NM_006118.4(HAX1):c.159T>C (p.Ser53=)
|
rs13796
|
0.09423
|
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.557-6T>C
|
rs776550825
|
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.160C>G (p.Pro54Ala)
|
rs139205111
|
0.00007
|
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.225C>T (p.Phe75=)
|
rs547500941
|
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.12T>C (p.Phe4=)
|
rs1490644075
|
0.00001
|
NM_006118.4(HAX1):c.180A>G (p.Glu60=)
|
rs950658160
|
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.357A>G (p.Leu119=)
|
rs762197407
|
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.459C>T (p.Ser153=)
|
rs1306497969
|
0.00001
|
NM_006118.4(HAX1):c.465A>G (p.Gln155=)
|
rs1684879648
|
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.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.664-10C>T
|
rs369087332
|
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.822T>C (p.Arg274=)
|
rs756399040
|
0.00001
|
NM_006118.4(HAX1):c.837G>A (p.Arg279=)
|
rs780915317
|
0.00001
|
NM_006118.4(HAX1):c.105_107del (p.Glu40del)
|
rs752101273
|
|
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del)
|
rs753894148
|
|
NM_006118.4(HAX1):c.108A>G (p.Glu36=)
|
rs11556342
|
|
NM_006118.4(HAX1):c.123G>C (p.Gly41=)
|
rs1057521590
|
|
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.147A>G (p.Pro49=)
|
|
|
NM_006118.4(HAX1):c.162T>C (p.Pro54=)
|
rs1684862702
|
|
NM_006118.4(HAX1):c.168C>T (p.His56=)
|
rs756371972
|
|
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.174T>A (p.Pro58=)
|
rs757349543
|
|
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.216G>C (p.Gly72=)
|
|
|
NM_006118.4(HAX1):c.21C>T (p.Phe7=)
|
rs2149138533
|
|
NM_006118.4(HAX1):c.231T>C (p.Asp77=)
|
|
|
NM_006118.4(HAX1):c.246T>C (p.Asp82=)
|
rs2149139825
|
|
NM_006118.4(HAX1):c.24G>A (p.Arg8=)
|
|
|
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.30T>C (p.Phe10=)
|
rs2149138547
|
|
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.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.363G>A (p.Glu121=)
|
rs2149139958
|
|
NM_006118.4(HAX1):c.381C>T (p.Asp127=)
|
|
|
NM_006118.4(HAX1):c.396T>C (p.Tyr132=)
|
rs2149139988
|
|
NM_006118.4(HAX1):c.399A>G (p.Pro133=)
|
|
|
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.426G>A (p.Gly142=)
|
rs751652704
|
|
NM_006118.4(HAX1):c.426G>C (p.Gly142=)
|
rs751652704
|
|
NM_006118.4(HAX1):c.42T>G (p.Pro14=)
|
|
|
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys)
|
rs114883767
|
|
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.471A>G (p.Ala157=)
|
rs1572018909
|
|
NM_006118.4(HAX1):c.471A>T (p.Ala157=)
|
rs1572018909
|
|
NM_006118.4(HAX1):c.486C>T (p.Ser162=)
|
rs2149140052
|
|
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+9C>G
|
rs2149140073
|
|
NM_006118.4(HAX1):c.505-13G>T
|
|
|
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.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.54-4T>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.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+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.557-5T>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.567C>T (p.Ser189=)
|
rs2149140587
|
|
NM_006118.4(HAX1):c.582G>A (p.Glu194=)
|
|
|
NM_006118.4(HAX1):c.594G>T (p.Pro198=)
|
|
|
NM_006118.4(HAX1):c.606C>G (p.Pro202=)
|
rs1684905836
|
|
NM_006118.4(HAX1):c.606C>T (p.Pro202=)
|
|
|
NM_006118.4(HAX1):c.612C>A (p.Pro204=)
|
|
|
NM_006118.4(HAX1):c.612C>G (p.Pro204=)
|
rs755648319
|
|
NM_006118.4(HAX1):c.645G>A (p.Lys215=)
|
rs2149140634
|
|
NM_006118.4(HAX1):c.657A>T (p.Pro219=)
|
|
|
NM_006118.4(HAX1):c.663+14_663+17del
|
rs2149140652
|
|
NM_006118.4(HAX1):c.663+20dup
|
|
|
NM_006118.4(HAX1):c.664-13C>T
|
|
|
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.666A>T (p.Ile222=)
|
rs2149140695
|
|
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.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.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.780C>A (p.Ala260=)
|
rs2149140833
|
|
NM_006118.4(HAX1):c.786T>C (p.Asp262=)
|
|
|
NM_006118.4(HAX1):c.78G>A (p.Gly26=)
|
|
|
NM_006118.4(HAX1):c.798C>A (p.Ser266=)
|
|
|
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.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.96T>C (p.Asp32=)
|
rs2149139550
|
|
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
|
|