| 8 | g.115414292T>A | CA372062371 | TRPS1 | c.3616A>T (p.Asn1206Tyr) c.3577A>T (p.Asn1193Tyr) c.2839A>T (p.Asn947Tyr) c.3589A>T (p.Asn1197Tyr) c.3595A>T (p.Asn1199Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414292T>C | CA372062372 | TRPS1 | c.3616A>G (p.Asn1206Asp) c.3577A>G (p.Asn1193Asp) c.2839A>G (p.Asn947Asp) c.3589A>G (p.Asn1197Asp) c.3595A>G (p.Asn1199Asp) | |
| 8 | g.115414292T>G | CA372062373 | TRPS1 | c.3616A>C (p.Asn1206His) c.3577A>C (p.Asn1193His) c.2839A>C (p.Asn947His) c.3589A>C (p.Asn1197His) c.3595A>C (p.Asn1199His) | |
| 8 | g.115414292T= | CA1812853737 | TRPS1 | c.3616A= (p.Asn1206=) c.3577A= (p.Asn1193=) c.2839A= (p.Asn947=) c.3589A= (p.Asn1197=) c.3595A= (p.Asn1199=) | |
| 8 | g.115414293T>A | CA372062374 | TRPS1 | c.3615A>T (p.Lys1205Asn) c.3576A>T (p.Lys1192Asn) c.2838A>T (p.Lys946Asn) c.3588A>T (p.Lys1196Asn) c.3594A>T (p.Lys1198Asn) | |
| 8 | g.115414293T>C | CA4851464 | TRPS1 | c.3615A>G (p.Lys1205=) c.3576A>G (p.Lys1192=) c.2838A>G (p.Lys946=) c.3588A>G (p.Lys1196=) c.3594A>G (p.Lys1198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414293T>G | CA372062375 | TRPS1 | c.3615A>C (p.Lys1205Asn) c.3576A>C (p.Lys1192Asn) c.2838A>C (p.Lys946Asn) c.3588A>C (p.Lys1196Asn) c.3594A>C (p.Lys1198Asn) | |
| 8 | g.115414293T= | CA1812853738 | TRPS1 | c.3615A= (p.Lys1205=) c.3576A= (p.Lys1192=) c.2838A= (p.Lys946=) c.3588A= (p.Lys1196=) c.3594A= (p.Lys1198=) | |
| 8 | g.115414294T>A | CA372062377 | TRPS1 | c.3614A>T (p.Lys1205Ile) c.3575A>T (p.Lys1192Ile) c.2837A>T (p.Lys946Ile) c.3587A>T (p.Lys1196Ile) c.3593A>T (p.Lys1198Ile) | |
| 8 | g.115414294T>C | CA4851465 | TRPS1 | c.3614A>G (p.Lys1205Arg) c.3575A>G (p.Lys1192Arg) c.2837A>G (p.Lys946Arg) c.3587A>G (p.Lys1196Arg) c.3593A>G (p.Lys1198Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414294T>G | CA372062376 | TRPS1 | c.3614A>C (p.Lys1205Thr) c.3575A>C (p.Lys1192Thr) c.2837A>C (p.Lys946Thr) c.3587A>C (p.Lys1196Thr) c.3593A>C (p.Lys1198Thr) | |
| 8 | g.115414294T= | CA1812853739 | TRPS1 | c.3614A= (p.Lys1205=) c.3575A= (p.Lys1192=) c.2837A= (p.Lys946=) c.3587A= (p.Lys1196=) c.3593A= (p.Lys1198=) | |
| 8 | g.115414295T>A | CA372062378 | TRPS1 | c.3613A>T (p.Lys1205Ter) c.3574A>T (p.Lys1192Ter) c.2836A>T (p.Lys946Ter) c.3586A>T (p.Lys1196Ter) c.3592A>T (p.Lys1198Ter) | |
| 8 | g.115414295T>C | CA372062380 | TRPS1 | c.3613A>G (p.Lys1205Glu) c.3574A>G (p.Lys1192Glu) c.2836A>G (p.Lys946Glu) c.3586A>G (p.Lys1196Glu) c.3592A>G (p.Lys1198Glu) | |
| 8 | g.115414295T>G | CA372062379 | TRPS1 | c.3613A>C (p.Lys1205Gln) c.3574A>C (p.Lys1192Gln) c.2836A>C (p.Lys946Gln) c.3586A>C (p.Lys1196Gln) c.3592A>C (p.Lys1198Gln) | |
| 8 | g.115414296T>A | CA462658276 | TRPS1 | c.3612A>T (p.Val1204=) c.3573A>T (p.Val1191=) c.2835A>T (p.Val945=) c.3585A>T (p.Val1195=) c.3591A>T (p.Val1197=) | |
| 8 | g.115414296T>C | CA184469352 | TRPS1 | c.3612A>G (p.Val1204=) c.3573A>G (p.Val1191=) c.2835A>G (p.Val945=) c.3585A>G (p.Val1195=) c.3591A>G (p.Val1197=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414296T>G | CA462658279 | TRPS1 | c.3612A>C (p.Val1204=) c.3573A>C (p.Val1191=) c.2835A>C (p.Val945=) c.3585A>C (p.Val1195=) c.3591A>C (p.Val1197=) | |
| 8 | g.115414296T= | CA1812853740 | TRPS1 | c.3612A= (p.Val1204=) c.3573A= (p.Val1191=) c.2835A= (p.Val945=) c.3585A= (p.Val1195=) c.3591A= (p.Val1197=) | |
| 8 | g.115414297A>C | CA372062381 | TRPS1 | c.3611T>G (p.Val1204Gly) c.3572T>G (p.Val1191Gly) c.2834T>G (p.Val945Gly) c.3584T>G (p.Val1195Gly) c.3590T>G (p.Val1197Gly) | |
| 8 | g.115414297A>G | CA372062382 | TRPS1 | c.3611T>C (p.Val1204Ala) c.3572T>C (p.Val1191Ala) c.2834T>C (p.Val945Ala) c.3584T>C (p.Val1195Ala) c.3590T>C (p.Val1197Ala) | |
| 8 | g.115414297A>T | CA372062383 | TRPS1 | c.3611T>A (p.Val1204Glu) c.3572T>A (p.Val1191Glu) c.2834T>A (p.Val945Glu) c.3584T>A (p.Val1195Glu) c.3590T>A (p.Val1197Glu) | |
| 8 | g.115414298C>A | CA372062384 | TRPS1 | c.3610G>T (p.Val1204Leu) c.3571G>T (p.Val1191Leu) c.2833G>T (p.Val945Leu) c.3583G>T (p.Val1195Leu) c.3589G>T (p.Val1197Leu) | |
| 8 | g.115414298C= | CA1812853741 | TRPS1 | c.3610G= (p.Val1204=) c.3571G= (p.Val1191=) c.2833G= (p.Val945=) c.3583G= (p.Val1195=) c.3589G= (p.Val1197=) | |
| 8 | g.115414298C>G | CA372062385 | TRPS1 | c.3610G>C (p.Val1204Leu) c.3571G>C (p.Val1191Leu) c.2833G>C (p.Val945Leu) c.3583G>C (p.Val1195Leu) c.3589G>C (p.Val1197Leu) | |
| 8 | g.115414298C>T | CA4851466 | TRPS1 | c.3610G>A (p.Val1204Ile) c.3571G>A (p.Val1191Ile) c.2833G>A (p.Val945Ile) c.3583G>A (p.Val1195Ile) c.3589G>A (p.Val1197Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414299A>C | CA372062387 | TRPS1 | c.3609T>G (p.Asn1203Lys) c.3570T>G (p.Asn1190Lys) c.2832T>G (p.Asn944Lys) c.3582T>G (p.Asn1194Lys) c.3588T>G (p.Asn1196Lys) | |
| 8 | g.115414299A>G | CA462658282 | TRPS1 | c.3609T>C (p.Asn1203=) c.3570T>C (p.Asn1190=) c.2832T>C (p.Asn944=) c.3582T>C (p.Asn1194=) c.3588T>C (p.Asn1196=) | gnomAD v4 |
| 8 | g.115414299A>T | CA372062386 | TRPS1 | c.3609T>A (p.Asn1203Lys) c.3570T>A (p.Asn1190Lys) c.2832T>A (p.Asn944Lys) c.3582T>A (p.Asn1194Lys) c.3588T>A (p.Asn1196Lys) | |
| 8 | g.115414300T>A | CA372062388 | TRPS1 | c.3608A>T (p.Asn1203Ile) c.3569A>T (p.Asn1190Ile) c.2831A>T (p.Asn944Ile) c.3581A>T (p.Asn1194Ile) c.3587A>T (p.Asn1196Ile) | |
| 8 | g.115414300T>C | CA372062389 | TRPS1 | c.3608A>G (p.Asn1203Ser) c.3569A>G (p.Asn1190Ser) c.2831A>G (p.Asn944Ser) c.3581A>G (p.Asn1194Ser) c.3587A>G (p.Asn1196Ser) | |
| 8 | g.115414300T>G | CA372062390 | TRPS1 | c.3608A>C (p.Asn1203Thr) c.3569A>C (p.Asn1190Thr) c.2831A>C (p.Asn944Thr) c.3581A>C (p.Asn1194Thr) c.3587A>C (p.Asn1196Thr) | COSMIC COSMIC |
| 8 | g.115414301T>A | CA372062391 | TRPS1 | c.3607A>T (p.Asn1203Tyr) c.3568A>T (p.Asn1190Tyr) c.2830A>T (p.Asn944Tyr) c.3580A>T (p.Asn1194Tyr) c.3586A>T (p.Asn1196Tyr) | |
| 8 | g.115414301T>C | CA372062392 | TRPS1 | c.3607A>G (p.Asn1203Asp) c.3568A>G (p.Asn1190Asp) c.2830A>G (p.Asn944Asp) c.3580A>G (p.Asn1194Asp) c.3586A>G (p.Asn1196Asp) | |
| 8 | g.115414301T>G | CA372062393 | TRPS1 | c.3607A>C (p.Asn1203His) c.3568A>C (p.Asn1190His) c.2830A>C (p.Asn944His) c.3580A>C (p.Asn1194His) c.3586A>C (p.Asn1196His) | |
| 8 | g.115414302T>A | CA462658285 | TRPS1 | c.3606A>T (p.Pro1202=) c.3567A>T (p.Pro1189=) c.2829A>T (p.Pro943=) c.3579A>T (p.Pro1193=) c.3585A>T (p.Pro1195=) | |
| 8 | g.115414302T>C | CA462658286 | TRPS1 | c.3606A>G (p.Pro1202=) c.3567A>G (p.Pro1189=) c.2829A>G (p.Pro943=) c.3579A>G (p.Pro1193=) c.3585A>G (p.Pro1195=) | |
| 8 | g.115414302T>G | CA462658288 | TRPS1 | c.3606A>C (p.Pro1202=) c.3567A>C (p.Pro1189=) c.2829A>C (p.Pro943=) c.3579A>C (p.Pro1193=) c.3585A>C (p.Pro1195=) | |
| 8 | g.115414303G>A | CA372062396 | TRPS1 | c.3605C>T (p.Pro1202Leu) c.3566C>T (p.Pro1189Leu) c.2828C>T (p.Pro943Leu) c.3578C>T (p.Pro1193Leu) c.3584C>T (p.Pro1195Leu) | |
| 8 | g.115414303G>C | CA372062394 | TRPS1 | c.3605C>G (p.Pro1202Arg) c.3566C>G (p.Pro1189Arg) c.2828C>G (p.Pro943Arg) c.3578C>G (p.Pro1193Arg) c.3584C>G (p.Pro1195Arg) | |
| 8 | g.115414303G>T | CA372062395 | TRPS1 | c.3605C>A (p.Pro1202Gln) c.3566C>A (p.Pro1189Gln) c.2828C>A (p.Pro943Gln) c.3578C>A (p.Pro1193Gln) c.3584C>A (p.Pro1195Gln) | |
| 8 | g.115414304G>A | CA4851467 | TRPS1 | c.3604C>T (p.Pro1202Ser) c.3565C>T (p.Pro1189Ser) c.2827C>T (p.Pro943Ser) c.3577C>T (p.Pro1193Ser) c.3583C>T (p.Pro1195Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414304G>C | CA372062397 | TRPS1 | c.3604C>G (p.Pro1202Ala) c.3565C>G (p.Pro1189Ala) c.2827C>G (p.Pro943Ala) c.3577C>G (p.Pro1193Ala) c.3583C>G (p.Pro1195Ala) | |
| 8 | g.115414304G= | CA1812853742 | TRPS1 | c.3604C= (p.Pro1202=) c.3565C= (p.Pro1189=) c.2827C= (p.Pro943=) c.3577C= (p.Pro1193=) c.3583C= (p.Pro1195=) | |
| 8 | g.115414304G>T | CA372062398 | TRPS1 | c.3604C>A (p.Pro1202Thr) c.3565C>A (p.Pro1189Thr) c.2827C>A (p.Pro943Thr) c.3577C>A (p.Pro1193Thr) c.3583C>A (p.Pro1195Thr) | |
| 8 | g.115414305T>A | CA462658289 | TRPS1 | c.3603A>T (p.Pro1201=) c.3564A>T (p.Pro1188=) c.2826A>T (p.Pro942=) c.3576A>T (p.Pro1192=) c.3582A>T (p.Pro1194=) | |
| 8 | g.115414305T>C | CA462658291 | TRPS1 | c.3603A>G (p.Pro1201=) c.3564A>G (p.Pro1188=) c.2826A>G (p.Pro942=) c.3576A>G (p.Pro1192=) c.3582A>G (p.Pro1194=) | gnomAD v4 |
| 8 | g.115414305T>G | CA462658293 | TRPS1 | c.3603A>C (p.Pro1201=) c.3564A>C (p.Pro1188=) c.2826A>C (p.Pro942=) c.3576A>C (p.Pro1192=) c.3582A>C (p.Pro1194=) | |
| 8 | g.115414306G>A | CA372062399 | TRPS1 | c.3602C>T (p.Pro1201Leu) c.3563C>T (p.Pro1188Leu) c.2825C>T (p.Pro942Leu) c.3575C>T (p.Pro1192Leu) c.3581C>T (p.Pro1194Leu) | |
| 8 | g.115414306G>C | CA372062400 | TRPS1 | c.3602C>G (p.Pro1201Arg) c.3563C>G (p.Pro1188Arg) c.2825C>G (p.Pro942Arg) c.3575C>G (p.Pro1192Arg) c.3581C>G (p.Pro1194Arg) | |
| 8 | g.115414306G>T | CA372062401 | TRPS1 | c.3602C>A (p.Pro1201Gln) c.3563C>A (p.Pro1188Gln) c.2825C>A (p.Pro942Gln) c.3575C>A (p.Pro1192Gln) c.3581C>A (p.Pro1194Gln) | |
| 8 | g.115414307G>A | CA372062402 | TRPS1 | c.3601C>T (p.Pro1201Ser) c.3562C>T (p.Pro1188Ser) c.2824C>T (p.Pro942Ser) c.3574C>T (p.Pro1192Ser) c.3580C>T (p.Pro1194Ser) | gnomAD v4 |
| 8 | g.115414307G>C | CA372062403 | TRPS1 | c.3601C>G (p.Pro1201Ala) c.3562C>G (p.Pro1188Ala) c.2824C>G (p.Pro942Ala) c.3574C>G (p.Pro1192Ala) c.3580C>G (p.Pro1194Ala) | |
| 8 | g.115414307G>T | CA372062404 | TRPS1 | c.3601C>A (p.Pro1201Thr) c.3562C>A (p.Pro1188Thr) c.2824C>A (p.Pro942Thr) c.3574C>A (p.Pro1192Thr) c.3580C>A (p.Pro1194Thr) | gnomAD v4 |
| 8 | g.115414308T>A | CA462658295 | TRPS1 | c.3600A>T (p.Ala1200=) c.3561A>T (p.Ala1187=) c.2823A>T (p.Ala941=) c.3573A>T (p.Ala1191=) c.3579A>T (p.Ala1193=) | |
| 8 | g.115414308T>C | CA462658296 | TRPS1 | c.3600A>G (p.Ala1200=) c.3561A>G (p.Ala1187=) c.2823A>G (p.Ala941=) c.3573A>G (p.Ala1191=) c.3579A>G (p.Ala1193=) | gnomAD v4 |
| 8 | g.115414308T>G | CA462658297 | TRPS1 | c.3600A>C (p.Ala1200=) c.3561A>C (p.Ala1187=) c.2823A>C (p.Ala941=) c.3573A>C (p.Ala1191=) c.3579A>C (p.Ala1193=) | |
| 8 | g.115414309G>A | CA372062405 | TRPS1 | c.3599C>T (p.Ala1200Val) c.3560C>T (p.Ala1187Val) c.2822C>T (p.Ala941Val) c.3572C>T (p.Ala1191Val) c.3578C>T (p.Ala1193Val) | dbSNP |
| 8 | g.115414309G>C | CA372062406 | TRPS1 | c.3599C>G (p.Ala1200Gly) c.3560C>G (p.Ala1187Gly) c.2822C>G (p.Ala941Gly) c.3572C>G (p.Ala1191Gly) c.3578C>G (p.Ala1193Gly) | |
| 8 | g.115414309G= | CA1812853743 | TRPS1 | c.3599C= (p.Ala1200=) c.3560C= (p.Ala1187=) c.2822C= (p.Ala941=) c.3572C= (p.Ala1191=) c.3578C= (p.Ala1193=) | |
| 8 | g.115414309G>T | CA372062407 | TRPS1 | c.3599C>A (p.Ala1200Glu) c.3560C>A (p.Ala1187Glu) c.2822C>A (p.Ala941Glu) c.3572C>A (p.Ala1191Glu) c.3578C>A (p.Ala1193Glu) | |
| 8 | g.115414310C>A | CA372062408 | TRPS1 | c.3598G>T (p.Ala1200Ser) c.3559G>T (p.Ala1187Ser) c.2821G>T (p.Ala941Ser) c.3571G>T (p.Ala1191Ser) c.3577G>T (p.Ala1193Ser) | gnomAD v4 |
| 8 | g.115414310C= | CA1812853744 | TRPS1 | c.3598G= (p.Ala1200=) c.3559G= (p.Ala1187=) c.2821G= (p.Ala941=) c.3571G= (p.Ala1191=) c.3577G= (p.Ala1193=) | |
| 8 | g.115414310C>G | CA372062409 | TRPS1 | c.3598G>C (p.Ala1200Pro) c.3559G>C (p.Ala1187Pro) c.2821G>C (p.Ala941Pro) c.3571G>C (p.Ala1191Pro) c.3577G>C (p.Ala1193Pro) | |
| 8 | g.115414310C>T | CA4851468 | TRPS1 | c.3598G>A (p.Ala1200Thr) c.3559G>A (p.Ala1187Thr) c.2821G>A (p.Ala941Thr) c.3571G>A (p.Ala1191Thr) c.3577G>A (p.Ala1193Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414311C>A | CA372062410 | TRPS1 | c.3597G>T (p.Lys1199Asn) c.3558G>T (p.Lys1186Asn) c.2820G>T (p.Lys940Asn) c.3570G>T (p.Lys1190Asn) c.3576G>T (p.Lys1192Asn) | |
| 8 | g.115414311C>G | CA372062411 | TRPS1 | c.3597G>C (p.Lys1199Asn) c.3558G>C (p.Lys1186Asn) c.2820G>C (p.Lys940Asn) c.3570G>C (p.Lys1190Asn) c.3576G>C (p.Lys1192Asn) | |
| 8 | g.115414311C>T | CA462658301 | TRPS1 | c.3597G>A (p.Lys1199=) c.3558G>A (p.Lys1186=) c.2820G>A (p.Lys940=) c.3570G>A (p.Lys1190=) c.3576G>A (p.Lys1192=) | gnomAD v4 |
| 8 | g.115414313_115414321del | CA2830536377 | TRPS1 | c.3589_3597del (p.Lys1197_Lys1199del) c.3550_3558del (p.Lys1184_Lys1186del) c.2812_2820del (p.Lys938_Lys940del) c.3562_3570del (p.Lys1188_Lys1190del) c.3568_3576del (p.Lys1190_Lys1192del) | |
| 8 | g.115414312T>A | CA372062412 | TRPS1 | c.3596A>T (p.Lys1199Met) c.3557A>T (p.Lys1186Met) c.2819A>T (p.Lys940Met) c.3569A>T (p.Lys1190Met) c.3575A>T (p.Lys1192Met) | |
| 8 | g.115414312T>C | CA372062413 | TRPS1 | c.3596A>G (p.Lys1199Arg) c.3557A>G (p.Lys1186Arg) c.2819A>G (p.Lys940Arg) c.3569A>G (p.Lys1190Arg) c.3575A>G (p.Lys1192Arg) | |
| 8 | g.115414312T>G | CA372062414 | TRPS1 | c.3596A>C (p.Lys1199Thr) c.3557A>C (p.Lys1186Thr) c.2819A>C (p.Lys940Thr) c.3569A>C (p.Lys1190Thr) c.3575A>C (p.Lys1192Thr) | |
| 8 | g.115414313T>A | CA372062415 | TRPS1 | c.3595A>T (p.Lys1199Ter) c.3556A>T (p.Lys1186Ter) c.2818A>T (p.Lys940Ter) c.3568A>T (p.Lys1190Ter) c.3574A>T (p.Lys1192Ter) | |
| 8 | g.115414313T>C | CA372062416 | TRPS1 | c.3595A>G (p.Lys1199Glu) c.3556A>G (p.Lys1186Glu) c.2818A>G (p.Lys940Glu) c.3568A>G (p.Lys1190Glu) c.3574A>G (p.Lys1192Glu) | |
| 8 | g.115414313T>G | CA372062417 | TRPS1 | c.3595A>C (p.Lys1199Gln) c.3556A>C (p.Lys1186Gln) c.2818A>C (p.Lys940Gln) c.3568A>C (p.Lys1190Gln) c.3574A>C (p.Lys1192Gln) | |
| 8 | g.115414314C>A | CA462658303 | TRPS1 | c.3594G>T (p.Thr1198=) c.3555G>T (p.Thr1185=) c.2817G>T (p.Thr939=) c.3567G>T (p.Thr1189=) c.3573G>T (p.Thr1191=) | gnomAD v4 |
| 8 | g.115414314C= | CA1812853745 | TRPS1 | c.3594G= (p.Thr1198=) c.3555G= (p.Thr1185=) c.2817G= (p.Thr939=) c.3567G= (p.Thr1189=) c.3573G= (p.Thr1191=) | |
| 8 | g.115414314C>G | CA462658304 | TRPS1 | c.3594G>C (p.Thr1198=) c.3555G>C (p.Thr1185=) c.2817G>C (p.Thr939=) c.3567G>C (p.Thr1189=) c.3573G>C (p.Thr1191=) | COSMIC COSMIC |
| 8 | g.115414314C>T | CA4851469 | TRPS1 | c.3594G>A (p.Thr1198=) c.3555G>A (p.Thr1185=) c.2817G>A (p.Thr939=) c.3567G>A (p.Thr1189=) c.3573G>A (p.Thr1191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414315G>A | CA184469365 | TRPS1 | c.3593C>T (p.Thr1198Met) c.3554C>T (p.Thr1185Met) c.2816C>T (p.Thr939Met) c.3566C>T (p.Thr1189Met) c.3572C>T (p.Thr1191Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414315G>C | CA372062418 | TRPS1 | c.3593C>G (p.Thr1198Arg) c.3554C>G (p.Thr1185Arg) c.2816C>G (p.Thr939Arg) c.3566C>G (p.Thr1189Arg) c.3572C>G (p.Thr1191Arg) | |
| 8 | g.115414315G= | CA1812853746 | TRPS1 | c.3593C= (p.Thr1198=) c.3554C= (p.Thr1185=) c.2816C= (p.Thr939=) c.3566C= (p.Thr1189=) c.3572C= (p.Thr1191=) | |
| 8 | g.115414315G>T | CA372062419 | TRPS1 | c.3593C>A (p.Thr1198Lys) c.3554C>A (p.Thr1185Lys) c.2816C>A (p.Thr939Lys) c.3566C>A (p.Thr1189Lys) c.3572C>A (p.Thr1191Lys) | |
| 8 | g.115414316T>A | CA372062422 | TRPS1 | c.3592A>T (p.Thr1198Ser) c.3553A>T (p.Thr1185Ser) c.2815A>T (p.Thr939Ser) c.3565A>T (p.Thr1189Ser) c.3571A>T (p.Thr1191Ser) | |
| 8 | g.115414316T>C | CA372062420 | TRPS1 | c.3592A>G (p.Thr1198Ala) c.3553A>G (p.Thr1185Ala) c.2815A>G (p.Thr939Ala) c.3565A>G (p.Thr1189Ala) c.3571A>G (p.Thr1191Ala) | |
| 8 | g.115414316T>G | CA372062421 | TRPS1 | c.3592A>C (p.Thr1198Pro) c.3553A>C (p.Thr1185Pro) c.2815A>C (p.Thr939Pro) c.3565A>C (p.Thr1189Pro) c.3571A>C (p.Thr1191Pro) | COSMIC COSMIC |
| 8 | g.115414317T>A | CA372062423 | TRPS1 | c.3591A>T (p.Lys1197Asn) c.3552A>T (p.Lys1184Asn) c.2814A>T (p.Lys938Asn) c.3564A>T (p.Lys1188Asn) c.3570A>T (p.Lys1190Asn) | |
| 8 | g.115414317T>C | CA462658306 | TRPS1 | c.3591A>G (p.Lys1197=) c.3552A>G (p.Lys1184=) c.2814A>G (p.Lys938=) c.3564A>G (p.Lys1188=) c.3570A>G (p.Lys1190=) | |
| 8 | g.115414317T>G | CA372062424 | TRPS1 | c.3591A>C (p.Lys1197Asn) c.3552A>C (p.Lys1184Asn) c.2814A>C (p.Lys938Asn) c.3564A>C (p.Lys1188Asn) c.3570A>C (p.Lys1190Asn) | |
| 8 | g.115414318T>A | CA372062425 | TRPS1 | c.3590A>T (p.Lys1197Ile) c.3551A>T (p.Lys1184Ile) c.2813A>T (p.Lys938Ile) c.3563A>T (p.Lys1188Ile) c.3569A>T (p.Lys1190Ile) | |
| 8 | g.115414318T>C | CA372062426 | TRPS1 | c.3590A>G (p.Lys1197Arg) c.3551A>G (p.Lys1184Arg) c.2813A>G (p.Lys938Arg) c.3563A>G (p.Lys1188Arg) c.3569A>G (p.Lys1190Arg) | |
| 8 | g.115414318T>G | CA372062427 | TRPS1 | c.3590A>C (p.Lys1197Thr) c.3551A>C (p.Lys1184Thr) c.2813A>C (p.Lys938Thr) c.3563A>C (p.Lys1188Thr) c.3569A>C (p.Lys1190Thr) | |
| 8 | g.115414319T>A | CA372062428 | TRPS1 | c.3589A>T (p.Lys1197Ter) c.3550A>T (p.Lys1184Ter) c.2812A>T (p.Lys938Ter) c.3562A>T (p.Lys1188Ter) c.3568A>T (p.Lys1190Ter) | |
| 8 | g.115414319T>C | CA372062429 | TRPS1 | c.3589A>G (p.Lys1197Glu) c.3550A>G (p.Lys1184Glu) c.2812A>G (p.Lys938Glu) c.3562A>G (p.Lys1188Glu) c.3568A>G (p.Lys1190Glu) | |
| 8 | g.115414319T>G | CA372062430 | TRPS1 | c.3589A>C (p.Lys1197Gln) c.3550A>C (p.Lys1184Gln) c.2812A>C (p.Lys938Gln) c.3562A>C (p.Lys1188Gln) c.3568A>C (p.Lys1190Gln) | |
| 8 | g.115414320C>A | CA372062431 | TRPS1 | c.3588G>T (p.Glu1196Asp) c.3549G>T (p.Glu1183Asp) c.2811G>T (p.Glu937Asp) c.3561G>T (p.Glu1187Asp) c.3567G>T (p.Glu1189Asp) | COSMIC COSMIC |
| 8 | g.115414320C= | CA1812853747 | TRPS1 | c.3588G= (p.Glu1196=) c.3549G= (p.Glu1183=) c.2811G= (p.Glu937=) c.3561G= (p.Glu1187=) c.3567G= (p.Glu1189=) | |
| 8 | g.115414320C>G | CA184469369 | TRPS1 | c.3588G>C (p.Glu1196Asp) c.3549G>C (p.Glu1183Asp) c.2811G>C (p.Glu937Asp) c.3561G>C (p.Glu1187Asp) c.3567G>C (p.Glu1189Asp) | dbSNP |
| 8 | g.115414320C>T | CA462658308 | TRPS1 | c.3588G>A (p.Glu1196=) c.3549G>A (p.Glu1183=) c.2811G>A (p.Glu937=) c.3561G>A (p.Glu1187=) c.3567G>A (p.Glu1189=) | gnomAD v4 |
| 8 | g.115414321T>A | CA372062434 | TRPS1 | c.3587A>T (p.Glu1196Val) c.3548A>T (p.Glu1183Val) c.2810A>T (p.Glu937Val) c.3560A>T (p.Glu1187Val) c.3566A>T (p.Glu1189Val) | |
| 8 | g.115414321T>C | CA372062433 | TRPS1 | c.3587A>G (p.Glu1196Gly) c.3548A>G (p.Glu1183Gly) c.2810A>G (p.Glu937Gly) c.3560A>G (p.Glu1187Gly) c.3566A>G (p.Glu1189Gly) | gnomAD v4 |
| 8 | g.115414321T>G | CA372062432 | TRPS1 | c.3587A>C (p.Glu1196Ala) c.3548A>C (p.Glu1183Ala) c.2810A>C (p.Glu937Ala) c.3560A>C (p.Glu1187Ala) c.3566A>C (p.Glu1189Ala) | |
| 8 | g.115414322C>A | CA372062435 | TRPS1 | c.3586G>T (p.Glu1196Ter) c.3547G>T (p.Glu1183Ter) c.2809G>T (p.Glu937Ter) c.3559G>T (p.Glu1187Ter) c.3565G>T (p.Glu1189Ter) | |
| 8 | g.115414322C>G | CA372062436 | TRPS1 | c.3586G>C (p.Glu1196Gln) c.3547G>C (p.Glu1183Gln) c.2809G>C (p.Glu937Gln) c.3559G>C (p.Glu1187Gln) c.3565G>C (p.Glu1189Gln) | |
| 8 | g.115414322C>T | CA372062437 | TRPS1 | c.3586G>A (p.Glu1196Lys) c.3547G>A (p.Glu1183Lys) c.2809G>A (p.Glu937Lys) c.3559G>A (p.Glu1187Lys) c.3565G>A (p.Glu1189Lys) | gnomAD v4 |
| 8 | g.115414323C>A | CA372062438 | TRPS1 | c.3585G>T (p.Lys1195Asn) c.3546G>T (p.Lys1182Asn) c.2808G>T (p.Lys936Asn) c.3558G>T (p.Lys1186Asn) c.3564G>T (p.Lys1188Asn) | |
| 8 | g.115414323C= | CA1812853748 | TRPS1 | c.3585G= (p.Lys1195=) c.3546G= (p.Lys1182=) c.2808G= (p.Lys936=) c.3558G= (p.Lys1186=) c.3564G= (p.Lys1188=) | |
| 8 | g.115414323C>G | CA372062439 | TRPS1 | c.3585G>C (p.Lys1195Asn) c.3546G>C (p.Lys1182Asn) c.2808G>C (p.Lys936Asn) c.3558G>C (p.Lys1186Asn) c.3564G>C (p.Lys1188Asn) | COSMIC COSMIC |
| 8 | g.115414323C>T | CA462658310 | TRPS1 | c.3585G>A (p.Lys1195=) c.3546G>A (p.Lys1182=) c.2808G>A (p.Lys936=) c.3558G>A (p.Lys1186=) c.3564G>A (p.Lys1188=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414324T>A | CA372062441 | TRPS1 | c.3584A>T (p.Lys1195Met) c.3545A>T (p.Lys1182Met) c.2807A>T (p.Lys936Met) c.3557A>T (p.Lys1186Met) c.3563A>T (p.Lys1188Met) | |
| 8 | g.115414324T>C | CA184469374 | TRPS1 | c.3584A>G (p.Lys1195Arg) c.3545A>G (p.Lys1182Arg) c.2807A>G (p.Lys936Arg) c.3557A>G (p.Lys1186Arg) c.3563A>G (p.Lys1188Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.115414324T>G | CA372062440 | TRPS1 | c.3584A>C (p.Lys1195Thr) c.3545A>C (p.Lys1182Thr) c.2807A>C (p.Lys936Thr) c.3557A>C (p.Lys1186Thr) c.3563A>C (p.Lys1188Thr) | |
| 8 | g.115414324T= | CA1812853749 | TRPS1 | c.3584A= (p.Lys1195=) c.3545A= (p.Lys1182=) c.2807A= (p.Lys936=) c.3557A= (p.Lys1186=) c.3563A= (p.Lys1188=) | |
| 8 | g.115414325T>A | CA372062442 | TRPS1 | c.3583A>T (p.Lys1195Ter) c.3544A>T (p.Lys1182Ter) c.2806A>T (p.Lys936Ter) c.3556A>T (p.Lys1186Ter) c.3562A>T (p.Lys1188Ter) | |
| 8 | g.115414325T>C | CA372062443 | TRPS1 | c.3583A>G (p.Lys1195Glu) c.3544A>G (p.Lys1182Glu) c.2806A>G (p.Lys936Glu) c.3556A>G (p.Lys1186Glu) c.3562A>G (p.Lys1188Glu) | gnomAD v4 |
| 8 | g.115414325T>G | CA372062444 | TRPS1 | c.3583A>C (p.Lys1195Gln) c.3544A>C (p.Lys1182Gln) c.2806A>C (p.Lys936Gln) c.3556A>C (p.Lys1186Gln) c.3562A>C (p.Lys1188Gln) | |
| 8 | g.115414326G>A | CA462658312 | TRPS1 | c.3582C>T (p.Ser1194=) c.3543C>T (p.Ser1181=) c.2805C>T (p.Ser935=) c.3555C>T (p.Ser1185=) c.3561C>T (p.Ser1187=) | gnomAD v4 |
| 8 | g.115414326G>C | CA462658314 | TRPS1 | c.3582C>G (p.Ser1194=) c.3543C>G (p.Ser1181=) c.2805C>G (p.Ser935=) c.3555C>G (p.Ser1185=) c.3561C>G (p.Ser1187=) | |
| 8 | g.115414326G>T | CA462658313 | TRPS1 | c.3582C>A (p.Ser1194=) c.3543C>A (p.Ser1181=) c.2805C>A (p.Ser935=) c.3555C>A (p.Ser1185=) c.3561C>A (p.Ser1187=) | |
| 8 | g.115414327G>A | CA372062445 | TRPS1 | c.3581C>T (p.Ser1194Phe) c.3542C>T (p.Ser1181Phe) c.2804C>T (p.Ser935Phe) c.3554C>T (p.Ser1185Phe) c.3560C>T (p.Ser1187Phe) | |
| 8 | g.115414327G>C | CA372062446 | TRPS1 | c.3581C>G (p.Ser1194Cys) c.3542C>G (p.Ser1181Cys) c.2804C>G (p.Ser935Cys) c.3554C>G (p.Ser1185Cys) c.3560C>G (p.Ser1187Cys) | |
| 8 | g.115414327G>T | CA372062447 | TRPS1 | c.3581C>A (p.Ser1194Tyr) c.3542C>A (p.Ser1181Tyr) c.2804C>A (p.Ser935Tyr) c.3554C>A (p.Ser1185Tyr) c.3560C>A (p.Ser1187Tyr) | |
| 8 | g.115414328A= | CA1812853750 | TRPS1 | c.3580T= (p.Ser1194=) c.3541T= (p.Ser1181=) c.2803T= (p.Ser935=) c.3553T= (p.Ser1185=) c.3559T= (p.Ser1187=) | |
| 8 | g.115414328A>C | CA372062449 | TRPS1 | c.3580T>G (p.Ser1194Ala) c.3541T>G (p.Ser1181Ala) c.2803T>G (p.Ser935Ala) c.3553T>G (p.Ser1185Ala) c.3559T>G (p.Ser1187Ala) | |
| 8 | g.115414328A>G | CA4851470 | TRPS1 | c.3580T>C (p.Ser1194Pro) c.3541T>C (p.Ser1181Pro) c.2803T>C (p.Ser935Pro) c.3553T>C (p.Ser1185Pro) c.3559T>C (p.Ser1187Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414328A>T | CA372062448 | TRPS1 | c.3580T>A (p.Ser1194Thr) c.3541T>A (p.Ser1181Thr) c.2803T>A (p.Ser935Thr) c.3553T>A (p.Ser1185Thr) c.3559T>A (p.Ser1187Thr) | |
| 8 | g.115414329_115414330insAAAACGAAG | CA2830536378 | TRPS1 | c.3580_3581insTCGTTTTCT (p.Ala1193_Ser1194insPheValPhe) c.3541_3542insTCGTTTTCT (p.Ala1180_Ser1181insPheValPhe) c.2803_2804insTCGTTTTCT (p.Ala934_Ser935insPheValPhe) c.3553_3554insTCGTTTTCT (p.Ala1184_Ser1185insPheValPhe) c.3559_3560insTCGTTTTCT (p.Ala1186_Ser1187insPheValPhe) | |
| 8 | g.115414329G>A | CA462658317 | TRPS1 | c.3579C>T (p.Ala1193=) c.3540C>T (p.Ala1180=) c.2802C>T (p.Ala934=) c.3552C>T (p.Ala1184=) c.3558C>T (p.Ala1186=) | |
| 8 | g.115414329G>C | CA462658318 | TRPS1 | c.3579C>G (p.Ala1193=) c.3540C>G (p.Ala1180=) c.2802C>G (p.Ala934=) c.3552C>G (p.Ala1184=) c.3558C>G (p.Ala1186=) | |
| 8 | g.115414329G= | CA1812853751 | TRPS1 | c.3579C= (p.Ala1193=) c.3540C= (p.Ala1180=) c.2802C= (p.Ala934=) c.3552C= (p.Ala1184=) c.3558C= (p.Ala1186=) | |
| 8 | g.115414329G>T | CA462658320 | TRPS1 | c.3579C>A (p.Ala1193=) c.3540C>A (p.Ala1180=) c.2802C>A (p.Ala934=) c.3552C>A (p.Ala1184=) c.3558C>A (p.Ala1186=) | dbSNP |
| 8 | g.115414330G>A | CA372062450 | TRPS1 | c.3578C>T (p.Ala1193Val) c.3539C>T (p.Ala1180Val) c.2801C>T (p.Ala934Val) c.3551C>T (p.Ala1184Val) c.3557C>T (p.Ala1186Val) | |
| 8 | g.115414330G>C | CA372062451 | TRPS1 | c.3578C>G (p.Ala1193Gly) c.3539C>G (p.Ala1180Gly) c.2801C>G (p.Ala934Gly) c.3551C>G (p.Ala1184Gly) c.3557C>G (p.Ala1186Gly) | |
| 8 | g.115414330G>T | CA372062452 | TRPS1 | c.3578C>A (p.Ala1193Asp) c.3539C>A (p.Ala1180Asp) c.2801C>A (p.Ala934Asp) c.3551C>A (p.Ala1184Asp) c.3557C>A (p.Ala1186Asp) | |
| 8 | g.115414331C>A | CA372062453 | TRPS1 | c.3577G>T (p.Ala1193Ser) c.3538G>T (p.Ala1180Ser) c.2800G>T (p.Ala934Ser) c.3550G>T (p.Ala1184Ser) c.3556G>T (p.Ala1186Ser) | |
| 8 | g.115414331C>G | CA372062454 | TRPS1 | c.3577G>C (p.Ala1193Pro) c.3538G>C (p.Ala1180Pro) c.2800G>C (p.Ala934Pro) c.3550G>C (p.Ala1184Pro) c.3556G>C (p.Ala1186Pro) | |
| 8 | g.115414331C>T | CA372062455 | TRPS1 | c.3577G>A (p.Ala1193Thr) c.3538G>A (p.Ala1180Thr) c.2800G>A (p.Ala934Thr) c.3550G>A (p.Ala1184Thr) c.3556G>A (p.Ala1186Thr) | |
| 8 | g.115414332A>C | CA462658323 | TRPS1 | c.3576T>G (p.Gly1192=) c.3537T>G (p.Gly1179=) c.2799T>G (p.Gly933=) c.3549T>G (p.Gly1183=) c.3555T>G (p.Gly1185=) | |
| 8 | g.115414332A>G | CA462658324 | TRPS1 | c.3576T>C (p.Gly1192=) c.3537T>C (p.Gly1179=) c.2799T>C (p.Gly933=) c.3549T>C (p.Gly1183=) c.3555T>C (p.Gly1185=) | |
| 8 | g.115414332A>T | CA462658325 | TRPS1 | c.3576T>A (p.Gly1192=) c.3537T>A (p.Gly1179=) c.2799T>A (p.Gly933=) c.3549T>A (p.Gly1183=) c.3555T>A (p.Gly1185=) | |
| 8 | g.115414333C>A | CA372062456 | TRPS1 | c.3575G>T (p.Gly1192Val) c.3536G>T (p.Gly1179Val) c.2798G>T (p.Gly933Val) c.3548G>T (p.Gly1183Val) c.3554G>T (p.Gly1185Val) | |
| 8 | g.115414333C>G | CA372062457 | TRPS1 | c.3575G>C (p.Gly1192Ala) c.3536G>C (p.Gly1179Ala) c.2798G>C (p.Gly933Ala) c.3548G>C (p.Gly1183Ala) c.3554G>C (p.Gly1185Ala) | |
| 8 | g.115414333C>T | CA372062458 | TRPS1 | c.3575G>A (p.Gly1192Asp) c.3536G>A (p.Gly1179Asp) c.2798G>A (p.Gly933Asp) c.3548G>A (p.Gly1183Asp) c.3554G>A (p.Gly1185Asp) | |
| 8 | g.115414334C>A | CA372062459 | TRPS1 | c.3574G>T (p.Gly1192Cys) c.3535G>T (p.Gly1179Cys) c.2797G>T (p.Gly933Cys) c.3547G>T (p.Gly1183Cys) c.3553G>T (p.Gly1185Cys) | |
| 8 | g.115414334C= | CA1812853752 | TRPS1 | c.3574G= (p.Gly1192=) c.3535G= (p.Gly1179=) c.2797G= (p.Gly933=) c.3547G= (p.Gly1183=) c.3553G= (p.Gly1185=) | |
| 8 | g.115414334C>G | CA372062460 | TRPS1 | c.3574G>C (p.Gly1192Arg) c.3535G>C (p.Gly1179Arg) c.2797G>C (p.Gly933Arg) c.3547G>C (p.Gly1183Arg) c.3553G>C (p.Gly1185Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414334C>T | CA184469388 | TRPS1 | c.3574G>A (p.Gly1192Ser) c.3535G>A (p.Gly1179Ser) c.2797G>A (p.Gly933Ser) c.3547G>A (p.Gly1183Ser) c.3553G>A (p.Gly1185Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414335G>A | CA4851472 | TRPS1 | c.3573C>T (p.Asn1191=) c.3534C>T (p.Asn1178=) c.2796C>T (p.Asn932=) c.3546C>T (p.Asn1182=) c.3552C>T (p.Asn1184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414335G>C | CA372062461 | TRPS1 | c.3573C>G (p.Asn1191Lys) c.3534C>G (p.Asn1178Lys) c.2796C>G (p.Asn932Lys) c.3546C>G (p.Asn1182Lys) c.3552C>G (p.Asn1184Lys) | |
| 8 | g.115414335G= | CA1812853753 | TRPS1 | c.3573C= (p.Asn1191=) c.3534C= (p.Asn1178=) c.2796C= (p.Asn932=) c.3546C= (p.Asn1182=) c.3552C= (p.Asn1184=) | |
| 8 | g.115414335G>T | CA4851471 | TRPS1 | c.3573C>A (p.Asn1191Lys) c.3534C>A (p.Asn1178Lys) c.2796C>A (p.Asn932Lys) c.3546C>A (p.Asn1182Lys) c.3552C>A (p.Asn1184Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414336T>A | CA372062462 | TRPS1 | c.3572A>T (p.Asn1191Ile) c.3533A>T (p.Asn1178Ile) c.2795A>T (p.Asn932Ile) c.3545A>T (p.Asn1182Ile) c.3551A>T (p.Asn1184Ile) | gnomAD v4 |
| 8 | g.115414336T>C | CA372062463 | TRPS1 | c.3572A>G (p.Asn1191Ser) c.3533A>G (p.Asn1178Ser) c.2795A>G (p.Asn932Ser) c.3545A>G (p.Asn1182Ser) c.3551A>G (p.Asn1184Ser) | gnomAD v4 |
| 8 | g.115414336T>G | CA372062464 | TRPS1 | c.3572A>C (p.Asn1191Thr) c.3533A>C (p.Asn1178Thr) c.2795A>C (p.Asn932Thr) c.3545A>C (p.Asn1182Thr) c.3551A>C (p.Asn1184Thr) | |
| 8 | g.115414337T>A | CA372062465 | TRPS1 | c.3571A>T (p.Asn1191Tyr) c.3532A>T (p.Asn1178Tyr) c.2794A>T (p.Asn932Tyr) c.3544A>T (p.Asn1182Tyr) c.3550A>T (p.Asn1184Tyr) | |
| 8 | g.115414337T>C | CA372062466 | TRPS1 | c.3571A>G (p.Asn1191Asp) c.3532A>G (p.Asn1178Asp) c.2794A>G (p.Asn932Asp) c.3544A>G (p.Asn1182Asp) c.3550A>G (p.Asn1184Asp) | gnomAD v4 |
| 8 | g.115414337T>G | CA372062467 | TRPS1 | c.3571A>C (p.Asn1191His) c.3532A>C (p.Asn1178His) c.2794A>C (p.Asn932His) c.3544A>C (p.Asn1182His) c.3550A>C (p.Asn1184His) | |
| 8 | g.115414338T>A | CA462658329 | TRPS1 | c.3570A>T (p.Ala1190=) c.3531A>T (p.Ala1177=) c.2793A>T (p.Ala931=) c.3543A>T (p.Ala1181=) c.3549A>T (p.Ala1183=) | |
| 8 | g.115414338T>C | CA462658331 | TRPS1 | c.3570A>G (p.Ala1190=) c.3531A>G (p.Ala1177=) c.2793A>G (p.Ala931=) c.3543A>G (p.Ala1181=) c.3549A>G (p.Ala1183=) | |
| 8 | g.115414338T>G | CA462658333 | TRPS1 | c.3570A>C (p.Ala1190=) c.3531A>C (p.Ala1177=) c.2793A>C (p.Ala931=) c.3543A>C (p.Ala1181=) c.3549A>C (p.Ala1183=) | gnomAD v4 |
| 8 | g.115414339G>A | CA372062468 | TRPS1 | c.3569C>T (p.Ala1190Val) c.3530C>T (p.Ala1177Val) c.2792C>T (p.Ala931Val) c.3542C>T (p.Ala1181Val) c.3548C>T (p.Ala1183Val) | |
| 8 | g.115414339G>C | CA372062469 | TRPS1 | c.3569C>G (p.Ala1190Gly) c.3530C>G (p.Ala1177Gly) c.2792C>G (p.Ala931Gly) c.3542C>G (p.Ala1181Gly) c.3548C>G (p.Ala1183Gly) | |
| 8 | g.115414339G>T | CA372062470 | TRPS1 | c.3569C>A (p.Ala1190Glu) c.3530C>A (p.Ala1177Glu) c.2792C>A (p.Ala931Glu) c.3542C>A (p.Ala1181Glu) c.3548C>A (p.Ala1183Glu) | |
| 8 | g.115414340C>A | CA372062471 | TRPS1 | c.3568G>T (p.Ala1190Ser) c.3529G>T (p.Ala1177Ser) c.2791G>T (p.Ala931Ser) c.3541G>T (p.Ala1181Ser) c.3547G>T (p.Ala1183Ser) | |
| 8 | g.115414340C>G | CA372062472 | TRPS1 | c.3568G>C (p.Ala1190Pro) c.3529G>C (p.Ala1177Pro) c.2791G>C (p.Ala931Pro) c.3541G>C (p.Ala1181Pro) c.3547G>C (p.Ala1183Pro) | |
| 8 | g.115414340C>T | CA372062473 | TRPS1 | c.3568G>A (p.Ala1190Thr) c.3529G>A (p.Ala1177Thr) c.2791G>A (p.Ala931Thr) c.3541G>A (p.Ala1181Thr) c.3547G>A (p.Ala1183Thr) | |
| 8 | g.115414341A>C | CA462658335 | TRPS1 | c.3567T>G (p.Thr1189=) c.3528T>G (p.Thr1176=) c.2790T>G (p.Thr930=) c.3540T>G (p.Thr1180=) c.3546T>G (p.Thr1182=) | |
| 8 | g.115414341A>G | CA462658336 | TRPS1 | c.3567T>C (p.Thr1189=) c.3528T>C (p.Thr1176=) c.2790T>C (p.Thr930=) c.3540T>C (p.Thr1180=) c.3546T>C (p.Thr1182=) | gnomAD v4 |
| 8 | g.115414341A>T | CA462658338 | TRPS1 | c.3567T>A (p.Thr1189=) c.3528T>A (p.Thr1176=) c.2790T>A (p.Thr930=) c.3540T>A (p.Thr1180=) c.3546T>A (p.Thr1182=) | |
| 8 | g.115414342G>A | CA372062476 | TRPS1 | c.3566C>T (p.Thr1189Ile) c.3527C>T (p.Thr1176Ile) c.2789C>T (p.Thr930Ile) c.3539C>T (p.Thr1180Ile) c.3545C>T (p.Thr1182Ile) | gnomAD v4 |
| 8 | g.115414342G>C | CA372062474 | TRPS1 | c.3566C>G (p.Thr1189Ser) c.3527C>G (p.Thr1176Ser) c.2789C>G (p.Thr930Ser) c.3539C>G (p.Thr1180Ser) c.3545C>G (p.Thr1182Ser) | |
| 8 | g.115414342G>T | CA372062475 | TRPS1 | c.3566C>A (p.Thr1189Asn) c.3527C>A (p.Thr1176Asn) c.2789C>A (p.Thr930Asn) c.3539C>A (p.Thr1180Asn) c.3545C>A (p.Thr1182Asn) | |
| 8 | g.115414343T>A | CA372062477 | TRPS1 | c.3565A>T (p.Thr1189Ser) c.3526A>T (p.Thr1176Ser) c.2788A>T (p.Thr930Ser) c.3538A>T (p.Thr1180Ser) c.3544A>T (p.Thr1182Ser) | |
| 8 | g.115414343T>C | CA372062478 | TRPS1 | c.3565A>G (p.Thr1189Ala) c.3526A>G (p.Thr1176Ala) c.2788A>G (p.Thr930Ala) c.3538A>G (p.Thr1180Ala) c.3544A>G (p.Thr1182Ala) | |
| 8 | g.115414343T>G | CA372062479 | TRPS1 | c.3565A>C (p.Thr1189Pro) c.3526A>C (p.Thr1176Pro) c.2788A>C (p.Thr930Pro) c.3538A>C (p.Thr1180Pro) c.3544A>C (p.Thr1182Pro) | |
| 8 | g.115414344T>A | CA462658341 | TRPS1 | c.3564A>T (p.Pro1188=) c.3525A>T (p.Pro1175=) c.2787A>T (p.Pro929=) c.3537A>T (p.Pro1179=) c.3543A>T (p.Pro1181=) | |
| 8 | g.115414344T>C | CA462658342 | TRPS1 | c.3564A>G (p.Pro1188=) c.3525A>G (p.Pro1175=) c.2787A>G (p.Pro929=) c.3537A>G (p.Pro1179=) c.3543A>G (p.Pro1181=) | |
| 8 | g.115414344T>G | CA462658344 | TRPS1 | c.3564A>C (p.Pro1188=) c.3525A>C (p.Pro1175=) c.2787A>C (p.Pro929=) c.3537A>C (p.Pro1179=) c.3543A>C (p.Pro1181=) | |
| 8 | g.115414345G>A | CA372062480 | TRPS1 | c.3563C>T (p.Pro1188Leu) c.3524C>T (p.Pro1175Leu) c.2786C>T (p.Pro929Leu) c.3536C>T (p.Pro1179Leu) c.3542C>T (p.Pro1181Leu) | |
| 8 | g.115414345G>C | CA372062481 | TRPS1 | c.3563C>G (p.Pro1188Arg) c.3524C>G (p.Pro1175Arg) c.2786C>G (p.Pro929Arg) c.3536C>G (p.Pro1179Arg) c.3542C>G (p.Pro1181Arg) | |
| 8 | g.115414345G>T | CA372062482 | TRPS1 | c.3563C>A (p.Pro1188Gln) c.3524C>A (p.Pro1175Gln) c.2786C>A (p.Pro929Gln) c.3536C>A (p.Pro1179Gln) c.3542C>A (p.Pro1181Gln) | gnomAD v4 |
| 8 | g.115414346G>A | CA372062483 | TRPS1 | c.3562C>T (p.Pro1188Ser) c.3523C>T (p.Pro1175Ser) c.2785C>T (p.Pro929Ser) c.3535C>T (p.Pro1179Ser) c.3541C>T (p.Pro1181Ser) | COSMIC COSMIC |
| 8 | g.115414346G>C | CA372062484 | TRPS1 | c.3562C>G (p.Pro1188Ala) c.3523C>G (p.Pro1175Ala) c.2785C>G (p.Pro929Ala) c.3535C>G (p.Pro1179Ala) c.3541C>G (p.Pro1181Ala) | |
| 8 | g.115414346G>T | CA372062485 | TRPS1 | c.3562C>A (p.Pro1188Thr) c.3523C>A (p.Pro1175Thr) c.2785C>A (p.Pro929Thr) c.3535C>A (p.Pro1179Thr) c.3541C>A (p.Pro1181Thr) | COSMIC COSMIC |
| 8 | g.115414347C>A | CA462658348 | TRPS1 | c.3561G>T (p.Gly1187=) c.3522G>T (p.Gly1174=) c.2784G>T (p.Gly928=) c.3534G>T (p.Gly1178=) c.3540G>T (p.Gly1180=) | |
| 8 | g.115414347C>G | CA462658350 | TRPS1 | c.3561G>C (p.Gly1187=) c.3522G>C (p.Gly1174=) c.2784G>C (p.Gly928=) c.3534G>C (p.Gly1178=) c.3540G>C (p.Gly1180=) | |
| 8 | g.115414347C>T | CA462658347 | TRPS1 | c.3561G>A (p.Gly1187=) c.3522G>A (p.Gly1174=) c.2784G>A (p.Gly928=) c.3534G>A (p.Gly1178=) c.3540G>A (p.Gly1180=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.115414348C>A | CA372062486 | TRPS1 | c.3560G>T (p.Gly1187Val) c.3521G>T (p.Gly1174Val) c.2783G>T (p.Gly928Val) c.3533G>T (p.Gly1178Val) c.3539G>T (p.Gly1180Val) | |
| 8 | g.115414348C= | CA1812853754 | TRPS1 | c.3560G= (p.Gly1187=) c.3521G= (p.Gly1174=) c.2783G= (p.Gly928=) c.3533G= (p.Gly1178=) c.3539G= (p.Gly1180=) | |
| 8 | g.115414348C>G | CA372062487 | TRPS1 | c.3560G>C (p.Gly1187Ala) c.3521G>C (p.Gly1174Ala) c.2783G>C (p.Gly928Ala) c.3533G>C (p.Gly1178Ala) c.3539G>C (p.Gly1180Ala) | |
| 8 | g.115414348C>T | CA372062488 | TRPS1 | c.3560G>A (p.Gly1187Glu) c.3521G>A (p.Gly1174Glu) c.2783G>A (p.Gly928Glu) c.3533G>A (p.Gly1178Glu) c.3539G>A (p.Gly1180Glu) | dbSNP gnomAD v4 |
| 8 | g.115414349C>A | CA372062490 | TRPS1 | c.3559G>T (p.Gly1187Trp) c.3520G>T (p.Gly1174Trp) c.2782G>T (p.Gly928Trp) c.3532G>T (p.Gly1178Trp) c.3538G>T (p.Gly1180Trp) | |
| 8 | g.115414349C>G | CA372062491 | TRPS1 | c.3559G>C (p.Gly1187Arg) c.3520G>C (p.Gly1174Arg) c.2782G>C (p.Gly928Arg) c.3532G>C (p.Gly1178Arg) c.3538G>C (p.Gly1180Arg) | |
| 8 | g.115414349C>T | CA372062489 | TRPS1 | c.3559G>A (p.Gly1187Arg) c.3520G>A (p.Gly1174Arg) c.2782G>A (p.Gly928Arg) c.3532G>A (p.Gly1178Arg) c.3538G>A (p.Gly1180Arg) | |
| 8 | g.115414349_115414352dup | CA2580078538 | TRPS1 | c.3556_3559dup (p.Gly1187AlafsTer22) c.3517_3520dup (p.Gly1174AlafsTer22) c.2779_2782dup (p.Gly928AlafsTer22) c.3529_3532dup (p.Gly1178AlafsTer22) c.3535_3538dup (p.Gly1180AlafsTer22) | ClinVar |
| 8 | g.115414350A>C | CA462658354 | TRPS1 | c.3558T>G (p.Pro1186=) c.3519T>G (p.Pro1173=) c.2781T>G (p.Pro927=) c.3531T>G (p.Pro1177=) c.3537T>G (p.Pro1179=) | |
| 8 | g.115414350A>G | CA462658352 | TRPS1 | c.3558T>C (p.Pro1186=) c.3519T>C (p.Pro1173=) c.2781T>C (p.Pro927=) c.3531T>C (p.Pro1177=) c.3537T>C (p.Pro1179=) | |
| 8 | g.115414350A>T | CA462658351 | TRPS1 | c.3558T>A (p.Pro1186=) c.3519T>A (p.Pro1173=) c.2781T>A (p.Pro927=) c.3531T>A (p.Pro1177=) c.3537T>A (p.Pro1179=) | |
| 8 | g.115414351G>A | CA372062493 | TRPS1 | c.3557C>T (p.Pro1186Leu) c.3518C>T (p.Pro1173Leu) c.2780C>T (p.Pro927Leu) c.3530C>T (p.Pro1177Leu) c.3536C>T (p.Pro1179Leu) | |
| 8 | g.115414351G>C | CA372062492 | TRPS1 | c.3557C>G (p.Pro1186Arg) c.3518C>G (p.Pro1173Arg) c.2780C>G (p.Pro927Arg) c.3530C>G (p.Pro1177Arg) c.3536C>G (p.Pro1179Arg) | gnomAD v4 |
| 8 | g.115414351G>T | CA372062494 | TRPS1 | c.3557C>A (p.Pro1186His) c.3518C>A (p.Pro1173His) c.2780C>A (p.Pro927His) c.3530C>A (p.Pro1177His) c.3536C>A (p.Pro1179His) | |
| 8 | g.115414352G>A | CA372062495 | TRPS1 | c.3556C>T (p.Pro1186Ser) c.3517C>T (p.Pro1173Ser) c.2779C>T (p.Pro927Ser) c.3529C>T (p.Pro1177Ser) c.3535C>T (p.Pro1179Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414352G>C | CA372062496 | TRPS1 | c.3556C>G (p.Pro1186Ala) c.3517C>G (p.Pro1173Ala) c.2779C>G (p.Pro927Ala) c.3529C>G (p.Pro1177Ala) c.3535C>G (p.Pro1179Ala) | |
| 8 | g.115414352G= | CA1812853755 | TRPS1 | c.3556C= (p.Pro1186=) c.3517C= (p.Pro1173=) c.2779C= (p.Pro927=) c.3529C= (p.Pro1177=) c.3535C= (p.Pro1179=) | |
| 8 | g.115414352G>T | CA372062497 | TRPS1 | c.3556C>A (p.Pro1186Thr) c.3517C>A (p.Pro1173Thr) c.2779C>A (p.Pro927Thr) c.3529C>A (p.Pro1177Thr) c.3535C>A (p.Pro1179Thr) | |
| 8 | g.115414353T>A | CA372062498 | TRPS1 | c.3555A>T (p.Arg1185Ser) c.3516A>T (p.Arg1172Ser) c.2778A>T (p.Arg926Ser) c.3528A>T (p.Arg1176Ser) c.3534A>T (p.Arg1178Ser) | |
| 8 | g.115414353T>C | CA4851473 | TRPS1 | c.3555A>G (p.Arg1185=) c.3516A>G (p.Arg1172=) c.2778A>G (p.Arg926=) c.3528A>G (p.Arg1176=) c.3534A>G (p.Arg1178=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414353T>G | CA372062499 | TRPS1 | c.3555A>C (p.Arg1185Ser) c.3516A>C (p.Arg1172Ser) c.2778A>C (p.Arg926Ser) c.3528A>C (p.Arg1176Ser) c.3534A>C (p.Arg1178Ser) | |
| 8 | g.115414353T= | CA1812853756 | TRPS1 | c.3555A= (p.Arg1185=) c.3516A= (p.Arg1172=) c.2778A= (p.Arg926=) c.3528A= (p.Arg1176=) c.3534A= (p.Arg1178=) | |
| 8 | g.115414354C>A | CA372062502 | TRPS1 | c.3554G>T (p.Arg1185Ile) c.3515G>T (p.Arg1172Ile) c.2777G>T (p.Arg926Ile) c.3527G>T (p.Arg1176Ile) c.3533G>T (p.Arg1178Ile) | COSMIC COSMIC |
| 8 | g.115414354C>G | CA372062500 | TRPS1 | c.3554G>C (p.Arg1185Thr) c.3515G>C (p.Arg1172Thr) c.2777G>C (p.Arg926Thr) c.3527G>C (p.Arg1176Thr) c.3533G>C (p.Arg1178Thr) | |
| 8 | g.115414354C>T | CA372062501 | TRPS1 | c.3554G>A (p.Arg1185Lys) c.3515G>A (p.Arg1172Lys) c.2777G>A (p.Arg926Lys) c.3527G>A (p.Arg1176Lys) c.3533G>A (p.Arg1178Lys) | |
| 8 | g.115414355T>A | CA372062503 | TRPS1 | c.3553A>T (p.Arg1185Ter) c.3514A>T (p.Arg1172Ter) c.2776A>T (p.Arg926Ter) c.3526A>T (p.Arg1176Ter) c.3532A>T (p.Arg1178Ter) | |
| 8 | g.115414355T>C | CA372062504 | TRPS1 | c.3553A>G (p.Arg1185Gly) c.3514A>G (p.Arg1172Gly) c.2776A>G (p.Arg926Gly) c.3526A>G (p.Arg1176Gly) c.3532A>G (p.Arg1178Gly) | |
| 8 | g.115414355T>G | CA462658358 | TRPS1 | c.3553A>C (p.Arg1185=) c.3514A>C (p.Arg1172=) c.2776A>C (p.Arg926=) c.3526A>C (p.Arg1176=) c.3532A>C (p.Arg1178=) | |
| 8 | g.115414356G>A | CA462658360 | TRPS1 | c.3552C>T (p.Ser1184=) c.3513C>T (p.Ser1171=) c.2775C>T (p.Ser925=) c.3525C>T (p.Ser1175=) c.3531C>T (p.Ser1177=) | |
| 8 | g.115414356G>C | CA462658361 | TRPS1 | c.3552C>G (p.Ser1184=) c.3513C>G (p.Ser1171=) c.2775C>G (p.Ser925=) c.3525C>G (p.Ser1175=) c.3531C>G (p.Ser1177=) | |
| 8 | g.115414356G>T | CA462658362 | TRPS1 | c.3552C>A (p.Ser1184=) c.3513C>A (p.Ser1171=) c.2775C>A (p.Ser925=) c.3525C>A (p.Ser1175=) c.3531C>A (p.Ser1177=) | |
| 8 | g.115414357G>A | CA372062505 | TRPS1 | c.3551C>T (p.Ser1184Phe) c.3512C>T (p.Ser1171Phe) c.2774C>T (p.Ser925Phe) c.3524C>T (p.Ser1175Phe) c.3530C>T (p.Ser1177Phe) | gnomAD v4 |
| 8 | g.115414357G>C | CA372062506 | TRPS1 | c.3551C>G (p.Ser1184Cys) c.3512C>G (p.Ser1171Cys) c.2774C>G (p.Ser925Cys) c.3524C>G (p.Ser1175Cys) c.3530C>G (p.Ser1177Cys) | |
| 8 | g.115414357G>T | CA372062507 | TRPS1 | c.3551C>A (p.Ser1184Tyr) c.3512C>A (p.Ser1171Tyr) c.2774C>A (p.Ser925Tyr) c.3524C>A (p.Ser1175Tyr) c.3530C>A (p.Ser1177Tyr) | |
| 8 | g.115414358A>C | CA372062510 | TRPS1 | c.3550T>G (p.Ser1184Ala) c.3511T>G (p.Ser1171Ala) c.2773T>G (p.Ser925Ala) c.3523T>G (p.Ser1175Ala) c.3529T>G (p.Ser1177Ala) | |
| 8 | g.115414358A>G | CA372062508 | TRPS1 | c.3550T>C (p.Ser1184Pro) c.3511T>C (p.Ser1171Pro) c.2773T>C (p.Ser925Pro) c.3523T>C (p.Ser1175Pro) c.3529T>C (p.Ser1177Pro) | |
| 8 | g.115414358A>T | CA372062509 | TRPS1 | c.3550T>A (p.Ser1184Thr) c.3511T>A (p.Ser1171Thr) c.2773T>A (p.Ser925Thr) c.3523T>A (p.Ser1175Thr) c.3529T>A (p.Ser1177Thr) | |
| 8 | g.115414359A>C | CA372062511 | TRPS1 | c.3549T>G (p.His1183Gln) c.3510T>G (p.His1170Gln) c.2772T>G (p.His924Gln) c.3522T>G (p.His1174Gln) c.3528T>G (p.His1176Gln) | |
| 8 | g.115414359A>G | CA462658364 | TRPS1 | c.3549T>C (p.His1183=) c.3510T>C (p.His1170=) c.2772T>C (p.His924=) c.3522T>C (p.His1174=) c.3528T>C (p.His1176=) | |
| 8 | g.115414359A>T | CA372062512 | TRPS1 | c.3549T>A (p.His1183Gln) c.3510T>A (p.His1170Gln) c.2772T>A (p.His924Gln) c.3522T>A (p.His1174Gln) c.3528T>A (p.His1176Gln) | |
| 8 | g.115414360T>A | CA372062513 | TRPS1 | c.3548A>T (p.His1183Leu) c.3509A>T (p.His1170Leu) c.2771A>T (p.His924Leu) c.3521A>T (p.His1174Leu) c.3527A>T (p.His1176Leu) | |
| 8 | g.115414360T>C | CA372062514 | TRPS1 | c.3548A>G (p.His1183Arg) c.3509A>G (p.His1170Arg) c.2771A>G (p.His924Arg) c.3521A>G (p.His1174Arg) c.3527A>G (p.His1176Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414360T>G | CA372062515 | TRPS1 | c.3548A>C (p.His1183Pro) c.3509A>C (p.His1170Pro) c.2771A>C (p.His924Pro) c.3521A>C (p.His1174Pro) c.3527A>C (p.His1176Pro) | dbSNP |
| 8 | g.115414360T= | CA1812853757 | TRPS1 | c.3548A= (p.His1183=) c.3509A= (p.His1170=) c.2771A= (p.His924=) c.3521A= (p.His1174=) c.3527A= (p.His1176=) | |
| 8 | g.115414361G>A | CA372062516 | TRPS1 | c.3547C>T (p.His1183Tyr) c.3508C>T (p.His1170Tyr) c.2770C>T (p.His924Tyr) c.3520C>T (p.His1174Tyr) c.3526C>T (p.His1176Tyr) | |
| 8 | g.115414361G>C | CA372062517 | TRPS1 | c.3547C>G (p.His1183Asp) c.3508C>G (p.His1170Asp) c.2770C>G (p.His924Asp) c.3520C>G (p.His1174Asp) c.3526C>G (p.His1176Asp) | |
| 8 | g.115414361G>T | CA372062518 | TRPS1 | c.3547C>A (p.His1183Asn) c.3508C>A (p.His1170Asn) c.2770C>A (p.His924Asn) c.3520C>A (p.His1174Asn) c.3526C>A (p.His1176Asn) | |
| 8 | g.115414362C>A | CA372062519 | TRPS1 | c.3546G>T (p.Lys1182Asn) c.3507G>T (p.Lys1169Asn) c.2769G>T (p.Lys923Asn) c.3519G>T (p.Lys1173Asn) c.3525G>T (p.Lys1175Asn) | |
| 8 | g.115414362C>G | CA372062520 | TRPS1 | c.3546G>C (p.Lys1182Asn) c.3507G>C (p.Lys1169Asn) c.2769G>C (p.Lys923Asn) c.3519G>C (p.Lys1173Asn) c.3525G>C (p.Lys1175Asn) | |
| 8 | g.115414362C>T | CA462658367 | TRPS1 | c.3546G>A (p.Lys1182=) c.3507G>A (p.Lys1169=) c.2769G>A (p.Lys923=) c.3519G>A (p.Lys1173=) c.3525G>A (p.Lys1175=) | |
| 8 | g.115414363T>A | CA372062521 | TRPS1 | c.3545A>T (p.Lys1182Met) c.3506A>T (p.Lys1169Met) c.2768A>T (p.Lys923Met) c.3518A>T (p.Lys1173Met) c.3524A>T (p.Lys1175Met) | |
| 8 | g.115414363T>C | CA372062522 | TRPS1 | c.3545A>G (p.Lys1182Arg) c.3506A>G (p.Lys1169Arg) c.2768A>G (p.Lys923Arg) c.3518A>G (p.Lys1173Arg) c.3524A>G (p.Lys1175Arg) | dbSNP |
| 8 | g.115414363T>G | CA372062523 | TRPS1 | c.3545A>C (p.Lys1182Thr) c.3506A>C (p.Lys1169Thr) c.2768A>C (p.Lys923Thr) c.3518A>C (p.Lys1173Thr) c.3524A>C (p.Lys1175Thr) | |
| 8 | g.115414363T= | CA1812853758 | TRPS1 | c.3545A= (p.Lys1182=) c.3506A= (p.Lys1169=) c.2768A= (p.Lys923=) c.3518A= (p.Lys1173=) c.3524A= (p.Lys1175=) | |
| 8 | g.115414364T>A | CA372062524 | TRPS1 | c.3544A>T (p.Lys1182Ter) c.3505A>T (p.Lys1169Ter) c.2767A>T (p.Lys923Ter) c.3517A>T (p.Lys1173Ter) c.3523A>T (p.Lys1175Ter) | |
| 8 | g.115414364T>C | CA184469420 | TRPS1 | c.3544A>G (p.Lys1182Glu) c.3505A>G (p.Lys1169Glu) c.2767A>G (p.Lys923Glu) c.3517A>G (p.Lys1173Glu) c.3523A>G (p.Lys1175Glu) | dbSNP gnomAD v4 |
| 8 | g.115414364T>G | CA372062525 | TRPS1 | c.3544A>C (p.Lys1182Gln) c.3505A>C (p.Lys1169Gln) c.2767A>C (p.Lys923Gln) c.3517A>C (p.Lys1173Gln) c.3523A>C (p.Lys1175Gln) | |
| 8 | g.115414364T= | CA1812853759 | TRPS1 | c.3544A= (p.Lys1182=) c.3505A= (p.Lys1169=) c.2767A= (p.Lys923=) c.3517A= (p.Lys1173=) c.3523A= (p.Lys1175=) | |
| 8 | g.115414365G>A | CA462658370 | TRPS1 | c.3543C>T (p.Ile1181=) c.3504C>T (p.Ile1168=) c.2766C>T (p.Ile922=) c.3516C>T (p.Ile1172=) c.3522C>T (p.Ile1174=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414365G>C | CA372062526 | TRPS1 | c.3543C>G (p.Ile1181Met) c.3504C>G (p.Ile1168Met) c.2766C>G (p.Ile922Met) c.3516C>G (p.Ile1172Met) c.3522C>G (p.Ile1174Met) | dbSNP gnomAD v4 |
| 8 | g.115414365G= | CA1812853760 | TRPS1 | c.3543C= (p.Ile1181=) c.3504C= (p.Ile1168=) c.2766C= (p.Ile922=) c.3516C= (p.Ile1172=) c.3522C= (p.Ile1174=) | |
| 8 | g.115414365G>T | CA462658372 | TRPS1 | c.3543C>A (p.Ile1181=) c.3504C>A (p.Ile1168=) c.2766C>A (p.Ile922=) c.3516C>A (p.Ile1172=) c.3522C>A (p.Ile1174=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414366A>C | CA372062527 | TRPS1 | c.3542T>G (p.Ile1181Ser) c.3503T>G (p.Ile1168Ser) c.2765T>G (p.Ile922Ser) c.3515T>G (p.Ile1172Ser) c.3521T>G (p.Ile1174Ser) | |
| 8 | g.115414366A>G | CA372062528 | TRPS1 | c.3542T>C (p.Ile1181Thr) c.3503T>C (p.Ile1168Thr) c.2765T>C (p.Ile922Thr) c.3515T>C (p.Ile1172Thr) c.3521T>C (p.Ile1174Thr) | |
| 8 | g.115414366A>T | CA372062529 | TRPS1 | c.3542T>A (p.Ile1181Asn) c.3503T>A (p.Ile1168Asn) c.2765T>A (p.Ile922Asn) c.3515T>A (p.Ile1172Asn) c.3521T>A (p.Ile1174Asn) | |
| 8 | g.115414367T>A | CA372062530 | TRPS1 | c.3541A>T (p.Ile1181Phe) c.3502A>T (p.Ile1168Phe) c.2764A>T (p.Ile922Phe) c.3514A>T (p.Ile1172Phe) c.3520A>T (p.Ile1174Phe) | |
| 8 | g.115414367T>C | CA372062531 | TRPS1 | c.3541A>G (p.Ile1181Val) c.3502A>G (p.Ile1168Val) c.2764A>G (p.Ile922Val) c.3514A>G (p.Ile1172Val) c.3520A>G (p.Ile1174Val) | gnomAD v4 |
| 8 | g.115414367T>G | CA372062532 | TRPS1 | c.3541A>C (p.Ile1181Leu) c.3502A>C (p.Ile1168Leu) c.2764A>C (p.Ile922Leu) c.3514A>C (p.Ile1172Leu) c.3520A>C (p.Ile1174Leu) | |
| 8 | g.115414368C>A | CA462658373 | TRPS1 | c.3540G>T (p.Ala1180=) c.3501G>T (p.Ala1167=) c.2763G>T (p.Ala921=) c.3513G>T (p.Ala1171=) c.3519G>T (p.Ala1173=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 8 | g.115414368C= | CA1812853761 | TRPS1 | c.3540G= (p.Ala1180=) c.3501G= (p.Ala1167=) c.2763G= (p.Ala921=) c.3513G= (p.Ala1171=) c.3519G= (p.Ala1173=) | |
| 8 | g.115414368C>G | CA4851474 | TRPS1 | c.3540G>C (p.Ala1180=) c.3501G>C (p.Ala1167=) c.2763G>C (p.Ala921=) c.3513G>C (p.Ala1171=) c.3519G>C (p.Ala1173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414368C>T | CA184469432 | TRPS1 | c.3540G>A (p.Ala1180=) c.3501G>A (p.Ala1167=) c.2763G>A (p.Ala921=) c.3513G>A (p.Ala1171=) c.3519G>A (p.Ala1173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414369G>A | CA372062533 | TRPS1 | c.3539C>T (p.Ala1180Val) c.3500C>T (p.Ala1167Val) c.2762C>T (p.Ala921Val) c.3512C>T (p.Ala1171Val) c.3518C>T (p.Ala1173Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414369G>C | CA372062534 | TRPS1 | c.3539C>G (p.Ala1180Gly) c.3500C>G (p.Ala1167Gly) c.2762C>G (p.Ala921Gly) c.3512C>G (p.Ala1171Gly) c.3518C>G (p.Ala1173Gly) | |
| 8 | g.115414369G= | CA1812853762 | TRPS1 | c.3539C= (p.Ala1180=) c.3500C= (p.Ala1167=) c.2762C= (p.Ala921=) c.3512C= (p.Ala1171=) c.3518C= (p.Ala1173=) | |
| 8 | g.115414369G>T | CA372062535 | TRPS1 | c.3539C>A (p.Ala1180Glu) c.3500C>A (p.Ala1167Glu) c.2762C>A (p.Ala921Glu) c.3512C>A (p.Ala1171Glu) c.3518C>A (p.Ala1173Glu) | |
| 8 | g.115414370C>A | CA372062538 | TRPS1 | c.3538G>T (p.Ala1180Ser) c.3499G>T (p.Ala1167Ser) c.2761G>T (p.Ala921Ser) c.3511G>T (p.Ala1171Ser) c.3517G>T (p.Ala1173Ser) | |
| 8 | g.115414370C>G | CA372062537 | TRPS1 | c.3538G>C (p.Ala1180Pro) c.3499G>C (p.Ala1167Pro) c.2761G>C (p.Ala921Pro) c.3511G>C (p.Ala1171Pro) c.3517G>C (p.Ala1173Pro) | |
| 8 | g.115414370C>T | CA372062536 | TRPS1 | c.3538G>A (p.Ala1180Thr) c.3499G>A (p.Ala1167Thr) c.2761G>A (p.Ala921Thr) c.3511G>A (p.Ala1171Thr) c.3517G>A (p.Ala1173Thr) | |
| 8 | g.115414371C>A | CA372062539 | TRPS1 | c.3537G>T (p.Leu1179Phe) c.3498G>T (p.Leu1166Phe) c.2760G>T (p.Leu920Phe) c.3510G>T (p.Leu1170Phe) c.3516G>T (p.Leu1172Phe) | |
| 8 | g.115414371C>G | CA372062540 | TRPS1 | c.3537G>C (p.Leu1179Phe) c.3498G>C (p.Leu1166Phe) c.2760G>C (p.Leu920Phe) c.3510G>C (p.Leu1170Phe) c.3516G>C (p.Leu1172Phe) | |
| 8 | g.115414371C>T | CA462658376 | TRPS1 | c.3537G>A (p.Leu1179=) c.3498G>A (p.Leu1166=) c.2760G>A (p.Leu920=) c.3510G>A (p.Leu1170=) c.3516G>A (p.Leu1172=) | |
| 8 | g.115414372A>C | CA372062541 | TRPS1 | c.3536T>G (p.Leu1179Trp) c.3497T>G (p.Leu1166Trp) c.2759T>G (p.Leu920Trp) c.3509T>G (p.Leu1170Trp) c.3515T>G (p.Leu1172Trp) | |
| 8 | g.115414372A>G | CA372062542 | TRPS1 | c.3536T>C (p.Leu1179Ser) c.3497T>C (p.Leu1166Ser) c.2759T>C (p.Leu920Ser) c.3509T>C (p.Leu1170Ser) c.3515T>C (p.Leu1172Ser) | |
| 8 | g.115414372A>T | CA372062543 | TRPS1 | c.3536T>A (p.Leu1179Ter) c.3497T>A (p.Leu1166Ter) c.2759T>A (p.Leu920Ter) c.3509T>A (p.Leu1170Ter) c.3515T>A (p.Leu1172Ter) | |
| 8 | g.115414373A>C | CA372062544 | TRPS1 | c.3535T>G (p.Leu1179Val) c.3496T>G (p.Leu1166Val) c.2758T>G (p.Leu920Val) c.3508T>G (p.Leu1170Val) c.3514T>G (p.Leu1172Val) | |
| 8 | g.115414373A>G | CA462658377 | TRPS1 | c.3535T>C (p.Leu1179=) c.3496T>C (p.Leu1166=) c.2758T>C (p.Leu920=) c.3508T>C (p.Leu1170=) c.3514T>C (p.Leu1172=) | |
| 8 | g.115414373A>T | CA372062545 | TRPS1 | c.3535T>A (p.Leu1179Met) c.3496T>A (p.Leu1166Met) c.2758T>A (p.Leu920Met) c.3508T>A (p.Leu1170Met) c.3514T>A (p.Leu1172Met) | |
| 8 | g.115414374A>C | CA372062546 | TRPS1 | c.3534T>G (p.Asp1178Glu) c.3495T>G (p.Asp1165Glu) c.2757T>G (p.Asp919Glu) c.3507T>G (p.Asp1169Glu) c.3513T>G (p.Asp1171Glu) | |
| 8 | g.115414374A>G | CA462658379 | TRPS1 | c.3534T>C (p.Asp1178=) c.3495T>C (p.Asp1165=) c.2757T>C (p.Asp919=) c.3507T>C (p.Asp1169=) c.3513T>C (p.Asp1171=) | |
| 8 | g.115414374A>T | CA372062547 | TRPS1 | c.3534T>A (p.Asp1178Glu) c.3495T>A (p.Asp1165Glu) c.2757T>A (p.Asp919Glu) c.3507T>A (p.Asp1169Glu) c.3513T>A (p.Asp1171Glu) | |
| 8 | g.115414375T>A | CA372062548 | TRPS1 | c.3533A>T (p.Asp1178Val) c.3494A>T (p.Asp1165Val) c.2756A>T (p.Asp919Val) c.3506A>T (p.Asp1169Val) c.3512A>T (p.Asp1171Val) | |
| 8 | g.115414375T>C | CA372062549 | TRPS1 | c.3533A>G (p.Asp1178Gly) c.3494A>G (p.Asp1165Gly) c.2756A>G (p.Asp919Gly) c.3506A>G (p.Asp1169Gly) c.3512A>G (p.Asp1171Gly) | |
| 8 | g.115414375T>G | CA372062550 | TRPS1 | c.3533A>C (p.Asp1178Ala) c.3494A>C (p.Asp1165Ala) c.2756A>C (p.Asp919Ala) c.3506A>C (p.Asp1169Ala) c.3512A>C (p.Asp1171Ala) | |
| 8 | g.115414376C>A | CA372062553 | TRPS1 | c.3532G>T (p.Asp1178Tyr) c.3493G>T (p.Asp1165Tyr) c.2755G>T (p.Asp919Tyr) c.3505G>T (p.Asp1169Tyr) c.3511G>T (p.Asp1171Tyr) | |
| 8 | g.115414376C>G | CA372062552 | TRPS1 | c.3532G>C (p.Asp1178His) c.3493G>C (p.Asp1165His) c.2755G>C (p.Asp919His) c.3505G>C (p.Asp1169His) c.3511G>C (p.Asp1171His) | COSMIC COSMIC |
| 8 | g.115414376C>T | CA372062551 | TRPS1 | c.3532G>A (p.Asp1178Asn) c.3493G>A (p.Asp1165Asn) c.2755G>A (p.Asp919Asn) c.3505G>A (p.Asp1169Asn) c.3511G>A (p.Asp1171Asn) | |
| 8 | g.115414377T>A | CA462658381 | TRPS1 | c.3531A>T (p.Leu1177=) c.3492A>T (p.Leu1164=) c.2754A>T (p.Leu918=) c.3504A>T (p.Leu1168=) c.3510A>T (p.Leu1170=) | |
| 8 | g.115414377T>C | CA462658382 | TRPS1 | c.3531A>G (p.Leu1177=) c.3492A>G (p.Leu1164=) c.2754A>G (p.Leu918=) c.3504A>G (p.Leu1168=) c.3510A>G (p.Leu1170=) | |
| 8 | g.115414377T>G | CA462658383 | TRPS1 | c.3531A>C (p.Leu1177=) c.3492A>C (p.Leu1164=) c.2754A>C (p.Leu918=) c.3504A>C (p.Leu1168=) c.3510A>C (p.Leu1170=) | |
| 8 | g.115414378A>C | CA372062554 | TRPS1 | c.3530T>G (p.Leu1177Arg) c.3491T>G (p.Leu1164Arg) c.2753T>G (p.Leu918Arg) c.3503T>G (p.Leu1168Arg) c.3509T>G (p.Leu1170Arg) | |
| 8 | g.115414378A>G | CA372062556 | TRPS1 | c.3530T>C (p.Leu1177Pro) c.3491T>C (p.Leu1164Pro) c.2753T>C (p.Leu918Pro) c.3503T>C (p.Leu1168Pro) c.3509T>C (p.Leu1170Pro) | |
| 8 | g.115414378A>T | CA372062555 | TRPS1 | c.3530T>A (p.Leu1177Gln) c.3491T>A (p.Leu1164Gln) c.2753T>A (p.Leu918Gln) c.3503T>A (p.Leu1168Gln) c.3509T>A (p.Leu1170Gln) | |
| 8 | g.115414379G>A | CA462658385 | TRPS1 | c.3529C>T (p.Leu1177=) c.3490C>T (p.Leu1164=) c.2752C>T (p.Leu918=) c.3502C>T (p.Leu1168=) c.3508C>T (p.Leu1170=) | |
| 8 | g.115414379G>C | CA372062557 | TRPS1 | c.3529C>G (p.Leu1177Val) c.3490C>G (p.Leu1164Val) c.2752C>G (p.Leu918Val) c.3502C>G (p.Leu1168Val) c.3508C>G (p.Leu1170Val) | COSMIC COSMIC |
| 8 | g.115414379G>T | CA372062558 | TRPS1 | c.3529C>A (p.Leu1177Ile) c.3490C>A (p.Leu1164Ile) c.2752C>A (p.Leu918Ile) c.3502C>A (p.Leu1168Ile) c.3508C>A (p.Leu1170Ile) | |
| 8 | g.115414380A= | CA1812853763 | TRPS1 | c.3528T= (p.Pro1176=) c.3489T= (p.Pro1163=) c.2751T= (p.Pro917=) c.3501T= (p.Pro1167=) c.3507T= (p.Pro1169=) | |
| 8 | g.115414380A>C | CA462658386 | TRPS1 | c.3528T>G (p.Pro1176=) c.3489T>G (p.Pro1163=) c.2751T>G (p.Pro917=) c.3501T>G (p.Pro1167=) c.3507T>G (p.Pro1169=) | |
| 8 | g.115414380A>G | CA462658387 | TRPS1 | c.3528T>C (p.Pro1176=) c.3489T>C (p.Pro1163=) c.2751T>C (p.Pro917=) c.3501T>C (p.Pro1167=) c.3507T>C (p.Pro1169=) | |
| 8 | g.115414380A>T | CA462658388 | TRPS1 | c.3528T>A (p.Pro1176=) c.3489T>A (p.Pro1163=) c.2751T>A (p.Pro917=) c.3501T>A (p.Pro1167=) c.3507T>A (p.Pro1169=) | gnomAD v4 |
| 8 | g.115414381G>A | CA372062559 | TRPS1 | c.3527C>T (p.Pro1176Leu) c.3488C>T (p.Pro1163Leu) c.2750C>T (p.Pro917Leu) c.3500C>T (p.Pro1167Leu) c.3506C>T (p.Pro1169Leu) | gnomAD v4 |
| 8 | g.115414381G>C | CA372062560 | TRPS1 | c.3527C>G (p.Pro1176Arg) c.3488C>G (p.Pro1163Arg) c.2750C>G (p.Pro917Arg) c.3500C>G (p.Pro1167Arg) c.3506C>G (p.Pro1169Arg) | |
| 8 | g.115414381G>T | CA372062561 | TRPS1 | c.3527C>A (p.Pro1176His) c.3488C>A (p.Pro1163His) c.2750C>A (p.Pro917His) c.3500C>A (p.Pro1167His) c.3506C>A (p.Pro1169His) | |
| 8 | g.115414382dup | CA1139660735 | TRPS1 | c.3527dup (p.Leu1177SerfsTer?) c.3488dup (p.Leu1164SerfsTer?) c.2750dup (p.Leu918SerfsTer?) c.3500dup (p.Leu1168SerfsTer?) c.3506dup (p.Leu1170SerfsTer?) | ClinVar dbSNP |
| 8 | g.115414382G>A | CA372062562 | TRPS1 | c.3526C>T (p.Pro1176Ser) c.3487C>T (p.Pro1163Ser) c.2749C>T (p.Pro917Ser) c.3499C>T (p.Pro1167Ser) c.3505C>T (p.Pro1169Ser) | |
| 8 | g.115414382G>C | CA372062563 | TRPS1 | c.3526C>G (p.Pro1176Ala) c.3487C>G (p.Pro1163Ala) c.2749C>G (p.Pro917Ala) c.3499C>G (p.Pro1167Ala) c.3505C>G (p.Pro1169Ala) | |
| 8 | g.115414382G>T | CA372062564 | TRPS1 | c.3526C>A (p.Pro1176Thr) c.3487C>A (p.Pro1163Thr) c.2749C>A (p.Pro917Thr) c.3499C>A (p.Pro1167Thr) c.3505C>A (p.Pro1169Thr) | |
| 8 | g.115414383A>C | CA372062565 | TRPS1 | c.3525T>G (p.Ile1175Met) c.3486T>G (p.Ile1162Met) c.2748T>G (p.Ile916Met) c.3498T>G (p.Ile1166Met) c.3504T>G (p.Ile1168Met) | |
| 8 | g.115414383A>G | CA462658391 | TRPS1 | c.3525T>C (p.Ile1175=) c.3486T>C (p.Ile1162=) c.2748T>C (p.Ile916=) c.3498T>C (p.Ile1166=) c.3504T>C (p.Ile1168=) | |
| 8 | g.115414383A>T | CA462658392 | TRPS1 | c.3525T>A (p.Ile1175=) c.3486T>A (p.Ile1162=) c.2748T>A (p.Ile916=) c.3498T>A (p.Ile1166=) c.3504T>A (p.Ile1168=) | |
| 8 | g.115414384A>C | CA372062566 | TRPS1 | c.3524T>G (p.Ile1175Ser) c.3485T>G (p.Ile1162Ser) c.2747T>G (p.Ile916Ser) c.3497T>G (p.Ile1166Ser) c.3503T>G (p.Ile1168Ser) | |
| 8 | g.115414384A>G | CA372062567 | TRPS1 | c.3524T>C (p.Ile1175Thr) c.3485T>C (p.Ile1162Thr) c.2747T>C (p.Ile916Thr) c.3497T>C (p.Ile1166Thr) c.3503T>C (p.Ile1168Thr) | |
| 8 | g.115414384A>T | CA372062568 | TRPS1 | c.3524T>A (p.Ile1175Asn) c.3485T>A (p.Ile1162Asn) c.2747T>A (p.Ile916Asn) c.3497T>A (p.Ile1166Asn) c.3503T>A (p.Ile1168Asn) | |
| 8 | g.115414385T>A | CA372062569 | TRPS1 | c.3523A>T (p.Ile1175Phe) c.3484A>T (p.Ile1162Phe) c.2746A>T (p.Ile916Phe) c.3496A>T (p.Ile1166Phe) c.3502A>T (p.Ile1168Phe) | |
| 8 | g.115414385T>C | CA4851475 | TRPS1 | c.3523A>G (p.Ile1175Val) c.3484A>G (p.Ile1162Val) c.2746A>G (p.Ile916Val) c.3496A>G (p.Ile1166Val) c.3502A>G (p.Ile1168Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414385T>G | CA372062570 | TRPS1 | c.3523A>C (p.Ile1175Leu) c.3484A>C (p.Ile1162Leu) c.2746A>C (p.Ile916Leu) c.3496A>C (p.Ile1166Leu) c.3502A>C (p.Ile1168Leu) | |
| 8 | g.115414385T= | CA1812853765 | TRPS1 | c.3523A= (p.Ile1175=) c.3484A= (p.Ile1162=) c.2746A= (p.Ile916=) c.3496A= (p.Ile1166=) c.3502A= (p.Ile1168=) |