NM_000133.4(F9):c.580A>G (p.Thr194Ala)
|
rs6048
|
0.22614
|
NM_000133.4(F9):c.391+7A>G
|
rs6049
|
0.03872
|
NM_000133.4(F9):c.278-27A>G
|
rs3134809
|
0.01152
|
NM_000133.4(F9):c.1095A>G (p.Ser365=)
|
rs112057482
|
0.01021
|
NM_000133.4(F9):c.1110G>A (p.Gln370=)
|
rs34698779
|
0.00833
|
NM_000133.4(F9):c.967G>A (p.Glu323Lys)
|
rs150351950
|
0.00294
|
NM_000133.4(F9):c.1381A>C (p.Thr461Pro)
|
rs4149751
|
0.00129
|
NM_000133.4(F9):c.391+10T>G
|
rs375734226
|
0.00116
|
NM_000133.4(F9):c.696T>C (p.Asp232=)
|
rs140835723
|
0.00113
|
NM_000133.4(F9):c.819T>C (p.Val273=)
|
rs1800455
|
0.00110
|
NM_000133.4(F9):c.1257G>T (p.Val419=)
|
rs61731481
|
0.00100
|
NM_000133.4(F9):c.19A>T (p.Ile7Phe)
|
rs150190385
|
0.00086
|
NM_000133.4(F9):c.907C>T (p.His303Tyr)
|
rs1801202
|
0.00044
|
NM_000133.4(F9):c.8G>A (p.Arg3His)
|
rs148060786
|
0.00042
|
NM_000133.4(F9):c.1029C>T (p.Asn343=)
|
rs145026483
|
0.00017
|
NM_000133.4(F9):c.250A>G (p.Thr84Ala)
|
rs201120367
|
0.00013
|
NM_000133.4(F9):c.768C>T (p.Ile256=)
|
rs758909063
|
0.00012
|
NM_000133.4(F9):c.1143A>G (p.Thr381=)
|
rs761784613
|
0.00011
|
NM_000133.4(F9):c.114C>T (p.Asn38=)
|
rs745353370
|
0.00011
|
NM_000133.4(F9):c.51C>T (p.Ile17=)
|
rs774612303
|
0.00011
|
NM_000133.4(F9):c.769G>A (p.Val257Ile)
|
rs200608775
|
0.00010
|
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
|
rs757996262
|
0.00009
|
NM_000133.4(F9):c.1346G>A (p.Arg449Gln)
|
rs143018900
|
0.00007
|
NM_000133.4(F9):c.679G>A (p.Val227Ile)
|
rs137852242
|
0.00007
|
NM_000133.4(F9):c.1048T>G (p.Ser350Ala)
|
rs147567879
|
0.00005
|
NM_000133.4(F9):c.315C>T (p.Gly105=)
|
rs757434127
|
0.00005
|
NM_000133.4(F9):c.523C>T (p.Pro175Ser)
|
rs762986355
|
0.00005
|
NM_000133.4(F9):c.991G>A (p.Val331Ile)
|
rs776509489
|
0.00005
|
NM_000133.4(F9):c.108C>T (p.Asn36=)
|
rs184837275
|
0.00004
|
NM_000133.4(F9):c.316G>A (p.Gly106Ser)
|
rs137852233
|
0.00004
|
NM_000133.4(F9):c.423C>T (p.Cys141=)
|
rs150041781
|
0.00004
|
NM_000133.4(F9):c.483T>C (p.Tyr161=)
|
rs1047289457
|
0.00004
|
NM_000133.4(F9):c.513A>G (p.Glu171=)
|
rs45473300
|
0.00004
|
NM_000133.4(F9):c.582T>G (p.Thr194=)
|
rs754155651
|
0.00004
|
NM_000133.4(F9):c.658T>A (p.Ser220Thr)
|
rs777361659
|
0.00004
|
NM_000133.4(F9):c.730T>C (p.Leu244=)
|
rs765470577
|
0.00004
|
NM_000133.4(F9):c.834C>T (p.Val278=)
|
rs199844858
|
0.00004
|
NM_000133.4(F9):c.1218A>G (p.Ser406=)
|
rs916632342
|
0.00003
|
NM_000133.4(F9):c.333C>T (p.Asp111=)
|
rs139289585
|
0.00003
|
NM_000133.4(F9):c.391+4A>G
|
rs749754992
|
0.00003
|
NM_000133.4(F9):c.712T>G (p.Phe238Val)
|
rs143128467
|
0.00003
|
NM_000133.4(F9):c.966C>T (p.Asp322=)
|
rs373107855
|
0.00003
|
NM_000133.4(F9):c.1254A>G (p.Glu418=)
|
rs769888700
|
0.00002
|
NM_000133.4(F9):c.1284T>C (p.Ile428=)
|
rs1300185736
|
0.00002
|
NM_000133.4(F9):c.130C>T (p.Pro44Ser)
|
rs776894974
|
0.00002
|
NM_000133.4(F9):c.163T>A (p.Phe55Ile)
|
rs759987427
|
0.00002
|
NM_000133.4(F9):c.301C>G (p.Pro101Ala)
|
rs137852232
|
0.00002
|
NM_000133.4(F9):c.456G>A (p.Lys152=)
|
rs780347965
|
0.00002
|
NM_000133.4(F9):c.465C>T (p.Cys155=)
|
rs375658633
|
0.00002
|
NM_000133.4(F9):c.48C>A (p.Thr16=)
|
rs768833956
|
0.00002
|
NM_000133.4(F9):c.54C>T (p.Cys18=)
|
rs1337284408
|
0.00002
|
NM_000133.4(F9):c.724-4A>G
|
rs755261990
|
0.00002
|
NM_000133.4(F9):c.774T>C (p.Asn258=)
|
rs752173947
|
0.00002
|
NM_000133.4(F9):c.844C>T (p.His282Tyr)
|
rs763399530
|
0.00002
|
NM_000133.4(F9):c.-35G>A
|
rs1166164399
|
0.00001
|
NM_000133.4(F9):c.1026G>A (p.Thr342=)
|
rs954954812
|
0.00001
|
NM_000133.4(F9):c.106A>G (p.Asn36Asp)
|
rs1169714103
|
0.00001
|
NM_000133.4(F9):c.1074A>G (p.Arg358=)
|
rs751992311
|
0.00001
|
NM_000133.4(F9):c.109G>A (p.Ala37Thr)
|
rs367569299
|
0.00001
|
NM_000133.4(F9):c.1134C>T (p.Asp378=)
|
rs1485359328
|
0.00001
|
NM_000133.4(F9):c.1150C>T (p.Arg384Ter)
|
rs137852261
|
0.00001
|
NM_000133.4(F9):c.116A>G (p.Lys39Arg)
|
rs200505648
|
0.00001
|
NM_000133.4(F9):c.1170C>T (p.Ile390=)
|
rs1436679699
|
0.00001
|
NM_000133.4(F9):c.1191T>C (p.Ala397=)
|
rs777757344
|
0.00001
|
NM_000133.4(F9):c.1209T>C (p.Gly403=)
|
rs900302000
|
0.00001
|
NM_000133.4(F9):c.122T>G (p.Leu41Arg)
|
rs371373268
|
0.00001
|
NM_000133.4(F9):c.1269T>C (p.Ser423=)
|
rs774786079
|
0.00001
|
NM_000133.4(F9):c.1365G>A (p.Lys455=)
|
rs1928133934
|
0.00001
|
NM_000133.4(F9):c.149G>C (p.Gly50Ala)
|
rs1229048705
|
0.00001
|
NM_000133.4(F9):c.154T>C (p.Leu52=)
|
rs1470729875
|
0.00001
|
NM_000133.4(F9):c.192T>C (p.Cys64=)
|
rs1261374056
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000133.4(F9):c.273T>C (p.Tyr91=)
|
rs142980421
|
0.00001
|
NM_000133.4(F9):c.354G>A (p.Trp118Ter)
|
rs1234002716
|
0.00001
|
NM_000133.4(F9):c.384T>C (p.Cys128=)
|
rs780435919
|
0.00001
|
NM_000133.4(F9):c.392-10C>T
|
rs1027316695
|
0.00001
|
NM_000133.4(F9):c.392-7C>A
|
rs757272947
|
0.00001
|
NM_000133.4(F9):c.399A>G (p.Thr133=)
|
rs1296392687
|
0.00001
|
NM_000133.4(F9):c.516A>T (p.Pro172=)
|
rs1462862045
|
0.00001
|
NM_000133.4(F9):c.520+9C>A
|
rs1453342028
|
0.00001
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
NM_000133.4(F9):c.572G>A (p.Arg191His)
|
rs137852238
|
0.00001
|
NM_000133.4(F9):c.60A>G (p.Leu20=)
|
rs762082146
|
0.00001
|
NM_000133.4(F9):c.714C>T (p.Phe238=)
|
rs769442375
|
0.00001
|
NM_000133.4(F9):c.723+7T>C
|
rs970573926
|
0.00001
|
NM_000133.4(F9):c.894A>C (p.Arg298=)
|
rs780516722
|
0.00001
|
NM_000133.4(F9):c.936C>T (p.Tyr312=)
|
rs748996457
|
0.00001
|
NM_000133.4(F9):c.972C>T (p.Pro324=)
|
rs1475170749
|
0.00001
|
NM_000133.4(F9):c.990C>T (p.Tyr330=)
|
rs1928109999
|
0.00001
|
NM_000133.4(F9):c.9C>T (p.Arg3=)
|
rs1335753805
|
0.00001
|
NC_000023.10:g.(?_138612860)_(138613021_?)del
|
|
|
NC_000023.10:g.(?_138612860)_(138643034_?)dup
|
|
|
NC_000023.10:g.(?_138612860)_(138914348_?)dup
|
|
|
NC_000023.10:g.(?_138612860)_(139587225_?)del
|
|
|
NC_000023.10:g.(?_138633201)_(138633443_?)del
|
|
|
NC_000023.11:g.(?_139530701)_(139563439_?)del
|
|
|
NC_000023.11:g.(?_139530759)_(139562076_?)del
|
|
|
NC_000023.11:g.(?_139541049)_(139563439_?)del
|
|
|
NC_000023.11:g.139529943A>G
|
|
|
NC_000023.11:g.139530038T>C
|
|
|
NC_000023.11:g.139530731A>G
|
rs1927322453
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
NM_000133.4(F9):c.*828GT[6]
|
rs35599944
|
|
NM_000133.4(F9):c.-17A>G
|
rs1927322926
|
|
NM_000133.4(F9):c.-19C>G
|
rs761036720
|
|
NM_000133.4(F9):c.1002T>A (p.Ile334=)
|
|
|
NM_000133.4(F9):c.1025C>T (p.Thr342Met)
|
rs137852254
|
|
NM_000133.4(F9):c.102T>C (p.His34=)
|
|
|
NM_000133.4(F9):c.1046G>A (p.Gly349Glu)
|
rs1928113004
|
|
NM_000133.4(F9):c.1058T>C (p.Val353Ala)
|
rs137852255
|
|
NM_000133.4(F9):c.1062T>A (p.Ser354Arg)
|
rs2148367882
|
|
NM_000133.4(F9):c.1062T>C (p.Ser354=)
|
rs2148367882
|
|
NM_000133.4(F9):c.1067G>A (p.Trp356Ter)
|
|
|
NM_000133.4(F9):c.1073G>C (p.Arg358Thr)
|
|
|
NM_000133.4(F9):c.1077C>A (p.Val359=)
|
rs2148367918
|
|
NM_000133.4(F9):c.1079T>C (p.Phe360Ser)
|
|
|
NM_000133.4(F9):c.1090A>C (p.Arg364=)
|
rs2148367924
|
|
NM_000133.4(F9):c.1094C>G (p.Ser365Ter)
|
|
|
NM_000133.4(F9):c.1105C>T (p.Leu369Phe)
|
rs2148367939
|
|
NM_000133.4(F9):c.1106T>C (p.Leu369Pro)
|
rs1603267393
|
|
NM_000133.4(F9):c.1107T>A (p.Leu369=)
|
rs750955240
|
|
NM_000133.4(F9):c.1108C>T (p.Gln370Ter)
|
|
|
NM_000133.4(F9):c.1119A>G (p.Arg373=)
|
|
|
NM_000133.4(F9):c.1128T>G (p.Leu376=)
|
|
|
NM_000133.4(F9):c.1135C>T (p.Arg379Ter)
|
rs137852258
|
|
NM_000133.4(F9):c.1136G>A (p.Arg379Gln)
|
rs137852259
|
|
NM_000133.4(F9):c.1144T>C (p.Cys382Arg)
|
rs137852260
|
|
NM_000133.4(F9):c.1147C>G (p.Leu383Val)
|
rs1677128088
|
|
NM_000133.4(F9):c.1148T>A (p.Leu383His)
|
|
|
NM_000133.4(F9):c.1148T>C (p.Leu383Pro)
|
rs1387119011
|
|
NM_000133.4(F9):c.1161del (p.Lys387fs)
|
|
|
NM_000133.4(F9):c.1164C>T (p.Phe388=)
|
rs2148368027
|
|
NM_000133.4(F9):c.1174A>G (p.Asn392Asp)
|
rs1603267412
|
|
NM_000133.4(F9):c.1182G>A (p.Met394Ile)
|
|
|
NM_000133.4(F9):c.1183T>A (p.Phe395Ile)
|
rs1175050951
|
|
NM_000133.4(F9):c.1185C>T (p.Phe395=)
|
|
|
NM_000133.4(F9):c.1187G>A (p.Cys396Tyr)
|
|
|
NM_000133.4(F9):c.1190C>T (p.Ala397Val)
|
|
|
NM_000133.4(F9):c.1206A>T (p.Gly402=)
|
|
|
NM_000133.4(F9):c.1213G>T (p.Asp405Tyr)
|
|
|
NM_000133.4(F9):c.1219T>A (p.Cys407Ser)
|
|
|
NM_000133.4(F9):c.1230T>C (p.Asp410=)
|
|
|
NM_000133.4(F9):c.1231A>G (p.Ser411Gly)
|
rs137852277
|
|
NM_000133.4(F9):c.1233T>C (p.Ser411=)
|
|
|
NM_000133.4(F9):c.1242C>T (p.Pro414=)
|
|
|
NM_000133.4(F9):c.1251T>C (p.Thr417=)
|
|
|
NM_000133.4(F9):c.1255G>A (p.Val419Met)
|
rs1928127579
|
|
NM_000133.4(F9):c.1257G>A (p.Val419=)
|
|
|
NM_000133.4(F9):c.1272C>A (p.Phe424Leu)
|
|
|
NM_000133.4(F9):c.1276A>C (p.Thr426Pro)
|
rs1928129466
|
|
NM_000133.4(F9):c.127C>T (p.Arg43Trp)
|
rs1603264205
|
|
NM_000133.4(F9):c.1281A>G (p.Gly427=)
|
rs2148368224
|
|
NM_000133.4(F9):c.128G>A (p.Arg43Gln)
|
rs1275708479
|
|
NM_000133.4(F9):c.1290C>T (p.Ser430=)
|
|
|
NM_000133.4(F9):c.1292G>T (p.Trp431Leu)
|
|
|
NM_000133.4(F9):c.1293G>T (p.Trp431Cys)
|
|
|
NM_000133.4(F9):c.1294G>A (p.Gly432Ser)
|
|
|
NM_000133.4(F9):c.1295G>C (p.Gly432Ala)
|
rs1928130497
|
|
NM_000133.4(F9):c.1296T>C (p.Gly432=)
|
|
|
NM_000133.4(F9):c.1296T>G (p.Gly432=)
|
rs2148368246
|
|
NM_000133.4(F9):c.129G>A (p.Arg43=)
|
rs2148356042
|
|
NM_000133.4(F9):c.1302G>A (p.Glu434=)
|
rs2148368257
|
|
NM_000133.4(F9):c.1305T>C (p.Cys435=)
|
rs2148368264
|
|
NM_000133.4(F9):c.1328T>C (p.Ile443Thr)
|
rs137852268
|
|
NM_000133.4(F9):c.1332T>C (p.Tyr444=)
|
rs1928132545
|
|
NM_000133.4(F9):c.1344C>T (p.Ser448=)
|
rs2148368307
|
|
NM_000133.4(F9):c.1345C>A (p.Arg449=)
|
|
|
NM_000133.4(F9):c.1347G>A (p.Arg449=)
|
rs1433326581
|
|
NM_000133.4(F9):c.1347G>T (p.Arg449=)
|
|
|
NM_000133.4(F9):c.1358G>A (p.Trp453Ter)
|
rs2148368332
|
|
NM_000133.4(F9):c.135G>A (p.Lys45=)
|
|
|
NM_000133.4(F9):c.1377G>A (p.Lys459=)
|
|
|
NM_000133.4(F9):c.1380C>T (p.Leu460=)
|
rs2148368357
|
|
NM_000133.4(F9):c.1385A>G (p.Ter462=)
|
rs561793582
|
|
NM_000133.4(F9):c.141T>C (p.Tyr47=)
|
rs1556435929
|
|
NM_000133.4(F9):c.142A>G (p.Asn48Asp)
|
|
|
NM_000133.4(F9):c.148G>A (p.Gly50Ser)
|
rs1556435940
|
|
NM_000133.4(F9):c.15C>T (p.Asn5=)
|
|
|
NM_000133.4(F9):c.163T>C (p.Phe55Leu)
|
rs759987427
|
|
NM_000133.4(F9):c.177C>T (p.Asn59=)
|
|
|
NM_000133.4(F9):c.182A>G (p.Glu61Gly)
|
rs2148356134
|
|
NM_000133.4(F9):c.191G>A (p.Cys64Tyr)
|
rs1330779541
|
|
NM_000133.4(F9):c.194T>C (p.Met65Thr)
|
|
|
NM_000133.4(F9):c.201A>G (p.Glu67=)
|
|
|
NM_000133.4(F9):c.223C>T (p.Arg75Ter)
|
rs137852227
|
|
NM_000133.4(F9):c.231T>G (p.Val77=)
|
|
|
NM_000133.4(F9):c.236A>T (p.Glu79Val)
|
|
|
NM_000133.4(F9):c.237_247del (p.Thr81fs)
|
rs2148356221
|
|
NM_000133.4(F9):c.251C>T (p.Thr84Ile)
|
|
|
NM_000133.4(F9):c.252+12C>T
|
|
|
NM_000133.4(F9):c.252+14C>T
|
|
|
NM_000133.4(F9):c.252+15A>G
|
|
|
NM_000133.4(F9):c.252+16T>C
|
|
|
NM_000133.4(F9):c.252+18A>G
|
|
|
NM_000133.4(F9):c.252+20A>G
|
|
|
NM_000133.4(F9):c.253-12T>C
|
|
|
NM_000133.4(F9):c.253-1G>C
|
rs1434866164
|
|
NM_000133.4(F9):c.253-3T>C
|
|
|
NM_000133.4(F9):c.253-8C>T
|
|
|
NM_000133.4(F9):c.267G>A (p.Lys89=)
|
rs1927507472
|
|
NM_000133.4(F9):c.277+14T>C
|
|
|
NM_000133.4(F9):c.277+19C>T
|
|
|
NM_000133.4(F9):c.277+7A>G
|
|
|
NM_000133.4(F9):c.278-12C>T
|
|
|
NM_000133.4(F9):c.278-13A>C
|
|
|
NM_000133.4(F9):c.278-3A>G
|
rs398122990
|
|
NM_000133.4(F9):c.27A>C (p.Ala9=)
|
|
|
NM_000133.4(F9):c.280G>A (p.Gly94Arg)
|
rs1556437035
|
|
NM_000133.4(F9):c.294G>A (p.Glu98=)
|
|
|
NM_000133.4(F9):c.302C>A (p.Pro101Gln)
|
rs2148357901
|
|
NM_000133.4(F9):c.303A>G (p.Pro101=)
|
|
|
NM_000133.4(F9):c.324C>T (p.Cys108=)
|
|
|
NM_000133.4(F9):c.336T>C (p.Ile112=)
|
rs2148357946
|
|
NM_000133.4(F9):c.339T>C (p.Asn113=)
|
|
|
NM_000133.4(F9):c.342C>T (p.Ser114=)
|
rs2148357955
|
|
NM_000133.4(F9):c.344A>G (p.Tyr115Cys)
|
rs1603264727
|
|
NM_000133.4(F9):c.356G>A (p.Cys119Tyr)
|
|
|
NM_000133.4(F9):c.364G>A (p.Gly122Arg)
|
rs770120402
|
|
NM_000133.4(F9):c.368T>C (p.Phe123Ser)
|
rs1927592901
|
|
NM_000133.4(F9):c.36A>G (p.Pro12=)
|
|
|
NM_000133.4(F9):c.382T>C (p.Cys128Arg)
|
|
|
NM_000133.4(F9):c.384T>A (p.Cys128Ter)
|
rs780435919
|
|
NM_000133.4(F9):c.391+9C>G
|
|
|
NM_000133.4(F9):c.392-20G>A
|
|
|
NM_000133.4(F9):c.392-20_392-17del
|
|
|
NM_000133.4(F9):c.392-7_392-4del
|
rs2148361119
|
|
NM_000133.4(F9):c.402T>C (p.Cys134=)
|
|
|
NM_000133.4(F9):c.412A>C (p.Asn138His)
|
|
|
NM_000133.4(F9):c.413A>G (p.Asn138Ser)
|
rs2148361153
|
|
NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs)
|
|
|
NM_000133.4(F9):c.426G>A (p.Glu142=)
|
rs2148361169
|
|
NM_000133.4(F9):c.430T>C (p.Phe144Leu)
|
rs2148361174
|
|
NM_000133.4(F9):c.444T>C (p.Ser148=)
|
|
|
NM_000133.4(F9):c.44T>A (p.Ile15Asn)
|
rs1927326780
|
|
NM_000133.4(F9):c.471T>C (p.Cys157=)
|
rs1603265493
|
|
NM_000133.4(F9):c.478G>A (p.Gly160Arg)
|
|
|
NM_000133.4(F9):c.482A>G (p.Tyr161Cys)
|
rs1927768329
|
|
NM_000133.4(F9):c.484C>T (p.Arg162Ter)
|
rs137852272
|
|
NM_000133.4(F9):c.499C>T (p.Gln167Ter)
|
rs2148361240
|
|
NM_000133.4(F9):c.504G>A (p.Lys168=)
|
|
|
NM_000133.4(F9):c.507C>G (p.Ser169=)
|
rs565055999
|
|
NM_000133.4(F9):c.520+10T>C
|
rs1289621854
|
|
NM_000133.4(F9):c.520+13A>G
|
rs1603265507
|
|
NM_000133.4(F9):c.520+19T>C
|
|
|
NM_000133.4(F9):c.521-10A>G
|
rs1603265768
|
|
NM_000133.4(F9):c.521-11T>C
|
|
|
NM_000133.4(F9):c.521-12C>T
|
|
|
NM_000133.4(F9):c.521-13T>C
|
|
|
NM_000133.4(F9):c.521-17T>C
|
|
|
NM_000133.4(F9):c.521-5del
|
rs1320990506
|
|
NM_000133.4(F9):c.521-7T>C
|
|
|
NM_000133.4(F9):c.522G>A (p.Val174=)
|
rs2148362379
|
|
NM_000133.4(F9):c.532T>C (p.Cys178Arg)
|
rs2148362390
|
|
NM_000133.4(F9):c.545_546del (p.Ser182fs)
|
rs1433656857
|
|
NM_000133.4(F9):c.555A>G (p.Gln185=)
|
|
|
NM_000133.4(F9):c.558T>G (p.Thr186=)
|
|
|
NM_000133.4(F9):c.570C>G (p.Thr190=)
|
rs2148362421
|
|
NM_000133.4(F9):c.573T>A (p.Arg191=)
|
rs2148362436
|
|
NM_000133.4(F9):c.579G>A (p.Glu193=)
|
|
|
NM_000133.4(F9):c.582T>C (p.Thr194=)
|
|
|
NM_000133.4(F9):c.584T>G (p.Val195Gly)
|
|
|
NM_000133.4(F9):c.589C>T (p.Pro197Ser)
|
|
|
NM_000133.4(F9):c.603T>C (p.Tyr201=)
|
|
|
NM_000133.4(F9):c.615T>C (p.Thr205=)
|
rs2148362491
|
|
NM_000133.4(F9):c.621T>C (p.Ala207=)
|
rs1307382807
|
|
NM_000133.4(F9):c.659C>A (p.Ser220Ter)
|
|
|
NM_000133.4(F9):c.676C>A (p.Arg226=)
|
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
NM_000133.4(F9):c.718T>G (p.Trp240Gly)
|
rs1390220758
|
|
NM_000133.4(F9):c.723+11C>T
|
|
|
NM_000133.4(F9):c.723+14A>T
|
|
|
NM_000133.4(F9):c.723+15T>C
|
|
|
NM_000133.4(F9):c.723G>A (p.Gln241=)
|
|
|
NM_000133.4(F9):c.735T>C (p.Asn245=)
|
|
|
NM_000133.4(F9):c.738T>C (p.Gly246=)
|
|
|
NM_000133.4(F9):c.742del (p.Val248fs)
|
|
|
NM_000133.4(F9):c.744T>A (p.Val248=)
|
|
|
NM_000133.4(F9):c.747T>C (p.Asp249=)
|
rs2148367218
|
|
NM_000133.4(F9):c.750A>T (p.Ala250=)
|
|
|
NM_000133.4(F9):c.755G>A (p.Cys252Tyr)
|
|
|
NM_000133.4(F9):c.762C>G (p.Gly254=)
|
|
|
NM_000133.4(F9):c.780A>G (p.Lys260=)
|
|
|
NM_000133.4(F9):c.782G>A (p.Trp261Ter)
|
rs2148367245
|
|
NM_000133.4(F9):c.792T>G (p.Thr264=)
|
|
|
NM_000133.4(F9):c.796G>A (p.Ala266Thr)
|
|
|
NM_000133.4(F9):c.7C>A (p.Arg3Ser)
|
|
|
NM_000133.4(F9):c.7C>T (p.Arg3Cys)
|
rs766259893
|
|
NM_000133.4(F9):c.801C>T (p.His267=)
|
|
|
NM_000133.4(F9):c.82T>C (p.Cys28Arg)
|
rs387906481
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
NM_000133.4(F9):c.835G>C (p.Ala279Pro)
|
rs137852247
|
|
NM_000133.4(F9):c.838+17A>C
|
|
|
NM_000133.4(F9):c.838+18A>G
|
|
|
NM_000133.4(F9):c.838+1_838+16del
|
rs2148367304
|
|
NM_000133.4(F9):c.839-16A>G
|
|
|
NM_000133.4(F9):c.839-1G>A
|
rs1439169192
|
|
NM_000133.4(F9):c.839G>A (p.Gly280Asp)
|
rs1275842849
|
|
NM_000133.4(F9):c.840T>C (p.Gly280=)
|
rs2148367615
|
|
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
|
|
|
NM_000133.4(F9):c.861A>T (p.Thr287=)
|
rs2148367626
|
|
NM_000133.4(F9):c.86C>T (p.Thr29Ile)
|
|
|
NM_000133.4(F9):c.879G>A (p.Lys293=)
|
|
|
NM_000133.4(F9):c.88+10C>G
|
rs1603263402
|
|
NM_000133.4(F9):c.88+10_88+11del
|
rs2148353026
|
|
NM_000133.4(F9):c.88+16T>A
|
|
|
NM_000133.4(F9):c.88+20A>T
|
|
|
NM_000133.4(F9):c.88+2T>C
|
rs2148353009
|
|
NM_000133.4(F9):c.88+8T>C
|
|
|
NM_000133.4(F9):c.880C>T (p.Arg294Ter)
|
rs137852248
|
|
NM_000133.4(F9):c.881G>A (p.Arg294Gln)
|
rs137852249
|
|
NM_000133.4(F9):c.881G>T (p.Arg294Leu)
|
|
|
NM_000133.4(F9):c.885T>C (p.Asn295=)
|
|
|
NM_000133.4(F9):c.888G>A (p.Val296=)
|
rs2148367656
|
|
NM_000133.4(F9):c.88G>A (p.Val30Ile)
|
rs1603263395
|
|
NM_000133.4(F9):c.89-10del
|
|
|
NM_000133.4(F9):c.89-14C>A
|
|
|
NM_000133.4(F9):c.89-19T>A
|
|
|
NM_000133.4(F9):c.89-20A>G
|
|
|
NM_000133.4(F9):c.89-7A>G
|
rs1603264192
|
|
NM_000133.4(F9):c.89-9A>G
|
|
|
NM_000133.4(F9):c.892C>T (p.Arg298Ter)
|
rs137852250
|
|
NM_000133.4(F9):c.894A>G (p.Arg298=)
|
|
|
NM_000133.4(F9):c.906C>T (p.His302=)
|
rs2148367678
|
|
NM_000133.4(F9):c.909C>T (p.His303=)
|
rs2148367681
|
|
NM_000133.4(F9):c.944A>G (p.Asp315Gly)
|
|
|
NM_000133.4(F9):c.945C>T (p.Asp315=)
|
rs2148367722
|
|
NM_000133.4(F9):c.947T>C (p.Ile316Thr)
|
rs1603267344
|
|
NM_000133.4(F9):c.948T>C (p.Ile316=)
|
|
|
NM_000133.4(F9):c.949G>A (p.Ala317Thr)
|
|
|
NM_000133.4(F9):c.960A>C (p.Glu320Asp)
|
rs1489951549
|
|
NM_000133.4(F9):c.963G>T (p.Leu321=)
|
|
|
NM_000133.4(F9):c.969A>G (p.Glu323=)
|
|
|
NM_000133.4(F9):c.984C>G (p.Asn328Lys)
|
|
|
NM_000133.4(F9):c.990C>A (p.Tyr330Ter)
|
rs1928109999
|
|
NM_000133.4(F9):c.9C>G (p.Arg3=)
|
rs1335753805
|
|