ClinVar Miner

List of variants in gene F9 studied for hemophilia B

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 506
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.*687G>A rs440051 0.24153
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.*799A>T rs772966694 0.00978
NM_000133.4(F9):c.1110G>A (p.Gln370=) rs34698779 0.00833
NM_000133.4(F9):c.*606G>A rs191483077 0.00507
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.*1048G>A rs752396182 0.00125
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.*476C>A rs4149763 0.00052
NM_000133.4(F9):c.*293C>T rs747670394 0.00048
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.*794A>G rs1057515800 0.00031
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.*621G>A rs1278613777 0.00005
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.*10G>C rs186616567 0.00004
NM_000133.4(F9):c.*1122C>A rs907681842 0.00004
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.485G>A (p.Arg162Gln) rs779281053 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.*523A>G rs921041074 0.00002
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.*1283C>G rs1295265700 0.00001
NM_000133.4(F9):c.*197G>A rs1057515798 0.00001
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.1031T>C (p.Ile344Thr) rs387906482 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.1210A>G (p.Arg404Gly) rs1390673858 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.31T>A (p.Ser11Thr) rs387906480 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.459G>A (p.Val153=) rs144314232 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
E7D
F378L
F9, 17747G-A
F9, 17747G-C
F9, EX2-8DEL
F9, EX5-8DEL
F9, GLY367ARG
F9, TRP215TER
NC_000023.10:g.(?_138612860)_(138613021_?)del
NC_000023.10:g.(?_138612860)_(138643034_?)dup
NC_000023.10:g.(?_138612923)_(138619546_138623234)del
NC_000023.10:g.(?_138633201)_(138633443_?)del
NC_000023.11:g.(?_139530701)_(139563439_?)del
NC_000023.11:g.(?_139530738)_(139530853_139537009)del
NC_000023.11:g.(?_139530739)_(139563459_?)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
NG_007994.1:g.(11652_15340)_(15455_22627)del
NG_007994.1:g.(11652_15340)_(22757_25326)del
NG_007994.1:g.(25530_35005)_(35121_35788)del
NM_000133.3:.c.(391+1_392-1)insN[?]
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.1004G>A (p.Cys335Tyr)
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
NM_000133.4(F9):c.1005C>G (p.Cys335Trp) rs1928110579
NM_000133.4(F9):c.1009G>A (p.Ala337Thr) rs137852253
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.4(F9):c.1010C>T (p.Ala337Val)
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
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.1064G>T (p.Gly355Val) rs137852256
NM_000133.4(F9):c.1067G>A (p.Trp356Ter)
NM_000133.4(F9):c.1068G>A (p.Trp356Ter)
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.1070G>A (p.Gly357Glu) rs137852275
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.1084A>G (p.Lys362Glu)
NM_000133.4(F9):c.1086del (p.Arg364fs)
NM_000133.4(F9):c.1088G>T (p.Gly363Val) rs387906479
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.1112A>G (p.Tyr371Cys)
NM_000133.4(F9):c.1119A>G (p.Arg373=)
NM_000133.4(F9):c.1120G>T (p.Val374Phe) rs137852271
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.1138G>A (p.Ala380Thr) rs2148367990
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.1151G>C (p.Arg384Pro) rs137852283
NM_000133.4(F9):c.1151G>T (p.Arg384Leu) rs137852283
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.1175ACA[1] (p.Asn393del)
NM_000133.4(F9):c.1180A>G (p.Met394Val) rs137852262
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.1187G>C (p.Cys396Ser) rs137852273
NM_000133.4(F9):c.1189G>C (p.Ala397Pro) rs137852281
NM_000133.4(F9):c.1190C>T (p.Ala397Val)
NM_000133.4(F9):c.1193G>T (p.Gly398Val)
NM_000133.4(F9):c.1206A>T (p.Gly402=)
NM_000133.4(F9):c.1213G>T (p.Asp405Tyr)
NM_000133.4(F9):c.1217C>G (p.Ser406Ter)
NM_000133.4(F9):c.1217C>T (p.Ser406Leu) rs137852263
NM_000133.4(F9):c.1219T>A (p.Cys407Ser)
NM_000133.4(F9):c.1228G>C (p.Asp410His) rs137852278
NM_000133.4(F9):c.1230T>C (p.Asp410=)
NM_000133.4(F9):c.1231A>G (p.Ser411Gly) rs137852277
NM_000133.4(F9):c.1232G>T (p.Ser411Ile) rs137852276
NM_000133.4(F9):c.1233T>C (p.Ser411=)
NM_000133.4(F9):c.1235G>A (p.Gly412Glu)
NM_000133.4(F9):c.1235G>C (p.Gly412Ala)
NM_000133.4(F9):c.1240C>A (p.Pro414Thr) rs137852265
NM_000133.4(F9):c.1242C>T (p.Pro414=)
NM_000133.4(F9):c.1249A>G (p.Thr417Ala)
NM_000133.4(F9):c.1251T>C (p.Thr417=)
NM_000133.4(F9):c.1255G>A (p.Val419Met) rs1928127579
NM_000133.4(F9):c.1256T>A (p.Val419Glu) rs137852280
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.1303T>A (p.Cys435Ser)
NM_000133.4(F9):c.1303T>C (p.Cys435Arg)
NM_000133.4(F9):c.1303T>G (p.Cys435Gly)
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr) rs1385141619
NM_000133.4(F9):c.1304G>T (p.Cys435Phe)
NM_000133.4(F9):c.1305T>C (p.Cys435=) rs2148368264
NM_000133.4(F9):c.1307C>A (p.Ala436Glu) rs137852266
NM_000133.4(F9):c.1307C>T (p.Ala436Val) rs137852266
NM_000133.4(F9):c.1324G>A (p.Gly442Arg) rs137852267
NM_000133.4(F9):c.1325G>A (p.Gly442Glu) rs1603267474
NM_000133.4(F9):c.1325G>C (p.Gly442Ala)
NM_000133.4(F9):c.1325G>T (p.Gly442Val)
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.1338G>C (p.Lys446Asn)
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.1357T>C (p.Trp453Arg) rs137852269
NM_000133.4(F9):c.1358G>A (p.Trp453Ter) rs2148368332
NM_000133.4(F9):c.1359G>A (p.Trp453Ter)
NM_000133.4(F9):c.135G>A (p.Lys45=)
NM_000133.4(F9):c.1369A>T (p.Lys457Ter) rs137852270
NM_000133.4(F9):c.1372del (p.Thr458fs)
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.138G>Y (p.Arg46Ser)
NM_000133.4(F9):c.141T>A (p.Tyr47Ter) rs1556435929
NM_000133.4(F9):c.141T>C (p.Tyr47=) rs1556435929
NM_000133.4(F9):c.141_151del (p.Tyr47_Lys51delinsTer)
NM_000133.4(F9):c.142A>G (p.Asn48Asp)
NM_000133.4(F9):c.142A>T (p.Asn48Tyr) rs1927493197
NM_000133.4(F9):c.148G>A (p.Gly50Ser) rs1556435940
NM_000133.4(F9):c.15C>T (p.Asn5=)
NM_000133.4(F9):c.160G>A (p.Glu54Lys)
NM_000133.4(F9):c.163T>C (p.Phe55Leu) rs759987427
NM_000133.4(F9):c.169C>T (p.Gln57Ter) rs137852223
NM_000133.4(F9):c.177C>T (p.Asn59=)
NM_000133.4(F9):c.182A>G (p.Glu61Gly) rs2148356134
NM_000133.4(F9):c.190T>C (p.Cys64Arg) rs137852224
NM_000133.4(F9):c.191G>A (p.Cys64Tyr) rs1330779541
NM_000133.4(F9):c.194T>C (p.Met65Thr)
NM_000133.4(F9):c.196G>A (p.Glu66Lys) rs1569481975
NM_000133.4(F9):c.201A>G (p.Glu67=)
NM_000133.4(F9):c.211T>C (p.Phe71Leu)
NM_000133.4(F9):c.214G>T (p.Glu72Ter) rs1927498635
NM_000133.4(F9):c.218A>T (p.Glu73Val) rs137852226
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.237A>C (p.Glu79Asp) rs137852229
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.252+5G>A rs1266788575
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.268C>T (p.Gln90Ter)
NM_000133.4(F9):c.271T>A (p.Tyr91Asn) rs1927507602
NM_000133.4(F9):c.277+14T>C
NM_000133.4(F9):c.277+19C>T
NM_000133.4(F9):c.277+1G>A rs1224128266
NM_000133.4(F9):c.277+2T>C rs587776735
NM_000133.4(F9):c.277+5G>A
NM_000133.4(F9):c.277+7A>G
NM_000133.4(F9):c.278-11C>T
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.278-4A>G
NM_000133.4(F9):c.278A>G (p.Asp93Gly) rs137852230
NM_000133.4(F9):c.27A>C (p.Ala9=)
NM_000133.4(F9):c.280G>A (p.Gly94Arg) rs1556437035
NM_000133.4(F9):c.284A>C (p.Asp95Ala) rs1927589695
NM_000133.4(F9):c.284A>T (p.Asp95Val) rs1927589695
NM_000133.4(F9):c.287A>C (p.Gln96Pro) rs137852231
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.314G>A (p.Gly105Asp) rs1927590546
NM_000133.4(F9):c.314G>T (p.Gly105Val)
NM_000133.4(F9):c.324C>T (p.Cys108=)
NM_000133.4(F9):c.328G>A (p.Asp110Asn) rs137852274
NM_000133.4(F9):c.329A>G (p.Asp110Gly) rs137852234
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.365G>T (p.Gly122Val) rs1927592770
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.390_392-2726delinsTTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT
NM_000133.4(F9):c.391+11A>G
NM_000133.4(F9):c.391+5G>A rs2148358021
NM_000133.4(F9):c.391+5_391+8del rs1927593812
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.392del (p.Asp131fs)
NM_000133.4(F9):c.401G>C (p.Cys134Ser) rs1927764839
NM_000133.4(F9):c.402T>C (p.Cys134=)
NM_000133.4(F9):c.407T>C (p.Ile136Thr) rs1603265481
NM_000133.4(F9):c.412A>C (p.Asn138His)
NM_000133.4(F9):c.413A>G (p.Asn138Ser) rs2148361153
NM_000133.4(F9):c.416G>A (p.Gly139Asp) rs1216516070
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.479G>C (p.Gly160Ala) rs137852235
NM_000133.4(F9):c.482A>G (p.Tyr161Cys) rs1927768329
NM_000133.4(F9):c.484C>A (p.Arg162=)
NM_000133.4(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.4(F9):c.496A>T (p.Asn166Tyr) rs137852236
NM_000133.4(F9):c.499C>T (p.Gln167Ter) rs2148361240
NM_000133.4(F9):c.504G>A (p.Lys168=)
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
NM_000133.4(F9):c.507C>G (p.Ser169=) rs565055999
NM_000133.4(F9):c.517G>A (p.Ala173Thr) rs865782271
NM_000133.4(F9):c.518C>G (p.Ala173Gly)
NM_000133.4(F9):c.519dup (p.Val174fs) rs1556006174
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.520G>A (p.Val174Met) rs1603265504
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.52T>C (p.Cys18Arg) rs387906474
NM_000133.4(F9):c.532T>C (p.Cys178Arg) rs2148362390
NM_000133.4(F9):c.540_541del (p.Arg180fs) rs587776736
NM_000133.4(F9):c.541G>T (p.Val181Phe) rs387906477
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>A (p.Val195Asp) rs374674030
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.612T>C (p.Ser204=) rs1199474371
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.655C>T (p.Gln219Ter) rs137852239
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.677G>A (p.Arg226Gln) rs137852241
NM_000133.4(F9):c.682G>T (p.Val228Phe) rs137852243
NM_000133.4(F9):c.689G>C (p.Gly230Ala)
NM_000133.4(F9):c.68T>C (p.Leu23Pro)
NM_000133.4(F9):c.697G>A (p.Ala233Thr) rs387906478
NM_000133.4(F9):c.699C>T (p.Ala233=)
NM_000133.4(F9):c.704C>A (p.Pro235Gln) rs2148362579
NM_000133.4(F9):c.709C>T (p.Gln237Ter) rs137852244
NM_000133.4(F9):c.710A>T (p.Gln237Leu) rs137852245
NM_000133.4(F9):c.718T>G (p.Trp240Gly) rs1390220758
NM_000133.4(F9):c.719G>A (p.Trp240Ter) rs1603265827
NM_000133.4(F9):c.720G>A (p.Trp240Ter) rs1603265830
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.723+1G>T rs1603265832
NM_000133.4(F9):c.723G>A (p.Gln241=)
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.732G>A (p.Leu244=)
NM_000133.4(F9):c.735T>C (p.Asn245=)
NM_000133.4(F9):c.735del (p.Asn245fs)
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.755G>C (p.Cys252Ser) rs267606792
NM_000133.4(F9):c.756T>G (p.Cys252Trp) rs1556008316
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.79G>A (p.Glu27Lys) rs387906475
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.802T>A (p.Cys268Ser) rs1603267194
NM_000133.4(F9):c.804T>G (p.Cys268Trp) rs137852246
NM_000133.4(F9):c.827_828del (p.Thr276fs)
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.871G>C (p.Glu291Gln)
NM_000133.4(F9):c.872A>T (p.Glu291Val) rs137852279
NM_000133.4(F9):c.879G>A (p.Lys293=)
NM_000133.4(F9):c.87A>G (p.Thr29=) rs2148353000
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+5G>T rs1603263401
NM_000133.4(F9):c.88+5_88+8del rs1603263399
NM_000133.4(F9):c.88+75A>G
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.884_895del (p.Asn295_Arg298del) rs1928103331
NM_000133.4(F9):c.885T>C (p.Asn295=)
NM_000133.4(F9):c.887T>A (p.Val296Glu) rs1371397743
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.89-15del
NM_000133.4(F9):c.89-19T>A
NM_000133.4(F9):c.89-20A>G
NM_000133.4(F9):c.89-3C>A
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.914A>G (p.Tyr305Cys) rs1603267332
NM_000133.4(F9):c.917A>G (p.Asn306Ser) rs137852251
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.950C>T (p.Ala317Val) rs2148367725
NM_000133.4(F9):c.952C>T (p.Leu318Phe)
NM_000133.4(F9):c.953T>G (p.Leu318Arg)
NM_000133.4(F9):c.959A>G (p.Glu320Gly)
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.969_975del (p.Pro324fs)
NM_000133.4(F9):c.984C>G (p.Asn328Lys)
NM_000133.4(F9):c.990C>A (p.Tyr330Ter) rs1928109999
NM_000133.4(F9):c.998C>T (p.Pro333Leu) rs137852252
NM_000133.4(F9):c.9C>G (p.Arg3=) rs1335753805
Single allele

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