ClinVar Miner

List of variants in gene OTOG reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr) rs548278514 0.00127
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His) rs185432248 0.00122
NM_001292063.2(OTOG):c.2868-3C>T rs565665118 0.00093
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.4314C>T (p.Val1438=) rs150138913 0.00088
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001292063.2(OTOG):c.2249G>A (p.Arg750His) rs112634925 0.00071
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val) rs56359117 0.00070
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser) rs368261417 0.00061
NM_001292063.2(OTOG):c.7324C>G (p.Leu2442Val) rs573071858 0.00061
NM_001292063.2(OTOG):c.173C>T (p.Ala58Val) rs572827464 0.00059
NM_001292063.2(OTOG):c.8477G>A (p.Arg2826His) rs544815967 0.00056
NM_001292063.2(OTOG):c.1700G>A (p.Arg567Gln) rs142253169 0.00054
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 0.00054
NM_001292063.2(OTOG):c.2405T>A (p.Leu802Gln) rs144972211 0.00053
NM_001292063.2(OTOG):c.2113A>G (p.Thr705Ala) rs562612507 0.00051
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser) rs543999548 0.00051
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met) rs542442173 0.00051
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp) rs559512010 0.00048
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001292063.2(OTOG):c.1369G>A (p.Val457Met) rs756129872 0.00043
NM_001292063.2(OTOG):c.4900C>A (p.Pro1634Thr) rs569097813 0.00043
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp) rs200215464 0.00040
NM_001292063.2(OTOG):c.5966C>G (p.Ala1989Gly) rs577901245 0.00038
NM_001292063.2(OTOG):c.8428G>A (p.Val2810Met) rs560697197 0.00036
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) rs545321215 0.00035
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser) rs547173007 0.00033
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val) rs114417076 0.00033
NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe) rs557079751 0.00032
NM_001292063.2(OTOG):c.5918C>T (p.Thr1973Met) rs868729716 0.00030
NM_001292063.2(OTOG):c.5432C>T (p.Ala1811Val) rs779658224 0.00029
NM_001292063.2(OTOG):c.6536T>C (p.Val2179Ala) rs770039471 0.00029
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=) rs564595203 0.00026
NM_001292063.2(OTOG):c.6515G>A (p.Arg2172His) rs555068328 0.00026
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001292063.2(OTOG):c.6575G>T (p.Gly2192Val) rs536834261 0.00024
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro) rs778687487 0.00023
NM_001292063.2(OTOG):c.8018C>A (p.Ala2673Asp) rs563948391 0.00023
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001292063.2(OTOG):c.3335A>G (p.Asn1112Ser) rs571215839 0.00021
NM_001292063.2(OTOG):c.920C>T (p.Pro307Leu) rs755684934 0.00021
NM_001292063.2(OTOG):c.2263G>A (p.Val755Ile) rs138477595 0.00020
NM_001292063.2(OTOG):c.3751G>A (p.Gly1251Ser) rs769211682 0.00020
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001292063.2(OTOG):c.1760T>C (p.Ile587Thr) rs751269089 0.00019
NM_001292063.2(OTOG):c.310A>G (p.Asn104Asp) rs750971564 0.00019
NM_001292063.2(OTOG):c.4631G>C (p.Gly1544Ala) rs1014717669 0.00019
NM_001292063.2(OTOG):c.7878C>G (p.Cys2626Trp) rs528655967 0.00019
NM_001292063.2(OTOG):c.1205G>A (p.Arg402Gln) rs753910841 0.00018
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met) rs748497956 0.00018
NM_001292063.2(OTOG):c.93C>T (p.Leu31=) rs776961395 0.00018
NM_001292063.2(OTOG):c.2300C>T (p.Ser767Phe) rs751618218 0.00017
NM_001292063.2(OTOG):c.2294-6C>T rs201721923 0.00016
NM_001292063.2(OTOG):c.2947C>T (p.Arg983Cys) rs556631973 0.00016
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu) rs542646349 0.00016
NM_001292063.2(OTOG):c.4013G>A (p.Arg1338Gln) rs767859660 0.00016
NM_001292063.2(OTOG):c.8327G>A (p.Arg2776His) rs558314848 0.00016
NM_001292063.2(OTOG):c.2871G>A (p.Val957=) rs539784682 0.00015
NM_001292063.2(OTOG):c.4204G>A (p.Asp1402Asn) rs934642427 0.00015
NM_001292063.2(OTOG):c.8633G>A (p.Arg2878His) rs375127426 0.00015
NM_001292063.2(OTOG):c.8651G>A (p.Arg2884Gln) rs751320465 0.00015
NM_001292063.2(OTOG):c.3359T>C (p.Leu1120Pro) rs757588809 0.00014
NM_001292063.2(OTOG):c.5681C>T (p.Thr1894Met) rs759042084 0.00014
NM_001292063.2(OTOG):c.6296G>A (p.Arg2099Gln) rs757628662 0.00014
NM_001292063.2(OTOG):c.7159C>T (p.Pro2387Ser) rs780716158 0.00014
NM_001292063.2(OTOG):c.2948G>A (p.Arg983His) rs759044507 0.00013
NM_001292063.2(OTOG):c.550G>A (p.Asp184Asn) rs748075389 0.00013
NM_001292063.2(OTOG):c.6130G>A (p.Ala2044Thr) rs750356823 0.00013
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met) rs188322721 0.00013
NM_001292063.2(OTOG):c.883G>A (p.Val295Met) rs186310325 0.00013
NM_001292063.2(OTOG):c.352C>T (p.Arg118Cys) rs527900760 0.00012
NM_001292063.2(OTOG):c.1594C>T (p.Arg532Cys) rs758092389 0.00011
NM_001292063.2(OTOG):c.1697C>G (p.Pro566Arg) rs765026050 0.00011
NM_001292063.2(OTOG):c.7057C>T (p.Arg2353Cys) rs184461956 0.00011
NM_001292063.2(OTOG):c.7232G>A (p.Arg2411His) rs771337626 0.00011
NM_001292063.2(OTOG):c.7468G>C (p.Gly2490Arg) rs775563146 0.00011
NM_001292063.2(OTOG):c.4612G>A (p.Ala1538Thr) rs756067622 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001292063.2(OTOG):c.94+76C>T rs568988885 0.00010
NM_001292063.2(OTOG):c.286C>G (p.Pro96Ala) rs567428169 0.00009
NM_001292063.2(OTOG):c.3203C>T (p.Thr1068Ile) rs914932265 0.00009
NM_001292063.2(OTOG):c.4582A>T (p.Thr1528Ser) rs747022159 0.00009
NM_001292063.2(OTOG):c.4726A>G (p.Thr1576Ala) rs531217323 0.00009
NM_001292063.2(OTOG):c.7054C>T (p.Arg2352Trp) rs756364973 0.00009
NM_001292063.2(OTOG):c.8252C>T (p.Ser2751Phe) rs201728749 0.00009
NM_001292063.2(OTOG):c.13G>A (p.Ala5Thr) rs533327958 0.00008
NM_001292063.2(OTOG):c.3265G>A (p.Val1089Ile) rs528406185 0.00008
NM_001292063.2(OTOG):c.450A>G (p.Thr150=) rs779238030 0.00008
NM_001292063.2(OTOG):c.680T>C (p.Met227Thr) rs756107368 0.00008
NM_001292063.2(OTOG):c.8541+5G>A rs754883697 0.00008
NM_001292063.2(OTOG):c.1644+5G>C rs770129150 0.00007
NM_001292063.2(OTOG):c.1652A>G (p.Asp551Gly) rs1477235426 0.00007
NM_001292063.2(OTOG):c.421C>T (p.Arg141Trp) rs752392477 0.00007
NM_001292063.2(OTOG):c.4820C>T (p.Ser1607Leu) rs867891665 0.00007
NM_001292063.2(OTOG):c.5981C>T (p.Ala1994Val) rs11024341 0.00007
NM_001292063.2(OTOG):c.1546C>T (p.Arg516Cys) rs755375116 0.00006
NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg) rs368666159 0.00006
NM_001292063.2(OTOG):c.5380C>T (p.Arg1794Cys) rs1246889104 0.00006
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met) rs758489218 0.00006
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=) rs187255209 0.00006
NM_001292063.2(OTOG):c.8206C>T (p.His2736Tyr) rs752900573 0.00006
NM_001292063.2(OTOG):c.3521C>T (p.Pro1174Leu) rs775584403 0.00005
NM_001292063.2(OTOG):c.5626C>T (p.Leu1876=) rs748088599 0.00005
NM_001292063.2(OTOG):c.5753C>T (p.Ser1918Phe) rs866380872 0.00005
NM_001292063.2(OTOG):c.6148C>T (p.Arg2050Cys) rs758044497 0.00005
NM_001292063.2(OTOG):c.8119G>A (p.Val2707Met) rs566656846 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001292063.2(OTOG):c.1175G>A (p.Arg392Gln) rs755321990 0.00004
NM_001292063.2(OTOG):c.1378G>C (p.Ala460Pro) rs764070352 0.00004
NM_001292063.2(OTOG):c.2080G>A (p.Ala694Thr) rs757854202 0.00004
NM_001292063.2(OTOG):c.2233G>A (p.Ala745Thr) rs1351372831 0.00004
NM_001292063.2(OTOG):c.2713G>A (p.Val905Met) rs767006121 0.00004
NM_001292063.2(OTOG):c.3262C>T (p.His1088Tyr) rs1367217080 0.00004
NM_001292063.2(OTOG):c.3430C>T (p.Arg1144Trp) rs548446522 0.00004
NM_001292063.2(OTOG):c.3649G>A (p.Val1217Met) rs999140107 0.00004
NM_001292063.2(OTOG):c.3740G>A (p.Ser1247Asn) rs955374063 0.00004
NM_001292063.2(OTOG):c.4588C>G (p.Leu1530Val) rs766929865 0.00004
NM_001292063.2(OTOG):c.4603G>A (p.Glu1535Lys) rs1379648118 0.00004
NM_001292063.2(OTOG):c.6217C>T (p.Pro2073Ser) rs752786692 0.00004
NM_001292063.2(OTOG):c.7723G>A (p.Glu2575Lys) rs747421330 0.00004
NM_001292063.2(OTOG):c.7809C>G (p.Phe2603Leu) rs1213755361 0.00004
NM_001292063.2(OTOG):c.7916C>T (p.Pro2639Leu) rs538911042 0.00004
NM_001292063.2(OTOG):c.8653C>T (p.Arg2885Cys) rs185641221 0.00004
NM_001292063.2(OTOG):c.1295G>A (p.Cys432Tyr) rs1432190265 0.00003
NM_001292063.2(OTOG):c.2036T>C (p.Val679Ala) rs1182616691 0.00003
NM_001292063.2(OTOG):c.2783G>A (p.Cys928Tyr) rs1309976795 0.00003
NM_001292063.2(OTOG):c.3665G>A (p.Arg1222Gln) rs574498870 0.00003
NM_001292063.2(OTOG):c.4129C>T (p.Arg1377Cys) rs764931529 0.00003
NM_001292063.2(OTOG):c.6845G>A (p.Arg2282His) rs867257104 0.00003
NM_001292063.2(OTOG):c.725G>A (p.Arg242Gln) rs765587052 0.00003
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=) rs200809116 0.00003
NM_001292063.2(OTOG):c.8114C>T (p.Thr2705Ile) rs547179694 0.00003
NM_001292063.2(OTOG):c.1826C>T (p.Thr609Met) rs149486088 0.00002
NM_001292063.2(OTOG):c.1855C>T (p.Arg619Cys) rs909124808 0.00002
NM_001292063.2(OTOG):c.2026T>C (p.Ser676Pro) rs564978061 0.00002
NM_001292063.2(OTOG):c.2272C>T (p.Arg758Cys) rs1184434567 0.00002
NM_001292063.2(OTOG):c.2402A>G (p.Asp801Gly) rs185940730 0.00002
NM_001292063.2(OTOG):c.2525C>A (p.Pro842His) rs560987450 0.00002
NM_001292063.2(OTOG):c.2782T>C (p.Cys928Arg) rs1011979116 0.00002
NM_001292063.2(OTOG):c.3053G>A (p.Cys1018Tyr) rs1330184425 0.00002
NM_001292063.2(OTOG):c.3438G>A (p.Met1146Ile) rs767774116 0.00002
NM_001292063.2(OTOG):c.5759C>A (p.Pro1920His) rs1191107652 0.00002
NM_001292063.2(OTOG):c.6168C>T (p.Gly2056=) rs1421610135 0.00002
NM_001292063.2(OTOG):c.6560C>T (p.Pro2187Leu) rs963466460 0.00002
NM_001292063.2(OTOG):c.6701A>G (p.His2234Arg) rs544487442 0.00002
NM_001292063.2(OTOG):c.8368C>T (p.Arg2790Cys) rs952407320 0.00002
NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys) rs754033112 0.00002
NM_001292063.2(OTOG):c.1063C>T (p.Pro355Ser) rs1057520124 0.00001
NM_001292063.2(OTOG):c.1148A>G (p.Tyr383Cys) rs1007369140 0.00001
NM_001292063.2(OTOG):c.1156G>A (p.Ala386Thr) rs994364425 0.00001
NM_001292063.2(OTOG):c.1280A>G (p.His427Arg) rs1346823523 0.00001
NM_001292063.2(OTOG):c.1312G>A (p.Ala438Thr) rs1290666415 0.00001
NM_001292063.2(OTOG):c.1750T>A (p.Tyr584Asn) rs557473818 0.00001
NM_001292063.2(OTOG):c.2030C>T (p.Pro677Leu) rs1182393340 0.00001
NM_001292063.2(OTOG):c.2192G>A (p.Arg731His) rs763745890 0.00001
NM_001292063.2(OTOG):c.2530G>A (p.Gly844Arg) rs867715728 0.00001
NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp) rs1260548574 0.00001
NM_001292063.2(OTOG):c.2740G>A (p.Gly914Ser) rs1429660705 0.00001
NM_001292063.2(OTOG):c.2885C>T (p.Ser962Leu) rs750521452 0.00001
NM_001292063.2(OTOG):c.3109C>T (p.Leu1037Phe) rs866755719 0.00001
NM_001292063.2(OTOG):c.3124G>T (p.Asp1042Tyr) rs973728066 0.00001
NM_001292063.2(OTOG):c.3212A>C (p.His1071Pro) rs755488549 0.00001
NM_001292063.2(OTOG):c.3361G>C (p.Glu1121Gln) rs1275721235 0.00001
NM_001292063.2(OTOG):c.3424G>A (p.Asp1142Asn) rs1013694969 0.00001
NM_001292063.2(OTOG):c.358A>G (p.Asn120Asp) rs778084555 0.00001
NM_001292063.2(OTOG):c.365C>T (p.Thr122Ile) rs1403454339 0.00001
NM_001292063.2(OTOG):c.3668C>T (p.Thr1223Ile) rs938096068 0.00001
NM_001292063.2(OTOG):c.3931G>A (p.Val1311Ile) rs778865165 0.00001
NM_001292063.2(OTOG):c.3966G>T (p.Trp1322Cys) rs1853374229 0.00001
NM_001292063.2(OTOG):c.4147C>T (p.Arg1383Cys) rs566689671 0.00001
NM_001292063.2(OTOG):c.4403C>T (p.Thr1468Ile) rs575174022 0.00001
NM_001292063.2(OTOG):c.4405C>G (p.Leu1469Val) rs1167218241 0.00001
NM_001292063.2(OTOG):c.4495C>G (p.Leu1499Val) rs1426955815 0.00001
NM_001292063.2(OTOG):c.4823C>T (p.Pro1608Leu) rs1853489884 0.00001
NM_001292063.2(OTOG):c.4922C>T (p.Ala1641Val) rs979185551 0.00001
NM_001292063.2(OTOG):c.494C>A (p.Thr165Asn) rs1396310498 0.00001
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly) rs876657555 0.00001
NM_001292063.2(OTOG):c.5653T>C (p.Ser1885Pro) rs923743309 0.00001
NM_001292063.2(OTOG):c.5758C>T (p.Pro1920Ser) rs1446581241 0.00001
NM_001292063.2(OTOG):c.6127A>G (p.Ile2043Val) rs765128079 0.00001
NM_001292063.2(OTOG):c.6224G>A (p.Arg2075His) rs925550621 0.00001
NM_001292063.2(OTOG):c.6249G>T (p.Val2083=) rs774355599 0.00001
NM_001292063.2(OTOG):c.6251G>A (p.Arg2084Gln) rs1395557172 0.00001
NM_001292063.2(OTOG):c.6334G>A (p.Asp2112Asn) rs1314382019 0.00001
NM_001292063.2(OTOG):c.6436C>T (p.Leu2146=) rs1242394086 0.00001
NM_001292063.2(OTOG):c.6527A>G (p.Lys2176Arg) rs931554933 0.00001
NM_001292063.2(OTOG):c.6535G>A (p.Val2179Met) rs1287695716 0.00001
NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys) rs1311003002 0.00001
NM_001292063.2(OTOG):c.6711C>T (p.Cys2237=) rs562749083 0.00001
NM_001292063.2(OTOG):c.6713G>A (p.Gly2238Asp) rs528937385 0.00001
NM_001292063.2(OTOG):c.6780G>A (p.Glu2260=) rs1311411933 0.00001
NM_001292063.2(OTOG):c.6908G>A (p.Arg2303His) rs1373360779 0.00001
NM_001292063.2(OTOG):c.698A>G (p.Gln233Arg) rs905156944 0.00001
NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met) rs188832359 0.00001
NM_001292063.2(OTOG):c.7121G>A (p.Cys2374Tyr) rs1017790030 0.00001
NM_001292063.2(OTOG):c.7168C>T (p.Pro2390Ser) rs1029912817 0.00001
NM_001292063.2(OTOG):c.7268-7T>A rs911853347 0.00001
NM_001292063.2(OTOG):c.7423G>C (p.Gly2475Arg) rs771765463 0.00001
NM_001292063.2(OTOG):c.7826A>T (p.Gln2609Leu) rs926666774 0.00001
NM_001292063.2(OTOG):c.7925G>A (p.Arg2642Gln) rs995727074 0.00001
NM_001292063.2(OTOG):c.8084C>A (p.Ala2695Glu) rs1043470591 0.00001
NM_001292063.2(OTOG):c.8129C>T (p.Pro2710Leu) rs767832989 0.00001
NM_001292063.2(OTOG):c.8212C>T (p.Arg2738Trp) rs755224664 0.00001
NM_001292063.2(OTOG):c.8221G>C (p.Ala2741Pro) rs1437609507 0.00001
NM_001292063.2(OTOG):c.8336G>T (p.Cys2779Phe) rs895157683 0.00001
NM_001292063.2(OTOG):c.854T>C (p.Val285Ala) rs756351208 0.00001
NM_001292063.2(OTOG):c.94+51G>A rs764004379 0.00001
NM_001292063.2(OTOG):c.94+54A>G rs1253663735 0.00001
NM_001292063.2(OTOG):c.94G>A (p.Ala32Thr) rs565203765 0.00001
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001292063.2(OTOG):c.1000G>A (p.Val334Met) rs553254322
NM_001292063.2(OTOG):c.1012T>C (p.Cys338Arg)
NM_001292063.2(OTOG):c.1027C>T (p.Arg343Trp)
NM_001292063.2(OTOG):c.1028G>A (p.Arg343Gln)
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr) rs191354103
NM_001292063.2(OTOG):c.1118T>A (p.Val373Glu)
NM_001292063.2(OTOG):c.1143G>A (p.Ala381=)
NM_001292063.2(OTOG):c.1144G>C (p.Glu382Gln)
NM_001292063.2(OTOG):c.1169C>T (p.Ala390Val) rs1326511501
NM_001292063.2(OTOG):c.1178C>G (p.Pro393Arg)
NM_001292063.2(OTOG):c.1200G>C (p.Gln400His)
NM_001292063.2(OTOG):c.1228_1230del (p.Glu410del) rs1238249987
NM_001292063.2(OTOG):c.1382A>C (p.Glu461Ala)
NM_001292063.2(OTOG):c.1454C>T (p.Thr485Ile)
NM_001292063.2(OTOG):c.1468A>C (p.Lys490Gln)
NM_001292063.2(OTOG):c.1507T>C (p.Ser503Pro) rs2134011193
NM_001292063.2(OTOG):c.1522A>G (p.Ile508Val) rs2134011205
NM_001292063.2(OTOG):c.1549C>G (p.Arg517Gly)
NM_001292063.2(OTOG):c.1595G>T (p.Arg532Leu)
NM_001292063.2(OTOG):c.15G>A (p.Ala5=)
NM_001292063.2(OTOG):c.1639G>A (p.Gly547Ser)
NM_001292063.2(OTOG):c.1658C>A (p.Ala553Asp) rs1176349136
NM_001292063.2(OTOG):c.1663G>A (p.Val555Ile)
NM_001292063.2(OTOG):c.1723G>T (p.Ala575Ser) rs1266983964
NM_001292063.2(OTOG):c.1763C>G (p.Pro588Arg)
NM_001292063.2(OTOG):c.1813C>T (p.Leu605=) rs2134022507
NM_001292063.2(OTOG):c.1837G>A (p.Val613Met)
NM_001292063.2(OTOG):c.1837G>T (p.Val613Leu)
NM_001292063.2(OTOG):c.1852G>T (p.Asp618Tyr)
NM_001292063.2(OTOG):c.1A>G (p.Met1Val) rs953945741
NM_001292063.2(OTOG):c.2062G>A (p.Asp688Asn)
NM_001292063.2(OTOG):c.2084C>T (p.Ser695Phe) rs1430140899
NM_001292063.2(OTOG):c.209G>A (p.Gly70Glu)
NM_001292063.2(OTOG):c.2107G>A (p.Val703Met)
NM_001292063.2(OTOG):c.215A>G (p.Gln72Arg)
NM_001292063.2(OTOG):c.2176C>T (p.Arg726Cys)
NM_001292063.2(OTOG):c.2191C>T (p.Arg731Cys)
NM_001292063.2(OTOG):c.2197G>C (p.Gly733Arg)
NM_001292063.2(OTOG):c.220G>A (p.Ala74Thr) rs2133995808
NM_001292063.2(OTOG):c.2215G>A (p.Ala739Thr)
NM_001292063.2(OTOG):c.2278C>T (p.Arg760Cys)
NM_001292063.2(OTOG):c.238G>A (p.Val80Met)
NM_001292063.2(OTOG):c.2398G>C (p.Asp800His)
NM_001292063.2(OTOG):c.2486+6T>A rs2134030088
NM_001292063.2(OTOG):c.2486G>A (p.Arg829Gln)
NM_001292063.2(OTOG):c.2605+9G>A
NM_001292063.2(OTOG):c.2647G>A (p.Asp883Asn)
NM_001292063.2(OTOG):c.2684C>T (p.Thr895Met) rs777886999
NM_001292063.2(OTOG):c.2695C>G (p.Gln899Glu)
NM_001292063.2(OTOG):c.2711G>A (p.Ser904Asn) rs2134036310
NM_001292063.2(OTOG):c.2734C>G (p.Leu912Val)
NM_001292063.2(OTOG):c.2833C>A (p.Pro945Thr)
NM_001292063.2(OTOG):c.2837G>A (p.Gly946Glu) rs1455245694
NM_001292063.2(OTOG):c.2839G>A (p.Asp947Asn)
NM_001292063.2(OTOG):c.2904C>A (p.His968Gln)
NM_001292063.2(OTOG):c.291C>T (p.Ser97=)
NM_001292063.2(OTOG):c.293-3C>A
NM_001292063.2(OTOG):c.2939G>C (p.Arg980Pro) rs876657938
NM_001292063.2(OTOG):c.2966C>T (p.Pro989Leu) rs192108740
NM_001292063.2(OTOG):c.2977G>A (p.Val993Met)
NM_001292063.2(OTOG):c.3079A>G (p.Lys1027Glu)
NM_001292063.2(OTOG):c.3143G>A (p.Ser1048Asn)
NM_001292063.2(OTOG):c.3188G>T (p.Arg1063Leu) rs11024333
NM_001292063.2(OTOG):c.3289G>A (p.Gly1097Ser)
NM_001292063.2(OTOG):c.330C>A (p.His110Gln)
NM_001292063.2(OTOG):c.3359T>G (p.Leu1120Arg) rs757588809
NM_001292063.2(OTOG):c.3361G>A (p.Glu1121Lys) rs1275721235
NM_001292063.2(OTOG):c.3401C>T (p.Ala1134Val)
NM_001292063.2(OTOG):c.3419C>A (p.Thr1140Asn)
NM_001292063.2(OTOG):c.3458G>C (p.Arg1153Pro)
NM_001292063.2(OTOG):c.3493C>T (p.Leu1165Phe)
NM_001292063.2(OTOG):c.353G>A (p.Arg118His)
NM_001292063.2(OTOG):c.3598T>A (p.Cys1200Ser)
NM_001292063.2(OTOG):c.3613G>A (p.Val1205Ile)
NM_001292063.2(OTOG):c.3667A>G (p.Thr1223Ala)
NM_001292063.2(OTOG):c.3760C>G (p.Leu1254Val)
NM_001292063.2(OTOG):c.3763G>C (p.Val1255Leu)
NM_001292063.2(OTOG):c.3776C>T (p.Ala1259Val)
NM_001292063.2(OTOG):c.3874C>T (p.His1292Tyr)
NM_001292063.2(OTOG):c.3877G>C (p.Asp1293His)
NM_001292063.2(OTOG):c.3931G>T (p.Val1311Phe)
NM_001292063.2(OTOG):c.3938C>A (p.Ala1313Asp)
NM_001292063.2(OTOG):c.4049C>A (p.Ser1350Tyr) rs1346974637
NM_001292063.2(OTOG):c.4067C>T (p.Ser1356Phe)
NM_001292063.2(OTOG):c.4102C>A (p.Arg1368=)
NM_001292063.2(OTOG):c.4120G>A (p.Glu1374Lys)
NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)
NM_001292063.2(OTOG):c.4132C>T (p.Arg1378Trp) rs561534995
NM_001292063.2(OTOG):c.4166C>T (p.Pro1389Leu)
NM_001292063.2(OTOG):c.4181A>T (p.Tyr1394Phe)
NM_001292063.2(OTOG):c.4191C>G (p.Cys1397Trp)
NM_001292063.2(OTOG):c.4223G>T (p.Cys1408Phe)
NM_001292063.2(OTOG):c.430G>A (p.Gly144Arg)
NM_001292063.2(OTOG):c.4374G>T (p.Trp1458Cys)
NM_001292063.2(OTOG):c.4375G>A (p.Val1459Ile)
NM_001292063.2(OTOG):c.4403C>A (p.Thr1468Asn) rs575174022
NM_001292063.2(OTOG):c.4571G>A (p.Gly1524Asp)
NM_001292063.2(OTOG):c.4630G>A (p.Gly1544Ser)
NM_001292063.2(OTOG):c.4646del (p.Pro1549fs) rs1269466280
NM_001292063.2(OTOG):c.4708C>T (p.Leu1570Phe)
NM_001292063.2(OTOG):c.4763C>T (p.Thr1588Ile)
NM_001292063.2(OTOG):c.4826del (p.Pro1609fs) rs1565116349
NM_001292063.2(OTOG):c.4834C>T (p.Arg1612Cys) rs546247260
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu) rs897939885
NM_001292063.2(OTOG):c.4864G>A (p.Val1622Ile) rs1049016020
NM_001292063.2(OTOG):c.4939C>A (p.Pro1647Thr)
NM_001292063.2(OTOG):c.4942G>A (p.Val1648Met)
NM_001292063.2(OTOG):c.5008C>A (p.Pro1670Thr)
NM_001292063.2(OTOG):c.5036C>T (p.Thr1679Ile) rs950248015
NM_001292063.2(OTOG):c.505C>T (p.Arg169Cys)
NM_001292063.2(OTOG):c.50C>T (p.Pro17Leu)
NM_001292063.2(OTOG):c.5132C>G (p.Pro1711Arg) rs374434360
NM_001292063.2(OTOG):c.5181A>T (p.Glu1727Asp)
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001292063.2(OTOG):c.521_523del (p.Gly174_Gln175delinsGlu)
NM_001292063.2(OTOG):c.5284T>A (p.Ser1762Thr)
NM_001292063.2(OTOG):c.5362A>G (p.Met1788Val)
NM_001292063.2(OTOG):c.5378C>T (p.Thr1793Ile) rs1317364318
NM_001292063.2(OTOG):c.5477C>T (p.Ala1826Val) rs1246080530
NM_001292063.2(OTOG):c.5584C>A (p.Pro1862Thr)
NM_001292063.2(OTOG):c.566C>G (p.Ser189Cys)
NM_001292063.2(OTOG):c.5818C>T (p.His1940Tyr)
NM_001292063.2(OTOG):c.5848G>A (p.Glu1950Lys)
NM_001292063.2(OTOG):c.587G>C (p.Arg196Thr) rs983961694
NM_001292063.2(OTOG):c.5921C>T (p.Ala1974Val) rs1304160501
NM_001292063.2(OTOG):c.6005C>T (p.Pro2002Leu)
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6035G>A (p.Gly2012Glu) rs2134092984
NM_001292063.2(OTOG):c.6038G>A (p.Arg2013His)
NM_001292063.2(OTOG):c.6061G>A (p.Val2021Ile)
NM_001292063.2(OTOG):c.6104A>G (p.Asn2035Ser)
NM_001292063.2(OTOG):c.6152A>T (p.His2051Leu)
NM_001292063.2(OTOG):c.6178C>T (p.Arg2060Cys)
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu) rs188527711
NM_001292063.2(OTOG):c.6256G>A (p.Gly2086Ser) rs1380873439
NM_001292063.2(OTOG):c.6266G>A (p.Arg2089His)
NM_001292063.2(OTOG):c.6286T>C (p.Cys2096Arg) rs1424850080
NM_001292063.2(OTOG):c.6287G>A (p.Cys2096Tyr)
NM_001292063.2(OTOG):c.6295C>T (p.Arg2099Trp)
NM_001292063.2(OTOG):c.6406G>A (p.Val2136Ile)
NM_001292063.2(OTOG):c.6424A>G (p.Lys2142Glu)
NM_001292063.2(OTOG):c.6453G>T (p.Trp2151Cys)
NM_001292063.2(OTOG):c.6458C>T (p.Pro2153Leu)
NM_001292063.2(OTOG):c.6508A>G (p.Ile2170Val)
NM_001292063.2(OTOG):c.6529G>A (p.Val2177Met)
NM_001292063.2(OTOG):c.6556C>T (p.Pro2186Ser) rs2133699235
NM_001292063.2(OTOG):c.6563T>C (p.Val2188Ala)
NM_001292063.2(OTOG):c.661G>A (p.Val221Ile) rs1027403751
NM_001292063.2(OTOG):c.6659T>A (p.Leu2220His)
NM_001292063.2(OTOG):c.6661_6666del (p.Met2221_Ile2222del)
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001292063.2(OTOG):c.6679A>G (p.Lys2227Glu) rs1554978000
NM_001292063.2(OTOG):c.670C>G (p.Pro224Ala)
NM_001292063.2(OTOG):c.6712+6G>A
NM_001292063.2(OTOG):c.6851G>A (p.Arg2284His)
NM_001292063.2(OTOG):c.6905A>G (p.Asn2302Ser) rs1485663504
NM_001292063.2(OTOG):c.6911C>T (p.Thr2304Ile)
NM_001292063.2(OTOG):c.6928C>A (p.Arg2310Ser) rs896254817
NM_001292063.2(OTOG):c.6928C>T (p.Arg2310Cys)
NM_001292063.2(OTOG):c.6934-20_6934-13delinsA
NM_001292063.2(OTOG):c.6983T>C (p.Val2328Ala)
NM_001292063.2(OTOG):c.6991C>T (p.Pro2331Ser)
NM_001292063.2(OTOG):c.7015G>C (p.Val2339Leu)
NM_001292063.2(OTOG):c.7053G>C (p.Trp2351Cys)
NM_001292063.2(OTOG):c.7072C>G (p.Pro2358Ala) rs1216988583
NM_001292063.2(OTOG):c.7075T>G (p.Phe2359Val)
NM_001292063.2(OTOG):c.70G>A (p.Glu24Lys)
NM_001292063.2(OTOG):c.7138T>C (p.Cys2380Arg) rs879491639
NM_001292063.2(OTOG):c.7243C>T (p.Leu2415Phe)
NM_001292063.2(OTOG):c.7247G>A (p.Cys2416Tyr)
NM_001292063.2(OTOG):c.7367T>A (p.Ile2456Asn)
NM_001292063.2(OTOG):c.7433C>G (p.Ala2478Gly)
NM_001292063.2(OTOG):c.7486A>G (p.Asn2496Asp)
NM_001292063.2(OTOG):c.7522C>A (p.Arg2508Ser) rs1430372915
NM_001292063.2(OTOG):c.7532A>G (p.His2511Arg)
NM_001292063.2(OTOG):c.7537C>T (p.Leu2513Phe)
NM_001292063.2(OTOG):c.755A>T (p.Asp252Val) rs2134004261
NM_001292063.2(OTOG):c.7612G>C (p.Glu2538Gln)
NM_001292063.2(OTOG):c.7641G>C (p.Gln2547His)
NM_001292063.2(OTOG):c.7666G>A (p.Asp2556Asn)
NM_001292063.2(OTOG):c.7766C>T (p.Thr2589Met)
NM_001292063.2(OTOG):c.7796T>C (p.Val2599Ala) rs1847899311
NM_001292063.2(OTOG):c.7847T>C (p.Leu2616Pro) rs1847900408
NM_001292063.2(OTOG):c.7871G>C (p.Arg2624Pro) rs890211812
NM_001292063.2(OTOG):c.7898G>A (p.Cys2633Tyr)
NM_001292063.2(OTOG):c.7924C>T (p.Arg2642Trp)
NM_001292063.2(OTOG):c.8018_8019delinsAT (p.Ala2673Asp) rs876657945
NM_001292063.2(OTOG):c.8019_8020delinsTA (p.Pro2674Thr)
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978
NM_001292063.2(OTOG):c.8036G>T (p.Arg2679Leu) rs766229978
NM_001292063.2(OTOG):c.8092G>A (p.Val2698Met)
NM_001292063.2(OTOG):c.8107C>T (p.Arg2703Cys)
NM_001292063.2(OTOG):c.8155ACC[1] (p.Thr2720del)
NM_001292063.2(OTOG):c.8155ACC[3] (p.Thr2720dup) rs749534085
NM_001292063.2(OTOG):c.8164G>A (p.Val2722Met)
NM_001292063.2(OTOG):c.8177T>C (p.Ile2726Thr)
NM_001292063.2(OTOG):c.8189C>A (p.Ala2730Glu)
NM_001292063.2(OTOG):c.8210C>T (p.Pro2737Leu)
NM_001292063.2(OTOG):c.8221G>A (p.Ala2741Thr)
NM_001292063.2(OTOG):c.8246A>G (p.Asn2749Ser)
NM_001292063.2(OTOG):c.8387C>A (p.Pro2796Gln)
NM_001292063.2(OTOG):c.8492TGACCATCCGCA[1] (p.Met2835_Arg2838del)
NM_001292063.2(OTOG):c.8500C>T (p.Arg2834Cys)
NM_001292063.2(OTOG):c.8513G>A (p.Arg2838His) rs548280117
NM_001292063.2(OTOG):c.8562T>G (p.Asp2854Glu)
NM_001292063.2(OTOG):c.8650C>T (p.Arg2884Trp)
NM_001292063.2(OTOG):c.8662C>T (p.Gln2888Ter) rs1565133807
NM_001292063.2(OTOG):c.8723G>C (p.Cys2908Ser)
NM_001292063.2(OTOG):c.873G>A (p.Leu291=)
NM_001292063.2(OTOG):c.916_917delinsAA (p.Ala306Asn) rs2134005761
NM_001292063.2(OTOG):c.938C>T (p.Pro313Leu) rs767555421
NM_001292063.2(OTOG):c.94+17C>T rs1851833422
NM_001292063.2(OTOG):c.94+36C>G rs1216368455
NM_001292063.2(OTOG):c.94+62G>A
NM_001292063.2(OTOG):c.94+75G>A
NM_001292063.2(OTOG):c.959G>A (p.Arg320His)

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