NM_000143.4(FH):c.1302C>T (p.Cys434=)
|
rs2070080
|
0.03163
|
NM_000143.4(FH):c.309C>T (p.Ala103=)
|
rs10926501
|
0.02876
|
NM_000143.4(FH):c.927G>A (p.Pro309=)
|
rs61737760
|
0.02428
|
NM_000143.4(FH):c.*221_*222del
|
rs112946286
|
0.01684
|
NM_000143.4(FH):c.904+47G>A
|
rs145209119
|
0.01502
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NM_000143.4(FH):c.1236+14C>T
|
rs149241949
|
0.00157
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
NM_000143.4(FH):c.105G>A (p.Ser35=)
|
rs181655698
|
0.00066
|
NM_000143.4(FH):c.77C>T (p.Pro26Leu)
|
rs187226800
|
0.00051
|
NM_000143.3(FH):c.*266A>G
|
rs113667027
|
0.00037
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
NM_000143.4(FH):c.1303G>A (p.Val435Met)
|
rs147528200
|
0.00021
|
NM_000143.4(FH):c.1237-12A>T
|
rs74405673
|
0.00019
|
NM_000143.4(FH):c.*92G>T
|
rs202167168
|
0.00016
|
NM_000143.4(FH):c.122C>T (p.Ala41Val)
|
rs201486221
|
0.00014
|
NM_000143.4(FH):c.739-10T>C
|
rs201971572
|
0.00013
|
NM_000143.4(FH):c.379-15A>T
|
rs374529177
|
0.00012
|
NM_000143.4(FH):c.217G>A (p.Val73Met)
|
rs201878591
|
0.00010
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
NM_000143.4(FH):c.*102T>C
|
rs200093224
|
0.00009
|
NM_000143.4(FH):c.*211G>C
|
rs1385240800
|
0.00007
|
NM_000143.4(FH):c.12A>G (p.Ala4=)
|
rs201277370
|
0.00006
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000143.4(FH):c.63C>T (p.Ala21=)
|
rs555404867
|
0.00005
|
NM_000143.4(FH):c.1421C>G (p.Thr474Arg)
|
rs369802820
|
0.00004
|
NM_000143.4(FH):c.1482A>G (p.Ala494=)
|
rs201559643
|
0.00004
|
NM_000143.4(FH):c.346A>T (p.Ile116Phe)
|
rs201532589
|
0.00004
|
NM_000143.4(FH):c.917T>C (p.Val306Ala)
|
rs147991516
|
0.00004
|
NM_000143.4(FH):c.305C>T (p.Ala102Val)
|
rs61753295
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000143.4(FH):c.738+14A>G
|
rs765629644
|
0.00003
|
NM_000143.4(FH):c.1428C>T (p.His476=)
|
rs199887605
|
0.00002
|
NM_000143.4(FH):c.358A>G (p.Ile120Val)
|
rs199641124
|
0.00002
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1109-7C>T
|
rs1060504079
|
0.00001
|
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
|
rs863224007
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)
|
rs398123164
|
0.00001
|
NM_000143.4(FH):c.1308G>A (p.Val436=)
|
rs201535626
|
0.00001
|
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)
|
rs863224010
|
0.00001
|
NM_000143.4(FH):c.1408A>G (p.Lys470Glu)
|
rs922905323
|
0.00001
|
NM_000143.4(FH):c.1443C>G (p.Thr481=)
|
rs780200136
|
0.00001
|
NM_000143.4(FH):c.1447A>C (p.Lys483Gln)
|
rs1017406473
|
0.00001
|
NM_000143.4(FH):c.190A>G (p.Asn64Asp)
|
rs886046319
|
0.00001
|
NM_000143.4(FH):c.301C>T (p.Arg101Ter)
|
rs121913120
|
0.00001
|
NM_000143.4(FH):c.415G>A (p.Val139Met)
|
rs200343823
|
0.00001
|
NM_000143.4(FH):c.41T>C (p.Leu14Pro)
|
rs1553342163
|
0.00001
|
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)
|
rs768182640
|
0.00001
|
NM_000143.4(FH):c.560C>G (p.Ser187Ter)
|
rs398123166
|
0.00001
|
NM_000143.4(FH):c.655G>A (p.Asp219Asn)
|
rs11545656
|
0.00001
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
0.00001
|
NM_000143.4(FH):c.805A>G (p.Ile269Val)
|
rs377015873
|
0.00001
|
NM_000143.3(FH):c.-48G>T
|
rs886046320
|
|
NM_000143.3(FH):c.-57C>G
|
rs201589544
|
|
NM_000143.4(FH):c.-14G>C
|
rs543556537
|
|
NM_000143.4(FH):c.1002T>G (p.Ser334Arg)
|
rs2147916185
|
|
NM_000143.4(FH):c.1022A>G (p.Asp341Gly)
|
rs1060499640
|
|
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)
|
rs121913122
|
|
NM_000143.4(FH):c.1041del (p.Gly348fs)
|
rs1060499641
|
|
NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly)
|
|
|
NM_000143.4(FH):c.1056dup (p.Leu353fs)
|
rs863224016
|
|
NM_000143.4(FH):c.1063G>T (p.Glu355Ter)
|
rs1060499642
|
|
NM_000143.4(FH):c.1064A>T (p.Glu355Val)
|
|
|
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)
|
rs727503927
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)
|
rs121913119
|
|
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
|
rs863223966
|
|
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)
|
rs863224004
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1118A>G (p.Asn373Ser)
|
rs1060499643
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1127_1128del (p.Gln376fs)
|
|
|
NM_000143.4(FH):c.1138dup (p.Met380fs)
|
rs781466938
|
|
NM_000143.4(FH):c.1144A>G (p.Met382Val)
|
rs886039365
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1209del (p.Phe403fs)
|
rs1060499644
|
|
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)
|
rs797044974
|
|
NM_000143.4(FH):c.1236+2T>A
|
|
|
NM_000143.4(FH):c.1237-11C>G
|
rs2147913449
|
|
NM_000143.4(FH):c.1237-14_1237-9dup
|
rs779985493
|
|
NM_000143.4(FH):c.1237-50TC[17]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[18]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[22]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[23]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[24]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[25]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-5_1237-4insCTCT
|
rs886046316
|
|
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT
|
rs1553340717
|
|
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)
|
rs1573878145
|
|
NM_000143.4(FH):c.1250_1251insTAATGTGT (p.Leu417fs)
|
|
|
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)
|
rs201005880
|
|
NM_000143.4(FH):c.1293del (p.Glu432fs)
|
rs398123163
|
|
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)
|
rs1553340686
|
|
NM_000143.4(FH):c.1298_1340dup (p.Met449fs)
|
rs1553340681
|
|
NM_000143.4(FH):c.132+5G>T
|
rs1060499627
|
|
NM_000143.4(FH):c.133-1G>A
|
rs863224011
|
|
NM_000143.4(FH):c.1390+1G>T
|
rs886039367
|
|
NM_000143.4(FH):c.1390+2T>C
|
rs1558396285
|
|
NM_000143.4(FH):c.139C>T (p.Gln47Ter)
|
rs863223980
|
|
NM_000143.4(FH):c.1424C>A (p.Ala475Glu)
|
rs863224012
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1469del (p.Gly490fs)
|
rs1060499645
|
|
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)
|
rs886041201
|
|
NM_000143.4(FH):c.1477dup (p.Thr493fs)
|
|
|
NM_000143.4(FH):c.1478del (p.Thr493fs)
|
rs2147911225
|
|
NM_000143.4(FH):c.1500G>A (p.Trp500Ter)
|
rs886039368
|
|
NM_000143.4(FH):c.1506dup (p.Pro503fs)
|
rs886041202
|
|
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)
|
rs1425094515
|
|
NM_000143.4(FH):c.157G>T (p.Glu53Ter)
|
rs863224013
|
|
NM_000143.4(FH):c.1A>C (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.204T>A (p.Tyr68Ter)
|
rs1060500883
|
|
NM_000143.4(FH):c.224del (p.Ser75fs)
|
rs1660242061
|
|
NM_000143.4(FH):c.233dup (p.Asn78fs)
|
|
|
NM_000143.4(FH):c.239dup (p.Ile81fs)
|
rs1553341942
|
|
NM_000143.4(FH):c.267+1G>C
|
rs878853691
|
|
NM_000143.4(FH):c.267+1_267+10del
|
rs1060499629
|
|
NM_000143.4(FH):c.268-2A>G
|
rs1064793741
|
|
NM_000143.4(FH):c.301_319del (p.Arg101fs)
|
rs1558401094
|
|
NM_000143.4(FH):c.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
|
NM_000143.4(FH):c.322C>T (p.Gln108Ter)
|
rs1060499630
|
|
NM_000143.4(FH):c.349G>C (p.Ala117Pro)
|
rs886039363
|
|
NM_000143.4(FH):c.395T>C (p.Leu132Ser)
|
rs1060499632
|
|
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)
|
rs863223995
|
|
NM_000143.4(FH):c.395del (p.Lys131_Leu132insTer)
|
rs1060499631
|
|
NM_000143.4(FH):c.404A>G (p.His135Arg)
|
rs786202833
|
|
NM_000143.4(FH):c.415del (p.Val139fs)
|
|
|
NM_000143.4(FH):c.439dup (p.Thr147fs)
|
rs1060499633
|
|
NM_000143.4(FH):c.490del (p.Met164fs)
|
|
|
NM_000143.4(FH):c.524del (p.Val175fs)
|
rs1060499634
|
|
NM_000143.4(FH):c.554A>G (p.Gln185Arg)
|
rs779707997
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
NM_000143.4(FH):c.557G>A (p.Ser186Asn)
|
rs587782618
|
|
NM_000143.4(FH):c.560C>T (p.Ser187Leu)
|
rs398123166
|
|
NM_000143.4(FH):c.574C>T (p.Pro192Ser)
|
rs1573883345
|
|
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)
|
rs1060499635
|
|
NM_000143.4(FH):c.584T>C (p.Met195Thr)
|
rs863223965
|
|
NM_000143.4(FH):c.587_593del (p.His196fs)
|
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000143.4(FH):c.671_672del (p.Glu224fs)
|
rs780001199
|
|
NM_000143.4(FH):c.698G>T (p.Arg233Leu)
|
rs121913123
|
|
NM_000143.4(FH):c.703C>G (p.His235Asp)
|
rs863223968
|
|
NM_000143.4(FH):c.712G>C (p.Asp238His)
|
|
|
NM_000143.4(FH):c.722_738+3del
|
rs1064792900
|
|
NM_000143.4(FH):c.731T>G (p.Leu244Arg)
|
rs1060499636
|
|
NM_000143.4(FH):c.738+1G>A
|
rs1659988368
|
|
NM_000143.4(FH):c.739-2A>G
|
rs1553341174
|
|
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)
|
rs786202220
|
|
NM_000143.4(FH):c.808del (p.Tyr270fs)
|
rs1060499637
|
|
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)
|
rs1553341163
|
|
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del)
|
rs863223985
|
|
NM_000143.4(FH):c.820G>C (p.Ala274Pro)
|
rs1060499638
|
|
NM_000143.4(FH):c.823G>C (p.Gly275Arg)
|
rs1060499639
|
|
NM_000143.4(FH):c.824_827dup (p.Thr277fs)
|
rs1659922131
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.893_904+7del
|
rs1573881533
|
|
NM_000143.4(FH):c.904+1G>A
|
rs1553341148
|
|
NM_000143.4(FH):c.905-1G>A
|
rs797044973
|
|
NM_000143.4(FH):c.905-5T>A
|
rs886046318
|
|
NM_000143.4(FH):c.907_910del (p.Pro304fs)
|
|
|
NM_000143.4(FH):c.912_918del (p.Phe305fs)
|
rs794727836
|
|
NM_000143.4(FH):c.936T>G (p.Phe312Leu)
|
rs2147916319
|
|
NM_000143.4(FH):c.937G>T (p.Glu313Ter)
|
rs863224001
|
|
NM_000143.4(FH):c.947C>A (p.Ala316Asp)
|
rs863224002
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000143.4(FH):c.954_956dup (p.Asp319_Ala320insAsp)
|
|
|
NM_000143.4(FH):c.965T>G (p.Val322Gly)
|
rs863224003
|
|
NM_000143.4(FH):c.977G>A (p.Gly326Glu)
|
rs1553341037
|
|
NM_000143.4(FH):c.994G>C (p.Ala332Pro)
|
|
|