ClinVar Miner

List of variants in gene DSP reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 679
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HGVS dbSNP
NM_001008844.2(DSP):c.2703G>T (p.Trp901Cys) rs1057519251
NM_001008844.2(DSP):c.5326G>C (p.Gly1776Arg) rs376923069
NM_004415.2(DSP):c.(?_8488)_(*111_?)dup
NM_004415.2(DSP):c.1012C>T (p.Leu338Phe) rs774852168
NM_004415.2(DSP):c.1034A>G (p.Asp345Gly) rs753855393
NM_004415.2(DSP):c.1040T>C (p.Ile347Thr) rs757208743
NM_004415.2(DSP):c.1044+3A>C rs765089914
NM_004415.2(DSP):c.1044+3A>G rs765089914
NM_004415.2(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.2(DSP):c.106G>A (p.Gly36Ser) rs1395509692
NM_004415.2(DSP):c.107G>C (p.Gly36Ala) rs778506459
NM_004415.2(DSP):c.1090A>G (p.Ile364Val) rs886038909
NM_004415.2(DSP):c.1102A>G (p.Ile368Val) rs794728112
NM_004415.2(DSP):c.1136T>C (p.Phe379Ser) rs1064795084
NM_004415.2(DSP):c.1140+6T>C rs534740669
NM_004415.2(DSP):c.1264G>A (p.Glu422Lys) rs397516914
NM_004415.2(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.2(DSP):c.1323G>C (p.Lys441Asn) rs1037212969
NM_004415.2(DSP):c.137G>A (p.Gly46Asp) rs140403872
NM_004415.2(DSP):c.1426G>A (p.Val476Met) rs367987327
NM_004415.2(DSP):c.145A>G (p.Thr49Ala) rs142059019
NM_004415.2(DSP):c.1468C>T (p.Arg490Cys) rs781084693
NM_004415.2(DSP):c.1483G>A (p.Val495Met) rs372014020
NM_004415.2(DSP):c.1483_1485delGTGinsTTT (p.Val495Phe) rs1064795582
NM_004415.2(DSP):c.1562A>C (p.Asp521Ala) rs748790273
NM_004415.2(DSP):c.1630A>C (p.Met544Leu) rs201960323
NM_004415.2(DSP):c.1676_1678delAGA (p.Lys559del) rs1064795615
NM_004415.2(DSP):c.1769T>C (p.Phe590Ser) rs1554107083
NM_004415.2(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.2(DSP):c.197A>T (p.Gln66Leu) rs794728152
NM_004415.2(DSP):c.2071C>T (p.Leu691Phe) rs1363445022
NM_004415.2(DSP):c.2182G>C (p.Asp728His) rs794728116
NM_004415.2(DSP):c.2287T>C (p.Tyr763His) rs1064794463
NM_004415.2(DSP):c.2288A>G (p.Tyr763Cys) rs113967308
NM_004415.2(DSP):c.2297G>C (p.Ser766Thr) rs794728117
NM_004415.2(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.2(DSP):c.242G>A (p.Cys81Tyr) rs140965835
NM_004415.2(DSP):c.2468C>T (p.Ser823Leu) rs141834182
NM_004415.2(DSP):c.2507A>G (p.Gln836Arg) rs1554107616
NM_004415.2(DSP):c.2546A>G (p.Tyr849Cys) rs778636665
NM_004415.2(DSP):c.2548G>A (p.Asp850Asn) rs1554107626
NM_004415.2(DSP):c.2552T>A (p.Leu851Gln) rs111368396
NM_004415.2(DSP):c.2560G>A (p.Gly854Ser) rs1554107628
NM_004415.2(DSP):c.2622C>G (p.Ile874Met) rs751067479
NM_004415.2(DSP):c.2675G>A (p.Arg892His)
NM_004415.2(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.2(DSP):c.269A>G (p.Gln90Arg) rs188516326
NM_004415.2(DSP):c.2708A>G (p.Tyr903Cys) rs777613109
NM_004415.2(DSP):c.2719C>T (p.Arg907Cys) rs749051278
NM_004415.2(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.2(DSP):c.273+3A>G rs794728107
NM_004415.2(DSP):c.273+5G>A rs200473206
NM_004415.2(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.2(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.2(DSP):c.2774G>A (p.Arg925Gln) rs139799237
NM_004415.2(DSP):c.2822G>A (p.Arg941Gln) rs759869347
NM_004415.2(DSP):c.2858T>C (p.Leu953Pro) rs745641212
NM_004415.2(DSP):c.2933T>A (p.Ile978Lys) rs1060500615
NM_004415.2(DSP):c.2950A>G (p.Met984Val) rs868110541
NM_004415.2(DSP):c.2985G>A (p.Glu995=) rs768858918
NM_004415.2(DSP):c.3146C>T (p.Ser1049Leu) rs751361395
NM_004415.2(DSP):c.3200C>T (p.Ala1067Val) rs1317030435
NM_004415.2(DSP):c.3277G>A (p.Ala1093Thr) rs1185986064
NM_004415.2(DSP):c.3297G>C (p.Lys1099Asn) rs370550974
NM_004415.2(DSP):c.3303C>T (p.Tyr1101=) rs372440854
NM_004415.2(DSP):c.3338G>A (p.Arg1113Gln) rs768455823
NM_004415.2(DSP):c.3492C>G (p.Ile1164Met)
NM_004415.2(DSP):c.3551G>A (p.Arg1184Gln) rs147909031
NM_004415.2(DSP):c.3562T>C (p.Tyr1188His) rs141508330
NM_004415.2(DSP):c.3600T>G (p.Asn1200Lys) rs202049575
NM_004415.2(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004415.2(DSP):c.3650C>T (p.Thr1217Met) rs535202724
NM_004415.2(DSP):c.3661A>G (p.Ile1221Val) rs794728120
NM_004415.2(DSP):c.3701A>G (p.Asn1234Ser) rs185367490
NM_004415.2(DSP):c.3706A>G (p.Arg1236Gly) rs377098318
NM_004415.2(DSP):c.3763A>G (p.Arg1255Gly) rs1477870659
NM_004415.2(DSP):c.3800G>A (p.Arg1267Gln) rs759698959
NM_004415.2(DSP):c.3836C>T (p.Ala1279Val) rs753270443
NM_004415.2(DSP):c.384G>A (p.Met128Ile) rs930440897
NM_004415.2(DSP):c.3862A>C (p.Lys1288Gln) rs138907450
NM_004415.2(DSP):c.386G>A (p.Arg129Gln) rs749155619
NM_004415.2(DSP):c.3877A>G (p.Ile1293Val) rs376555665
NM_004415.2(DSP):c.3922C>T (p.Arg1308Trp) rs144641271
NM_004415.2(DSP):c.394G>A (p.Gly132Ser) rs1064796573
NM_004415.2(DSP):c.3956C>G (p.Thr1319Ser) rs138599871
NM_004415.2(DSP):c.3971A>T (p.Asn1324Ile) rs749820299
NM_004415.2(DSP):c.3973A>C (p.Lys1325Gln) rs41302883
NM_004415.2(DSP):c.4072_4074delGAG (p.Glu1358del) rs777457799
NM_004415.2(DSP):c.4105G>A (p.Glu1369Lys) rs141805096
NM_004415.2(DSP):c.4117A>G (p.Thr1373Ala)
NM_004415.2(DSP):c.424C>T (p.Leu142Phe) rs373769397
NM_004415.2(DSP):c.4274G>A (p.Arg1425Lys) rs577560157
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.2(DSP):c.440A>T (p.Glu147Val) rs794728108
NM_004415.2(DSP):c.4466T>G (p.Leu1489Arg) rs746782582
NM_004415.2(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.2(DSP):c.4492A>G (p.Lys1498Glu) rs794728122
NM_004415.2(DSP):c.4526G>A (p.Arg1509Lys) rs577061462
NM_004415.2(DSP):c.4558A>T (p.Ser1520Cys) rs780953141
NM_004415.2(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.2(DSP):c.4623C>G (p.Asp1541Glu) rs1554108349
NM_004415.2(DSP):c.4648A>G (p.Thr1550Ala) rs375917565
NM_004415.2(DSP):c.4657G>A (p.Asp1553Asn) rs730880084
NM_004415.2(DSP):c.4696C>G (p.Leu1566Val) rs201785897
NM_004415.2(DSP):c.4741A>G (p.Lys1581Glu) rs186842903
NM_004415.2(DSP):c.4775A>G (p.Lys1592Arg) rs200421954
NM_004415.2(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.2(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.2(DSP):c.4901G>A (p.Arg1634Gln) rs144106775
NM_004415.2(DSP):c.4943A>G (p.Gln1648Arg) rs202232360
NM_004415.2(DSP):c.4961T>C (p.Leu1654Pro) rs749730642
NM_004415.2(DSP):c.4997G>A (p.Arg1666Gln) rs768577891
NM_004415.2(DSP):c.5035C>T (p.His1679Tyr) rs762561997
NM_004415.2(DSP):c.5062G>A (p.Ala1688Thr) rs757753880
NM_004415.2(DSP):c.5101A>G (p.Ile1701Val) rs794728154
NM_004415.2(DSP):c.5107A>T (p.Ile1703Phe) rs868035157
NM_004415.2(DSP):c.5167_5169delGAA (p.Glu1723del) rs730880091
NM_004415.2(DSP):c.5173C>T (p.Arg1725Trp) rs200336897
NM_004415.2(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.2(DSP):c.521G>T (p.Cys174Phe) rs377507763
NM_004415.2(DSP):c.5283C>T (p.Asn1761=) rs763355815
NM_004415.2(DSP):c.5324G>T (p.Arg1775Ile) rs34738426
NM_004415.2(DSP):c.5353G>A (p.Glu1785Lys) rs528041468
NM_004415.2(DSP):c.5414G>A (p.Cys1805Tyr) rs768161038
NM_004415.2(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.2(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.2(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.2(DSP):c.5522C>T (p.Ser1841Leu) rs397516947
NM_004415.2(DSP):c.5523A>C (p.Ser1841=) rs730882116
NM_004415.2(DSP):c.5554C>T (p.Arg1852Cys) rs550818559
NM_004415.2(DSP):c.5582A>C (p.Gln1861Pro) rs794728125
NM_004415.2(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789
NM_004415.2(DSP):c.5618G>T (p.Arg1873Leu) rs776088292
NM_004415.2(DSP):c.5707C>A (p.Gln1903Lys) rs794728103
NM_004415.2(DSP):c.5779C>G (p.Gln1927Glu) rs794728104
NM_004415.2(DSP):c.5789C>G (p.Thr1930Arg) rs794728126
NM_004415.2(DSP):c.5804A>G (p.Tyr1935Cys) rs777048976
NM_004415.2(DSP):c.5821A>G (p.Lys1941Glu) rs794728127
NM_004415.2(DSP):c.5827A>G (p.Arg1943Gly) rs140663822
NM_004415.2(DSP):c.5846C>T (p.Ser1949Phe) rs1057524621
NM_004415.2(DSP):c.5881G>A (p.Val1961Ile) rs368869076
NM_004415.2(DSP):c.5912T>C (p.Leu1971Pro) rs397516950
NM_004415.2(DSP):c.5942A>G (p.Tyr1981Cys) rs1085307622
NM_004415.2(DSP):c.5984T>C (p.Leu1995Ser) rs794728128
NM_004415.2(DSP):c.6038G>A (p.Arg2013Gln) rs557263443
NM_004415.2(DSP):c.6047G>T (p.Gly2016Val) rs771165835
NM_004415.2(DSP):c.6055G>T (p.Ala2019Ser) rs771974957
NM_004415.2(DSP):c.6062C>G (p.Ala2021Gly) rs760673242
NM_004415.2(DSP):c.616G>A (p.Ala206Thr) rs794728109
NM_004415.2(DSP):c.6179A>G (p.Asp2060Gly) rs794728129
NM_004415.2(DSP):c.6188G>A (p.Arg2063Gln) rs142927608
NM_004415.2(DSP):c.6229C>G (p.Leu2077Val) rs764619784
NM_004415.2(DSP):c.6233T>C (p.Ile2078Thr) rs377035113
NM_004415.2(DSP):c.6235G>C (p.Asp2079His) rs992731463
NM_004415.2(DSP):c.6248G>A (p.Arg2083His) rs574637009
NM_004415.2(DSP):c.6259T>C (p.Tyr2087His) rs780332266
NM_004415.2(DSP):c.6307A>G (p.Lys2103Glu) rs149513743
NM_004415.2(DSP):c.6397G>A (p.Gly2133Ser) rs372393122
NM_004415.2(DSP):c.643G>A (p.Glu215Lys) rs148095061
NM_004415.2(DSP):c.6452G>A (p.Arg2151Gln) rs367759510
NM_004415.2(DSP):c.6479G>A (p.Arg2160Gln) rs146642551
NM_004415.2(DSP):c.6497G>A (p.Arg2166Gln) rs771692503
NM_004415.2(DSP):c.6527T>G (p.Val2176Gly) rs1257672827
NM_004415.2(DSP):c.652A>G (p.Ile218Val) rs987363401
NM_004415.2(DSP):c.6655G>A (p.Val2219Ile) rs397516953
NM_004415.2(DSP):c.688G>A (p.Asp230Asn) rs147315869
NM_004415.2(DSP):c.6902T>C (p.Ile2301Thr) rs772381363
NM_004415.2(DSP):c.692A>G (p.Tyr231Cys) rs770210088
NM_004415.2(DSP):c.7125G>A (p.Gly2375=) rs141709096
NM_004415.2(DSP):c.727-10T>G rs375327581
NM_004415.2(DSP):c.7310A>G (p.Glu2437Gly) rs794728132
NM_004415.2(DSP):c.7465G>A (p.Asp2489Asn) rs760552749
NM_004415.2(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.2(DSP):c.7575C>T (p.Gly2525=) rs780156504
NM_004415.2(DSP):c.7622G>A (p.Arg2541Lys) rs142078450
NM_004415.2(DSP):c.7735G>A (p.Asp2579Asn) rs750744914
NM_004415.2(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517
NM_004415.2(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.2(DSP):c.7883T>C (p.Leu2628Pro) rs147484870
NM_004415.2(DSP):c.7885G>A (p.Glu2629Lys) rs756976948
NM_004415.2(DSP):c.7915C>T (p.Arg2639Trp) rs771553674
NM_004415.2(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.2(DSP):c.794G>A (p.Arg265Lys) rs1064796438
NM_004415.2(DSP):c.8019C>T (p.Asp2673=) rs144275591
NM_004415.2(DSP):c.8117A>T (p.Lys2706Met) rs537588390
NM_004415.2(DSP):c.8117_8119delAGA (p.Lys2706del) rs397516962
NM_004415.2(DSP):c.8191T>C (p.Tyr2731His) rs201397978
NM_004415.2(DSP):c.8210T>C (p.Val2737Ala) rs794728155
NM_004415.2(DSP):c.8255G>A (p.Arg2752Gln) rs769706539
NM_004415.2(DSP):c.8330C>A (p.Pro2777His) rs376273136
NM_004415.2(DSP):c.8357A>T (p.Lys2786Met) rs794728134
NM_004415.2(DSP):c.841A>G (p.Arg281Gly) rs377715523
NM_004415.2(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.2(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.2(DSP):c.8481_8492delCGGCTCCCGCTC (p.Ser2843_Arg2846del) rs397516968
NM_004415.2(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.2(DSP):c.8500C>T (p.Arg2834Cys) rs753033333
NM_004415.2(DSP):c.852G>A (p.Met284Ile) rs794728110
NM_004415.2(DSP):c.8531G>T (p.Gly2844Val) rs374137476
NM_004415.2(DSP):c.8536C>G (p.Arg2846Gly) rs397516972
NM_004415.2(DSP):c.866G>T (p.Cys289Phe) rs794728153
NM_004415.2(DSP):c.889G>A (p.Asp297Asn) rs201930322
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.2(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.2(DSP):c.916G>A (p.Ala306Thr) rs368193211
NM_004415.2(DSP):c.935_937delTCT (p.Phe312del) rs794728138
NM_004415.2(DSP):c.943C>T (p.Arg315Cys) rs200476515
NM_004415.2(DSP):c.961G>C (p.Val321Leu) rs143994626
NM_004415.2(DSP):c.967G>C (p.Glu323Gln) rs1057522287
NM_004415.2(DSP):c.968A>G (p.Glu323Gly) rs1064795408
NM_004415.2(DSP):c.997A>G (p.Ser333Gly) rs773685575
NM_004415.3(DSP):c.*112A>G rs141059005
NM_004415.3(DSP):c.*137T>C rs756543548
NM_004415.3(DSP):c.*289C>T rs886061749
NM_004415.3(DSP):c.*300C>A rs886061750
NM_004415.3(DSP):c.*305C>A rs886061751
NM_004415.3(DSP):c.*358A>T rs886061752
NM_004415.3(DSP):c.*384C>A rs886061753
NM_004415.3(DSP):c.*386G>T rs886061754
NM_004415.3(DSP):c.*577G>A rs886061755
NM_004415.3(DSP):c.*598G>T rs886061756
NM_004415.3(DSP):c.*681C>A rs886061757
NM_004415.3(DSP):c.-157G>A rs886061742
NM_004415.3(DSP):c.-179T>C rs886061741
NM_004415.3(DSP):c.-190G>T rs886061740
NM_004415.3(DSP):c.-228C>A rs886061739
NM_004415.3(DSP):c.-260A>G rs886061738
NM_004415.3(DSP):c.-36C>A rs886061743
NM_004415.3(DSP):c.1045-8T>A rs201633815
NM_004415.3(DSP):c.1067C>T (p.Thr356Met)
NM_004415.3(DSP):c.1102A>T (p.Ile368Phe) rs794728112
NM_004415.3(DSP):c.1103T>C (p.Ile368Thr) rs141163578
NM_004415.3(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.3(DSP):c.1112A>G (p.His371Arg)
NM_004415.3(DSP):c.1142T>C (p.Phe381Ser)
NM_004415.3(DSP):c.1180G>A (p.Gly394Arg) rs769054351
NM_004415.3(DSP):c.1225A>T (p.Met409Leu) rs890837021
NM_004415.3(DSP):c.1274G>A (p.Arg425Gln) rs397516916
NM_004415.3(DSP):c.1274G>T (p.Arg425Leu)
NM_004415.3(DSP):c.1297C>T (p.Arg433Cys) rs767032884
NM_004415.3(DSP):c.1308G>C (p.Gln436His)
NM_004415.3(DSP):c.1315G>A (p.Val439Ile) rs587782941
NM_004415.3(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.3(DSP):c.1348C>G (p.Pro450Ala) rs869025390
NM_004415.3(DSP):c.1351C>T (p.Arg451Cys) rs1057518309
NM_004415.3(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.3(DSP):c.1357C>T (p.Pro453Ser) rs1554106845
NM_004415.3(DSP):c.136G>A (p.Gly46Ser) rs371517189
NM_004415.3(DSP):c.1382T>C (p.Ile461Thr) rs1554106853
NM_004415.3(DSP):c.1392A>C (p.Arg464Ser) rs1403332231
NM_004415.3(DSP):c.1397T>C (p.Leu466Pro) rs727504661
NM_004415.3(DSP):c.1419+5G>C rs1004508873
NM_004415.3(DSP):c.1430A>G (p.His477Arg) rs1114167325
NM_004415.3(DSP):c.1469G>A (p.Arg490His) rs747815091
NM_004415.3(DSP):c.146C>G (p.Thr49Ser) rs151153655
NM_004415.3(DSP):c.1484T>C (p.Val495Ala) rs727504518
NM_004415.3(DSP):c.1501G>A (p.Val501Ile) rs368778031
NM_004415.3(DSP):c.1517C>T (p.Pro506Leu) rs876657793
NM_004415.3(DSP):c.1544C>T (p.Pro515Leu) rs730880079
NM_004415.3(DSP):c.1556C>T (p.Ala519Val)
NM_004415.3(DSP):c.1564C>G (p.Leu522Val)
NM_004415.3(DSP):c.1574+3A>G rs1231896749
NM_004415.3(DSP):c.1577T>C (p.Ile526Thr)
NM_004415.3(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.3(DSP):c.163G>T (p.Gly55Cys) rs1214660308
NM_004415.3(DSP):c.1671A>G (p.Ile557Met) rs766505506
NM_004415.3(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.3(DSP):c.170+11G>T rs727505007
NM_004415.3(DSP):c.170+5G>A rs727502996
NM_004415.3(DSP):c.1702-18C>T rs148417566
NM_004415.3(DSP):c.171-3dup rs1554105600
NM_004415.3(DSP):c.171-4T>C rs1554105598
NM_004415.3(DSP):c.1731G>A (p.Met577Ile) rs794728101
NM_004415.3(DSP):c.1743C>T (p.Ala581=) rs139095230
NM_004415.3(DSP):c.1757A>C (p.His586Pro) rs1057519070
NM_004415.3(DSP):c.1840G>A (p.Asp614Asn) rs764951792
NM_004415.3(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.3(DSP):c.1901C>G (p.Thr634Arg) rs139964486
NM_004415.3(DSP):c.1903+3delC rs1064793548
NM_004415.3(DSP):c.193C>T (p.His65Tyr) rs1554105605
NM_004415.3(DSP):c.1942G>T (p.Asp648Tyr) rs200409452
NM_004415.3(DSP):c.1949A>G (p.Asn650Ser) rs145650440
NM_004415.3(DSP):c.194A>G (p.His65Arg)
NM_004415.3(DSP):c.194A>T (p.His65Leu) rs771190708
NM_004415.3(DSP):c.1976_1987del (p.Arg659_Asp662del) rs1554107128
NM_004415.3(DSP):c.1997C>T (p.Thr666Ile) rs200053977
NM_004415.3(DSP):c.2023A>G (p.Ile675Val) rs142619902
NM_004415.3(DSP):c.2037A>G (p.Ile679Met) rs151049942
NM_004415.3(DSP):c.2047G>A (p.Glu683Lys) rs775181391
NM_004415.3(DSP):c.2075C>T (p.Pro692Leu)
NM_004415.3(DSP):c.2081C>T (p.Ala694Val)
NM_004415.3(DSP):c.2122G>A (p.Glu708Lys) rs773113261
NM_004415.3(DSP):c.2131-10T>C rs369821143
NM_004415.3(DSP):c.2134G>A (p.Val712Met) rs397516922
NM_004415.3(DSP):c.2159C>G (p.Ala720Gly) rs1261146655
NM_004415.3(DSP):c.2168T>C (p.Leu723Pro) rs1554107443
NM_004415.3(DSP):c.2201G>A (p.Arg734Lys)
NM_004415.3(DSP):c.2234A>C (p.Glu745Ala) rs969462343
NM_004415.3(DSP):c.2260G>A (p.Glu754Lys) rs730880080
NM_004415.3(DSP):c.2308G>A (p.Val770Ile)
NM_004415.3(DSP):c.2360A>G (p.Tyr787Cys) rs778350289
NM_004415.3(DSP):c.2377G>A (p.Glu793Lys) rs755067397
NM_004415.3(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.3(DSP):c.2415A>C (p.Glu805Asp) rs1554107530
NM_004415.3(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.3(DSP):c.2443A>G (p.Lys815Glu) rs774638728
NM_004415.3(DSP):c.2482A>G (p.Met828Val) rs1338201926
NM_004415.3(DSP):c.249G>A (p.Met83Ile) rs1426930663
NM_004415.3(DSP):c.2540C>T (p.Pro847Leu) rs727504657
NM_004415.3(DSP):c.2550_2552dupTCT (p.Leu851_Asp852insLeu) rs730880373
NM_004415.3(DSP):c.2569G>A (p.Gly857Ser) rs548695484
NM_004415.3(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.3(DSP):c.2597G>A (p.Arg866His) rs764965132
NM_004415.3(DSP):c.2608A>T (p.Ile870Leu)
NM_004415.3(DSP):c.2617C>G (p.Gln873Glu) rs794728118
NM_004415.3(DSP):c.2644G>A (p.Glu882Lys) rs730880081
NM_004415.3(DSP):c.264C>T (p.Ile88=) rs727502997
NM_004415.3(DSP):c.265G>A (p.Val89Met) rs766022243
NM_004415.3(DSP):c.2680A>T (p.Asn894Tyr) rs1060500614
NM_004415.3(DSP):c.2683T>C (p.Tyr895His) rs375891215
NM_004415.3(DSP):c.2689G>C (p.Ala897Pro)
NM_004415.3(DSP):c.274-3C>G rs794729638
NM_004415.3(DSP):c.2747A>C (p.Lys916Thr) rs1554107730
NM_004415.3(DSP):c.2758T>C (p.Ser920Pro) rs373804924
NM_004415.3(DSP):c.2794-4dupA rs397516924
NM_004415.3(DSP):c.2794-6G>A rs397516925
NM_004415.3(DSP):c.2794-7T>C rs397516926
NM_004415.3(DSP):c.2799G>C (p.Leu933Phe) rs372922674
NM_004415.3(DSP):c.2809A>G (p.Ile937Val) rs1287292518
NM_004415.3(DSP):c.2850T>G (p.Ile950Met) rs727502999
NM_004415.3(DSP):c.2866A>T (p.Asn956Tyr) rs397516928
NM_004415.3(DSP):c.2878-4G>A rs758303966
NM_004415.3(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.3(DSP):c.2941A>G (p.Lys981Glu) rs747580402
NM_004415.3(DSP):c.2958G>T (p.Gln986His) rs786205415
NM_004415.3(DSP):c.2966C>T (p.Ser989Phe)
NM_004415.3(DSP):c.3004C>T (p.Arg1002Trp) rs772551736
NM_004415.3(DSP):c.3005G>A (p.Arg1002Gln) rs371234425
NM_004415.3(DSP):c.3025A>G (p.Arg1009Gly) rs1413346143
NM_004415.3(DSP):c.3046T>G (p.Phe1016Val)
NM_004415.3(DSP):c.3067A>C (p.Ser1023Arg)
NM_004415.3(DSP):c.307C>T (p.Arg103Trp)
NM_004415.3(DSP):c.3119A>G (p.Glu1040Gly) rs727505147
NM_004415.3(DSP):c.3134G>A (p.Arg1045Gln) rs374263890
NM_004415.3(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.3(DSP):c.3147G>A (p.Ser1049=) rs756341143
NM_004415.3(DSP):c.3199G>T (p.Ala1067Ser) rs730880083
NM_004415.3(DSP):c.3221C>A (p.Ala1074Glu) rs745849763
NM_004415.3(DSP):c.3259G>A (p.Glu1087Lys)
NM_004415.3(DSP):c.328T>C (p.Cys110Arg) rs1554105823
NM_004415.3(DSP):c.3294C>G (p.Asp1098Glu) rs535762713
NM_004415.3(DSP):c.3323A>G (p.Asn1108Ser) rs771948271
NM_004415.3(DSP):c.3389A>G (p.Asp1130Gly) rs886061746
NM_004415.3(DSP):c.3392G>C (p.Arg1131Thr) rs876657794
NM_004415.3(DSP):c.344A>G (p.Asn115Ser) rs28763958
NM_004415.3(DSP):c.3458T>G (p.Leu1153Arg) rs1554108085
NM_004415.3(DSP):c.3462T>A (p.Gly1154=) rs1554108086
NM_004415.3(DSP):c.3499_3501del (p.Lys1167del) rs1554108091
NM_004415.3(DSP):c.3512T>C (p.Ile1171Thr) rs762449180
NM_004415.3(DSP):c.3530T>A (p.Leu1177Gln) rs770489625
NM_004415.3(DSP):c.3574C>G (p.Leu1192Val) rs1554108118
NM_004415.3(DSP):c.3601G>A (p.Glu1201Lys) rs751566392
NM_004415.3(DSP):c.3646A>G (p.Ile1216Val) rs199795359
NM_004415.3(DSP):c.3649A>T (p.Thr1217Ser) rs770484693
NM_004415.3(DSP):c.364G>A (p.Asp122Asn) rs756013600
NM_004415.3(DSP):c.3680A>G (p.Gln1227Arg)
NM_004415.3(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.3(DSP):c.3740G>A (p.Arg1247Gln) rs867067755
NM_004415.3(DSP):c.3754G>A (p.Glu1252Lys) rs1262533485
NM_004415.3(DSP):c.3760G>A (p.Val1254Ile)
NM_004415.3(DSP):c.3770A>G (p.Asn1257Ser)
NM_004415.3(DSP):c.3774C>A (p.Asp1258Glu) rs748733750
NM_004415.3(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.3(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504
NM_004415.3(DSP):c.3835G>A (p.Ala1279Thr) rs763915365
NM_004415.3(DSP):c.3845C>T (p.Ser1282Phe) rs778780656
NM_004415.3(DSP):c.385C>T (p.Arg129Trp)
NM_004415.3(DSP):c.3899A>G (p.Gln1300Arg) rs1060500619
NM_004415.3(DSP):c.3905G>A (p.Arg1302His) rs760691999
NM_004415.3(DSP):c.3912G>C (p.Glu1304Asp) rs764189408
NM_004415.3(DSP):c.3935C>G (p.Ser1312Cys) rs1554108214
NM_004415.3(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.3(DSP):c.4019G>A (p.Arg1340His)
NM_004415.3(DSP):c.4022G>A (p.Arg1341His)
NM_004415.3(DSP):c.4046G>A (p.Ser1349Asn) rs144465638
NM_004415.3(DSP):c.4156G>A (p.Glu1386Lys) rs397516935
NM_004415.3(DSP):c.4166G>A (p.Ser1389Asn) rs763523853
NM_004415.3(DSP):c.4172A>G (p.Tyr1391Cys) rs727504547
NM_004415.3(DSP):c.4175G>A (p.Arg1392Gln) rs201736018
NM_004415.3(DSP):c.4195A>G (p.Thr1399Ala)
NM_004415.3(DSP):c.422G>C (p.Arg141Thr)
NM_004415.3(DSP):c.4288A>T (p.Ile1430Phe) rs397516937
NM_004415.3(DSP):c.428T>C (p.Leu143Pro) rs746545985
NM_004415.3(DSP):c.4303G>C (p.Ala1435Pro) rs751972271
NM_004415.3(DSP):c.4332A>C (p.Lys1444Asn) rs1374798133
NM_004415.3(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.3(DSP):c.4373G>A (p.Arg1458Gln) rs370063434
NM_004415.3(DSP):c.4385_4386delGCinsTT (p.Ser1462Ile) rs730880090
NM_004415.3(DSP):c.4387G>A (p.Val1463Ile)
NM_004415.3(DSP):c.4396A>G (p.Lys1466Glu)
NM_004415.3(DSP):c.4405C>T (p.Leu1469Phe) rs752121953
NM_004415.3(DSP):c.4472A>T (p.Asp1491Val) rs397516938
NM_004415.3(DSP):c.4478A>C (p.Glu1493Ala) rs760433367
NM_004415.3(DSP):c.4490G>A (p.Arg1497Gln) rs727505037
NM_004415.3(DSP):c.449G>A (p.Arg150Gln) rs587782940
NM_004415.3(DSP):c.4514C>T (p.Ala1505Val) rs375919492
NM_004415.3(DSP):c.4521A>T (p.Leu1507Phe) rs1060500611
NM_004415.3(DSP):c.4527_4559del33 (p.Arg1509_Ser1519del) rs397516939
NM_004415.3(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.3(DSP):c.4565C>T (p.Thr1522Met) rs375150075
NM_004415.3(DSP):c.4573A>G (p.Ile1525Val) rs145796901
NM_004415.3(DSP):c.4630A>G (p.Arg1544Gly) rs1397024926
NM_004415.3(DSP):c.4649C>G (p.Thr1550Ser) rs928167721
NM_004415.3(DSP):c.4670C>T (p.Thr1557Met) rs747582734
NM_004415.3(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.3(DSP):c.4684T>C (p.Ser1562Pro)
NM_004415.3(DSP):c.4723G>A (p.Glu1575Lys) rs727503002
NM_004415.3(DSP):c.4736G>A (p.Arg1579Gln) rs397516942
NM_004415.3(DSP):c.4754C>T (p.Ser1585Leu) rs773622004
NM_004415.3(DSP):c.479G>A (p.Arg160Gln) rs752941845
NM_004415.3(DSP):c.4808G>A (p.Arg1603Lys) rs869025393
NM_004415.3(DSP):c.484C>G (p.Arg162Gly) rs760711308
NM_004415.3(DSP):c.4857G>C (p.Leu1619=) rs373385083
NM_004415.3(DSP):c.485G>T (p.Arg162Leu) rs397516944
NM_004415.3(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.3(DSP):c.4915G>A (p.Val1639Met) rs539587517
NM_004415.3(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.3(DSP):c.497C>T (p.Ser166Phe) rs1060500620
NM_004415.3(DSP):c.5014C>G (p.Gln1672Glu) rs786205416
NM_004415.3(DSP):c.5019A>T (p.Glu1673Asp)
NM_004415.3(DSP):c.5063C>T (p.Ala1688Val) rs372288373
NM_004415.3(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.3(DSP):c.5066T>C (p.Ile1689Thr) rs869025394
NM_004415.3(DSP):c.50T>G (p.Met17Arg)
NM_004415.3(DSP):c.5114G>T (p.Arg1705Met) rs1554108448
NM_004415.3(DSP):c.5123C>G (p.Ser1708Cys)
NM_004415.3(DSP):c.5153T>C (p.Leu1718Ser)
NM_004415.3(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.3(DSP):c.5188G>A (p.Glu1730Lys) rs794727382
NM_004415.3(DSP):c.5217C>T (p.Ser1739=) rs748263306
NM_004415.3(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.3(DSP):c.5242A>G (p.Thr1748Ala) rs1315952619
NM_004415.3(DSP):c.5285G>A (p.Arg1762Gln) rs751849031
NM_004415.3(DSP):c.5316T>C (p.Asp1772=) rs376186141
NM_004415.3(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.3(DSP):c.5351T>C (p.Ile1784Thr) rs1554108491
NM_004415.3(DSP):c.5363A>G (p.Gln1788Arg) rs139673146
NM_004415.3(DSP):c.5379+8C>G rs771984464
NM_004415.3(DSP):c.5383T>A (p.Ser1795Thr) rs764279057
NM_004415.3(DSP):c.5396A>G (p.Gln1799Arg) rs987386495
NM_004415.3(DSP):c.5412G>T (p.Gln1804His) rs779809935
NM_004415.3(DSP):c.5414G>T (p.Cys1805Phe)
NM_004415.3(DSP):c.5542A>G (p.Arg1848Gly) rs886038805
NM_004415.3(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.3(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.3(DSP):c.5570A>C (p.Lys1857Thr) rs1178938416
NM_004415.3(DSP):c.557A>G (p.His186Arg)
NM_004415.3(DSP):c.55C>T (p.Arg19Cys) rs777340009
NM_004415.3(DSP):c.5617C>T (p.Arg1873Cys) rs144392839
NM_004415.3(DSP):c.5631T>C (p.Ala1877=) rs1231651139
NM_004415.3(DSP):c.5698G>A (p.Glu1900Lys)
NM_004415.3(DSP):c.5743C>T (p.Arg1915Cys) rs1461028383
NM_004415.3(DSP):c.5744G>A (p.Arg1915His) rs146617683
NM_004415.3(DSP):c.5757T>G (p.Asp1919Glu) rs727504871
NM_004415.3(DSP):c.5767G>A (p.Glu1923Lys) rs397516948
NM_004415.3(DSP):c.5767G>C (p.Glu1923Gln)
NM_004415.3(DSP):c.578G>T (p.Gly193Val)
NM_004415.3(DSP):c.5794C>T (p.Arg1932Cys) rs748825632
NM_004415.3(DSP):c.5820T>C (p.Asp1940=) rs763026647
NM_004415.3(DSP):c.5839T>C (p.Tyr1947His)
NM_004415.3(DSP):c.5896C>G (p.Leu1966Val) rs1554108700
NM_004415.3(DSP):c.5899G>A (p.Val1967Met) rs397516949
NM_004415.3(DSP):c.5920A>G (p.Lys1974Glu)
NM_004415.3(DSP):c.5932A>G (p.Met1978Val) rs770077556
NM_004415.3(DSP):c.5959G>A (p.Asp1987Asn)
NM_004415.3(DSP):c.596G>A (p.Arg199Lys) rs143648545
NM_004415.3(DSP):c.5976C>A (p.Asp1992Glu) rs763921000
NM_004415.3(DSP):c.5978A>G (p.Lys1993Arg)
NM_004415.3(DSP):c.598-4G>A rs747448946
NM_004415.3(DSP):c.600G>A (p.Ala200=) rs748400605
NM_004415.3(DSP):c.6010G>T (p.Val2004Phe) rs764692193
NM_004415.3(DSP):c.607G>A (p.Asp203Asn) rs374100807
NM_004415.3(DSP):c.6091_6092delTT (p.Leu2031Glyfs) rs397514040
NM_004415.3(DSP):c.6112A>C (p.Lys2038Gln)
NM_004415.3(DSP):c.6185A>G (p.His2062Arg) rs730880086
NM_004415.3(DSP):c.6187C>G (p.Arg2063Gly) rs374090050
NM_004415.3(DSP):c.61G>A (p.Glu21Lys) rs747956457
NM_004415.3(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.3(DSP):c.6247C>G (p.Arg2083Gly)
NM_004415.3(DSP):c.6269A>G (p.Glu2090Gly) rs755069593
NM_004415.3(DSP):c.6275C>T (p.Ala2092Val) rs876657796
NM_004415.3(DSP):c.6284G>A (p.Gly2095Asp) rs1554108784
NM_004415.3(DSP):c.6295_6296delCCinsAT (p.Pro2099Ile) rs587782942
NM_004415.3(DSP):c.6305G>C (p.Gly2102Ala) rs572843477
NM_004415.3(DSP):c.6319G>C (p.Val2107Leu) rs144263721
NM_004415.3(DSP):c.6325G>A (p.Glu2109Lys) rs397516951
NM_004415.3(DSP):c.6345G>T (p.Leu2115Phe) rs766950975
NM_004415.3(DSP):c.6347T>C (p.Ile2116Thr) rs730880087
NM_004415.3(DSP):c.634G>A (p.Ala212Thr)
NM_004415.3(DSP):c.6367C>T (p.Arg2123Cys) rs372242085
NM_004415.3(DSP):c.6415A>G (p.Asn2139Asp) rs762434061
NM_004415.3(DSP):c.6442G>A (p.Ala2148Thr) rs144539278
NM_004415.3(DSP):c.6451C>T (p.Arg2151Trp) rs181608152
NM_004415.3(DSP):c.6505C>G (p.Gln2169Glu)
NM_004415.3(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.3(DSP):c.6538_6540delAAG (p.Lys2180del) rs761044651
NM_004415.3(DSP):c.6542T>C (p.Val2181Ala) rs730880088
NM_004415.3(DSP):c.6557T>G (p.Leu2186Arg) rs876657797
NM_004415.3(DSP):c.6565C>T (p.Arg2189Trp) rs767661570
NM_004415.3(DSP):c.6566G>A (p.Arg2189Gln) rs766933370
NM_004415.3(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.3(DSP):c.6587C>T (p.Thr2196Ile)
NM_004415.3(DSP):c.6610C>T (p.Gln2204Ter) rs876657798
NM_004415.3(DSP):c.663C>G (p.His221Gln)
NM_004415.3(DSP):c.664C>T (p.Arg222Trp)
NM_004415.3(DSP):c.665G>A (p.Arg222Gln)
NM_004415.3(DSP):c.667G>A (p.Gly223Ser) rs200806163
NM_004415.3(DSP):c.6689C>T (p.Pro2230Leu) rs759982048
NM_004415.3(DSP):c.6718C>G (p.Gln2240Glu) rs374262024
NM_004415.3(DSP):c.6765G>T (p.Gln2255His) rs766183320
NM_004415.3(DSP):c.6772A>G (p.Ser2258Gly) rs886038842
NM_004415.3(DSP):c.6812A>C (p.Lys2271Thr) rs730880089
NM_004415.3(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.3(DSP):c.6853C>A (p.Pro2285Thr) rs377085222
NM_004415.3(DSP):c.6859A>T (p.Thr2287Ser) rs869025396
NM_004415.3(DSP):c.687C>T (p.Gly229=)
NM_004415.3(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.3(DSP):c.6885A>T (p.Gln2295His) rs397516954
NM_004415.3(DSP):c.6895G>A (p.Gly2299Ser)
NM_004415.3(DSP):c.6935T>C (p.Val2312Ala) rs886061748
NM_004415.3(DSP):c.6956G>A (p.Gly2319Asp) rs762943687
NM_004415.3(DSP):c.6968T>C (p.Ile2323Thr) rs777901747
NM_004415.3(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.3(DSP):c.7039A>C (p.Ile2347Leu)
NM_004415.3(DSP):c.7039A>G (p.Ile2347Val) rs768837509
NM_004415.3(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.3(DSP):c.7172C>T (p.Ala2391Val) rs879254351
NM_004415.3(DSP):c.7186T>A (p.Tyr2396Asn) rs863225268
NM_004415.3(DSP):c.7213C>A (p.Leu2405Ile) rs774401264
NM_004415.3(DSP):c.7249G>T (p.Asp2417Tyr) rs760501352
NM_004415.3(DSP):c.727-11T>C rs886061745
NM_004415.3(DSP):c.7305G>C (p.Lys2435Asn) rs1554108998
NM_004415.3(DSP):c.7327C>T (p.Leu2443Phe) rs864309585
NM_004415.3(DSP):c.7350_7352delGAA (p.Lys2451del) rs766860183
NM_004415.3(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330
NM_004415.3(DSP):c.7502_7507delGTGAAT (p.Cys2501_Glu2502del) rs1473818298
NM_004415.3(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987
NM_004415.3(DSP):c.7552G>A (p.Val2518Ile) rs757394666
NM_004415.3(DSP):c.7588A>T (p.Ile2530Phe) rs397516958
NM_004415.3(DSP):c.7689_7694dupGAAAAA (p.Lys2564_Asn2565insLysLys) rs1554109062
NM_004415.3(DSP):c.7745T>G (p.Phe2582Cys) rs751712837
NM_004415.3(DSP):c.778-20C>T rs762596346
NM_004415.3(DSP):c.778-4G>C rs1296932263
NM_004415.3(DSP):c.7787T>C (p.Ile2596Thr)
NM_004415.3(DSP):c.7810A>G (p.Ile2604Val) rs1301635888
NM_004415.3(DSP):c.7826T>C (p.Phe2609Ser) rs397516959
NM_004415.3(DSP):c.782C>T (p.Ala261Val) rs139509870
NM_004415.3(DSP):c.7855A>G (p.Ile2619Val) rs767630308
NM_004415.3(DSP):c.7861G>A (p.Ala2621Thr) rs1554109107
NM_004415.3(DSP):c.7864A>G (p.Ile2622Val) rs752616130
NM_004415.3(DSP):c.7924G>A (p.Val2642Ile) rs869025397
NM_004415.3(DSP):c.7934T>C (p.Ile2645Thr) rs749682166
NM_004415.3(DSP):c.797T>C (p.Met266Thr) rs370890663
NM_004415.3(DSP):c.7994C>T (p.Thr2665Met) rs151309106
NM_004415.3(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890
NM_004415.3(DSP):c.8015A>C (p.Gln2672Pro) rs1060500612
NM_004415.3(DSP):c.8020G>A (p.Ala2674Thr) rs397516961
NM_004415.3(DSP):c.8077_8080delAAAG (p.Lys2693Profs) rs879254352
NM_004415.3(DSP):c.8084T>A (p.Phe2695Tyr) rs764994940
NM_004415.3(DSP):c.8101G>A (p.Val2701Met)
NM_004415.3(DSP):c.8122T>A (p.Ser2708Thr) rs924262414
NM_004415.3(DSP):c.8149T>C (p.Trp2717Arg) rs1554109176
NM_004415.3(DSP):c.8152C>A (p.Leu2718Ile) rs727504569
NM_004415.3(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.3(DSP):c.8188delC (p.Gln2730Serfs) rs886038929
NM_004415.3(DSP):c.8201G>A (p.Gly2734Glu)
NM_004415.3(DSP):c.8209G>C (p.Val2737Leu) rs149123428
NM_004415.3(DSP):c.8217G>A (p.Pro2739=) rs755508926
NM_004415.3(DSP):c.8257A>C (p.Lys2753Gln) rs1554109205
NM_004415.3(DSP):c.8275C>T (p.Arg2759Cys) rs148254632
NM_004415.3(DSP):c.8281G>A (p.Ala2761Thr) rs376751288
NM_004415.3(DSP):c.82T>G (p.Tyr28Asp) rs766454930
NM_004415.3(DSP):c.8309A>G (p.Tyr2770Cys) rs371020228
NM_004415.3(DSP):c.8347A>G (p.Ile2783Val) rs786205417
NM_004415.3(DSP):c.8365A>G (p.Ile2789Val) rs397516965
NM_004415.3(DSP):c.8374T>A (p.Ser2792Thr) rs727504570
NM_004415.3(DSP):c.8401C>G (p.Arg2801Gly) rs760215987
NM_004415.3(DSP):c.8433G>A (p.Lys2811=) rs753011095
NM_004415.3(DSP):c.844G>A (p.Glu282Lys) rs397516966
NM_004415.3(DSP):c.8462C>T (p.Ser2821Leu) rs201826850
NM_004415.3(DSP):c.8472_8483delGTCCCGCTCCGG (p.Ser2843_Arg2846del) rs397516967
NM_004415.3(DSP):c.8482G>A (p.Gly2828Ser) rs369682599
NM_004415.3(DSP):c.8487_8498delCCGCTCGGGATC (p.Ser2843_Arg2846del) rs727504704
NM_004415.3(DSP):c.8493_8504dup (p.Arg2846_Arg2847insSerGlySerArg) rs748194022
NM_004415.3(DSP):c.8493_8516del (p.Ser2839_Arg2846del) rs1554109280
NM_004415.3(DSP):c.8495G>T (p.Gly2832Val) rs397516970
NM_004415.3(DSP):c.8507G>A (p.Gly2836Glu) rs764232504
NM_004415.3(DSP):c.8524C>T (p.Arg2842Cys) rs144850908
NM_004415.3(DSP):c.8529_8540delTGGGTCCCGGAG (p.Ser2843_Arg2846del) rs794728151
NM_004415.3(DSP):c.8576_8577del (p.Ser2859Leufs) rs727504909
NM_004415.3(DSP):c.8591T>A (p.Phe2864Tyr) rs1554109334
NM_004415.3(DSP):c.859A>C (p.Asn287His) rs1554106503
NM_004415.3(DSP):c.8602T>A (p.Ser2868Thr) rs1554109346
NM_004415.3(DSP):c.860A>G (p.Asn287Ser) rs138872423
NM_004415.3(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.3(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.3(DSP):c.877_879dup (p.Glu293_Leu294insGlu)
NM_004415.3(DSP):c.895A>G (p.Ser299Gly) rs876657801
NM_004415.3(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.3(DSP):c.922A>C (p.Lys308Gln) rs1060500617
NM_004415.3(DSP):c.927G>T (p.Gln309His) rs876657800
NM_004415.3(DSP):c.939C>T (p.Ser313=) rs766580649
NM_004415.3(DSP):c.946A>G (p.Met316Val) rs201672777
NM_004415.3(DSP):c.955C>G (p.Leu319Val) rs777852039
NM_004415.3(DSP):c.976C>T (p.Leu326Phe) rs117961973
NM_004415.3(DSP):c.979A>G (p.Asn327Asp) rs794727915
NM_004415.3(DSP):c.992A>C (p.Gln331Pro) rs746517026
NM_004415.3(DSP):c.9C>T (p.Cys3=) rs769032973
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg)
NM_004415.4(DSP):c.1473C>T (p.Ser491=)
NM_004415.4(DSP):c.170+5del rs1554104240
NM_004415.4(DSP):c.1702-13T>C
NM_004415.4(DSP):c.1729A>C (p.Met577Leu)
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)
NM_004415.4(DSP):c.2036T>A (p.Ile679Lys)
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu)
NM_004415.4(DSP):c.2186T>C (p.Met729Thr)
NM_004415.4(DSP):c.2299T>G (p.Leu767Val)
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
NM_004415.4(DSP):c.2555A>G (p.Asp852Gly)
NM_004415.4(DSP):c.272C>T (p.Pro91Leu)
NM_004415.4(DSP):c.274-8_274-7delinsAT
NM_004415.4(DSP):c.2878-3C>T
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro)
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val)
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile)
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr)
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)
NM_004415.4(DSP):c.325G>C (p.Glu109Gln)
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly)
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu)
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln)
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile)
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro)
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)
NM_004415.4(DSP):c.4447A>T (p.Ile1483Leu)
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
NM_004415.4(DSP):c.46C>A (p.Arg16Ser)
NM_004415.4(DSP):c.484C>T (p.Arg162Cys) rs760711308
NM_004415.4(DSP):c.485G>A (p.Arg162His)
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu)
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu)
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser)
NM_004415.4(DSP):c.5894A>G (p.Lys1965Arg)
NM_004415.4(DSP):c.6053T>C (p.Ile2018Thr)
NM_004415.4(DSP):c.6181C>G (p.Pro2061Ala)
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val)
NM_004415.4(DSP):c.6686G>T (p.Arg2229Ile)
NM_004415.4(DSP):c.6993T>C (p.Ser2331=)
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu)
NM_004415.4(DSP):c.7848G>A (p.Ser2616=)
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)
NM_004415.4(DSP):c.8198C>T (p.Thr2733Met)
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
NM_004415.4(DSP):c.8508_8517delATCTCGCTCCinsGTCCCGCAGT (p.Gly2836_Ser2839=)
NM_004415.4(DSP):c.965A>G (p.Lys322Arg)

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