NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)
|
rs6501820
|
0.89534
|
NM_207346.3(TSEN54):c.285+32C>A
|
rs7218675
|
0.64612
|
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)
|
rs8064529
|
0.63819
|
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)
|
rs7216673
|
0.60248
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
NM_016955.4(SEPSECS):c.*807A>G
|
rs13109061
|
0.38145
|
NM_003384.3(VRK1):c.217-244T>C
|
rs12586511
|
0.34167
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)
|
rs11559205
|
0.09934
|
NM_016955.4(SEPSECS):c.*455C>T
|
rs73252520
|
0.08857
|
NM_003384.3(VRK1):c.1159+43C>G
|
rs45457797
|
0.08564
|
NM_016955.4(SEPSECS):c.*2694A>G
|
rs956925
|
0.07936
|
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)
|
rs2302566
|
0.07763
|
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)
|
rs3208406
|
0.06407
|
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)
|
rs62088470
|
0.04801
|
NM_016955.4(SEPSECS):c.1211+7A>G
|
rs17408685
|
0.04557
|
NM_016955.4(SEPSECS):c.*638G>C
|
rs10004441
|
0.01839
|
NM_016955.4(SEPSECS):c.*2209A>G
|
rs9998044
|
0.01837
|
NM_016955.4(SEPSECS):c.*2966A>G
|
rs115116065
|
0.01758
|
NM_016955.4(SEPSECS):c.*3848C>T
|
rs111294195
|
0.01439
|
NM_016042.4(EXOSC3):c.*197C>T
|
rs117073203
|
0.01382
|
NM_016955.4(SEPSECS):c.*681A>C
|
rs76926200
|
0.01167
|
NM_016955.4(SEPSECS):c.*1041T>C
|
rs114420733
|
0.01027
|
NM_016042.4(EXOSC3):c.*296T>C
|
rs138197600
|
0.01009
|
NM_016955.4(SEPSECS):c.1120+12T>C
|
rs4697552
|
0.00916
|
NM_016042.4(EXOSC3):c.-12G>C
|
rs115431773
|
0.00907
|
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)
|
rs115959591
|
0.00697
|
NM_016955.4(SEPSECS):c.*3775A>G
|
rs115004931
|
0.00670
|
NM_016955.4(SEPSECS):c.935-5T>G
|
rs2302564
|
0.00644
|
NM_016955.4(SEPSECS):c.*2123A>G
|
rs142960382
|
0.00625
|
NM_016955.4(SEPSECS):c.*454C>T
|
rs77936887
|
0.00552
|
NM_016955.4(SEPSECS):c.*2840T>C
|
rs144070806
|
0.00524
|
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)
|
rs62640003
|
0.00417
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_016042.4(EXOSC3):c.*881A>G
|
rs143319153
|
0.00332
|
NM_016955.4(SEPSECS):c.*3402A>G
|
rs149506792
|
0.00300
|
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)
|
rs75288720
|
0.00287
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
NM_016042.4(EXOSC3):c.*64C>T
|
rs142727320
|
0.00209
|
NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)
|
rs62640004
|
0.00177
|
NM_016955.4(SEPSECS):c.*3870A>T
|
rs187861688
|
0.00175
|
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=)
|
rs148209667
|
0.00165
|
NM_016042.4(EXOSC3):c.*555A>C
|
rs188744146
|
0.00133
|
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)
|
rs114878910
|
0.00125
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly)
|
rs150309842
|
0.00099
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_003384.3(VRK1):c.286+12A>G
|
rs376603491
|
0.00085
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
NM_016955.4(SEPSECS):c.*610G>A
|
rs570766273
|
0.00073
|
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=)
|
rs147568068
|
0.00068
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_016955.4(SEPSECS):c.*2990G>C
|
rs555513125
|
0.00063
|
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)
|
rs149583035
|
0.00061
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_016955.4(SEPSECS):c.*223G>A
|
rs146860744
|
0.00051
|
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu)
|
rs202245444
|
0.00050
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala)
|
rs142133435
|
0.00046
|
NM_016042.4(EXOSC3):c.123C>T (p.Asp41=)
|
rs147510873
|
0.00043
|
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln)
|
rs200228117
|
0.00041
|
NM_016042.4(EXOSC3):c.*954G>A
|
rs530895640
|
0.00039
|
NM_016042.4(EXOSC3):c.*795A>G
|
rs558579097
|
0.00038
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg)
|
rs145142315
|
0.00038
|
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln)
|
rs201948434
|
0.00038
|
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)
|
rs202097247
|
0.00037
|
NM_016042.4(EXOSC3):c.-11T>C
|
rs373191549
|
0.00033
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_003384.3(VRK1):c.183A>C (p.Ser61=)
|
rs150196318
|
0.00029
|
NM_016955.4(SEPSECS):c.*1591G>A
|
rs751678209
|
0.00028
|
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)
|
rs368182922
|
0.00026
|
NM_016042.4(EXOSC3):c.*847T>A
|
rs566642894
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_016955.4(SEPSECS):c.*253A>G
|
rs75428345
|
0.00022
|
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)
|
rs1420939606
|
0.00021
|
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp)
|
rs201178873
|
0.00021
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_001077446.4(TSEN34):c.468G>C (p.Ser156=)
|
rs376153530
|
0.00019
|
NM_016955.4(SEPSECS):c.*3234T>A
|
rs551637494
|
0.00019
|
NM_003384.3(VRK1):c.216+8A>G
|
rs369680885
|
0.00016
|
NM_003384.3(VRK1):c.710-13C>T
|
rs374386994
|
0.00016
|
NM_003384.3(VRK1):c.810T>C (p.Tyr270=)
|
rs943810223
|
0.00016
|
NM_003384.3(VRK1):c.906C>T (p.Tyr302=)
|
rs528346065
|
0.00016
|
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp)
|
rs147165460
|
0.00015
|
NM_016955.4(SEPSECS):c.*1122C>T
|
rs770577255
|
0.00014
|
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=)
|
rs77226826
|
0.00014
|
NM_016955.4(SEPSECS):c.548-1G>A
|
rs200041461
|
0.00014
|
NM_016955.4(SEPSECS):c.84T>C (p.His28=)
|
rs532571185
|
0.00014
|
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys)
|
rs377207901
|
0.00014
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
NM_016955.4(SEPSECS):c.*1614T>C
|
rs151120379
|
0.00012
|
NM_016955.4(SEPSECS):c.*328A>T
|
rs796305783
|
0.00012
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
NM_016042.4(EXOSC3):c.*402C>T
|
rs567641975
|
0.00011
|
NM_016955.4(SEPSECS):c.1027-7G>A
|
rs374407543
|
0.00011
|
NM_016955.4(SEPSECS):c.388+10G>A
|
rs376797370
|
0.00011
|
NM_016955.4(SEPSECS):c.389-8A>C
|
rs368514215
|
0.00011
|
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu)
|
rs201214741
|
0.00011
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
NM_016042.4(EXOSC3):c.*63T>G
|
rs753180747
|
0.00010
|
NM_025265.4(TSEN2):c.971C>T (p.Thr324Met)
|
rs772061041
|
0.00010
|
NM_003384.3(VRK1):c.216+19A>G
|
rs200465413
|
0.00009
|
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg)
|
rs149350224
|
0.00009
|
NM_016955.4(SEPSECS):c.*1637G>A
|
rs781169592
|
0.00009
|
NM_016955.4(SEPSECS):c.*1727G>A
|
rs886059345
|
0.00009
|
NM_016955.4(SEPSECS):c.*2179T>C
|
rs886059344
|
0.00009
|
NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly)
|
rs572892329
|
0.00009
|
NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp)
|
rs139718374
|
0.00009
|
NM_016955.4(SEPSECS):c.960A>G (p.Leu320=)
|
rs141199115
|
0.00009
|
NM_016042.4(EXOSC3):c.*611A>G
|
rs939514834
|
0.00008
|
NM_016955.4(SEPSECS):c.*1648G>A
|
rs117876262
|
0.00008
|
NM_016955.4(SEPSECS):c.1027-9T>C
|
rs368335778
|
0.00008
|
NM_016955.4(SEPSECS):c.1212-10C>G
|
rs375688949
|
0.00008
|
NM_016955.4(SEPSECS):c.*6G>A
|
rs753956739
|
0.00007
|
NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=)
|
rs375534729
|
0.00007
|
NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn)
|
rs376308638
|
0.00007
|
NM_003384.3(VRK1):c.*107A>G
|
rs375987917
|
0.00006
|
NM_003384.3(VRK1):c.1005T>C (p.Asp335=)
|
rs948151259
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
NM_003384.3(VRK1):c.286+20T>C
|
rs756827476
|
0.00006
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
NM_016955.4(SEPSECS):c.*2645A>G
|
rs143152362
|
0.00006
|
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val)
|
rs1025711998
|
0.00006
|
NM_016955.4(SEPSECS):c.388+3A>G
|
rs757504141
|
0.00006
|
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val)
|
rs202043298
|
0.00006
|
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln)
|
rs1412431442
|
0.00005
|
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)
|
rs745870736
|
0.00005
|
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)
|
rs142211875
|
0.00005
|
NM_003384.3(VRK1):c.-11C>T
|
rs1055946372
|
0.00004
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
NM_003384.3(VRK1):c.1170C>G (p.Thr390=)
|
rs776701715
|
0.00004
|
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)
|
rs777028935
|
0.00004
|
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln)
|
rs536881543
|
0.00004
|
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)
|
rs769507445
|
0.00004
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
NM_003384.3(VRK1):c.841A>G (p.Asn281Asp)
|
rs772136738
|
0.00004
|
NM_016042.4(EXOSC3):c.24G>T (p.Ala8=)
|
rs755145404
|
0.00004
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
0.00004
|
NM_016955.4(SEPSECS):c.*1574T>C
|
rs886059349
|
0.00004
|
NM_016955.4(SEPSECS):c.*1620C>T
|
rs886059348
|
0.00004
|
NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val)
|
rs764436131
|
0.00004
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala)
|
rs199759408
|
0.00003
|
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
|
rs369917766
|
0.00003
|
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)
|
rs1392561922
|
0.00003
|
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)
|
rs755450815
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003384.3(VRK1):c.577-19G>C
|
rs781055432
|
0.00003
|
NM_003384.3(VRK1):c.882C>T (p.Asn294=)
|
rs541660707
|
0.00003
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
NM_016042.4(EXOSC3):c.475-12A>G
|
rs370087266
|
0.00003
|
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)
|
rs565320740
|
0.00003
|
NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys)
|
rs762180254
|
0.00003
|
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)
|
rs773969315
|
0.00003
|
NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile)
|
rs35557378
|
0.00003
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
0.00003
|
NM_207346.3(TSEN54):c.637A>G (p.Lys213Glu)
|
rs184421010
|
0.00003
|
NM_003384.3(VRK1):c.1065A>C (p.Thr355=)
|
rs765863043
|
0.00002
|
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)
|
rs184887106
|
0.00002
|
NM_003384.3(VRK1):c.1164A>C (p.Ser388=)
|
rs760801260
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala)
|
rs756589419
|
0.00002
|
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)
|
rs771269721
|
0.00002
|
NM_003384.3(VRK1):c.308G>A (p.Arg103His)
|
rs779386449
|
0.00002
|
NM_003384.3(VRK1):c.327T>G (p.Gly109=)
|
rs560242666
|
0.00002
|
NM_003384.3(VRK1):c.39C>T (p.Ser13=)
|
rs759767615
|
0.00002
|
NM_003384.3(VRK1):c.462C>T (p.Val154=)
|
rs757654085
|
0.00002
|
NM_016042.4(EXOSC3):c.*194G>C
|
rs886063933
|
0.00002
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
NM_016042.4(EXOSC3):c.783G>A (p.Thr261=)
|
rs376325566
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016955.4(SEPSECS):c.*112T>C
|
rs886059353
|
0.00002
|
NM_016955.4(SEPSECS):c.*1659C>A
|
rs1356086552
|
0.00002
|
NM_016955.4(SEPSECS):c.*2250A>G
|
rs886059343
|
0.00002
|
NM_016955.4(SEPSECS):c.*327G>A
|
rs1179436290
|
0.00002
|
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter)
|
rs747732980
|
0.00002
|
NM_016955.4(SEPSECS):c.389-10T>C
|
rs777854893
|
0.00002
|
NM_016955.4(SEPSECS):c.389-1G>A
|
rs754373273
|
0.00002
|
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)
|
rs755246924
|
0.00002
|
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser)
|
rs202056552
|
0.00002
|
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)
|
rs200881798
|
0.00002
|
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)
|
rs774157225
|
0.00002
|
NM_207346.3(TSEN54):c.808C>T (p.Pro270Ser)
|
rs758853965
|
0.00002
|
NM_003384.3(VRK1):c.*281G>A
|
rs1889257279
|
0.00001
|
NM_003384.3(VRK1):c.*302T>C
|
rs1294884447
|
0.00001
|
NM_003384.3(VRK1):c.1011C>A (p.Gly337=)
|
rs547821991
|
0.00001
|
NM_003384.3(VRK1):c.1064C>G (p.Thr355Arg)
|
rs1322207018
|
0.00001
|
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)
|
rs145241983
|
0.00001
|
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs)
|
rs892468166
|
0.00001
|
NM_003384.3(VRK1):c.1142A>G (p.Glu381Gly)
|
rs549505565
|
0.00001
|
NM_003384.3(VRK1):c.1143G>A (p.Glu381=)
|
rs745392801
|
0.00001
|
NM_003384.3(VRK1):c.1159+5G>C
|
rs372052354
|
0.00001
|
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)
|
rs149083861
|
0.00001
|
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)
|
rs766501031
|
0.00001
|
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg)
|
rs759541730
|
0.00001
|
NM_003384.3(VRK1):c.127A>G (p.Ile43Val)
|
rs777420974
|
0.00001
|
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)
|
rs1372198425
|
0.00001
|
NM_003384.3(VRK1):c.144T>C (p.Phe48=)
|
rs1887099492
|
0.00001
|
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)
|
rs1237038231
|
0.00001
|
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)
|
rs1474265077
|
0.00001
|
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr)
|
rs768889718
|
0.00001
|
NM_003384.3(VRK1):c.264A>G (p.Gln88=)
|
rs200368952
|
0.00001
|
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)
|
rs772263867
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.279A>T (p.Pro93=)
|
rs765294511
|
0.00001
|
NM_003384.3(VRK1):c.286+18C>T
|
rs370335226
|
0.00001
|
NM_003384.3(VRK1):c.302G>A (p.Arg101His)
|
rs372646027
|
0.00001
|
NM_003384.3(VRK1):c.345G>T (p.Gly115=)
|
rs747216954
|
0.00001
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
0.00001
|
NM_003384.3(VRK1):c.366T>C (p.Asn122=)
|
rs781389131
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)
|
rs201936978
|
0.00001
|
NM_003384.3(VRK1):c.484-4A>G
|
rs572434615
|
0.00001
|
NM_003384.3(VRK1):c.507C>T (p.His169=)
|
rs773548929
|
0.00001
|
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr)
|
rs1888016669
|
0.00001
|
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe)
|
rs1452833653
|
0.00001
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
NM_003384.3(VRK1):c.583T>G (p.Leu195Val)
|
rs779770049
|
0.00001
|
NM_003384.3(VRK1):c.588A>T (p.Val196=)
|
rs1387075963
|
0.00001
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
NM_003384.3(VRK1):c.618A>G (p.Pro206=)
|
rs773555796
|
0.00001
|
NM_003384.3(VRK1):c.639C>T (p.Tyr213=)
|
rs1217274457
|
0.00001
|
NM_003384.3(VRK1):c.66A>G (p.Gln22=)
|
rs146973955
|
0.00001
|
NM_003384.3(VRK1):c.699C>T (p.His233=)
|
rs1372315924
|
0.00001
|
NM_003384.3(VRK1):c.6del (p.Arg3fs)
|
rs780789145
|
0.00001
|
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp)
|
rs1311364931
|
0.00001
|
NM_003384.3(VRK1):c.709+10T>C
|
rs1468277298
|
0.00001
|
NM_003384.3(VRK1):c.709+9G>A
|
rs1202671679
|
0.00001
|
NM_003384.3(VRK1):c.710-14T>C
|
rs1275418589
|
0.00001
|
NM_003384.3(VRK1):c.710-9C>A
|
rs757724286
|
0.00001
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
NM_003384.3(VRK1):c.726T>C (p.Gly242=)
|
rs562273268
|
0.00001
|
NM_003384.3(VRK1):c.72A>C (p.Ala24=)
|
rs147698530
|
0.00001
|
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln)
|
rs1200170208
|
0.00001
|
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)
|
rs761905254
|
0.00001
|
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys)
|
rs747692654
|
0.00001
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
NM_003384.3(VRK1):c.82A>G (p.Ile28Val)
|
rs1210199221
|
0.00001
|
NM_003384.3(VRK1):c.830+10A>G
|
rs544437757
|
0.00001
|
NM_003384.3(VRK1):c.831-12A>G
|
rs1555361641
|
0.00001
|
NM_003384.3(VRK1):c.831-18T>A
|
rs746301651
|
0.00001
|
NM_003384.3(VRK1):c.846T>C (p.Ile282=)
|
rs759546376
|
0.00001
|
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly)
|
rs1449338678
|
0.00001
|
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg)
|
rs1310616396
|
0.00001
|
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg)
|
rs1340163417
|
0.00001
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
NM_003384.3(VRK1):c.889+4G>C
|
rs761286112
|
0.00001
|
NM_003384.3(VRK1):c.966C>T (p.Asp322=)
|
rs1302769997
|
0.00001
|
NM_003384.3(VRK1):c.99A>C (p.Ala33=)
|
rs1461516851
|
0.00001
|
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer)
|
rs752086581
|
0.00001
|
NM_016042.4(EXOSC3):c.*312T>G
|
rs1044154281
|
0.00001
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
NM_016042.4(EXOSC3):c.336A>G (p.Val112=)
|
rs1459576809
|
0.00001
|
NM_016042.4(EXOSC3):c.405G>T (p.Gly135=)
|
rs1828647334
|
0.00001
|
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)
|
rs387907195
|
0.00001
|
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)
|
rs748839685
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_016042.4(EXOSC3):c.813A>G (p.Arg271=)
|
rs373942170
|
0.00001
|
NM_016955.4(SEPSECS):c.*1008T>C
|
rs375166577
|
0.00001
|
NM_016955.4(SEPSECS):c.*2921A>G
|
rs1407421050
|
0.00001
|
NM_016955.4(SEPSECS):c.*354C>T
|
rs572862359
|
0.00001
|
NM_016955.4(SEPSECS):c.1148dup (p.His383fs)
|
rs761072755
|
0.00001
|
NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg)
|
rs1577598082
|
0.00001
|
NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile)
|
rs753701192
|
0.00001
|
NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=)
|
rs921485863
|
0.00001
|
NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys)
|
rs373439857
|
0.00001
|
NM_016955.4(SEPSECS):c.264T>A (p.His88Gln)
|
rs756402081
|
0.00001
|
NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp)
|
rs1004182733
|
0.00001
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter)
|
rs779387647
|
0.00001
|
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg)
|
rs797046051
|
0.00001
|
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)
|
rs376815626
|
0.00001
|
NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser)
|
rs778603443
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)
|
rs879253780
|
0.00001
|
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp)
|
rs542013784
|
0.00001
|
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs)
|
rs762142684
|
0.00001
|
NC_000014.8:g.(?_97299809)_(97327092_?)del
|
|
|
NC_000014.8:g.(?_97319158)_(97322933_?)del
|
|
|
NC_000014.8:g.(?_97326874)_(97327092_?)del
|
|
|
NC_000014.9:g.(?_96810669)_(96860745_?)del
|
|
|
NC_000014.9:g.(?_96846075)_(96847364_?)del
|
|
|
NC_000014.9:g.(?_96846085)_(96847354_?)del
|
|
|
NC_000014.9:g.(?_96856120)_(96860745_?)del
|
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)
|
rs113994150
|
|
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)
|
rs1246937494
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
NM_003384.2(VRK1):c.318_889+1945del
|
|
|
NM_003384.3(VRK1):c.*104A>G
|
rs1889251007
|
|
NM_003384.3(VRK1):c.*171C>A
|
rs1889253340
|
|
NM_003384.3(VRK1):c.*211A>G
|
rs886050949
|
|
NM_003384.3(VRK1):c.*338A>G
|
rs1889259011
|
|
NM_003384.3(VRK1):c.-5-146A>G
|
|
|
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu)
|
rs1261157260
|
|
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)
|
rs779911846
|
|
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro)
|
rs1566713262
|
|
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
|
|
|
NM_003384.3(VRK1):c.1038T>C (p.Asn346=)
|
rs2139815079
|
|
NM_003384.3(VRK1):c.103_104del (p.Lys35fs)
|
rs2139748811
|
|
NM_003384.3(VRK1):c.1056A>G (p.Lys352=)
|
rs2139815109
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
NM_003384.3(VRK1):c.1059A>C (p.Thr353=)
|
rs1226336700
|
|
NM_003384.3(VRK1):c.105G>A (p.Lys35=)
|
|
|
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
|
|
|
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
|
|
|
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1068+10G>A
|
|
|
NM_003384.3(VRK1):c.1068+17_1068+21del
|
|
|
NM_003384.3(VRK1):c.1068+20T>C
|
|
|
NM_003384.3(VRK1):c.1068+20T>G
|
|
|
NM_003384.3(VRK1):c.1068+9T>C
|
|
|
NM_003384.3(VRK1):c.1069-12T>G
|
|
|
NM_003384.3(VRK1):c.1069-17T>C
|
|
|
NM_003384.3(VRK1):c.1069-17T>G
|
|
|
NM_003384.3(VRK1):c.1069-19_1069-16del
|
|
|
NM_003384.3(VRK1):c.1069-2A>G
|
|
|
NM_003384.3(VRK1):c.1069-6T>C
|
rs1889016062
|
|
NM_003384.3(VRK1):c.1069-9A>T
|
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
NM_003384.3(VRK1):c.1072C>A (p.Arg358=)
|
|
|
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
|
|
|
NM_003384.3(VRK1):c.1083A>G (p.Glu361=)
|
|
|
NM_003384.3(VRK1):c.1086T>C (p.Ile362=)
|
rs2139845833
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
|
|
|
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs)
|
rs2139845849
|
|
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg)
|
rs2139748832
|
|
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg)
|
rs1470768259
|
|
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala)
|
rs1168205465
|
|
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)
|
rs2139748841
|
|
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)
|
rs2139845924
|
|
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro)
|
rs199759408
|
|
NM_003384.3(VRK1):c.1119G>A (p.Thr373=)
|
rs777515325
|
|
NM_003384.3(VRK1):c.1122A>G (p.Glu374=)
|
|
|
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg)
|
rs1595691599
|
|
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs)
|
rs1889019962
|
|
NM_003384.3(VRK1):c.1134A>G (p.Thr378=)
|
|
|
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1146G>A (p.Glu382=)
|
rs1889020417
|
|
NM_003384.3(VRK1):c.1149C>T (p.Ala383=)
|
rs1257711610
|
|
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
|
|
|
NM_003384.3(VRK1):c.1159+10A>G
|
rs756764690
|
|
NM_003384.3(VRK1):c.1159+11C>T
|
|
|
NM_003384.3(VRK1):c.1159+18G>T
|
|
|
NM_003384.3(VRK1):c.1159+1G>A
|
rs774877872
|
|
NM_003384.3(VRK1):c.1160-14G>C
|
|
|
NM_003384.3(VRK1):c.1160-2A>G
|
rs199916225
|
|
NM_003384.3(VRK1):c.1160-4C>G
|
|
|
NM_003384.3(VRK1):c.1160-4C>T
|
|
|
NM_003384.3(VRK1):c.1160-5T>C
|
rs2139857584
|
|
NM_003384.3(VRK1):c.1160-7C>T
|
rs1251234541
|
|
NM_003384.3(VRK1):c.1160-7del
|
|
|
NM_003384.3(VRK1):c.1160-8del
|
rs2139857568
|
|
NM_003384.3(VRK1):c.1161T>C (p.Arg387=)
|
rs1196862965
|
|
NM_003384.3(VRK1):c.1161T>G (p.Arg387=)
|
|
|
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
|
|
|
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
|
|
|
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)
|
rs749258908
|
|
NM_003384.3(VRK1):c.1176G>A (p.Lys392=)
|
|
|
NM_003384.3(VRK1):c.120A>G (p.Gly40=)
|
|
|
NM_003384.3(VRK1):c.12A>T (p.Val4=)
|
|
|
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
|
|
|
NM_003384.3(VRK1):c.135A>G (p.Gln45=)
|
rs1595660598
|
|
NM_003384.3(VRK1):c.138A>G (p.Gly46=)
|
|
|
NM_003384.3(VRK1):c.150T>C (p.Cys50=)
|
rs747562164
|
|
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)
|
rs1887100431
|
|
NM_003384.3(VRK1):c.156_160+3del
|
rs1566696845
|
|
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
|
|
|
NM_003384.3(VRK1):c.160+1G>T
|
rs2139749072
|
|
NM_003384.3(VRK1):c.160+1del
|
|
|
NM_003384.3(VRK1):c.161-10T>C
|
|
|
NM_003384.3(VRK1):c.161-2A>G
|
|
|
NM_003384.3(VRK1):c.161-6A>T
|
|
|
NM_003384.3(VRK1):c.161-7dup
|
rs1295596727
|
|
NM_003384.3(VRK1):c.179_180del (p.Glu60fs)
|
rs2139759363
|
|
NM_003384.3(VRK1):c.183A>G (p.Ser61=)
|
|
|
NM_003384.3(VRK1):c.184G>A (p.Val62Ile)
|
rs1555360117
|
|
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
|
|
|
NM_003384.3(VRK1):c.216+1G>A
|
|
|
NM_003384.3(VRK1):c.216+9T>C
|
|
|
NM_003384.3(VRK1):c.217-10A>G
|
rs2139778948
|
|
NM_003384.3(VRK1):c.217-10dup
|
|
|
NM_003384.3(VRK1):c.217-12T>C
|
|
|
NM_003384.3(VRK1):c.217-14T>C
|
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
NM_003384.3(VRK1):c.217-7T>C
|
rs2139778978
|
|
NM_003384.3(VRK1):c.217-8_217-7del
|
|
|
NM_003384.3(VRK1):c.217-9T>C
|
rs529433051
|
|
NM_003384.3(VRK1):c.217-9del
|
rs2139778965
|
|
NM_003384.3(VRK1):c.219A>G (p.Glu73=)
|
|
|
NM_003384.3(VRK1):c.21T>C (p.Ala7=)
|
|
|
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
|
|
|
NM_003384.3(VRK1):c.222C>T (p.Pro74=)
|
|
|
NM_003384.3(VRK1):c.222del (p.Ser75fs)
|
rs2139779014
|
|
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
|
|
|
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
|
|
|
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu)
|
rs2139779062
|
|
NM_003384.3(VRK1):c.237T>G (p.Pro79=)
|
|
|
NM_003384.3(VRK1):c.238C>G (p.Leu80Val)
|
rs2139779081
|
|
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys)
|
rs2139779137
|
|
NM_003384.3(VRK1):c.252A>G (p.Leu84=)
|
|
|
NM_003384.3(VRK1):c.261C>T (p.Tyr87=)
|
rs748309797
|
|
NM_003384.3(VRK1):c.270T>C (p.Ala90=)
|
|
|
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
|
|
|
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro)
|
rs1887677369
|
|
NM_003384.3(VRK1):c.286+11C>A
|
|
|
NM_003384.3(VRK1):c.286+11C>T
|
|
|
NM_003384.3(VRK1):c.286+15A>G
|
|
|
NM_003384.3(VRK1):c.287-11T>C
|
|
|
NM_003384.3(VRK1):c.287-2A>C
|
|
|
NM_003384.3(VRK1):c.287-4G>A
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-4G>T
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-7T>C
|
|
|
NM_003384.3(VRK1):c.287-8_287-7delinsTA
|
rs1064795545
|
|
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
|
|
|
NM_003384.3(VRK1):c.306C>G (p.Thr102=)
|
rs1326352230
|
|
NM_003384.3(VRK1):c.312G>A (p.Lys104=)
|
rs1269621133
|
|
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
|
|
|
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
|
|
|
NM_003384.3(VRK1):c.327T>A (p.Gly109=)
|
|
|
NM_003384.3(VRK1):c.330T>C (p.Val110=)
|
|
|
NM_003384.3(VRK1):c.339T>C (p.Tyr113=)
|
|
|
NM_003384.3(VRK1):c.354A>G (p.Leu118=)
|
|
|
NM_003384.3(VRK1):c.362_365del (p.Lys121fs)
|
rs772146380
|
|
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly)
|
rs1887746110
|
|
NM_003384.3(VRK1):c.374+11G>A
|
rs937625087
|
|
NM_003384.3(VRK1):c.374+15G>C
|
|
|
NM_003384.3(VRK1):c.374+1G>T
|
|
|
NM_003384.3(VRK1):c.374+7A>T
|
|
|
NM_003384.3(VRK1):c.374+7dup
|
|
|
NM_003384.3(VRK1):c.375-10T>C
|
rs2139795498
|
|
NM_003384.3(VRK1):c.375-12A>G
|
|
|
NM_003384.3(VRK1):c.375-14A>G
|
|
|
NM_003384.3(VRK1):c.375-19T>C
|
|
|
NM_003384.3(VRK1):c.375-4T>C
|
|
|
NM_003384.3(VRK1):c.378C>T (p.Tyr126=)
|
rs1344283744
|
|
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp)
|
rs1888003676
|
|
NM_003384.3(VRK1):c.381G>A (p.Arg127=)
|
rs2139795531
|
|
NM_003384.3(VRK1):c.387dup (p.Ile130fs)
|
rs2139795550
|
|
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
|
|
|
NM_003384.3(VRK1):c.396T>C (p.Asp132=)
|
rs2139795583
|
|
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly)
|
rs387906830
|
|
NM_003384.3(VRK1):c.399C>T (p.Arg133=)
|
|
|
NM_003384.3(VRK1):c.402_890-895del
|
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
NM_003384.3(VRK1):c.426T>C (p.Tyr142=)
|
rs2139795639
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
NM_003384.3(VRK1):c.444G>A (p.Arg148=)
|
|
|
NM_003384.3(VRK1):c.456A>G (p.Lys152=)
|
rs2139795727
|
|
NM_003384.3(VRK1):c.459T>C (p.Thr153=)
|
rs145911601
|
|
NM_003384.3(VRK1):c.462C>A (p.Val154=)
|
rs757654085
|
|
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
|
|
|
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
|
|
|
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu)
|
rs763034734
|
|
NM_003384.3(VRK1):c.471A>C (p.Leu157=)
|
rs2139795805
|
|
NM_003384.3(VRK1):c.474C>T (p.Ser158=)
|
rs2139795825
|
|
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser)
|
rs888338488
|
|
NM_003384.3(VRK1):c.483+10_483+23del
|
rs1888009081
|
|
NM_003384.3(VRK1):c.483+12A>G
|
|
|
NM_003384.3(VRK1):c.483+15T>A
|
|
|
NM_003384.3(VRK1):c.483+17C>G
|
|
|
NM_003384.3(VRK1):c.483+1G>A
|
|
|
NM_003384.3(VRK1):c.483+20_483+22del
|
rs566207500
|
|
NM_003384.3(VRK1):c.483+20dup
|
|
|
NM_003384.3(VRK1):c.483+8A>G
|
rs2139795917
|
|
NM_003384.3(VRK1):c.483T>A (p.Ile161=)
|
rs1888008625
|
|
NM_003384.3(VRK1):c.484-15A>T
|
|
|
NM_003384.3(VRK1):c.484-16T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>G
|
|
|
NM_003384.3(VRK1):c.484-5C>T
|
|
|
NM_003384.3(VRK1):c.484-6T>G
|
|
|
NM_003384.3(VRK1):c.484-6dup
|
rs2139796250
|
|
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro)
|
rs1888014947
|
|
NM_003384.3(VRK1):c.495G>C (p.Leu165=)
|
rs2139796298
|
|
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
|
|
|
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
|
|
|
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
|
|
|
NM_003384.3(VRK1):c.513T>C (p.His171=)
|
rs2139796362
|
|
NM_003384.3(VRK1):c.516G>A (p.Glu172=)
|
rs2139796370
|
|
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)
|
rs888762581
|
|
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup)
|
rs2139796397
|
|
NM_003384.3(VRK1):c.534C>T (p.Ile178=)
|
|
|
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg)
|
rs1566708080
|
|
NM_003384.3(VRK1):c.537G>A (p.Lys179=)
|
rs1888016926
|
|
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
|
|
|
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer)
|
rs2139796429
|
|
NM_003384.3(VRK1):c.544A>C (p.Asn182His)
|
rs745552947
|
|
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)
|
rs774219368
|
|
NM_003384.3(VRK1):c.549T>C (p.Leu183=)
|
rs1888017489
|
|
NM_003384.3(VRK1):c.551T>A (p.Leu184His)
|
rs1888017746
|
|
NM_003384.3(VRK1):c.555G>C (p.Leu185=)
|
rs2139796508
|
|
NM_003384.3(VRK1):c.561C>T (p.Tyr187=)
|
rs2139796518
|
|
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
|
|
|
NM_003384.3(VRK1):c.576+11A>G
|
|
|
NM_003384.3(VRK1):c.576+18A>G
|
|
|
NM_003384.3(VRK1):c.576+1G>A
|
|
|
NM_003384.3(VRK1):c.577-11del
|
|
|
NM_003384.3(VRK1):c.577-16G>C
|
|
|
NM_003384.3(VRK1):c.577-18G>A
|
|
|
NM_003384.3(VRK1):c.577-18G>T
|
|
|
NM_003384.3(VRK1):c.577-18del
|
rs759260596
|
|
NM_003384.3(VRK1):c.577-5T>C
|
|
|
NM_003384.3(VRK1):c.57T>C (p.Leu19=)
|
rs2139748645
|
|
NM_003384.3(VRK1):c.582C>T (p.Tyr194=)
|
|
|
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe)
|
rs748878251
|
|
NM_003384.3(VRK1):c.586G>C (p.Val196Leu)
|
rs372089106
|
|
NM_003384.3(VRK1):c.588A>G (p.Val196=)
|
rs1387075963
|
|
NM_003384.3(VRK1):c.591T>C (p.Asp197=)
|
|
|
NM_003384.3(VRK1):c.600T>C (p.Leu200=)
|
|
|
NM_003384.3(VRK1):c.603T>G (p.Ala201=)
|
rs1157448476
|
|
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
|
|
|
NM_003384.3(VRK1):c.609G>A (p.Arg203=)
|
|
|
NM_003384.3(VRK1):c.609G>C (p.Arg203=)
|
rs1298227038
|
|
NM_003384.3(VRK1):c.615C>T (p.Cys205=)
|
rs772730428
|
|
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
|
|
|
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
|
|
|
NM_003384.3(VRK1):c.636A>G (p.Glu212=)
|
rs776975502
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.648C>T (p.Asp216=)
|
rs765348075
|
|
NM_003384.3(VRK1):c.651C>G (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.651C>T (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter)
|
rs2139801958
|
|
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)
|
rs762979613
|
|
NM_003384.3(VRK1):c.660T>C (p.Cys220=)
|
rs762979613
|
|
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.669C>T (p.Gly223=)
|
|
|
NM_003384.3(VRK1):c.672T>A (p.Thr224=)
|
|
|
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
|
|
|
NM_003384.3(VRK1):c.684G>A (p.Thr228=)
|
rs753585913
|
|
NM_003384.3(VRK1):c.684G>C (p.Thr228=)
|
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly)
|
rs757917768
|
|
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser)
|
rs2139802156
|
|
NM_003384.3(VRK1):c.705C>G (p.Gly235=)
|
rs2230532
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.709+12G>A
|
|
|
NM_003384.3(VRK1):c.709+13T>A
|
|
|
NM_003384.3(VRK1):c.709+14A>G
|
|
|
NM_003384.3(VRK1):c.709+17G>A
|
|
|
NM_003384.3(VRK1):c.709+18G>T
|
|
|
NM_003384.3(VRK1):c.709+7_709+12dup
|
|
|
NM_003384.3(VRK1):c.709+8A>G
|
|
|
NM_003384.3(VRK1):c.710-13C>G
|
|
|
NM_003384.3(VRK1):c.710-15C>G
|
rs757988438
|
|
NM_003384.3(VRK1):c.710-1G>A
|
|
|
NM_003384.3(VRK1):c.710-8A>G
|
rs781693457
|
|
NM_003384.3(VRK1):c.710-9C>T
|
|
|
NM_003384.3(VRK1):c.711C>T (p.Ala237=)
|
rs2139803845
|
|
NM_003384.3(VRK1):c.729T>C (p.Asp243=)
|
|
|
NM_003384.3(VRK1):c.72A>G (p.Ala24=)
|
|
|
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter)
|
rs1200170208
|
|
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro)
|
rs1478722226
|
|
NM_003384.3(VRK1):c.747T>C (p.Tyr249=)
|
|
|
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp)
|
rs1888144387
|
|
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg)
|
rs768822328
|
|
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
|
|
|
NM_003384.3(VRK1):c.768T>C (p.Thr256=)
|
rs2139804008
|
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
NM_003384.3(VRK1):c.779del (p.Pro260fs)
|
|
|
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter)
|
rs2139804073
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)
|
rs1566696565
|
|
NM_003384.3(VRK1):c.804T>C (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.804T>G (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu)
|
rs1888147421
|
|
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
|
|
|
NM_003384.3(VRK1):c.812T>C (p.Val271Ala)
|
rs2139804166
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
NM_003384.3(VRK1):c.822C>T (p.Ser274=)
|
|
|
NM_003384.3(VRK1):c.830+12C>T
|
|
|
NM_003384.3(VRK1):c.830+16_830+20del
|
|
|
NM_003384.3(VRK1):c.830+1G>C
|
|
|
NM_003384.3(VRK1):c.830+7G>A
|
rs2139804244
|
|
NM_003384.3(VRK1):c.830+9A>G
|
rs2139804260
|
|
NM_003384.3(VRK1):c.830G>A (p.Arg277Lys)
|
rs1888148684
|
|
NM_003384.3(VRK1):c.831-12A>T
|
|
|
NM_003384.3(VRK1):c.831-16C>T
|
|
|
NM_003384.3(VRK1):c.831-9T>C
|
rs2139804862
|
|
NM_003384.3(VRK1):c.837A>G (p.Arg279=)
|
|
|
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
|
|
|
NM_003384.3(VRK1):c.864A>G (p.Lys288=)
|
rs1744342065
|
|
NM_003384.3(VRK1):c.881del (p.Asn294fs)
|
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
NM_003384.3(VRK1):c.883_886del (p.Lys295fs)
|
rs779282547
|
|
NM_003384.3(VRK1):c.889+10G>A
|
|
|
NM_003384.3(VRK1):c.889+10G>T
|
rs1456272984
|
|
NM_003384.3(VRK1):c.889+11A>G
|
|
|
NM_003384.3(VRK1):c.889+14T>C
|
|
|
NM_003384.3(VRK1):c.889+15C>T
|
|
|
NM_003384.3(VRK1):c.889+18C>T
|
|
|
NM_003384.3(VRK1):c.889+19A>C
|
|
|
NM_003384.3(VRK1):c.889+1G>A
|
rs1482696609
|
|
NM_003384.3(VRK1):c.889+20G>C
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+20G>T
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+8A>G
|
|
|
NM_003384.3(VRK1):c.889+9T>C
|
rs1257886278
|
|
NM_003384.3(VRK1):c.890-10A>G
|
|
|
NM_003384.3(VRK1):c.890-15G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>C
|
|
|
NM_003384.3(VRK1):c.890-22_890-15del
|
|
|
NM_003384.3(VRK1):c.890-4T>C
|
rs2139814659
|
|
NM_003384.3(VRK1):c.894A>G (p.Glu298=)
|
|
|
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
|
|
|
NM_003384.3(VRK1):c.897del (p.Ile299fs)
|
rs2139814687
|
|
NM_003384.3(VRK1):c.8G>A (p.Arg3His)
|
rs902439355
|
|
NM_003384.3(VRK1):c.913dup (p.Thr305fs)
|
rs2139814734
|
|
NM_003384.3(VRK1):c.915A>G (p.Thr305=)
|
rs1481654179
|
|
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
|
|
|
NM_003384.3(VRK1):c.933C>T (p.Tyr311=)
|
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
NM_003384.3(VRK1):c.948T>C (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.948T>G (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
|
|
|
NM_003384.3(VRK1):c.962G>A (p.Arg321His)
|
rs200927943
|
|
NM_003384.3(VRK1):c.967A>G (p.Ile323Val)
|
rs754315181
|
|
NM_003384.3(VRK1):c.969T>C (p.Ile323=)
|
|
|
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg)
|
rs2139814873
|
|
NM_003384.3(VRK1):c.972T>C (p.Leu324=)
|
rs2139814880
|
|
NM_003384.3(VRK1):c.972T>G (p.Leu324=)
|
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003384.3(VRK1):c.984A>G (p.Leu328=)
|
rs765633672
|
|
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
|
|
|
NM_003384.3(VRK1):c.9T>G (p.Arg3=)
|
rs771646609
|
|
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)
|
rs1593910113
|
|
NM_016042.4(EXOSC3):c.*118G>T
|
rs1059059
|
|
NM_016042.4(EXOSC3):c.*242A>C
|
rs1828556271
|
|
NM_016042.4(EXOSC3):c.*354C>A
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*354C>G
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*419A>G
|
rs1828546518
|
|
NM_016042.4(EXOSC3):c.*582A>C
|
rs886063932
|
|
NM_016042.4(EXOSC3):c.*812T>G
|
rs886063931
|
|
NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)
|
|
|
NM_016042.4(EXOSC3):c.105C>T (p.Leu35=)
|
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu)
|
rs372128042
|
|
NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)
|
|
|
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
|
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
NM_016042.4(EXOSC3):c.150G>A (p.Glu50=)
|
|
|
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
|
|
|
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
|
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)
|
|
|
NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)
|
|
|
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
|
|
|
NM_016042.4(EXOSC3):c.171T>C (p.Ala57=)
|
rs1589061382
|
|
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
|
|
|
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe)
|
rs749691951
|
|
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
|
|
|
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
|
|
|
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
|
|
|
NM_016042.4(EXOSC3):c.201C>T (p.Cys67=)
|
|
|
NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys)
|
rs745785017
|
|
NM_016042.4(EXOSC3):c.209G>A (p.Gly70Asp)
|
|
|
NM_016042.4(EXOSC3):c.21C>A (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.21C>G (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
|
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)
|
|
|
NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.234G>T (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.240C>T (p.Val80=)
|
|
|
NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)
|
|
|
NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)
|
|
|
NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val)
|
rs2118981494
|
|
NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)
|
|
|
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser)
|
rs1404319370
|
|
NM_016042.4(EXOSC3):c.261T>A (p.Arg87=)
|
rs1294998925
|
|
NM_016042.4(EXOSC3):c.264C>T (p.His88=)
|
|
|
NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)
|
|
|
NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)
|
|
|
NM_016042.4(EXOSC3):c.27T>C (p.Ala9=)
|
|
|
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
|
|
|
NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)
|
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
|
|
|
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
|
|
|
NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)
|
|
|
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
|
|
|
NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)
|
|
|
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)
|
|
|
NM_016042.4(EXOSC3):c.324+9G>T
|
|
|
NM_016042.4(EXOSC3):c.325-10C>G
|
|
|
NM_016042.4(EXOSC3):c.325-1G>T
|
|
|
NM_016042.4(EXOSC3):c.325-20C>T
|
|
|
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
|
|
|
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
|
|
|
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)
|
rs145622193
|
|
NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)
|
|
|
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly)
|
rs2118980284
|
|
NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)
|
|
|
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
|
|
|
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr)
|
rs758230758
|
|
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs)
|
rs2118980242
|
|
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln)
|
rs373193552
|
|
NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)
|
|
|
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
|
|
|
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)
|
rs1198691735
|
|
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)
|
rs1828647523
|
|
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs)
|
rs2118980158
|
|
NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)
|
|
|
NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)
|
|
|
NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
|
|
|
NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)
|
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)
|
|
|
NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)
|
|
|
NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)
|
|
|
NM_016042.4(EXOSC3):c.474+11G>C
|
|
|
NM_016042.4(EXOSC3):c.474+11del
|
|
|
NM_016042.4(EXOSC3):c.474+13G>A
|
|
|
NM_016042.4(EXOSC3):c.474+14C>T
|
|
|
NM_016042.4(EXOSC3):c.474+15C>T
|
|
|
NM_016042.4(EXOSC3):c.474+16T>C
|
|
|
NM_016042.4(EXOSC3):c.474+8C>T
|
|
|
NM_016042.4(EXOSC3):c.474+9G>A
|
|
|
NM_016042.4(EXOSC3):c.475-15T>A
|
|
|
NM_016042.4(EXOSC3):c.475-6T>C
|
|
|
NM_016042.4(EXOSC3):c.475-8_475-6del
|
|
|
NM_016042.4(EXOSC3):c.475-8del
|
|
|
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)
|
rs2118977758
|
|
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
|
|
|
NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)
|
|
|
NM_016042.4(EXOSC3):c.537C>T (p.Val179=)
|
|
|
NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)
|
|
|
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
|
|
|
NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)
|
rs730882145
|
|
NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)
|
|
|
NM_016042.4(EXOSC3):c.57T>C (p.Ala19=)
|
|
|
NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)
|
|
|
NM_016042.4(EXOSC3):c.591T>G (p.Gly197=)
|
rs753935327
|
|
NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)
|
|
|
NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)
|
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
|
|
|
NM_016042.4(EXOSC3):c.626+11A>G
|
|
|
NM_016042.4(EXOSC3):c.626+15C>G
|
|
|
NM_016042.4(EXOSC3):c.627-12_627-8del
|
rs778480656
|
|
NM_016042.4(EXOSC3):c.627-16_627-12del
|
|
|
NM_016042.4(EXOSC3):c.627-18C>A
|
|
|
NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)
|
|
|
NM_016042.4(EXOSC3):c.63C>G (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)
|
|
|
NM_016042.4(EXOSC3):c.663G>A (p.Val221=)
|
|
|
NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.66A>G (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
|
|
|
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
|
|
|
NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)
|
|
|
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
|
|
|
NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)
|
|
|
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
|
|
|
NM_016042.4(EXOSC3):c.69A>G (p.Val23=)
|
|
|
NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>G (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)
|
|
|
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
|
|
|
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)
|
rs140199968
|
|
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)
|
rs140199968
|
|
NM_016042.4(EXOSC3):c.70C>T (p.Leu24=)
|
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
|
|
|
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr)
|
rs2118975671
|
|
NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)
|
|
|
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser)
|
rs561283125
|
|
NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)
|
|
|
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)
|
rs767942736
|
|
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
|
|
|
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
|
|
|
NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)
|
|
|
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del)
|
rs755175121
|
|
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
|
|
|
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
|
|
|
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
|
|
|
NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)
|
|
|
NM_016042.4(EXOSC3):c.81G>C (p.Val27=)
|
|
|
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)
|
rs1828567719
|
|
NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)
|
|
|
NM_016955.4(SEPSECS):c.*1031G>A
|
rs559066856
|
|
NM_016955.4(SEPSECS):c.*1622T>C
|
rs886059347
|
|
NM_016955.4(SEPSECS):c.*1635G>A
|
rs886059346
|
|
NM_016955.4(SEPSECS):c.*2300A>G
|
rs184832870
|
|
NM_016955.4(SEPSECS):c.*2480T>G
|
rs966419399
|
|
NM_016955.4(SEPSECS):c.*2618C>A
|
rs1728115319
|
|
NM_016955.4(SEPSECS):c.*2708G>A
|
rs886059342
|
|
NM_016955.4(SEPSECS):c.*271G>A
|
rs544559197
|
|
NM_016955.4(SEPSECS):c.*2871T>C
|
rs1728102688
|
|
NM_016955.4(SEPSECS):c.*2916A>G
|
rs1728100643
|
|
NM_016955.4(SEPSECS):c.*3082A>G
|
rs886059341
|
|
NM_016955.4(SEPSECS):c.*3134C>A
|
rs886059340
|
|
NM_016955.4(SEPSECS):c.*352A>G
|
rs1728221965
|
|
NM_016955.4(SEPSECS):c.*420G>C
|
rs886059352
|
|
NM_016955.4(SEPSECS):c.*470T>G
|
rs886059351
|
|
NM_016955.4(SEPSECS):c.*612G>T
|
rs886059350
|
|
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His)
|
rs1029077401
|
|
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)
|
rs267607036
|
|
NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys)
|
rs1064796736
|
|
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs)
|
rs781277383
|
|
NM_016955.4(SEPSECS):c.1067C>T (p.Ser356Leu)
|
|
|
NM_016955.4(SEPSECS):c.1120+8C>A
|
rs1728415390
|
|
NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr)
|
rs1261267969
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
|
|
NM_016955.4(SEPSECS):c.115-18dup
|
rs34423002
|
|
NM_016955.4(SEPSECS):c.115-4del
|
rs34423002
|
|
NM_016955.4(SEPSECS):c.1178C>T (p.Ser393Leu)
|
|
|
NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr)
|
rs527970470
|
|
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe)
|
rs752082832
|
|
NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu)
|
rs751823145
|
|
NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr)
|
rs1233729947
|
|
NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn)
|
rs1728243877
|
|
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)
|
rs773876739
|
|
NM_016955.4(SEPSECS):c.181A>G (p.Met61Val)
|
rs910702708
|
|
NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu)
|
rs1025711998
|
|
NM_016955.4(SEPSECS):c.238G>A (p.Ala80Thr)
|
|
|
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)
|
rs1309003036
|
|
NM_016955.4(SEPSECS):c.388+5G>A
|
rs1057518887
|
|
NM_016955.4(SEPSECS):c.437T>C (p.Met146Thr)
|
|
|
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter)
|
rs1712612053
|
|
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)
|
rs776438003
|
|
NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys)
|
rs768840152
|
|
NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg)
|
rs1194507895
|
|
NM_016955.4(SEPSECS):c.804+4A>T
|
rs1479554001
|
|
NM_016955.4(SEPSECS):c.812G>T (p.Arg271Leu)
|
rs573577287
|
|
NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val)
|
rs746824533
|
|
NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg)
|
rs1323473750
|
|
NM_016955.5(SEPSECS):c.808dup
|
rs776969714
|
|
NM_025265.4(TSEN2):c.1016T>G (p.Phe339Cys)
|
|
|
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys)
|
rs1477347690
|
|
NM_025265.4(TSEN2):c.1087G>A (p.Gly363Arg)
|
|
|
NM_025265.4(TSEN2):c.1272T>C (p.Ile424=)
|
rs111535594
|
|
NM_025265.4(TSEN2):c.1355G>T (p.Arg452Leu)
|
|
|
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)
|
rs797046052
|
|
NM_025265.4(TSEN2):c.23C>A (p.Ala8Asp)
|
|
|
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter)
|
rs730880294
|
|
NM_025265.4(TSEN2):c.703CAT[1] (p.His236del)
|
|
|
NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs)
|
rs2054534882
|
|
NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys)
|
rs1553587071
|
|
NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg)
|
rs886037739
|
|
NM_025265.4(TSEN2):c.960+1_960+5del
|
rs886037738
|
|
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly)
|
rs730882223
|
|
NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys)
|
rs879253779
|
|
NM_181503.3(EXOSC8):c.17+1G>T
|
rs1412754843
|
|
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)
|
|
|
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)
|
|
|
NM_181503.3(EXOSC8):c.55-10_55-9del
|
rs144158336
|
|
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)
|
rs606231285
|
|
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)
|
rs1593709247
|
|
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)
|
rs773616244
|
|
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)
|
rs1221939030
|
|
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
|
rs764339075
|
|
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr)
|
rs1568003520
|
|
NM_207346.3(TSEN54):c.1280T>C (p.Leu427Pro)
|
rs2053450384
|
|
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)
|
rs797046054
|
|
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)
|
rs797046055
|
|
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser)
|
rs1598480419
|
|
NM_207346.3(TSEN54):c.167G>A (p.Arg56His)
|
rs1281448557
|
|
NM_207346.3(TSEN54):c.175C>G (p.Arg59Gly)
|
|
|
NM_207346.3(TSEN54):c.823del (p.Val275fs)
|
rs797046057
|
|
NM_207346.3(TSEN54):c.940del (p.Leu314fs)
|
rs1012275384
|
|
TSEN54:c.[277T>C;919G>T]
|
|
|