ClinVar Miner

List of variants in gene OBSCN reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 327
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HGVS dbSNP gnomAD frequency
NM_001386125.1(OBSCN):c.7443T>G (p.Asp2481Glu) rs1188721 0.73749
NM_001386125.1(OBSCN):c.7471T>C (p.Phe2491Leu) rs1188722 0.70638
NM_001386125.1(OBSCN):c.282T>C (p.Ala94=) rs55971985 0.64092
NM_001386125.1(OBSCN):c.1431A>G (p.Leu477=) rs1620111 0.63514
NM_001386125.1(OBSCN):c.20542C>G (p.Gln6848Glu) rs1188710 0.55228
NM_001386125.1(OBSCN):c.2967C>T (p.Arg989=) rs1771481 0.03322
NM_001386125.1(OBSCN):c.2271G>A (p.Ser757=) rs116554705 0.01691
NM_001386125.1(OBSCN):c.12168G>C (p.Lys4056Asn) rs116357930 0.01650
NM_001386125.1(OBSCN):c.11836G>A (p.Glu3946Lys) rs79902706 0.01643
NM_001386125.1(OBSCN):c.2427C>T (p.Ala809=) rs112729914 0.01564
NM_001386125.1(OBSCN):c.3108G>A (p.Thr1036=) rs77489841 0.01533
NM_001386125.1(OBSCN):c.20934C>T (p.Ala6978=) rs1188715 0.01505
NM_001386125.1(OBSCN):c.12108G>A (p.Ser4036=) rs113015177 0.01391
NM_001386125.1(OBSCN):c.10545G>A (p.Ser3515=) rs116080935 0.01374
NM_001386125.1(OBSCN):c.26286C>T (p.Leu8762=) rs61743077 0.01368
NM_001386125.1(OBSCN):c.4619T>C (p.Val1540Ala) rs112216954 0.01361
NM_001386125.1(OBSCN):c.8706G>A (p.Arg2902=) rs115859729 0.01312
NM_001386125.1(OBSCN):c.144G>A (p.Gln48=) rs114375717 0.01168
NM_001386125.1(OBSCN):c.7865C>T (p.Ser2622Phe) rs112265836 0.01153
NM_001386125.1(OBSCN):c.24228A>G (p.Ser8076=) rs146690906 0.01124
NM_001386125.1(OBSCN):c.8610C>G (p.Thr2870=) rs185248802 0.00977
NM_001386125.1(OBSCN):c.16543C>T (p.Arg5515Cys) rs113376653 0.00964
NM_001386125.1(OBSCN):c.9803C>T (p.Ala3268Val) rs113447751 0.00929
NM_001386125.1(OBSCN):c.20233C>T (p.Arg6745Cys) rs56065114 0.00900
NM_001386125.1(OBSCN):c.11521G>A (p.Gly3841Arg) rs56271332 0.00814
NM_001386125.1(OBSCN):c.16699C>T (p.Leu5567=) rs116642293 0.00811
NM_001386125.1(OBSCN):c.11984C>T (p.Pro3995Leu) rs62621834 0.00810
NM_001386125.1(OBSCN):c.21533-1980G>A rs114053815 0.00806
NM_001386125.1(OBSCN):c.19980T>A (p.Ser6660Arg) rs144372515 0.00796
NM_001386125.1(OBSCN):c.21533-2165C>T rs145544878 0.00776
NM_001386125.1(OBSCN):c.21533-1833G>A rs114510676 0.00756
NM_001386125.1(OBSCN):c.21533-2586C>T rs367920745 0.00728
NM_001386125.1(OBSCN):c.6447C>T (p.His2149=) rs138055037 0.00728
NM_001386125.1(OBSCN):c.16233G>A (p.Thr5411=) rs372827129 0.00726
NM_001386125.1(OBSCN):c.3141G>A (p.Ala1047=) rs140550965 0.00725
NM_001386125.1(OBSCN):c.7450T>C (p.Trp2484Arg) rs62621832 0.00725
NM_001386125.1(OBSCN):c.2528G>A (p.Arg843His) rs141921462 0.00724
NM_001386125.1(OBSCN):c.10472T>G (p.Val3491Gly) rs202022683 0.00722
NM_001386125.1(OBSCN):c.17330T>C (p.Leu5777Pro) rs188302055 0.00683
NM_001386125.1(OBSCN):c.3356A>G (p.Lys1119Arg) rs55760713 0.00655
NM_001386125.1(OBSCN):c.7615C>G (p.Leu2539Val) rs201269256 0.00628
NM_001386125.1(OBSCN):c.24573G>A (p.Ser8191=) rs62640372 0.00615
NM_001386125.1(OBSCN):c.16321G>A (p.Ala5441Thr) rs116557268 0.00606
NM_001386125.1(OBSCN):c.4017T>C (p.Phe1339=) rs75365769 0.00605
NM_001386125.1(OBSCN):c.4020A>C (p.Gln1340His) rs199523598 0.00605
NM_001386125.1(OBSCN):c.15666G>A (p.Gln5222=) rs111731636 0.00602
NM_001386125.1(OBSCN):c.6403C>T (p.Arg2135Cys) rs114195142 0.00596
NM_001386125.1(OBSCN):c.18698G>A (p.Arg6233His) rs56015866 0.00583
NM_001386125.1(OBSCN):c.7462G>T (p.Gly2488Cys) rs74623201 0.00578
NM_001386125.1(OBSCN):c.20169C>T (p.Asp6723=) rs142093978 0.00531
NM_001386125.1(OBSCN):c.11559G>A (p.Val3853=) rs111402242 0.00529
NM_001386125.1(OBSCN):c.8633T>C (p.Val2878Ala) rs200720682 0.00526
NM_001386125.1(OBSCN):c.4542C>T (p.Cys1514=) rs117627593 0.00475
NM_001386125.1(OBSCN):c.2052C>T (p.Phe684=) rs112046759 0.00462
NM_001386125.1(OBSCN):c.26662T>C (p.Cys8888Arg) rs114456717 0.00456
NM_001386125.1(OBSCN):c.5262C>T (p.Asp1754=) rs142188902 0.00434
NM_001386125.1(OBSCN):c.17918G>A (p.Arg5973Gln) rs56249237 0.00428
NM_001386125.1(OBSCN):c.10722T>C (p.His3574=) rs75962730 0.00422
NM_001386125.1(OBSCN):c.1176C>T (p.Arg392=) rs185717159 0.00405
NM_001386125.1(OBSCN):c.20528A>G (p.Tyr6843Cys) rs200385051 0.00398
NM_001386125.1(OBSCN):c.24121C>A (p.Pro8041Thr) rs111553305 0.00383
NM_001386125.1(OBSCN):c.25748C>T (p.Thr8583Met) rs184394044 0.00364
NM_001386125.1(OBSCN):c.18465C>T (p.Arg6155=) rs114969585 0.00356
NM_001386125.1(OBSCN):c.12634T>C (p.Ser4212Pro) rs147471011 0.00341
NM_001386125.1(OBSCN):c.8625C>T (p.Thr2875=) rs12030528 0.00336
NM_001386125.1(OBSCN):c.21533-1917G>A rs141233508 0.00326
NM_001386125.1(OBSCN):c.9424G>A (p.Ala3142Thr) rs191370080 0.00326
NM_001386125.1(OBSCN):c.11538G>T (p.Leu3846=) rs114473169 0.00324
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr) rs191837710 0.00322
NM_001386125.1(OBSCN):c.23271C>T (p.Leu7757=) rs372254901 0.00318
NM_001386125.1(OBSCN):c.17179C>T (p.Arg5727Cys) rs186194072 0.00312
NM_001386125.1(OBSCN):c.11291C>T (p.Ala3764Val) rs55946300 0.00308
NM_001386125.1(OBSCN):c.16397G>A (p.Arg5466His) rs193004966 0.00307
NM_001386125.1(OBSCN):c.21533-2364G>A rs117551232 0.00302
NM_001386125.1(OBSCN):c.8617A>T (p.Thr2873Ser) rs180753915 0.00299
NM_001386125.1(OBSCN):c.6407G>A (p.Arg2136His) rs28603121 0.00294
NM_001386125.1(OBSCN):c.4490G>A (p.Arg1497Gln) rs199874295 0.00291
NM_001386125.1(OBSCN):c.3162C>T (p.Cys1054=) rs12040506 0.00289
NM_001386125.1(OBSCN):c.16333C>G (p.His5445Asp) rs188287808 0.00261
NM_001386125.1(OBSCN):c.11031G>A (p.Pro3677=) rs79290523 0.00256
NM_001386125.1(OBSCN):c.24426C>T (p.Tyr8142=) rs36119328 0.00220
NM_001386125.1(OBSCN):c.5565A>C (p.Lys1855Asn) rs199646052 0.00220
NM_001386125.1(OBSCN):c.9957C>T (p.Leu3319=) rs114058903 0.00212
NM_001386125.1(OBSCN):c.2342G>A (p.Arg781His) rs144514297 0.00208
NM_001386125.1(OBSCN):c.11457C>T (p.Pro3819=) rs56367754 0.00201
NM_001386125.1(OBSCN):c.9819G>A (p.Val3273=) rs112403932 0.00184
NM_001386125.1(OBSCN):c.21214C>G (p.Arg7072Gly) rs142615706 0.00172
NM_001386125.1(OBSCN):c.2328C>T (p.Tyr776=) rs369447003 0.00172
NM_001386125.1(OBSCN):c.9842G>A (p.Arg3281Gln) rs188024384 0.00162
NM_001386125.1(OBSCN):c.8343C>T (p.His2781=) rs376684253 0.00150
NM_001386125.1(OBSCN):c.23303C>A (p.Pro7768His) rs201092597 0.00149
NM_001386125.1(OBSCN):c.15509G>A (p.Arg5170His) rs56306215 0.00140
NM_001386125.1(OBSCN):c.11061C>T (p.Phe3687=) rs369584483 0.00134
NM_001386125.1(OBSCN):c.15006G>A (p.Ala5002=) rs117625801 0.00133
NM_001386125.1(OBSCN):c.1324G>C (p.Val442Leu) rs202113639 0.00131
NM_001386125.1(OBSCN):c.23449G>A (p.Ala7817Thr) rs370128535 0.00130
NM_001386125.1(OBSCN):c.20509G>A (p.Val6837Met) rs201876707 0.00125
NM_001386125.1(OBSCN):c.20115C>T (p.Gly6705=) rs140147625 0.00124
NM_001386125.1(OBSCN):c.7302C>T (p.Cys2434=) rs369558704 0.00124
NM_001386125.1(OBSCN):c.3546C>T (p.Ala1182=) rs147753732 0.00121
NM_001386125.1(OBSCN):c.3288C>T (p.Cys1096=) rs373806868 0.00120
NM_001386125.1(OBSCN):c.26524C>A (p.Arg8842=) rs375899269 0.00116
NM_001386125.1(OBSCN):c.4393G>A (p.Glu1465Lys) rs201854668 0.00116
NM_001386125.1(OBSCN):c.11853C>T (p.Cys3951=) rs200826459 0.00114
NM_001386125.1(OBSCN):c.16361A>T (p.Gln5454Leu) rs116329268 0.00108
NM_001386125.1(OBSCN):c.19460T>C (p.Val6487Ala) rs200706907 0.00107
NM_001386125.1(OBSCN):c.17105G>A (p.Arg5702Gln) rs200354373 0.00106
NM_001386125.1(OBSCN):c.24417C>T (p.Arg8139=) rs499309 0.00105
NM_001386125.1(OBSCN):c.16425C>T (p.Thr5475=) rs373494343 0.00102
NM_001386125.1(OBSCN):c.21533-1989T>A rs192205562 0.00097
NM_001386125.1(OBSCN):c.14667T>C (p.Asn4889=) rs201397658 0.00096
NM_001386125.1(OBSCN):c.6662C>T (p.Thr2221Met) rs200976664 0.00095
NM_001386125.1(OBSCN):c.18062C>T (p.Ala6021Val) rs56359770 0.00093
NM_001386125.1(OBSCN):c.21303C>T (p.Asp7101=) rs56187628 0.00092
NM_001386125.1(OBSCN):c.18705C>A (p.Ala6235=) rs56025664 0.00089
NM_001386125.1(OBSCN):c.23265C>T (p.Asn7755=) rs373415899 0.00088
NM_001386125.1(OBSCN):c.24189T>C (p.Pro8063=) rs190289766 0.00085
NM_001386125.1(OBSCN):c.24325A>T (p.Thr8109Ser) rs186684024 0.00085
NM_001386125.1(OBSCN):c.17174C>T (p.Ser5725Leu) rs181568906 0.00083
NM_001386125.1(OBSCN):c.24681A>G (p.Pro8227=) rs184132520 0.00080
NM_001386125.1(OBSCN):c.17939C>T (p.Pro5980Leu) rs182318410 0.00079
NM_001386125.1(OBSCN):c.26669G>A (p.Arg8890Gln) rs200919408 0.00079
NM_001386125.1(OBSCN):c.16015A>G (p.Thr5339Ala) rs183406337 0.00078
NM_001386125.1(OBSCN):c.20502G>A (p.Lys6834=) rs191140144 0.00078
NM_001386125.1(OBSCN):c.22509C>T (p.Ser7503=) rs369407921 0.00078
NM_001386125.1(OBSCN):c.22532A>T (p.Tyr7511Phe) rs200436705 0.00077
NM_001386125.1(OBSCN):c.15812C>T (p.Thr5271Ile) rs200324593 0.00076
NM_001386125.1(OBSCN):c.16402G>A (p.Ala5468Thr) rs139319906 0.00076
NM_001386125.1(OBSCN):c.16853A>C (p.Glu5618Ala) rs200399314 0.00076
NM_001386125.1(OBSCN):c.9672G>A (p.Val3224=) rs3795784 0.00074
NM_001386125.1(OBSCN):c.9711C>G (p.Val3237=) rs183888195 0.00073
NM_001386125.1(OBSCN):c.9065A>G (p.Asn3022Ser) rs113202278 0.00072
NM_001386125.1(OBSCN):c.1899C>T (p.Ser633=) rs193175485 0.00069
NM_001386125.1(OBSCN):c.16251C>T (p.Pro5417=) rs117435683 0.00056
NM_001386125.1(OBSCN):c.9040G>C (p.Asp3014His) rs202052558 0.00056
NM_001386125.1(OBSCN):c.14674C>T (p.Arg4892Trp) rs200812111 0.00054
NM_001386125.1(OBSCN):c.24984A>G (p.Ser8328=) rs370699889 0.00046
NM_001386125.1(OBSCN):c.8952G>A (p.Ala2984=) rs200898281 0.00046
NM_001386125.1(OBSCN):c.22017C>T (p.Gly7339=) rs187833194 0.00045
NM_001386125.1(OBSCN):c.20378T>C (p.Val6793Ala) rs200917956 0.00038
NM_001386125.1(OBSCN):c.3684G>A (p.Ala1228=) rs368607358 0.00037
NM_001386125.1(OBSCN):c.21300G>A (p.Lys7100=) rs371126427 0.00033
NM_001386125.1(OBSCN):c.15217G>A (p.Glu5073Lys) rs201877667 0.00032
NM_001386125.1(OBSCN):c.19850C>T (p.Ala6617Val) rs191098985 0.00032
NM_001386125.1(OBSCN):c.23350C>T (p.Arg7784Trp) rs369885852 0.00031
NM_001386125.1(OBSCN):c.10638C>T (p.Cys3546=) rs200325218 0.00029
NM_001386125.1(OBSCN):c.14871C>T (p.Cys4957=) rs374501640 0.00028
NM_001386125.1(OBSCN):c.2965C>T (p.Arg989Cys) rs185552992 0.00028
NM_001386125.1(OBSCN):c.6913G>A (p.Val2305Met) rs545316651 0.00028
NM_001386125.1(OBSCN):c.10806C>T (p.Cys3602=) rs201932883 0.00027
NM_001386125.1(OBSCN):c.26238C>T (p.His8746=) rs200991884 0.00027
NM_001386125.1(OBSCN):c.10115C>T (p.Ala3372Val) rs199933567 0.00026
NM_001386125.1(OBSCN):c.12420C>T (p.Ala4140=) rs199641194 0.00024
NM_001386125.1(OBSCN):c.20286+9G>A rs200652532 0.00024
NM_001386125.1(OBSCN):c.23351G>A (p.Arg7784Gln) rs191931829 0.00022
NM_001386125.1(OBSCN):c.24127G>A (p.Ala8043Thr) rs201690985 0.00022
NM_001386125.1(OBSCN):c.5571C>T (p.Arg1857=) rs375439636 0.00021
NM_001386125.1(OBSCN):c.19254C>T (p.Ser6418=) rs762980557 0.00019
NM_001386125.1(OBSCN):c.12249C>T (p.Pro4083=) rs377619088 0.00018
NM_001386125.1(OBSCN):c.12345C>T (p.Leu4115=) rs527943941 0.00018
NM_001386125.1(OBSCN):c.21533-1981C>T rs370965555 0.00017
NM_001386125.1(OBSCN):c.15948C>T (p.Phe5316=) rs762128515 0.00016
NM_001386125.1(OBSCN):c.16503A>G (p.Ala5501=) rs370547153 0.00016
NM_001386125.1(OBSCN):c.11157G>A (p.Thr3719=) rs367736870 0.00014
NM_001386125.1(OBSCN):c.11098+9C>T rs371620989 0.00013
NM_001386125.1(OBSCN):c.3099A>G (p.Thr1033=) rs202097101 0.00013
NM_001386125.1(OBSCN):c.6649C>T (p.Arg2217Cys) rs373361224 0.00012
NM_001386125.1(OBSCN):c.19107C>T (p.Gly6369=) rs375568013 0.00011
NM_001386125.1(OBSCN):c.19478T>C (p.Leu6493Pro) rs200751221 0.00009
NM_001386125.1(OBSCN):c.2313C>T (p.Asp771=) rs773124180 0.00009
NM_001386125.1(OBSCN):c.1770C>T (p.Ser590=) rs368865177 0.00008
NM_001386125.1(OBSCN):c.19991C>A (p.Ala6664Asp) rs758211855 0.00008
NM_001386125.1(OBSCN):c.4668C>T (p.Cys1556=) rs754957194 0.00008
NM_001386125.1(OBSCN):c.10943A>G (p.Tyr3648Cys) rs200407258 0.00007
NM_001386125.1(OBSCN):c.21425T>C (p.Val7142Ala) rs764048578 0.00007
NM_001386125.1(OBSCN):c.7196C>T (p.Ala2399Val) rs756810557 0.00007
NM_001386125.1(OBSCN):c.15633G>A (p.Glu5211=) rs529583811 0.00006
NM_001386125.1(OBSCN):c.18133A>C (p.Ile6045Leu) rs370447058 0.00006
NM_001386125.1(OBSCN):c.18708G>A (p.Lys6236=) rs368295621 0.00006
NM_001386125.1(OBSCN):c.19707G>T (p.Leu6569=) rs370688584 0.00006
NM_001386125.1(OBSCN):c.2095+7G>A rs777774864 0.00006
NM_001386125.1(OBSCN):c.21019+9C>T rs369310498 0.00006
NM_001386125.1(OBSCN):c.21135C>T (p.Phe7045=) rs957676244 0.00006
NM_001386125.1(OBSCN):c.21533-2021C>T rs369473831 0.00006
NM_001386125.1(OBSCN):c.21533-2481C>T rs188301724 0.00006
NM_001386125.1(OBSCN):c.6391G>T (p.Gly2131Cys) rs529561467 0.00006
NM_001386125.1(OBSCN):c.7122G>A (p.Val2374=) rs370744845 0.00006
NM_001386125.1(OBSCN):c.2034C>T (p.His678=) rs766782398 0.00005
NM_001386125.1(OBSCN):c.25697G>A (p.Cys8566Tyr) rs539506090 0.00005
NM_001386125.1(OBSCN):c.14555C>T (p.Pro4852Leu) rs201366506 0.00004
NM_001386125.1(OBSCN):c.16263G>A (p.Ala5421=) rs753836486 0.00004
NM_001386125.1(OBSCN):c.19057+8G>A rs773723365 0.00004
NM_001386125.1(OBSCN):c.19110G>A (p.Val6370=) rs758462260 0.00004
NM_001386125.1(OBSCN):c.21533-2388G>A rs770341667 0.00004
NM_001386125.1(OBSCN):c.24371G>A (p.Arg8124Gln) rs371679328 0.00004
NM_001386125.1(OBSCN):c.4797G>A (p.Ala1599=) rs372472787 0.00004
NM_001386125.1(OBSCN):c.9270C>T (p.Arg3090=) rs747910361 0.00004
NM_001386125.1(OBSCN):c.14778T>C (p.Ser4926=) rs748988016 0.00003
NM_001386125.1(OBSCN):c.16296G>A (p.Pro5432=) rs371306585 0.00003
NM_001386125.1(OBSCN):c.17689G>A (p.Asp5897Asn) rs199580904 0.00003
NM_001386125.1(OBSCN):c.18838G>A (p.Val6280Ile) rs539076050 0.00003
NM_001386125.1(OBSCN):c.19935C>T (p.Asp6645=) rs372819606 0.00003
NM_001386125.1(OBSCN):c.6717A>G (p.Ser2239=) rs560228746 0.00003
NM_001386125.1(OBSCN):c.7346-5C>G rs558611073 0.00003
NM_001386125.1(OBSCN):c.8079G>A (p.Ala2693=) rs371633306 0.00003
NM_001386125.1(OBSCN):c.12185G>A (p.Arg4062Lys) rs751526134 0.00002
NM_001386125.1(OBSCN):c.18006C>T (p.Pro6002=) rs534386095 0.00002
NM_001386125.1(OBSCN):c.5304C>T (p.Ala1768=) rs564962047 0.00002
NM_001386125.1(OBSCN):c.8907C>T (p.Cys2969=) rs745630759 0.00002
NM_001386125.1(OBSCN):c.12155-5C>T rs1412851247 0.00001
NM_001386125.1(OBSCN):c.12729A>G (p.Arg4243=) rs765226873 0.00001
NM_001386125.1(OBSCN):c.14985C>T (p.Arg4995=) rs761271287 0.00001
NM_001386125.1(OBSCN):c.15285G>A (p.Glu5095=) rs887850960 0.00001
NM_001386125.1(OBSCN):c.19701C>T (p.Asp6567=) rs1329204269 0.00001
NM_001386125.1(OBSCN):c.21533-2085G>A rs777660020 0.00001
NM_001386125.1(OBSCN):c.2409G>A (p.Ala803=) rs778138588 0.00001
NM_001386125.1(OBSCN):c.3375G>A (p.Lys1125=) rs768724569 0.00001
NM_001386125.1(OBSCN):c.4644G>A (p.Ala1548=) rs781491859 0.00001
NM_001386125.1(OBSCN):c.7248C>T (p.Arg2416=) rs767978528 0.00001
NM_001386125.1(OBSCN):c.8352C>T (p.Asp2784=) rs370014164 0.00001
NM_001386125.1(OBSCN):c.8418A>G (p.Gln2806=) rs542843632 0.00001
NM_001386125.1(OBSCN):c.84C>G (p.Thr28=) rs1381906791 0.00001
NM_001386125.1(OBSCN):c.8691C>T (p.Pro2897=) rs1477048271 0.00001
NM_001386125.1(OBSCN):c.9963C>T (p.Asp3321=) rs753635690 0.00001
NM_001386125.1(OBSCN):c.10443G>A (p.Glu3481=) rs762381225
NM_001386125.1(OBSCN):c.10464del (p.Tyr3489fs)
NM_001386125.1(OBSCN):c.10616del (p.Gly3539fs)
NM_001386125.1(OBSCN):c.10977C>G (p.Tyr3659Ter)
NM_001386125.1(OBSCN):c.1120del (p.Ala374fs)
NM_001386125.1(OBSCN):c.11451G>A (p.Ala3817=)
NM_001386125.1(OBSCN):c.11626+1G>A
NM_001386125.1(OBSCN):c.11949A>G (p.Thr3983=)
NM_001386125.1(OBSCN):c.11986G>C (p.Val3996Leu) rs78661188
NM_001386125.1(OBSCN):c.12151_12152del (p.Arg4051fs)
NM_001386125.1(OBSCN):c.12396_12402del (p.Ser4133fs)
NM_001386125.1(OBSCN):c.1258+6CGGGGCGGGGCA[3]
NM_001386125.1(OBSCN):c.12943_12944del (p.Arg4315fs)
NM_001386125.1(OBSCN):c.14599_14605del (p.Gln4867fs)
NM_001386125.1(OBSCN):c.14731dup (p.Glu4911fs)
NM_001386125.1(OBSCN):c.14892G>A (p.Ala4964=)
NM_001386125.1(OBSCN):c.15015C>A (p.Tyr5005Ter)
NM_001386125.1(OBSCN):c.1505A>G (p.Gln502Arg) rs1771487
NM_001386125.1(OBSCN):c.15203del (p.Ala5068fs)
NM_001386125.1(OBSCN):c.16013A>G (p.His5338Arg)
NM_001386125.1(OBSCN):c.16219T>C (p.Cys5407Arg)
NM_001386125.1(OBSCN):c.16338C>T (p.His5446=) rs61825301
NM_001386125.1(OBSCN):c.16432+18_16432+19insCCCT
NM_001386125.1(OBSCN):c.16472G>A (p.Arg5491His)
NM_001386125.1(OBSCN):c.16732_16738del (p.Lys5578fs)
NM_001386125.1(OBSCN):c.16796C>G (p.Ser5599Cys) rs1188729
NM_001386125.1(OBSCN):c.16827T>C (p.Gly5609=)
NM_001386125.1(OBSCN):c.16855C>T (p.Arg5619Cys)
NM_001386125.1(OBSCN):c.17056G>T (p.Glu5686Ter)
NM_001386125.1(OBSCN):c.17373+12del rs111916885
NM_001386125.1(OBSCN):c.17756A>G (p.Asp5919Gly)
NM_001386125.1(OBSCN):c.18720G>A (p.Lys6240=) rs966005685
NM_001386125.1(OBSCN):c.18985C>T (p.Arg6329Ter)
NM_001386125.1(OBSCN):c.19276+11dup
NM_001386125.1(OBSCN):c.19276+1G>A
NM_001386125.1(OBSCN):c.19276+2T>G
NM_001386125.1(OBSCN):c.19607C>G (p.Ser6536Ter)
NM_001386125.1(OBSCN):c.19744dup (p.Glu6582fs)
NM_001386125.1(OBSCN):c.20067T>C (p.Ala6689=)
NM_001386125.1(OBSCN):c.20443G>A (p.Ala6815Thr)
NM_001386125.1(OBSCN):c.20728-9C>A
NM_001386125.1(OBSCN):c.21282G>T (p.Pro7094=) rs372931114
NM_001386125.1(OBSCN):c.21392del (p.Lys7131fs)
NM_001386125.1(OBSCN):c.21421-2A>G
NM_001386125.1(OBSCN):c.21533-1956G>C rs1286094882
NM_001386125.1(OBSCN):c.21533-2080G>A
NM_001386125.1(OBSCN):c.21533-2376C>T
NM_001386125.1(OBSCN):c.21533-2850G>A rs370580749
NM_001386125.1(OBSCN):c.21600G>A (p.Ala7200=)
NM_001386125.1(OBSCN):c.21682C>T (p.Pro7228Ser)
NM_001386125.1(OBSCN):c.21713C>A (p.Ala7238Asp)
NM_001386125.1(OBSCN):c.21725G>A (p.Arg7242Lys)
NM_001386125.1(OBSCN):c.22155C>G (p.Thr7385=)
NM_001386125.1(OBSCN):c.22639-20C>T
NM_001386125.1(OBSCN):c.22721C>G (p.Ala7574Gly)
NM_001386125.1(OBSCN):c.23056G>A (p.Glu7686Lys)
NM_001386125.1(OBSCN):c.23199C>T (p.Leu7733=)
NM_001386125.1(OBSCN):c.23203G>A (p.Val7735Ile)
NM_001386125.1(OBSCN):c.23241C>T (p.Ser7747=)
NM_001386125.1(OBSCN):c.23281G>C (p.Ala7761Pro)
NM_001386125.1(OBSCN):c.23385_23386del (p.Ala7795_Ser7796insTer)
NM_001386125.1(OBSCN):c.23399C>T (p.Thr7800Ile)
NM_001386125.1(OBSCN):c.23617G>A (p.Glu7873Lys)
NM_001386125.1(OBSCN):c.23691C>T (p.Ala7897=)
NM_001386125.1(OBSCN):c.23713C>T (p.Arg7905Trp) rs781573745
NM_001386125.1(OBSCN):c.23783C>A (p.Thr7928Asn)
NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)
NM_001386125.1(OBSCN):c.23842G>A (p.Gly7948Arg)
NM_001386125.1(OBSCN):c.24386C>T (p.Ala8129Val)
NM_001386125.1(OBSCN):c.24531A>G (p.Ser8177=)
NM_001386125.1(OBSCN):c.25092T>C (p.Asp8364=)
NM_001386125.1(OBSCN):c.25373C>T (p.Ala8458Val)
NM_001386125.1(OBSCN):c.25609G>A (p.Val8537Met)
NM_001386125.1(OBSCN):c.25722C>T (p.Ser8574=)
NM_001386125.1(OBSCN):c.25834G>A (p.Glu8612Lys)
NM_001386125.1(OBSCN):c.25839G>A (p.Glu8613=)
NM_001386125.1(OBSCN):c.25935A>G (p.Gln8645=)
NM_001386125.1(OBSCN):c.25936T>C (p.Cys8646Arg)
NM_001386125.1(OBSCN):c.25956G>A (p.Gly8652=)
NM_001386125.1(OBSCN):c.26042G>A (p.Arg8681His)
NM_001386125.1(OBSCN):c.26170G>A (p.Glu8724Lys)
NM_001386125.1(OBSCN):c.2653+8C>T
NM_001386125.1(OBSCN):c.26755C>T (p.His8919Tyr)
NM_001386125.1(OBSCN):c.3532G>T (p.Ala1178Ser) rs117147433
NM_001386125.1(OBSCN):c.3727C>T (p.Gln1243Ter)
NM_001386125.1(OBSCN):c.3789A>G (p.Ser1263=) rs1572424025
NM_001386125.1(OBSCN):c.3805C>T (p.Gln1269Ter)
NM_001386125.1(OBSCN):c.4132C>T (p.Gln1378Ter)
NM_001386125.1(OBSCN):c.4225dup (p.Val1409fs)
NM_001386125.1(OBSCN):c.4260C>A (p.Tyr1420Ter)
NM_001386125.1(OBSCN):c.4465C>T (p.Arg1489Ter)
NM_001386125.1(OBSCN):c.4799T>A (p.Val1600Asp)
NM_001386125.1(OBSCN):c.6313del (p.Val2105fs)
NM_001386125.1(OBSCN):c.6858G>A (p.Glu2286=) rs1572730804
NM_001386125.1(OBSCN):c.7078+1G>T
NM_001386125.1(OBSCN):c.7612+1G>T
NM_001386125.1(OBSCN):c.7726-19C>G
NM_001386125.1(OBSCN):c.8873G>A (p.Arg2958Gln)
NM_001386125.1(OBSCN):c.9231G>A (p.Val3077=)
NM_001386125.1(OBSCN):c.9306C>G (p.Pro3102=) rs186845111
NM_001386125.1(OBSCN):c.9427G>C (p.Gly3143Arg) rs370234174
NM_001386125.1(OBSCN):c.9721C>T (p.Arg3241Trp)
NM_001386125.1(OBSCN):c.9754_9755delinsTT (p.Arg3252Leu)

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