NM_001005361.3(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326
|
0.00163
|
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00123
|
NM_001005361.3(DNM2):c.645C>T (p.Asp215=)
|
rs148900299
|
0.00028
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001005361.3(DNM2):c.1546-16C>T
|
rs375554484
|
0.00022
|
NM_001005361.3(DNM2):c.1893+18G>A
|
rs368748557
|
0.00022
|
NM_001005361.3(DNM2):c.882G>A (p.Pro294=)
|
rs144790170
|
0.00018
|
NM_001005361.3(DNM2):c.480C>T (p.Ile160=)
|
rs140036663
|
0.00017
|
NM_001005361.3(DNM2):c.528C>T (p.Pro176=)
|
rs147579870
|
0.00015
|
NM_001005361.3(DNM2):c.1423-12G>A
|
rs376753915
|
0.00014
|
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=)
|
rs200782592
|
0.00014
|
NM_001005361.3(DNM2):c.822G>A (p.Thr274=)
|
rs201763720
|
0.00014
|
NM_001005361.3(DNM2):c.839C>T (p.Thr280Met)
|
rs202155679
|
0.00014
|
NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr)
|
rs144763522
|
0.00013
|
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)
|
rs371412466
|
0.00013
|
NM_001005361.3(DNM2):c.1422+9C>T
|
rs199952853
|
0.00012
|
NM_001005361.3(DNM2):c.957C>T (p.Pro319=)
|
rs141911457
|
0.00012
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
NM_001005361.3(DNM2):c.1659C>T (p.Tyr553=)
|
rs1399189951
|
0.00011
|
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548
|
0.00011
|
NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)
|
rs375151459
|
0.00011
|
NM_001005361.3(DNM2):c.1196+18A>G
|
rs375880464
|
0.00009
|
NM_001005361.3(DNM2):c.2176T>C (p.Tyr726His)
|
rs370459176
|
0.00009
|
NM_001005361.3(DNM2):c.2253T>C (p.Pro751=)
|
rs200155565
|
0.00009
|
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=)
|
rs147463138
|
0.00009
|
NM_001005361.3(DNM2):c.2425A>G (p.Ile809Val)
|
rs144133111
|
0.00009
|
NM_001005361.3(DNM2):c.315C>T (p.Thr105=)
|
rs111837150
|
0.00009
|
NM_001005361.3(DNM2):c.555C>T (p.Asp185=)
|
rs140788791
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001005361.3(DNM2):c.1196+652C>T
|
rs377319162
|
0.00008
|
NM_001005361.3(DNM2):c.876G>A (p.Ser292=)
|
rs749140605
|
0.00008
|
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=)
|
rs369345296
|
0.00007
|
NM_001005361.3(DNM2):c.1671+13C>T
|
rs374047080
|
0.00007
|
NM_001005361.3(DNM2):c.1196+628G>C
|
rs374376619
|
0.00006
|
NM_001005361.3(DNM2):c.1196+778G>C
|
rs763908447
|
0.00006
|
NM_001005361.3(DNM2):c.1437C>T (p.Ile479=)
|
rs146506201
|
0.00006
|
NM_001005361.3(DNM2):c.1449G>A (p.Gln483=)
|
rs750299400
|
0.00006
|
NM_001005361.3(DNM2):c.1782-4G>A
|
rs767424969
|
0.00006
|
NM_001005361.3(DNM2):c.1893+10C>T
|
rs147321173
|
0.00006
|
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)
|
rs554971107
|
0.00006
|
NM_001005361.3(DNM2):c.213G>A (p.Leu71=)
|
rs375324714
|
0.00006
|
NM_001005361.3(DNM2):c.2151G>A (p.Gln717=)
|
rs543921898
|
0.00006
|
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)
|
rs777609224
|
0.00006
|
NM_001005361.3(DNM2):c.312G>A (p.Glu104=)
|
rs144970326
|
0.00006
|
NM_001005361.3(DNM2):c.385+14G>T
|
rs768651962
|
0.00006
|
NM_001005361.3(DNM2):c.1881C>G (p.Pro627=)
|
rs767496363
|
0.00005
|
NM_001005361.3(DNM2):c.1944A>G (p.Gln648=)
|
rs541331101
|
0.00005
|
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=)
|
rs201972896
|
0.00005
|
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu)
|
rs202060910
|
0.00005
|
NM_001005361.3(DNM2):c.384C>T (p.His128=)
|
rs201089328
|
0.00005
|
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)
|
rs372235062
|
0.00005
|
NM_001005361.3(DNM2):c.792C>A (p.Ala264=)
|
rs530978513
|
0.00005
|
NM_001005361.3(DNM2):c.1032C>T (p.Ile344=)
|
rs747050783
|
0.00004
|
NM_001005361.3(DNM2):c.1196+603C>T
|
rs745481476
|
0.00004
|
NM_001005361.3(DNM2):c.1336-13C>T
|
rs369058231
|
0.00004
|
NM_001005361.3(DNM2):c.162-16T>C
|
rs573469750
|
0.00004
|
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met)
|
rs748286191
|
0.00004
|
NM_001005361.3(DNM2):c.1893+17C>T
|
rs45585238
|
0.00004
|
NM_001005361.3(DNM2):c.189C>T (p.Ile63=)
|
rs371493258
|
0.00004
|
NM_001005361.3(DNM2):c.2291+4C>T
|
rs200408852
|
0.00004
|
NM_001005361.3(DNM2):c.2292-15T>A
|
rs534518685
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001005361.3(DNM2):c.327G>A (p.Thr109=)
|
rs369843334
|
0.00004
|
NM_001005361.3(DNM2):c.453C>T (p.Asp151=)
|
rs201681441
|
0.00004
|
NM_001005361.3(DNM2):c.993-14C>T
|
rs761380478
|
0.00004
|
NM_001005361.3(DNM2):c.1041A>C (p.Ser347=)
|
rs764163643
|
0.00003
|
NM_001005361.3(DNM2):c.1196+11C>T
|
rs773099792
|
0.00003
|
NM_001005361.3(DNM2):c.1196+625C>T
|
rs542089703
|
0.00003
|
NM_001005361.3(DNM2):c.1196+640G>A
|
rs774748942
|
0.00003
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
NM_001005361.3(DNM2):c.1461C>T (p.Asn487=)
|
rs780182969
|
0.00003
|
NM_001005361.3(DNM2):c.1518G>C (p.Leu506=)
|
rs201426481
|
0.00003
|
NM_001005361.3(DNM2):c.1558-13C>T
|
rs755260650
|
0.00003
|
NM_001005361.3(DNM2):c.1558-15C>T
|
rs946792072
|
0.00003
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
NM_001005361.3(DNM2):c.177C>A (p.Arg59=)
|
rs762795230
|
0.00003
|
NM_001005361.3(DNM2):c.1839G>T (p.Val613=)
|
rs200146468
|
0.00003
|
NM_001005361.3(DNM2):c.1873G>A (p.Val625Ile)
|
rs759242886
|
0.00003
|
NM_001005361.3(DNM2):c.1922A>G (p.Asn641Ser)
|
rs767924770
|
0.00003
|
NM_001005361.3(DNM2):c.2016C>T (p.Arg672=)
|
rs368131004
|
0.00003
|
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=)
|
rs768285660
|
0.00003
|
NM_001005361.3(DNM2):c.2295C>T (p.Pro765=)
|
rs1040102521
|
0.00003
|
NM_001005361.3(DNM2):c.235+9G>T
|
rs369596325
|
0.00003
|
NM_001005361.3(DNM2):c.2376C>A (p.Pro792=)
|
rs781478890
|
0.00003
|
NM_001005361.3(DNM2):c.2523G>T (p.Gly841=)
|
rs1028907663
|
0.00003
|
NM_001005361.3(DNM2):c.471G>A (p.Lys157=)
|
rs757708760
|
0.00003
|
NM_001005361.3(DNM2):c.750A>G (p.Ala250=)
|
rs202214529
|
0.00003
|
NM_001005361.3(DNM2):c.906C>T (p.Ser302=)
|
rs1314241405
|
0.00003
|
NM_001005361.3(DNM2):c.992+11C>T
|
rs761511769
|
0.00003
|
NM_001005361.3(DNM2):c.1128+12C>T
|
rs537132157
|
0.00002
|
NM_001005361.3(DNM2):c.1196+613C>T
|
rs530195152
|
0.00002
|
NM_001005361.3(DNM2):c.1494-18T>A
|
rs1165508486
|
0.00002
|
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu)
|
rs753402698
|
0.00002
|
NM_001005361.3(DNM2):c.1671+14G>A
|
rs767768534
|
0.00002
|
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=)
|
rs35365412
|
0.00002
|
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=)
|
rs767061986
|
0.00002
|
NM_001005361.3(DNM2):c.1893+19C>A
|
rs1327397775
|
0.00002
|
NM_001005361.3(DNM2):c.2337C>A (p.Gly779=)
|
rs759073717
|
0.00002
|
NM_001005361.3(DNM2):c.525G>A (p.Thr175=)
|
rs748120401
|
0.00002
|
NM_001005361.3(DNM2):c.552C>T (p.Ser184=)
|
rs769028557
|
0.00002
|
NM_001005361.3(DNM2):c.637G>T (p.Gly213Cys)
|
rs767908123
|
0.00002
|
NM_001005361.3(DNM2):c.678G>A (p.Pro226=)
|
rs746637292
|
0.00002
|
NM_001005361.3(DNM2):c.801C>T (p.His267=)
|
rs780755800
|
0.00002
|
NM_001005361.3(DNM2):c.849+20G>A
|
rs995166192
|
0.00002
|
NM_001005361.3(DNM2):c.992+12G>A
|
rs374572993
|
0.00002
|
NM_001005361.3(DNM2):c.1062G>A (p.Leu354=)
|
rs1294460166
|
0.00001
|
NM_001005361.3(DNM2):c.1071C>T (p.Ser357=)
|
rs779241319
|
0.00001
|
NM_001005361.3(DNM2):c.1095C>A (p.Ile365=)
|
rs746959606
|
0.00001
|
NM_001005361.3(DNM2):c.1101C>T (p.His367=)
|
rs768651920
|
0.00001
|
NM_001005361.3(DNM2):c.1128+13G>A
|
rs772437963
|
0.00001
|
NM_001005361.3(DNM2):c.1129-6T>C
|
rs1190685421
|
0.00001
|
NM_001005361.3(DNM2):c.1196+677G>A
|
rs763986985
|
0.00001
|
NM_001005361.3(DNM2):c.1196+703A>G
|
rs1460963465
|
0.00001
|
NM_001005361.3(DNM2):c.1196+709C>T
|
rs1459325416
|
0.00001
|
NM_001005361.3(DNM2):c.1196+771C>T
|
rs775754391
|
0.00001
|
NM_001005361.3(DNM2):c.1336-20C>T
|
rs376646009
|
0.00001
|
NM_001005361.3(DNM2):c.1380C>T (p.Val460=)
|
rs2072021814
|
0.00001
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
rs776126973
|
0.00001
|
NM_001005361.3(DNM2):c.1413G>A (p.Thr471=)
|
rs2072022940
|
0.00001
|
NM_001005361.3(DNM2):c.1423-13C>T
|
rs771343870
|
0.00001
|
NM_001005361.3(DNM2):c.1423-4C>T
|
rs552776205
|
0.00001
|
NM_001005361.3(DNM2):c.1440C>T (p.Asp480=)
|
rs374655671
|
0.00001
|
NM_001005361.3(DNM2):c.1482C>T (p.Ile494=)
|
rs377458236
|
0.00001
|
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905
|
0.00001
|
NM_001005361.3(DNM2):c.1530A>G (p.Arg510=)
|
rs755640122
|
0.00001
|
NM_001005361.3(DNM2):c.1545+9C>A
|
rs1457554222
|
0.00001
|
NM_001005361.3(DNM2):c.1554C>T (p.Ile518=)
|
rs1392112344
|
0.00001
|
NM_001005361.3(DNM2):c.1558-5C>A
|
rs777800520
|
0.00001
|
NM_001005361.3(DNM2):c.1558-9T>G
|
rs748026953
|
0.00001
|
NM_001005361.3(DNM2):c.1578G>T (p.Leu526=)
|
rs774068020
|
0.00001
|
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=)
|
rs774973372
|
0.00001
|
NM_001005361.3(DNM2):c.162-6del
|
rs766449694
|
0.00001
|
NM_001005361.3(DNM2):c.1716C>A (p.Ile572=)
|
rs776999450
|
0.00001
|
NM_001005361.3(DNM2):c.1752C>T (p.His584=)
|
rs552850014
|
0.00001
|
NM_001005361.3(DNM2):c.1758C>T (p.Phe586=)
|
rs766274376
|
0.00001
|
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=)
|
rs201604679
|
0.00001
|
NM_001005361.3(DNM2):c.1781+16G>T
|
rs752355749
|
0.00001
|
NM_001005361.3(DNM2):c.1781+7G>A
|
rs780683090
|
0.00001
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
NM_001005361.3(DNM2):c.1785C>T (p.Asn595=)
|
rs755603323
|
0.00001
|
NM_001005361.3(DNM2):c.1809C>T (p.Ile603=)
|
rs780409124
|
0.00001
|
NM_001005361.3(DNM2):c.183A>G (p.Ser61=)
|
rs149555942
|
0.00001
|
NM_001005361.3(DNM2):c.1851G>A (p.Lys617=)
|
rs2073060033
|
0.00001
|
NM_001005361.3(DNM2):c.1857G>A (p.Ser619=)
|
rs377009386
|
0.00001
|
NM_001005361.3(DNM2):c.1872C>T (p.Gly624=)
|
rs774256221
|
0.00001
|
NM_001005361.3(DNM2):c.1893+11G>A
|
rs763530224
|
0.00001
|
NM_001005361.3(DNM2):c.1893+14C>A
|
rs2073062600
|
0.00001
|
NM_001005361.3(DNM2):c.1894-8G>A
|
rs558330407
|
0.00001
|
NM_001005361.3(DNM2):c.1894-9C>T
|
rs377410182
|
0.00001
|
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
|
rs749994173
|
0.00001
|
NM_001005361.3(DNM2):c.1989C>T (p.Tyr663=)
|
rs754264521
|
0.00001
|
NM_001005361.3(DNM2):c.2097A>G (p.Leu699=)
|
rs572608190
|
0.00001
|
NM_001005361.3(DNM2):c.216G>A (p.Gln72=)
|
rs368075301
|
0.00001
|
NM_001005361.3(DNM2):c.2196G>A (p.Ala732=)
|
rs778166280
|
0.00001
|
NM_001005361.3(DNM2):c.219C>A (p.Leu73=)
|
rs372012614
|
0.00001
|
NM_001005361.3(DNM2):c.2208C>T (p.Ile736=)
|
rs755163979
|
0.00001
|
NM_001005361.3(DNM2):c.2223C>T (p.Thr741=)
|
rs1417413636
|
0.00001
|
NM_001005361.3(DNM2):c.2256C>T (p.Val752=)
|
rs751020224
|
0.00001
|
NM_001005361.3(DNM2):c.2271C>T (p.Leu757=)
|
rs749699725
|
0.00001
|
NM_001005361.3(DNM2):c.2370G>C (p.Gly790=)
|
rs750852426
|
0.00001
|
NM_001005361.3(DNM2):c.2391C>T (p.Pro797=)
|
rs777834732
|
0.00001
|
NM_001005361.3(DNM2):c.2430A>G (p.Pro810=)
|
rs1234478593
|
0.00001
|
NM_001005361.3(DNM2):c.243C>T (p.Ala81=)
|
rs755366581
|
0.00001
|
NM_001005361.3(DNM2):c.2544-17C>G
|
rs945329439
|
0.00001
|
NM_001005361.3(DNM2):c.2544-19G>A
|
rs769617279
|
0.00001
|
NM_001005361.3(DNM2):c.2562G>A (p.Ala854=)
|
rs761141093
|
0.00001
|
NM_001005361.3(DNM2):c.267A>G (p.Lys89=)
|
rs748666756
|
0.00001
|
NM_001005361.3(DNM2):c.360C>T (p.Ile120=)
|
rs1057329372
|
0.00001
|
NM_001005361.3(DNM2):c.385+13G>C
|
rs377633348
|
0.00001
|
NM_001005361.3(DNM2):c.402C>T (p.Leu134=)
|
rs748069348
|
0.00001
|
NM_001005361.3(DNM2):c.456C>T (p.Ile152=)
|
rs763409114
|
0.00001
|
NM_001005361.3(DNM2):c.579C>T (p.Val193=)
|
rs201924777
|
0.00001
|
NM_001005361.3(DNM2):c.592C>T (p.Leu198=)
|
rs770036756
|
0.00001
|
NM_001005361.3(DNM2):c.654C>T (p.Asp218=)
|
rs763948283
|
0.00001
|
NM_001005361.3(DNM2):c.681G>A (p.Leu227=)
|
rs770225926
|
0.00001
|
NM_001005361.3(DNM2):c.688+7C>T
|
rs1031505173
|
0.00001
|
NM_001005361.3(DNM2):c.699C>T (p.Gly233=)
|
rs751844947
|
0.00001
|
NM_001005361.3(DNM2):c.747T>C (p.Arg249=)
|
rs144331982
|
0.00001
|
NM_001005361.3(DNM2):c.807C>T (p.Ala269=)
|
rs752361306
|
0.00001
|
NM_001005361.3(DNM2):c.819C>T (p.Gly273=)
|
rs1464745378
|
0.00001
|
NM_001005361.3(DNM2):c.858C>G (p.Thr286=)
|
rs542637338
|
0.00001
|
NM_001005361.3(DNM2):c.900A>G (p.Leu300=)
|
rs1599552753
|
0.00001
|
NM_001005361.3(DNM2):c.915G>A (p.Leu305=)
|
rs773624569
|
0.00001
|
NM_001005361.3(DNM2):c.960C>T (p.Asp320=)
|
rs774137901
|
0.00001
|
NM_001005361.3(DNM2):c.992+8C>T
|
rs776457890
|
0.00001
|
NM_001005361.3(DNM2):c.993-5C>T
|
rs1465269872
|
0.00001
|
NM_001005361.3(DNM2):c.1074G>T (p.Gly358=)
|
rs750577663
|
|
NM_001005361.3(DNM2):c.1086C>T (p.Ile362=)
|
rs2146014183
|
|
NM_001005361.3(DNM2):c.1092C>T (p.Arg364=)
|
rs2146014258
|
|
NM_001005361.3(DNM2):c.1095C>T (p.Ile365=)
|
|
|
NM_001005361.3(DNM2):c.1128+10C>A
|
rs1010041153
|
|
NM_001005361.3(DNM2):c.1128+12C>G
|
|
|
NM_001005361.3(DNM2):c.1128+13_1128+14insA
|
|
|
NM_001005361.3(DNM2):c.1128+15G>T
|
rs2146014756
|
|
NM_001005361.3(DNM2):c.1128+16G>T
|
|
|
NM_001005361.3(DNM2):c.1128+7C>G
|
rs772959277
|
|
NM_001005361.3(DNM2):c.1131G>A (p.Met377Ile)
|
rs2146022673
|
|
NM_001005361.3(DNM2):c.1146G>A (p.Lys382=)
|
|
|
NM_001005361.3(DNM2):c.1167C>T (p.Ser389=)
|
rs2146022764
|
|
NM_001005361.3(DNM2):c.1170T>C (p.Tyr390=)
|
rs765373844
|
|
NM_001005361.3(DNM2):c.1188T>C (p.His396=)
|
rs1039592560
|
|
NM_001005361.3(DNM2):c.1191A>C (p.Gly397=)
|
|
|
NM_001005361.3(DNM2):c.1196+13A>G
|
|
|
NM_001005361.3(DNM2):c.1196+606G>C
|
|
|
NM_001005361.3(DNM2):c.1196+615G>A
|
|
|
NM_001005361.3(DNM2):c.1196+628G>T
|
rs374376619
|
|
NM_001005361.3(DNM2):c.1196+634C>T
|
rs2146025884
|
|
NM_001005361.3(DNM2):c.1196+646G>A
|
|
|
NM_001005361.3(DNM2):c.1196+655G>A
|
|
|
NM_001005361.3(DNM2):c.1196+676C>G
|
|
|
NM_001005361.3(DNM2):c.1196+676C>T
|
|
|
NM_001005361.3(DNM2):c.1196+698C>T
|
|
|
NM_001005361.3(DNM2):c.1196+700G>A
|
|
|
NM_001005361.3(DNM2):c.1196+730A>G
|
rs1599570127
|
|
NM_001005361.3(DNM2):c.1196+751T>C
|
|
|
NM_001005361.3(DNM2):c.1196+754C>T
|
|
|
NM_001005361.3(DNM2):c.1196+770C>T
|
|
|
NM_001005361.3(DNM2):c.1196+774G>A
|
|
|
NM_001005361.3(DNM2):c.1196+775G>A
|
|
|
NM_001005361.3(DNM2):c.1196+7del
|
rs768397600
|
|
NM_001005361.3(DNM2):c.1336-10G>T
|
rs2146038714
|
|
NM_001005361.3(DNM2):c.1336-5C>T
|
|
|
NM_001005361.3(DNM2):c.1344C>T (p.Ser448=)
|
|
|
NM_001005361.3(DNM2):c.1354T>C (p.Leu452=)
|
rs770599060
|
|
NM_001005361.3(DNM2):c.1356G>A (p.Leu452=)
|
rs2072021007
|
|
NM_001005361.3(DNM2):c.1365G>A (p.Glu455=)
|
rs2146038840
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
NM_001005361.3(DNM2):c.1389C>T (p.Tyr463=)
|
|
|
NM_001005361.3(DNM2):c.1392C>A (p.Ile464=)
|
rs2146038976
|
|
NM_001005361.3(DNM2):c.1422+17T>C
|
rs371841391
|
|
NM_001005361.3(DNM2):c.1422+8_1422+14del
|
rs2146039160
|
|
NM_001005361.3(DNM2):c.1423-8T>C
|
rs1599583116
|
|
NM_001005361.3(DNM2):c.1425T>C (p.Ile475=)
|
|
|
NM_001005361.3(DNM2):c.1434G>A (p.Leu478=)
|
|
|
NM_001005361.3(DNM2):c.1455C>T (p.Tyr485=)
|
|
|
NM_001005361.3(DNM2):c.1464G>A (p.Thr488=)
|
|
|
NM_001005361.3(DNM2):c.1482C>A (p.Ile494=)
|
rs377458236
|
|
NM_001005361.3(DNM2):c.1485G>T (p.Gly495=)
|
|
|
NM_001005361.3(DNM2):c.1493+14G>A
|
|
|
NM_001005361.3(DNM2):c.1493+18C>T
|
|
|
NM_001005361.3(DNM2):c.1493+7A>G
|
|
|
NM_001005361.3(DNM2):c.1494-14T>C
|
|
|
NM_001005361.3(DNM2):c.1494-15G>T
|
|
|
NM_001005361.3(DNM2):c.1494-16_1494-13del
|
|
|
NM_001005361.3(DNM2):c.1494-20T>C
|
|
|
NM_001005361.3(DNM2):c.1494-6T>C
|
rs2146080287
|
|
NM_001005361.3(DNM2):c.1506G>A (p.Arg502=)
|
|
|
NM_001005361.3(DNM2):c.1533C>T (p.Ala511=)
|
|
|
NM_001005361.3(DNM2):c.1536C>T (p.Ile512=)
|
|
|
NM_001005361.3(DNM2):c.1545+14C>T
|
rs114713494
|
|
NM_001005361.3(DNM2):c.1545+17C>A
|
|
|
NM_001005361.3(DNM2):c.1545+17C>T
|
|
|
NM_001005361.3(DNM2):c.1545+18del
|
rs2146080581
|
|
NM_001005361.3(DNM2):c.1545+7C>A
|
|
|
NM_001005361.3(DNM2):c.1546-18A>C
|
rs1426762153
|
|
NM_001005361.3(DNM2):c.1555C>T (p.Leu519=)
|
|
|
NM_001005361.3(DNM2):c.1557+10_1557+15dup
|
rs2146093632
|
|
NM_001005361.3(DNM2):c.1557+20G>A
|
|
|
NM_001005361.3(DNM2):c.1557+9A>T
|
rs778469445
|
|
NM_001005361.3(DNM2):c.1558-11C>A
|
|
|
NM_001005361.3(DNM2):c.1558-12G>A
|
|
|
NM_001005361.3(DNM2):c.1558-16G>A
|
|
|
NM_001005361.3(DNM2):c.1558-16G>T
|
|
|
NM_001005361.3(DNM2):c.1558-5C>T
|
|
|
NM_001005361.3(DNM2):c.1584C>T (p.Ile528=)
|
rs935512495
|
|
NM_001005361.3(DNM2):c.162-13C>T
|
|
|
NM_001005361.3(DNM2):c.162-15C>T
|
|
|
NM_001005361.3(DNM2):c.162-7C>G
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-7C>T
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-8C>A
|
rs747484495
|
|
NM_001005361.3(DNM2):c.162-8C>G
|
rs747484495
|
|
NM_001005361.3(DNM2):c.162-8C>T
|
rs747484495
|
|
NM_001005361.3(DNM2):c.162-9C>G
|
rs200736669
|
|
NM_001005361.3(DNM2):c.162-9C>T
|
|
|
NM_001005361.3(DNM2):c.1641C>T (p.Ala547=)
|
rs538253489
|
|
NM_001005361.3(DNM2):c.1671+16G>T
|
|
|
NM_001005361.3(DNM2):c.1671+18G>T
|
rs2146112377
|
|
NM_001005361.3(DNM2):c.1672-13C>T
|
|
|
NM_001005361.3(DNM2):c.1672-16T>C
|
|
|
NM_001005361.3(DNM2):c.1672-16_1672-15del
|
|
|
NM_001005361.3(DNM2):c.1672-19_1672-16del
|
rs771706714
|
|
NM_001005361.3(DNM2):c.1686G>A (p.Lys562=)
|
|
|
NM_001005361.3(DNM2):c.168C>T (p.Phe56=)
|
|
|
NM_001005361.3(DNM2):c.1699C>T (p.Leu567=)
|
rs1477679266
|
|
NM_001005361.3(DNM2):c.1725G>A (p.Val575=)
|
rs1322970848
|
|
NM_001005361.3(DNM2):c.1734C>T (p.Gly578=)
|
|
|
NM_001005361.3(DNM2):c.174C>T (p.Pro58=)
|
rs773480707
|
|
NM_001005361.3(DNM2):c.177C>T (p.Arg59=)
|
rs762795230
|
|
NM_001005361.3(DNM2):c.1781+10C>G
|
|
|
NM_001005361.3(DNM2):c.1781+12del
|
|
|
NM_001005361.3(DNM2):c.1781+13G>A
|
rs1316933028
|
|
NM_001005361.3(DNM2):c.1781+14G>A
|
|
|
NM_001005361.3(DNM2):c.1782-10C>A
|
|
|
NM_001005361.3(DNM2):c.1782-11C>A
|
|
|
NM_001005361.3(DNM2):c.1782-16C>T
|
|
|
NM_001005361.3(DNM2):c.1782-4G>C
|
rs767424969
|
|
NM_001005361.3(DNM2):c.1782-7C>A
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1782-7C>G
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1782-7C>T
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1798C>T (p.Leu600=)
|
|
|
NM_001005361.3(DNM2):c.1881C>T (p.Pro627=)
|
rs767496363
|
|
NM_001005361.3(DNM2):c.1893+10C>A
|
|
|
NM_001005361.3(DNM2):c.1893+9C>T
|
|
|
NM_001005361.3(DNM2):c.1894-11C>A
|
|
|
NM_001005361.3(DNM2):c.1894-12T>G
|
rs2073097418
|
|
NM_001005361.3(DNM2):c.1894-13_1894-12insA
|
|
|
NM_001005361.3(DNM2):c.1905G>A (p.Glu635=)
|
|
|
NM_001005361.3(DNM2):c.1923C>T (p.Asn641=)
|
|
|
NM_001005361.3(DNM2):c.1971C>T (p.Arg657=)
|
rs559056873
|
|
NM_001005361.3(DNM2):c.1977G>A (p.Leu659=)
|
|
|
NM_001005361.3(DNM2):c.1992G>C (p.Val664=)
|
|
|
NM_001005361.3(DNM2):c.1995C>T (p.Ala665=)
|
rs2073100795
|
|
NM_001005361.3(DNM2):c.2034C>G (p.Thr678=)
|
|
|
NM_001005361.3(DNM2):c.2061G>T (p.Thr687=)
|
rs149164657
|
|
NM_001005361.3(DNM2):c.2064G>A (p.Lys688=)
|
rs930737609
|
|
NM_001005361.3(DNM2):c.2079C>T (p.His693=)
|
rs777872270
|
|
NM_001005361.3(DNM2):c.2095C>T (p.Leu699=)
|
|
|
NM_001005361.3(DNM2):c.2100C>T (p.Tyr700=)
|
rs756845145
|
|
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
|
rs554971107
|
|
NM_001005361.3(DNM2):c.2106G>T (p.Ser702=)
|
rs554971107
|
|
NM_001005361.3(DNM2):c.2107G>A (p.Ala703Thr)
|
rs1299975305
|
|
NM_001005361.3(DNM2):c.210T>C (p.Ile70=)
|
rs878854149
|
|
NM_001005361.3(DNM2):c.2121C>T (p.Ser707=)
|
|
|
NM_001005361.3(DNM2):c.2133G>A (p.Glu711=)
|
|
|
NM_001005361.3(DNM2):c.2136G>A (p.Ser712=)
|
rs1555716924
|
|
NM_001005361.3(DNM2):c.2136G>T (p.Ser712=)
|
rs1555716924
|
|
NM_001005361.3(DNM2):c.2139T>G (p.Ala713=)
|
rs2229920
|
|
NM_001005361.3(DNM2):c.2157G>A (p.Arg719=)
|
|
|
NM_001005361.3(DNM2):c.2163C>T (p.Asp721=)
|
rs770491381
|
|
NM_001005361.3(DNM2):c.2178C>T (p.Tyr726=)
|
|
|
NM_001005361.3(DNM2):c.2229T>C (p.Thr743=)
|
|
|
NM_001005361.3(DNM2):c.2235C>T (p.Ser745=)
|
rs2146205946
|
|
NM_001005361.3(DNM2):c.2238G>A (p.Thr746=)
|
|
|
NM_001005361.3(DNM2):c.2238G>T (p.Thr746=)
|
rs370550750
|
|
NM_001005361.3(DNM2):c.2250G>A (p.Pro750=)
|
rs1446564477
|
|
NM_001005361.3(DNM2):c.2253T>G (p.Pro751=)
|
|
|
NM_001005361.3(DNM2):c.2259T>C (p.Asp753=)
|
|
|
NM_001005361.3(DNM2):c.2277C>T (p.Ser759=)
|
rs757565933
|
|
NM_001005361.3(DNM2):c.2291+16T>G
|
rs2146206194
|
|
NM_001005361.3(DNM2):c.2291+19C>T
|
|
|
NM_001005361.3(DNM2):c.2292-12C>T
|
|
|
NM_001005361.3(DNM2):c.2292-16C>G
|
rs2073285352
|
|
NM_001005361.3(DNM2):c.2292-18C>A
|
|
|
NM_001005361.3(DNM2):c.2292-7C>T
|
rs2073285852
|
|
NM_001005361.3(DNM2):c.2328C>T (p.His776=)
|
rs766387630
|
|
NM_001005361.3(DNM2):c.2334T>C (p.Pro778=)
|
rs2146209802
|
|
NM_001005361.3(DNM2):c.2340G>T (p.Arg780=)
|
|
|
NM_001005361.3(DNM2):c.2349A>T (p.Ala783=)
|
rs2073288189
|
|
NM_001005361.3(DNM2):c.235+10G>A
|
rs769906659
|
|
NM_001005361.3(DNM2):c.235+12C>G
|
rs147026993
|
|
NM_001005361.3(DNM2):c.235+12C>T
|
rs147026993
|
|
NM_001005361.3(DNM2):c.235+13G>A
|
|
|
NM_001005361.3(DNM2):c.235+13G>T
|
|
|
NM_001005361.3(DNM2):c.235+14G>A
|
rs2145855889
|
|
NM_001005361.3(DNM2):c.2352G>A (p.Val784=)
|
rs2146209880
|
|
NM_001005361.3(DNM2):c.2358C>T (p.Gly786=)
|
|
|
NM_001005361.3(DNM2):c.236-10C>A
|
rs1478094557
|
|
NM_001005361.3(DNM2):c.236-18T>C
|
|
|
NM_001005361.3(DNM2):c.236-20C>T
|
|
|
NM_001005361.3(DNM2):c.2364T>C (p.Thr788=)
|
|
|
NM_001005361.3(DNM2):c.2397G>T (p.Gly799=)
|
|
|
NM_001005361.3(DNM2):c.2406C>T (p.Ala802=)
|
rs2146210111
|
|
NM_001005361.3(DNM2):c.243C>G (p.Ala81=)
|
|
|
NM_001005361.3(DNM2):c.2448G>A (p.Gln816=)
|
|
|
NM_001005361.3(DNM2):c.2451C>T (p.Ser817=)
|
rs751961437
|
|
NM_001005361.3(DNM2):c.2466T>C (p.Ser822=)
|
|
|
NM_001005361.3(DNM2):c.246G>A (p.Glu82=)
|
|
|
NM_001005361.3(DNM2):c.2472C>G (p.Leu824=)
|
rs2146210362
|
|
NM_001005361.3(DNM2):c.2499T>C (p.Ser833=)
|
|
|
NM_001005361.3(DNM2):c.2500C>A (p.Arg834=)
|
|
|
NM_001005361.3(DNM2):c.2526T>A (p.Ile842=)
|
rs1173105671
|
|
NM_001005361.3(DNM2):c.2526T>C (p.Ile842=)
|
|
|
NM_001005361.3(DNM2):c.2544-12T>C
|
|
|
NM_001005361.3(DNM2):c.2544-15T>C
|
|
|
NM_001005361.3(DNM2):c.2553C>T (p.Pro851=)
|
|
|
NM_001005361.3(DNM2):c.2571G>A (p.Arg857=)
|
|
|
NM_001005361.3(DNM2):c.2577C>T (p.Thr859=)
|
rs2146214089
|
|
NM_001005361.3(DNM2):c.2583C>A (p.Ile861=)
|
rs1303085497
|
|
NM_001005361.3(DNM2):c.2589A>C (p.Pro863=)
|
rs1555717448
|
|
NM_001005361.3(DNM2):c.2592C>A (p.Ala864=)
|
rs373161548
|
|
NM_001005361.3(DNM2):c.2602C>T (p.Leu868=)
|
|
|
NM_001005361.3(DNM2):c.2607C>A (p.Leu869=)
|
rs144472798
|
|
NM_001005361.3(DNM2):c.2607C>G (p.Leu869=)
|
rs144472798
|
|
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=)
|
rs144472798
|
|
NM_001005361.3(DNM2):c.270G>A (p.Lys90=)
|
|
|
NM_001005361.3(DNM2):c.282T>C (p.Phe94=)
|
|
|
NM_001005361.3(DNM2):c.294G>A (p.Arg98=)
|
rs2145911472
|
|
NM_001005361.3(DNM2):c.297G>A (p.Gln99=)
|
rs896254945
|
|
NM_001005361.3(DNM2):c.354G>A (p.Val118=)
|
|
|
NM_001005361.3(DNM2):c.394T>C (p.Leu132=)
|
rs2145924405
|
|
NM_001005361.3(DNM2):c.417T>A (p.Gly139=)
|
|
|
NM_001005361.3(DNM2):c.429G>A (p.Val143=)
|
rs769461123
|
|
NM_001005361.3(DNM2):c.429G>T (p.Val143=)
|
|
|
NM_001005361.3(DNM2):c.486G>A (p.Gln162=)
|
|
|
NM_001005361.3(DNM2):c.501G>A (p.Glu167=)
|
rs751712223
|
|
NM_001005361.3(DNM2):c.507C>T (p.Ser169=)
|
|
|
NM_001005361.3(DNM2):c.514C>T (p.Leu172=)
|
rs1599530007
|
|
NM_001005361.3(DNM2):c.561C>T (p.Leu187=)
|
rs1599530095
|
|
NM_001005361.3(DNM2):c.570C>A (p.Ala190=)
|
|
|
NM_001005361.3(DNM2):c.573G>A (p.Lys191=)
|
|
|
NM_001005361.3(DNM2):c.579C>G (p.Val193=)
|
|
|
NM_001005361.3(DNM2):c.589+10A>G
|
rs2145924891
|
|
NM_001005361.3(DNM2):c.589+13C>T
|
rs2145924904
|
|
NM_001005361.3(DNM2):c.589+17G>A
|
|
|
NM_001005361.3(DNM2):c.589+19C>A
|
|
|
NM_001005361.3(DNM2):c.590-14C>T
|
|
|
NM_001005361.3(DNM2):c.594A>G (p.Leu198=)
|
rs773813749
|
|
NM_001005361.3(DNM2):c.603C>A (p.Ile201=)
|
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
|
NM_001005361.3(DNM2):c.639C>T (p.Gly213=)
|
|
|
NM_001005361.3(DNM2):c.642C>G (p.Thr214=)
|
rs752944817
|
|
NM_001005361.3(DNM2):c.642C>T (p.Thr214=)
|
rs752944817
|
|
NM_001005361.3(DNM2):c.648C>T (p.Ala216=)
|
rs1060504950
|
|
NM_001005361.3(DNM2):c.688+11G>A
|
|
|
NM_001005361.3(DNM2):c.688+12G>A
|
|
|
NM_001005361.3(DNM2):c.688+12G>T
|
rs557057188
|
|
NM_001005361.3(DNM2):c.688+14G>T
|
|
|
NM_001005361.3(DNM2):c.689-12C>T
|
|
|
NM_001005361.3(DNM2):c.689-19T>C
|
|
|
NM_001005361.3(DNM2):c.695T>A (p.Ile232Asn)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.717G>A (p.Gln239=)
|
|
|
NM_001005361.3(DNM2):c.732C>G (p.Gly244=)
|
|
|
NM_001005361.3(DNM2):c.744C>A (p.Ile248=)
|
rs572493411
|
|
NM_001005361.3(DNM2):c.744C>T (p.Ile248=)
|
|
|
NM_001005361.3(DNM2):c.756G>A (p.Leu252=)
|
rs1422139221
|
|
NM_001005361.3(DNM2):c.771G>A (p.Lys257=)
|
rs2145960350
|
|
NM_001005361.3(DNM2):c.778C>A (p.Leu260Ile)
|
|
|
NM_001005361.3(DNM2):c.789G>C (p.Pro263=)
|
|
|
NM_001005361.3(DNM2):c.837G>A (p.Lys279=)
|
rs2145960645
|
|
NM_001005361.3(DNM2):c.849+19C>T
|
rs558595804
|
|
NM_001005361.3(DNM2):c.849+7C>T
|
rs2071433383
|
|
NM_001005361.3(DNM2):c.849+8A>C
|
rs2145960743
|
|
NM_001005361.3(DNM2):c.849+9A>G
|
|
|
NM_001005361.3(DNM2):c.850-13CT[2]
|
rs1404422473
|
|
NM_001005361.3(DNM2):c.850-3C>T
|
|
|
NM_001005361.3(DNM2):c.850-7C>G
|
rs778548382
|
|
NM_001005361.3(DNM2):c.876G>T (p.Ser292=)
|
rs749140605
|
|
NM_001005361.3(DNM2):c.891T>G (p.Arg297=)
|
|
|
NM_001005361.3(DNM2):c.930G>A (p.Glu310=)
|
rs1599552792
|
|
NM_001005361.3(DNM2):c.936G>A (p.Glu312=)
|
rs949106319
|
|
NM_001005361.3(DNM2):c.987G>C (p.Leu329=)
|
rs761023896
|
|
NM_001005361.3(DNM2):c.988C>T (p.Leu330=)
|
rs2145978278
|
|
NM_001005361.3(DNM2):c.990G>A (p.Leu330=)
|
rs1386181817
|
|
NM_001005361.3(DNM2):c.992+13G>A
|
|
|
NM_001005361.3(DNM2):c.992+13del
|
|
|
NM_001005361.3(DNM2):c.992+14C>T
|
|
|
NM_001005361.3(DNM2):c.992+17CCA[4]
|
|
|
NM_001005361.3(DNM2):c.992+17CCA[6]
|
|
|
NM_001005361.3(DNM2):c.992+19A>T
|
rs2145978561
|
|
NM_001005361.3(DNM2):c.993-16T>A
|
|
|
NM_001005361.3(DNM2):c.993-16T>C
|
|
|
NM_001005361.3(DNM2):c.993-20C>T
|
rs1239150270
|
|
NM_001005361.3(DNM2):c.993-7C>G
|
rs2071833224
|
|