SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48689001_48689046del | CA2580101069 | WAS | n.517_562del c.1273_1318del (p.Leu425ArgfsTer5) c.1117_1162del (p.Leu373ArgfsTer5) | ClinVar |
| 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) | |
| X | g.48689111G>A | CA641511432 | WAS | n.582+45G>A c.1338+45G>A (n.1338+45G>A) n.47+45G>A c.1182+45G>A (n.1182+45G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689111G= | CA2428355833 | WAS | n.582+45G= c.1338+45G= (n.1338+45G=) n.47+45G= c.1182+45G= (n.1182+45G=) | |
| X | g.48689112T>G | CA10404079 | WAS | n.582+46T>G c.1338+46T>G (n.1338+46T>G) n.47+46T>G c.1182+46T>G (n.1182+46T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689112T= | CA2428355834 | WAS | n.582+46T= c.1338+46T= (n.1338+46T=) n.47+46T= c.1182+46T= (n.1182+46T=) | |
| X | g.48689113G>A | CA2579600729 | WAS | n.582+47G>A c.1338+47G>A (n.1338+47G>A) n.47+47G>A c.1182+47G>A (n.1182+47G>A) | |
| X | g.48689114del | CA2693643175 | WAS | n.582+48del c.1338+48del (n.1338+48del) n.47+48del c.1182+48del (n.1182+48del) | gnomAD v4 |
| X | g.48689114T>C | CA2693643176 | WAS | n.582+48T>C c.1338+48T>C (n.1338+48T>C) n.47+48T>C c.1182+48T>C (n.1182+48T>C) | gnomAD v4 |
| X | g.48689115C>A | CA2693643177 | WAS | n.582+49C>A c.1338+49C>A (n.1338+49C>A) n.47+49C>A c.1182+49C>A (n.1182+49C>A) | gnomAD v4 |
| X | g.48689115C= | CA2428355835 | WAS | n.582+49C= c.1338+49C= (n.1338+49C=) n.47+49C= c.1182+49C= (n.1182+49C=) | |
| X | g.48689115C>T | CA2428355836 | WAS | n.582+49C>T c.1338+49C>T (n.1338+49C>T) n.47+49C>T c.1182+49C>T (n.1182+49C>T) | dbSNP |
| X | g.48689117del | CA2579600730 | WAS | n.582+51del c.1338+51del (n.1338+51del) n.47+51del c.1182+51del (n.1182+51del) | |
| X | g.48689116C>A | CA2579600731 | WAS | n.582+50C>A c.1338+50C>A (n.1338+50C>A) n.47+50C>A c.1182+50C>A (n.1182+50C>A) | |
| X | g.48689116C>T | CA2693643178 | WAS | n.582+50C>T c.1338+50C>T (n.1338+50C>T) n.47+50C>T c.1182+50C>T (n.1182+50C>T) | dbSNP gnomAD v4 |
| X | g.48689117C>A | CA641511435 | WAS | n.582+51C>A c.1338+51C>A (n.1338+51C>A) n.47+51C>A c.1182+51C>A (n.1182+51C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689117C= | CA2428355837 | WAS | n.582+51C= c.1338+51C= (n.1338+51C=) n.47+51C= c.1182+51C= (n.1182+51C=) | |
| X | g.48689117C>T | CA10404080 | WAS | n.582+51C>T c.1338+51C>T (n.1338+51C>T) n.47+51C>T c.1182+51C>T (n.1182+51C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689118G>A | CA10404081 | WAS | n.582+52G>A c.1338+52G>A (n.1338+52G>A) n.47+52G>A c.1182+52G>A (n.1182+52G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689118G= | CA2428355838 | WAS | n.582+52G= c.1338+52G= (n.1338+52G=) n.47+52G= c.1182+52G= (n.1182+52G=) | |
| X | g.48689119T>A | CA2693643185 | WAS | n.582+53T>A c.1338+53T>A (n.1338+53T>A) n.47+53T>A c.1182+53T>A (n.1182+53T>A) | gnomAD v4 |
| X | g.48689119T>C | CA2693643186 | WAS | n.582+53T>C c.1338+53T>C (n.1338+53T>C) n.47+53T>C c.1182+53T>C (n.1182+53T>C) | gnomAD v4 |
| X | g.48689120C>A | CA2693643187 | WAS | n.582+54C>A c.1338+54C>A (n.1338+54C>A) n.47+54C>A c.1182+54C>A (n.1182+54C>A) | gnomAD v4 |
| X | g.48689122A>T | CA2693643188 | WAS | n.582+56A>T c.1338+56A>T (n.1338+56A>T) n.47+56A>T c.1182+56A>T (n.1182+56A>T) | gnomAD v4 |
| X | g.48689123A= | CA2428355839 | WAS | n.582+57A= c.1338+57A= (n.1338+57A=) n.47+57A= c.1182+57A= (n.1182+57A=) | |
| X | g.48689123A>G | CA2428355840 | WAS | n.582+57A>G c.1338+57A>G (n.1338+57A>G) n.47+57A>G c.1182+57A>G (n.1182+57A>G) | dbSNP gnomAD v4 |
| X | g.48689124G>A | CA2428355842 | WAS | n.582+58G>A c.1338+58G>A (n.1338+58G>A) n.47+58G>A c.1182+58G>A (n.1182+58G>A) | dbSNP gnomAD v4 |
| X | g.48689124G= | CA2428355841 | WAS | n.582+58G= c.1338+58G= (n.1338+58G=) n.47+58G= c.1182+58G= (n.1182+58G=) | |
| X | g.48689124G>T | CA2693643190 | WAS | n.582+58G>T c.1338+58G>T (n.1338+58G>T) n.47+58G>T c.1182+58G>T (n.1182+58G>T) | gnomAD v4 |
| X | g.48689126C>A | CA2579600732 | WAS | n.582+60C>A c.1338+60C>A (n.1338+60C>A) n.47+60C>A c.1182+60C>A (n.1182+60C>A) | |
| X | g.48689126C= | CA2428355843 | WAS | n.582+60C= c.1338+60C= (n.1338+60C=) n.47+60C= c.1182+60C= (n.1182+60C=) | |
| X | g.48689126C>G | CA2428355844 | WAS | n.582+60C>G c.1338+60C>G (n.1338+60C>G) n.47+60C>G c.1182+60C>G (n.1182+60C>G) | dbSNP |
| X | g.48689127A>G | CA2579600733 | WAS | n.582+61A>G c.1338+61A>G (n.1338+61A>G) n.47+61A>G c.1182+61A>G (n.1182+61A>G) | |
| X | g.48689128G>T | CA2693643193 | WAS | n.582+62G>T c.1338+62G>T (n.1338+62G>T) n.47+62G>T c.1182+62G>T (n.1182+62G>T) | gnomAD v4 |
| X | g.48689130A>G | CA2579600734 | WAS | n.582+64A>G c.1338+64A>G (n.1338+64A>G) n.47+64A>G c.1182+64A>G (n.1182+64A>G) | |
| X | g.48689131T>C | CA875917483 | WAS | n.582+65T>C c.1338+65T>C (n.1338+65T>C) n.47+65T>C c.1182+65T>C (n.1182+65T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689131T= | CA2428355845 | WAS | n.582+65T= c.1338+65T= (n.1338+65T=) n.47+65T= c.1182+65T= (n.1182+65T=) | |
| X | g.48689133C>A | CA2579600735 | WAS | n.582+67C>A c.1338+67C>A (n.1338+67C>A) n.47+67C>A c.1182+67C>A (n.1182+67C>A) | gnomAD v4 |
| X | g.48689133C= | CA2428355846 | WAS | n.582+67C= c.1338+67C= (n.1338+67C=) n.47+67C= c.1182+67C= (n.1182+67C=) | |
| X | g.48689133C>T | CA2428355847 | WAS | n.582+67C>T c.1338+67C>T (n.1338+67C>T) n.47+67C>T c.1182+67C>T (n.1182+67C>T) | dbSNP |
| X | g.48689134_48689135delinsTG | CA2428355848 | WAS | n.582+68_582+69delinsTG c.1338+68_1338+69delinsTG (n.1338+68_1338+69delinsTG) n.47+68_47+69delinsTG c.1182+68_1182+69delinsTG (n.1182+68_1182+69delinsTG) | |
| X | g.48689135G>A | CA2693643195 | WAS | n.582+69G>A c.1338+69G>A (n.1338+69G>A) n.47+69G>A c.1182+69G>A (n.1182+69G>A) | gnomAD v4 |
| X | g.48689135G>C | CA2693643197 | WAS | n.582+69G>C c.1338+69G>C (n.1338+69G>C) n.47+69G>C c.1182+69G>C (n.1182+69G>C) | gnomAD v4 |
| X | g.48689135G>T | CA2693643198 | WAS | n.582+69G>T c.1338+69G>T (n.1338+69G>T) n.47+69G>T c.1182+69G>T (n.1182+69G>T) | gnomAD v4 |
| X | g.48689140dup | CA2693643194 | WAS | n.582+74dup c.1338+74dup (n.1338+74dup) n.47+74dup c.1182+74dup (n.1182+74dup) | gnomAD v4 |
| X | g.48689140del | CA2428355849 | WAS | n.582+74del c.1338+74del (n.1338+74del) n.47+74del c.1182+74del (n.1182+74del) | dbSNP gnomAD v4 |