ClinVar Miner

List of variants in gene C17orf107, CHRNE studied for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 669
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.917+15C>G rs12942540 0.16257
NM_000080.4(CHRNE):c.46+64G>A rs12602789 0.08447
NM_000080.4(CHRNE):c.345-7C>T rs72835059 0.07330
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_000080.4(CHRNE):c.-8G>A rs77481135 0.03561
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587 0.02026
NM_000080.4(CHRNE):c.918-6C>G rs141408756 0.00277
NM_000080.4(CHRNE):c.344+18C>T rs201821934 0.00145
NM_000080.4(CHRNE):c.918-14T>C rs375376258 0.00131
NM_000080.4(CHRNE):c.555C>T (p.Asp185=) rs137952354 0.00096
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_000080.4(CHRNE):c.46+20G>A rs368007857 0.00032
NM_000080.4(CHRNE):c.66C>T (p.Asn22=) rs55770091 0.00031
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050 0.00026
NM_000080.4(CHRNE):c.46+5G>A rs375802288 0.00025
NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser) rs764960076 0.00019
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) rs142735836 0.00014
NM_000080.4(CHRNE):c.699G>A (p.Ser233=) rs375146171 0.00011
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803 0.00010
NM_000080.4(CHRNE):c.671G>A (p.Gly224Asp) rs141183965 0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105 0.00009
NM_000080.4(CHRNE):c.768C>T (p.Gly256=) rs372509633 0.00009
NM_001145536.2(C17orf107):c.*1565G>A rs756213541 0.00009
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207 0.00008
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala) rs774407731 0.00008
NM_001145536.2(C17orf107):c.*1566G>A rs369060595 0.00008
NM_000080.4(CHRNE):c.174G>A (p.Thr58=) rs373275223 0.00006
NM_000080.4(CHRNE):c.406G>A (p.Val136Met) rs773822199 0.00006
NM_000080.4(CHRNE):c.480G>A (p.Gln160=) rs754300536 0.00006
NM_000080.4(CHRNE):c.726C>T (p.Phe242=) rs150133823 0.00006
NM_000080.4(CHRNE):c.804C>T (p.Ala268=) rs775149431 0.00006
NM_000080.4(CHRNE):c.948G>A (p.Thr316=) rs144207552 0.00006
NM_000080.4(CHRNE):c.462C>T (p.Tyr154=) rs781427923 0.00005
NM_000080.4(CHRNE):c.15G>A (p.Pro5=) rs756933520 0.00004
NM_000080.4(CHRNE):c.46+8C>T rs371778870 0.00004
NM_000080.4(CHRNE):c.543C>G (p.Ala181=) rs766195083 0.00004
NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala) rs1336284577 0.00004
NM_000080.4(CHRNE):c.780C>T (p.Leu260=) rs766792066 0.00004
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser) rs762509943 0.00004
NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser) rs745821689 0.00004
NM_000080.4(CHRNE):c.947C>T (p.Thr316Met) rs146533655 0.00004
NM_000080.4(CHRNE):c.951C>T (p.Leu317=) rs757563966 0.00004
NM_001145536.2(C17orf107):c.*2079G>A rs1415170062 0.00004
NM_000080.4(CHRNE):c.-95G>A rs990457690 0.00003
NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg) rs375652301 0.00003
NM_000080.4(CHRNE):c.802+7A>C rs756213406 0.00003
NM_001145536.2(C17orf107):c.*2083C>T rs906477326 0.00003
NM_001145536.2(C17orf107):c.*982G>A rs1175424462 0.00003
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp) rs754001856 0.00002
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe) rs746521766 0.00002
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00002
NM_000080.4(CHRNE):c.235-5C>T rs371818740 0.00002
NM_000080.4(CHRNE):c.237T>C (p.Asp79=) rs777458923 0.00002
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768 0.00002
NM_000080.4(CHRNE):c.325G>A (p.Glu109Lys) rs779426416 0.00002
NM_000080.4(CHRNE):c.329T>C (p.Ile110Thr) rs1276426047 0.00002
NM_000080.4(CHRNE):c.360C>T (p.Phe120=) rs140042356 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000080.4(CHRNE):c.510G>A (p.Thr170=) rs749454549 0.00002
NM_000080.4(CHRNE):c.557G>A (p.Gly186Asp) rs1279921545 0.00002
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser) rs753756406 0.00002
NM_000080.4(CHRNE):c.705C>G (p.Ile235Met) rs748765369 0.00002
NM_000080.4(CHRNE):c.720G>T (p.Pro240=) rs1049141147 0.00002
NM_000080.4(CHRNE):c.756G>A (p.Val252=) rs756407780 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NM_000080.4(CHRNE):c.819C>T (p.Cys273=) rs887770442 0.00002
NM_000080.4(CHRNE):c.852C>T (p.Thr284=) rs770586668 0.00002
NM_000080.4(CHRNE):c.883C>T (p.Pro295Ser) rs61735425 0.00002
NM_000080.4(CHRNE):c.906G>A (p.Pro302=) rs374156332 0.00002
NM_001145536.2(C17orf107):c.*2235G>A rs753134441 0.00002
NM_000080.4(CHRNE):c.-96C>T rs748144899 0.00001
NM_000080.4(CHRNE):c.180C>T (p.Leu60=) rs1486738510 0.00001
NM_000080.4(CHRNE):c.183C>T (p.Ile61=) rs761677000 0.00001
NM_000080.4(CHRNE):c.195A>G (p.Glu65=) rs1334272633 0.00001
NM_000080.4(CHRNE):c.204G>A (p.Glu68=) rs1970025417 0.00001
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg) rs1344336890 0.00001
NM_000080.4(CHRNE):c.311T>C (p.Leu104Pro) rs772495418 0.00001
NM_000080.4(CHRNE):c.312C>T (p.Leu104=) rs1341141356 0.00001
NM_000080.4(CHRNE):c.345T>A (p.Asn115Lys) rs1388515362 0.00001
NM_000080.4(CHRNE):c.357G>A (p.Gln119=) rs747638974 0.00001
NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser) rs771356927 0.00001
NM_000080.4(CHRNE):c.362G>T (p.Gly121Val) rs746582621 0.00001
NM_000080.4(CHRNE):c.372C>T (p.Tyr124=) rs894382905 0.00001
NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn) rs1056080125 0.00001
NM_000080.4(CHRNE):c.39G>T (p.Gly13=) rs1247743244 0.00001
NM_000080.4(CHRNE):c.405C>T (p.Ser135=) rs1174619470 0.00001
NM_000080.4(CHRNE):c.420T>C (p.Pro140=) rs886038226 0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu) rs121909512 0.00001
NM_000080.4(CHRNE):c.428T>C (p.Ile143Thr) rs1484300953 0.00001
NM_000080.4(CHRNE):c.435C>T (p.Arg145=) rs1194731229 0.00001
NM_000080.4(CHRNE):c.441C>A (p.Val147=) rs779058823 0.00001
NM_000080.4(CHRNE):c.46+4_46+8del rs1388295687 0.00001
NM_000080.4(CHRNE):c.468C>T (p.Pro156=) rs751830305 0.00001
NM_000080.4(CHRNE):c.46G>A (p.Gly16Ser) rs764552360 0.00001
NM_000080.4(CHRNE):c.474T>C (p.Asp158=) rs150868720 0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_000080.4(CHRNE):c.516T>C (p.Asn172=) rs143410438 0.00001
NM_000080.4(CHRNE):c.520G>A (p.Glu174Lys) rs1597620368 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000080.4(CHRNE):c.534C>T (p.Phe178=) rs1246145838 0.00001
NM_000080.4(CHRNE):c.544G>C (p.Val182Leu) rs1198430909 0.00001
NM_000080.4(CHRNE):c.580A>T (p.Ile194Phe) rs1020146692 0.00001
NM_000080.4(CHRNE):c.585C>T (p.Asp195=) rs954677814 0.00001
NM_000080.4(CHRNE):c.588A>C (p.Thr196=) rs763114306 0.00001
NM_000080.4(CHRNE):c.591G>A (p.Glu197=) rs1969984066 0.00001
NM_000080.4(CHRNE):c.637G>A (p.Val213Met) rs1174721586 0.00001
NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys) rs577641512 0.00001
NM_000080.4(CHRNE):c.647G>A (p.Arg216His) rs1359029030 0.00001
NM_000080.4(CHRNE):c.654C>G (p.His218Gln) rs751388919 0.00001
NM_000080.4(CHRNE):c.669C>T (p.Asp223=) rs1463132688 0.00001
NM_000080.4(CHRNE):c.691A>G (p.Ile231Val) rs1226552673 0.00001
NM_000080.4(CHRNE):c.702C>G (p.Leu234=) rs1344473749 0.00001
NM_000080.4(CHRNE):c.706A>C (p.Ile236Leu) rs145522662 0.00001
NM_000080.4(CHRNE):c.723C>T (p.Leu241=) rs886053126 0.00001
NM_000080.4(CHRNE):c.73C>T (p.Leu25=) rs1970032941 0.00001
NM_000080.4(CHRNE):c.744C>T (p.Ile248=) rs1288770447 0.00001
NM_000080.4(CHRNE):c.745G>A (p.Val249Met) rs757421529 0.00001
NM_000080.4(CHRNE):c.762C>T (p.Ile254=) rs752926340 0.00001
NM_000080.4(CHRNE):c.76C>T (p.Arg26Cys) rs773131873 0.00001
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg) rs759226183 0.00001
NM_000080.4(CHRNE):c.795G>A (p.Pro265=) rs1567638559 0.00001
NM_000080.4(CHRNE):c.7A>G (p.Arg3Gly) rs201118080 0.00001
NM_000080.4(CHRNE):c.831C>T (p.Ile277=) rs755170993 0.00001
NM_000080.4(CHRNE):c.846C>G (p.Ala282=) rs780429979 0.00001
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter) rs748103983 0.00001
NM_000080.4(CHRNE):c.856T>G (p.Phe286Val) rs756844933 0.00001
NM_000080.4(CHRNE):c.859T>C (p.Leu287=) rs1969957668 0.00001
NM_000080.4(CHRNE):c.867C>G (p.Leu289=) rs763590279 0.00001
NM_000080.4(CHRNE):c.873C>A (p.Ala291=) rs1326940305 0.00001
NM_000080.4(CHRNE):c.900C>T (p.Ser300=) rs747224472 0.00001
NM_000080.4(CHRNE):c.945C>T (p.Ala315=) rs758560981 0.00001
NM_001145536.2(C17orf107):c.*1801G>T rs374325420 0.00001
NM_001145536.2(C17orf107):c.*2240G>A rs761183088 0.00001
NM_001145536.2(C17orf107):c.*251C>A rs754325287 0.00001
NM_001145536.2(C17orf107):c.*252G>T rs1337368697 0.00001
NM_001145536.2(C17orf107):c.*380G>A rs961218388 0.00001
NM_001145536.2(C17orf107):c.*381G>A rs1314331863 0.00001
NM_001145536.2(C17orf107):c.*382G>A rs760314762 0.00001
NM_001145536.2(C17orf107):c.*666C>T rs1382185555 0.00001
NM_001145536.2(C17orf107):c.-164G>C rs771664527 0.00001
NC_000017.10:g.(?_4804800)_(4806078_?)dup
NC_000017.10:g.(?_4805539)_(4806690_?)del
NC_000017.11:g.(?_4901641)_(4903159_?)del
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter) rs2151098928
NM_000080.4(CHRNE):c.105T>C (p.Tyr35=) rs2151098928
NM_000080.4(CHRNE):c.107A>C (p.Asp36Ala) rs886053127
NM_000080.4(CHRNE):c.108C>T (p.Asp36=)
NM_000080.4(CHRNE):c.114_118dup (p.Arg40fs) rs2151098905
NM_000080.4(CHRNE):c.115dup (p.Ser39fs) rs977512223
NM_000080.4(CHRNE):c.117C>T (p.Ser39=) rs1970031660
NM_000080.4(CHRNE):c.11_14dup (p.Leu6fs)
NM_000080.4(CHRNE):c.121C>T (p.Pro41Ser)
NM_000080.4(CHRNE):c.126G>A (p.Val42=)
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.132G>A (p.Glu44=) rs2151098887
NM_000080.4(CHRNE):c.137A>G (p.Glu46Gly)
NM_000080.4(CHRNE):c.138G>A (p.Glu46=) rs2151098883
NM_000080.4(CHRNE):c.141T>C (p.Asp47=)
NM_000080.4(CHRNE):c.147C>T (p.Val49=)
NM_000080.4(CHRNE):c.150C>T (p.Thr50=) rs2151098879
NM_000080.4(CHRNE):c.154_155insTCAGGTGACATACTGAGGATGACATACTGTCATCCG (p.Ser52delinsIleArgTer) rs2151098875
NM_000080.4(CHRNE):c.155G>A (p.Ser52Asn)
NM_000080.4(CHRNE):c.159C>G (p.Leu53=)
NM_000080.4(CHRNE):c.159C>T (p.Leu53=) rs1970030477
NM_000080.4(CHRNE):c.176A>T (p.Asn59Ile)
NM_000080.4(CHRNE):c.177T>C (p.Asn59=)
NM_000080.4(CHRNE):c.178C>T (p.Leu60Phe)
NM_000080.4(CHRNE):c.181A>G (p.Ile61Val)
NM_000080.4(CHRNE):c.186A>G (p.Ser62=)
NM_000080.4(CHRNE):c.189+1G>A
NM_000080.4(CHRNE):c.189G>A (p.Leu63=)
NM_000080.4(CHRNE):c.190-2A>G
NM_000080.4(CHRNE):c.194A>G (p.Glu65Gly)
NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys) rs149766604
NM_000080.4(CHRNE):c.202G>C (p.Glu68Gln) rs149766604
NM_000080.4(CHRNE):c.207T>A (p.Thr69=)
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)
NM_000080.4(CHRNE):c.210C>G (p.Leu70=) rs750125430
NM_000080.4(CHRNE):c.210C>T (p.Leu70=) rs750125430
NM_000080.4(CHRNE):c.213C>T (p.Thr71=) rs764949297
NM_000080.4(CHRNE):c.216T>G (p.Thr72=)
NM_000080.4(CHRNE):c.219dup (p.Val74fs)
NM_000080.4(CHRNE):c.21G>C (p.Gly7=)
NM_000080.4(CHRNE):c.21G>T (p.Gly7=) rs1166759787
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg) rs193919341
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.235G>C (p.Asp79His) rs1200020913
NM_000080.4(CHRNE):c.235G>T (p.Asp79Tyr) rs1200020913
NM_000080.4(CHRNE):c.240G>A (p.Trp80Ter)
NM_000080.4(CHRNE):c.24C>A (p.Val8=) rs147811172
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter) rs121909513
NM_000080.4(CHRNE):c.250del (p.Arg84fs) rs1555547003
NM_000080.4(CHRNE):c.255C>G (p.Leu85=) rs752486312
NM_000080.4(CHRNE):c.255C>T (p.Leu85=)
NM_000080.4(CHRNE):c.258C>T (p.Asn86=)
NM_000080.4(CHRNE):c.261C>T (p.Tyr87=)
NM_000080.4(CHRNE):c.264C>A (p.Ser88Arg)
NM_000080.4(CHRNE):c.264C>T (p.Ser88=)
NM_000080.4(CHRNE):c.264del (p.Ser88fs)
NM_000080.4(CHRNE):c.267G>A (p.Lys89=)
NM_000080.4(CHRNE):c.270C>T (p.Asp90=)
NM_000080.4(CHRNE):c.27G>A (p.Leu9=)
NM_000080.4(CHRNE):c.281G>T (p.Gly94Val)
NM_000080.4(CHRNE):c.281del (p.Gly94fs)
NM_000080.4(CHRNE):c.282T>C (p.Gly94=)
NM_000080.4(CHRNE):c.293dup (p.Arg99fs)
NM_000080.4(CHRNE):c.294G>T (p.Leu98=)
NM_000080.4(CHRNE):c.295C>A (p.Arg99=) rs1278514080
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter) rs1278514080
NM_000080.4(CHRNE):c.296G>A (p.Arg99Gln)
NM_000080.4(CHRNE):c.297A>C (p.Arg99=) rs2151098555
NM_000080.4(CHRNE):c.297A>G (p.Arg99=)
NM_000080.4(CHRNE):c.301C>G (p.Pro101Ala)
NM_000080.4(CHRNE):c.30C>T (p.Leu10=)
NM_000080.4(CHRNE):c.313G>A (p.Val105Met)
NM_000080.4(CHRNE):c.313_319del (p.Val105fs)
NM_000080.4(CHRNE):c.315G>A (p.Val105=) rs2151098541
NM_000080.4(CHRNE):c.316T>C (p.Trp106Arg)
NM_000080.4(CHRNE):c.316_317del (p.Trp106fs) rs2151098538
NM_000080.4(CHRNE):c.318G>A (p.Trp106Ter)
NM_000080.4(CHRNE):c.327_328dup (p.Ile110fs)
NM_000080.4(CHRNE):c.328A>G (p.Ile110Val)
NM_000080.4(CHRNE):c.333G>T (p.Val111=)
NM_000080.4(CHRNE):c.336G>A (p.Leu112=)
NM_000080.4(CHRNE):c.337G>A (p.Glu113Lys)
NM_000080.4(CHRNE):c.342dup (p.Asn115fs)
NM_000080.4(CHRNE):c.344+1G>A rs879253722
NM_000080.4(CHRNE):c.345-1G>A
NM_000080.4(CHRNE):c.345-2A>G
NM_000080.4(CHRNE):c.345-2A>T rs2151098412
NM_000080.4(CHRNE):c.346dup (p.Ile116fs)
NM_000080.4(CHRNE):c.348T>C (p.Ile116=)
NM_000080.4(CHRNE):c.353G>A (p.Gly118Asp) rs1555546986
NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)
NM_000080.4(CHRNE):c.35T>C (p.Leu12Ser)
NM_000080.4(CHRNE):c.35T>G (p.Leu12Trp)
NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter) rs1187421976
NM_000080.4(CHRNE):c.363A>G (p.Gly121=)
NM_000080.4(CHRNE):c.365T>C (p.Val122Ala)
NM_000080.4(CHRNE):c.366G>A (p.Val122=) rs2151098392
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter) rs894382905
NM_000080.4(CHRNE):c.375C>T (p.Asp125=)
NM_000080.4(CHRNE):c.376_377delinsTT (p.Ala126Phe)
NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr)
NM_000080.4(CHRNE):c.381C>T (p.Asn127=)
NM_000080.4(CHRNE):c.382G>A (p.Val128Met) rs958078989
NM_000080.4(CHRNE):c.384G>A (p.Val128=)
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del) rs1555546980
NM_000080.4(CHRNE):c.385_388del (p.Leu129fs) rs1411229157
NM_000080.4(CHRNE):c.387C>A (p.Leu129=)
NM_000080.4(CHRNE):c.387C>G (p.Leu129=) rs767908282
NM_000080.4(CHRNE):c.387C>T (p.Leu129=) rs767908282
NM_000080.4(CHRNE):c.390C>T (p.Val130=)
NM_000080.4(CHRNE):c.393C>G (p.Tyr131Ter)
NM_000080.4(CHRNE):c.393C>T (p.Tyr131=) rs1567639631
NM_000080.4(CHRNE):c.398G>A (p.Gly133Asp)
NM_000080.4(CHRNE):c.399C>T (p.Gly133=)
NM_000080.4(CHRNE):c.39G>A (p.Gly13=)
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile) rs1970039895
NM_000080.4(CHRNE):c.400G>A (p.Gly134Ser)
NM_000080.4(CHRNE):c.400_403dup (p.Ser135fs)
NM_000080.4(CHRNE):c.404C>G (p.Ser135Cys) rs763181728
NM_000080.4(CHRNE):c.410C>A (p.Thr137Lys) rs146089157
NM_000080.4(CHRNE):c.410C>T (p.Thr137Met) rs146089157
NM_000080.4(CHRNE):c.411G>A (p.Thr137=)
NM_000080.4(CHRNE):c.415C>T (p.Leu139=) rs776129600
NM_000080.4(CHRNE):c.419C>T (p.Pro140Leu)
NM_000080.4(CHRNE):c.41T>A (p.Leu14His)
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr) rs483353045
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala) rs483353045
NM_000080.4(CHRNE):c.426C>T (p.Ala142=) rs1970007044
NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)
NM_000080.4(CHRNE):c.433C>T (p.Arg145Cys) rs1064795871
NM_000080.4(CHRNE):c.438C>T (p.Ser146=) rs776429372
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile) rs771950733
NM_000080.4(CHRNE):c.439_440insGAGGTCA (p.Val147fs) rs2151098295
NM_000080.4(CHRNE):c.441C>T (p.Val147=) rs779058823
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)
NM_000080.4(CHRNE):c.444C>T (p.Cys148=) rs970593355
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs) rs1597621353
NM_000080.4(CHRNE):c.447_459del (p.Val150fs) rs1970005446
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.453_454dup (p.Val152fs)
NM_000080.4(CHRNE):c.455T>A (p.Val152Asp)
NM_000080.4(CHRNE):c.46+11G>A
NM_000080.4(CHRNE):c.46+19G>A
NM_000080.4(CHRNE):c.46+1G>T rs746199600
NM_000080.4(CHRNE):c.46+2del
NM_000080.4(CHRNE):c.46+3A>G
NM_000080.4(CHRNE):c.46+4C>T
NM_000080.4(CHRNE):c.46+9_46+10del rs2151099125
NM_000080.4(CHRNE):c.468C>G (p.Pro156=) rs751830305
NM_000080.4(CHRNE):c.47-11dup rs550750896
NM_000080.4(CHRNE):c.47-1G>A
NM_000080.4(CHRNE):c.477G>A (p.Trp159Ter)
NM_000080.4(CHRNE):c.486T>C (p.Cys162=) rs2151098251
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp) rs121909516
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.489G>A (p.Ser163=) rs2151098246
NM_000080.4(CHRNE):c.489G>T (p.Ser163=)
NM_000080.4(CHRNE):c.48C>T (p.Gly16=)
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys)
NM_000080.4(CHRNE):c.500+2T>C
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.501-16G>A rs879255563
NM_000080.4(CHRNE):c.501-1G>C
NM_000080.4(CHRNE):c.505C>T (p.Gln169Ter)
NM_000080.4(CHRNE):c.506A>G (p.Gln169Arg)
NM_000080.4(CHRNE):c.507G>A (p.Gln169=)
NM_000080.4(CHRNE):c.509C>T (p.Thr170Met)
NM_000080.4(CHRNE):c.510G>T (p.Thr170=) rs749454549
NM_000080.4(CHRNE):c.513C>T (p.Tyr171=) rs1276027772
NM_000080.4(CHRNE):c.515A>G (p.Asn172Ser)
NM_000080.4(CHRNE):c.51G>A (p.Arg17=) rs758923058
NM_000080.4(CHRNE):c.520G>T (p.Glu174Ter)
NM_000080.4(CHRNE):c.528G>A (p.Val176=) rs2151097833
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000080.4(CHRNE):c.52G>A (p.Gly18Ser) rs1970033624
NM_000080.4(CHRNE):c.530_531insCCAC (p.Glu177fs)
NM_000080.4(CHRNE):c.531G>A (p.Glu177=) rs1597620349
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala) rs4790235
NM_000080.4(CHRNE):c.540T>C (p.Phe180=)
NM_000080.4(CHRNE):c.541G>A (p.Ala181Thr)
NM_000080.4(CHRNE):c.543C>T (p.Ala181=)
NM_000080.4(CHRNE):c.546A>G (p.Val182=)
NM_000080.4(CHRNE):c.549C>T (p.Asp183=) rs2151097801
NM_000080.4(CHRNE):c.550A>T (p.Asn184Tyr)
NM_000080.4(CHRNE):c.551dup (p.Asn184fs)
NM_000080.4(CHRNE):c.552C>T (p.Asn184=) rs978516236
NM_000080.4(CHRNE):c.558C>G (p.Gly186=) rs761643342
NM_000080.4(CHRNE):c.560A>T (p.Lys187Met)
NM_000080.4(CHRNE):c.567C>A (p.Ile189=)
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)
NM_000080.4(CHRNE):c.570C>T (p.Asn190=) rs1969985137
NM_000080.4(CHRNE):c.572A>T (p.Lys191Met) rs1555546863
NM_000080.4(CHRNE):c.577G>A (p.Asp193Asn)
NM_000080.4(CHRNE):c.57G>A (p.Val19=)
NM_000080.4(CHRNE):c.582C>A (p.Ile194=) rs2151097756
NM_000080.4(CHRNE):c.583G>A (p.Asp195Asn)
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr) rs774425374
NM_000080.4(CHRNE):c.589G>T (p.Glu197Ter)
NM_000080.4(CHRNE):c.58G>A (p.Gly20Arg)
NM_000080.4(CHRNE):c.590_591del (p.Glu197fs) rs2151097742
NM_000080.4(CHRNE):c.594C>T (p.Ala198=) rs2151097737
NM_000080.4(CHRNE):c.599C>G (p.Thr200Ser) rs1969983733
NM_000080.4(CHRNE):c.601+1G>T
NM_000080.4(CHRNE):c.601+8C>T rs539874157
NM_000080.4(CHRNE):c.602-10C>T rs765175027
NM_000080.4(CHRNE):c.602-1G>A
NM_000080.4(CHRNE):c.602-4_602-3delinsTT rs1597619689
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)
NM_000080.4(CHRNE):c.605del (p.Asn202fs)
NM_000080.4(CHRNE):c.606_619del (p.Gly203fs) rs1969973509
NM_000080.4(CHRNE):c.609C>A (p.Gly203=) rs912870458
NM_000080.4(CHRNE):c.609C>G (p.Gly203=) rs912870458
NM_000080.4(CHRNE):c.609C>T (p.Gly203=)
NM_000080.4(CHRNE):c.60G>A (p.Gly20=) rs2151098969
NM_000080.4(CHRNE):c.612G>A (p.Glu204=)
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs) rs1969972830
NM_000080.4(CHRNE):c.619A>G (p.Ile207Val) rs1422386099
NM_000080.4(CHRNE):c.621C>A (p.Ile207=) rs2151097478
NM_000080.4(CHRNE):c.621C>T (p.Ile207=) rs2151097478
NM_000080.4(CHRNE):c.627C>G (p.Phe209Leu)
NM_000080.4(CHRNE):c.628T>C (p.Cys210Arg) rs2151097468
NM_000080.4(CHRNE):c.62A>G (p.Lys21Arg) rs1970033266
NM_000080.4(CHRNE):c.630C>T (p.Cys210=)
NM_000080.4(CHRNE):c.639G>A (p.Val213=) rs1969972651
NM_000080.4(CHRNE):c.63G>A (p.Lys21=) rs2151098964
NM_000080.4(CHRNE):c.644GCC[3] (p.Arg216_His217insArg)
NM_000080.4(CHRNE):c.645C>T (p.Arg215=) rs2151097437
NM_000080.4(CHRNE):c.647_653dup (p.His218fs) rs2151097420
NM_000080.4(CHRNE):c.648C>T (p.Arg216=) rs2151097429
NM_000080.4(CHRNE):c.651C>T (p.His217=) rs564044217
NM_000080.4(CHRNE):c.653A>C (p.His218Pro)
NM_000080.4(CHRNE):c.653_666dup (p.Asp223fs)
NM_000080.4(CHRNE):c.654C>T (p.His218=) rs751388919
NM_000080.4(CHRNE):c.657T>A (p.Gly219=) rs1969971346
NM_000080.4(CHRNE):c.660C>A (p.Gly220=) rs1969971072
NM_000080.4(CHRNE):c.660C>T (p.Gly220=) rs1969971072
NM_000080.4(CHRNE):c.661G>A (p.Ala221Thr)
NM_000080.4(CHRNE):c.666C>G (p.Thr222=)
NM_000080.4(CHRNE):c.666C>T (p.Thr222=) rs1224426288
NM_000080.4(CHRNE):c.670G>A (p.Gly224Ser)
NM_000080.4(CHRNE):c.672C>A (p.Gly224=) rs2151097392
NM_000080.4(CHRNE):c.673C>A (p.Pro225Thr)
NM_000080.4(CHRNE):c.675A>G (p.Pro225=)
NM_000080.4(CHRNE):c.678G>A (p.Gly226=) rs1431059369
NM_000080.4(CHRNE):c.67G>T (p.Glu23Ter)
NM_000080.4(CHRNE):c.682A>G (p.Thr228Ala)
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) rs1597619440
NM_000080.4(CHRNE):c.686A>T (p.Asp229Val)
NM_000080.4(CHRNE):c.687C>T (p.Asp229=) rs1479728021
NM_000080.4(CHRNE):c.687del (p.Asp229fs)
NM_000080.4(CHRNE):c.690C>A (p.Val230=) rs1597619417
NM_000080.4(CHRNE):c.690C>T (p.Val230=) rs1597619417
NM_000080.4(CHRNE):c.693del (p.Tyr232fs)
NM_000080.4(CHRNE):c.694T>C (p.Tyr232His) rs2151097342
NM_000080.4(CHRNE):c.695_697del (p.Tyr232del)
NM_000080.4(CHRNE):c.696C>A (p.Tyr232Ter)
NM_000080.4(CHRNE):c.696C>T (p.Tyr232=) rs1284899632
NM_000080.4(CHRNE):c.699G>C (p.Ser233=) rs375146171
NM_000080.4(CHRNE):c.702C>A (p.Leu234=)
NM_000080.4(CHRNE):c.705C>A (p.Ile235=) rs748765369
NM_000080.4(CHRNE):c.705C>T (p.Ile235=) rs748765369
NM_000080.4(CHRNE):c.709C>T (p.Arg237Cys)
NM_000080.4(CHRNE):c.710G>A (p.Arg237His) rs201434993
NM_000080.4(CHRNE):c.711C>T (p.Arg237=)
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp) rs1567638676
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln) rs2151097307
NM_000080.4(CHRNE):c.714G>A (p.Arg238=) rs768299579
NM_000080.4(CHRNE):c.717G>A (p.Lys239=)
NM_000080.4(CHRNE):c.720G>A (p.Pro240=)
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe) rs28999110
NM_000080.4(CHRNE):c.725T>G (p.Phe242Cys) rs1969968160
NM_000080.4(CHRNE):c.726del (p.Tyr243fs)
NM_000080.4(CHRNE):c.729C>T (p.Tyr243=)
NM_000080.4(CHRNE):c.72del (p.Glu24fs)
NM_000080.4(CHRNE):c.738C>T (p.Asn246=) rs2151097269
NM_000080.4(CHRNE):c.739ATC[1] (p.Ile248del)
NM_000080.4(CHRNE):c.741C>T (p.Ile247=) rs1969967603
NM_000080.4(CHRNE):c.742A>C (p.Ile248Leu)
NM_000080.4(CHRNE):c.744C>G (p.Ile248Met)
NM_000080.4(CHRNE):c.747G>C (p.Val249=)
NM_000080.4(CHRNE):c.750_751del (p.Val252fs)
NM_000080.4(CHRNE):c.751T>A (p.Cys251Ser) rs867237170
NM_000080.4(CHRNE):c.753T>C (p.Cys251=)
NM_000080.4(CHRNE):c.759C>A (p.Leu253=) rs1969966911
NM_000080.4(CHRNE):c.75G>A (p.Leu25=) rs2151098953
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp)
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu) rs1555546765
NM_000080.4(CHRNE):c.765G>A (p.Ser255=)
NM_000080.4(CHRNE):c.765G>C (p.Ser255=)
NM_000080.4(CHRNE):c.769C>T (p.Leu257=)
NM_000080.4(CHRNE):c.771G>C (p.Leu257=)
NM_000080.4(CHRNE):c.775C>T (p.Leu259=) rs2151097232
NM_000080.4(CHRNE):c.778C>T (p.Leu260Phe) rs1567638591
NM_000080.4(CHRNE):c.77G>A (p.Arg26His) rs188661284
NM_000080.4(CHRNE):c.780C>A (p.Leu260=)
NM_000080.4(CHRNE):c.783C>T (p.Ala261=)
NM_000080.4(CHRNE):c.784T>C (p.Tyr262His)
NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)
NM_000080.4(CHRNE):c.786C>T (p.Tyr262=) rs2151097217
NM_000080.4(CHRNE):c.789C>T (p.Phe263=) rs761487611
NM_000080.4(CHRNE):c.790C>T (p.Leu264=)
NM_000080.4(CHRNE):c.790del (p.Leu264fs)
NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser) rs2151097209
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.794del (p.Pro265fs) rs756675414
NM_000080.4(CHRNE):c.798G>A (p.Ala266=) rs746772722
NM_000080.4(CHRNE):c.798G>C (p.Ala266=) rs746772722
NM_000080.4(CHRNE):c.798G>T (p.Ala266=) rs746772722
NM_000080.4(CHRNE):c.802+1G>A
NM_000080.4(CHRNE):c.802+2T>A
NM_000080.4(CHRNE):c.802+2T>C rs2151097188
NM_000080.4(CHRNE):c.802+9T>C rs199876621
NM_000080.4(CHRNE):c.802G>C (p.Ala268Pro)
NM_000080.4(CHRNE):c.803-1G>T
NM_000080.4(CHRNE):c.807C>T (p.Gly269=)
NM_000080.4(CHRNE):c.808G>A (p.Gly270Ser) rs1447784617
NM_000080.4(CHRNE):c.811C>T (p.Gln271Ter)
NM_000080.4(CHRNE):c.816A>G (p.Lys272=)
NM_000080.4(CHRNE):c.822G>A (p.Thr274=)
NM_000080.4(CHRNE):c.825C>A (p.Val275=)
NM_000080.4(CHRNE):c.828C>T (p.Ser276=) rs1969960127
NM_000080.4(CHRNE):c.829A>G (p.Ile277Val)
NM_000080.4(CHRNE):c.829dup (p.Ile277fs) rs2151097082
NM_000080.4(CHRNE):c.832A>T (p.Asn278Tyr) rs1284578156
NM_000080.4(CHRNE):c.834C>T (p.Asn278=) rs996197218
NM_000080.4(CHRNE):c.835G>T (p.Val279Phe) rs1597618854
NM_000080.4(CHRNE):c.838C>T (p.Leu280=) rs900612569
NM_000080.4(CHRNE):c.846C>T (p.Ala282=)
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter) rs773929089
NM_000080.4(CHRNE):c.848_852dup (p.Val285fs) rs1567638401
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro) rs121909510
NM_000080.4(CHRNE):c.851C>T (p.Thr284Ile)
NM_000080.4(CHRNE):c.851_852delinsAG (p.Thr284Lys)
NM_000080.4(CHRNE):c.852del (p.Val285fs)
NM_000080.4(CHRNE):c.853G>A (p.Val285Ile)
NM_000080.4(CHRNE):c.854T>C (p.Val285Ala) rs1597618787
NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)
NM_000080.4(CHRNE):c.858C>T (p.Phe286=) rs1597618773
NM_000080.4(CHRNE):c.864C>T (p.Phe288=) rs1282925982
NM_000080.4(CHRNE):c.865C>G (p.Leu289Val)
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe) rs121909511
NM_000080.4(CHRNE):c.866del (p.Leu289fs)
NM_000080.4(CHRNE):c.867C>T (p.Leu289=)
NM_000080.4(CHRNE):c.870T>C (p.Ile290=) rs775157123
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
NM_000080.4(CHRNE):c.87C>T (p.His29=) rs1567640279
NM_000080.4(CHRNE):c.880dup (p.Ile294fs)
NM_000080.4(CHRNE):c.883C>G (p.Pro295Ala)
NM_000080.4(CHRNE):c.885A>G (p.Pro295=) rs1597618703
NM_000080.4(CHRNE):c.890C>T (p.Thr297Ile) rs770980262
NM_000080.4(CHRNE):c.891T>G (p.Thr297=) rs1969956471
NM_000080.4(CHRNE):c.891_892insCTCTGGGATT (p.Ser298fs)
NM_000080.4(CHRNE):c.892_894del (p.Ser298del) rs398122830
NM_000080.4(CHRNE):c.894T>G (p.Ser298=) rs2151097016
NM_000080.4(CHRNE):c.895C>T (p.Leu299=) rs2151097014
NM_000080.4(CHRNE):c.897G>A (p.Leu299=) rs2151097007
NM_000080.4(CHRNE):c.899G>C (p.Ser300Thr) rs776585678
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala) rs979787967
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu) rs370019023
NM_000080.4(CHRNE):c.906G>T (p.Pro302=) rs374156332
NM_000080.4(CHRNE):c.909C>G (p.Leu303=)
NM_000080.4(CHRNE):c.915C>A (p.Gly305=) rs992228063
NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly) rs1969955431
NM_000080.4(CHRNE):c.916A>T (p.Arg306Trp)
NM_000080.4(CHRNE):c.917+7C>T rs961101973
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.918-1G>A rs1407243713
NM_000080.4(CHRNE):c.918-8C>T rs1597615600
NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser) rs1453842961
NM_000080.4(CHRNE):c.922del (p.Ile309fs)
NM_000080.4(CHRNE):c.924T>G (p.Leu308=)
NM_000080.4(CHRNE):c.929del (p.Phe310fs)
NM_000080.4(CHRNE):c.933C>G (p.Val311=)
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000080.4(CHRNE):c.948G>C (p.Thr316=)
NM_000080.4(CHRNE):c.948G>T (p.Thr316=) rs144207552
NM_000080.4(CHRNE):c.949C>G (p.Leu317Val)
NM_000080.4(CHRNE):c.951C>G (p.Leu317=) rs757563966
NM_000080.4(CHRNE):c.951_954del (p.Ile318fs)
NM_000080.4(CHRNE):c.957C>A (p.Val319=)
NM_000080.4(CHRNE):c.957C>T (p.Val319=) rs1244564448
NM_000080.4(CHRNE):c.960G>A (p.Met320Ile)
NM_000080.4(CHRNE):c.96C>T (p.Phe32=)
NM_000080.4(CHRNE):c.99C>T (p.Asn33=)
NM_001145536.2(C17orf107):c.*1010C>G rs774425374
NM_001145536.2(C17orf107):c.*1095G>A
NM_001145536.2(C17orf107):c.*1096C>A
NM_001145536.2(C17orf107):c.*1096C>T rs2151097867
NM_001145536.2(C17orf107):c.*1097G>A
NM_001145536.2(C17orf107):c.*1099A>G
NM_001145536.2(C17orf107):c.*1103_*1115dup
NM_001145536.2(C17orf107):c.*1104G>C
NM_001145536.2(C17orf107):c.*1107C>T
NM_001145536.2(C17orf107):c.*1109G>A
NM_001145536.2(C17orf107):c.*1110G>A
NM_001145536.2(C17orf107):c.*1111G>A
NM_001145536.2(C17orf107):c.*1381C>T
NM_001145536.2(C17orf107):c.*1382G>A
NM_001145536.2(C17orf107):c.*1383G>A
NM_001145536.2(C17orf107):c.*1390T>G
NM_001145536.2(C17orf107):c.*1390_*1391delinsAA rs2151098237
NM_001145536.2(C17orf107):c.*1391C>A
NM_001145536.2(C17orf107):c.*1558T>C
NM_001145536.2(C17orf107):c.*1562C>T rs2151098423
NM_001145536.2(C17orf107):c.*1567G>A
NM_001145536.2(C17orf107):c.*1571A>T
NM_001145536.2(C17orf107):c.*1573C>A
NM_001145536.2(C17orf107):c.*1573C>G
NM_001145536.2(C17orf107):c.*1573C>T
NM_001145536.2(C17orf107):c.*1574G>A
NM_001145536.2(C17orf107):c.*1574G>C
NM_001145536.2(C17orf107):c.*1670G>T
NM_001145536.2(C17orf107):c.*1674C>T
NM_001145536.2(C17orf107):c.*1675G>A rs371037732
NM_001145536.2(C17orf107):c.*1675G>C rs371037732
NM_001145536.2(C17orf107):c.*1676G>A rs2151098517
NM_001145536.2(C17orf107):c.*1677T>C
NM_001145536.2(C17orf107):c.*1798G>C
NM_001145536.2(C17orf107):c.*1799G>T
NM_001145536.2(C17orf107):c.*1800G>A
NM_001145536.2(C17orf107):c.*1803G>A rs778566436
NM_001145536.2(C17orf107):c.*1803G>T
NM_001145536.2(C17orf107):c.*1808A>G
NM_001145536.2(C17orf107):c.*1809T>C
NM_001145536.2(C17orf107):c.*1810G>A
NM_001145536.2(C17orf107):c.*1811G>T
NM_001145536.2(C17orf107):c.*1897A>T
NM_001145536.2(C17orf107):c.*1900C>T
NM_001145536.2(C17orf107):c.*1910G>A
NM_001145536.2(C17orf107):c.*1965C>T
NM_001145536.2(C17orf107):c.*1968A>G rs2151098764
NM_001145536.2(C17orf107):c.*1970G>C
NM_001145536.2(C17orf107):c.*1971G>A rs2151098767
NM_001145536.2(C17orf107):c.*1974G>C
NM_001145536.2(C17orf107):c.*1978G>C
NM_001145536.2(C17orf107):c.*2072G>T
NM_001145536.2(C17orf107):c.*2074T>G
NM_001145536.2(C17orf107):c.*2075G>A
NM_001145536.2(C17orf107):c.*2076G>A
NM_001145536.2(C17orf107):c.*2078G>A
NM_001145536.2(C17orf107):c.*2078G>C rs1341882862
NM_001145536.2(C17orf107):c.*2078G>T
NM_001145536.2(C17orf107):c.*2079G>T
NM_001145536.2(C17orf107):c.*2081dup
NM_001145536.2(C17orf107):c.*2234C>T rs767084417
NM_001145536.2(C17orf107):c.*2236A>G
NM_001145536.2(C17orf107):c.*2241G>A
NM_001145536.2(C17orf107):c.*2244A>G
NM_001145536.2(C17orf107):c.*240C>T
NM_001145536.2(C17orf107):c.*241G>T
NM_001145536.2(C17orf107):c.*242C>T
NM_001145536.2(C17orf107):c.*243G>A
NM_001145536.2(C17orf107):c.*243G>C
NM_001145536.2(C17orf107):c.*244G>A
NM_001145536.2(C17orf107):c.*245G>A
NM_001145536.2(C17orf107):c.*247G>A
NM_001145536.2(C17orf107):c.*247dup rs772869952
NM_001145536.2(C17orf107):c.*251C>T rs754325287
NM_001145536.2(C17orf107):c.*252G>A rs1337368697
NM_001145536.2(C17orf107):c.*253G>T
NM_001145536.2(C17orf107):c.*368_*378del
NM_001145536.2(C17orf107):c.*381_*390dup rs767922649
NM_001145536.2(C17orf107):c.*384G>A rs1326169288
NM_001145536.2(C17orf107):c.*384G>C
NM_001145536.2(C17orf107):c.*386G>A
NM_001145536.2(C17orf107):c.*386G>C
NM_001145536.2(C17orf107):c.*386del
NM_001145536.2(C17orf107):c.*388_*397dup
NM_001145536.2(C17orf107):c.*389A>G
NM_001145536.2(C17orf107):c.*390G>T
NM_001145536.2(C17orf107):c.*439T>C
NM_001145536.2(C17orf107):c.*439T>G
NM_001145536.2(C17orf107):c.*441C>T
NM_001145536.2(C17orf107):c.*442G>C
NM_001145536.2(C17orf107):c.*445G>A
NM_001145536.2(C17orf107):c.*447C>T rs2151097179
NM_001145536.2(C17orf107):c.*448A>C rs199876621
NM_001145536.2(C17orf107):c.*661C>A
NM_001145536.2(C17orf107):c.*661C>T
NM_001145536.2(C17orf107):c.*662G>A rs764599384
NM_001145536.2(C17orf107):c.*663G>A
NM_001145536.2(C17orf107):c.*664G>A rs1298446963
NM_001145536.2(C17orf107):c.*664_*665insTC
NM_001145536.2(C17orf107):c.*666C>A rs1382185555
NM_001145536.2(C17orf107):c.*667G>C rs765175027
NM_001145536.2(C17orf107):c.*668G>T
NM_001145536.2(C17orf107):c.*669G>A
NM_001145536.2(C17orf107):c.*670G>A
NM_001145536.2(C17orf107):c.*671G>A
NM_001145536.2(C17orf107):c.*671G>C
NM_001145536.2(C17orf107):c.*671G>T rs202127846
NM_001145536.2(C17orf107):c.*671del rs2151097507
NM_001145536.2(C17orf107):c.*674C>T
NM_001145536.2(C17orf107):c.*675G>A
NM_001145536.2(C17orf107):c.*676G>A
NM_001145536.2(C17orf107):c.*973del
NM_001145536.2(C17orf107):c.*978G>A
NM_001145536.2(C17orf107):c.*978G>C
NM_001145536.2(C17orf107):c.*983G>A rs2151097723
NM_001145536.2(C17orf107):c.*985G>T rs748517215
NM_001145536.2(C17orf107):c.-162A>G
NM_001145536.2(C17orf107):c.-164G>A
NM_001145536.2(C17orf107):c.-164G>T
NM_001145536.2(C17orf107):c.-165G>A
NM_001145536.2(C17orf107):c.-167A>C
NM_001145536.2(C17orf107):c.-168G>A
NM_001145536.2(C17orf107):c.-169G>A
NM_001145536.2(C17orf107):c.-171C>G
NM_001145536.2(C17orf107):c.-172C>T rs2151095352
NM_001145536.2(C17orf107):c.-173G>C rs1597615600
NM_001145536.2(C17orf107):c.-175G>A
NM_001145536.2(C17orf107):c.-176G>A rs1386033276
NM_001145536.2(C17orf107):c.-177A>G rs1300080950
NM_001145536.2(C17orf107):c.562G>C (p.Gly188Arg) rs1490577163

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