| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48689000_48689017del | CA2695233799 | WAS | n.516_533del c.1272_1289del (p.Leu425_Gly430del) c.1116_1133del (p.Leu373_Gly378del) | |
| X | g.48688998_48689023del | CA2573158943 | WAS | n.514_539del c.1270_1295del (p.Gly424SerfsTer?) c.1114_1139del (p.Gly372SerfsTer?) | ClinVar dbSNP |
| X | g.48689001_48689046del | CA2580101069 | WAS | n.517_562del c.1273_1318del (p.Leu425ArgfsTer5) c.1117_1162del (p.Leu373ArgfsTer5) | ClinVar |
| X | g.48689005_48689014del | CA2695233800 | WAS | n.521_530del c.1277_1286del (p.Ala426GlyfsTer16) c.1121_1130del (p.Ala374GlyfsTer16) | |
| X | g.48689008C>A | CA412873637 | WAS | n.524C>A c.1280C>A (p.Pro427His) c.1124C>A (p.Pro375His) | |
| X | g.48689008C= | CA2428355791 | WAS | n.524C= c.1280C= (p.Pro427=) c.1124C= (p.Pro375=) | |
| X | g.48689008C>G | CA412873638 | WAS | n.524C>G c.1280C>G (p.Pro427Arg) c.1124C>G (p.Pro375Arg) | |
| X | g.48689008C>T | CA10404066 | WAS | n.524C>T c.1280C>T (p.Pro427Leu) c.1124C>T (p.Pro375Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689009T>A | CA516356492 | WAS | n.525T>A c.1281T>A (p.Pro427=) c.1125T>A (p.Pro375=) | |
| X | g.48689009T>C | CA516356493 | WAS | n.525T>C c.1281T>C (p.Pro427=) c.1125T>C (p.Pro375=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689009T>G | CA516356494 | WAS | n.525T>G c.1281T>G (p.Pro427=) c.1125T>G (p.Pro375=) | |
| X | g.48689009T= | CA2428355792 | WAS | n.525T= c.1281T= (p.Pro427=) c.1125T= (p.Pro375=) | |
| X | g.48689010G>A | CA412873641 | WAS | n.526G>A c.1282G>A (p.Gly428Ser) c.1126G>A (p.Gly376Ser) | |
| X | g.48689010G>C | CA412873640 | WAS | n.526G>C c.1282G>C (p.Gly428Arg) c.1126G>C (p.Gly376Arg) | |
| X | g.48689010G>T | CA412873639 | WAS | n.526G>T c.1282G>T (p.Gly428Cys) c.1126G>T (p.Gly376Cys) | |
| X | g.48689011G>A | CA412873642 | WAS | n.527G>A c.1283G>A (p.Gly428Asp) c.1127G>A (p.Gly376Asp) | |
| X | g.48689011G>C | CA412873643 | WAS | n.527G>C c.1283G>C (p.Gly428Ala) c.1127G>C (p.Gly376Ala) | gnomAD v4 |
| X | g.48689011G>T | CA412873644 | WAS | n.527G>T c.1283G>T (p.Gly428Val) c.1127G>T (p.Gly376Val) | gnomAD v4 |
| X | g.48689012T>A | CA516356497 | WAS | n.528T>A c.1284T>A (p.Gly428=) c.1128T>A (p.Gly376=) | |
| X | g.48689012T>C | CA516356495 | WAS | n.528T>C c.1284T>C (p.Gly428=) c.1128T>C (p.Gly376=) | |
| X | g.48689012T>G | CA516356496 | WAS | n.528T>G c.1284T>G (p.Gly428=) c.1128T>G (p.Gly376=) | gnomAD v3 gnomAD v4 |
| X | g.48689013G>A | CA412873645 | WAS | n.529G>A c.1285G>A (p.Gly429Arg) c.1129G>A (p.Gly377Arg) | |
| X | g.48689013G>C | CA10404067 | WAS | n.529G>C c.1285G>C (p.Gly429Arg) c.1129G>C (p.Gly377Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689013G= | CA2428355793 | WAS | n.529G= c.1285G= (p.Gly429=) c.1129G= (p.Gly377=) | |
| X | g.48689013G>T | CA412873646 | WAS | n.529G>T c.1285G>T (p.Gly429Trp) c.1129G>T (p.Gly377Trp) | gnomAD v4 |
| X | g.48689017dup | CA2695233803 | WAS | n.533dup c.1289dup (p.Arg431SerfsTer?) c.1133dup (p.Arg379SerfsTer?) | |
| X | g.48689014_48689017dup | CA2695233802 | WAS | n.530_533dup c.1286_1289dup (p.Arg431GlyfsTer?) c.1130_1133dup (p.Arg379GlyfsTer?) | |
| X | g.48689017del | CA2695233804 | WAS | n.533del c.1289del (p.Gly430ValfsTer15) c.1133del (p.Gly378ValfsTer15) | |
| X | g.48689016_48689023del | CA2695233801 | WAS | n.532_539del c.1288_1295del (p.Gly430SerfsTer?) c.1132_1139del (p.Gly378SerfsTer?) | |
| X | g.48689014G>A | CA412873647 | WAS | n.530G>A c.1286G>A (p.Gly429Glu) c.1130G>A (p.Gly377Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689014G>C | CA412873649 | WAS | n.530G>C c.1286G>C (p.Gly429Ala) c.1130G>C (p.Gly377Ala) | |
| X | g.48689014G= | CA2428355794 | WAS | n.530G= c.1286G= (p.Gly429=) c.1130G= (p.Gly377=) | |
| X | g.48689014G>T | CA412873648 | WAS | n.530G>T c.1286G>T (p.Gly429Val) c.1130G>T (p.Gly377Val) | gnomAD v4 |
| X | g.48689015G>A | CA516356498 | WAS | n.531G>A c.1287G>A (p.Gly429=) c.1131G>A (p.Gly377=) | |
| X | g.48689015G>C | CA516356499 | WAS | n.531G>C c.1287G>C (p.Gly429=) c.1131G>C (p.Gly377=) | |
| X | g.48689015G>T | CA516356500 | WAS | n.531G>T c.1287G>T (p.Gly429=) c.1131G>T (p.Gly377=) | |
| X | g.48689016G>A | CA412873650 | WAS | n.532G>A c.1288G>A (p.Gly430Ser) c.1132G>A (p.Gly378Ser) | |
| X | g.48689016G>C | CA412873651 | WAS | n.532G>C c.1288G>C (p.Gly430Arg) c.1132G>C (p.Gly378Arg) | |
| X | g.48689016G>T | CA412873652 | WAS | n.532G>T c.1288G>T (p.Gly430Cys) c.1132G>T (p.Gly378Cys) | |
| X | g.48689017G>A | CA412873653 | WAS | n.533G>A c.1289G>A (p.Gly430Asp) c.1133G>A (p.Gly378Asp) | gnomAD v4 |
| X | g.48689017G>C | CA412873654 | WAS | n.533G>C c.1289G>C (p.Gly430Ala) c.1133G>C (p.Gly378Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689017G= | CA2428355795 | WAS | n.533G= c.1289G= (p.Gly430=) c.1133G= (p.Gly378=) | |
| X | g.48689017G>T | CA412873655 | WAS | n.533G>T c.1289G>T (p.Gly430Val) c.1133G>T (p.Gly378Val) | ClinVar dbSNP gnomAD v4 |
| X | g.48689018T>A | CA516356501 | WAS | n.534T>A c.1290T>A (p.Gly430=) c.1134T>A (p.Gly378=) | |
| X | g.48689018T>C | CA516356502 | WAS | n.534T>C c.1290T>C (p.Gly430=) c.1134T>C (p.Gly378=) | |
| X | g.48689018T>G | CA516356503 | WAS | n.534T>G c.1290T>G (p.Gly430=) c.1134T>G (p.Gly378=) | |
| X | g.48689019C>A | CA516356504 | WAS | n.535C>A c.1291C>A (p.Arg431=) c.1135C>A (p.Arg379=) | COSMIC |
| X | g.48689019C= | CA2428355796 | WAS | n.535C= c.1291C= (p.Arg431=) c.1135C= (p.Arg379=) | |
| X | g.48689019C>G | CA412873656 | WAS | n.535C>G c.1291C>G (p.Arg431Gly) c.1135C>G (p.Arg379Gly) | |
| X | g.48689019C>T | CA412873657 | WAS | n.535C>T c.1291C>T (p.Arg431Trp) c.1135C>T (p.Arg379Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689020G>A | CA412873658 | WAS | n.536G>A c.1292G>A (p.Arg431Gln) n.1G>A c.1136G>A (p.Arg379Gln) | dbSNP gnomAD v4 |
| X | g.48689020G>C | CA412873659 | WAS | n.536G>C c.1292G>C (p.Arg431Pro) n.1G>C c.1136G>C (p.Arg379Pro) | |
| X | g.48689020G= | CA2428355797 | WAS | n.536G= c.1292G= (p.Arg431=) n.1G= c.1136G= (p.Arg379=) | |
| X | g.48689020G>T | CA412873660 | WAS | n.536G>T c.1292G>T (p.Arg431Leu) n.1G>T c.1136G>T (p.Arg379Leu) | gnomAD v4 |
| X | g.48689023dup | CA2573055338 | WAS | n.539dup c.1295dup (p.Ala433SerfsTer?) n.4dup c.1139dup (p.Ala381SerfsTer?) | ClinVar dbSNP |
| X | g.48689023del | CA2695233805 | WAS | n.539del c.1295del (p.Gly432GlufsTer13) n.4del c.1139del (p.Gly380GlufsTer13) | |
| X | g.48689021G>A | CA10404068 | WAS | n.537G>A c.1293G>A (p.Arg431=) n.2G>A c.1137G>A (p.Arg379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689021G>C | CA516356505 | WAS | n.537G>C c.1293G>C (p.Arg431=) n.2G>C c.1137G>C (p.Arg379=) | gnomAD v4 |
| X | g.48689021G= | CA2428355798 | WAS | n.537G= c.1293G= (p.Arg431=) n.2G= c.1137G= (p.Arg379=) | |
| X | g.48689021G>T | CA516356506 | WAS | n.537G>T c.1293G>T (p.Arg431=) n.2G>T c.1137G>T (p.Arg379=) | |
| X | g.48689022G>A | CA412873661 | WAS | n.538G>A c.1294G>A (p.Gly432Arg) n.3G>A c.1138G>A (p.Gly380Arg) | |
| X | g.48689022G>C | CA412873663 | WAS | n.538G>C c.1294G>C (p.Gly432Arg) n.3G>C c.1138G>C (p.Gly380Arg) | |
| X | g.48689022G>T | CA412873662 | WAS | n.538G>T c.1294G>T (p.Gly432Ter) n.3G>T c.1138G>T (p.Gly380Ter) | gnomAD v4 |
| X | g.48689023G>A | CA412873664 | WAS | n.539G>A c.1295G>A (p.Gly432Glu) n.4G>A c.1139G>A (p.Gly380Glu) | gnomAD v4 |
| X | g.48689023G>C | CA412873665 | WAS | n.539G>C c.1295G>C (p.Gly432Ala) n.4G>C c.1139G>C (p.Gly380Ala) | |
| X | g.48689023G>T | CA412873666 | WAS | n.539G>T c.1295G>T (p.Gly432Val) n.4G>T c.1139G>T (p.Gly380Val) | gnomAD v4 |
| X | g.48689024A>C | CA516356507 | WAS | n.540A>C c.1296A>C (p.Gly432=) n.5A>C c.1140A>C (p.Gly380=) | |
| X | g.48689024A>G | CA516356508 | WAS | n.540A>G c.1296A>G (p.Gly432=) n.5A>G c.1140A>G (p.Gly380=) | |
| X | g.48689024A>T | CA516356509 | WAS | n.540A>T c.1296A>T (p.Gly432=) n.5A>T c.1140A>T (p.Gly380=) | |
| X | g.48689025G>A | CA412873667 | WAS | n.541G>A c.1297G>A (p.Ala433Thr) n.6G>A c.1141G>A (p.Ala381Thr) | |
| X | g.48689025G>C | CA412873668 | WAS | n.541G>C c.1297G>C (p.Ala433Pro) n.6G>C c.1141G>C (p.Ala381Pro) | |
| X | g.48689025G>T | CA412873669 | WAS | n.541G>T c.1297G>T (p.Ala433Ser) n.6G>T c.1141G>T (p.Ala381Ser) | |
| X | g.48689025dup | CA2695233806 | WAS | n.541dup c.1297dup (p.Ala433GlyfsTer?) n.6dup c.1141dup (p.Ala381GlyfsTer?) | |
| X | g.48689026C>A | CA412873670 | WAS | n.542C>A c.1298C>A (p.Ala433Glu) n.7C>A c.1142C>A (p.Ala381Glu) | gnomAD v4 |
| X | g.48689026C= | CA2428355799 | WAS | n.542C= c.1298C= (p.Ala433=) n.7C= c.1142C= (p.Ala381=) | |
| X | g.48689026C>G | CA412873671 | WAS | n.542C>G c.1298C>G (p.Ala433Gly) n.7C>G c.1142C>G (p.Ala381Gly) | |
| X | g.48689026C>T | CA10404069 | WAS | n.542C>T c.1298C>T (p.Ala433Val) n.7C>T c.1142C>T (p.Ala381Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48689027G>A | CA207682 | WAS | n.543G>A c.1299G>A (p.Ala433=) n.8G>A c.1143G>A (p.Ala381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48689027G>C | CA516356510 | WAS | n.543G>C c.1299G>C (p.Ala433=) n.8G>C c.1143G>C (p.Ala381=) | |
| X | g.48689027G= | CA2428355800 | WAS | n.543G= c.1299G= (p.Ala433=) n.8G= c.1143G= (p.Ala381=) | |
| X | g.48689027G>T | CA516356511 | WAS | n.543G>T c.1299G>T (p.Ala433=) n.8G>T c.1143G>T (p.Ala381=) | ClinVar gnomAD v4 |
| X | g.48689028C>A | CA412873672 | WAS | n.544C>A c.1300C>A (p.Leu434Ile) n.9C>A c.1144C>A (p.Leu382Ile) | |
| X | g.48689028C= | CA2428355801 | WAS | n.544C= c.1300C= (p.Leu434=) n.9C= c.1144C= (p.Leu382=) | |
| X | g.48689028C>G | CA412873673 | WAS | n.544C>G c.1300C>G (p.Leu434Val) n.9C>G c.1144C>G (p.Leu382Val) | gnomAD v4 |
| X | g.48689028C>T | CA10404070 | WAS | n.544C>T c.1300C>T (p.Leu434Phe) n.9C>T c.1144C>T (p.Leu382Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689029T>A | CA412873674 | WAS | n.545T>A c.1301T>A (p.Leu434His) n.10T>A c.1145T>A (p.Leu382His) | |
| X | g.48689029T>C | CA412873676 | WAS | n.545T>C c.1301T>C (p.Leu434Pro) n.10T>C c.1145T>C (p.Leu382Pro) | |
| X | g.48689029T>G | CA412873675 | WAS | n.545T>G c.1301T>G (p.Leu434Arg) n.10T>G c.1145T>G (p.Leu382Arg) | |
| X | g.48689030T>A | CA516356512 | WAS | n.546T>A c.1302T>A (p.Leu434=) n.11T>A c.1146T>A (p.Leu382=) | |
| X | g.48689030T>C | CA516356513 | WAS | n.546T>C c.1302T>C (p.Leu434=) n.11T>C c.1146T>C (p.Leu382=) | |
| X | g.48689030T>G | CA516356514 | WAS | n.546T>G c.1302T>G (p.Leu434=) n.11T>G c.1146T>G (p.Leu382=) | |
| X | g.48689031T>A | CA412873677 | WAS | n.547T>A c.1303T>A (p.Leu435Met) n.12T>A c.1147T>A (p.Leu383Met) | |
| X | g.48689031T>C | CA516356515 | WAS | n.547T>C c.1303T>C (p.Leu435=) n.12T>C c.1147T>C (p.Leu383=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689031T>G | CA412873678 | WAS | n.547T>G c.1303T>G (p.Leu435Val) n.12T>G c.1147T>G (p.Leu383Val) | |
| X | g.48689031T= | CA2428355802 | WAS | n.547T= c.1303T= (p.Leu435=) n.12T= c.1147T= (p.Leu383=) | |
| X | g.48689032T>A | CA412873679 | WAS | n.548T>A c.1304T>A (p.Leu435Ter) n.13T>A c.1148T>A (p.Leu383Ter) | |
| X | g.48689032T>C | CA412873680 | WAS | n.548T>C c.1304T>C (p.Leu435Ser) n.13T>C c.1148T>C (p.Leu383Ser) | |
| X | g.48689032T>G | CA412873681 | WAS | n.548T>G c.1304T>G (p.Leu435Trp) n.13T>G c.1148T>G (p.Leu383Trp) | dbSNP |
| X | g.48689032T= | CA2428355803 | WAS | n.548T= c.1304T= (p.Leu435=) n.13T= c.1148T= (p.Leu383=) | |
| X | g.48689033G>A | CA516356516 | WAS | n.549G>A c.1305G>A (p.Leu435=) n.14G>A c.1149G>A (p.Leu383=) | |
| X | g.48689033G>C | CA412873682 | WAS | n.549G>C c.1305G>C (p.Leu435Phe) n.14G>C c.1149G>C (p.Leu383Phe) | |
| X | g.48689033G>T | CA412873683 | WAS | n.549G>T c.1305G>T (p.Leu435Phe) n.14G>T c.1149G>T (p.Leu383Phe) | gnomAD v4 |
| X | g.48689034G>A | CA412873684 | WAS | n.550G>A c.1306G>A (p.Asp436Asn) n.15G>A c.1150G>A (p.Asp384Asn) | |
| X | g.48689034G>C | CA412873685 | WAS | n.550G>C c.1306G>C (p.Asp436His) n.15G>C c.1150G>C (p.Asp384His) | |
| X | g.48689034G= | CA2428355804 | WAS | n.550G= c.1306G= (p.Asp436=) n.15G= c.1150G= (p.Asp384=) | |
| X | g.48689034G>T | CA10404071 | WAS | n.550G>T c.1306G>T (p.Asp436Tyr) n.15G>T c.1150G>T (p.Asp384Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689035A>C | CA412873686 | WAS | n.551A>C c.1307A>C (p.Asp436Ala) n.16A>C c.1151A>C (p.Asp384Ala) | |
| X | g.48689035A>G | CA412873688 | WAS | n.551A>G c.1307A>G (p.Asp436Gly) n.16A>G c.1151A>G (p.Asp384Gly) | |
| X | g.48689035A>T | CA412873687 | WAS | n.551A>T c.1307A>T (p.Asp436Val) n.16A>T c.1151A>T (p.Asp384Val) | |
| X | g.48689036T>A | CA412873689 | WAS | n.552T>A c.1308T>A (p.Asp436Glu) n.17T>A c.1152T>A (p.Asp384Glu) | |
| X | g.48689036T>C | CA516356517 | WAS | n.552T>C c.1308T>C (p.Asp436=) n.17T>C c.1152T>C (p.Asp384=) | |
| X | g.48689036T>G | CA412873690 | WAS | n.552T>G c.1308T>G (p.Asp436Glu) n.17T>G c.1152T>G (p.Asp384Glu) | |
| X | g.48689037C>A | CA412873691 | WAS | n.553C>A c.1309C>A (p.Gln437Lys) n.18C>A c.1153C>A (p.Gln385Lys) | |
| X | g.48689037C>G | CA412873692 | WAS | n.553C>G c.1309C>G (p.Gln437Glu) n.18C>G c.1153C>G (p.Gln385Glu) | |
| X | g.48689037C>T | CA412873693 | WAS | n.553C>T c.1309C>T (p.Gln437Ter) n.18C>T c.1153C>T (p.Gln385Ter) | gnomAD v4 |
| X | g.48689038A= | CA2428355805 | WAS | n.554A= c.1310A= (p.Gln437=) n.19A= c.1154A= (p.Gln385=) | |
| X | g.48689038A>C | CA412873694 | WAS | n.554A>C c.1310A>C (p.Gln437Pro) n.19A>C c.1154A>C (p.Gln385Pro) | ClinVar dbSNP |
| X | g.48689038A>G | CA412873695 | WAS | n.554A>G c.1310A>G (p.Gln437Arg) n.19A>G c.1154A>G (p.Gln385Arg) | |
| X | g.48689038A>T | CA412873696 | WAS | n.554A>T c.1310A>T (p.Gln437Leu) n.19A>T c.1154A>T (p.Gln385Leu) | |
| X | g.48689039A>C | CA412873697 | WAS | n.555A>C c.1311A>C (p.Gln437His) n.20A>C c.1155A>C (p.Gln385His) | |
| X | g.48689039A>G | CA516356518 | WAS | n.555A>G c.1311A>G (p.Gln437=) n.20A>G c.1155A>G (p.Gln385=) | |
| X | g.48689039A>T | CA412873698 | WAS | n.555A>T c.1311A>T (p.Gln437His) n.20A>T c.1155A>T (p.Gln385His) | |
| X | g.48689040A>C | CA412873699 | WAS | n.556A>C c.1312A>C (p.Ile438Leu) n.21A>C c.1156A>C (p.Ile386Leu) | |
| X | g.48689040A>G | CA412873700 | WAS | n.556A>G c.1312A>G (p.Ile438Val) n.21A>G c.1156A>G (p.Ile386Val) | |
| X | g.48689040A>T | CA412873701 | WAS | n.556A>T c.1312A>T (p.Ile438Phe) n.21A>T c.1156A>T (p.Ile386Phe) | |
| X | g.48689041T>A | CA412873704 | WAS | n.557T>A c.1313T>A (p.Ile438Asn) n.22T>A c.1157T>A (p.Ile386Asn) | |
| X | g.48689041T>C | CA412873703 | WAS | n.557T>C c.1313T>C (p.Ile438Thr) n.22T>C c.1157T>C (p.Ile386Thr) | |
| X | g.48689041T>G | CA412873702 | WAS | n.557T>G c.1313T>G (p.Ile438Ser) n.22T>G c.1157T>G (p.Ile386Ser) | |
| X | g.48689042C>A | CA10404072 | WAS | n.558C>A c.1314C>A (p.Ile438=) n.23C>A c.1158C>A (p.Ile386=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689042C= | CA2428355806 | WAS | n.558C= c.1314C= (p.Ile438=) n.23C= c.1158C= (p.Ile386=) | |
| X | g.48689042C>G | CA412873705 | WAS | n.558C>G c.1314C>G (p.Ile438Met) n.23C>G c.1158C>G (p.Ile386Met) | |
| X | g.48689042C>T | CA516356519 | WAS | n.558C>T c.1314C>T (p.Ile438=) n.23C>T c.1158C>T (p.Ile386=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689042_48689638delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA | CA2428355807 | WAS | c.1314_1453+204delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA c.1158_1297+204delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA | |
| X | g.48689043C>A | CA516356520 | WAS | n.559C>A c.1315C>A (p.Arg439=) n.24C>A c.1159C>A (p.Arg387=) | |
| X | g.48689043C>G | CA412873706 | WAS | n.559C>G c.1315C>G (p.Arg439Gly) n.24C>G c.1159C>G (p.Arg387Gly) | |
| X | g.48689043C>T | CA412873707 | WAS | n.559C>T c.1315C>T (p.Arg439Trp) n.24C>T c.1159C>T (p.Arg387Trp) | |
| X | g.48689043_48689638del | CA915951088 | WAS | c.1315_1453+204del c.1159_1297+204del | ClinVar dbSNP |
| X | g.48689044G>A | CA412873708 | WAS | n.560G>A c.1316G>A (p.Arg439Gln) n.25G>A c.1160G>A (p.Arg387Gln) | gnomAD v4 |
| X | g.48689044G>C | CA412873709 | WAS | n.560G>C c.1316G>C (p.Arg439Pro) n.25G>C c.1160G>C (p.Arg387Pro) | ClinVar dbSNP |
| X | g.48689044G= | CA2428355808 | WAS | n.560G= c.1316G= (p.Arg439=) n.25G= c.1160G= (p.Arg387=) | |
| X | g.48689044G>T | CA412873710 | WAS | n.560G>T c.1316G>T (p.Arg439Leu) n.25G>T c.1160G>T (p.Arg387Leu) | |
| X | g.48689045G>A | CA516356521 | WAS | n.561G>A c.1317G>A (p.Arg439=) n.26G>A c.1161G>A (p.Arg387=) | |
| X | g.48689045G>C | CA516356522 | WAS | n.561G>C c.1317G>C (p.Arg439=) n.26G>C c.1161G>C (p.Arg387=) | gnomAD v4 |
| X | g.48689045G= | CA2428355809 | WAS | n.561G= c.1317G= (p.Arg439=) n.26G= c.1161G= (p.Arg387=) | |
| X | g.48689045G>T | CA329102500 | WAS | n.561G>T c.1317G>T (p.Arg439=) n.26G>T c.1161G>T (p.Arg387=) | dbSNP gnomAD v4 |
| X | g.48689045_48689046delinsTT | CA2695233807 | WAS | n.561_562delinsTT c.1317_1318delinsTT (p.Arg440Ter) n.26_27delinsTT c.1161_1162delinsTT (p.Arg388Ter) | |
| X | g.48689046C>A | CA412873711 | WAS | n.562C>A c.1318C>A (p.Gln440Lys) n.27C>A c.1162C>A (p.Gln388Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689046C= | CA2428355810 | WAS | n.562C= c.1318C= (p.Gln440=) n.27C= c.1162C= (p.Gln388=) | |
| X | g.48689046C>G | CA412873712 | WAS | n.562C>G c.1318C>G (p.Gln440Glu) n.27C>G c.1162C>G (p.Gln388Glu) | |
| X | g.48689046C>T | CA412873713 | WAS | n.562C>T c.1318C>T (p.Gln440Ter) n.27C>T c.1162C>T (p.Gln388Ter) | ClinVar |
| X | g.48689047A>C | CA412873714 | WAS | n.563A>C c.1319A>C (p.Gln440Pro) n.28A>C c.1163A>C (p.Gln388Pro) | |
| X | g.48689047A>G | CA412873715 | WAS | n.563A>G c.1319A>G (p.Gln440Arg) n.28A>G c.1163A>G (p.Gln388Arg) | gnomAD v4 |
| X | g.48689047A>T | CA412873716 | WAS | n.563A>T c.1319A>T (p.Gln440Leu) n.28A>T c.1163A>T (p.Gln388Leu) | |
| X | g.48689048G>A | CA10404073 | WAS | n.564G>A c.1320G>A (p.Gln440=) n.29G>A c.1164G>A (p.Gln388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689048G>C | CA412873718 | WAS | n.564G>C c.1320G>C (p.Gln440His) n.29G>C c.1164G>C (p.Gln388His) | |
| X | g.48689048G= | CA2428355811 | WAS | n.564G= c.1320G= (p.Gln440=) n.29G= c.1164G= (p.Gln388=) | |
| X | g.48689048G>T | CA412873717 | WAS | n.564G>T c.1320G>T (p.Gln440His) n.29G>T c.1164G>T (p.Gln388His) | |
| X | g.48689049G>A | CA412873721 | WAS | n.565G>A c.1321G>A (p.Gly441Arg) n.30G>A c.1165G>A (p.Gly389Arg) | |
| X | g.48689049G>C | CA412873719 | WAS | n.565G>C c.1321G>C (p.Gly441Arg) n.30G>C c.1165G>C (p.Gly389Arg) | |
| X | g.48689049G>T | CA412873720 | WAS | n.565G>T c.1321G>T (p.Gly441Ter) n.30G>T c.1165G>T (p.Gly389Ter) | gnomAD v4 |
| X | g.48689050G>A | CA412873722 | WAS | n.566G>A c.1322G>A (p.Gly441Glu) n.31G>A c.1166G>A (p.Gly389Glu) | |
| X | g.48689050G>C | CA412873723 | WAS | n.566G>C c.1322G>C (p.Gly441Ala) n.31G>C c.1166G>C (p.Gly389Ala) | |
| X | g.48689050G>T | CA412873724 | WAS | n.566G>T c.1322G>T (p.Gly441Val) n.31G>T c.1166G>T (p.Gly389Val) | |
| X | g.48689051A>C | CA516356523 | WAS | n.567A>C c.1323A>C (p.Gly441=) n.32A>C c.1167A>C (p.Gly389=) | |
| X | g.48689051A>G | CA516356524 | WAS | n.567A>G c.1323A>G (p.Gly441=) n.32A>G c.1167A>G (p.Gly389=) | |
| X | g.48689051A>T | CA516356525 | WAS | n.567A>T c.1323A>T (p.Gly441=) n.32A>T c.1167A>T (p.Gly389=) | |
| X | g.48689052A= | CA2428355812 | WAS | n.568A= c.1324A= (p.Ile442=) n.33A= c.1168A= (p.Ile390=) | |
| X | g.48689052A>C | CA412873725 | WAS | n.568A>C c.1324A>C (p.Ile442Leu) n.33A>C c.1168A>C (p.Ile390Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689052A>G | CA412873726 | WAS | n.568A>G c.1324A>G (p.Ile442Val) n.33A>G c.1168A>G (p.Ile390Val) | |
| X | g.48689052A>T | CA412873727 | WAS | n.568A>T c.1324A>T (p.Ile442Phe) n.33A>T c.1168A>T (p.Ile390Phe) | |
| X | g.48689053T>A | CA412873728 | WAS | n.569T>A c.1325T>A (p.Ile442Asn) n.34T>A c.1169T>A (p.Ile390Asn) | |
| X | g.48689053T>C | CA412873729 | WAS | n.569T>C c.1325T>C (p.Ile442Thr) n.34T>C c.1169T>C (p.Ile390Thr) | |
| X | g.48689053T>G | CA412873730 | WAS | n.569T>G c.1325T>G (p.Ile442Ser) n.34T>G c.1169T>G (p.Ile390Ser) | |
| X | g.48689054T>A | CA516356526 | WAS | n.570T>A c.1326T>A (p.Ile442=) n.35T>A c.1170T>A (p.Ile390=) | |
| X | g.48689054T>C | CA516356527 | WAS | n.570T>C c.1326T>C (p.Ile442=) n.35T>C c.1170T>C (p.Ile390=) | |
| X | g.48689054T>G | CA412873731 | WAS | n.570T>G c.1326T>G (p.Ile442Met) n.35T>G c.1170T>G (p.Ile390Met) | |
| X | g.48689055C>A | CA412873734 | WAS | n.571C>A c.1327C>A (p.Gln443Lys) n.36C>A c.1171C>A (p.Gln391Lys) | |
| X | g.48689055C>G | CA412873733 | WAS | n.571C>G c.1327C>G (p.Gln443Glu) n.36C>G c.1171C>G (p.Gln391Glu) | |
| X | g.48689055C>T | CA412873732 | WAS | n.571C>T c.1327C>T (p.Gln443Ter) n.36C>T c.1171C>T (p.Gln391Ter) | |
| X | g.48689056A>C | CA412873735 | WAS | n.572A>C c.1328A>C (p.Gln443Pro) n.37A>C c.1172A>C (p.Gln391Pro) | |
| X | g.48689056A>G | CA412873736 | WAS | n.572A>G c.1328A>G (p.Gln443Arg) n.37A>G c.1172A>G (p.Gln391Arg) | |
| X | g.48689056A>T | CA412873737 | WAS | n.572A>T c.1328A>T (p.Gln443Leu) n.37A>T c.1172A>T (p.Gln391Leu) | |
| X | g.48689057G>A | CA516356528 | WAS | n.573G>A c.1329G>A (p.Gln443=) n.38G>A c.1173G>A (p.Gln391=) | |
| X | g.48689057G>C | CA412873738 | WAS | n.573G>C c.1329G>C (p.Gln443His) n.38G>C c.1173G>C (p.Gln391His) | gnomAD v4 |
| X | g.48689057G>T | CA412873739 | WAS | n.573G>T c.1329G>T (p.Gln443His) n.38G>T c.1173G>T (p.Gln391His) | gnomAD v4 |
| X | g.48689058C>A | CA412873740 | WAS | n.574C>A c.1330C>A (p.Leu444Met) n.39C>A c.1174C>A (p.Leu392Met) | |
| X | g.48689058C>G | CA412873741 | WAS | n.574C>G c.1330C>G (p.Leu444Val) n.39C>G c.1174C>G (p.Leu392Val) | |
| X | g.48689058C>T | CA516356529 | WAS | n.574C>T c.1330C>T (p.Leu444=) n.39C>T c.1174C>T (p.Leu392=) | gnomAD v4 |
| X | g.48689059T>A | CA412873742 | WAS | n.575T>A c.1331T>A (p.Leu444Gln) n.40T>A c.1175T>A (p.Leu392Gln) | |
| X | g.48689059T>C | CA412873743 | WAS | n.575T>C c.1331T>C (p.Leu444Pro) n.40T>C c.1175T>C (p.Leu392Pro) | |
| X | g.48689059T>G | CA412873744 | WAS | n.575T>G c.1331T>G (p.Leu444Arg) n.40T>G c.1175T>G (p.Leu392Arg) | |
| X | g.48689060G>A | CA516356530 | WAS | n.576G>A c.1332G>A (p.Leu444=) n.41G>A c.1176G>A (p.Leu392=) | |
| X | g.48689060G>C | CA516356531 | WAS | n.576G>C c.1332G>C (p.Leu444=) n.41G>C c.1176G>C (p.Leu392=) | gnomAD v4 |
| X | g.48689060G>T | CA516356532 | WAS | n.576G>T c.1332G>T (p.Leu444=) n.41G>T c.1176G>T (p.Leu392=) | gnomAD v4 |
| X | g.48689061A>C | CA412873745 | WAS | n.577A>C c.1333A>C (p.Asn445His) n.42A>C c.1177A>C (p.Asn393His) | |
| X | g.48689061A>G | CA412873746 | WAS | n.577A>G c.1333A>G (p.Asn445Asp) n.42A>G c.1177A>G (p.Asn393Asp) | |
| X | g.48689061A>T | CA412873747 | WAS | n.577A>T c.1333A>T (p.Asn445Tyr) n.42A>T c.1177A>T (p.Asn393Tyr) | gnomAD v4 |
| X | g.48689061_48689072delinsAACAAGGTGAGG | CA2428355813 | WAS | n.577_582+6delinsAACAAGGTGAGG c.1333_1338+6delinsAACAAGGTGAGG n.42_47+6delinsAACAAGGTGAGG c.1177_1182+6delinsAACAAGGTGAGG | |
| X | g.48689062A>C | CA412873749 | WAS | n.578A>C c.1334A>C (p.Asn445Thr) n.43A>C c.1178A>C (p.Asn393Thr) | |
| X | g.48689062A>G | CA412873750 | WAS | n.578A>G c.1334A>G (p.Asn445Ser) n.43A>G c.1178A>G (p.Asn393Ser) | |
| X | g.48689062A>T | CA412873748 | WAS | n.578A>T c.1334A>T (p.Asn445Ile) n.43A>T c.1178A>T (p.Asn393Ile) | |
| X | g.48689065_48689075del | CA915951089 | WAS | n.581_582+9del c.1337_1338+9del n.46_47+9del c.1181_1182+9del | ClinVar dbSNP |
| X | g.48689063C>A | CA412873751 | WAS | n.579C>A c.1335C>A (p.Asn445Lys) n.44C>A c.1179C>A (p.Asn393Lys) | |
| X | g.48689063C= | CA2428355814 | WAS | n.579C= c.1335C= (p.Asn445=) n.44C= c.1179C= (p.Asn393=) | |
| X | g.48689063C>G | CA412873752 | WAS | n.579C>G c.1335C>G (p.Asn445Lys) n.44C>G c.1179C>G (p.Asn393Lys) | |
| X | g.48689063C>T | CA516356533 | WAS | n.579C>T c.1335C>T (p.Asn445=) n.44C>T c.1179C>T (p.Asn393=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689064A>C | CA412873753 | WAS | n.580A>C c.1336A>C (p.Lys446Gln) n.45A>C c.1180A>C (p.Lys394Gln) | |
| X | g.48689064A>G | CA412873754 | WAS | n.580A>G c.1336A>G (p.Lys446Glu) n.45A>G c.1180A>G (p.Lys394Glu) | |
| X | g.48689064A>T | CA412873755 | WAS | n.580A>T c.1336A>T (p.Lys446Ter) n.45A>T c.1180A>T (p.Lys394Ter) | |
| X | g.48689065del | CA2695233808 | WAS | n.581del c.1337del (p.Lys446ArgfsTer25) n.46del c.1181del (p.Lys394ArgfsTer25) | |
| X | g.48689065A>C | CA412873756 | WAS | n.581A>C c.1337A>C (p.Lys446Thr) n.46A>C c.1181A>C (p.Lys394Thr) | |
| X | g.48689065A>G | CA412873757 | WAS | n.581A>G c.1337A>G (p.Lys446Arg) n.46A>G c.1181A>G (p.Lys394Arg) | |
| X | g.48689065A>T | CA412873758 | WAS | n.581A>T c.1337A>T (p.Lys446Met) n.46A>T c.1181A>T (p.Lys394Met) | |
| X | g.48689066G>A | CA516356534 | WAS | n.582G>A c.1338G>A (p.Lys446=) n.47G>A c.1182G>A (p.Lys394=) | |
| X | g.48689066G>C | CA412873759 | WAS | n.582G>C c.1338G>C (p.Lys446Asn) n.47G>C c.1182G>C (p.Lys394Asn) | |
| X | g.48689066G>T | CA412873760 | WAS | n.582G>T c.1338G>T (p.Lys446Asn) n.47G>T c.1182G>T (p.Lys394Asn) | |
| X | g.48689067G>A | CA412873761 | WAS | n.582+1G>A c.1338+1G>A (n.1338+1G>A) n.47+1G>A c.1182+1G>A (n.1182+1G>A) | |
| X | g.48689067G>C | CA412873762 | WAS | n.582+1G>C c.1338+1G>C (n.1338+1G>C) n.47+1G>C c.1182+1G>C (n.1182+1G>C) | |
| X | g.48689067G>T | CA412873763 | WAS | n.582+1G>T c.1338+1G>T (n.1338+1G>T) n.47+1G>T c.1182+1G>T (n.1182+1G>T) | |
| X | g.48689068T>A | CA412873766 | WAS | n.582+2T>A c.1338+2T>A (n.1338+2T>A) n.47+2T>A c.1182+2T>A (n.1182+2T>A) | |
| X | g.48689068T>C | CA412873765 | WAS | n.582+2T>C c.1338+2T>C (n.1338+2T>C) n.47+2T>C c.1182+2T>C (n.1182+2T>C) | |
| X | g.48689068T>G | CA412873764 | WAS | n.582+2T>G c.1338+2T>G (n.1338+2T>G) n.47+2T>G c.1182+2T>G (n.1182+2T>G) | |
| X | g.48689069G>T | CA2693645194 | WAS | n.582+3G>T c.1338+3G>T (n.1338+3G>T) n.47+3G>T c.1182+3G>T (n.1182+3G>T) | gnomAD v4 |
| X | g.48689071G>C | CA875917451 | WAS | n.582+5G>C c.1338+5G>C (n.1338+5G>C) n.47+5G>C c.1182+5G>C (n.1182+5G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689071G= | CA2428355815 | WAS | n.582+5G= c.1338+5G= (n.1338+5G=) n.47+5G= c.1182+5G= (n.1182+5G=) | |
| X | g.48689071G>T | CA2693645195 | WAS | n.582+5G>T c.1338+5G>T (n.1338+5G>T) n.47+5G>T c.1182+5G>T (n.1182+5G>T) | gnomAD v4 |
| X | g.48689072G>A | CA2820813348 | WAS | n.582+6G>A c.1338+6G>A (n.1338+6G>A) n.47+6G>A c.1182+6G>A (n.1182+6G>A) | |
| X | g.48689072G>C | CA2693645196 | WAS | n.582+6G>C c.1338+6G>C (n.1338+6G>C) n.47+6G>C c.1182+6G>C (n.1182+6G>C) | gnomAD v4 |
| X | g.48689072G>T | CA2693645197 | WAS | n.582+6G>T c.1338+6G>T (n.1338+6G>T) n.47+6G>T c.1182+6G>T (n.1182+6G>T) | gnomAD v4 |
| X | g.48689074C= | CA2428355816 | WAS | n.582+8C= c.1338+8C= (n.1338+8C=) n.47+8C= c.1182+8C= (n.1182+8C=) | |
| X | g.48689074C>T | CA10404074 | WAS | n.582+8C>T c.1338+8C>T (n.1338+8C>T) n.47+8C>T c.1182+8C>T (n.1182+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689075A= | CA2428355817 | WAS | n.582+9A= c.1338+9A= (n.1338+9A=) n.47+9A= c.1182+9A= (n.1182+9A=) | |
| X | g.48689075A>C | CA329102532 | WAS | n.582+9A>C c.1338+9A>C (n.1338+9A>C) n.47+9A>C c.1182+9A>C (n.1182+9A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689077G>A | CA641901774 | WAS | n.582+11G>A c.1338+11G>A (n.1338+11G>A) n.47+11G>A c.1182+11G>A (n.1182+11G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689077G= | CA2428355818 | WAS | n.582+11G= c.1338+11G= (n.1338+11G=) n.47+11G= c.1182+11G= (n.1182+11G=) | |
| X | g.48689077G>T | CA2693643163 | WAS | n.582+11G>T c.1338+11G>T (n.1338+11G>T) n.47+11G>T c.1182+11G>T (n.1182+11G>T) | gnomAD v4 |
| X | g.48689078C>A | CA2693643165 | WAS | n.582+12C>A c.1338+12C>A (n.1338+12C>A) n.47+12C>A c.1182+12C>A (n.1182+12C>A) | gnomAD v4 |
| X | g.48689078C>G | CA2693643166 | WAS | n.582+12C>G c.1338+12C>G (n.1338+12C>G) n.47+12C>G c.1182+12C>G (n.1182+12C>G) | gnomAD v4 |
| X | g.48689078C>T | CA2693643164 | WAS | n.582+12C>T c.1338+12C>T (n.1338+12C>T) n.47+12C>T c.1182+12C>T (n.1182+12C>T) | gnomAD v4 |
| X | g.48689079A= | CA2428355819 | WAS | n.582+13A= c.1338+13A= (n.1338+13A=) n.47+13A= c.1182+13A= (n.1182+13A=) | |
| X | g.48689079A>G | CA641901775 | WAS | n.582+13A>G c.1338+13A>G (n.1338+13A>G) n.47+13A>G c.1182+13A>G (n.1182+13A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689079A>T | CA10404075 | WAS | n.582+13A>T c.1338+13A>T (n.1338+13A>T) n.47+13A>T c.1182+13A>T (n.1182+13A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689080G= | CA2428355820 | WAS | n.582+14G= c.1338+14G= (n.1338+14G=) n.47+14G= c.1182+14G= (n.1182+14G=) | |
| X | g.48689080G>T | CA641901776 | WAS | n.582+14G>T c.1338+14G>T (n.1338+14G>T) n.47+14G>T c.1182+14G>T (n.1182+14G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689081G>A | CA2693643167 | WAS | n.582+15G>A c.1338+15G>A (n.1338+15G>A) n.47+15G>A c.1182+15G>A (n.1182+15G>A) | gnomAD v4 |
| X | g.48689083T>G | CA2820813349 | WAS | n.582+17T>G c.1338+17T>G (n.1338+17T>G) n.47+17T>G c.1182+17T>G (n.1182+17T>G) | |
| X | g.48689084G>A | CA641901777 | WAS | n.582+18G>A c.1338+18G>A (n.1338+18G>A) n.47+18G>A c.1182+18G>A (n.1182+18G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689084G= | CA2428355821 | WAS | n.582+18G= c.1338+18G= (n.1338+18G=) n.47+18G= c.1182+18G= (n.1182+18G=) | |
| X | g.48689085G>A | CA658179151 | WAS | n.582+19G>A c.1338+19G>A (n.1338+19G>A) n.47+19G>A c.1182+19G>A (n.1182+19G>A) | dbSNP gnomAD v4 COSMIC |
| X | g.48689085G= | CA2428355822 | WAS | n.582+19G= c.1338+19G= (n.1338+19G=) n.47+19G= c.1182+19G= (n.1182+19G=) | |
| X | g.48689085G>T | CA2693643168 | WAS | n.582+19G>T c.1338+19G>T (n.1338+19G>T) n.47+19G>T c.1182+19G>T (n.1182+19G>T) | gnomAD v4 |
| X | g.48689089A= | CA2428355823 | WAS | n.582+23A= c.1338+23A= (n.1338+23A=) n.47+23A= c.1182+23A= (n.1182+23A=) | |
| X | g.48689089A>G | CA10404076 | WAS | n.582+23A>G c.1338+23A>G (n.1338+23A>G) n.47+23A>G c.1182+23A>G (n.1182+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689090T>C | CA10404077 | WAS | n.582+24T>C c.1338+24T>C (n.1338+24T>C) n.47+24T>C c.1182+24T>C (n.1182+24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689090T>G | CA2526905478 | WAS | n.582+24T>G c.1338+24T>G (n.1338+24T>G) n.47+24T>G c.1182+24T>G (n.1182+24T>G) | |
| X | g.48689090T= | CA2428355824 | WAS | n.582+24T= c.1338+24T= (n.1338+24T=) n.47+24T= c.1182+24T= (n.1182+24T=) | |
| X | g.48689091T>C | CA641901778 | WAS | n.582+25T>C c.1338+25T>C (n.1338+25T>C) n.47+25T>C c.1182+25T>C (n.1182+25T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689091T>G | CA875917477 | WAS | n.582+25T>G c.1338+25T>G (n.1338+25T>G) n.47+25T>G c.1182+25T>G (n.1182+25T>G) | dbSNP |
| X | g.48689091T= | CA2428355825 | WAS | n.582+25T= c.1338+25T= (n.1338+25T=) n.47+25T= c.1182+25T= (n.1182+25T=) | |
| X | g.48689093G>A | CA2693643169 | WAS | n.582+27G>A c.1338+27G>A (n.1338+27G>A) n.47+27G>A c.1182+27G>A (n.1182+27G>A) | gnomAD v4 |
| X | g.48689093G>C | CA2693643170 | WAS | n.582+27G>C c.1338+27G>C (n.1338+27G>C) n.47+27G>C c.1182+27G>C (n.1182+27G>C) | gnomAD v4 |
| X | g.48689096G>A | CA1132961134 | WAS | n.582+30G>A c.1338+30G>A (n.1338+30G>A) n.47+30G>A c.1182+30G>A (n.1182+30G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689096G>C | CA2428355827 | WAS | n.582+30G>C c.1338+30G>C (n.1338+30G>C) n.47+30G>C c.1182+30G>C (n.1182+30G>C) | dbSNP gnomAD v4 |
| X | g.48689096G= | CA2428355826 | WAS | n.582+30G= c.1338+30G= (n.1338+30G=) n.47+30G= c.1182+30G= (n.1182+30G=) | |
| X | g.48689097T>A | CA2579600727 | WAS | n.582+31T>A c.1338+31T>A (n.1338+31T>A) n.47+31T>A c.1182+31T>A (n.1182+31T>A) | |
| X | g.48689098C>A | CA641901779 | WAS | n.582+32C>A c.1338+32C>A (n.1338+32C>A) n.47+32C>A c.1182+32C>A (n.1182+32C>A) | dbSNP gnomAD v2 |
| X | g.48689098C= | CA2428355828 | WAS | n.582+32C= c.1338+32C= (n.1338+32C=) n.47+32C= c.1182+32C= (n.1182+32C=) | |
| X | g.48689100A= | CA2428355829 | WAS | n.582+34A= c.1338+34A= (n.1338+34A=) n.47+34A= c.1182+34A= (n.1182+34A=) | |
| X | g.48689100A>G | CA10404078 | WAS | n.582+34A>G c.1338+34A>G (n.1338+34A>G) n.47+34A>G c.1182+34A>G (n.1182+34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689101G>A | CA2693643171 | WAS | n.582+35G>A c.1338+35G>A (n.1338+35G>A) n.47+35G>A c.1182+35G>A (n.1182+35G>A) | gnomAD v4 |
| X | g.48689102G>A | CA2693643172 | WAS | n.582+36G>A c.1338+36G>A (n.1338+36G>A) n.47+36G>A c.1182+36G>A (n.1182+36G>A) | gnomAD v4 |
| X | g.48689102G>T | CA2579600728 | WAS | n.582+36G>T c.1338+36G>T (n.1338+36G>T) n.47+36G>T c.1182+36G>T (n.1182+36G>T) | |
| X | g.48689104C>A | CA2693643173 | WAS | n.582+38C>A c.1338+38C>A (n.1338+38C>A) n.47+38C>A c.1182+38C>A (n.1182+38C>A) | gnomAD v4 |
| X | g.48689104C>T | CA2693643174 | WAS | n.582+38C>T c.1338+38C>T (n.1338+38C>T) n.47+38C>T c.1182+38C>T (n.1182+38C>T) | gnomAD v4 |
| X | g.48689105T>G | CA2738505281 | WAS | n.582+39T>G c.1338+39T>G (n.1338+39T>G) n.47+39T>G c.1182+39T>G (n.1182+39T>G) | dbSNP |
| X | g.48689106C= | CA2428355830 | WAS | n.582+40C= c.1338+40C= (n.1338+40C=) n.47+40C= c.1182+40C= (n.1182+40C=) | |
| X | g.48689106C>T | CA2428355831 | WAS | n.582+40C>T c.1338+40C>T (n.1338+40C>T) n.47+40C>T c.1182+40C>T (n.1182+40C>T) | dbSNP |
| X | g.48689108G>A | CA641511431 | WAS | n.582+42G>A c.1338+42G>A (n.1338+42G>A) n.47+42G>A c.1182+42G>A (n.1182+42G>A) | dbSNP gnomAD v2 |
| X | g.48689108G= | CA2428355832 | WAS | n.582+42G= c.1338+42G= (n.1338+42G=) n.47+42G= c.1182+42G= (n.1182+42G=) | |
| X | g.48689111del | CA2543926074 | WAS | n.582+45del c.1338+45del (n.1338+45del) n.47+45del c.1182+45del (n.1182+45del) |