| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115413923T>A | CA2688302468 | TRPS1 | c.*100A>T (n.*100A>T) | gnomAD v4 |
| 8 | g.115413924A= | CA1812853422 | TRPS1 | c.*99T= (n.*99T=) | |
| 8 | g.115413924A>G | CA1812853423 | TRPS1 | c.*99T>C (n.*99T>C) | dbSNP gnomAD v4 |
| 8 | g.115413926G>T | CA2579259375 | TRPS1 | c.*97C>A (n.*97C>A) | gnomAD v4 |
| 8 | g.115413928A= | CA1812853424 | TRPS1 | c.*95T= (n.*95T=) | |
| 8 | g.115413928A>G | CA1812853425 | TRPS1 | c.*95T>C (n.*95T>C) | dbSNP gnomAD v4 |
| 8 | g.115413929G>A | CA2688302469 | TRPS1 | c.*94C>T (n.*94C>T) | gnomAD v4 |
| 8 | g.115413929G>T | CA2579259376 | TRPS1 | c.*94C>A (n.*94C>A) | gnomAD v4 |
| 8 | g.115413930T>C | CA846012920 | TRPS1 | c.*93A>G (n.*93A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413930T>G | CA584657553 | TRPS1 | c.*93A>C (n.*93A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413930T= | CA1812853427 | TRPS1 | c.*93A= (n.*93A=) | |
| 8 | g.115413931A= | CA1812853428 | TRPS1 | c.*92T= (n.*92T=) | |
| 8 | g.115413931A>G | CA846012922 | TRPS1 | c.*92T>C (n.*92T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413932T>A | CA2688302470 | TRPS1 | c.*91A>T (n.*91A>T) | gnomAD v4 |
| 8 | g.115413932T>C | CA1118165707 | TRPS1 | c.*91A>G (n.*91A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413932T= | CA1812853431 | TRPS1 | c.*91A= (n.*91A=) | |
| 8 | g.115413938dup | CA846012925 | TRPS1 | c.*91dup (n.*91dup) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413937_115413938dup | CA2579259377 | TRPS1 | c.*90_*91dup (n.*90_*91dup) | |
| 8 | g.115413938del | CA2603770460 | TRPS1 | c.*91del (n.*91del) | gnomAD v3 gnomAD v4 |
| 8 | g.115413934T>A | CA2688302471 | TRPS1 | c.*89A>T (n.*89A>T) | gnomAD v4 |
| 8 | g.115413934T>G | CA184469160 | TRPS1 | c.*89A>C (n.*89A>C) | dbSNP gnomAD v3 |
| 8 | g.115413934T= | CA1812853433 | TRPS1 | c.*89A= (n.*89A=) | |
| 8 | g.115413935T>C | CA2688302472 | TRPS1 | c.*88A>G (n.*88A>G) | gnomAD v4 |
| 8 | g.115413937T>G | CA2579259378 | TRPS1 | c.*86A>C (n.*86A>C) | gnomAD v4 |
| 8 | g.115413938T>A | CA184469163 | TRPS1 | c.*85A>T (n.*85A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413938T>C | CA1118165708 | TRPS1 | c.*85A>G (n.*85A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413938T= | CA1812853436 | TRPS1 | c.*85A= (n.*85A=) | |
| 8 | g.115413939A= | CA1812853438 | TRPS1 | c.*84T= (n.*84T=) | |
| 8 | g.115413939A>C | CA2688302473 | TRPS1 | c.*84T>G (n.*84T>G) | gnomAD v4 |
| 8 | g.115413939A>T | CA184469178 | TRPS1 | c.*84T>A (n.*84T>A) | dbSNP gnomAD v4 |
| 8 | g.115413940del | CA2579259379 | TRPS1 | c.*84del (n.*84del) | gnomAD v4 |
| 8 | g.115413940A>T | CA2688302474 | TRPS1 | c.*83T>A (n.*83T>A) | gnomAD v4 |
| 8 | g.115413941T>C | CA2688302475 | TRPS1 | c.*82A>G (n.*82A>G) | gnomAD v4 |
| 8 | g.115413942A>T | CA2688302476 | TRPS1 | c.*81T>A (n.*81T>A) | gnomAD v4 |
| 8 | g.115413943G>T | CA2579259380 | TRPS1 | c.*80C>A (n.*80C>A) | gnomAD v4 |
| 8 | g.115413944G>T | CA2688302477 | TRPS1 | c.*79C>A (n.*79C>A) | gnomAD v4 |
| 8 | g.115413945T>C | CA2688302478 | TRPS1 | c.*78A>G (n.*78A>G) | gnomAD v4 |
| 8 | g.115413946C>A | CA2688302479 | TRPS1 | c.*77G>T (n.*77G>T) | gnomAD v4 |
| 8 | g.115413946C= | CA1812853440 | TRPS1 | c.*77G= (n.*77G=) | |
| 8 | g.115413946C>T | CA846012939 | TRPS1 | c.*77G>A (n.*77G>A) | dbSNP gnomAD v4 |
| 8 | g.115413950A= | CA1812853443 | TRPS1 | c.*73T= (n.*73T=) | |
| 8 | g.115413950A>C | CA2580835362 | TRPS1 | c.*73T>G (n.*73T>G) | |
| 8 | g.115413950A>G | CA10624605 | TRPS1 | c.*73T>C (n.*73T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413950A>T | CA2580835361 | TRPS1 | c.*73T>A (n.*73T>A) | |
| 8 | g.115413951T>A | CA2569219534 | TRPS1 | c.*72A>T (n.*72A>T) | |
| 8 | g.115413951T>C | CA2579259381 | TRPS1 | c.*72A>G (n.*72A>G) | |
| 8 | g.115413951T>G | CA2688302480 | TRPS1 | c.*72A>C (n.*72A>C) | gnomAD v4 |
| 8 | g.115413951_115413952insC | CA652947522 | TRPS1 | c.*71_*72insG (n.*71_*72insG) | COSMIC |
| 8 | g.115413952A= | CA1812853447 | TRPS1 | c.*71T= (n.*71T=) | |
| 8 | g.115413952A>G | CA1118165713 | TRPS1 | c.*71T>C (n.*71T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413953del | CA2579259382 | TRPS1 | c.*71del (n.*71del) | gnomAD v4 |
| 8 | g.115413960A>T | CA2688302481 | TRPS1 | c.*63T>A (n.*63T>A) | gnomAD v4 |
| 8 | g.115413961C>A | CA2688302482 | TRPS1 | c.*62G>T (n.*62G>T) | gnomAD v4 |
| 8 | g.115413961C= | CA1812853449 | TRPS1 | c.*62G= (n.*62G=) | |
| 8 | g.115413961C>T | CA584815762 | TRPS1 | c.*62G>A (n.*62G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413964G>C | CA584815763 | TRPS1 | c.*59C>G (n.*59C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413964G= | CA1812853451 | TRPS1 | c.*59C= (n.*59C=) | |
| 8 | g.115413964G>T | CA652947524 | TRPS1 | c.*59C>A (n.*59C>A) | gnomAD v4 COSMIC |
| 8 | g.115413965C>A | CA2688302483 | TRPS1 | c.*58G>T (n.*58G>T) | gnomAD v4 |
| 8 | g.115413965C>G | CA2688302484 | TRPS1 | c.*58G>C (n.*58G>C) | gnomAD v4 |
| 8 | g.115413965C>T | CA2718161044 | TRPS1 | c.*58G>A (n.*58G>A) | dbSNP |
| 8 | g.115413968T>C | CA652947526 | TRPS1 | c.*55A>G (n.*55A>G) | dbSNP COSMIC COSMIC |
| 8 | g.115413968T= | CA1812853452 | TRPS1 | c.*55A= (n.*55A=) | |
| 8 | g.115413970G>C | CA2688302485 | TRPS1 | c.*53C>G (n.*53C>G) | gnomAD v4 |
| 8 | g.115413970G>T | CA2688302486 | TRPS1 | c.*53C>A (n.*53C>A) | gnomAD v4 |
| 8 | g.115413972A>C | CA2688302487 | TRPS1 | c.*51T>G (n.*51T>G) | gnomAD v4 |
| 8 | g.115413973T>C | CA4851427 | TRPS1 | c.*50A>G (n.*50A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413973T= | CA1812853455 | TRPS1 | c.*50A= (n.*50A=) | |
| 8 | g.115413974T>A | CA1118165718 | TRPS1 | c.*49A>T (n.*49A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413974T= | CA1812853458 | TRPS1 | c.*49A= (n.*49A=) | |
| 8 | g.115413975C= | CA1812853461 | TRPS1 | c.*48G= (n.*48G=) | |
| 8 | g.115413975C>T | CA584815764 | TRPS1 | c.*48G>A (n.*48G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413976C>A | CA1118165723 | TRPS1 | c.*47G>T (n.*47G>T) | gnomAD v3 gnomAD v4 |
| 8 | g.115413976C= | CA1812853463 | TRPS1 | c.*47G= (n.*47G=) | |
| 8 | g.115413976C>T | CA4851428 | TRPS1 | c.*47G>A (n.*47G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115413978A>T | CA2523962615 | TRPS1 | c.*45T>A (n.*45T>A) | |
| 8 | g.115413979T>G | CA2718161047 | TRPS1 | c.*44A>C (n.*44A>C) | dbSNP |
| 8 | g.115413980C= | CA1812853465 | TRPS1 | c.*43G= (n.*43G=) | |
| 8 | g.115413980C>G | CA4851429 | TRPS1 | c.*43G>C (n.*43G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413981_115413991del | CA2517466820 | TRPS1 | c.*32_*42del (n.*32_*42del) | |
| 8 | g.115413982A>G | CA2688302488 | TRPS1 | c.*41T>C (n.*41T>C) | gnomAD v4 |
| 8 | g.115413983G>A | CA1812853468 | TRPS1 | c.*40C>T (n.*40C>T) | dbSNP |
| 8 | g.115413983G>C | CA2688302489 | TRPS1 | c.*40C>G (n.*40C>G) | gnomAD v4 |
| 8 | g.115413983G= | CA1812853467 | TRPS1 | c.*40C= (n.*40C=) | |
| 8 | g.115413984A>G | CA2579259383 | TRPS1 | c.*39T>C (n.*39T>C) | |
| 8 | g.115413986A= | CA1812853469 | TRPS1 | c.*37T= (n.*37T=) | |
| 8 | g.115413986_115413987insG | CA652947529 | TRPS1 | c.*36_*37insC (n.*36_*37insC) | COSMIC |
| 8 | g.115413986_115413987insGC | CA846012961 | TRPS1 | c.*36_*37insGC (n.*36_*37insGC) | dbSNP |
| 8 | g.115413988C>A | CA1812853474 | TRPS1 | c.*35G>T (n.*35G>T) | dbSNP |
| 8 | g.115413988C= | CA1812853473 | TRPS1 | c.*35G= (n.*35G=) | |
| 8 | g.115413988_115413996delinsCCTATTTCT | CA1812853471 | TRPS1 | c.*27_*35delinsAGAAATAGG (n.*27_*35delinsAGAAATAGG) | |
| 8 | g.115413989C= | CA1812853476 | TRPS1 | c.*34G= (n.*34G=) | |
| 8 | g.115413989C>T | CA184469186 | TRPS1 | c.*34G>A (n.*34G>A) | dbSNP |
| 8 | g.115413989_115413996del | CA846012965 | TRPS1 | c.*27_*34del (n.*27_*34del) | dbSNP |
| 8 | g.115413990T>C | CA4851430 | TRPS1 | c.*33A>G (n.*33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115413990T= | CA1812853478 | TRPS1 | c.*33A= (n.*33A=) | |
| 8 | g.115413991A>G | CA2688302490 | TRPS1 | c.*32T>C (n.*32T>C) | gnomAD v4 |
| 8 | g.115413994_115413995insTG | CA2553698152 | TRPS1 | c.*28_*29insCA (n.*28_*29insCA) | |
| 8 | g.115413995C>A | CA2718161061 | TRPS1 | c.*28G>T (n.*28G>T) | dbSNP |
| 8 | g.115413995C>G | CA2688302491 | TRPS1 | c.*28G>C (n.*28G>C) | gnomAD v4 |
| 8 | g.115413995C>T | CA2562036618 | TRPS1 | c.*28G>A (n.*28G>A) | |
| 8 | g.115413997A>G | CA2579259384 | TRPS1 | c.*26T>C (n.*26T>C) | |
| 8 | g.115413998T>A | CA184469188 | TRPS1 | c.*25A>T (n.*25A>T) | dbSNP |
| 8 | g.115413998T>C | CA2688302492 | TRPS1 | c.*25A>G (n.*25A>G) | gnomAD v4 |
| 8 | g.115413998T= | CA1812853479 | TRPS1 | c.*25A= (n.*25A=) | |
| 8 | g.115414000T>C | CA1812853482 | TRPS1 | c.*23A>G (n.*23A>G) | dbSNP |
| 8 | g.115414000T= | CA1812853481 | TRPS1 | c.*23A= (n.*23A=) | |
| 8 | g.115414005G>A | CA2781846460 | TRPS1 | c.*18C>T (n.*18C>T) | |
| 8 | g.115414013_115414019del | CA2688302493 | TRPS1 | c.*12_*18del (n.*12_*18del) | gnomAD v4 |
| 8 | g.115414007G>C | CA4851431 | TRPS1 | c.*16C>G (n.*16C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414007G= | CA1812853484 | TRPS1 | c.*16C= (n.*16C=) | |
| 8 | g.115414009T>G | CA2532959776 | TRPS1 | c.*14A>C (n.*14A>C) | gnomAD v4 |
| 8 | g.115414009dup | CA652947532 | TRPS1 | c.*14dup (n.*14dup) | COSMIC |
| 8 | g.115414012G>A | CA2579259385 | TRPS1 | c.*11C>T (n.*11C>T) | gnomAD v4 |
| 8 | g.115414015C= | CA1812853485 | TRPS1 | c.*8G= (n.*8G=) | |
| 8 | g.115414015C>T | CA4851432 | TRPS1 | c.*8G>A (n.*8G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.115414017A= | CA1812853487 | TRPS1 | c.*6T= (n.*6T=) | |
| 8 | g.115414017A>G | CA1812853489 | TRPS1 | c.*6T>C (n.*6T>C) | dbSNP |
| 8 | g.115414018A= | CA1812853493 | TRPS1 | c.*5T= (n.*5T=) | |
| 8 | g.115414018A>C | CA2688302495 | TRPS1 | c.*5T>G (n.*5T>G) | gnomAD v4 |
| 8 | g.115414018A>T | CA4851433 | TRPS1 | c.*5T>A (n.*5T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414025_115414038del | CA2688302494 | TRPS1 | c.3877_*5del (n.[c.3877_*5del;Lys1293Ter]) c.3838_*5del (n.[c.3838_*5del;Lys1280Ter]) c.3100_*5del (n.[c.3100_*5del;Lys1034Ter]) c.3850_*5del (n.[c.3850_*5del;Lys1284Ter]) c.3856_*5del (n.[c.3856_*5del;Lys1286Ter]) | gnomAD v4 |
| 8 | g.115414019G>A | CA2688302496 | TRPS1 | c.*4C>T (n.*4C>T) | gnomAD v4 |
| 8 | g.115414020G>A | CA2688302497 | TRPS1 | c.*3C>T (n.*3C>T) | gnomAD v4 |
| 8 | g.115414021T>G | CA2688302498 | TRPS1 | c.*2A>C (n.*2A>C) | gnomAD v4 |
| 8 | g.115414024del | CA2579259386 | TRPS1 | c.*2del (n.*2del) | |
| 8 | g.115414023T>A | CA372061751 | TRPS1 | c.3885A>T (p.Ter1295Tyr) c.3846A>T (p.Ter1282Tyr) c.3108A>T (p.Ter1036Tyr) c.3858A>T (p.Ter1286Tyr) c.3864A>T (p.Ter1288Tyr) | |
| 8 | g.115414023T>C | CA462657841 | TRPS1 | c.3885A>G (p.Ter1295=) c.3846A>G (p.Ter1282=) c.3108A>G (p.Ter1036=) c.3858A>G (p.Ter1286=) c.3864A>G (p.Ter1288=) | |
| 8 | g.115414023T>G | CA372061752 | TRPS1 | c.3885A>C (p.Ter1295Tyr) c.3846A>C (p.Ter1282Tyr) c.3108A>C (p.Ter1036Tyr) c.3858A>C (p.Ter1286Tyr) c.3864A>C (p.Ter1288Tyr) | |
| 8 | g.115414023T= | CA1812853498 | TRPS1 | c.3885A= (p.Ter1295=) c.3846A= (p.Ter1282=) c.3108A= (p.Ter1036=) c.3858A= (p.Ter1286=) c.3864A= (p.Ter1288=) |