ClinVar Miner

List of variants studied for bulbospinal muscular atrophy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 902
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HGVS dbSNP gnomAD frequency
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]

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