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.*621G>A
|
rs1278613777
|
0.00005
|
NM_000133.4(F9):c.523C>T (p.Pro175Ser)
|
rs762986355
|
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.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.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.130C>T (p.Pro44Ser)
|
rs776894974
|
0.00002
|
NM_000133.4(F9):c.301C>G (p.Pro101Ala)
|
rs137852232
|
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.*1283C>G
|
rs1295265700
|
0.00001
|
NM_000133.4(F9):c.*197G>A
|
rs1057515798
|
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.109G>A (p.Ala37Thr)
|
rs367569299
|
0.00001
|
NM_000133.4(F9):c.1150C>T (p.Arg384Ter)
|
rs137852261
|
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.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000133.4(F9):c.31T>A (p.Ser11Thr)
|
rs387906480
|
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.9C>T (p.Arg3=)
|
rs1335753805
|
0.00001
|
E7D
|
|
|
F378L
|
|
|
F9, 17747G-A
|
|
|
F9, 17747G-C
|
|
|
F9, EX2-8DEL
|
|
|
F9, EX4INS
|
|
|
F9, EX5-8DEL
|
|
|
F9, GLY367ARG
|
|
|
F9, TRP215TER
|
|
|
NC_000023.10:g.(?_138612923)_(138619546_138623234)del
|
|
|
NC_000023.11.g.(?_139530739)_(139563459_?)del
|
|
|
NC_000023.11:g.(?_139530738)_(139530853_139537009)del
|
|
|
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.425_426insAlu
|
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
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>C (p.Ala337Pro)
|
rs137852253
|
|
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.1058T>C (p.Val353Ala)
|
rs137852255
|
|
NM_000133.4(F9):c.1064G>T (p.Gly355Val)
|
rs137852256
|
|
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.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.1120G>T (p.Val374Phe)
|
rs137852271
|
|
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.1151G>C (p.Arg384Pro)
|
rs137852283
|
|
NM_000133.4(F9):c.1151G>T (p.Arg384Leu)
|
rs137852283
|
|
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
|
|
|
NM_000133.4(F9):c.1180A>G (p.Met394Val)
|
rs137852262
|
|
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.1193G>T (p.Gly398Val)
|
|
|
NM_000133.4(F9):c.1217C>T (p.Ser406Leu)
|
rs137852263
|
|
NM_000133.4(F9):c.1228G>C (p.Asp410His)
|
rs137852278
|
|
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.1235G>A (p.Gly412Glu)
|
|
|
NM_000133.4(F9):c.1240C>A (p.Pro414Thr)
|
rs137852265
|
|
NM_000133.4(F9):c.1256T>A (p.Val419Glu)
|
rs137852280
|
|
NM_000133.4(F9):c.127C>T (p.Arg43Trp)
|
rs1603264205
|
|
NM_000133.4(F9):c.128G>A (p.Arg43Gln)
|
rs1275708479
|
|
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.1328T>C (p.Ile443Thr)
|
rs137852268
|
|
NM_000133.4(F9):c.1332T>C (p.Tyr444=)
|
rs1928132545
|
|
NM_000133.4(F9):c.1357T>C (p.Trp453Arg)
|
rs137852269
|
|
NM_000133.4(F9):c.1369A>T (p.Lys457Ter)
|
rs137852270
|
|
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.142A>T (p.Asn48Tyr)
|
rs1927493197
|
|
NM_000133.4(F9):c.169C>T (p.Gln57Ter)
|
rs137852223
|
|
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.237A>C (p.Glu79Asp)
|
rs137852229
|
|
NM_000133.4(F9):c.252+5G>A
|
rs1266788575
|
|
NM_000133.4(F9):c.271T>A (p.Tyr91Asn)
|
rs1927507602
|
|
NM_000133.4(F9):c.277+1G>A
|
rs1224128266
|
|
NM_000133.4(F9):c.277+2T>C
|
rs587776735
|
|
NM_000133.4(F9):c.278-3A>G
|
rs398122990
|
|
NM_000133.4(F9):c.278A>G (p.Asp93Gly)
|
rs137852230
|
|
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.314G>A (p.Gly105Asp)
|
rs1927590546
|
|
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.365G>T (p.Gly122Val)
|
rs1927592770
|
|
NM_000133.4(F9):c.390_392-2726delinsTTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT
|
|
|
NM_000133.4(F9):c.391+5G>A
|
rs2148358021
|
|
NM_000133.4(F9):c.391+5_391+8del
|
rs1927593812
|
|
NM_000133.4(F9):c.392del (p.Asp131fs)
|
|
|
NM_000133.4(F9):c.401G>C (p.Cys134Ser)
|
rs1927764839
|
|
NM_000133.4(F9):c.479G>C (p.Gly160Ala)
|
rs137852235
|
|
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.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.519dup (p.Val174fs)
|
rs1556006174
|
|
NM_000133.4(F9):c.520+13A>G
|
rs1603265507
|
|
NM_000133.4(F9):c.520G>A (p.Val174Met)
|
rs1603265504
|
|
NM_000133.4(F9):c.52T>C (p.Cys18Arg)
|
rs387906474
|
|
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.584T>A (p.Val195Asp)
|
rs374674030
|
|
NM_000133.4(F9):c.612T>C (p.Ser204=)
|
rs1199474371
|
|
NM_000133.4(F9):c.655C>T (p.Gln219Ter)
|
rs137852239
|
|
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.68T>C (p.Leu23Pro)
|
|
|
NM_000133.4(F9):c.697G>A (p.Ala233Thr)
|
rs387906478
|
|
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.719G>A (p.Trp240Ter)
|
rs1603265827
|
|
NM_000133.4(F9):c.720G>A (p.Trp240Ter)
|
rs1603265830
|
|
NM_000133.4(F9):c.723+1G>T
|
rs1603265832
|
|
NM_000133.4(F9):c.731T>C (p.Leu244Ser)
|
rs1603267171
|
|
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.79G>A (p.Glu27Lys)
|
rs387906475
|
|
NM_000133.4(F9):c.7C>T (p.Arg3Cys)
|
rs766259893
|
|
NM_000133.4(F9):c.804T>G (p.Cys268Trp)
|
rs137852246
|
|
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.839-1G>A
|
rs1439169192
|
|
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
|
|
|
NM_000133.4(F9):c.871G>C (p.Glu291Gln)
|
|
|
NM_000133.4(F9):c.872A>T (p.Glu291Val)
|
rs137852279
|
|
NM_000133.4(F9):c.88+5_88+8del
|
rs1603263399
|
|
NM_000133.4(F9):c.88+75A>G
|
|
|
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.884_895del (p.Asn295_Arg298del)
|
rs1928103331
|
|
NM_000133.4(F9):c.887T>A (p.Val296Glu)
|
rs1371397743
|
|
NM_000133.4(F9):c.892C>T (p.Arg298Ter)
|
rs137852250
|
|
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.950C>T (p.Ala317Val)
|
rs2148367725
|
|
NM_000133.4(F9):c.959A>G (p.Glu320Gly)
|
|
|
NM_000133.4(F9):c.998C>T (p.Pro333Leu)
|
rs137852252
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Single allele
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