ClinVar Miner

List of variants in gene TG studied for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1543
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.4933-142A>G rs2739062 0.99520
NM_003235.5(TG):c.68-26T>C rs180203 0.99463
NM_003235.5(TG):c.5401+49G>C rs2246611 0.80881
NM_003235.5(TG):c.3635-164A>G rs1810396 0.76276
NM_003235.5(TG):c.68-148G>A rs180202 0.73862
NM_003235.5(TG):c.4933-165T>G rs2739061 0.66919
NM_003235.5(TG):c.4933-255T>C rs2739060 0.63341
NM_003235.5(TG):c.6056-22G>T rs1554541 0.62843
NM_003235.5(TG):c.6199+129A>G rs1403486 0.61279
NM_003235.5(TG):c.3082A>G (p.Met1028Val) rs853326 0.60247
NM_003235.5(TG):c.2334T>C (p.Pro778=) rs2069550 0.59900
NM_003235.5(TG):c.6200-120A>G rs10105779 0.59324
NM_003235.5(TG):c.6262+192T>C rs10095925 0.59313
NM_003235.5(TG):c.5549-94C>G rs2702998 0.58276
NM_003235.5(TG):c.638+88T>C rs180210 0.57685
NM_003235.5(TG):c.4002+39C>G rs853318 0.57632
NM_003235.5(TG):c.7589G>A (p.Arg2530Gln) rs1133076 0.56572
NM_003235.5(TG):c.4160-174A>G rs2687825 0.55151
NM_003235.5(TG):c.4506T>C (p.Ala1502=) rs853304 0.55069
NM_003235.5(TG):c.4529-140A>G rs853301 0.54006
NM_003235.5(TG):c.8189-298A>G rs4736633 0.53677
NM_003235.5(TG):c.6397+292G>A rs6471108 0.53537
NM_003235.5(TG):c.746-212C>T rs180217 0.52838
NM_003235.5(TG):c.478+224T>C rs180208 0.52423
NM_003235.5(TG):c.6398-62A>G rs10105992 0.52340
NM_003235.5(TG):c.6398-64A>T rs10105991 0.52331
NM_003235.5(TG):c.7036+218T>G rs3758113 0.51944
NM_003235.5(TG):c.5401+91C>T rs2246608 0.51898
NM_003235.5(TG):c.5234-85T>C rs2246625 0.51894
NM_003235.5(TG):c.4932+168T>C rs1474539 0.51690
NM_003235.5(TG):c.4932+278T>C rs4361742 0.51451
NM_003235.5(TG):c.7920C>T (p.Tyr2640=) rs2294024 0.49806
NM_003235.5(TG):c.7998-202G>A rs2294025 0.48906
NM_003235.5(TG):c.6782+175A>T rs940078 0.47710
NM_003235.5(TG):c.3848-110A>G rs866468 0.47599
NM_003235.5(TG):c.3848-20T>C rs2261147 0.47593
NM_003235.5(TG):c.3847+141G>A rs853319 0.47470
NM_003235.5(TG):c.3935A>G (p.Asp1312Gly) rs2069556 0.47427
NM_003235.5(TG):c.3434-73A>G rs853322 0.45136
NM_003235.5(TG):c.3331-240A>C rs853323 0.45028
NM_003235.5(TG):c.5864-198C>T rs2687809 0.44606
NM_003235.5(TG):c.4378+149A>G rs2258483 0.40444
NM_003235.5(TG):c.4160-265C>T rs2687826 0.40417
NM_003235.5(TG):c.4160-83T>G rs2687824 0.40274
NM_003235.5(TG):c.5687-167C>T rs2249869 0.40164
NM_003235.5(TG):c.4816+189T>G rs853296 0.39949
NM_003235.5(TG):c.4529-291T>C rs2687810 0.39935
NM_003235.5(TG):c.4932+337T>C rs1474540 0.39770
NM_003235.5(TG):c.5512G>A (p.Asp1838Asn) rs2069561 0.39534
NM_003235.5(TG):c.5548+87C>T rs2687814 0.39435
NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) rs2076740 0.37641
NM_003235.5(TG):c.7754+192A>G rs2294023 0.24985
NM_003235.5(TG):c.7573-148C>T rs2979041 0.24539
NM_003235.5(TG):c.5921T>C (p.Met1974Thr) rs56230101 0.13536
NM_003235.5(TG):c.6397+182G>A rs7827593 0.12925
NM_003235.5(TG):c.5119C>T (p.Pro1707Ser) rs61744678 0.07252
NM_003235.5(TG):c.5234-10T>C rs4736614 0.06877
NM_003235.5(TG):c.5549-9C>A rs77157347 0.05272
NM_003235.5(TG):c.5862A>G (p.Lys1954=) rs16904799 0.05269
NM_003235.5(TG):c.3217+11A>C rs79594547 0.04535
NM_003235.5(TG):c.6395C>T (p.Ser2132Leu) rs61741457 0.04126
NM_003235.5(TG):c.5907G>A (p.Pro1969=) rs17693031 0.03986
NM_003235.5(TG):c.7578T>A (p.Phe2526Leu) rs12114109 0.03807
NM_003235.5(TG):c.2443G>A (p.Gly815Arg) rs16904774 0.03645
NM_003235.5(TG):c.3933G>A (p.Ala1311=) rs16904786 0.03224
NM_003235.5(TG):c.7239+275T>G rs58517974 0.02683
NM_003235.5(TG):c.5122A>G (p.Ile1708Val) rs61744679 0.02642
NM_003235.5(TG):c.5186A>C (p.Asp1729Ala) rs61744749 0.02641
NM_003235.5(TG):c.1332C>T (p.Ile444=) rs61741629 0.02324
NM_003235.5(TG):c.6055+7A>G rs73353474 0.02313
NM_003235.5(TG):c.6984C>G (p.Leu2328=) rs61745590 0.02022
NM_003235.5(TG):c.1821C>T (p.Thr607=) rs61742713 0.02018
NM_003235.5(TG):c.6669G>A (p.Lys2223=) rs61743268 0.01777
NM_003235.5(TG):c.5976-298G>A rs75845288 0.01678
NM_003235.5(TG):c.1543C>G (p.Gln515Glu) rs180222 0.01589
NM_003235.5(TG):c.5370A>G (p.Ile1790Met) rs73710715 0.01452
NM_003235.5(TG):c.5299_5301del (p.Asp1767del) rs112749206 0.01445
NM_003235.5(TG):c.353C>T (p.Pro118Leu) rs114322847 0.01424
NM_003235.5(TG):c.6272A>G (p.Asp2091Gly) rs61743198 0.01391
NM_003235.5(TG):c.3494A>G (p.Tyr1165Cys) rs61746583 0.01329
NM_003235.5(TG):c.1958G>A (p.Gly653Asp) rs2069548 0.01198
NM_003235.5(TG):c.4365C>T (p.Asp1455=) rs57453794 0.01068
NM_003235.5(TG):c.199G>A (p.Gly67Ser) rs116340633 0.00924
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) rs11992497 0.00903
NM_003235.5(TG):c.2761+14T>C rs76286566 0.00834
NM_003235.5(TG):c.1890A>G (p.Gln630=) rs2228590 0.00831
NM_003235.5(TG):c.5219C>A (p.Thr1740Lys) rs16904791 0.00801
NM_003235.5(TG):c.1434G>A (p.Val478=) rs116254142 0.00692
NM_003235.5(TG):c.2520T>C (p.Pro840=) rs116489694 0.00543
NM_003235.5(TG):c.7755-9T>G rs190979363 0.00473
NM_003235.5(TG):c.1296G>A (p.Gln432=) rs61741609 0.00444
NM_003235.5(TG):c.2793T>C (p.Arg931=) rs61736710 0.00443
NM_003235.5(TG):c.3313G>A (p.Val1105Ile) rs115670342 0.00443
NM_003235.5(TG):c.3906G>A (p.Pro1302=) rs2294003 0.00435
NM_003235.5(TG):c.5856G>A (p.Arg1952=) rs115476696 0.00430
NM_003235.5(TG):c.1269C>T (p.Arg423=) rs115916398 0.00412
NM_003235.5(TG):c.2561G>A (p.Arg854Gln) rs115361039 0.00408
NM_003235.5(TG):c.7135C>T (p.Arg2379Cys) rs61742878 0.00381
NM_003235.5(TG):c.325A>G (p.Ile109Val) rs35301433 0.00350
NM_003235.5(TG):c.3129C>T (p.His1043=) rs112300885 0.00347
NM_003235.5(TG):c.144C>T (p.Tyr48=) rs114436500 0.00345
NM_003235.5(TG):c.4484T>C (p.Val1495Ala) rs61740825 0.00330
NM_003235.5(TG):c.6783-3C>T rs143075252 0.00297
NM_003235.5(TG):c.6200-7T>A rs79724982 0.00240
NM_003235.5(TG):c.7083G>T (p.Ala2361=) rs116723711 0.00239
NM_003235.5(TG):c.6886G>A (p.Ala2296Thr) rs80285078 0.00237
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_003235.5(TG):c.7665C>T (p.Arg2555=) rs115139074 0.00214
NM_003235.5(TG):c.537A>G (p.Ser179=) rs114875802 0.00203
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg) rs115436575 0.00198
NM_003235.5(TG):c.3583G>A (p.Gly1195Arg) rs138469414 0.00197
NM_003235.5(TG):c.3647C>T (p.Pro1216Leu) rs142335537 0.00182
NM_003235.5(TG):c.6646A>G (p.Ile2216Val) rs138690529 0.00179
NM_003235.5(TG):c.6351T>G (p.Thr2117=) rs145367055 0.00172
NM_003235.5(TG):c.7782C>T (p.Ile2594=) rs139055416 0.00169
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) rs12549018 0.00164
NM_003235.5(TG):c.3035C>T (p.Pro1012Leu) rs115936153 0.00159
NM_003235.5(TG):c.1557C>G (p.Ala519=) rs61744241 0.00158
NM_003235.5(TG):c.4493C>T (p.Thr1498Met) rs74590117 0.00151
NM_003235.5(TG):c.2980A>G (p.Ile994Val) rs111363334 0.00143
NM_003235.5(TG):c.4003-4G>A rs7824402 0.00143
NM_003235.5(TG):c.4193G>A (p.Arg1398His) rs115263899 0.00143
NM_003235.5(TG):c.2859G>A (p.Leu953=) rs114356482 0.00137
NM_003235.5(TG):c.1567T>C (p.Ser523Pro) rs116062097 0.00135
NM_003235.5(TG):c.3999C>G (p.Ile1333Met) rs150728539 0.00134
NM_003235.5(TG):c.1075+8T>G rs184523779 0.00133
NM_003235.5(TG):c.3804C>T (p.Ser1268=) rs61747461 0.00130
NM_003235.5(TG):c.4537G>T (p.Asp1513Tyr) rs114305064 0.00128
NM_003235.5(TG):c.3057C>T (p.Ser1019=) rs116032324 0.00120
NM_003235.5(TG):c.5855G>A (p.Arg1952Gln) rs141191791 0.00120
NM_003235.5(TG):c.426C>T (p.Asp142=) rs114477962 0.00113
NM_003235.5(TG):c.542C>A (p.Pro181His) rs115145937 0.00113
NM_003235.5(TG):c.7737T>C (p.Ala2579=) rs145611717 0.00098
NM_003235.5(TG):c.6199+8C>A rs139957020 0.00095
NM_003235.5(TG):c.3983G>A (p.Arg1328His) rs141146573 0.00086
NM_003235.5(TG):c.4323G>A (p.Ser1441=) rs769654694 0.00085
NM_003235.5(TG):c.848G>A (p.Arg283Gln) rs146926250 0.00073
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_003235.5(TG):c.5984A>G (p.Glu1995Gly) rs190914906 0.00058
NM_003235.5(TG):c.3024C>T (p.Arg1008=) rs143929015 0.00055
NM_003235.5(TG):c.4563G>A (p.Leu1521=) rs115981067 0.00054
NM_003235.5(TG):c.1900G>A (p.Gly634Arg) rs116417639 0.00053
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) rs146498231 0.00052
NM_003235.5(TG):c.6819G>A (p.Thr2273=) rs780709015 0.00049
NM_003235.5(TG):c.3139+9G>A rs201582196 0.00048
NM_003235.5(TG):c.4696T>C (p.Leu1566=) rs148510036 0.00044
NM_003235.5(TG):c.4859C>T (p.Thr1620Met) rs115902639 0.00044
NM_003235.5(TG):c.1573G>A (p.Gly525Arg) rs140232663 0.00043
NM_003235.5(TG):c.6180C>T (p.Phe2060=) rs141876854 0.00041
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_003235.5(TG):c.8202C>T (p.Gly2734=) rs142157473 0.00040
NM_003235.5(TG):c.4527C>T (p.His1509=) rs201216611 0.00039
NM_003235.5(TG):c.6952G>A (p.Asp2318Asn) rs201930579 0.00039
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp) rs114613744 0.00038
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) rs199923962 0.00037
NM_003235.5(TG):c.6183A>G (p.Gly2061=) rs140029414 0.00036
NM_003235.5(TG):c.6605C>G (p.Pro2202Arg) rs150133670 0.00035
NM_003235.5(TG):c.7753C>T (p.Arg2585Trp) rs114211101 0.00032
NM_003235.5(TG):c.2502G>A (p.Pro834=) rs138731686 0.00029
NM_003235.5(TG):c.8147C>T (p.Ser2716Phe) rs115574138 0.00029
NM_003235.5(TG):c.5864-7T>C rs199728785 0.00027
NM_003235.5(TG):c.176+9T>C rs746855569 0.00026
NM_003235.5(TG):c.198C>T (p.Asp66=) rs141082783 0.00025
NM_003235.5(TG):c.3351G>A (p.Leu1117=) rs772475658 0.00025
NM_003235.5(TG):c.3985G>A (p.Gly1329Ser) rs192226069 0.00025
NM_003235.5(TG):c.60T>C (p.Asn20=) rs140030312 0.00024
NM_003235.5(TG):c.4743C>T (p.Phe1581=) rs146574874 0.00022
NM_003235.5(TG):c.6885C>T (p.Asn2295=) rs149348416 0.00022
NM_003235.5(TG):c.1020C>T (p.Asp340=) rs138114586 0.00021
NM_003235.5(TG):c.6324G>A (p.Arg2108=) rs186519521 0.00020
NM_003235.5(TG):c.1389C>T (p.Asn463=) rs145681459 0.00019
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) rs199615848 0.00019
NM_003235.5(TG):c.4551C>T (p.Asn1517=) rs201764119 0.00019
NM_003235.5(TG):c.4638C>T (p.Gly1546=) rs116663504 0.00018
NM_003235.5(TG):c.6191A>G (p.Gln2064Arg) rs143645885 0.00017
NM_003235.5(TG):c.2560C>T (p.Arg854Trp) rs202196940 0.00016
NM_003235.5(TG):c.3174C>T (p.Phe1058=) rs140301550 0.00016
NM_003235.5(TG):c.4851C>T (p.Thr1617=) rs150485524 0.00016
NM_003235.5(TG):c.4862C>A (p.Thr1621Lys) rs112003182 0.00016
NM_003235.5(TG):c.5071C>T (p.Arg1691Cys) rs375968742 0.00015
NM_003235.5(TG):c.5863+14G>A rs758834729 0.00014
NM_003235.5(TG):c.5864-8C>T rs189500765 0.00014
NM_003235.5(TG):c.981G>A (p.Ala327=) rs146255464 0.00014
NM_003235.5(TG):c.3081C>T (p.Tyr1027=) rs751672678 0.00013
NM_003235.5(TG):c.4257G>A (p.Ala1419=) rs116314916 0.00013
NM_003235.5(TG):c.4268G>A (p.Arg1423His) rs146594373 0.00013
NM_003235.5(TG):c.1628C>G (p.Thr543Ser) rs763864684 0.00011
NM_003235.5(TG):c.2652A>C (p.Ser884=) rs115199914 0.00011
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_003235.5(TG):c.4990G>A (p.Val1664Met) rs180705321 0.00011
NM_003235.5(TG):c.5402-8C>T rs374306199 0.00011
NM_003235.5(TG):c.7020C>T (p.Phe2340=) rs756155224 0.00011
NM_003235.5(TG):c.3666G>A (p.Ser1222=) rs148440690 0.00010
NM_003235.5(TG):c.5718C>T (p.Leu1906=) rs145744799 0.00010
NM_003235.5(TG):c.1021G>C (p.Ala341Pro) rs759789389 0.00009
NM_003235.5(TG):c.6498T>C (p.Ser2166=) rs200367054 0.00009
NM_003235.5(TG):c.2295C>T (p.Thr765=) rs199983151 0.00008
NM_003235.5(TG):c.2330C>T (p.Pro777Leu) rs3739274 0.00008
NM_003235.5(TG):c.4443C>T (p.Tyr1481=) rs201691879 0.00008
NM_003235.5(TG):c.4797C>T (p.Pro1599=) rs369301609 0.00008
NM_003235.5(TG):c.6769G>A (p.Ala2257Thr) rs199683856 0.00008
NM_003235.5(TG):c.7640T>A (p.Leu2547Gln) rs2979042 0.00008
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu) rs142124591 0.00007
NM_003235.5(TG):c.3930C>T (p.Tyr1310=) rs143023529 0.00007
NM_003235.5(TG):c.4093A>T (p.Asn1365Tyr) rs142264604 0.00007
NM_003235.5(TG):c.7136G>A (p.Arg2379His) rs377043149 0.00007
NM_003235.5(TG):c.3417G>C (p.Ser1139=) rs115789271 0.00006
NM_003235.5(TG):c.554C>T (p.Ala185Val) rs142432006 0.00006
NM_003235.5(TG):c.138A>G (p.Ala46=) rs751930232 0.00005
NM_003235.5(TG):c.3171G>C (p.Gly1057=) rs772388199 0.00005
NM_003235.5(TG):c.3180T>C (p.Pro1060=) rs1015200934 0.00005
NM_003235.5(TG):c.4746C>T (p.Asp1582=) rs374297725 0.00005
NM_003235.5(TG):c.105G>A (p.Glu35=) rs374559000 0.00004
NM_003235.5(TG):c.1098C>T (p.Ser366=) rs763257831 0.00004
NM_003235.5(TG):c.195C>T (p.Asn65=) rs370206088 0.00004
NM_003235.5(TG):c.2184G>A (p.Thr728=) rs745749489 0.00004
NM_003235.5(TG):c.2762-4C>T rs372101475 0.00004
NM_003235.5(TG):c.3835C>T (p.Arg1279Trp) rs368926894 0.00004
NM_003235.5(TG):c.475C>T (p.Arg159Ter) rs759267330 0.00004
NM_003235.5(TG):c.5304C>G (p.Pro1768=) rs752715398 0.00004
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter) rs754658907 0.00004
NM_003235.5(TG):c.6529C>T (p.Arg2177Cys) rs555719562 0.00004
NM_003235.5(TG):c.6565A>G (p.Ile2189Val) rs140792871 0.00004
NM_003235.5(TG):c.8075C>T (p.Ala2692Val) rs775377530 0.00004
NM_003235.5(TG):c.372G>A (p.Gly124=) rs768162926 0.00003
NM_003235.5(TG):c.4713T>C (p.Phe1571=) rs755948833 0.00003
NM_003235.5(TG):c.6304G>C (p.Val2102Leu) rs1022412169 0.00003
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter) rs375424292 0.00003
NM_003235.5(TG):c.6701C>A (p.Ala2234Asp) rs370991693 0.00003
NM_003235.5(TG):c.6945G>A (p.Pro2315=) rs769872031 0.00003
NM_003235.5(TG):c.7239+4A>C rs763128813 0.00003
NM_003235.5(TG):c.8238G>A (p.Thr2746=) rs200646022 0.00003
NM_003235.5(TG):c.913C>A (p.Arg305=) rs367625126 0.00003
NM_003235.5(TG):c.1333C>T (p.Arg445Ter) rs748309986 0.00002
NM_003235.5(TG):c.2064T>C (p.Thr688=) rs777212535 0.00002
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) rs752966476 0.00002
NM_003235.5(TG):c.555G>A (p.Ala185=) rs374108215 0.00002
NM_003235.5(TG):c.5592C>T (p.Val1864=) rs765083226 0.00002
NM_003235.5(TG):c.639-4C>T rs1335048692 0.00002
NM_003235.5(TG):c.6707C>T (p.Pro2236Leu) rs145564745 0.00002
NM_003235.5(TG):c.7647C>T (p.Gly2549=) rs200261320 0.00002
NM_003235.5(TG):c.1143del (p.Tyr382fs) rs778849740 0.00001
NM_003235.5(TG):c.1834C>A (p.Pro612Thr) rs552359043 0.00001
NM_003235.5(TG):c.217G>A (p.Val73Met) rs780845778 0.00001
NM_003235.5(TG):c.2964T>C (p.Arg988=) rs1165246665 0.00001
NM_003235.5(TG):c.3176T>C (p.Ile1059Thr) rs1016185504 0.00001
NM_003235.5(TG):c.3603G>A (p.Thr1201=) rs750765107 0.00001
NM_003235.5(TG):c.3618C>A (p.Gly1206=) rs1319696698 0.00001
NM_003235.5(TG):c.366T>C (p.Asp122=) rs1305669241 0.00001
NM_003235.5(TG):c.3856C>A (p.Leu1286Met) rs1064796627 0.00001
NM_003235.5(TG):c.385G>A (p.Val129Ile) rs115677932 0.00001
NM_003235.5(TG):c.3964T>C (p.Leu1322=) rs886062707 0.00001
NM_003235.5(TG):c.4023G>T (p.Leu1341=) rs774972059 0.00001
NM_003235.5(TG):c.4110A>T (p.Ser1370=) rs116572763 0.00001
NM_003235.5(TG):c.4159+13G>A rs779146886 0.00001
NM_003235.5(TG):c.4671G>A (p.Glu1557=) rs1384674900 0.00001
NM_003235.5(TG):c.479G>C (p.Cys160Ser) rs775401701 0.00001
NM_003235.5(TG):c.5391G>A (p.Glu1797=) rs1186316718 0.00001
NM_003235.5(TG):c.5571C>T (p.Ser1857=) rs765878737 0.00001
NM_003235.5(TG):c.5686+1G>T rs374620255 0.00001
NM_003235.5(TG):c.5835G>C (p.Gln1945His) rs1244764731 0.00001
NM_003235.5(TG):c.5895C>A (p.Tyr1965Ter) rs1255388549 0.00001
NM_003235.5(TG):c.5976-15C>T rs367703716 0.00001
NM_003235.5(TG):c.6300A>G (p.Ser2100=) rs1164638579 0.00001
NM_003235.5(TG):c.6622C>T (p.Arg2208Trp) rs750846435 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003235.5(TG):c.6876+9A>C rs765695331 0.00001
NM_003235.5(TG):c.6888G>A (p.Ala2296=) rs372742222 0.00001
NM_003235.5(TG):c.7056C>A (p.Gly2352=) rs758701097 0.00001
NM_003235.5(TG):c.7140G>A (p.Val2380=) rs200271929 0.00001
NM_003235.5(TG):c.85C>T (p.Gln29Ter) rs1554648860 0.00001
NC_000008.10:g.(?_133879246)_(133941457_?)del
NC_000008.10:g.(?_133881954)_(133906194_?)del
NC_000008.10:g.(?_133894088)_(133920605_?)dup
NC_000008.10:g.(?_133911148)_(133916340_?)del
NC_000008.10:g.(?_133914099)_(133919075_?)del
NC_000008.10:g.(?_133945786)_(133945941_?)del
NC_000008.10:g.(?_134024126)_(134042288_?)del
NM_003235.5(TG):c.1002G>A (p.Gly334=)
NM_003235.5(TG):c.1011del (p.Trp337fs)
NM_003235.5(TG):c.1017G>C (p.Val339=)
NM_003235.5(TG):c.1021_1022insTCCG (p.Ala341fs)
NM_003235.5(TG):c.1026G>A (p.Gln342=)
NM_003235.5(TG):c.1029G>A (p.Gly343=)
NM_003235.5(TG):c.1041T>C (p.His347=)
NM_003235.5(TG):c.1048C>A (p.Arg350=)
NM_003235.5(TG):c.1054C>T (p.Gln352Ter)
NM_003235.5(TG):c.1056A>G (p.Gln352=)
NM_003235.5(TG):c.1065G>A (p.Pro355=) rs1194681596
NM_003235.5(TG):c.1065G>T (p.Pro355=)
NM_003235.5(TG):c.1075+10C>T
NM_003235.5(TG):c.1075+12C>T
NM_003235.5(TG):c.1075+16G>A
NM_003235.5(TG):c.1075+17G>A
NM_003235.5(TG):c.1075+18G>T
NM_003235.5(TG):c.1075+19C>A
NM_003235.5(TG):c.1075+19C>T
NM_003235.5(TG):c.1076-10T>C
NM_003235.5(TG):c.1076-12T>C
NM_003235.5(TG):c.1076-6A>G
NM_003235.5(TG):c.1076-7del
NM_003235.5(TG):c.1077T>C (p.Ala359=)
NM_003235.5(TG):c.108G>T (p.Leu36=)
NM_003235.5(TG):c.1099G>T (p.Glu367Ter) rs146293727
NM_003235.5(TG):c.1105C>T (p.Gln369Ter)
NM_003235.5(TG):c.1107G>A (p.Gln369=)
NM_003235.5(TG):c.1119C>T (p.Ser373=)
NM_003235.5(TG):c.1122A>G (p.Arg374=)
NM_003235.5(TG):c.1125C>A (p.Leu375=)
NM_003235.5(TG):c.1140A>G (p.Ser380=)
NM_003235.5(TG):c.1143C>T (p.Gly381=)
NM_003235.5(TG):c.1146C>G (p.Tyr382Ter)
NM_003235.5(TG):c.1155G>A (p.Gln385=)
NM_003235.5(TG):c.1158C>T (p.His386=)
NM_003235.5(TG):c.115G>T (p.Glu39Ter)
NM_003235.5(TG):c.1164G>A (p.Leu388=)
NM_003235.5(TG):c.1164G>C (p.Leu388=)
NM_003235.5(TG):c.1175_1176del (p.Pro392fs)
NM_003235.5(TG):c.117A>G (p.Glu39=)
NM_003235.5(TG):c.1191C>T (p.Ala397=)
NM_003235.5(TG):c.1197A>G (p.Pro399=)
NM_003235.5(TG):c.1200A>G (p.Arg400=)
NM_003235.5(TG):c.120G>A (p.Thr40=)
NM_003235.5(TG):c.1212T>C (p.Phe404=)
NM_003235.5(TG):c.1215C>T (p.Ala405=)
NM_003235.5(TG):c.1221C>T (p.Ser407=) rs1563908759
NM_003235.5(TG):c.1224C>T (p.Cys408=)
NM_003235.5(TG):c.1233G>A (p.Thr411=) rs886062702
NM_003235.5(TG):c.1233G>C (p.Thr411=)
NM_003235.5(TG):c.1242G>A (p.Glu414=)
NM_003235.5(TG):c.1254C>T (p.Asp418=)
NM_003235.5(TG):c.1266C>T (p.Leu422=)
NM_003235.5(TG):c.1272A>T (p.Pro424=)
NM_003235.5(TG):c.1284A>G (p.Gly428=)
NM_003235.5(TG):c.12C>A (p.Val4=)
NM_003235.5(TG):c.1301_1302del (p.Ser434fs)
NM_003235.5(TG):c.1308A>C (p.Ser436=)
NM_003235.5(TG):c.132G>A (p.Lys44=)
NM_003235.5(TG):c.1348del (p.Ser450fs)
NM_003235.5(TG):c.1351C>T (p.Arg451Ter) rs773142559
NM_003235.5(TG):c.1356G>T (p.Gly452=)
NM_003235.5(TG):c.1380T>C (p.Phe460=)
NM_003235.5(TG):c.138A>C (p.Ala46=) rs751930232
NM_003235.5(TG):c.1401C>G (p.Leu467=)
NM_003235.5(TG):c.1410C>T (p.Asn470=)
NM_003235.5(TG):c.1419A>G (p.Gly473=)
NM_003235.5(TG):c.1425A>G (p.Lys475=)
NM_003235.5(TG):c.147G>C (p.Val49=)
NM_003235.5(TG):c.1482A>G (p.Thr494=)
NM_003235.5(TG):c.1482A>T (p.Thr494=)
NM_003235.5(TG):c.1495C>T (p.Gln499Ter)
NM_003235.5(TG):c.1497A>G (p.Gln499=)
NM_003235.5(TG):c.150C>G (p.Pro50=)
NM_003235.5(TG):c.151C>T (p.Gln51Ter)
NM_003235.5(TG):c.1521A>G (p.Ala507=)
NM_003235.5(TG):c.1524C>T (p.Ser508=)
NM_003235.5(TG):c.1566C>G (p.Leu522=)
NM_003235.5(TG):c.1572G>A (p.Val524=)
NM_003235.5(TG):c.1590T>C (p.Ser530=)
NM_003235.5(TG):c.1596A>G (p.Thr532=)
NM_003235.5(TG):c.1612_1613insGTTAAGGTTAAG (p.Ala538delinsGlyTer) rs1587248925
NM_003235.5(TG):c.1623T>C (p.Asp541=)
NM_003235.5(TG):c.1653C>T (p.Ser551=)
NM_003235.5(TG):c.1662T>C (p.Phe554=)
NM_003235.5(TG):c.1668T>C (p.Ile556=)
NM_003235.5(TG):c.1671C>T (p.Asn557=)
NM_003235.5(TG):c.1674A>G (p.Leu558=)
NM_003235.5(TG):c.1674A>T (p.Leu558=)
NM_003235.5(TG):c.1675del (p.Gln559fs)
NM_003235.5(TG):c.1680G>A (p.Glu560=)
NM_003235.5(TG):c.1683C>T (p.Asn561=) rs1022148195
NM_003235.5(TG):c.1695_1696del (p.Lys566fs)
NM_003235.5(TG):c.1714del (p.Leu572fs)
NM_003235.5(TG):c.1719G>A (p.Glu573=)
NM_003235.5(TG):c.171C>T (p.Ser57=)
NM_003235.5(TG):c.1731C>T (p.Phe577=)
NM_003235.5(TG):c.1734T>C (p.Leu578=)
NM_003235.5(TG):c.1737C>G (p.Leu579=)
NM_003235.5(TG):c.176+12G>A
NM_003235.5(TG):c.176+16G>A
NM_003235.5(TG):c.176+20C>T
NM_003235.5(TG):c.177-11C>T
NM_003235.5(TG):c.177-13G>A
NM_003235.5(TG):c.177-19G>A
NM_003235.5(TG):c.1775C>T (p.Ala592Val)
NM_003235.5(TG):c.1777A>C (p.Arg593=)
NM_003235.5(TG):c.1788T>A (p.Gly596=) rs1587249824
NM_003235.5(TG):c.1803G>A (p.Thr601=)
NM_003235.5(TG):c.1803G>C (p.Thr601=)
NM_003235.5(TG):c.1816C>T (p.Gln606Ter)
NM_003235.5(TG):c.1831_1841del (p.Thr611fs)
NM_003235.5(TG):c.1833A>T (p.Thr611=)
NM_003235.5(TG):c.1840A>C (p.Arg614=)
NM_003235.5(TG):c.1845A>G (p.Leu615=)
NM_003235.5(TG):c.1854A>G (p.Pro618=)
NM_003235.5(TG):c.1863G>A (p.Thr621=)
NM_003235.5(TG):c.1872A>T (p.Gly624=)
NM_003235.5(TG):c.1887C>T (p.Val629=)
NM_003235.5(TG):c.1890A>T (p.Gln630His)
NM_003235.5(TG):c.1899C>T (p.Ser633=)
NM_003235.5(TG):c.1919A>G (p.Asn640Ser)
NM_003235.5(TG):c.1946C>G (p.Ser649Ter)
NM_003235.5(TG):c.1965G>A (p.Gln655=)
NM_003235.5(TG):c.1971G>A (p.Arg657=)
NM_003235.5(TG):c.1974C>T (p.Cys658=)
NM_003235.5(TG):c.1978del (p.Thr660fs)
NM_003235.5(TG):c.2031T>G (p.Pro677=)
NM_003235.5(TG):c.2043C>T (p.Thr681=)
NM_003235.5(TG):c.2058T>C (p.Ala686=)
NM_003235.5(TG):c.2076T>C (p.His692=)
NM_003235.5(TG):c.2079C>T (p.Phe693=)
NM_003235.5(TG):c.207C>T (p.Ser69=)
NM_003235.5(TG):c.2088C>T (p.Val696=)
NM_003235.5(TG):c.2091G>A (p.Gln697=)
NM_003235.5(TG):c.2103A>G (p.Ser701=)
NM_003235.5(TG):c.2127G>A (p.Glu709=)
NM_003235.5(TG):c.2136C>T (p.Ala712=)
NM_003235.5(TG):c.2142T>A (p.Pro714=)
NM_003235.5(TG):c.2145A>G (p.Gly715=)
NM_003235.5(TG):c.2149C>T (p.Arg717Ter)
NM_003235.5(TG):c.2151A>C (p.Arg717=)
NM_003235.5(TG):c.2176+12G>A
NM_003235.5(TG):c.2176+13G>C
NM_003235.5(TG):c.2176+17T>C
NM_003235.5(TG):c.2176+1G>C
NM_003235.5(TG):c.2177-12G>T
NM_003235.5(TG):c.2177-16C>A
NM_003235.5(TG):c.2177-19G>T
NM_003235.5(TG):c.2177-1_2182del
NM_003235.5(TG):c.2177-5C>T
NM_003235.5(TG):c.2177-6C>T
NM_003235.5(TG):c.2177-7T>A
NM_003235.5(TG):c.2177-8C>A
NM_003235.5(TG):c.2200T>G (p.Ser734Ala) rs180223
NM_003235.5(TG):c.2202T>C (p.Ser734=)
NM_003235.5(TG):c.2206C>T (p.Gln736Ter)
NM_003235.5(TG):c.2217C>A (p.Leu739=)
NM_003235.5(TG):c.2223G>A (p.Thr741=)
NM_003235.5(TG):c.2223G>C (p.Thr741=)
NM_003235.5(TG):c.2223G>T (p.Thr741=) rs779145179
NM_003235.5(TG):c.2234dup (p.Leu746fs) rs1815680018
NM_003235.5(TG):c.2241dup (p.Asn748Ter)
NM_003235.5(TG):c.225C>A (p.Ala75=)
NM_003235.5(TG):c.2262C>G (p.Thr754=)
NM_003235.5(TG):c.2268C>T (p.Ser756=)
NM_003235.5(TG):c.2277C>T (p.Tyr759=)
NM_003235.5(TG):c.2283A>C (p.Pro761=)
NM_003235.5(TG):c.2286del (p.Gln762fs)
NM_003235.5(TG):c.2289C>T (p.Cys763=)
NM_003235.5(TG):c.228C>T (p.Asn76=)
NM_003235.5(TG):c.2304G>A (p.Gln768=)
NM_003235.5(TG):c.2310A>G (p.Arg770=)
NM_003235.5(TG):c.2311C>T (p.Gln771Ter)
NM_003235.5(TG):c.2316G>A (p.Val772=)
NM_003235.5(TG):c.2328G>A (p.Gly776=)
NM_003235.5(TG):c.2340G>A (p.Gln780=)
NM_003235.5(TG):c.2346C>T (p.Phe782=)
NM_003235.5(TG):c.2358A>G (p.Gln786=)
NM_003235.5(TG):c.2361A>G (p.Arg787=)
NM_003235.5(TG):c.2394G>A (p.Thr798=)
NM_003235.5(TG):c.2409A>G (p.Leu803=)
NM_003235.5(TG):c.2418C>T (p.Ile806=)
NM_003235.5(TG):c.2427_2428del (p.Tyr809_Arg810delinsTer)
NM_003235.5(TG):c.2431G>T (p.Glu811Ter)
NM_003235.5(TG):c.2442C>T (p.Ser814=)
NM_003235.5(TG):c.2443G>T (p.Gly815Ter) rs16904774
NM_003235.5(TG):c.2457C>G (p.Leu819=)
NM_003235.5(TG):c.246C>G (p.Gly82=)
NM_003235.5(TG):c.246C>T (p.Gly82=)
NM_003235.5(TG):c.2472G>A (p.Leu824=)
NM_003235.5(TG):c.2475T>A (p.Tyr825Ter)
NM_003235.5(TG):c.2496C>G (p.Val832=)
NM_003235.5(TG):c.2496C>T (p.Val832=)
NM_003235.5(TG):c.2505G>A (p.Val835=)
NM_003235.5(TG):c.2517C>T (p.Tyr839=)
NM_003235.5(TG):c.2524C>T (p.Leu842=)
NM_003235.5(TG):c.2529A>G (p.Gln843=)
NM_003235.5(TG):c.252G>A (p.Arg84=)
NM_003235.5(TG):c.2535C>G (p.Val845=)
NM_003235.5(TG):c.2535C>T (p.Val845=)
NM_003235.5(TG):c.253C>T (p.Gln85Ter)
NM_003235.5(TG):c.2541A>G (p.Leu847=)
NM_003235.5(TG):c.2550G>A (p.Leu850=)
NM_003235.5(TG):c.2566C>T (p.Gln856Ter)
NM_003235.5(TG):c.2568G>A (p.Gln856=)
NM_003235.5(TG):c.2574G>A (p.Arg858=)
NM_003235.5(TG):c.2577G>A (p.Glu859=)
NM_003235.5(TG):c.2581A>G (p.Ile861Val) rs527511755
NM_003235.5(TG):c.2592G>A (p.Glu864=)
NM_003235.5(TG):c.2595C>T (p.Pro865=)
NM_003235.5(TG):c.2622C>T (p.Gly874=)
NM_003235.5(TG):c.2623C>T (p.Gln875Ter)
NM_003235.5(TG):c.2625A>G (p.Gln875=)
NM_003235.5(TG):c.2637C>T (p.Tyr879=)
NM_003235.5(TG):c.2639C>G (p.Pro880Arg)
NM_003235.5(TG):c.2640G>A (p.Pro880=)
NM_003235.5(TG):c.2673A>G (p.Ala891=)
NM_003235.5(TG):c.2676T>C (p.His892=)
NM_003235.5(TG):c.2694C>T (p.Cys898=)
NM_003235.5(TG):c.2697G>C (p.Trp899Cys)
NM_003235.5(TG):c.2700T>C (p.Cys900=)
NM_003235.5(TG):c.2736G>A (p.Arg912=)
NM_003235.5(TG):c.2736G>T (p.Arg912=)
NM_003235.5(TG):c.274+13G>A
NM_003235.5(TG):c.274+14G>C
NM_003235.5(TG):c.274+15G>A
NM_003235.5(TG):c.274+15G>C
NM_003235.5(TG):c.274+16G>A
NM_003235.5(TG):c.274+17G>A
NM_003235.5(TG):c.274+19C>T
NM_003235.5(TG):c.274+19_274+20insTTACACTTACAAGGGAGTAAGGG
NM_003235.5(TG):c.274+1G>A
NM_003235.5(TG):c.274+20G>A
NM_003235.5(TG):c.274+20G>C
NM_003235.5(TG):c.274+2T>G
NM_003235.5(TG):c.275-13C>G
NM_003235.5(TG):c.275-13C>T
NM_003235.5(TG):c.275-14C>G
NM_003235.5(TG):c.275-15T>C
NM_003235.5(TG):c.275-16C>T
NM_003235.5(TG):c.275-17G>A
NM_003235.5(TG):c.275-9T>C
NM_003235.5(TG):c.275G>T (p.Cys92Phe) rs1313276149
NM_003235.5(TG):c.2760_2761del (p.Cys921fs)
NM_003235.5(TG):c.2761+10C>T
NM_003235.5(TG):c.2761+11G>A
NM_003235.5(TG):c.2761+11G>T rs77660463
NM_003235.5(TG):c.2761+13A>G
NM_003235.5(TG):c.2761+14T>A
NM_003235.5(TG):c.2761+16T>A
NM_003235.5(TG):c.2761+16T>C
NM_003235.5(TG):c.2761+20G>C
NM_003235.5(TG):c.2761+28TG[11] rs3832581
NM_003235.5(TG):c.2762-16A>G
NM_003235.5(TG):c.2762-17T>C
NM_003235.5(TG):c.2762-327C>T rs60207939
NM_003235.5(TG):c.2762-4del
NM_003235.5(TG):c.2762-6C>T
NM_003235.5(TG):c.2762-7C>A
NM_003235.5(TG):c.2762G>A (p.Cys921Tyr)
NM_003235.5(TG):c.2766T>C (p.Pro922=)
NM_003235.5(TG):c.2769C>A (p.Gly923=)
NM_003235.5(TG):c.2769C>G (p.Gly923=)
NM_003235.5(TG):c.2769C>T (p.Gly923=)
NM_003235.5(TG):c.2778G>A (p.Glu926=)
NM_003235.5(TG):c.2787G>A (p.Lys929=)
NM_003235.5(TG):c.2797C>T (p.Leu933=)
NM_003235.5(TG):c.279G>C (p.Leu93=)
NM_003235.5(TG):c.2800C>T (p.Gln934Ter)
NM_003235.5(TG):c.2805C>T (p.Phe935=)
NM_003235.5(TG):c.2817G>A (p.Thr939=)
NM_003235.5(TG):c.2817G>T (p.Thr939=)
NM_003235.5(TG):c.2823G>A (p.Glu941=)
NM_003235.5(TG):c.282A>G (p.Ser94=)
NM_003235.5(TG):c.2835T>A (p.Ala945=)
NM_003235.5(TG):c.2859G>T (p.Leu953=)
NM_003235.5(TG):c.2866_2867del (p.Ser956fs)
NM_003235.5(TG):c.2871C>T (p.Phe957=)
NM_003235.5(TG):c.2874G>T (p.Leu958=)
NM_003235.5(TG):c.288T>C (p.Cys96=)
NM_003235.5(TG):c.2890C>A (p.Arg964=)
NM_003235.5(TG):c.2893C>T (p.Leu965=)
NM_003235.5(TG):c.2907C>T (p.Asp969=)
NM_003235.5(TG):c.2913C>T (p.Gly971=)
NM_003235.5(TG):c.291G>A (p.Gln97=)
NM_003235.5(TG):c.2922G>A (p.Pro974=)
NM_003235.5(TG):c.2928C>T (p.Phe976=)
NM_003235.5(TG):c.292C>T (p.Leu98=)
NM_003235.5(TG):c.2931G>A (p.Pro977=)
NM_003235.5(TG):c.2931G>T (p.Pro977=)
NM_003235.5(TG):c.2934C>A (p.Pro978=)
NM_003235.5(TG):c.2934C>G (p.Pro978=)
NM_003235.5(TG):c.2937G>A (p.Arg979=)
NM_003235.5(TG):c.2946C>T (p.Phe982=)
NM_003235.5(TG):c.295C>T (p.Gln99Ter)
NM_003235.5(TG):c.2961G>A (p.Leu987=)
NM_003235.5(TG):c.2963G>A (p.Arg988His) rs16893332
NM_003235.5(TG):c.2963G>C (p.Arg988Pro) rs16893332
NM_003235.5(TG):c.2976C>T (p.Tyr992=)
NM_003235.5(TG):c.2985C>T (p.Arg995=)
NM_003235.5(TG):c.2988G>A (p.Leu996=)
NM_003235.5(TG):c.2991G>A (p.Ala997=)
NM_003235.5(TG):c.3001+14C>A
NM_003235.5(TG):c.3001+15C>G
NM_003235.5(TG):c.3001+16T>G
NM_003235.5(TG):c.3001+17del
NM_003235.5(TG):c.3001+19A>G
NM_003235.5(TG):c.3001+5G>A
NM_003235.5(TG):c.3002-11C>T
NM_003235.5(TG):c.3002-7A>T
NM_003235.5(TG):c.3003C>T (p.Thr1001=)
NM_003235.5(TG):c.300A>G (p.Lys100=)
NM_003235.5(TG):c.3016C>T (p.Gln1006Ter)
NM_003235.5(TG):c.301C>T (p.Gln101Ter)
NM_003235.5(TG):c.3024C>A (p.Arg1008=)
NM_003235.5(TG):c.3030T>C (p.Phe1010=)
NM_003235.5(TG):c.3036G>A (p.Pro1012=)
NM_003235.5(TG):c.3039C>T (p.Asp1013=)
NM_003235.5(TG):c.3042C>T (p.Asp1014=)
NM_003235.5(TG):c.3045G>A (p.Ser1015=)
NM_003235.5(TG):c.3063T>G (p.Leu1021=)
NM_003235.5(TG):c.3069G>A (p.Arg1023=)
NM_003235.5(TG):c.3071C>A (p.Ser1024Ter)
NM_003235.5(TG):c.3072G>A (p.Ser1024=)
NM_003235.5(TG):c.3081_3082inv (p.Met1028Val)
NM_003235.5(TG):c.3090G>A (p.Gln1030=)
NM_003235.5(TG):c.3099G>A (p.Ala1033=)
NM_003235.5(TG):c.3099G>C (p.Ala1033=)
NM_003235.5(TG):c.30G>A (p.Leu10=)
NM_003235.5(TG):c.3111G>A (p.Trp1037Ter)
NM_003235.5(TG):c.3120G>A (p.Val1040=)
NM_003235.5(TG):c.3120del (p.Gln1041fs)
NM_003235.5(TG):c.3126C>A (p.Cys1042Ter)
NM_003235.5(TG):c.3139+10G>A
NM_003235.5(TG):c.3139+13A>G
NM_003235.5(TG):c.3139+16C>T
NM_003235.5(TG):c.3139+18C>T
NM_003235.5(TG):c.3139+20T>C
NM_003235.5(TG):c.3139+8G>A
NM_003235.5(TG):c.3140-12G>T
NM_003235.5(TG):c.3140-2A>G
NM_003235.5(TG):c.3147_3157del (p.Cys1049_Asp1053delinsTer)
NM_003235.5(TG):c.3153T>C (p.Cys1051=)
NM_003235.5(TG):c.3171G>A (p.Gly1057=)
NM_003235.5(TG):c.3171G>T (p.Gly1057=)
NM_003235.5(TG):c.3196C>T (p.Arg1066Cys)
NM_003235.5(TG):c.3205C>T (p.Gln1069Ter)
NM_003235.5(TG):c.3207G>A (p.Gln1069=)
NM_003235.5(TG):c.3214C>T (p.Gln1072Ter)
NM_003235.5(TG):c.3217+11A>T
NM_003235.5(TG):c.3217+14G>A
NM_003235.5(TG):c.3217+19G>C
NM_003235.5(TG):c.3217+19G>T
NM_003235.5(TG):c.3217+5G>A rs2132264436
NM_003235.5(TG):c.3218-11C>G
NM_003235.5(TG):c.3218-13C>T
NM_003235.5(TG):c.3218-15CT[3]
NM_003235.5(TG):c.3218-16C>T
NM_003235.5(TG):c.3218-7C>T
NM_003235.5(TG):c.3218-81T>G rs853324
NM_003235.5(TG):c.3218-9C>T
NM_003235.5(TG):c.3222G>A (p.Pro1074=)
NM_003235.5(TG):c.3231C>A (p.Cys1077Ter)
NM_003235.5(TG):c.3231C>T (p.Cys1077=)
NM_003235.5(TG):c.3240T>C (p.Ser1080=)
NM_003235.5(TG):c.3241C>A (p.Arg1081=)
NM_003235.5(TG):c.3241C>T (p.Arg1081Ter)
NM_003235.5(TG):c.3246C>T (p.Thr1082=)
NM_003235.5(TG):c.324C>T (p.Tyr108=)
NM_003235.5(TG):c.3252G>A (p.Gly1084=)
NM_003235.5(TG):c.3252G>T (p.Gly1084=)
NM_003235.5(TG):c.3273G>A (p.Gln1091=)
NM_003235.5(TG):c.3282C>G (p.Ser1094=)
NM_003235.5(TG):c.3307C>T (p.Leu1103=)
NM_003235.5(TG):c.3312C>T (p.Phe1104=)
NM_003235.5(TG):c.3315C>T (p.Val1105=)
NM_003235.5(TG):c.3327A>G (p.Leu1109=)
NM_003235.5(TG):c.3330+11G>A
NM_003235.5(TG):c.3330+15G>A
NM_003235.5(TG):c.3330+20G>A
NM_003235.5(TG):c.3331-13G>C
NM_003235.5(TG):c.3331-14C>T
NM_003235.5(TG):c.3331-16C>T
NM_003235.5(TG):c.3331-17C>T
NM_003235.5(TG):c.3360G>A (p.Ser1120=)
NM_003235.5(TG):c.3364del (p.Ala1122fs)
NM_003235.5(TG):c.3367G>A (p.Gly1123Ser) rs1057524360
NM_003235.5(TG):c.3369C>A (p.Gly1123=)
NM_003235.5(TG):c.3369C>T (p.Gly1123=)
NM_003235.5(TG):c.3372C>A (p.Thr1124=)
NM_003235.5(TG):c.3387T>C (p.Pro1129=)
NM_003235.5(TG):c.3390A>C (p.Ala1130=)
NM_003235.5(TG):c.3390A>G (p.Ala1130=)
NM_003235.5(TG):c.339C>T (p.Asp113=)
NM_003235.5(TG):c.3402G>A (p.Glu1134=)
NM_003235.5(TG):c.3403T>C (p.Leu1135=)
NM_003235.5(TG):c.3414C>A (p.Gly1138=)
NM_003235.5(TG):c.3414C>G (p.Gly1138=)
NM_003235.5(TG):c.3417G>A (p.Ser1139=)
NM_003235.5(TG):c.3420C>T (p.Ser1140=)
NM_003235.5(TG):c.3431dup (p.Cys1145fs)
NM_003235.5(TG):c.3433+12C>G
NM_003235.5(TG):c.3433+15C>A
NM_003235.5(TG):c.3433+16T>A
NM_003235.5(TG):c.3433+17C>G
NM_003235.5(TG):c.3433+8G>A
NM_003235.5(TG):c.3434-17G>A
NM_003235.5(TG):c.3434-20C>T
NM_003235.5(TG):c.3434-7G>T
NM_003235.5(TG):c.3434-9C>G
NM_003235.5(TG):c.3438A>G (p.Pro1146=)
NM_003235.5(TG):c.3441C>T (p.Ser1147=)
NM_003235.5(TG):c.3450T>C (p.Asn1150=)
NM_003235.5(TG):c.345C>A (p.Ser115=)
NM_003235.5(TG):c.3491G>T (p.Gly1164Val) rs760317901
NM_003235.5(TG):c.3495T>C (p.Tyr1165=)
NM_003235.5(TG):c.3516G>A (p.Glu1172=)
NM_003235.5(TG):c.3522G>A (p.Gly1174=)
NM_003235.5(TG):c.3529del (p.Ser1177fs) rs1554662694
NM_003235.5(TG):c.3534A>G (p.Pro1178=)
NM_003235.5(TG):c.3537G>A (p.Val1179=)
NM_003235.5(TG):c.3546C>T (p.Asp1182=)
NM_003235.5(TG):c.354T>C (p.Pro118=)
NM_003235.5(TG):c.3553C>T (p.Gln1185Ter)
NM_003235.5(TG):c.355C>T (p.Gln119Ter)
NM_003235.5(TG):c.3566G>A (p.Trp1189Ter)
NM_003235.5(TG):c.3582C>T (p.Ser1194=)
NM_003235.5(TG):c.3585A>G (p.Gly1195=)
NM_003235.5(TG):c.3601_3616del (p.Thr1201fs)
NM_003235.5(TG):c.3606C>T (p.Arg1202=)
NM_003235.5(TG):c.3612C>G (p.Thr1204=)
NM_003235.5(TG):c.3612C>T (p.Thr1204=)
NM_003235.5(TG):c.3612_3627del (p.Gly1205fs)
NM_003235.5(TG):c.3612dup (p.Gly1205fs)
NM_003235.5(TG):c.3615G>A (p.Gly1205=)
NM_003235.5(TG):c.3618C>T (p.Gly1206=)
NM_003235.5(TG):c.3624C>T (p.Pro1208=)
NM_003235.5(TG):c.3634+11A>G
NM_003235.5(TG):c.3634+12C>T
NM_003235.5(TG):c.3634+16C>G
NM_003235.5(TG):c.3634+16del
NM_003235.5(TG):c.3634+19G>A
NM_003235.5(TG):c.3634+1G>A
NM_003235.5(TG):c.3634+7C>A
NM_003235.5(TG):c.3634+8A>G
NM_003235.5(TG):c.3635-15C>T
NM_003235.5(TG):c.3635-17C>T
NM_003235.5(TG):c.3635-5C>G
NM_003235.5(TG):c.3638C>A (p.Pro1213Gln) rs754194585
NM_003235.5(TG):c.3639G>A (p.Pro1213=) rs372801449
NM_003235.5(TG):c.3639G>C (p.Pro1213=)
NM_003235.5(TG):c.3648G>A (p.Pro1216=)
NM_003235.5(TG):c.3652_3653delinsAT (p.Pro1218Ile) rs2132331772
NM_003235.5(TG):c.3660C>T (p.Asn1220=)
NM_003235.5(TG):c.3663G>A (p.Ala1221=)
NM_003235.5(TG):c.3677del (p.Gly1226fs)
NM_003235.5(TG):c.3694_3697dup (p.Thr1233fs)
NM_003235.5(TG):c.3696G>A (p.Glu1232=)
NM_003235.5(TG):c.3699A>C (p.Thr1233=)
NM_003235.5(TG):c.3699A>G (p.Thr1233=)
NM_003235.5(TG):c.3702C>A (p.Ile1234=)
NM_003235.5(TG):c.3705G>A (p.Ser1235=)
NM_003235.5(TG):c.3711C>A (p.Pro1237=)
NM_003235.5(TG):c.3723C>A (p.Ala1241=)
NM_003235.5(TG):c.3727C>G (p.Gln1243Glu)
NM_003235.5(TG):c.3729G>A (p.Gln1243=)
NM_003235.5(TG):c.3735C>T (p.Cys1245=)
NM_003235.5(TG):c.3738A>G (p.Gln1246=)
NM_003235.5(TG):c.3739T>C (p.Leu1247=)
NM_003235.5(TG):c.3749G>T (p.Arg1250Leu) rs114944116
NM_003235.5(TG):c.3765C>T (p.Ser1255=)
NM_003235.5(TG):c.3766G>A (p.Val1256Met)
NM_003235.5(TG):c.3783A>G (p.Pro1261=)
NM_003235.5(TG):c.378C>T (p.Tyr126=)
NM_003235.5(TG):c.3790T>C (p.Cys1264Arg)
NM_003235.5(TG):c.3795C>T (p.Ser1265=)
NM_003235.5(TG):c.3796C>T (p.Leu1266=)
NM_003235.5(TG):c.380C>T (p.Ala127Val)
NM_003235.5(TG):c.3810C>A (p.Arg1270=)
NM_003235.5(TG):c.3810C>T (p.Arg1270=)
NM_003235.5(TG):c.381G>A (p.Ala127=)
NM_003235.5(TG):c.3831G>A (p.Gln1277=)
NM_003235.5(TG):c.3836G>A (p.Arg1279Gln)
NM_003235.5(TG):c.3847+10A>G
NM_003235.5(TG):c.3847+16G>A
NM_003235.5(TG):c.3847+18A>G
NM_003235.5(TG):c.3847+19T>C
NM_003235.5(TG):c.3847+1G>A
NM_003235.5(TG):c.3847+1G>C
NM_003235.5(TG):c.3847+20C>A
NM_003235.5(TG):c.3847+20C>G
NM_003235.5(TG):c.3847+20C>T
NM_003235.5(TG):c.3847+8G>A
NM_003235.5(TG):c.3848-12G>C
NM_003235.5(TG):c.3848-17C>T
NM_003235.5(TG):c.3848-6C>T
NM_003235.5(TG):c.3848-7C>G
NM_003235.5(TG):c.3848-8G>T
NM_003235.5(TG):c.3852C>G (p.Pro1284=)
NM_003235.5(TG):c.385G>C (p.Val129Leu)
NM_003235.5(TG):c.3860G>A (p.Trp1287Ter)
NM_003235.5(TG):c.3870C>A (p.Ile1290=)
NM_003235.5(TG):c.3879A>G (p.Gln1293=)
NM_003235.5(TG):c.3889C>T (p.Gln1297Ter)
NM_003235.5(TG):c.3894C>A (p.Leu1298=) rs766474626
NM_003235.5(TG):c.3894C>T (p.Leu1298=)
NM_003235.5(TG):c.3903G>A (p.Pro1301=)
NM_003235.5(TG):c.3903G>T (p.Pro1301=)
NM_003235.5(TG):c.3912G>A (p.Lys1304=) rs886062706
NM_003235.5(TG):c.3930C>A (p.Tyr1310Ter)
NM_003235.5(TG):c.3937T>C (p.Leu1313=)
NM_003235.5(TG):c.396T>C (p.Asp132=)
NM_003235.5(TG):c.3975G>C (p.Leu1325=)
NM_003235.5(TG):c.3981C>G (p.Ala1327=)
NM_003235.5(TG):c.3984C>A (p.Arg1328=)
NM_003235.5(TG):c.3984C>T (p.Arg1328=)
NM_003235.5(TG):c.399G>A (p.Val133=)
NM_003235.5(TG):c.4002+11G>C
NM_003235.5(TG):c.4002+12G>A
NM_003235.5(TG):c.4002+14C>T
NM_003235.5(TG):c.4002+18C>T
NM_003235.5(TG):c.4002+1G>A
NM_003235.5(TG):c.4002+8C>T
NM_003235.5(TG):c.4003-16G>A
NM_003235.5(TG):c.4003-18G>C
NM_003235.5(TG):c.400C>T (p.Gln134Ter)
NM_003235.5(TG):c.4020C>G (p.Thr1340=)
NM_003235.5(TG):c.4021C>T (p.Leu1341=)
NM_003235.5(TG):c.4038C>A (p.Val1346=)
NM_003235.5(TG):c.4038C>T (p.Val1346=)
NM_003235.5(TG):c.4053T>C (p.Ser1351=)
NM_003235.5(TG):c.4053T>G (p.Ser1351=)
NM_003235.5(TG):c.4057C>T (p.Gln1353Ter)
NM_003235.5(TG):c.4077G>A (p.Arg1359=)
NM_003235.5(TG):c.4092G>A (p.Val1364=)
NM_003235.5(TG):c.4095T>C (p.Asn1365=)
NM_003235.5(TG):c.4110A>G (p.Ser1370=)
NM_003235.5(TG):c.4131G>T (p.Val1377=)
NM_003235.5(TG):c.4146C>T (p.Asp1382=)
NM_003235.5(TG):c.4159+18A>G
NM_003235.5(TG):c.4159+19G>C
NM_003235.5(TG):c.4159+1G>A
NM_003235.5(TG):c.4159+1G>T
NM_003235.5(TG):c.4159+8T>C
NM_003235.5(TG):c.4160-13C>A
NM_003235.5(TG):c.4160-13C>T
NM_003235.5(TG):c.4160-14C>A
NM_003235.5(TG):c.4160-16A>T
NM_003235.5(TG):c.4160-19C>T
NM_003235.5(TG):c.4160-20C>T
NM_003235.5(TG):c.4160-9G>A
NM_003235.5(TG):c.416G>A (p.Trp139Ter) rs141306917
NM_003235.5(TG):c.4203T>C (p.Asp1401=)
NM_003235.5(TG):c.4210C>T (p.Gln1404Ter)
NM_003235.5(TG):c.4227G>A (p.Gln1409=)
NM_003235.5(TG):c.4230T>A (p.Leu1410=)
NM_003235.5(TG):c.4239C>T (p.Asp1413=)
NM_003235.5(TG):c.4245G>A (p.Lys1415=)
NM_003235.5(TG):c.4248G>A (p.Thr1416=)
NM_003235.5(TG):c.4251C>T (p.Phe1417=)
NM_003235.5(TG):c.4272C>T (p.Phe1424=)
NM_003235.5(TG):c.4296C>T (p.Thr1432=)
NM_003235.5(TG):c.429A>G (p.Ala143=)
NM_003235.5(TG):c.4302C>T (p.Pro1434=)
NM_003235.5(TG):c.4317del (p.Cys1440fs)
NM_003235.5(TG):c.4347A>G (p.Thr1449=)
NM_003235.5(TG):c.4377C>A (p.Cys1459Ter)
NM_003235.5(TG):c.4378+12C>T
NM_003235.5(TG):c.4378+14C>G
NM_003235.5(TG):c.4378+16C>A
NM_003235.5(TG):c.4378+18C>G
NM_003235.5(TG):c.4378+19T>C
NM_003235.5(TG):c.4378+7C>T
NM_003235.5(TG):c.4378+8C>G
NM_003235.5(TG):c.4378+9A>G
NM_003235.5(TG):c.4379-11T>A
NM_003235.5(TG):c.4379-12G>T
NM_003235.5(TG):c.4379-14C>T
NM_003235.5(TG):c.4379-19T>C
NM_003235.5(TG):c.4379-1G>A
NM_003235.5(TG):c.4379-5dup
NM_003235.5(TG):c.4383G>A (p.Lys1461=)
NM_003235.5(TG):c.4398C>T (p.Ser1466=)
NM_003235.5(TG):c.4410T>C (p.Asp1470=)
NM_003235.5(TG):c.4413G>A (p.Glu1471=)
NM_003235.5(TG):c.4419C>T (p.Cys1473=)
NM_003235.5(TG):c.4434T>C (p.Val1478=)
NM_003235.5(TG):c.4444C>T (p.Gln1482Ter)
NM_003235.5(TG):c.4455A>G (p.Ala1485=)
NM_003235.5(TG):c.4461C>T (p.Ser1487=)
NM_003235.5(TG):c.4463T>A (p.Leu1488Ter)
NM_003235.5(TG):c.4464G>A (p.Leu1488=)
NM_003235.5(TG):c.4474C>T (p.Pro1492Ser)
NM_003235.5(TG):c.447T>C (p.Tyr149=)
NM_003235.5(TG):c.4494G>A (p.Thr1498=)
NM_003235.5(TG):c.4519C>T (p.Gln1507Ter)
NM_003235.5(TG):c.4528+13G>C
NM_003235.5(TG):c.4528+17G>T
NM_003235.5(TG):c.4528+19T>C
NM_003235.5(TG):c.4528+1G>A
NM_003235.5(TG):c.4528+20T>A
NM_003235.5(TG):c.4528+2T>C
NM_003235.5(TG):c.4529-10T>C
NM_003235.5(TG):c.4529-11A>G
NM_003235.5(TG):c.4529-13C>T
NM_003235.5(TG):c.4529-18T>C
NM_003235.5(TG):c.4529-19G>A
NM_003235.5(TG):c.4529-19G>C
NM_003235.5(TG):c.4533C>T (p.Val1511=)
NM_003235.5(TG):c.4536T>A (p.Thr1512=)
NM_003235.5(TG):c.4539C>T (p.Asp1513=)
NM_003235.5(TG):c.4542T>C (p.Cys1514=)
NM_003235.5(TG):c.4554A>G (p.Glu1518=)
NM_003235.5(TG):c.4566A>G (p.Gln1522=)
NM_003235.5(TG):c.4582C>T (p.Gln1528Ter)
NM_003235.5(TG):c.4604A>G (p.Asp1535Gly)
NM_003235.5(TG):c.4606del (p.Arg1536fs)
NM_003235.5(TG):c.4635C>T (p.Asp1545=)
NM_003235.5(TG):c.4653G>A (p.Leu1551=)
NM_003235.5(TG):c.4656A>G (p.Pro1552=)
NM_003235.5(TG):c.4668A>G (p.Thr1556=) rs1587422261
NM_003235.5(TG):c.4677T>G (p.Pro1559=)
NM_003235.5(TG):c.4683G>A (p.Glu1561=)
NM_003235.5(TG):c.4697T>A (p.Leu1566Ter)
NM_003235.5(TG):c.4699+16G>A
NM_003235.5(TG):c.4700-16T>C
NM_003235.5(TG):c.4700-17A>G
NM_003235.5(TG):c.4700-2A>T
NM_003235.5(TG):c.4700-6T>C
NM_003235.5(TG):c.474G>A (p.Lys158=)
NM_003235.5(TG):c.4755T>C (p.Ala1585=)
NM_003235.5(TG):c.475C>A (p.Arg159=)
NM_003235.5(TG):c.4773C>G (p.Ser1591=)
NM_003235.5(TG):c.4773C>T (p.Ser1591=) rs1333727682
NM_003235.5(TG):c.4777G>T (p.Val1593Phe) rs1053887198
NM_003235.5(TG):c.478+11C>T
NM_003235.5(TG):c.478+14A>G
NM_003235.5(TG):c.478+15G>A rs141561325
NM_003235.5(TG):c.478+15G>C
NM_003235.5(TG):c.478+16C>T
NM_003235.5(TG):c.478+17G>A
NM_003235.5(TG):c.478+20T>C
NM_003235.5(TG):c.479-12G>A
NM_003235.5(TG):c.479-14G>A
NM_003235.5(TG):c.479-15C>T
NM_003235.5(TG):c.479-16T>C
NM_003235.5(TG):c.479-18T>A
NM_003235.5(TG):c.479-1G>A rs976187958
NM_003235.5(TG):c.479-6G>A
NM_003235.5(TG):c.4797C>G (p.Pro1599=)
NM_003235.5(TG):c.4800G>T (p.Val1600=)
NM_003235.5(TG):c.4816+16G>C
NM_003235.5(TG):c.4816+19A>G
NM_003235.5(TG):c.4816+1G>T
NM_003235.5(TG):c.4816+8G>A
NM_003235.5(TG):c.4817-12T>C
NM_003235.5(TG):c.4817-16C>T
NM_003235.5(TG):c.4817-18G>A
NM_003235.5(TG):c.4817-19C>T
NM_003235.5(TG):c.4817-2A>C
NM_003235.5(TG):c.4827G>A (p.Glu1609=)
NM_003235.5(TG):c.4830C>T (p.Asp1610=)
NM_003235.5(TG):c.4833G>A (p.Glu1611=)
NM_003235.5(TG):c.4851C>A (p.Thr1617=)
NM_003235.5(TG):c.4857C>T (p.Ser1619=)
NM_003235.5(TG):c.4860G>A (p.Thr1620=)
NM_003235.5(TG):c.4863G>A (p.Thr1621=)
NM_003235.5(TG):c.4908T>C (p.Asn1636=)
NM_003235.5(TG):c.4932+10G>A
NM_003235.5(TG):c.4932+11G>A
NM_003235.5(TG):c.4932+15C>T
NM_003235.5(TG):c.4932+18C>T
NM_003235.5(TG):c.4932+19G>A
NM_003235.5(TG):c.4932+19G>C
NM_003235.5(TG):c.4932+19G>T
NM_003235.5(TG):c.4932+7T>C
NM_003235.5(TG):c.4933-18G>A
NM_003235.5(TG):c.4936C>T (p.Arg1646Ter)
NM_003235.5(TG):c.4941T>C (p.Asp1647=)
NM_003235.5(TG):c.4944A>G (p.Ala1648=)
NM_003235.5(TG):c.4964C>T (p.Thr1655Ile)
NM_003235.5(TG):c.4965C>T (p.Thr1655=)
NM_003235.5(TG):c.4986_4987del (p.Cys1662_Gln1663delinsTer)
NM_003235.5(TG):c.5007T>C (p.His1669=)
NM_003235.5(TG):c.5030del (p.Tyr1677fs)
NM_003235.5(TG):c.5031T>C (p.Tyr1677=)
NM_003235.5(TG):c.5041+132T>G rs2250927
NM_003235.5(TG):c.5041+15C>A
NM_003235.5(TG):c.5041+15C>G
NM_003235.5(TG):c.5041+18G>A
NM_003235.5(TG):c.5041+1G>A
NM_003235.5(TG):c.5041+8G>C
NM_003235.5(TG):c.5041+9dup
NM_003235.5(TG):c.5042-12C>T
NM_003235.5(TG):c.5042-7C>T
NM_003235.5(TG):c.5052C>T (p.Ser1684=)
NM_003235.5(TG):c.5061A>G (p.Thr1687=)
NM_003235.5(TG):c.506GTC[1] (p.Arg170del) rs2132059579
NM_003235.5(TG):c.5070A>G (p.Lys1690=)
NM_003235.5(TG):c.5077G>A (p.Glu1693Lys)
NM_003235.5(TG):c.5083A>G (p.Thr1695Ala)
NM_003235.5(TG):c.5106T>A (p.Ser1702=)
NM_003235.5(TG):c.5109A>G (p.Gly1703=)
NM_003235.5(TG):c.510T>C (p.Arg170=)
NM_003235.5(TG):c.5121C>T (p.Pro1707=)
NM_003235.5(TG):c.5139A>C (p.Ser1713=)
NM_003235.5(TG):c.5151A>C (p.Leu1717=)
NM_003235.5(TG):c.5154C>T (p.Thr1718=)
NM_003235.5(TG):c.5157T>C (p.Asp1719=)
NM_003235.5(TG):c.5163C>T (p.His1721=)
NM_003235.5(TG):c.516C>G (p.Leu172=)
NM_003235.5(TG):c.5173del (p.Leu1725fs)
NM_003235.5(TG):c.5181A>T (p.Ala1727=)
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) rs199599591
NM_003235.5(TG):c.5184C>T (p.Cys1728=)
NM_003235.5(TG):c.5188C>A (p.Arg1730Ser)
NM_003235.5(TG):c.5196G>A (p.Leu1732=)
NM_003235.5(TG):c.519C>T (p.His173=)
NM_003235.5(TG):c.5202C>A (p.Cys1734Ter)
NM_003235.5(TG):c.5202C>T (p.Cys1734=)
NM_003235.5(TG):c.5211C>T (p.Phe1737=)
NM_003235.5(TG):c.5212G>A (p.Val1738Ile)
NM_003235.5(TG):c.5214C>T (p.Val1738=)
NM_003235.5(TG):c.5226T>C (p.Val1742=)
NM_003235.5(TG):c.5226T>G (p.Val1742=)
NM_003235.5(TG):c.522G>C (p.Gly174=)
NM_003235.5(TG):c.5233+120G>T rs2687808
NM_003235.5(TG):c.5233+19G>A
NM_003235.5(TG):c.5233+20C>G
NM_003235.5(TG):c.5233+21del
NM_003235.5(TG):c.5233+7T>C
NM_003235.5(TG):c.5233+8T>G
NM_003235.5(TG):c.5234-18A>T
NM_003235.5(TG):c.5234-30C>T rs2246624
NM_003235.5(TG):c.5234-9G>A
NM_003235.5(TG):c.5244C>T (p.Ile1748=)
NM_003235.5(TG):c.5247T>C (p.Cys1749=)
NM_003235.5(TG):c.5250G>A (p.Gly1750=)
NM_003235.5(TG):c.5251T>C (p.Leu1751=)
NM_003235.5(TG):c.5256G>T (p.Leu1752=)
NM_003235.5(TG):c.5268del (p.Ser1756fs)
NM_003235.5(TG):c.5286C>G (p.Val1762=)
NM_003235.5(TG):c.5307T>C (p.Ser1769=)
NM_003235.5(TG):c.5319T>C (p.Ala1773=)
NM_003235.5(TG):c.5349C>T (p.Asp1783=)
NM_003235.5(TG):c.5371T>C (p.Leu1791=)
NM_003235.5(TG):c.5373G>A (p.Leu1791=) rs1169084456
NM_003235.5(TG):c.5379T>C (p.Leu1793=)
NM_003235.5(TG):c.5388G>A (p.Gln1796=)
NM_003235.5(TG):c.5389G>T (p.Glu1797Ter)
NM_003235.5(TG):c.5394C>T (p.Phe1798=)
NM_003235.5(TG):c.5401+11G>A
NM_003235.5(TG):c.5401+7C>T
NM_003235.5(TG):c.5401+8T>A
NM_003235.5(TG):c.5401+9T>A
NM_003235.5(TG):c.5402-12C>G
NM_003235.5(TG):c.5402-14A>G
NM_003235.5(TG):c.5402-16A>T
NM_003235.5(TG):c.5402-17A>C
NM_003235.5(TG):c.5402-18A>G
NM_003235.5(TG):c.5402-20A>G
NM_003235.5(TG):c.5402-7T>G
NM_003235.5(TG):c.5433C>T (p.Thr1811=)
NM_003235.5(TG):c.5447A>G (p.Gln1816Arg)
NM_003235.5(TG):c.5467+10G>A
NM_003235.5(TG):c.5467+10G>T
NM_003235.5(TG):c.5467+12G>A
NM_003235.5(TG):c.5467+15G>A
NM_003235.5(TG):c.5467+7T>C
NM_003235.5(TG):c.5467+8C>T
NM_003235.5(TG):c.5467+9C>T
NM_003235.5(TG):c.5468-10_5468-9del
NM_003235.5(TG):c.5468-12T>C
NM_003235.5(TG):c.5468-14T>C
NM_003235.5(TG):c.5468-16T>C
NM_003235.5(TG):c.5468-20A>G
NM_003235.5(TG):c.5468-2A>G
NM_003235.5(TG):c.5468-4C>G
NM_003235.5(TG):c.5468-4C>T
NM_003235.5(TG):c.5468-5C>T
NM_003235.5(TG):c.5468-6T>C
NM_003235.5(TG):c.5468-7del
NM_003235.5(TG):c.5468-8C>T
NM_003235.5(TG):c.5468-9T>C
NM_003235.5(TG):c.5468-9dup
NM_003235.5(TG):c.5481G>T (p.Gly1827=)
NM_003235.5(TG):c.54G>A (p.Ser18=)
NM_003235.5(TG):c.5509_5518del (p.Lys1837fs) rs1554681801
NM_003235.5(TG):c.5514C>T (p.Asp1838=)
NM_003235.5(TG):c.5517A>G (p.Thr1839=)
NM_003235.5(TG):c.5548+10C>G
NM_003235.5(TG):c.5548+12C>A
NM_003235.5(TG):c.5548+12C>G
NM_003235.5(TG):c.5548+12C>T
NM_003235.5(TG):c.5548+16C>T
NM_003235.5(TG):c.5548+17C>A
NM_003235.5(TG):c.5548+7A>C
NM_003235.5(TG):c.5549-10T>G
NM_003235.5(TG):c.5549-15C>T
NM_003235.5(TG):c.5549-15del
NM_003235.5(TG):c.5590del (p.Val1864fs)
NM_003235.5(TG):c.5592C>G (p.Val1864=)
NM_003235.5(TG):c.5607T>C (p.Asn1869=)
NM_003235.5(TG):c.5608C>T (p.Gln1870Ter)
NM_003235.5(TG):c.5610A>G (p.Gln1870=)
NM_003235.5(TG):c.5616A>C (p.Leu1872=)
NM_003235.5(TG):c.5616A>T (p.Leu1872=)
NM_003235.5(TG):c.5646C>T (p.His1882=)
NM_003235.5(TG):c.5649G>A (p.Leu1883=)
NM_003235.5(TG):c.564G>A (p.Glu188=)
NM_003235.5(TG):c.5670C>T (p.Asn1890=)
NM_003235.5(TG):c.5672dup (p.Trp1892fs)
NM_003235.5(TG):c.5673A>G (p.Leu1891=)
NM_003235.5(TG):c.5679C>T (p.Cys1893=)
NM_003235.5(TG):c.5686+1G>A
NM_003235.5(TG):c.5686+1del
NM_003235.5(TG):c.5687-13C>G
NM_003235.5(TG):c.5687-16A>G
NM_003235.5(TG):c.5687-17T>C
NM_003235.5(TG):c.5687-18C>T
NM_003235.5(TG):c.5687-1G>A
NM_003235.5(TG):c.5687-6C>T
NM_003235.5(TG):c.5687-7C>T
NM_003235.5(TG):c.5687-8G>T
NM_003235.5(TG):c.5687-9T>C
NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr) rs121912649
NM_003235.5(TG):c.5694G>T (p.Val1898=)
NM_003235.5(TG):c.5695C>T (p.Gln1899Ter)
NM_003235.5(TG):c.5721A>G (p.Ala1907=)
NM_003235.5(TG):c.5745G>A (p.Leu1915=)
NM_003235.5(TG):c.5751C>T (p.Phe1917=)
NM_003235.5(TG):c.5757C>T (p.Cys1919=)
NM_003235.5(TG):c.5760C>T (p.Thr1920=)
NM_003235.5(TG):c.5771A>C (p.Glu1924Ala)
NM_003235.5(TG):c.5791A>G (p.Ile1931Val)
NM_003235.5(TG):c.5811G>A (p.Gln1937=)
NM_003235.5(TG):c.5826C>T (p.Ile1942=)
NM_003235.5(TG):c.5829G>A (p.Leu1943=)
NM_003235.5(TG):c.582C>T (p.Cys194=) rs765583914
NM_003235.5(TG):c.5847C>T (p.Ala1949=)
NM_003235.5(TG):c.5850G>C (p.Leu1950=)
NM_003235.5(TG):c.5863+13A>G
NM_003235.5(TG):c.5864-11C>T
NM_003235.5(TG):c.5864-15del
NM_003235.5(TG):c.5864-19T>C
NM_003235.5(TG):c.5864-1G>A
NM_003235.5(TG):c.5864-20T>C
NM_003235.5(TG):c.5864-6A>G
NM_003235.5(TG):c.5864-9T>C
NM_003235.5(TG):c.5865T>C (p.Val1955=)
NM_003235.5(TG):c.5883G>T (p.Val1961=)
NM_003235.5(TG):c.58A>T (p.Asn20Tyr)
NM_003235.5(TG):c.5901C>T (p.Arg1967=)
NM_003235.5(TG):c.5906C>T (p.Pro1969Leu)
NM_003235.5(TG):c.5907G>T (p.Pro1969=)
NM_003235.5(TG):c.5919G>A (p.Leu1973=)
NM_003235.5(TG):c.591C>T (p.Val197=)
NM_003235.5(TG):c.5925G>A (p.Gly1975=)
NM_003235.5(TG):c.5925G>C (p.Gly1975=)
NM_003235.5(TG):c.5946G>C (p.Val1982=)
NM_003235.5(TG):c.5970T>C (p.Ser1990=)
NM_003235.5(TG):c.5975+12G>A
NM_003235.5(TG):c.5975+12G>T
NM_003235.5(TG):c.5975+13T>C
NM_003235.5(TG):c.5975+1G>A
NM_003235.5(TG):c.5975+20C>A
NM_003235.5(TG):c.5975+8A>G
NM_003235.5(TG):c.5976-12T>G
NM_003235.5(TG):c.5976-16T>C
NM_003235.5(TG):c.5976-19C>G
NM_003235.5(TG):c.5976-20T>A
NM_003235.5(TG):c.5976-7A>G
NM_003235.5(TG):c.5976-9C>A
NM_003235.5(TG):c.5991A>G (p.Glu1997=)
NM_003235.5(TG):c.5992C>A (p.Arg1998=)
NM_003235.5(TG):c.5992C>T (p.Arg1998Ter)
NM_003235.5(TG):c.5994_5995inv (p.Arg1999Trp)
NM_003235.5(TG):c.5997G>C (p.Arg1999=)
NM_003235.5(TG):c.6000C>T (p.Cys2000=)
NM_003235.5(TG):c.6012A>G (p.Pro2004=)
NM_003235.5(TG):c.6015C>T (p.Cys2005=)
NM_003235.5(TG):c.6024C>T (p.Gly2008=)
NM_003235.5(TG):c.6039T>C (p.Asn2013=)
NM_003235.5(TG):c.6055+15A>G
NM_003235.5(TG):c.6055+17C>T
NM_003235.5(TG):c.6055+18T>A
NM_003235.5(TG):c.6055+18T>C
NM_003235.5(TG):c.6055+1G>A
NM_003235.5(TG):c.6055+20C>T
NM_003235.5(TG):c.6055+9G>A rs1470442398
NM_003235.5(TG):c.6056-10T>C
NM_003235.5(TG):c.6056-10_6056-9insTTC
NM_003235.5(TG):c.6056-17T>A
NM_003235.5(TG):c.6056-17T>G
NM_003235.5(TG):c.6056-19_6056-18insGT
NM_003235.5(TG):c.6056-23dup rs150963971
NM_003235.5(TG):c.6056-5C>A
NM_003235.5(TG):c.6056-8C>T
NM_003235.5(TG):c.6056-8dup
NM_003235.5(TG):c.6056-9C>T rs1183590750
NM_003235.5(TG):c.6057A>T (p.Gly2019=)
NM_003235.5(TG):c.6069A>G (p.Thr2023=)
NM_003235.5(TG):c.6075C>T (p.Leu2025=)
NM_003235.5(TG):c.6090G>A (p.Leu2030=)
NM_003235.5(TG):c.6109G>T (p.Glu2037Ter)
NM_003235.5(TG):c.6114_6115insGC (p.Asn2039fs)
NM_003235.5(TG):c.6117T>C (p.Asn2039=)
NM_003235.5(TG):c.6128G>A (p.Trp2043Ter)
NM_003235.5(TG):c.6131G>T (p.Arg2044Leu) rs573866267
NM_003235.5(TG):c.6138G>A (p.Leu2046=)
NM_003235.5(TG):c.6147C>A (p.Gly2049=)
NM_003235.5(TG):c.6153T>G (p.Pro2051=)
NM_003235.5(TG):c.6162A>G (p.Glu2054=)
NM_003235.5(TG):c.6183A>T (p.Gly2061=)
NM_003235.5(TG):c.6199+13C>T
NM_003235.5(TG):c.6199+16A>G
NM_003235.5(TG):c.6199+17T>C
NM_003235.5(TG):c.6199+20C>T
NM_003235.5(TG):c.6199+8C>G
NM_003235.5(TG):c.6199+9C>T
NM_003235.5(TG):c.619C>T (p.Leu207=)
NM_003235.5(TG):c.6200-10del
NM_003235.5(TG):c.6200-15C>A
NM_003235.5(TG):c.6200-15C>G
NM_003235.5(TG):c.6200-15C>T
NM_003235.5(TG):c.6200-16G>A
NM_003235.5(TG):c.6200-18C>G
NM_003235.5(TG):c.6200-19A>T
NM_003235.5(TG):c.6219C>T (p.Pro2073=)
NM_003235.5(TG):c.6228C>A (p.Cys2076Ter)
NM_003235.5(TG):c.6252C>A (p.Leu2084=)
NM_003235.5(TG):c.6262+10T>C
NM_003235.5(TG):c.6262+19T>C
NM_003235.5(TG):c.6262+20A>T
NM_003235.5(TG):c.6262+7T>C
NM_003235.5(TG):c.6263-17G>A
NM_003235.5(TG):c.6263-18C>A
NM_003235.5(TG):c.6263-5C>T
NM_003235.5(TG):c.6273C>T (p.Asp2091=)
NM_003235.5(TG):c.6276G>A (p.Ser2092=)
NM_003235.5(TG):c.6285C>G (p.Ser2095=)
NM_003235.5(TG):c.6294C>T (p.Leu2098=)
NM_003235.5(TG):c.6315A>T (p.Pro2105=)
NM_003235.5(TG):c.6322A>C (p.Arg2108=)
NM_003235.5(TG):c.6336T>A (p.Val2112=)
NM_003235.5(TG):c.6339C>T (p.Ala2113=)
NM_003235.5(TG):c.635A>G (p.Asn212Ser)
NM_003235.5(TG):c.6369C>T (p.Phe2123=)
NM_003235.5(TG):c.6370T>C (p.Ser2124Pro)
NM_003235.5(TG):c.6375T>C (p.Ala2125=)
NM_003235.5(TG):c.638+12_638+21del
NM_003235.5(TG):c.638+13G>A
NM_003235.5(TG):c.638+14G>A
NM_003235.5(TG):c.638+15G>C
NM_003235.5(TG):c.638+17T>C
NM_003235.5(TG):c.638+18G>C
NM_003235.5(TG):c.638+20G>A
NM_003235.5(TG):c.638+8G>A
NM_003235.5(TG):c.6384C>T (p.Asp2128=)
NM_003235.5(TG):c.6387C>G (p.Leu2129=)
NM_003235.5(TG):c.639-17A>C
NM_003235.5(TG):c.639-9C>T
NM_003235.5(TG):c.6397+16A>G
NM_003235.5(TG):c.6397+8del
NM_003235.5(TG):c.6397G>C (p.Glu2133Gln)
NM_003235.5(TG):c.6398-13del
NM_003235.5(TG):c.6398-15C>T
NM_003235.5(TG):c.6398-18T>C
NM_003235.5(TG):c.6398-20C>G
NM_003235.5(TG):c.6398-20C>T
NM_003235.5(TG):c.63C>A (p.Ile21=)
NM_003235.5(TG):c.6420T>C (p.Cys2140=)
NM_003235.5(TG):c.6423C>T (p.Leu2141=)
NM_003235.5(TG):c.6429C>T (p.Thr2143=)
NM_003235.5(TG):c.6435G>T (p.Leu2145=)
NM_003235.5(TG):c.6441C>G (p.Thr2147=)
NM_003235.5(TG):c.6444A>G (p.Gln2148=)
NM_003235.5(TG):c.6459A>G (p.Arg2153=)
NM_003235.5(TG):c.6465G>A (p.Met2155Ile)
NM_003235.5(TG):c.6483A>G (p.Gln2161=)
NM_003235.5(TG):c.6489C>T (p.Cys2163=)
NM_003235.5(TG):c.6513C>T (p.Asn2171=)
NM_003235.5(TG):c.6516C>T (p.Cys2172=)
NM_003235.5(TG):c.6517C>T (p.Arg2173Ter)
NM_003235.5(TG):c.6537G>A (p.Glu2179=)
NM_003235.5(TG):c.6549del (p.Tyr2184fs)
NM_003235.5(TG):c.6552C>T (p.Tyr2184=)
NM_003235.5(TG):c.6562+15A>G
NM_003235.5(TG):c.6562+17G>T
NM_003235.5(TG):c.6562+18C>T
NM_003235.5(TG):c.6562+8C>A
NM_003235.5(TG):c.6563-14C>T
NM_003235.5(TG):c.6563-6C>T
NM_003235.5(TG):c.6563-9del
NM_003235.5(TG):c.6567C>A (p.Ile2189=)
NM_003235.5(TG):c.6591T>C (p.Ser2197=)
NM_003235.5(TG):c.6597T>A (p.Pro2199=)
NM_003235.5(TG):c.6598del (p.Ser2200fs)
NM_003235.5(TG):c.6603G>A (p.Val2201=)
NM_003235.5(TG):c.6619G>A (p.Gly2207Ser)
NM_003235.5(TG):c.6621C>A (p.Gly2207=)
NM_003235.5(TG):c.6621C>T (p.Gly2207=)
NM_003235.5(TG):c.6622C>A (p.Arg2208=)
NM_003235.5(TG):c.6630G>T (p.Leu2210=)
NM_003235.5(TG):c.6634_6637dup (p.Ser2213Ter) rs775044481
NM_003235.5(TG):c.6639C>T (p.Ser2213=)
NM_003235.5(TG):c.663C>T (p.Phe221=)
NM_003235.5(TG):c.6645C>A (p.Ala2215=)
NM_003235.5(TG):c.6648C>A (p.Ile2216=)
NM_003235.5(TG):c.6651G>A (p.Gln2217=)
NM_003235.5(TG):c.665G>A (p.Ser222Asn) rs1814693797
NM_003235.5(TG):c.6663A>G (p.Ser2221=)
NM_003235.5(TG):c.666T>C (p.Ser222=)
NM_003235.5(TG):c.6696A>T (p.Pro2232=)
NM_003235.5(TG):c.67+10G>T
NM_003235.5(TG):c.67+13G>A
NM_003235.5(TG):c.67+17T>C
NM_003235.5(TG):c.67+7T>C
NM_003235.5(TG):c.6705C>T (p.Ala2235=)
NM_003235.5(TG):c.6708G>A (p.Pro2236=)
NM_003235.5(TG):c.6712C>T (p.Leu2238=)
NM_003235.5(TG):c.6730C>T (p.Gln2244Ter)
NM_003235.5(TG):c.6738A>G (p.Pro2246=)
NM_003235.5(TG):c.6766del (p.Asp2256fs)
NM_003235.5(TG):c.6782+17G>A
NM_003235.5(TG):c.6782+18C>T
NM_003235.5(TG):c.6782+1G>T
NM_003235.5(TG):c.6783-14G>A
NM_003235.5(TG):c.6783-16C>A
NM_003235.5(TG):c.6783-8A>G rs780817859
NM_003235.5(TG):c.6783-8A>T
NM_003235.5(TG):c.6786C>T (p.Ala2262=)
NM_003235.5(TG):c.678G>A (p.Arg226=)
NM_003235.5(TG):c.68-4C>A
NM_003235.5(TG):c.68-6T>C
NM_003235.5(TG):c.68-7T>C
NM_003235.5(TG):c.6813A>G (p.Thr2271=)
NM_003235.5(TG):c.6846G>A (p.Leu2282=)
NM_003235.5(TG):c.684C>T (p.Phe228=)
NM_003235.5(TG):c.6854del (p.Asn2285fs)
NM_003235.5(TG):c.6858G>A (p.Val2286=)
NM_003235.5(TG):c.6873T>C (p.Asn2291=)
NM_003235.5(TG):c.6876+14C>T
NM_003235.5(TG):c.6876+19G>T
NM_003235.5(TG):c.6876+20C>A
NM_003235.5(TG):c.6876+8C>A
NM_003235.5(TG):c.6876+8C>G
NM_003235.5(TG):c.6876+8C>T
NM_003235.5(TG):c.6877-17T>A
NM_003235.5(TG):c.6882T>A (p.Pro2294=)
NM_003235.5(TG):c.6915C>G (p.Thr2305=)
NM_003235.5(TG):c.6927G>A (p.Glu2309=)
NM_003235.5(TG):c.6933T>C (p.Ser2311=)
NM_003235.5(TG):c.6951C>A (p.Ile2317=)
NM_003235.5(TG):c.6951C>T (p.Ile2317=)
NM_003235.5(TG):c.6954C>T (p.Asp2318=)
NM_003235.5(TG):c.6957C>A (p.Gly2319=)
NM_003235.5(TG):c.6981C>T (p.Asn2327=)
NM_003235.5(TG):c.6987C>T (p.Ile2329=)
NM_003235.5(TG):c.6993C>A (p.Val2331=)
NM_003235.5(TG):c.6993C>T (p.Val2331=)
NM_003235.5(TG):c.6996T>A (p.Thr2332=)
NM_003235.5(TG):c.6996T>C (p.Thr2332=)
NM_003235.5(TG):c.6999C>T (p.Ala2333=)
NM_003235.5(TG):c.6C>T (p.Ala2=)
NM_003235.5(TG):c.7006C>A (p.Arg2336=)
NM_003235.5(TG):c.7006C>T (p.Arg2336Ter)
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650
NM_003235.5(TG):c.7014T>C (p.Gly2338=)
NM_003235.5(TG):c.7023C>T (p.Gly2341=)
NM_003235.5(TG):c.7026C>T (p.Phe2342=)
NM_003235.5(TG):c.7036+11G>C
NM_003235.5(TG):c.7036+18G>T
NM_003235.5(TG):c.7036+1G>T
NM_003235.5(TG):c.7036+20G>A
NM_003235.5(TG):c.7036+9C>T
NM_003235.5(TG):c.7037-13C>T
NM_003235.5(TG):c.7041C>G (p.Ser2347=)
NM_003235.5(TG):c.7041C>T (p.Ser2347=)
NM_003235.5(TG):c.7050G>A (p.Val2350=)
NM_003235.5(TG):c.7053T>C (p.Ser2351=)
NM_003235.5(TG):c.7065G>A (p.Gly2355=)
NM_003235.5(TG):c.7082_7083insAAAA (p.Ala2362fs)
NM_003235.5(TG):c.7083G>A (p.Ala2361=)
NM_003235.5(TG):c.7092C>T (p.Thr2364=)
NM_003235.5(TG):c.7111C>T (p.Arg2371Ter)
NM_003235.5(TG):c.7116A>T (p.Gly2372=)
NM_003235.5(TG):c.7122C>T (p.Gly2374=)
NM_003235.5(TG):c.7128C>T (p.Asp2376=)
NM_003235.5(TG):c.7137C>T (p.Arg2379=)
NM_003235.5(TG):c.7143C>A (p.Ser2381=)
NM_003235.5(TG):c.7143C>T (p.Ser2381=)
NM_003235.5(TG):c.7157G>A (p.Arg2386His)
NM_003235.5(TG):c.7161C>A (p.Gly2387=)
NM_003235.5(TG):c.7161C>T (p.Gly2387=)
NM_003235.5(TG):c.7164G>A (p.Gly2388=)
NM_003235.5(TG):c.7165G>C (p.Ala2389Pro) rs765477121
NM_003235.5(TG):c.7173G>A (p.Val2391=)
NM_003235.5(TG):c.717C>T (p.Asp239=)
NM_003235.5(TG):c.7194G>A (p.Thr2398=)
NM_003235.5(TG):c.720C>T (p.Ser240=)
NM_003235.5(TG):c.7215A>G (p.Gln2405=)
NM_003235.5(TG):c.7222C>T (p.Arg2408Trp)
NM_003235.5(TG):c.7239+10G>A
NM_003235.5(TG):c.7239+18T>C
NM_003235.5(TG):c.727C>T (p.Arg243Trp)
NM_003235.5(TG):c.73C>T (p.Gln25Ter)
NM_003235.5(TG):c.745+11C>A
NM_003235.5(TG):c.746-20G>C
NM_003235.5(TG):c.746-5C>A
NM_003235.5(TG):c.746-6G>T
NM_003235.5(TG):c.747T>C (p.Gly249=)
NM_003235.5(TG):c.7573C>T (p.Gln2525Ter)
NM_003235.5(TG):c.7594C>A (p.Arg2532=)
NM_003235.5(TG):c.7595G>A (p.Arg2532Gln)
NM_003235.5(TG):c.760C>T (p.Leu254=)
NM_003235.5(TG):c.7626A>G (p.Ala2542=)
NM_003235.5(TG):c.7629G>A (p.Leu2543=)
NM_003235.5(TG):c.762G>A (p.Leu254=)
NM_003235.5(TG):c.7653C>T (p.Asp2551=)
NM_003235.5(TG):c.7659T>C (p.Asp2553=)
NM_003235.5(TG):c.7665C>A (p.Arg2555=)
NM_003235.5(TG):c.7668C>A (p.Val2556=)
NM_003235.5(TG):c.7668C>T (p.Val2556=)
NM_003235.5(TG):c.7672del (p.Ala2558fs)
NM_003235.5(TG):c.7683A>G (p.Thr2561=)
NM_003235.5(TG):c.7704C>T (p.His2568=)
NM_003235.5(TG):c.7707C>A (p.Ser2569=)
NM_003235.5(TG):c.7710G>A (p.Thr2570=)
NM_003235.5(TG):c.7710G>T (p.Thr2570=)
NM_003235.5(TG):c.7719T>C (p.Tyr2573=)
NM_003235.5(TG):c.7724C>T (p.Ser2575Phe)
NM_003235.5(TG):c.7728C>T (p.Phe2576=)
NM_003235.5(TG):c.7734G>A (p.Arg2578=)
NM_003235.5(TG):c.7754+169= rs2979043
NM_003235.5(TG):c.7754+186= rs2958682
NM_003235.5(TG):c.7755-11C>T
NM_003235.5(TG):c.7755-15T>G
NM_003235.5(TG):c.7755-18A>G
NM_003235.5(TG):c.7755-4C>T
NM_003235.5(TG):c.7770C>T (p.Ile2590=)
NM_003235.5(TG):c.7782C>A (p.Ile2594=)
NM_003235.5(TG):c.7803A>G (p.Ala2601=)
NM_003235.5(TG):c.7813C>T (p.Arg2605Ter)
NM_003235.5(TG):c.7821C>T (p.Asn2607=)
NM_003235.5(TG):c.7822G>A (p.Val2608Ile)
NM_003235.5(TG):c.7824C>A (p.Val2608=) rs886062710
NM_003235.5(TG):c.7833C>G (p.Tyr2611Ter)
NM_003235.5(TG):c.7836T>C (p.His2612=) rs1588131919
NM_003235.5(TG):c.7847A>G (p.Asn2616Ser) rs10091530
NM_003235.5(TG):c.7847A>T (p.Asn2616Ile) rs10091530
NM_003235.5(TG):c.7851C>T (p.Tyr2617=)
NM_003235.5(TG):c.7860C>G (p.Gly2620=)
NM_003235.5(TG):c.7862+10T>C
NM_003235.5(TG):c.7862+11G>T
NM_003235.5(TG):c.7862+16G>A
NM_003235.5(TG):c.7862+19G>C
NM_003235.5(TG):c.7862+7C>A rs373486209
NM_003235.5(TG):c.7862+7C>T
NM_003235.5(TG):c.7862+8G>A
NM_003235.5(TG):c.7862+8G>T
NM_003235.5(TG):c.7863-12C>A
NM_003235.5(TG):c.7863-12C>T
NM_003235.5(TG):c.7863-13T>A
NM_003235.5(TG):c.7863-14C>A
NM_003235.5(TG):c.7863-1G>A
NM_003235.5(TG):c.7863-20C>T
NM_003235.5(TG):c.7878G>A (p.Ala2626=)
NM_003235.5(TG):c.7893C>T (p.Ala2631=)
NM_003235.5(TG):c.78G>C (p.Val26=)
NM_003235.5(TG):c.7902T>C (p.Leu2634=)
NM_003235.5(TG):c.7905C>A (p.Pro2635=)
NM_003235.5(TG):c.7905C>T (p.Pro2635=)
NM_003235.5(TG):c.7914A>G (p.Pro2638=)
NM_003235.5(TG):c.7919_7920del (p.Ala2639_Tyr2640insTer)
NM_003235.5(TG):c.7920C>A (p.Tyr2640Ter)
NM_003235.5(TG):c.7923G>A (p.Glu2641=)
NM_003235.5(TG):c.7926G>T (p.Gly2642=)
NM_003235.5(TG):c.7935T>G (p.Ser2645=)
NM_003235.5(TG):c.7938G>A (p.Leu2646=)
NM_003235.5(TG):c.7939G>C (p.Glu2647Gln)
NM_003235.5(TG):c.7947G>A (p.Lys2649=)
NM_003235.5(TG):c.7951C>T (p.Leu2651=)
NM_003235.5(TG):c.7956G>A (p.Ser2652=)
NM_003235.5(TG):c.7965C>T (p.Ile2655=)
NM_003235.5(TG):c.7971G>A (p.Gln2657=)
NM_003235.5(TG):c.7974C>T (p.Tyr2658=)
NM_003235.5(TG):c.7990A>C (p.Arg2664=)
NM_003235.5(TG):c.7995A>G (p.Ser2665=)
NM_003235.5(TG):c.7995A>T (p.Ser2665=)
NM_003235.5(TG):c.7997+16T>A
NM_003235.5(TG):c.7997+16T>C
NM_003235.5(TG):c.7997+18G>T
NM_003235.5(TG):c.7998-16C>A
NM_003235.5(TG):c.7998-17_7998-14del
NM_003235.5(TG):c.8000del (p.Asn2667fs)
NM_003235.5(TG):c.8010C>A (p.Tyr2670Ter)
NM_003235.5(TG):c.8010C>T (p.Tyr2670=)
NM_003235.5(TG):c.8016T>C (p.Tyr2672=)
NM_003235.5(TG):c.8037C>T (p.Pro2679=)
NM_003235.5(TG):c.8043T>C (p.Phe2681=) rs1588156501
NM_003235.5(TG):c.8046A>C (p.Ala2682=)
NM_003235.5(TG):c.8049C>T (p.Thr2683=)
NM_003235.5(TG):c.8057del (p.Pro2686fs)
NM_003235.5(TG):c.8058T>C (p.Pro2686=)
NM_003235.5(TG):c.8061C>T (p.Asp2687=)
NM_003235.5(TG):c.8070C>G (p.Pro2690=)
NM_003235.5(TG):c.8073T>C (p.Arg2691=)
NM_003235.5(TG):c.8088C>T (p.Asn2696=)
NM_003235.5(TG):c.8091C>T (p.Tyr2697=)
NM_003235.5(TG):c.8095G>T (p.Glu2699Ter)
NM_003235.5(TG):c.8107C>T (p.Leu2703=)
NM_003235.5(TG):c.810C>G (p.Thr270=)
NM_003235.5(TG):c.8112C>T (p.Leu2704=)
NM_003235.5(TG):c.8119C>T (p.Arg2707Ter)
NM_003235.5(TG):c.8137G>A (p.Ala2713Thr)
NM_003235.5(TG):c.8139C>T (p.Ala2713=)
NM_003235.5(TG):c.8144G>C (p.Cys2715Ser)
NM_003235.5(TG):c.8169G>A (p.Ser2723=)
NM_003235.5(TG):c.8184T>G (p.Ser2728=)
NM_003235.5(TG):c.8189-11C>T
NM_003235.5(TG):c.8189-12C>T
NM_003235.5(TG):c.8189-14C>A rs374177941
NM_003235.5(TG):c.8189-14C>T rs374177941
NM_003235.5(TG):c.8189-18C>G
NM_003235.5(TG):c.8189-6T>A
NM_003235.5(TG):c.8205G>A (p.Gly2735=)
NM_003235.5(TG):c.8235G>A (p.Leu2745=)
NM_003235.5(TG):c.8237C>T (p.Thr2746Met)
NM_003235.5(TG):c.8244A>C (p.Gly2748=)
NM_003235.5(TG):c.8274C>T (p.Leu2758=)
NM_003235.5(TG):c.8283A>G (p.Pro2761=)
NM_003235.5(TG):c.828G>C (p.Leu276=)
NM_003235.5(TG):c.832C>A (p.Arg278=)
NM_003235.5(TG):c.840G>T (p.Leu280=)
NM_003235.5(TG):c.855C>T (p.Leu285=)
NM_003235.5(TG):c.864A>G (p.Gln288=)
NM_003235.5(TG):c.866C>A (p.Ser289Ter)
NM_003235.5(TG):c.870C>G (p.Val290=)
NM_003235.5(TG):c.876T>C (p.Ser292=)
NM_003235.5(TG):c.876T>G (p.Ser292=)
NM_003235.5(TG):c.885C>T (p.Phe295=)
NM_003235.5(TG):c.889+19A>G
NM_003235.5(TG):c.889+2T>A
NM_003235.5(TG):c.889+2T>G
NM_003235.5(TG):c.890-11A>C
NM_003235.5(TG):c.890-16del
NM_003235.5(TG):c.890-18T>C
NM_003235.5(TG):c.890-19C>T
NM_003235.5(TG):c.890-2A>G
NM_003235.5(TG):c.890-4C>T
NM_003235.5(TG):c.890-6C>T
NM_003235.5(TG):c.890-8del
NM_003235.5(TG):c.90C>T (p.Pro30=)
NM_003235.5(TG):c.915G>A (p.Arg305=)
NM_003235.5(TG):c.939C>T (p.His313=)
NM_003235.5(TG):c.942C>T (p.Pro314=)
NM_003235.5(TG):c.957C>T (p.Cys319=)
NM_003235.5(TG):c.961C>T (p.Arg321Ter)
NM_003235.5(TG):c.972C>T (p.Asp324=)
NM_003235.5(TG):c.996G>A (p.Thr332=)
NM_003235.5(TG):c.9G>C (p.Leu3=)

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