| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115413780_115413784delinsCTTAA | CA1812853322 | TRPS1 | c.*239_*243delinsTTAAG (n.*239_*243delinsTTAAG) | |
| 8 | g.115413781_115413784del | CA918347283 | TRPS1 | c.*239_*242del (n.*239_*242del) | dbSNP |
| 8 | g.115413784A= | CA1812853324 | TRPS1 | c.*239T= (n.*239T=) | |
| 8 | g.115413785C>A | CA2688302380 | TRPS1 | c.*238G>T (n.*238G>T) | gnomAD v4 |
| 8 | g.115413785C>T | CA2688302381 | TRPS1 | c.*238G>A (n.*238G>A) | gnomAD v4 |
| 8 | g.115413785dup | CA184469061 | TRPS1 | c.*238dup (n.*238dup) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413787G>A | CA2688302383 | TRPS1 | c.*236C>T (n.*236C>T) | gnomAD v4 |
| 8 | g.115413787G>C | CA1812853327 | TRPS1 | c.*236C>G (n.*236C>G) | dbSNP gnomAD v4 |
| 8 | g.115413787G= | CA1812853326 | TRPS1 | c.*236C= (n.*236C=) | |
| 8 | g.115413787G>T | CA2688302382 | TRPS1 | c.*236C>A (n.*236C>A) | gnomAD v4 |
| 8 | g.115413788G>A | CA2688302385 | TRPS1 | c.*235C>T (n.*235C>T) | gnomAD v4 |
| 8 | g.115413788G>T | CA2688302384 | TRPS1 | c.*235C>A (n.*235C>A) | gnomAD v4 |
| 8 | g.115413791T>A | CA2688302386 | TRPS1 | c.*232A>T (n.*232A>T) | gnomAD v4 |
| 8 | g.115413791T>C | CA2688302387 | TRPS1 | c.*232A>G (n.*232A>G) | gnomAD v4 |
| 8 | g.115413792T>A | CA2688302388 | TRPS1 | c.*231A>T (n.*231A>T) | gnomAD v4 |
| 8 | g.115413797del | CA2688302389 | TRPS1 | c.*230del (n.*230del) | gnomAD v4 |
| 8 | g.115413794_115413802del | CA2688302390 | TRPS1 | c.*221_*229del (n.*221_*229del) | gnomAD v4 |
| 8 | g.115413798G>A | CA2688302391 | TRPS1 | c.*225C>T (n.*225C>T) | gnomAD v4 |
| 8 | g.115413798G>C | CA1812853330 | TRPS1 | c.*225C>G (n.*225C>G) | dbSNP |
| 8 | g.115413798G= | CA1812853328 | TRPS1 | c.*225C= (n.*225C=) | |
| 8 | g.115413799T>C | CA2688302392 | TRPS1 | c.*224A>G (n.*224A>G) | gnomAD v4 |
| 8 | g.115413800G>A | CA2688302393 | TRPS1 | c.*223C>T (n.*223C>T) | gnomAD v4 |
| 8 | g.115413800G>T | CA2688302394 | TRPS1 | c.*223C>A (n.*223C>A) | gnomAD v4 |
| 8 | g.115413801A= | CA1812853331 | TRPS1 | c.*222T= (n.*222T=) | |
| 8 | g.115413801A>T | CA1812853332 | TRPS1 | c.*222T>A (n.*222T>A) | dbSNP |
| 8 | g.115413802T>C | CA2568201895 | TRPS1 | c.*221A>G (n.*221A>G) | |
| 8 | g.115413802T>G | CA2688302395 | TRPS1 | c.*221A>C (n.*221A>C) | gnomAD v4 |
| 8 | g.115413803T>C | CA584657549 | TRPS1 | c.*220A>G (n.*220A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413803T= | CA1812853333 | TRPS1 | c.*220A= (n.*220A=) | |
| 8 | g.115413804G>A | CA1812853337 | TRPS1 | c.*219C>T (n.*219C>T) | dbSNP gnomAD v4 |
| 8 | g.115413804G= | CA1812853335 | TRPS1 | c.*219C= (n.*219C=) | |
| 8 | g.115413804G>T | CA2688302396 | TRPS1 | c.*219C>A (n.*219C>A) | gnomAD v4 |
| 8 | g.115413806T>C | CA2539337153 | TRPS1 | c.*217A>G (n.*217A>G) | |
| 8 | g.115413807T>C | CA584657550 | TRPS1 | c.*216A>G (n.*216A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413807T= | CA1812853340 | TRPS1 | c.*216A= (n.*216A=) | |
| 8 | g.115413808A= | CA1812853342 | TRPS1 | c.*215T= (n.*215T=) | |
| 8 | g.115413808A>T | CA1118165658 | TRPS1 | c.*215T>A (n.*215T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413809C>A | CA184469062 | TRPS1 | c.*214G>T (n.*214G>T) | dbSNP gnomAD v4 |
| 8 | g.115413809C= | CA1812853343 | TRPS1 | c.*214G= (n.*214G=) | |
| 8 | g.115413809C>T | CA846012883 | TRPS1 | c.*214G>A (n.*214G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413810C>A | CA2688302397 | TRPS1 | c.*213G>T (n.*213G>T) | gnomAD v4 |
| 8 | g.115413810C>T | CA2688302398 | TRPS1 | c.*213G>A (n.*213G>A) | gnomAD v4 |
| 8 | g.115413813C>A | CA2688302399 | TRPS1 | c.*210G>T (n.*210G>T) | gnomAD v4 |
| 8 | g.115413813C= | CA1812853345 | TRPS1 | c.*210G= (n.*210G=) | |
| 8 | g.115413813C>G | CA184469063 | TRPS1 | c.*210G>C (n.*210G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413813C>T | CA2781846451 | TRPS1 | c.*210G>A (n.*210G>A) | |
| 8 | g.115413814T>C | CA1812853347 | TRPS1 | c.*209A>G (n.*209A>G) | dbSNP |
| 8 | g.115413814T= | CA1812853346 | TRPS1 | c.*209A= (n.*209A=) | |
| 8 | g.115413815T>G | CA2688302400 | TRPS1 | c.*208A>C (n.*208A>C) | gnomAD v4 |
| 8 | g.115413816C>A | CA2688302401 | TRPS1 | c.*207G>T (n.*207G>T) | gnomAD v4 |
| 8 | g.115413816C>T | CA2688302402 | TRPS1 | c.*207G>A (n.*207G>A) | gnomAD v4 |
| 8 | g.115413817C>A | CA2688302403 | TRPS1 | c.*206G>T (n.*206G>T) | gnomAD v4 |
| 8 | g.115413820T>G | CA2688302404 | TRPS1 | c.*203A>C (n.*203A>C) | gnomAD v4 |
| 8 | g.115413821C>A | CA2513830893 | TRPS1 | c.*202G>T (n.*202G>T) | gnomAD v4 |
| 8 | g.115413823T>C | CA1812853349 | TRPS1 | c.*200A>G (n.*200A>G) | dbSNP gnomAD v4 |
| 8 | g.115413823T>G | CA2688302405 | TRPS1 | c.*200A>C (n.*200A>C) | gnomAD v4 |
| 8 | g.115413823T= | CA1812853348 | TRPS1 | c.*200A= (n.*200A=) | |
| 8 | g.115413825C>A | CA2688302406 | TRPS1 | c.*198G>T (n.*198G>T) | gnomAD v4 |
| 8 | g.115413825C= | CA1812853350 | TRPS1 | c.*198G= (n.*198G=) | |
| 8 | g.115413825C>T | CA1812853351 | TRPS1 | c.*198G>A (n.*198G>A) | dbSNP |
| 8 | g.115413827C>A | CA2688302407 | TRPS1 | c.*196G>T (n.*196G>T) | gnomAD v4 |
| 8 | g.115413827C= | CA1812853353 | TRPS1 | c.*196G= (n.*196G=) | |
| 8 | g.115413827C>T | CA184469064 | TRPS1 | c.*196G>A (n.*196G>A) | dbSNP |
| 8 | g.115413829T>A | CA2688302408 | TRPS1 | c.*194A>T (n.*194A>T) | gnomAD v4 |
| 8 | g.115413829T>C | CA184469067 | TRPS1 | c.*194A>G (n.*194A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413829T= | CA1812853354 | TRPS1 | c.*194A= (n.*194A=) | |
| 8 | g.115413830T>C | CA184469070 | TRPS1 | c.*193A>G (n.*193A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413830T= | CA1812853356 | TRPS1 | c.*193A= (n.*193A=) | |
| 8 | g.115413831G>T | CA2688302409 | TRPS1 | c.*192C>A (n.*192C>A) | gnomAD v4 |
| 8 | g.115413834C>A | CA846012886 | TRPS1 | c.*189G>T (n.*189G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413834C= | CA1812853357 | TRPS1 | c.*189G= (n.*189G=) | |
| 8 | g.115413834C>G | CA2688302410 | TRPS1 | c.*189G>C (n.*189G>C) | gnomAD v4 |
| 8 | g.115413834C>T | CA2688302411 | TRPS1 | c.*189G>A (n.*189G>A) | gnomAD v4 |
| 8 | g.115413836T>C | CA1812853360 | TRPS1 | c.*187A>G (n.*187A>G) | dbSNP gnomAD v4 |
| 8 | g.115413836T>G | CA1812853361 | TRPS1 | c.*187A>C (n.*187A>C) | dbSNP gnomAD v4 |
| 8 | g.115413836T= | CA1812853359 | TRPS1 | c.*187A= (n.*187A=) | |
| 8 | g.115413838T>G | CA2688302412 | TRPS1 | c.*185A>C (n.*185A>C) | gnomAD v4 |
| 8 | g.115413839A>T | CA2688302413 | TRPS1 | c.*184T>A (n.*184T>A) | gnomAD v4 |
| 8 | g.115413840T>C | CA2688302414 | TRPS1 | c.*183A>G (n.*183A>G) | gnomAD v4 |
| 8 | g.115413840T>G | CA846012891 | TRPS1 | c.*183A>C (n.*183A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413840T= | CA1812853363 | TRPS1 | c.*183A= (n.*183A=) | |
| 8 | g.115413841C>A | CA2688302415 | TRPS1 | c.*182G>T (n.*182G>T) | gnomAD v4 |
| 8 | g.115413841C= | CA1812853368 | TRPS1 | c.*182G= (n.*182G=) | |
| 8 | g.115413841C>T | CA1118165676 | TRPS1 | c.*182G>A (n.*182G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413843C>A | CA2688302416 | TRPS1 | c.*180G>T (n.*180G>T) | gnomAD v4 |
| 8 | g.115413845C>A | CA2688302417 | TRPS1 | c.*178G>T (n.*178G>T) | gnomAD v4 |
| 8 | g.115413845C= | CA1812853370 | TRPS1 | c.*178G= (n.*178G=) | |
| 8 | g.115413845C>T | CA184469082 | TRPS1 | c.*178G>A (n.*178G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413847T>G | CA2688302418 | TRPS1 | c.*176A>C (n.*176A>C) | gnomAD v4 |
| 8 | g.115413849T>C | CA2688302419 | TRPS1 | c.*174A>G (n.*174A>G) | gnomAD v4 |
| 8 | g.115413851A>T | CA2688302420 | TRPS1 | c.*172T>A (n.*172T>A) | gnomAD v4 |
| 8 | g.115413852A= | CA1812853372 | TRPS1 | c.*171T= (n.*171T=) | |
| 8 | g.115413852A>G | CA1118165682 | TRPS1 | c.*171T>C (n.*171T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413854C= | CA1812853373 | TRPS1 | c.*169G= (n.*169G=) | |
| 8 | g.115413854C>T | CA184469092 | TRPS1 | c.*169G>A (n.*169G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413856T>C | CA184469099 | TRPS1 | c.*167A>G (n.*167A>G) | dbSNP gnomAD v4 |
| 8 | g.115413856T>G | CA2688302421 | TRPS1 | c.*167A>C (n.*167A>C) | gnomAD v4 |
| 8 | g.115413856T= | CA1812853377 | TRPS1 | c.*167A= (n.*167A=) | |
| 8 | g.115413857G>T | CA2688302422 | TRPS1 | c.*166C>A (n.*166C>A) | gnomAD v4 |
| 8 | g.115413858G>A | CA2688302423 | TRPS1 | c.*165C>T (n.*165C>T) | gnomAD v4 |
| 8 | g.115413858G>T | CA2688302424 | TRPS1 | c.*165C>A (n.*165C>A) | gnomAD v4 |
| 8 | g.115413859T>C | CA2688302425 | TRPS1 | c.*164A>G (n.*164A>G) | gnomAD v4 |
| 8 | g.115413860A>G | CA2688302426 | TRPS1 | c.*163T>C (n.*163T>C) | gnomAD v4 |
| 8 | g.115413861A>C | CA2688302427 | TRPS1 | c.*162T>G (n.*162T>G) | gnomAD v4 |
| 8 | g.115413863C>A | CA2688302430 | TRPS1 | c.*160G>T (n.*160G>T) | gnomAD v4 |
| 8 | g.115413863C>T | CA2688302429 | TRPS1 | c.*160G>A (n.*160G>A) | gnomAD v4 |
| 8 | g.115413865_115413867del | CA2688302428 | TRPS1 | c.*158_*160del (n.*158_*160del) | gnomAD v4 |
| 8 | g.115413864T>A | CA184469110 | TRPS1 | c.*159A>T (n.*159A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413864T= | CA1812853379 | TRPS1 | c.*159A= (n.*159A=) | |
| 8 | g.115413865A= | CA1812853380 | TRPS1 | c.*158T= (n.*158T=) | |
| 8 | g.115413865A>C | CA2688302431 | TRPS1 | c.*158T>G (n.*158T>G) | gnomAD v4 |
| 8 | g.115413865A>G | CA1118165684 | TRPS1 | c.*158T>C (n.*158T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413865A>T | CA2688302432 | TRPS1 | c.*158T>A (n.*158T>A) | gnomAD v4 |
| 8 | g.115413866C= | CA1812853382 | TRPS1 | c.*157G= (n.*157G=) | |
| 8 | g.115413866C>T | CA184469114 | TRPS1 | c.*157G>A (n.*157G>A) | dbSNP gnomAD v4 |
| 8 | g.115413868C>A | CA2688302433 | TRPS1 | c.*155G>T (n.*155G>T) | gnomAD v4 |
| 8 | g.115413870T>A | CA2688302434 | TRPS1 | c.*153A>T (n.*153A>T) | gnomAD v4 |
| 8 | g.115413870T>C | CA2688302435 | TRPS1 | c.*153A>G (n.*153A>G) | gnomAD v4 |
| 8 | g.115413871C>A | CA2688302436 | TRPS1 | c.*152G>T (n.*152G>T) | gnomAD v4 |
| 8 | g.115413871C= | CA1812853385 | TRPS1 | c.*152G= (n.*152G=) | |
| 8 | g.115413871C>T | CA1118165689 | TRPS1 | c.*152G>A (n.*152G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413872A>G | CA2688302437 | TRPS1 | c.*151T>C (n.*151T>C) | gnomAD v4 |
| 8 | g.115413873A= | CA1812853386 | TRPS1 | c.*150T= (n.*150T=) | |
| 8 | g.115413873A>C | CA184469120 | TRPS1 | c.*150T>G (n.*150T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413873A>T | CA2688302439 | TRPS1 | c.*150T>A (n.*150T>A) | gnomAD v4 |
| 8 | g.115413879_115413882del | CA2688302438 | TRPS1 | c.*147_*150del (n.*147_*150del) | gnomAD v4 |
| 8 | g.115413875_115413876delinsAG | CA1812853388 | TRPS1 | c.*147_*148delinsCT (n.*147_*148delinsCT) | |
| 8 | g.115413876del | CA1812853389 | TRPS1 | c.*147del (n.*147del) | dbSNP |
| 8 | g.115413876G>T | CA2688302440 | TRPS1 | c.*147C>A (n.*147C>A) | dbSNP gnomAD v4 |
| 8 | g.115413878_115413879del | CA2688302441 | TRPS1 | c.*145_*146del (n.*145_*146del) | gnomAD v4 |
| 8 | g.115413880G>A | CA2688302443 | TRPS1 | c.*143C>T (n.*143C>T) | gnomAD v4 |
| 8 | g.115413880G>C | CA184469124 | TRPS1 | c.*143C>G (n.*143C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413880G= | CA1812853390 | TRPS1 | c.*143C= (n.*143C=) | |
| 8 | g.115413880G>T | CA2688302442 | TRPS1 | c.*143C>A (n.*143C>A) | gnomAD v4 |
| 8 | g.115413882A= | CA1812853392 | TRPS1 | c.*141T= (n.*141T=) | |
| 8 | g.115413882A>G | CA584657551 | TRPS1 | c.*141T>C (n.*141T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413883T>A | CA2688302444 | TRPS1 | c.*140A>T (n.*140A>T) | gnomAD v4 |
| 8 | g.115413883T>C | CA2688302445 | TRPS1 | c.*140A>G (n.*140A>G) | gnomAD v4 |