ClinVar Miner

List of variants studied for Kostmann syndrome

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Minimum conflict level:
ClinVar version:
Total variants: 365
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HGVS dbSNP gnomAD frequency
NM_006118.4(HAX1):c.-58T>G rs11265425 0.23384
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_006118.4(HAX1):c.53+14C>T rs115683875 0.00834
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00035
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 0.00029
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu) rs201078819 0.00021
NM_006118.4(HAX1):c.557-6T>C rs776550825 0.00018
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp) rs138296453 0.00018
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_006118.4(HAX1):c.54-18A>G rs375210100 0.00014
NM_006118.4(HAX1):c.505-14G>C rs200863707 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_006118.4(HAX1):c.*47A>G rs183456651 0.00009
NM_006118.4(HAX1):c.-52G>T rs578086387 0.00009
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
NM_006118.4(HAX1):c.102T>G (p.Asp34Glu) rs141512965 0.00008
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala) rs139205111 0.00007
NM_006118.4(HAX1):c.122G>T (p.Gly41Val) rs369987963 0.00006
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro) rs751426915 0.00006
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp) rs200890522 0.00006
NM_006118.4(HAX1):c.53+11G>A rs372098620 0.00005
NM_006118.4(HAX1):c.676C>T (p.Arg226Cys) rs765780829 0.00005
NM_006118.4(HAX1):c.725G>A (p.Arg242Gln) rs763822514 0.00005
NM_006118.4(HAX1):c.835C>T (p.Arg279Trp) rs780000169 0.00005
NM_006118.4(HAX1):c.221G>A (p.Arg74His) rs151225652 0.00004
NM_006118.4(HAX1):c.339G>C (p.Glu113Asp) rs367673863 0.00004
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp) rs765538745 0.00004
NM_006118.4(HAX1):c.505-16A>G rs551835048 0.00004
NM_006118.4(HAX1):c.525G>A (p.Met175Ile) rs747655324 0.00004
NM_006118.4(HAX1):c.568C>T (p.Gln190Ter) rs74315322 0.00004
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter) rs760377093 0.00004
NM_006118.4(HAX1):c.757C>A (p.Pro253Thr) rs149721308 0.00004
NM_006118.4(HAX1):c.444T>C (p.Asp148=) rs114295590 0.00003
NM_006118.4(HAX1):c.594G>A (p.Pro198=) rs752302439 0.00003
NM_006118.4(HAX1):c.704G>A (p.Arg235Gln) rs139138892 0.00003
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser) rs780614125 0.00002
NM_006118.4(HAX1):c.168C>A (p.His56Gln) rs756371972 0.00002
NM_006118.4(HAX1):c.206C>G (p.Pro69Arg) rs370342620 0.00002
NM_006118.4(HAX1):c.225C>T (p.Phe75=) rs547500941 0.00002
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter) rs121908165 0.00002
NM_006118.4(HAX1):c.317-4G>T rs368305272 0.00002
NM_006118.4(HAX1):c.411G>A (p.Gln137=) rs766622654 0.00002
NM_006118.4(HAX1):c.423T>C (p.Phe141=) rs200778148 0.00002
NM_006118.4(HAX1):c.429G>T (p.Gly143=) rs764127512 0.00002
NM_006118.4(HAX1):c.505-20T>C rs765259799 0.00002
NM_006118.4(HAX1):c.556+13G>A rs771282580 0.00002
NM_006118.4(HAX1):c.729C>T (p.His243=) rs145975391 0.00002
NM_006118.4(HAX1):c.106G>A (p.Glu36Lys) rs754167096 0.00001
NM_006118.4(HAX1):c.12T>C (p.Phe4=) rs1490644075 0.00001
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser) rs762584289 0.00001
NM_006118.4(HAX1):c.180A>G (p.Glu60=) rs950658160 0.00001
NM_006118.4(HAX1):c.193T>G (p.Phe65Val) rs1648509630 0.00001
NM_006118.4(HAX1):c.228C>T (p.His76=) rs1684867511 0.00001
NM_006118.4(HAX1):c.270C>T (p.Ser90=) rs754177724 0.00001
NM_006118.4(HAX1):c.316+19G>A rs747989063 0.00001
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter) rs374758765 0.00001
NM_006118.4(HAX1):c.357A>G (p.Leu119=) rs762197407 0.00001
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp) rs886045320 0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841 0.00001
NM_006118.4(HAX1):c.393G>A (p.Lys131=) rs763126649 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.459C>T (p.Ser153=) rs1306497969 0.00001
NM_006118.4(HAX1):c.461C>T (p.Pro154Leu) rs1389861333 0.00001
NM_006118.4(HAX1):c.465A>G (p.Gln155=) rs1684879648 0.00001
NM_006118.4(HAX1):c.469G>A (p.Ala157Thr) rs745643366 0.00001
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser) rs763746492 0.00001
NM_006118.4(HAX1):c.504+7A>G rs1684881000 0.00001
NM_006118.4(HAX1):c.504+7dup rs1300694878 0.00001
NM_006118.4(HAX1):c.505-9C>T rs779604569 0.00001
NM_006118.4(HAX1):c.53+9A>C rs756747610 0.00001
NM_006118.4(HAX1):c.54-4T>A rs908920404 0.00001
NM_006118.4(HAX1):c.54-6T>C rs556100256 0.00001
NM_006118.4(HAX1):c.549G>A (p.Glu183=) rs535226830 0.00001
NM_006118.4(HAX1):c.557-19C>T rs1050683276 0.00001
NM_006118.4(HAX1):c.571G>A (p.Val191Ile) rs1024291441 0.00001
NM_006118.4(HAX1):c.57C>T (p.His19=) rs941774283 0.00001
NM_006118.4(HAX1):c.636T>C (p.Ser212=) rs146312637 0.00001
NM_006118.4(HAX1):c.660T>C (p.Asp220=) rs746250096 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_006118.4(HAX1):c.664-10C>T rs369087332 0.00001
NM_006118.4(HAX1):c.680G>T (p.Arg227Leu) rs747372275 0.00001
NM_006118.4(HAX1):c.685G>C (p.Val229Leu) rs1465330876 0.00001
NM_006118.4(HAX1):c.700G>A (p.Gly234Ser) rs1287019123 0.00001
NM_006118.4(HAX1):c.736G>C (p.Asp246His) rs375477111 0.00001
NM_006118.4(HAX1):c.755-6C>T rs749368917 0.00001
NM_006118.4(HAX1):c.795T>C (p.Phe265=) rs886038568 0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=) rs762492730 0.00001
NM_006118.4(HAX1):c.809T>C (p.Leu270Ser) rs759963419 0.00001
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu) rs375704974 0.00001
NM_006118.4(HAX1):c.822T>C (p.Arg274=) rs756399040 0.00001
NM_006118.4(HAX1):c.836G>A (p.Arg279Gln) rs746872949 0.00001
NM_006118.4(HAX1):c.837G>A (p.Arg279=) rs780915317 0.00001
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
NC_000001.10:g.(?_149895434)_(156851434_?)dup
NC_000001.10:g.(?_153963273)_(154580482_?)del
NC_000001.10:g.(?_154246017)_(154247306_?)del
NC_000001.11:g.(?_154274930)_(154275721_?)del
NM_006118.3(HAX1):c.-150A>T rs544123058
NM_006118.4(HAX1):c.*1C>G rs747961567
NM_006118.4(HAX1):c.*80C>T rs912619566
NM_006118.4(HAX1):c.103_106del (p.Glu35fs)
NM_006118.4(HAX1):c.105_107del (p.Glu40del) rs752101273
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup) rs755700193
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del) rs753894148
NM_006118.4(HAX1):c.107AAG[6] (p.Glu40_Gly41insGlu)
NM_006118.4(HAX1):c.107AAG[7] (p.Glu40_Gly41insGluGlu)
NM_006118.4(HAX1):c.108A>G (p.Glu36=) rs11556342
NM_006118.4(HAX1):c.109G>C (p.Glu37Gln)
NM_006118.4(HAX1):c.110A>C (p.Glu37Ala) rs1220347048
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)
NM_006118.4(HAX1):c.123G>C (p.Gly41=) rs1057521590
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp) rs1001600867
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.129A>C (p.Ser43=)
NM_006118.4(HAX1):c.129A>G (p.Ser43=)
NM_006118.4(HAX1):c.129A>T (p.Ser43=)
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006118.4(HAX1):c.135_137del (p.Arg46del) rs746771318
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro) rs761500862
NM_006118.4(HAX1):c.146del (p.Pro49fs) rs2149139668
NM_006118.4(HAX1):c.147A>G (p.Pro49=)
NM_006118.4(HAX1):c.14A>C (p.Asp5Ala) rs747374340
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)
NM_006118.4(HAX1):c.157A>G (p.Ser53Gly)
NM_006118.4(HAX1):c.159T>A (p.Ser53Arg)
NM_006118.4(HAX1):c.162T>C (p.Pro54=) rs1684862702
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)
NM_006118.4(HAX1):c.166del (p.His56fs) rs2149139706
NM_006118.4(HAX1):c.168C>T (p.His56=) rs756371972
NM_006118.4(HAX1):c.16del (p.Leu6fs)
NM_006118.4(HAX1):c.171C>A (p.Pro57=)
NM_006118.4(HAX1):c.171C>G (p.Pro57=)
NM_006118.4(HAX1):c.171C>T (p.Pro57=)
NM_006118.4(HAX1):c.172C>T (p.Pro58Ser) rs1260994720
NM_006118.4(HAX1):c.173del (p.Pro58fs)
NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer) rs758657008
NM_006118.4(HAX1):c.174T>A (p.Pro58=) rs757349543
NM_006118.4(HAX1):c.182T>C (p.Phe61Ser) rs146452018
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys) rs146452018
NM_006118.4(HAX1):c.184GGCTTC[3] (p.Phe65_Ser66insGlyPhe)
NM_006118.4(HAX1):c.189C>T (p.Phe63=)
NM_006118.4(HAX1):c.18C>G (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.18C>T (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.191G>A (p.Gly64Asp) rs1684865731
NM_006118.4(HAX1):c.207AGG[2] (p.Gly72del) rs1558251515
NM_006118.4(HAX1):c.214_217dup (p.Ile73fs) rs2149139793
NM_006118.4(HAX1):c.216G>C (p.Gly72=)
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)
NM_006118.4(HAX1):c.21C>T (p.Phe7=) rs2149138533
NM_006118.4(HAX1):c.229G>A (p.Asp77Asn)
NM_006118.4(HAX1):c.231T>C (p.Asp77=)
NM_006118.4(HAX1):c.235_236del (p.Phe79fs) rs2149139817
NM_006118.4(HAX1):c.246T>C (p.Asp82=) rs2149139825
NM_006118.4(HAX1):c.24G>A (p.Arg8=)
NM_006118.4(HAX1):c.256C>G (p.Arg86Gly)
NM_006118.4(HAX1):c.257G>A (p.Arg86Gln)
NM_006118.4(HAX1):c.276C>T (p.Phe92=) rs1394401898
NM_006118.4(HAX1):c.279C>T (p.Ser93=) rs1684868690
NM_006118.4(HAX1):c.27C>T (p.Gly9=)
NM_006118.4(HAX1):c.288G>A (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.288G>C (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser) rs1684869052
NM_006118.4(HAX1):c.30T>C (p.Phe10=) rs2149138547
NM_006118.4(HAX1):c.314del (p.Pro105fs)
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)
NM_006118.4(HAX1):c.316+10T>G rs2149139872
NM_006118.4(HAX1):c.316+12dup rs1278748171
NM_006118.4(HAX1):c.316+17A>G
NM_006118.4(HAX1):c.316+17_316+28del rs1484850337
NM_006118.4(HAX1):c.316+4T>G
NM_006118.4(HAX1):c.317-17C>G
NM_006118.4(HAX1):c.317-17C>T
NM_006118.4(HAX1):c.317-19A>C
NM_006118.4(HAX1):c.317-19A>G
NM_006118.4(HAX1):c.317-9T>A rs1684873624
NM_006118.4(HAX1):c.317A>C (p.Glu106Ala)
NM_006118.4(HAX1):c.322C>T (p.Pro108Ser)
NM_006118.4(HAX1):c.32T>C (p.Phe11Ser)
NM_006118.4(HAX1):c.349G>T (p.Glu117Ter) rs1487742962
NM_006118.4(HAX1):c.363G>A (p.Glu121=) rs2149139958
NM_006118.4(HAX1):c.365G>A (p.Gly122Glu)
NM_006118.4(HAX1):c.368_381del (p.Gln123fs) rs1425877227
NM_006118.4(HAX1):c.371C>A (p.Thr124Lys) rs1684875501
NM_006118.4(HAX1):c.372_373insGATA (p.Leu125fs) rs2149139969
NM_006118.4(HAX1):c.376_434del (p.Arg126fs)
NM_006118.4(HAX1):c.377G>A (p.Arg126Gln) rs147036748
NM_006118.4(HAX1):c.381C>T (p.Asp127=)
NM_006118.4(HAX1):c.382T>G (p.Ser128Ala)
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter) rs1398108109
NM_006118.4(HAX1):c.385A>T (p.Met129Leu)
NM_006118.4(HAX1):c.396T>C (p.Tyr132=) rs2149139988
NM_006118.4(HAX1):c.399A>G (p.Pro133=)
NM_006118.4(HAX1):c.413C>A (p.Pro138His)
NM_006118.4(HAX1):c.414C>T (p.Pro138=) rs1572018842
NM_006118.4(HAX1):c.420C>A (p.Ile140=) rs2149139999
NM_006118.4(HAX1):c.424G>A (p.Gly142Arg)
NM_006118.4(HAX1):c.425G>T (p.Gly142Val)
NM_006118.4(HAX1):c.426G>A (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.426G>C (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.427G>A (p.Gly143Arg) rs1001874105
NM_006118.4(HAX1):c.42T>G (p.Pro14=)
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.432del (p.Leu145fs)
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys) rs114883767
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)
NM_006118.4(HAX1):c.450A>C (p.Arg150Ser) rs1684878785
NM_006118.4(HAX1):c.453T>C (p.Ser151=)
NM_006118.4(HAX1):c.456A>G (p.Glu152=) rs2149140027
NM_006118.4(HAX1):c.459C>A (p.Ser153=)
NM_006118.4(HAX1):c.462C>A (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.462C>G (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006118.4(HAX1):c.471A>G (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.471A>T (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.47C>T (p.Pro16Leu) rs1310502848
NM_006118.4(HAX1):c.480G>A (p.Trp160Ter) rs1392118289
NM_006118.4(HAX1):c.480G>C (p.Trp160Cys) rs1392118289
NM_006118.4(HAX1):c.486C>T (p.Ser162=) rs2149140052
NM_006118.4(HAX1):c.487C>T (p.Gln163Ter) rs2149140056
NM_006118.4(HAX1):c.495A>G (p.Pro165=)
NM_006118.4(HAX1):c.501T>C (p.His167=) rs2149140060
NM_006118.4(HAX1):c.504+10C>A
NM_006118.4(HAX1):c.504+10C>T
NM_006118.4(HAX1):c.504+12A>C
NM_006118.4(HAX1):c.504+12A>G
NM_006118.4(HAX1):c.504+12A>T
NM_006118.4(HAX1):c.504+19C>T
NM_006118.4(HAX1):c.504+1G>A rs2149140065
NM_006118.4(HAX1):c.504+9C>G rs2149140073
NM_006118.4(HAX1):c.505-13G>T
NM_006118.4(HAX1):c.505-1G>C
NM_006118.4(HAX1):c.507T>C (p.Phe169=)
NM_006118.4(HAX1):c.513T>C (p.Asp171=)
NM_006118.4(HAX1):c.516A>G (p.Val172=) rs1684900369
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)
NM_006118.4(HAX1):c.521C>A (p.Pro174His) rs1257711613
NM_006118.4(HAX1):c.521C>G (p.Pro174Arg) rs1257711613
NM_006118.4(HAX1):c.528C>T (p.Asp176=)
NM_006118.4(HAX1):c.53+13C>T rs759011018
NM_006118.4(HAX1):c.53+16G>A
NM_006118.4(HAX1):c.53+19C>T
NM_006118.4(HAX1):c.53+3GA[3]
NM_006118.4(HAX1):c.53+6_53+7insT
NM_006118.4(HAX1):c.53+7G>A rs2149138580
NM_006118.4(HAX1):c.531C>A (p.Pro177=)
NM_006118.4(HAX1):c.54-12C>T
NM_006118.4(HAX1):c.54-14G>A
NM_006118.4(HAX1):c.54-15T>G
NM_006118.4(HAX1):c.54-20C>G
NM_006118.4(HAX1):c.54-2A>T rs764765550
NM_006118.4(HAX1):c.54-4T>G rs908920404
NM_006118.4(HAX1):c.54-5C>T rs1357333154
NM_006118.4(HAX1):c.54-8A>G rs2149139463
NM_006118.4(HAX1):c.54-9del rs2149139460
NM_006118.4(HAX1):c.543C>A (p.Thr181=)
NM_006118.4(HAX1):c.552C>T (p.Asp184=) rs2149140492
NM_006118.4(HAX1):c.556+11A>G
NM_006118.4(HAX1):c.556+15A>C
NM_006118.4(HAX1):c.556+15A>G
NM_006118.4(HAX1):c.556+17G>T rs2149140505
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.556+1G>C rs1684901295
NM_006118.4(HAX1):c.556+1del rs2149140495
NM_006118.4(HAX1):c.556+5G>A
NM_006118.4(HAX1):c.556+9G>A
NM_006118.4(HAX1):c.557-11T>C
NM_006118.4(HAX1):c.557-12C>G rs1553289863
NM_006118.4(HAX1):c.557-16C>T
NM_006118.4(HAX1):c.557-18A>G
NM_006118.4(HAX1):c.557-1G>A
NM_006118.4(HAX1):c.557-1G>C rs1684904805
NM_006118.4(HAX1):c.557-5T>C
NM_006118.4(HAX1):c.557-7C>T
NM_006118.4(HAX1):c.557-8T>C rs1684904629
NM_006118.4(HAX1):c.557-9C>A rs1684904587
NM_006118.4(HAX1):c.560T>C (p.Leu187Pro)
NM_006118.4(HAX1):c.565T>C (p.Ser189Pro)
NM_006118.4(HAX1):c.567C>T (p.Ser189=) rs2149140587
NM_006118.4(HAX1):c.582G>A (p.Glu194=)
NM_006118.4(HAX1):c.583G>A (p.Gly195Ser)
NM_006118.4(HAX1):c.58dup (p.Arg20fs) rs2149139493
NM_006118.4(HAX1):c.594G>T (p.Pro198=)
NM_006118.4(HAX1):c.599T>A (p.Leu200Gln) rs2149140605
NM_006118.4(HAX1):c.605C>T (p.Pro202Leu)
NM_006118.4(HAX1):c.606C>G (p.Pro202=) rs1684905836
NM_006118.4(HAX1):c.606C>T (p.Pro202=)
NM_006118.4(HAX1):c.60_61delinsTC (p.Arg20_Asp21delinsSerHis) rs2149139500
NM_006118.4(HAX1):c.612C>A (p.Pro204=)
NM_006118.4(HAX1):c.612C>G (p.Pro204=) rs755648319
NM_006118.4(HAX1):c.614A>G (p.Lys205Arg)
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp) rs1684906279
NM_006118.4(HAX1):c.622T>A (p.Phe208Ile)
NM_006118.4(HAX1):c.645G>A (p.Lys215=) rs2149140634
NM_006118.4(HAX1):c.657A>T (p.Pro219=)
NM_006118.4(HAX1):c.658G>C (p.Asp220His)
NM_006118.4(HAX1):c.659A>T (p.Asp220Val) rs1684907371
NM_006118.4(HAX1):c.663+14_663+17del rs2149140652
NM_006118.4(HAX1):c.663+20dup
NM_006118.4(HAX1):c.663+5G>C
NM_006118.4(HAX1):c.664-13C>T
NM_006118.4(HAX1):c.664-1G>T rs2149140690
NM_006118.4(HAX1):c.664-4G>A
NM_006118.4(HAX1):c.664-5T>G
NM_006118.4(HAX1):c.664-6T>C rs2149140688
NM_006118.4(HAX1):c.664-8C>G
NM_006118.4(HAX1):c.664-8C>T
NM_006118.4(HAX1):c.665T>C (p.Ile222Thr) rs753448581
NM_006118.4(HAX1):c.666A>T (p.Ile222=) rs2149140695
NM_006118.4(HAX1):c.677G>A (p.Arg226His) rs750920845
NM_006118.4(HAX1):c.678C>T (p.Arg226=) rs1684911540
NM_006118.4(HAX1):c.679C>A (p.Arg227=)
NM_006118.4(HAX1):c.684T>C (p.Thr228=)
NM_006118.4(HAX1):c.684T>G (p.Thr228=) rs2149140709
NM_006118.4(HAX1):c.690G>A (p.Val230=)
NM_006118.4(HAX1):c.699G>A (p.Glu233=) rs1398388092
NM_006118.4(HAX1):c.702C>A (p.Gly234=)
NM_006118.4(HAX1):c.702C>T (p.Gly234=) rs2149140719
NM_006118.4(HAX1):c.703C>T (p.Arg235Trp)
NM_006118.4(HAX1):c.705G>A (p.Arg235=)
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_006118.4(HAX1):c.717A>G (p.Thr239=) rs911542597
NM_006118.4(HAX1):c.741C>T (p.Ser247=)
NM_006118.4(HAX1):c.744T>C (p.Ser248=)
NM_006118.4(HAX1):c.752G>T (p.Gly251Val)
NM_006118.4(HAX1):c.754+12G>A rs2149140759
NM_006118.4(HAX1):c.754+16A>G rs370265383
NM_006118.4(HAX1):c.754+16_754+17del
NM_006118.4(HAX1):c.754+17A>G rs2149140768
NM_006118.4(HAX1):c.754+18G>T
NM_006118.4(HAX1):c.754+19G>C
NM_006118.4(HAX1):c.754+8A>C rs766977977
NM_006118.4(HAX1):c.755-12T>A rs2149140818
NM_006118.4(HAX1):c.755-13C>T
NM_006118.4(HAX1):c.755-17A>G
NM_006118.4(HAX1):c.755-19G>A rs367977880
NM_006118.4(HAX1):c.755-19G>T
NM_006118.4(HAX1):c.755-5C>G
NM_006118.4(HAX1):c.755-5C>T rs2149140820
NM_006118.4(HAX1):c.768A>C (p.Pro256=) rs761421364
NM_006118.4(HAX1):c.768A>G (p.Pro256=) rs761421364
NM_006118.4(HAX1):c.779C>T (p.Ala260Val)
NM_006118.4(HAX1):c.780C>A (p.Ala260=) rs2149140833
NM_006118.4(HAX1):c.781C>G (p.Leu261Val) rs2149140834
NM_006118.4(HAX1):c.786T>C (p.Asp262=)
NM_006118.4(HAX1):c.78G>A (p.Gly26=)
NM_006118.4(HAX1):c.797C>T (p.Ser266Phe) rs1684917433
NM_006118.4(HAX1):c.798C>A (p.Ser266=)
NM_006118.4(HAX1):c.800del (p.Ile267fs)
NM_006118.4(HAX1):c.802C>T (p.Leu268=) rs2149140852
NM_006118.4(HAX1):c.814C>T (p.Leu272=)
NM_006118.4(HAX1):c.819A>G (p.Gly273=)
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys) rs753078666
NM_006118.4(HAX1):c.822T>G (p.Arg274=)
NM_006118.4(HAX1):c.831G>A (p.Arg277=)
NM_006118.4(HAX1):c.84T>C (p.Thr28=)
NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)
NM_006118.4(HAX1):c.93_95del (p.Glu31del) rs773579418
NM_006118.4(HAX1):c.96T>C (p.Asp32=) rs2149139550
NM_006118.4(HAX1):c.96TGA[2] (p.Asp34del) rs560912060
NM_006118.4(HAX1):c.99T>C (p.Asp33=)
NM_006118.4(HAX1):c.9C>G (p.Leu3=) rs2149138508
NM_006118.4(HAX1):c.9C>T (p.Leu3=) rs2149138508

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