ClinVar Miner

List of variants in gene OBSCN studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 628
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001386125.1(OBSCN):c.7443T>G (p.Asp2481Glu) rs1188721 0.73749
NM_001386125.1(OBSCN):c.4272T>C (p.Ala1424=) rs7517108 0.72293
NM_001386125.1(OBSCN):c.7471T>C (p.Phe2491Leu) rs1188722 0.70638
NM_001386125.1(OBSCN):c.4200T>C (p.Ala1400=) rs7517088 0.68530
NM_001386125.1(OBSCN):c.3861A>G (p.Thr1287=) rs2487384 0.68509
NM_001386125.1(OBSCN):c.-3C>G rs11804508 0.64782
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.20404-13G>A rs1150916 0.41642
NM_001386125.1(OBSCN):c.14797+18C>T rs3795795 0.19406
NM_001386125.1(OBSCN):c.21685C>T (p.Pro7229Ser) rs11585049 0.04159
NM_001386125.1(OBSCN):c.19058-5C>A rs115555077 0.03346
NM_001386125.1(OBSCN):c.2967C>T (p.Arg989=) rs1771481 0.03322
NM_001386125.1(OBSCN):c.15902G>A (p.Arg5301Gln) rs79023478 0.02697
NM_001386125.1(OBSCN):c.2894G>A (p.Arg965Lys) rs61560753 0.02514
NM_001386125.1(OBSCN):c.3990C>T (p.Cys1330=) rs75801409 0.01700
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.16878C>T (p.Phe5626=) rs3795802 0.00546
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.727G>C (p.Gly243Arg) rs199979779 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.11476C>T (p.Arg3826Cys) rs368391379 0.00048
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.17186C>T (p.Pro5729Leu) rs142983293 0.00036
NM_001386125.1(OBSCN):c.21300G>A (p.Lys7100=) rs371126427 0.00033
NM_001386125.1(OBSCN):c.5122C>T (p.Arg1708Cys) rs200077731 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.10654G>A (p.Asp3552Asn) rs201332233 0.00028
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.16296G>A (p.Pro5432=) rs371306585 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.20021G>A (p.Ser6674Asn) rs376194851 0.00019
NM_001386125.1(OBSCN):c.3099A>G (p.Thr1033=) rs202097101 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.14666A>G (p.Asn4889Ser) rs367928931 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.26563G>A (p.Val8855Met) rs769113229 0.00014
NM_001386125.1(OBSCN):c.7896C>T (p.Ile2632=) rs372936044 0.00014
NM_001386125.1(OBSCN):c.3185C>T (p.Ser1062Phe) rs200058427 0.00013
NM_001386125.1(OBSCN):c.19935C>T (p.Asp6645=) rs372819606 0.00012
NM_001386125.1(OBSCN):c.6649C>T (p.Arg2217Cys) rs373361224 0.00012
NM_001386125.1(OBSCN):c.17133G>A (p.Thr5711=) rs372921390 0.00011
NM_001386125.1(OBSCN):c.17689G>A (p.Asp5897Asn) rs199580904 0.00011
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.26600+8G>T rs935222302 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.15948C>T (p.Phe5316=) rs762128515 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.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.11098+9C>T rs371620989 0.00004
NM_001386125.1(OBSCN):c.14555C>T (p.Pro4852Leu) rs201366506 0.00004
NM_001386125.1(OBSCN):c.14778T>C (p.Ser4926=) rs748988016 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.2095+7G>A rs777774864 0.00004
NM_001386125.1(OBSCN):c.21019+9C>T rs369310498 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.9499A>G (p.Ile3167Val) rs764679750 0.00004
NM_001386125.1(OBSCN):c.18838G>A (p.Val6280Ile) rs539076050 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.16314T>G (p.Thr5438=) rs1558320744 0.00001
NM_001386125.1(OBSCN):c.19701C>T (p.Asp6567=) rs1329204269 0.00001
NM_001386125.1(OBSCN):c.21135C>T (p.Phe7045=) rs957676244 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_001271223.2(OBSCN):c.16157dup
NM_001386125.1(OBSCN):c.10024+10G>T
NM_001386125.1(OBSCN):c.10200G>C (p.Arg3400=)
NM_001386125.1(OBSCN):c.10407G>A (p.Leu3469=)
NM_001386125.1(OBSCN):c.10443G>A (p.Glu3481=) rs762381225
NM_001386125.1(OBSCN):c.10464del (p.Tyr3489fs)
NM_001386125.1(OBSCN):c.10511C>T (p.Thr3504Ile)
NM_001386125.1(OBSCN):c.10616del (p.Gly3539fs)
NM_001386125.1(OBSCN):c.10633G>A (p.Val3545Met)
NM_001386125.1(OBSCN):c.10658T>C (p.Ile3553Thr)
NM_001386125.1(OBSCN):c.10689C>G (p.Thr3563=)
NM_001386125.1(OBSCN):c.10977C>G (p.Tyr3659Ter)
NM_001386125.1(OBSCN):c.11034G>C (p.Gln3678His)
NM_001386125.1(OBSCN):c.11185G>A (p.Ala3729Thr)
NM_001386125.1(OBSCN):c.1120del (p.Ala374fs)
NM_001386125.1(OBSCN):c.11362C>A (p.Pro3788Thr)
NM_001386125.1(OBSCN):c.11403_11404delinsTT (p.Glu3801_Ser3802delinsAspCys)
NM_001386125.1(OBSCN):c.11451G>A (p.Ala3817=)
NM_001386125.1(OBSCN):c.11581T>C (p.Cys3861Arg)
NM_001386125.1(OBSCN):c.11626+1G>A
NM_001386125.1(OBSCN):c.11626+4A>G
NM_001386125.1(OBSCN):c.11670C>T (p.Ala3890=)
NM_001386125.1(OBSCN):c.11949A>G (p.Thr3983=)
NM_001386125.1(OBSCN):c.11986G>C (p.Val3996Leu) rs78661188
NM_001386125.1(OBSCN):c.1201G>T (p.Val401Leu)
NM_001386125.1(OBSCN):c.12126G>C (p.Glu4042Asp)
NM_001386125.1(OBSCN):c.1213G>T (p.Glu405Ter)
NM_001386125.1(OBSCN):c.12151_12152del (p.Arg4051fs)
NM_001386125.1(OBSCN):c.12234G>A (p.Leu4078=)
NM_001386125.1(OBSCN):c.12244_12245delinsTT (p.Ala4082Phe)
NM_001386125.1(OBSCN):c.12338G>A (p.Arg4113His)
NM_001386125.1(OBSCN):c.12396_12402del (p.Ser4133fs)
NM_001386125.1(OBSCN):c.12463A>C (p.Thr4155Pro)
NM_001386125.1(OBSCN):c.12576C>T (p.Asp4192=)
NM_001386125.1(OBSCN):c.1258+6CGGGGCGGGGCA[3]
NM_001386125.1(OBSCN):c.12594G>C (p.Leu4198=)
NM_001386125.1(OBSCN):c.12783G>C (p.Glu4261Asp)
NM_001386125.1(OBSCN):c.12792G>A (p.Lys4264=)
NM_001386125.1(OBSCN):c.12831G>C (p.Leu4277=)
NM_001386125.1(OBSCN):c.12943_12944del (p.Arg4315fs)
NM_001386125.1(OBSCN):c.13564G>A (p.Ala4522Thr)
NM_001386125.1(OBSCN):c.13569C>T (p.Pro4523=)
NM_001386125.1(OBSCN):c.14124C>T (p.Thr4708=)
NM_001386125.1(OBSCN):c.14223C>T (p.Cys4741=)
NM_001386125.1(OBSCN):c.14224G>A (p.Val4742Met)
NM_001386125.1(OBSCN):c.14258C>T (p.Thr4753Met)
NM_001386125.1(OBSCN):c.14325G>A (p.Thr4775=)
NM_001386125.1(OBSCN):c.1447T>C (p.Cys483Arg)
NM_001386125.1(OBSCN):c.14599_14605del (p.Gln4867fs)
NM_001386125.1(OBSCN):c.14731dup (p.Glu4911fs)
NM_001386125.1(OBSCN):c.14809C>T (p.Arg4937Trp)
NM_001386125.1(OBSCN):c.14892G>A (p.Ala4964=)
NM_001386125.1(OBSCN):c.14934T>C (p.Cys4978=)
NM_001386125.1(OBSCN):c.14986G>A (p.Gly4996Arg)
NM_001386125.1(OBSCN):c.15015C>A (p.Tyr5005Ter)
NM_001386125.1(OBSCN):c.1505A>G (p.Gln502Arg) rs1771487
NM_001386125.1(OBSCN):c.15165C>T (p.Ala5055=)
NM_001386125.1(OBSCN):c.15203del (p.Ala5068fs)
NM_001386125.1(OBSCN):c.15261A>T (p.Gln5087His)
NM_001386125.1(OBSCN):c.15278C>T (p.Thr5093Met)
NM_001386125.1(OBSCN):c.15282C>T (p.Gly5094=)
NM_001386125.1(OBSCN):c.1537C>T (p.Leu513=)
NM_001386125.1(OBSCN):c.15540G>A (p.Thr5180=)
NM_001386125.1(OBSCN):c.15549C>T (p.Asp5183=)
NM_001386125.1(OBSCN):c.15852G>A (p.Thr5284=) rs370387618
NM_001386125.1(OBSCN):c.16002C>T (p.Asp5334=)
NM_001386125.1(OBSCN):c.16013A>G (p.His5338Arg)
NM_001386125.1(OBSCN):c.16047G>A (p.Glu5349=)
NM_001386125.1(OBSCN):c.16116G>C (p.Leu5372=)
NM_001386125.1(OBSCN):c.16219T>C (p.Cys5407Arg)
NM_001386125.1(OBSCN):c.16338C>A (p.His5446Gln)
NM_001386125.1(OBSCN):c.16338C>T (p.His5446=) rs61825301
NM_001386125.1(OBSCN):c.16339G>A (p.Ala5447Thr)
NM_001386125.1(OBSCN):c.16416G>A (p.Ala5472=)
NM_001386125.1(OBSCN):c.16417C>T (p.Arg5473Trp)
NM_001386125.1(OBSCN):c.16432+18_16432+19insCCCT
NM_001386125.1(OBSCN):c.16472G>A (p.Arg5491His)
NM_001386125.1(OBSCN):c.16544G>A (p.Arg5515His)
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.16867G>A (p.Gly5623Ser)
NM_001386125.1(OBSCN):c.1692C>T (p.His564=)
NM_001386125.1(OBSCN):c.16982C>T (p.Pro5661Leu)
NM_001386125.1(OBSCN):c.17056G>T (p.Glu5686Ter)
NM_001386125.1(OBSCN):c.17235G>A (p.Thr5745=)
NM_001386125.1(OBSCN):c.1725C>G (p.Thr575=)
NM_001386125.1(OBSCN):c.17373+12del rs111916885
NM_001386125.1(OBSCN):c.17438G>A (p.Arg5813His)
NM_001386125.1(OBSCN):c.17537G>A (p.Arg5846Gln)
NM_001386125.1(OBSCN):c.17566dup (p.Met5856fs)
NM_001386125.1(OBSCN):c.1763G>A (p.Arg588Gln)
NM_001386125.1(OBSCN):c.17688C>T (p.Thr5896=)
NM_001386125.1(OBSCN):c.17696G>A (p.Arg5899Gln)
NM_001386125.1(OBSCN):c.17726G>A (p.Gly5909Asp)
NM_001386125.1(OBSCN):c.17756A>G (p.Asp5919Gly)
NM_001386125.1(OBSCN):c.17759G>A (p.Arg5920His)
NM_001386125.1(OBSCN):c.17917C>T (p.Arg5973Trp)
NM_001386125.1(OBSCN):c.17926C>T (p.Arg5976Cys)
NM_001386125.1(OBSCN):c.17956GAG[1] (p.Glu5987del)
NM_001386125.1(OBSCN):c.18009G>A (p.Ala6003=)
NM_001386125.1(OBSCN):c.18010G>T (p.Asp6004Tyr)
NM_001386125.1(OBSCN):c.18021A>G (p.Thr6007=)
NM_001386125.1(OBSCN):c.18190C>T (p.Pro6064Ser)
NM_001386125.1(OBSCN):c.18199G>T (p.Val6067Leu)
NM_001386125.1(OBSCN):c.18240C>T (p.Asp6080=)
NM_001386125.1(OBSCN):c.18456C>T (p.Gly6152=)
NM_001386125.1(OBSCN):c.18561G>A (p.Thr6187=)
NM_001386125.1(OBSCN):c.18603-20C>T
NM_001386125.1(OBSCN):c.18676C>G (p.Leu6226Val)
NM_001386125.1(OBSCN):c.18720G>A (p.Lys6240=) rs966005685
NM_001386125.1(OBSCN):c.187G>A (p.Asp63Asn)
NM_001386125.1(OBSCN):c.18887T>G (p.Met6296Arg)
NM_001386125.1(OBSCN):c.18985C>T (p.Arg6329Ter)
NM_001386125.1(OBSCN):c.19060C>T (p.Arg6354Cys)
NM_001386125.1(OBSCN):c.19078C>T (p.His6360Tyr)
NM_001386125.1(OBSCN):c.19208C>T (p.Thr6403Ile)
NM_001386125.1(OBSCN):c.19271C>T (p.Ser6424Leu)
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.19394G>T (p.Gly6465Val)
NM_001386125.1(OBSCN):c.19409-14G>A
NM_001386125.1(OBSCN):c.19542G>A (p.Gln6514=)
NM_001386125.1(OBSCN):c.19548C>A (p.Pro6516=)
NM_001386125.1(OBSCN):c.19557C>T (p.Asp6519=)
NM_001386125.1(OBSCN):c.19595G>A (p.Arg6532His)
NM_001386125.1(OBSCN):c.19607C>G (p.Ser6536Ter)
NM_001386125.1(OBSCN):c.19661C>G (p.Ala6554Gly)
NM_001386125.1(OBSCN):c.19672-18C>A
NM_001386125.1(OBSCN):c.19744dup (p.Glu6582fs)
NM_001386125.1(OBSCN):c.19893C>T (p.Ala6631=)
NM_001386125.1(OBSCN):c.20016G>A (p.Leu6672=)
NM_001386125.1(OBSCN):c.20055C>A (p.His6685Gln)
NM_001386125.1(OBSCN):c.20067T>C (p.Ala6689=)
NM_001386125.1(OBSCN):c.20167G>A (p.Asp6723Asn)
NM_001386125.1(OBSCN):c.20294C>T (p.Ala6765Val)
NM_001386125.1(OBSCN):c.20404-8G>A
NM_001386125.1(OBSCN):c.20443G>A (p.Ala6815Thr)
NM_001386125.1(OBSCN):c.20563C>T (p.Arg6855Cys)
NM_001386125.1(OBSCN):c.20728-9C>A
NM_001386125.1(OBSCN):c.21123G>A (p.Gln7041=)
NM_001386125.1(OBSCN):c.21243C>T (p.Asp7081=)
NM_001386125.1(OBSCN):c.21282G>T (p.Pro7094=) rs372931114
NM_001386125.1(OBSCN):c.21291-40G>T
NM_001386125.1(OBSCN):c.21392del (p.Lys7131fs)
NM_001386125.1(OBSCN):c.21421-2A>G
NM_001386125.1(OBSCN):c.2143G>A (p.Glu715Lys)
NM_001386125.1(OBSCN):c.21456G>A (p.Ala7152=)
NM_001386125.1(OBSCN):c.21508G>A (p.Glu7170Lys)
NM_001386125.1(OBSCN):c.21532+3106A>G
NM_001386125.1(OBSCN):c.21533-1902C>T
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.21533-2450G>C
NM_001386125.1(OBSCN):c.21533-2508C>T
NM_001386125.1(OBSCN):c.21533-2517A>T
NM_001386125.1(OBSCN):c.21533-2661G>A
NM_001386125.1(OBSCN):c.21533-2766G>A
NM_001386125.1(OBSCN):c.21533-2783C>G
NM_001386125.1(OBSCN):c.21533-2835T>G
NM_001386125.1(OBSCN):c.21533-2850G>A rs370580749
NM_001386125.1(OBSCN):c.21533-2873C>T
NM_001386125.1(OBSCN):c.21533-320G>T
NM_001386125.1(OBSCN):c.21533-355dup
NM_001386125.1(OBSCN):c.21551C>G (p.Ala7184Gly)
NM_001386125.1(OBSCN):c.21600G>A (p.Ala7200=)
NM_001386125.1(OBSCN):c.21682C>T (p.Pro7228Ser)
NM_001386125.1(OBSCN):c.21693C>T (p.Thr7231=)
NM_001386125.1(OBSCN):c.21713C>A (p.Ala7238Asp)
NM_001386125.1(OBSCN):c.21725G>A (p.Arg7242Lys)
NM_001386125.1(OBSCN):c.2172G>A (p.Ala724=)
NM_001386125.1(OBSCN):c.21747C>T (p.His7249=)
NM_001386125.1(OBSCN):c.21798T>G (p.Thr7266=)
NM_001386125.1(OBSCN):c.21906A>T (p.Thr7302=)
NM_001386125.1(OBSCN):c.21924G>A (p.Thr7308=)
NM_001386125.1(OBSCN):c.21931G>T (p.Ala7311Ser)
NM_001386125.1(OBSCN):c.21934+4C>T
NM_001386125.1(OBSCN):c.21999C>T (p.Phe7333=)
NM_001386125.1(OBSCN):c.22155C>G (p.Thr7385=)
NM_001386125.1(OBSCN):c.22353C>T (p.Cys7451=)
NM_001386125.1(OBSCN):c.22472G>C (p.Arg7491Pro)
NM_001386125.1(OBSCN):c.22617C>T (p.Gly7539=)
NM_001386125.1(OBSCN):c.22639-20C>T
NM_001386125.1(OBSCN):c.22721C>G (p.Ala7574Gly)
NM_001386125.1(OBSCN):c.22761C>T (p.Val7587=)
NM_001386125.1(OBSCN):c.2279G>A (p.Arg760Gln)
NM_001386125.1(OBSCN):c.22908C>T (p.Arg7636=)
NM_001386125.1(OBSCN):c.22951G>A (p.Ala7651Thr)
NM_001386125.1(OBSCN):c.22974G>A (p.Thr7658=)
NM_001386125.1(OBSCN):c.23056G>A (p.Glu7686Lys)
NM_001386125.1(OBSCN):c.23076C>T (p.Thr7692=)
NM_001386125.1(OBSCN):c.2309G>A (p.Arg770Gln)
NM_001386125.1(OBSCN):c.23102G>A (p.Arg7701Gln)
NM_001386125.1(OBSCN):c.23115+4A>T
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.23284C>T (p.Arg7762Trp)
NM_001386125.1(OBSCN):c.23317C>T (p.His7773Tyr)
NM_001386125.1(OBSCN):c.23344T>G (p.Phe7782Val)
NM_001386125.1(OBSCN):c.23385_23386del (p.Ala7795_Ser7796insTer)
NM_001386125.1(OBSCN):c.23399C>T (p.Thr7800Ile)
NM_001386125.1(OBSCN):c.23436C>T (p.Ala7812=)
NM_001386125.1(OBSCN):c.23616C>A (p.Arg7872=)
NM_001386125.1(OBSCN):c.23617G>A (p.Glu7873Lys)
NM_001386125.1(OBSCN):c.23661G>C (p.Arg7887Ser)
NM_001386125.1(OBSCN):c.23668C>T (p.Gln7890Ter) rs1574014043
NM_001386125.1(OBSCN):c.23691C>T (p.Ala7897=)
NM_001386125.1(OBSCN):c.23713C>T (p.Arg7905Trp) rs781573745
NM_001386125.1(OBSCN):c.2375A>G (p.Gln792Arg)
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.2387G>A (p.Arg796His)
NM_001386125.1(OBSCN):c.23883dup (p.Lys7962fs)
NM_001386125.1(OBSCN):c.24046G>A (p.Gly8016Ser)
NM_001386125.1(OBSCN):c.24080C>T (p.Pro8027Leu)
NM_001386125.1(OBSCN):c.24112C>A (p.Pro8038Thr)
NM_001386125.1(OBSCN):c.24386C>T (p.Ala8129Val)
NM_001386125.1(OBSCN):c.24415C>T (p.Arg8139Cys)
NM_001386125.1(OBSCN):c.2442G>A (p.Pro814=)
NM_001386125.1(OBSCN):c.2444C>T (p.Ala815Val)
NM_001386125.1(OBSCN):c.24531A>G (p.Ser8177=)
NM_001386125.1(OBSCN):c.24621T>C (p.Ser8207=)
NM_001386125.1(OBSCN):c.24709G>A (p.Val8237Met)
NM_001386125.1(OBSCN):c.2473C>T (p.His825Tyr)
NM_001386125.1(OBSCN):c.24783C>T (p.Pro8261=)
NM_001386125.1(OBSCN):c.2482G>T (p.Val828Leu)
NM_001386125.1(OBSCN):c.24909C>T (p.Ala8303=)
NM_001386125.1(OBSCN):c.25092T>C (p.Asp8364=)
NM_001386125.1(OBSCN):c.25171G>A (p.Glu8391Lys)
NM_001386125.1(OBSCN):c.25174+1G>A
NM_001386125.1(OBSCN):c.25255+17C>T
NM_001386125.1(OBSCN):c.25329G>A (p.Val8443=)
NM_001386125.1(OBSCN):c.25367-1G>C
NM_001386125.1(OBSCN):c.25373C>T (p.Ala8458Val)
NM_001386125.1(OBSCN):c.25431T>C (p.Leu8477=)
NM_001386125.1(OBSCN):c.25519G>A (p.Val8507Ile)
NM_001386125.1(OBSCN):c.25546T>C (p.Ser8516Pro)
NM_001386125.1(OBSCN):c.25566C>T (p.Ile8522=)
NM_001386125.1(OBSCN):c.2556G>T (p.Arg852=)
NM_001386125.1(OBSCN):c.25581G>A (p.Ala8527=)
NM_001386125.1(OBSCN):c.25609G>A (p.Val8537Met)
NM_001386125.1(OBSCN):c.25620C>T (p.Tyr8540=)
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.25852C>T (p.Arg8618Trp)
NM_001386125.1(OBSCN):c.25915C>T (p.Arg8639Cys)
NM_001386125.1(OBSCN):c.25935A>G (p.Gln8645=)
NM_001386125.1(OBSCN):c.25936T>C (p.Cys8646Arg)
NM_001386125.1(OBSCN):c.25953C>T (p.Ser8651=)
NM_001386125.1(OBSCN):c.25954G>A (p.Gly8652Arg)
NM_001386125.1(OBSCN):c.25956G>A (p.Gly8652=)
NM_001386125.1(OBSCN):c.26015G>A (p.Arg8672His)
NM_001386125.1(OBSCN):c.26022C>T (p.Tyr8674=)
NM_001386125.1(OBSCN):c.26042G>A (p.Arg8681His)
NM_001386125.1(OBSCN):c.2614G>A (p.Val872Met)
NM_001386125.1(OBSCN):c.26169C>T (p.Ser8723=)
NM_001386125.1(OBSCN):c.26170G>A (p.Glu8724Lys)
NM_001386125.1(OBSCN):c.2639G>A (p.Arg880Gln)
NM_001386125.1(OBSCN):c.2645G>A (p.Arg882His)
NM_001386125.1(OBSCN):c.2653+8C>T
NM_001386125.1(OBSCN):c.26755C>T (p.His8919Tyr)
NM_001386125.1(OBSCN):c.2997T>C (p.Ser999=)
NM_001386125.1(OBSCN):c.2997_2998inv (p.Ala1000Thr)
NM_001386125.1(OBSCN):c.3040A>T (p.Thr1014Ser)
NM_001386125.1(OBSCN):c.3074G>A (p.Ser1025Asn)
NM_001386125.1(OBSCN):c.3078G>A (p.Ser1026=)
NM_001386125.1(OBSCN):c.315C>T (p.Cys105=)
NM_001386125.1(OBSCN):c.3253C>T (p.Gln1085Ter)
NM_001386125.1(OBSCN):c.3278C>T (p.Thr1093Met)
NM_001386125.1(OBSCN):c.3282G>C (p.Leu1094=)
NM_001386125.1(OBSCN):c.3369G>A (p.Glu1123=)
NM_001386125.1(OBSCN):c.3417A>G (p.Thr1139=)
NM_001386125.1(OBSCN):c.3438C>T (p.Cys1146=)
NM_001386125.1(OBSCN):c.3532G>T (p.Ala1178Ser) rs117147433
NM_001386125.1(OBSCN):c.3540G>A (p.Ala1180=)
NM_001386125.1(OBSCN):c.3585G>A (p.Thr1195=)
NM_001386125.1(OBSCN):c.3702G>A (p.Gly1234=)
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.386T>A (p.Phe129Tyr)
NM_001386125.1(OBSCN):c.3870G>A (p.Thr1290=)
NM_001386125.1(OBSCN):c.387C>A (p.Phe129Leu)
NM_001386125.1(OBSCN):c.4132C>T (p.Gln1378Ter)
NM_001386125.1(OBSCN):c.4172G>C (p.Ser1391Thr)
NM_001386125.1(OBSCN):c.4203G>A (p.Ala1401=)
NM_001386125.1(OBSCN):c.4225G>T (p.Val1409Leu)
NM_001386125.1(OBSCN):c.4225dup (p.Val1409fs)
NM_001386125.1(OBSCN):c.4260C>A (p.Tyr1420Ter)
NM_001386125.1(OBSCN):c.4362C>T (p.Ala1454=)
NM_001386125.1(OBSCN):c.4382C>T (p.Thr1461Met)
NM_001386125.1(OBSCN):c.4416G>A (p.Glu1472=)
NM_001386125.1(OBSCN):c.4465C>T (p.Arg1489Ter)
NM_001386125.1(OBSCN):c.449T>G (p.Leu150Arg)
NM_001386125.1(OBSCN):c.4799T>A (p.Val1600Asp)
NM_001386125.1(OBSCN):c.4818C>T (p.Cys1606=)
NM_001386125.1(OBSCN):c.4872G>A (p.Ala1624=)
NM_001386125.1(OBSCN):c.496G>A (p.Ala166Thr)
NM_001386125.1(OBSCN):c.509G>C (p.Arg170Pro)
NM_001386125.1(OBSCN):c.5123G>A (p.Arg1708His)
NM_001386125.1(OBSCN):c.5147C>T (p.Ala1716Val)
NM_001386125.1(OBSCN):c.5148G>A (p.Ala1716=)
NM_001386125.1(OBSCN):c.5157C>T (p.Ala1719=)
NM_001386125.1(OBSCN):c.5195C>T (p.Ala1732Val)
NM_001386125.1(OBSCN):c.531C>T (p.Arg177=)
NM_001386125.1(OBSCN):c.5337G>C (p.Glu1779Asp)
NM_001386125.1(OBSCN):c.5353G>A (p.Ala1785Thr)
NM_001386125.1(OBSCN):c.5355C>T (p.Ala1785=)
NM_001386125.1(OBSCN):c.5472G>A (p.Ala1824=)
NM_001386125.1(OBSCN):c.557C>A (p.Ala186Asp)
NM_001386125.1(OBSCN):c.5599C>G (p.Leu1867Val)
NM_001386125.1(OBSCN):c.5734G>C (p.Asp1912His)
NM_001386125.1(OBSCN):c.6109G>A (p.Asp2037Asn)
NM_001386125.1(OBSCN):c.6111C>G (p.Asp2037Glu)
NM_001386125.1(OBSCN):c.6253C>T (p.His2085Tyr)
NM_001386125.1(OBSCN):c.6296G>A (p.Arg2099His)
NM_001386125.1(OBSCN):c.6313del (p.Val2105fs)
NM_001386125.1(OBSCN):c.6484G>A (p.Ala2162Thr)
NM_001386125.1(OBSCN):c.651C>A (p.Ala217=)
NM_001386125.1(OBSCN):c.6541+8G>A
NM_001386125.1(OBSCN):c.6737G>A (p.Arg2246His)
NM_001386125.1(OBSCN):c.6858G>A (p.Glu2286=) rs1572730804
NM_001386125.1(OBSCN):c.6868G>A (p.Glu2290Lys)
NM_001386125.1(OBSCN):c.6913G>T (p.Val2305Leu)
NM_001386125.1(OBSCN):c.7019C>T (p.Ala2340Val)
NM_001386125.1(OBSCN):c.7078+1G>T
NM_001386125.1(OBSCN):c.7079-13C>G
NM_001386125.1(OBSCN):c.7206G>A (p.Leu2402=)
NM_001386125.1(OBSCN):c.7298G>T (p.Gly2433Val)
NM_001386125.1(OBSCN):c.7498G>T (p.Ala2500Ser)
NM_001386125.1(OBSCN):c.7511C>G (p.Pro2504Arg)
NM_001386125.1(OBSCN):c.7530C>T (p.Leu2510=)
NM_001386125.1(OBSCN):c.7573del (p.Ala2525fs)
NM_001386125.1(OBSCN):c.7612+1G>T
NM_001386125.1(OBSCN):c.7612G>C (p.Glu2538Gln)
NM_001386125.1(OBSCN):c.7620C>G (p.Pro2540=)
NM_001386125.1(OBSCN):c.7633C>T (p.Arg2545Cys)
NM_001386125.1(OBSCN):c.7695G>A (p.Ser2565=)
NM_001386125.1(OBSCN):c.7725+18C>G
NM_001386125.1(OBSCN):c.7726-19C>G
NM_001386125.1(OBSCN):c.7743G>A (p.Arg2581=)
NM_001386125.1(OBSCN):c.7806C>T (p.Cys2602=)
NM_001386125.1(OBSCN):c.7839T>C (p.Asp2613=)
NM_001386125.1(OBSCN):c.8103T>G (p.Phe2701Leu)
NM_001386125.1(OBSCN):c.8125C>G (p.Arg2709Gly)
NM_001386125.1(OBSCN):c.8414-14C>T
NM_001386125.1(OBSCN):c.8414A>G (p.Glu2805Gly)
NM_001386125.1(OBSCN):c.847C>A (p.Arg283Ser)
NM_001386125.1(OBSCN):c.8556G>A (p.Gly2852=)
NM_001386125.1(OBSCN):c.8657G>A (p.Arg2886His)
NM_001386125.1(OBSCN):c.8805G>A (p.Thr2935=)
NM_001386125.1(OBSCN):c.8850G>A (p.Gln2950=)
NM_001386125.1(OBSCN):c.8873G>A (p.Arg2958Gln)
NM_001386125.1(OBSCN):c.8997G>A (p.Thr2999=)
NM_001386125.1(OBSCN):c.9140G>A (p.Ser3047Asn)
NM_001386125.1(OBSCN):c.9231G>A (p.Val3077=)
NM_001386125.1(OBSCN):c.9306C>G (p.Pro3102=) rs186845111
NM_001386125.1(OBSCN):c.9336C>T (p.Gly3112=)
NM_001386125.1(OBSCN):c.9427G>C (p.Gly3143Arg) rs370234174
NM_001386125.1(OBSCN):c.9434_9438del (p.Tyr3145fs)
NM_001386125.1(OBSCN):c.9445G>A (p.Val3149Met)
NM_001386125.1(OBSCN):c.9469C>T (p.Arg3157Trp)
NM_001386125.1(OBSCN):c.9558_9559insT (p.Val3187fs)
NM_001386125.1(OBSCN):c.962A>G (p.Tyr321Cys)
NM_001386125.1(OBSCN):c.9652G>C (p.Gly3218Arg)
NM_001386125.1(OBSCN):c.9677G>A (p.Arg3226Gln)
NM_001386125.1(OBSCN):c.9712T>G (p.Phe3238Val)
NM_001386125.1(OBSCN):c.9721C>T (p.Arg3241Trp)
NM_001386125.1(OBSCN):c.9754_9755delinsTT (p.Arg3252Leu)
NM_001386125.1(OBSCN):c.9790G>T (p.Asp3264Tyr)
NM_001386125.1(OBSCN):c.989-7C>G

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.