Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48688384A>C | CA412872332 | WAS | n.106A>C n.1098A>C c.862A>C (p.Lys288Gln) | |
X | g.48688384A>G | CA412872333 | WAS | n.106A>G n.1098A>G c.862A>G (p.Lys288Glu) | |
X | g.48688384A>T | CA412872334 | WAS | n.106A>T n.1098A>T c.862A>T (p.Lys288Ter) | |
X | g.48688385A>C | CA412872335 | WAS | n.107A>C n.1099A>C c.863A>C (p.Lys288Thr) | |
X | g.48688385A>G | CA412872337 | WAS | n.107A>G n.1099A>G c.863A>G (p.Lys288Arg) | |
X | g.48688385A>T | CA412872336 | WAS | n.107A>T n.1099A>T c.863A>T (p.Lys288Ile) | |
X | g.48688386A>C | CA412872338 | WAS | n.108A>C n.1100A>C c.864A>C (p.Lys288Asn) | |
X | g.48688386A>G | CA516023714 | WAS | n.108A>G n.1100A>G c.864A>G (p.Lys288=) | |
X | g.48688386A>T | CA412872339 | WAS | n.108A>T n.1100A>T c.864A>T (p.Lys288Asn) | |
X | g.48688387del | CA2695234055 | WAS | n.109del c.865del (p.Ile290SerfsTer18) | |
X | g.48688387C>A | CA412872340 | WAS | n.109C>A c.865C>A (p.Leu289Ile) | |
X | g.48688387C>G | CA412872341 | WAS | n.109C>G c.865C>G (p.Leu289Val) | |
X | g.48688387C>T | CA412872342 | WAS | n.109C>T c.865C>T (p.Leu289Phe) | gnomAD v4 |
X | g.48688388T>A | CA412872343 | WAS | n.110T>A c.866T>A (p.Leu289His) | |
X | g.48688388T>C | CA412872344 | WAS | n.110T>C c.866T>C (p.Leu289Pro) | |
X | g.48688388T>G | CA412872345 | WAS | n.110T>G c.866T>G (p.Leu289Arg) | |
X | g.48688389T>A | CA516023719 | WAS | n.111T>A c.867T>A (p.Leu289=) | |
X | g.48688389T>C | CA10403996 | WAS | n.111T>C c.867T>C (p.Leu289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688389T>G | CA516023721 | WAS | n.111T>G c.867T>G (p.Leu289=) | |
X | g.48688389T= | CA2428355548 | WAS | n.111T= c.867T= (p.Leu289=) | |
X | g.48688390A>C | CA412872346 | WAS | n.112A>C c.868A>C (p.Ile290Leu) | |
X | g.48688390A>G | CA412872347 | WAS | n.112A>G c.868A>G (p.Ile290Val) | |
X | g.48688390A>T | CA412872348 | WAS | n.112A>T c.868A>T (p.Ile290Phe) | |
X | g.48688391T>A | CA412872350 | WAS | n.113T>A c.869T>A (p.Ile290Asn) | |
X | g.48688391T>C | CA412872351 | WAS | n.113T>C c.869T>C (p.Ile290Thr) | ClinVar dbSNP |
X | g.48688391T>G | CA412872349 | WAS | n.113T>G c.869T>G (p.Ile290Ser) | |
X | g.48688391T= | CA2428355549 | WAS | n.113T= c.869T= (p.Ile290=) | |
X | g.48688392C>A | CA516023727 | WAS | n.114C>A c.870C>A (p.Ile290=) | |
X | g.48688392C>G | CA412872352 | WAS | n.114C>G c.870C>G (p.Ile290Met) | COSMIC |
X | g.48688392C>T | CA516023725 | WAS | n.114C>T c.870C>T (p.Ile290=) | gnomAD v3 gnomAD v4 |
X | g.48688393T>A | CA412872353 | WAS | n.115T>A c.871T>A (p.Tyr291Asn) | |
X | g.48688393T>C | CA412872354 | WAS | n.115T>C c.871T>C (p.Tyr291His) | |
X | g.48688393T>G | CA412872355 | WAS | n.115T>G c.871T>G (p.Tyr291Asp) | |
X | g.48688394A>C | CA412872358 | WAS | n.116A>C c.872A>C (p.Tyr291Ser) | |
X | g.48688394A>G | CA412872357 | WAS | n.116A>G c.872A>G (p.Tyr291Cys) | |
X | g.48688394A>T | CA412872356 | WAS | n.116A>T c.872A>T (p.Tyr291Phe) | |
X | g.48688394_48688396delinsCA | CA2695234056 | WAS | n.116_118delinsCA c.872_874delinsCA (p.Tyr291SerfsTer17) | |
X | g.48688395del | CA2695234057 | WAS | n.117del c.873del (p.Tyr291Ter) | |
X | g.48688395C>A | CA412872359 | WAS | n.117C>A c.873C>A (p.Tyr291Ter) | |
X | g.48688395C= | CA2428355550 | WAS | n.117C= c.873C= (p.Tyr291=) | |
X | g.48688395C>G | CA412872360 | WAS | n.117C>G c.873C>G (p.Tyr291Ter) | |
X | g.48688395C>T | CA10403997 | WAS | n.117C>T c.873C>T (p.Tyr291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688396G>A | CA412872361 | WAS | n.118G>A c.874G>A (p.Asp292Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.48688396G>C | CA412872362 | WAS | n.118G>C c.874G>C (p.Asp292His) | gnomAD v4 |
X | g.48688396G= | CA2428355551 | WAS | n.118G= c.874G= (p.Asp292=) | |
X | g.48688396G>T | CA412872363 | WAS | n.118G>T c.874G>T (p.Asp292Tyr) | |
X | g.48688397A>C | CA412872364 | WAS | n.119A>C c.875A>C (p.Asp292Ala) | |
X | g.48688397A>G | CA412872366 | WAS | n.119A>G c.875A>G (p.Asp292Gly) | |
X | g.48688397A>T | CA412872365 | WAS | n.119A>T c.875A>T (p.Asp292Val) | |
X | g.48688398C>A | CA412872367 | WAS | n.120C>A c.876C>A (p.Asp292Glu) | |
X | g.48688398C>G | CA412872368 | WAS | n.120C>G c.876C>G (p.Asp292Glu) | |
X | g.48688398C>T | CA516023736 | WAS | n.120C>T c.876C>T (p.Asp292=) | |
X | g.48688399T>A | CA412872369 | WAS | n.121T>A c.877T>A (p.Phe293Ile) | |
X | g.48688399T>C | CA412872370 | WAS | n.121T>C c.877T>C (p.Phe293Leu) | COSMIC |
X | g.48688399T>G | CA412872371 | WAS | n.121T>G c.877T>G (p.Phe293Val) | |
X | g.48688400del | CA2695234058 | WAS | n.122del c.878del (p.Phe293SerfsTer15) | |
X | g.48688400T>A | CA412872372 | WAS | n.122T>A c.878T>A (p.Phe293Tyr) | |
X | g.48688400T>C | CA412872373 | WAS | n.122T>C c.878T>C (p.Phe293Ser) | |
X | g.48688400T>G | CA412872374 | WAS | n.122T>G c.878T>G (p.Phe293Cys) | |
X | g.48688401C>A | CA412872375 | WAS | n.123C>A c.879C>A (p.Phe293Leu) | |
X | g.48688401C>G | CA412872376 | WAS | n.123C>G c.879C>G (p.Phe293Leu) | |
X | g.48688401C>T | CA516023740 | WAS | n.123C>T c.879C>T (p.Phe293=) | |
X | g.48688402A>C | CA412872377 | WAS | n.124A>C c.880A>C (p.Ile294Leu) | |
X | g.48688402A>G | CA412872378 | WAS | n.124A>G c.880A>G (p.Ile294Val) | |
X | g.48688402A>T | CA412872379 | WAS | n.124A>T c.880A>T (p.Ile294Phe) | |
X | g.48688403T>A | CA412872381 | WAS | n.125T>A c.881T>A (p.Ile294Asn) | |
X | g.48688403T>C | CA281104 | WAS | n.125T>C c.881T>C (p.Ile294Thr) | ClinVar dbSNP |
X | g.48688403T>G | CA412872380 | WAS | n.125T>G c.881T>G (p.Ile294Ser) | |
X | g.48688403T= | CA2428355552 | WAS | n.125T= c.881T= (p.Ile294=) | |
X | g.48688404T>A | CA516023743 | WAS | n.126T>A c.882T>A (p.Ile294=) | |
X | g.48688404T>C | CA516023744 | WAS | n.126T>C c.882T>C (p.Ile294=) | |
X | g.48688404T>G | CA412872382 | WAS | n.126T>G c.882T>G (p.Ile294Met) | |
X | g.48688405G>A | CA412872383 | WAS | n.127G>A c.883G>A (p.Glu295Lys) | |
X | g.48688405G>C | CA412872384 | WAS | n.127G>C c.883G>C (p.Glu295Gln) | |
X | g.48688405G>T | CA412872385 | WAS | n.127G>T c.883G>T (p.Glu295Ter) | |
X | g.48688406A>C | CA412872386 | WAS | n.128A>C c.884A>C (p.Glu295Ala) | |
X | g.48688406A>G | CA412872387 | WAS | n.128A>G c.884A>G (p.Glu295Gly) | |
X | g.48688406A>T | CA412872388 | WAS | n.128A>T c.884A>T (p.Glu295Val) | |
X | g.48688407G>A | CA516023749 | WAS | n.129G>A c.885G>A (p.Glu295=) | gnomAD v4 |
X | g.48688407G>C | CA412872389 | WAS | n.129G>C c.885G>C (p.Glu295Asp) | |
X | g.48688407G>T | CA412872390 | WAS | n.129G>T c.885G>T (p.Glu295Asp) | |
X | g.48688408G>A | CA412872391 | WAS | n.130G>A c.886G>A (p.Asp296Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688408G>C | CA412872392 | WAS | n.130G>C c.886G>C (p.Asp296His) | |
X | g.48688408G= | CA2428355553 | WAS | n.130G= c.886G= (p.Asp296=) | |
X | g.48688408G>T | CA412872393 | WAS | n.130G>T c.886G>T (p.Asp296Tyr) | |
X | g.48688409A>C | CA412872395 | WAS | n.131A>C c.887A>C (p.Asp296Ala) | |
X | g.48688409A>G | CA412872396 | WAS | n.131A>G c.887A>G (p.Asp296Gly) | |
X | g.48688409A>T | CA412872394 | WAS | n.131A>T c.887A>T (p.Asp296Val) | |
X | g.48688410C>A | CA412872398 | WAS | n.132C>A c.888C>A (p.Asp296Glu) | |
X | g.48688410C= | CA2428355554 | WAS | n.132C= c.888C= (p.Asp296=) | |
X | g.48688410C>G | CA412872400 | WAS | n.132C>G c.888C>G (p.Asp296Glu) | dbSNP |
X | g.48688410C>T | CA516023758 | WAS | n.132C>T c.888C>T (p.Asp296=) | |
X | g.48688411del | CA2695234059 | WAS | n.133del c.889del (p.Gln297ArgfsTer11) | |
X | g.48688411C>A | CA412872402 | WAS | n.133C>A c.889C>A (p.Gln297Lys) | |
X | g.48688411C>G | CA412872404 | WAS | n.133C>G c.889C>G (p.Gln297Glu) | |
X | g.48688411C>T | CA412872406 | WAS | n.133C>T c.889C>T (p.Gln297Ter) | |
X | g.48688412A>C | CA412872408 | WAS | n.134A>C c.890A>C (p.Gln297Pro) | |
X | g.48688412A>G | CA412872410 | WAS | n.134A>G c.890A>G (p.Gln297Arg) | |
X | g.48688412A>T | CA412872412 | WAS | n.134A>T c.890A>T (p.Gln297Leu) | |
X | g.48688413G>A | CA516023762 | WAS | n.135G>A c.891G>A (p.Gln297=) | dbSNP |
X | g.48688413G>C | CA412872414 | WAS | n.135G>C c.891G>C (p.Gln297His) | |
X | g.48688413G= | CA2428355555 | WAS | n.135G= c.891G= (p.Gln297=) | |
X | g.48688413G>T | CA412872416 | WAS | n.135G>T c.891G>T (p.Gln297His) | |
X | g.48688415del | CA2695234060 | WAS | n.137del c.893del (p.Gly298ValfsTer10) | |
X | g.48688414G>A | CA412872418 | WAS | n.136G>A c.892G>A (p.Gly298Ser) | gnomAD v4 |
X | g.48688414G>C | CA412872420 | WAS | n.136G>C c.892G>C (p.Gly298Arg) | |
X | g.48688414G>T | CA412872422 | WAS | n.136G>T c.892G>T (p.Gly298Cys) | |
X | g.48688415G>A | CA412872427 | WAS | n.137G>A c.893G>A (p.Gly298Asp) | |
X | g.48688415G>C | CA412872426 | WAS | n.137G>C c.893G>C (p.Gly298Ala) | |
X | g.48688415G>T | CA412872424 | WAS | n.137G>T c.893G>T (p.Gly298Val) | |
X | g.48688416T>A | CA516023767 | WAS | n.138T>A c.894T>A (p.Gly298=) | gnomAD v4 |
X | g.48688416T>C | CA516023769 | WAS | n.138T>C c.894T>C (p.Gly298=) | |
X | g.48688416T>G | CA516023770 | WAS | n.138T>G c.894T>G (p.Gly298=) | |
X | g.48688417G>A | CA412872429 | WAS | n.139G>A c.895G>A (p.Gly299Arg) | |
X | g.48688417G>C | CA412872431 | WAS | n.139G>C c.895G>C (p.Gly299Arg) | |
X | g.48688417G>T | CA412872432 | WAS | n.139G>T c.895G>T (p.Gly299Trp) | |
X | g.48688418G>A | CA412872435 | WAS | n.140G>A c.896G>A (p.Gly299Glu) | COSMIC |
X | g.48688418G>C | CA412872437 | WAS | n.140G>C c.896G>C (p.Gly299Ala) | |
X | g.48688418G>T | CA412872439 | WAS | n.140G>T c.896G>T (p.Gly299Val) | |
X | g.48688419G>A | CA10403998 | WAS | n.141G>A c.897G>A (p.Gly299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688419G>C | CA516023777 | WAS | n.141G>C c.897G>C (p.Gly299=) | |
X | g.48688419G= | CA2428355556 | WAS | n.141G= c.897G= (p.Gly299=) | |
X | g.48688419G>T | CA516023778 | WAS | n.141G>T c.897G>T (p.Gly299=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688420C>A | CA412872442 | WAS | n.142C>A c.898C>A (p.Leu300Met) | |
X | g.48688420C>G | CA412872444 | WAS | n.142C>G c.898C>G (p.Leu300Val) | |
X | g.48688420C>T | CA516023780 | WAS | n.142C>T c.898C>T (p.Leu300=) | |
X | g.48688421T>A | CA412872447 | WAS | n.143T>A c.899T>A (p.Leu300Gln) | |
X | g.48688421T>C | CA412872448 | WAS | n.143T>C c.899T>C (p.Leu300Pro) | |
X | g.48688421T>G | CA412872450 | WAS | n.143T>G c.899T>G (p.Leu300Arg) | |
X | g.48688422G>A | CA516023782 | WAS | n.144G>A c.900G>A (p.Leu300=) | |
X | g.48688422G>C | CA516023784 | WAS | n.144G>C c.900G>C (p.Leu300=) | |
X | g.48688422G>T | CA516023786 | WAS | n.144G>T c.900G>T (p.Leu300=) | |
X | g.48688423G>A | CA412872453 | WAS | n.145G>A c.901G>A (p.Glu301Lys) | |
X | g.48688423G>C | CA412872457 | WAS | n.145G>C c.901G>C (p.Glu301Gln) | |
X | g.48688423G>T | CA412872455 | WAS | n.145G>T c.901G>T (p.Glu301Ter) | |
X | g.48688424A>C | CA412872459 | WAS | n.146A>C c.902A>C (p.Glu301Ala) | |
X | g.48688424A>G | CA412872463 | WAS | n.146A>G c.902A>G (p.Glu301Gly) | |
X | g.48688424A>T | CA412872461 | WAS | n.146A>T c.902A>T (p.Glu301Val) | |
X | g.48688425G>A | CA516023789 | WAS | n.147G>A c.903G>A (p.Glu301=) | |
X | g.48688425G>C | CA10403999 | WAS | n.147G>C c.903G>C (p.Glu301Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688425G= | CA2428355557 | WAS | n.147G= c.903G= (p.Glu301=) | |
X | g.48688425G>T | CA412872465 | WAS | n.147G>T c.903G>T (p.Glu301Asp) | |
X | g.48688426G>A | CA412872467 | WAS | n.148G>A c.904G>A (p.Ala302Thr) | |
X | g.48688426G>C | CA412872469 | WAS | n.148G>C c.904G>C (p.Ala302Pro) | |
X | g.48688426G>T | CA412872471 | WAS | n.148G>T c.904G>T (p.Ala302Ser) | |
X | g.48688427C>A | CA412872473 | WAS | n.149C>A c.905C>A (p.Ala302Asp) | |
X | g.48688427C>G | CA412872475 | WAS | n.149C>G c.905C>G (p.Ala302Gly) | |
X | g.48688427C>T | CA412872476 | WAS | n.149C>T c.905C>T (p.Ala302Val) | |
X | g.48688428T>A | CA516023794 | WAS | n.150T>A c.906T>A (p.Ala302=) | |
X | g.48688428T>C | CA516023795 | WAS | n.150T>C c.906T>C (p.Ala302=) | |
X | g.48688428T>G | CA516023796 | WAS | n.150T>G c.906T>G (p.Ala302=) | |
X | g.48688429G>A | CA412872478 | WAS | n.151G>A c.907G>A (p.Val303Met) | |
X | g.48688429G>C | CA412872480 | WAS | n.151G>C c.907G>C (p.Val303Leu) | |
X | g.48688429G>T | CA412872482 | WAS | n.151G>T c.907G>T (p.Val303Leu) | |
X | g.48688430T>A | CA412872484 | WAS | n.152T>A c.908T>A (p.Val303Glu) | |
X | g.48688430T>C | CA412872486 | WAS | n.152T>C c.908T>C (p.Val303Ala) | |
X | g.48688430T>G | CA412872488 | WAS | n.152T>G c.908T>G (p.Val303Gly) | |
X | g.48688431G>A | CA516023798 | WAS | n.153G>A c.909G>A (p.Val303=) | |
X | g.48688431G>C | CA516023799 | WAS | n.153G>C c.909G>C (p.Val303=) | |
X | g.48688431G>T | CA516023800 | WAS | n.153G>T c.909G>T (p.Val303=) | |
X | g.48688432C>A | CA516023803 | WAS | n.154C>A c.910C>A (p.Arg304=) | |
X | g.48688432C= | CA2428355558 | WAS | n.154C= c.910C= (p.Arg304=) | |
X | g.48688432C>G | CA412872491 | WAS | n.154C>G c.910C>G (p.Arg304Gly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688432C>T | CA10404000 | WAS | n.154C>T c.910C>T (p.Arg304Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688433G>A | CA412872493 | WAS | n.155G>A c.911G>A (p.Arg304Gln) | gnomAD v4 |
X | g.48688433G>C | CA412872496 | WAS | n.155G>C c.911G>C (p.Arg304Pro) | |
X | g.48688433G>T | CA412872498 | WAS | n.155G>T c.911G>T (p.Arg304Leu) | |
X | g.48688434G>A | CA10404001 | WAS | n.156G>A c.912G>A (p.Arg304=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688434G>C | CA516023805 | WAS | n.156G>C c.912G>C (p.Arg304=) | |
X | g.48688434G= | CA2428355559 | WAS | n.156G= c.912G= (p.Arg304=) | |
X | g.48688434G>T | CA516023804 | WAS | n.156G>T c.912G>T (p.Arg304=) | |
X | g.48688435C>A | CA412872500 | WAS | n.157C>A c.913C>A (p.Gln305Lys) | |
X | g.48688435C>G | CA412872502 | WAS | n.157C>G c.913C>G (p.Gln305Glu) | |
X | g.48688435C>T | CA412872504 | WAS | n.157C>T c.913C>T (p.Gln305Ter) | |
X | g.48688436A>C | CA412872507 | WAS | n.158A>C c.914A>C (p.Gln305Pro) | |
X | g.48688436A>G | CA412872508 | WAS | n.158A>G c.914A>G (p.Gln305Arg) | |
X | g.48688436A>T | CA412872509 | WAS | n.158A>T c.914A>T (p.Gln305Leu) | |
X | g.48688437G>A | CA516023813 | WAS | n.159G>A c.915G>A (p.Gln305=) | |
X | g.48688437G>C | CA412872511 | WAS | n.159G>C c.915G>C (p.Gln305His) | |
X | g.48688437G>T | CA412872513 | WAS | n.159G>T c.915G>T (p.Gln305His) | |
X | g.48688438G>A | CA412872519 | WAS | n.160G>A c.916G>A (p.Glu306Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.48688438G>C | CA412872517 | WAS | n.160G>C c.916G>C (p.Glu306Gln) | |
X | g.48688438G= | CA2428355560 | WAS | n.160G= c.916G= (p.Glu306=) | |
X | g.48688438G>T | CA412872515 | WAS | n.160G>T c.916G>T (p.Glu306Ter) | |
X | g.48688439A>C | CA412872521 | WAS | n.161A>C c.917A>C (p.Glu306Ala) | |
X | g.48688439A>G | CA412872522 | WAS | n.161A>G c.917A>G (p.Glu306Gly) | |
X | g.48688439A>T | CA412872524 | WAS | n.161A>T c.917A>T (p.Glu306Val) | |
X | g.48688440G>A | CA516023819 | WAS | n.162G>A c.918G>A (p.Glu306=) | |
X | g.48688440G>C | CA412872526 | WAS | n.162G>C c.918G>C (p.Glu306Asp) | |
X | g.48688440G>T | CA412872528 | WAS | n.162G>T c.918G>T (p.Glu306Asp) | |
X | g.48688441A= | CA2428355561 | WAS | n.163A= c.919A= (p.Met307=) | |
X | g.48688441A>C | CA412872529 | WAS | n.163A>C c.919A>C (p.Met307Leu) | |
X | g.48688441A>G | CA412872531 | WAS | n.163A>G c.919A>G (p.Met307Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48688441A>T | CA412872533 | WAS | n.163A>T c.919A>T (p.Met307Leu) | |
X | g.48688442T>A | CA412872535 | WAS | n.164T>A c.920T>A (p.Met307Lys) | |
X | g.48688442T>C | CA412872537 | WAS | n.164T>C c.920T>C (p.Met307Thr) | |
X | g.48688442T>G | CA412872539 | WAS | n.164T>G c.920T>G (p.Met307Arg) | |
X | g.48688443G>A | CA412872544 | WAS | n.165G>A c.921G>A (p.Met307Ile) | gnomAD v4 |
X | g.48688443G>C | CA412872543 | WAS | n.165G>C c.921G>C (p.Met307Ile) | |
X | g.48688443G>T | CA412872541 | WAS | n.165G>T c.921G>T (p.Met307Ile) | |
X | g.48688444A>C | CA516023823 | WAS | n.166A>C c.922A>C (p.Arg308=) | |
X | g.48688444A>G | CA412872545 | WAS | n.166A>G c.922A>G (p.Arg308Gly) | |
X | g.48688444A>T | CA412872546 | WAS | n.166A>T c.922A>T (p.Arg308Trp) | |
X | g.48688445G>A | CA412872548 | WAS | n.167G>A c.923G>A (p.Arg308Lys) | |
X | g.48688445G>C | CA412872550 | WAS | n.167G>C c.923G>C (p.Arg308Thr) | |
X | g.48688445G>T | CA412872552 | WAS | n.167G>T c.923G>T (p.Arg308Met) | |
X | g.48688446G>A | CA516023828 | WAS | n.168G>A c.924G>A (p.Arg308=) | |
X | g.48688446G>C | CA412872554 | WAS | n.168G>C c.924G>C (p.Arg308Ser) | |
X | g.48688446G>T | CA412872556 | WAS | n.168G>T c.924G>T (p.Arg308Ser) | |
X | g.48688447C>A | CA412872558 | WAS | n.169C>A c.925C>A (p.Arg309Ser) | |
X | g.48688447C= | CA2428355562 | WAS | n.169C= c.925C= (p.Arg309=) | |
X | g.48688447C>G | CA412872562 | WAS | n.169C>G c.925C>G (p.Arg309Gly) | |
X | g.48688447C>T | CA412872565 | WAS | n.169C>T c.925C>T (p.Arg309Cys) | ClinVar dbSNP COSMIC |
X | g.48688448G>A | CA412872568 | WAS | n.170G>A c.926G>A (p.Arg309His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.48688448G>C | CA412872569 | WAS | n.170G>C c.926G>C (p.Arg309Pro) | |
X | g.48688448G= | CA2428355563 | WAS | n.170G= c.926G= (p.Arg309=) | |
X | g.48688448G>T | CA412872571 | WAS | n.170G>T c.926G>T (p.Arg309Leu) | |
X | g.48688449C>A | CA516023832 | WAS | n.171C>A c.927C>A (p.Arg309=) | |
X | g.48688449C>G | CA516023833 | WAS | n.171C>G c.927C>G (p.Arg309=) | |
X | g.48688449C>T | CA516023834 | WAS | n.171C>T c.927C>T (p.Arg309=) | |
X | g.48688451_48688462del | CA2739290494 | WAS | n.173_175+9del c.929_931+9del | |
X | g.48688450C>A | CA412872577 | WAS | n.172C>A c.928C>A (p.Gln310Lys) | |
X | g.48688450C>G | CA412872575 | WAS | n.172C>G c.928C>G (p.Gln310Glu) | |
X | g.48688450C>T | CA412872573 | WAS | n.172C>T c.928C>T (p.Gln310Ter) | |
X | g.48688451A>C | CA412872581 | WAS | n.173A>C c.929A>C (p.Gln310Pro) | |
X | g.48688451A>G | CA412872579 | WAS | n.173A>G c.929A>G (p.Gln310Arg) | |
X | g.48688451A>T | CA412872582 | WAS | n.173A>T c.929A>T (p.Gln310Leu) | |
X | g.48688452G>A | CA516023839 | WAS | n.174G>A c.930G>A (p.Gln310=) | |
X | g.48688452G>C | CA412872584 | WAS | n.174G>C c.930G>C (p.Gln310His) | |
X | g.48688452G>T | CA412872586 | WAS | n.174G>T c.930G>T (p.Gln310His) | |
X | g.48688453G>A | CA412872588 | WAS | n.175G>A c.931G>A (p.Glu311Lys) c.931G>A (p.Gly311Ser) | |
X | g.48688453G>C | CA412872590 | WAS | n.175G>C c.931G>C (p.Glu311Gln) c.931G>C (p.Gly311Arg) | |
X | g.48688453G>T | CA412872592 | WAS | n.175G>T c.931G>T (p.Glu311Ter) c.931G>T (p.Gly311Cys) | |
X | g.48688454G>A | CA412872594 | WAS | n.175+1G>A c.931+1G>A (n.931+1G>A) | |
X | g.48688454G>C | CA412872595 | WAS | n.175+1G>C c.931+1G>C (n.931+1G>C) | |
X | g.48688454G>T | CA412872597 | WAS | n.175+1G>T c.931+1G>T (n.931+1G>T) | |
X | g.48688455_48688458del | CA2695234061 | WAS | n.175+2_175+5del c.931+2_931+5del (n.931+2_931+5del) | |
X | g.48688455T>A | CA412872599 | WAS | n.175+2T>A c.931+2T>A (n.931+2T>A) | |
X | g.48688455T>C | CA412872601 | WAS | n.175+2T>C c.931+2T>C (n.931+2T>C) | |
X | g.48688455T>G | CA412872603 | WAS | n.175+2T>G c.931+2T>G (n.931+2T>G) | |
X | g.48688455T= | CA2428355564 | WAS | n.175+2T= c.931+2T= (n.931+2T=) | |
X | g.48688458_48688459dup | CA10404002 | WAS | n.175+5_175+6dup c.931+5_931+6dup (n.931+5_931+6dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688457A>G | CA2693644314 | WAS | n.175+4A>G c.931+4A>G (n.931+4A>G) | gnomAD v4 |
X | g.48688458G>C | CA2580101056 | WAS | n.175+5G>C c.931+5G>C (n.931+5G>C) | ClinVar |
X | g.48688459A>C | CA2541441211 | WAS | n.175+6A>C c.931+6A>C (n.931+6A>C) | gnomAD v4 |
X | g.48688460C>A | CA875916646 | WAS | n.175+7C>A c.931+7C>A (n.931+7C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48688460C= | CA2428355565 | WAS | n.175+7C= c.931+7C= (n.931+7C=) | |
X | g.48688463T>A | CA2740092133 | WAS | n.175+10T>A c.931+10T>A (n.931+10T>A) | ClinVar |
X | g.48688467T>C | CA875916650 | WAS | n.175+14T>C c.931+14T>C (n.931+14T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48688467T= | CA2428355566 | WAS | n.175+14T= c.931+14T= (n.931+14T=) | |
X | g.48688468C= | CA2428355567 | WAS | n.175+15C= c.931+15C= (n.931+15C=) | |
X | g.48688468C>T | CA10404003 | WAS | n.175+15C>T c.931+15C>T (n.931+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688469C>T | CA2579600697 | WAS | n.175+16C>T c.931+16C>T (n.931+16C>T) | |
X | g.48688470A>G | CA2693644315 | WAS | n.175+17A>G c.931+17A>G (n.931+17A>G) | gnomAD v4 |
X | g.48688471T>A | CA2579600698 | WAS | n.175+18T>A c.931+18T>A (n.931+18T>A) | |
X | g.48688472A>C | CA2740092134 | WAS | n.175+19A>C c.931+19A>C (n.931+19A>C) | ClinVar |
X | g.48688472A>T | CA2693644316 | WAS | n.175+19A>T c.931+19A>T (n.931+19A>T) | gnomAD v4 |
X | g.48688473C>A | CA10404004 | WAS | n.175+20C>A c.931+20C>A (n.931+20C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688473C= | CA2428355568 | WAS | n.175+20C= c.931+20C= (n.931+20C=) | |
X | g.48688473C>G | CA2820813137 | WAS | n.175+20C>G c.931+20C>G (n.931+20C>G) | |
X | g.48688473C>T | CA641901813 | WAS | n.175+20C>T c.931+20C>T (n.931+20C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688474G>A | CA641901814 | WAS | n.175+21G>A c.931+21G>A (n.931+21G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688474G= | CA2428355569 | WAS | n.175+21G= c.931+21G= (n.931+21G=) | |
X | g.48688476T>A | CA10404005 | WAS | n.175+23T>A c.931+23T>A (n.931+23T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688476T= | CA2428355570 | WAS | n.175+23T= c.931+23T= (n.931+23T=) | |
X | g.48688479C= | CA2428355571 | WAS | n.175+26C= c.931+26C= (n.931+26C=) | |
X | g.48688479C>G | CA10404006 | WAS | n.175+26C>G c.931+26C>G (n.931+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688479C>T | CA2428355572 | WAS | n.175+26C>T c.931+26C>T (n.931+26C>T) | dbSNP |
X | g.48688480T>C | CA2820813145 | WAS | n.175+27T>C c.931+27T>C (n.931+27T>C) | |
X | g.48688482C>A | CA2428355574 | WAS | n.175+29C>A c.931+29C>A (n.931+29C>A) | dbSNP |
X | g.48688482C= | CA2428355573 | WAS | n.175+29C= c.931+29C= (n.931+29C=) | |
X | g.48688482C>T | CA658179146 | WAS | n.175+29C>T c.931+29C>T (n.931+29C>T) | COSMIC |
X | g.48688484C= | CA2428355575 | WAS | n.175+31C= c.931+31C= (n.931+31C=) | |
X | g.48688484C>G | CA875916662 | WAS | n.175+31C>G c.931+31C>G (n.931+31C>G) | dbSNP gnomAD v3 gnomAD v4 |