|
NM_005219.5(DIAPH1):c.1461+20G>A
|
rs2302103
|
0.67950
|
|
NM_005219.5(DIAPH1):c.*1041G>A
|
rs6892185
|
0.17917
|
|
NM_005219.5(DIAPH1):c.*933T>A
|
rs55798800
|
0.13233
|
|
NM_005219.5(DIAPH1):c.117+14C>T
|
rs2074913
|
0.05773
|
|
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=)
|
rs34296458
|
0.03749
|
|
NM_005219.5(DIAPH1):c.*1347C>G
|
rs251020
|
0.03434
|
|
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=)
|
rs2302102
|
0.02275
|
|
NM_005219.5(DIAPH1):c.*618G>C
|
rs144081334
|
0.01207
|
|
NM_005219.5(DIAPH1):c.*1304A>G
|
rs112580910
|
0.01163
|
|
NM_005219.5(DIAPH1):c.*1364T>C
|
rs116342492
|
0.01140
|
|
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=)
|
rs35755269
|
0.00955
|
|
NM_005219.5(DIAPH1):c.621-19T>C
|
rs181224861
|
0.00828
|
|
NM_005219.5(DIAPH1):c.*1597G>A
|
rs76801798
|
0.00643
|
|
NM_005219.5(DIAPH1):c.1045-20T>A
|
rs75686999
|
0.00527
|
|
NM_005219.5(DIAPH1):c.*217C>T
|
rs55934506
|
0.00382
|
|
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys)
|
rs143763573
|
0.00356
|
|
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=)
|
rs116463365
|
0.00354
|
|
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=)
|
rs75860159
|
0.00222
|
|
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp)
|
rs200735096
|
0.00207
|
|
NM_005219.5(DIAPH1):c.*1322C>G
|
rs530260919
|
0.00165
|
|
NM_005219.5(DIAPH1):c.*1637G>C
|
rs531768148
|
0.00164
|
|
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)
|
rs182139018
|
0.00147
|
|
NM_005219.5(DIAPH1):c.-22G>T
|
rs530831319
|
0.00128
|
|
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)
|
rs193036129
|
0.00123
|
|
NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=)
|
rs876657451
|
0.00108
|
|
NM_005219.5(DIAPH1):c.*16C>T
|
rs202086273
|
0.00096
|
|
NM_005219.5(DIAPH1):c.*1557C>T
|
rs566532178
|
0.00090
|
|
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr)
|
rs147203145
|
0.00088
|
|
NM_005219.5(DIAPH1):c.*734C>T
|
rs557696634
|
0.00061
|
|
NM_005219.5(DIAPH1):c.*88C>T
|
rs574596779
|
0.00056
|
|
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg)
|
rs201719002
|
0.00055
|
|
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg)
|
rs766804741
|
0.00048
|
|
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)
|
rs376220834
|
0.00043
|
|
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)
|
rs200606811
|
0.00042
|
|
NM_005219.5(DIAPH1):c.2358+15C>G
|
rs375375478
|
0.00042
|
|
NM_005219.5(DIAPH1):c.3574+10G>A
|
rs200327015
|
0.00037
|
|
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)
|
rs199749212
|
0.00036
|
|
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=)
|
rs201149420
|
0.00034
|
|
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr)
|
rs374299911
|
0.00033
|
|
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)
|
rs186370335
|
0.00030
|
|
NM_005219.5(DIAPH1):c.*254G>A
|
rs771538799
|
0.00027
|
|
NM_005219.5(DIAPH1):c.*236T>C
|
rs774939804
|
0.00026
|
|
NM_005219.5(DIAPH1):c.*709C>T
|
rs186922755
|
0.00026
|
|
NM_005219.5(DIAPH1):c.685-5A>G
|
rs367786290
|
0.00023
|
|
NM_005219.5(DIAPH1):c.2070A>C (p.Pro690=)
|
rs1215807447
|
0.00021
|
|
NM_005219.5(DIAPH1):c.300+12A>G
|
rs201535699
|
0.00019
|
|
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val)
|
rs142480526
|
0.00018
|
|
NM_005219.5(DIAPH1):c.301-5C>T
|
rs190481949
|
0.00017
|
|
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys)
|
rs371994484
|
0.00017
|
|
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=)
|
rs369453319
|
0.00017
|
|
NM_005219.5(DIAPH1):c.*870G>A
|
rs558698891
|
0.00016
|
|
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu)
|
rs367981585
|
0.00016
|
|
NM_005219.5(DIAPH1):c.2778+10G>A
|
rs374601448
|
0.00016
|
|
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=)
|
rs369299884
|
0.00016
|
|
NM_005219.5(DIAPH1):c.*867G>A
|
rs1044198282
|
0.00015
|
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
|
NM_005219.5(DIAPH1):c.*1395C>T
|
rs886060027
|
0.00014
|
|
NM_005219.5(DIAPH1):c.144+19G>A
|
rs570074502
|
0.00014
|
|
NM_005219.5(DIAPH1):c.2677-14C>G
|
rs377314966
|
0.00014
|
|
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg)
|
rs775424355
|
0.00014
|
|
NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp)
|
rs369467830
|
0.00014
|
|
NM_005219.5(DIAPH1):c.-27G>T
|
rs749524827
|
0.00013
|
|
NM_005219.5(DIAPH1):c.-28G>C
|
rs573787753
|
0.00013
|
|
NM_005219.5(DIAPH1):c.1701G>A (p.Ala567=)
|
rs371791763
|
0.00013
|
|
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg)
|
rs367669306
|
0.00013
|
|
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg)
|
rs376593325
|
0.00013
|
|
NM_005219.5(DIAPH1):c.3662-14G>A
|
rs369935242
|
0.00013
|
|
NM_005219.5(DIAPH1):c.1462-11T>C
|
rs377546905
|
0.00011
|
|
NM_005219.5(DIAPH1):c.2427T>C (p.Asn809=)
|
rs372347802
|
0.00011
|
|
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile)
|
rs368889655
|
0.00011
|
|
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=)
|
rs750444501
|
0.00011
|
|
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser)
|
rs370849059
|
0.00011
|
|
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp)
|
rs781577050
|
0.00011
|
|
NM_005219.5(DIAPH1):c.*1533C>T
|
rs542820984
|
0.00010
|
|
NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=)
|
rs185113837
|
0.00010
|
|
NM_005219.5(DIAPH1):c.3574+6G>C
|
rs538555634
|
0.00010
|
|
NM_005219.5(DIAPH1):c.*533G>A
|
rs886060031
|
0.00009
|
|
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu)
|
rs750318437
|
0.00009
|
|
NM_005219.5(DIAPH1):c.117+8T>A
|
rs548327056
|
0.00009
|
|
NM_005219.5(DIAPH1):c.1397-14C>T
|
rs201444168
|
0.00009
|
|
NM_005219.5(DIAPH1):c.2079T>C (p.Pro693=)
|
rs745739994
|
0.00009
|
|
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile)
|
rs373275414
|
0.00009
|
|
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val)
|
rs373896015
|
0.00008
|
|
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu)
|
rs369527502
|
0.00008
|
|
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu)
|
rs768743097
|
0.00008
|
|
NM_005219.5(DIAPH1):c.2463C>G (p.Ala821=)
|
rs776449168
|
0.00008
|
|
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val)
|
rs752510907
|
0.00007
|
|
NM_005219.5(DIAPH1):c.2677-11C>T
|
rs371556441
|
0.00007
|
|
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys)
|
rs777195456
|
0.00007
|
|
NM_005219.5(DIAPH1):c.*701T>C
|
rs886060030
|
0.00006
|
|
NM_005219.5(DIAPH1):c.-49A>C
|
rs570498572
|
0.00006
|
|
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln)
|
rs200004048
|
0.00006
|
|
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=)
|
rs200506473
|
0.00006
|
|
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr)
|
rs184081055
|
0.00006
|
|
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp)
|
rs200688040
|
0.00006
|
|
NM_005219.5(DIAPH1):c.533+11T>C
|
rs1230240485
|
0.00006
|
|
NM_005219.5(DIAPH1):c.621-18T>A
|
rs372227402
|
0.00006
|
|
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=)
|
rs369494682
|
0.00006
|
|
NM_005219.5(DIAPH1):c.80C>T (p.Pro27Leu)
|
rs774909066
|
0.00006
|
|
NM_005219.5(DIAPH1):c.*811A>C
|
rs891901311
|
0.00005
|
|
NM_005219.5(DIAPH1):c.1213A>G (p.Lys405Glu)
|
rs551450387
|
0.00005
|
|
NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly)
|
rs187899184
|
0.00005
|
|
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro)
|
rs200973081
|
0.00005
|
|
NM_005219.5(DIAPH1):c.2103C>G (p.Pro701=)
|
rs373613867
|
0.00005
|
|
NM_005219.5(DIAPH1):c.2199C>T (p.Pro733=)
|
rs368848606
|
0.00005
|
|
NM_005219.5(DIAPH1):c.2358+17A>G
|
rs543154317
|
0.00005
|
|
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val)
|
rs200251893
|
0.00005
|
|
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=)
|
rs727502960
|
0.00005
|
|
NM_005219.5(DIAPH1):c.3148+3G>A
|
rs374140734
|
0.00005
|
|
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln)
|
rs770668053
|
0.00005
|
|
NM_005219.5(DIAPH1):c.3450G>A (p.Lys1150=)
|
rs373930400
|
0.00005
|
|
NM_005219.5(DIAPH1):c.3574+16G>A
|
rs371127966
|
0.00005
|
|
NM_005219.5(DIAPH1):c.3574+8G>C
|
rs372735919
|
0.00005
|
|
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=)
|
rs202061556
|
0.00005
|
|
NM_005219.5(DIAPH1):c.922A>G (p.Ile308Val)
|
rs752555506
|
0.00005
|
|
NM_005219.5(DIAPH1):c.*39G>A
|
rs375612034
|
0.00004
|
|
NM_005219.5(DIAPH1):c.*755T>C
|
rs561468918
|
0.00004
|
|
NM_005219.5(DIAPH1):c.1045-11G>A
|
rs755706494
|
0.00004
|
|
NM_005219.5(DIAPH1):c.1281-20C>A
|
rs773242100
|
0.00004
|
|
NM_005219.5(DIAPH1):c.1461+18A>G
|
rs1033883255
|
0.00004
|
|
NM_005219.5(DIAPH1):c.1587A>G (p.Gln529=)
|
rs909731712
|
0.00004
|
|
NM_005219.5(DIAPH1):c.1915A>C (p.Ile639Leu)
|
rs781398463
|
0.00004
|
|
NM_005219.5(DIAPH1):c.2041T>C (p.Leu681=)
|
rs953060204
|
0.00004
|
|
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg)
|
rs374788809
|
0.00004
|
|
NM_005219.5(DIAPH1):c.222A>G (p.Ser74=)
|
rs930344993
|
0.00004
|
|
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu)
|
rs762969077
|
0.00004
|
|
NM_005219.5(DIAPH1):c.2359-19A>T
|
rs746608925
|
0.00004
|
|
NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His)
|
rs752824698
|
0.00004
|
|
NM_005219.5(DIAPH1):c.2538A>G (p.Val846=)
|
rs973415272
|
0.00004
|
|
NM_005219.5(DIAPH1):c.2795G>T (p.Arg932Leu)
|
rs370578225
|
0.00004
|
|
NM_005219.5(DIAPH1):c.280G>C (p.Val94Leu)
|
rs757339076
|
0.00004
|
|
NM_005219.5(DIAPH1):c.3019-8T>C
|
rs749822608
|
0.00004
|
|
NM_005219.5(DIAPH1):c.3149-15T>G
|
rs781409283
|
0.00004
|
|
NM_005219.5(DIAPH1):c.3149-17T>G
|
rs956779234
|
0.00004
|
|
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)
|
rs200394036
|
0.00004
|
|
NM_005219.5(DIAPH1):c.3661+12C>T
|
rs754008936
|
0.00004
|
|
NM_005219.5(DIAPH1):c.3662-17C>T
|
rs371640300
|
0.00004
|
|
NM_005219.5(DIAPH1):c.3662-4G>A
|
rs756395607
|
0.00004
|
|
NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg)
|
rs376832359
|
0.00004
|
|
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His)
|
rs371664456
|
0.00004
|
|
NM_005219.5(DIAPH1):c.453G>A (p.Glu151=)
|
rs749681806
|
0.00004
|
|
NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly)
|
rs756921782
|
0.00004
|
|
NM_005219.5(DIAPH1):c.975G>A (p.Ala325=)
|
rs774957853
|
0.00004
|
|
NM_005219.5(DIAPH1):c.1018C>A (p.Arg340Ser)
|
rs754730261
|
0.00003
|
|
NM_005219.5(DIAPH1):c.1019G>A (p.Arg340His)
|
rs751381728
|
0.00003
|
|
NM_005219.5(DIAPH1):c.1122T>C (p.Tyr374=)
|
rs747665458
|
0.00003
|
|
NM_005219.5(DIAPH1):c.1164-10C>T
|
rs777180488
|
0.00003
|
|
NM_005219.5(DIAPH1):c.117+9C>T
|
rs528279050
|
0.00003
|
|
NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His)
|
rs748159908
|
0.00003
|
|
NM_005219.5(DIAPH1):c.1796C>T (p.Pro599Leu)
|
rs1266407564
|
0.00003
|
|
NM_005219.5(DIAPH1):c.1853C>T (p.Pro618Leu)
|
rs1383273883
|
0.00003
|
|
NM_005219.5(DIAPH1):c.194A>G (p.Asn65Ser)
|
rs954518752
|
0.00003
|
|
NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu)
|
rs760797227
|
0.00003
|
|
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu)
|
rs565706367
|
0.00003
|
|
NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=)
|
rs13175631
|
0.00003
|
|
NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu)
|
rs1292590118
|
0.00003
|
|
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe)
|
rs532205362
|
0.00003
|
|
NM_005219.5(DIAPH1):c.250T>C (p.Leu84=)
|
rs147691941
|
0.00003
|
|
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile)
|
rs745960805
|
0.00003
|
|
NM_005219.5(DIAPH1):c.27G>T (p.Gly9=)
|
rs757885737
|
0.00003
|
|
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr)
|
rs749063652
|
0.00003
|
|
NM_005219.5(DIAPH1):c.3439-5C>T
|
rs768948411
|
0.00003
|
|
NM_005219.5(DIAPH1):c.402+8C>T
|
rs372807596
|
0.00003
|
|
NM_005219.5(DIAPH1):c.560G>C (p.Gly187Ala)
|
rs376465188
|
0.00003
|
|
NM_005219.5(DIAPH1):c.621-4A>G
|
rs772123724
|
0.00003
|
|
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn)
|
rs749058990
|
0.00003
|
|
NM_005219.5(DIAPH1):c.69A>T (p.Pro23=)
|
rs568307383
|
0.00003
|
|
NM_005219.5(DIAPH1):c.942C>T (p.Cys314=)
|
rs761524821
|
0.00003
|
|
NM_005219.5(DIAPH1):c.1281-20C>G
|
rs773242100
|
0.00002
|
|
NM_005219.5(DIAPH1):c.1458G>A (p.Lys486=)
|
rs562629411
|
0.00002
|
|
NM_005219.5(DIAPH1):c.1462-13G>A
|
rs752180364
|
0.00002
|
|
NM_005219.5(DIAPH1):c.1542A>G (p.Gln514=)
|
rs1249282294
|
0.00002
|
|
NM_005219.5(DIAPH1):c.1635A>C (p.Thr545=)
|
rs201643914
|
0.00002
|
|
NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln)
|
rs528268486
|
0.00002
|
|
NM_005219.5(DIAPH1):c.1948A>G (p.Thr650Ala)
|
rs1158959492
|
0.00002
|
|
NM_005219.5(DIAPH1):c.1984G>T (p.Gly662Cys)
|
rs753471630
|
0.00002
|
|
NM_005219.5(DIAPH1):c.2063C>T (p.Pro688Leu)
|
rs775146972
|
0.00002
|
|
NM_005219.5(DIAPH1):c.2137A>G (p.Met713Val)
|
rs764305772
|
0.00002
|
|
NM_005219.5(DIAPH1):c.239C>T (p.Thr80Ile)
|
rs777368467
|
0.00002
|
|
NM_005219.5(DIAPH1):c.2547A>G (p.Leu849=)
|
rs963579651
|
0.00002
|
|
NM_005219.5(DIAPH1):c.2764C>A (p.Gln922Lys)
|
rs766891698
|
0.00002
|
|
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=)
|
rs770304914
|
0.00002
|
|
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His)
|
rs373654027
|
0.00002
|
|
NM_005219.5(DIAPH1):c.2994C>T (p.Gly998=)
|
rs992133469
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn)
|
rs1303934222
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3117C>T (p.Asp1039=)
|
rs778177136
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3149-18_3149-17insG
|
rs773806584
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3149-19T>G
|
rs1181356344
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3195A>G (p.Gln1065=)
|
rs753783398
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3212G>A (p.Arg1071His)
|
rs538492176
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3219T>G (p.Val1073=)
|
rs773708839
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3273+8C>G
|
rs772177335
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly)
|
rs1490710264
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln)
|
rs764296073
|
0.00002
|
|
NM_005219.5(DIAPH1):c.352A>G (p.Ile118Val)
|
rs769174848
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln)
|
rs978882548
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=)
|
rs371385202
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val)
|
rs764739820
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3705G>A (p.Ser1235=)
|
rs776296177
|
0.00002
|
|
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn)
|
rs1474809251
|
0.00002
|
|
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr)
|
rs532196989
|
0.00002
|
|
NM_005219.5(DIAPH1):c.783G>A (p.Lys261=)
|
rs727502962
|
0.00002
|
|
NM_005219.5(DIAPH1):c.856A>G (p.Arg286Gly)
|
rs1325994580
|
0.00002
|
|
NM_005219.5(DIAPH1):c.863A>G (p.Glu288Gly)
|
rs547044466
|
0.00002
|
|
NM_005219.5(DIAPH1):c.933+12C>T
|
rs772703740
|
0.00002
|
|
NM_005219.5(DIAPH1):c.933+6T>C
|
rs948017991
|
0.00002
|
|
NM_005219.5(DIAPH1):c.*1607C>T
|
rs527786719
|
0.00001
|
|
NM_005219.5(DIAPH1):c.*1654C>G
|
rs886060024
|
0.00001
|
|
NM_005219.5(DIAPH1):c.*325G>C
|
rs558843739
|
0.00001
|
|
NM_005219.5(DIAPH1):c.*724C>T
|
rs1019753124
|
0.00001
|
|
NM_005219.5(DIAPH1):c.-85A>G
|
rs886060036
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1000A>G (p.Ile334Val)
|
rs1374331735
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1015A>G (p.Met339Val)
|
rs374115798
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1029A>G (p.Leu343=)
|
rs750394417
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1044+9T>C
|
rs1363077545
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1045-16C>T
|
rs375424442
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr)
|
rs1184130282
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1105G>A (p.Gly369Arg)
|
rs756750537
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1107G>A (p.Gly369=)
|
rs753420499
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1116T>C (p.Asp372=)
|
rs763746608
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1157A>G (p.Glu386Gly)
|
rs1236323559
|
0.00001
|
|
NM_005219.5(DIAPH1):c.117+10C>T
|
rs888332877
|
0.00001
|
|
NM_005219.5(DIAPH1):c.118-9G>C
|
rs1346309649
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu)
|
rs367592859
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1239C>T (p.Ile413=)
|
rs774466966
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1248C>G (p.His416Gln)
|
rs375904152
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1257G>T (p.Leu419Phe)
|
rs371587729
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1262G>A (p.Arg421Gln)
|
rs754559074
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys)
|
rs895429714
|
0.00001
|
|
NM_005219.5(DIAPH1):c.127C>T (p.Arg43Trp)
|
rs1305661080
|
0.00001
|
|
NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln)
|
rs727502964
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=)
|
rs746584977
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg)
|
rs779687295
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1350T>C (p.Pro450=)
|
rs1208045567
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1363C>T (p.Arg455Trp)
|
rs756545968
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1436C>G (p.Ala479Gly)
|
rs1342839445
|
0.00001
|
|
NM_005219.5(DIAPH1):c.144+8C>T
|
rs768557998
|
0.00001
|
|
NM_005219.5(DIAPH1):c.145-1G>A
|
rs763349669
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1462-14C>T
|
rs558029774
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1462-4C>G
|
rs758566221
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1482C>A (p.Ala494=)
|
rs765531203
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His)
|
rs759051179
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)
|
rs2099895754
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala)
|
rs747462106
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg)
|
rs758517099
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1641+7C>A
|
rs1284880934
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1653G>C (p.Leu551=)
|
rs746419756
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1674C>T (p.Ala558=)
|
rs927252375
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1683A>G (p.Glu561=)
|
rs980196269
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1704A>G (p.Ala568=)
|
rs1192346574
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1713T>C (p.Thr571=)
|
rs369024454
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1732A>G (p.Ser578Gly)
|
rs762375683
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1741C>T (p.Pro581Ser)
|
rs772634604
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1744G>C (p.Val582Leu)
|
rs746371106
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1795C>T (p.Pro599Ser)
|
rs372170639
|
0.00001
|
|
NM_005219.5(DIAPH1):c.180G>A (p.Glu60=)
|
rs751683632
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1834C>G (p.Pro612Ala)
|
rs761554818
|
0.00001
|
|
NM_005219.5(DIAPH1):c.1891C>G (p.Pro631Ala)
|
rs769926497
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu)
|
rs751847293
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2025C>T (p.Ile675=)
|
rs557522528
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2035C>T (p.Pro679Ser)
|
rs1455766498
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe)
|
rs778995744
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2100T>C (p.Ile700=)
|
rs755690554
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2105C>T (p.Pro702Leu)
|
rs1229036082
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2111C>T (p.Pro704Leu)
|
rs1245809874
|
0.00001
|
|
NM_005219.5(DIAPH1):c.213T>C (p.Ser71=)
|
rs2099897669
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2203G>T (p.Gly735Cys)
|
rs757761745
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2229C>T (p.Pro743=)
|
rs1361779351
|
0.00001
|
|
NM_005219.5(DIAPH1):c.224A>G (p.Tyr75Cys)
|
rs745759508
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2292A>G (p.Pro764=)
|
rs773214407
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2296G>A (p.Gly766Arg)
|
rs769148092
|
0.00001
|
|
NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly)
|
rs748806020
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2338C>T (p.Arg780Trp)
|
rs754235853
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2359C>T (p.Leu787Phe)
|
rs2099895261
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys)
|
rs766731479
|
0.00001
|
|
NM_005219.5(DIAPH1):c.246G>A (p.Gln82=)
|
rs199982016
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2473+9C>T
|
rs370441015
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2474-11T>C
|
rs1356596414
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro)
|
rs200220260
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2563A>C (p.Lys855Gln)
|
rs991588859
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2568A>G (p.Thr856=)
|
rs771024187
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2589T>C (p.Phe863=)
|
rs1444327928
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2622T>A (p.Ile874=)
|
rs184967634
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr)
|
rs727502961
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2676+16G>A
|
rs369662192
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro)
|
rs746418816
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=)
|
rs779376542
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met)
|
rs773243948
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2778+20G>A
|
rs761883411
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2801G>A (p.Arg934Gln)
|
rs758893826
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2806C>T (p.Arg936Cys)
|
rs750941858
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser)
|
rs1040008297
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2816C>T (p.Ala939Val)
|
rs2099887790
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2841C>T (p.Ser947=)
|
rs760850451
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2850G>A (p.Val950=)
|
rs772045628
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2944C>T (p.Leu982Phe)
|
rs1431409262
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2982T>C (p.Ala994=)
|
rs750890653
|
0.00001
|
|
NM_005219.5(DIAPH1):c.300+7T>C
|
rs760784874
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3018+16A>C
|
rs1428054946
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3019-16C>A
|
rs1040527951
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter)
|
rs1461242879
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln)
|
rs1006618137
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3027C>T (p.Asp1009=)
|
rs555292453
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3038C>T (p.Thr1013Ile)
|
rs752924382
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=)
|
rs727504838
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3128A>G (p.His1043Arg)
|
rs756215904
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3149-13T>G
|
rs946853794
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3149-14T>G
|
rs1474299564
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3149-14_3149-13insG
|
rs774726601
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3149-20_3149-19insG
|
rs761131175
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3156T>G (p.Ala1052=)
|
rs1191755557
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3188A>G (p.Lys1063Arg)
|
rs757169374
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3198T>C (p.Ile1066=)
|
rs906341811
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3209A>C (p.Glu1070Ala)
|
rs760138089
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3274-5T>A
|
rs748520819
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=)
|
rs369559394
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3302A>G (p.Tyr1101Cys)
|
rs772204178
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3340C>G (p.Leu1114Val)
|
rs1283993189
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys)
|
rs756003432
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=)
|
rs727504670
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3419A>G (p.Asn1140Ser)
|
rs1232760149
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln)
|
rs200419320
|
0.00001
|
|
NM_005219.5(DIAPH1):c.344A>G (p.Glu115Gly)
|
rs762848470
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=)
|
rs377665243
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3519G>A (p.Glu1173=)
|
rs1241177697
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3550G>C (p.Glu1184Gln)
|
rs1355259448
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=)
|
rs1455848656
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln)
|
rs373679838
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3655C>T (p.Arg1219Cys)
|
rs373270436
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3661+8A>G
|
rs757441986
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3662-7C>T
|
rs778069558
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser)
|
rs1423948383
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu)
|
rs2099885784
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser)
|
rs748341361
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile)
|
rs546064158
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3803T>C (p.Val1268Ala)
|
rs1163619347
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3808C>T (p.Arg1270Cys)
|
rs758272814
|
0.00001
|
|
NM_005219.5(DIAPH1):c.402+16G>A
|
rs367605861
|
0.00001
|
|
NM_005219.5(DIAPH1):c.512C>G (p.Ser171Cys)
|
rs1251709997
|
0.00001
|
|
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys)
|
rs746125273
|
0.00001
|
|
NM_005219.5(DIAPH1):c.582T>C (p.Ile194=)
|
rs1156521592
|
0.00001
|
|
NM_005219.5(DIAPH1):c.620+14A>G
|
rs571997922
|
0.00001
|
|
NM_005219.5(DIAPH1):c.620+8C>G
|
rs759235916
|
0.00001
|
|
NM_005219.5(DIAPH1):c.621-8A>G
|
rs1393894659
|
0.00001
|
|
NM_005219.5(DIAPH1):c.629A>G (p.Asp210Gly)
|
rs1424725542
|
0.00001
|
|
NM_005219.5(DIAPH1):c.630T>C (p.Asp210=)
|
rs199683670
|
0.00001
|
|
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln)
|
rs727504973
|
0.00001
|
|
NM_005219.5(DIAPH1):c.684+18C>G
|
rs1012134884
|
0.00001
|
|
NM_005219.5(DIAPH1):c.684+6A>G
|
rs1038136298
|
0.00001
|
|
NM_005219.5(DIAPH1):c.685-10G>T
|
rs756403159
|
0.00001
|
|
NM_005219.5(DIAPH1):c.70G>C (p.Asp24His)
|
rs1276900007
|
0.00001
|
|
NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val)
|
rs766359994
|
0.00001
|
|
NM_005219.5(DIAPH1):c.727C>T (p.Leu243=)
|
rs1000750578
|
0.00001
|
|
NM_005219.5(DIAPH1):c.738A>G (p.Arg246=)
|
rs552477223
|
0.00001
|
|
NM_005219.5(DIAPH1):c.75G>A (p.Glu25=)
|
rs760026257
|
0.00001
|
|
NM_005219.5(DIAPH1):c.789T>C (p.Leu263=)
|
rs886060034
|
0.00001
|
|
NM_005219.5(DIAPH1):c.810G>A (p.Pro270=)
|
rs745385668
|
0.00001
|
|
NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala)
|
rs778493344
|
0.00001
|
|
NM_005219.5(DIAPH1):c.840G>A (p.Leu280=)
|
rs1344655686
|
0.00001
|
|
NM_005219.5(DIAPH1):c.882T>A (p.Arg294=)
|
rs757469488
|
0.00001
|
|
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser)
|
rs1034109754
|
0.00001
|
|
NM_005219.5(DIAPH1):c.90C>G (p.Gly30=)
|
rs1355319732
|
0.00001
|
|
NM_005219.5(DIAPH1):c.930G>A (p.Leu310=)
|
rs767345240
|
0.00001
|
|
NM_005219.5(DIAPH1):c.933+14C>G
|
rs769511564
|
0.00001
|
|
NM_005219.5(DIAPH1):c.933+14C>T
|
rs769511564
|
0.00001
|
|
NM_005219.5(DIAPH1):c.99C>T (p.Gly33=)
|
rs773440011
|
0.00001
|
|
NC_000005.10:g.(?_141516831)_(141618934_?)del
|
|
|
|
NC_000005.9:g.(?_140896398)_(140998501_?)dup
|
|
|
|
NM_005219.4(DIAPH1):c.3439-3del
|
rs1335130331
|
|
|
NM_005219.5(DIAPH1):c.*1006T>C
|
rs886060029
|
|
|
NM_005219.5(DIAPH1):c.*1309A>T
|
rs1050712305
|
|
|
NM_005219.5(DIAPH1):c.*1337C>T
|
rs886060028
|
|
|
NM_005219.5(DIAPH1):c.*1444T>G
|
rs886060026
|
|
|
NM_005219.5(DIAPH1):c.*1544A>G
|
rs886060025
|
|
|
NM_005219.5(DIAPH1):c.*224G>A
|
rs182541836
|
|
|
NM_005219.5(DIAPH1):c.*332T>G
|
rs927185230
|
|
|
NM_005219.5(DIAPH1):c.*367C>G
|
rs148686869
|
|
|
NM_005219.5(DIAPH1):c.*521G>A
|
rs2099885681
|
|
|
NM_005219.5(DIAPH1):c.*644C>T
|
rs527315700
|
|
|
NM_005219.5(DIAPH1):c.-82G>A
|
rs886060035
|
|
|
NM_005219.5(DIAPH1):c.1000A>C (p.Ile334Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1002C>G (p.Ile334Met)
|
rs748386464
|
|
|
NM_005219.5(DIAPH1):c.1002C>T (p.Ile334=)
|
rs748386464
|
|
|
NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile)
|
rs2099896282
|
|
|
NM_005219.5(DIAPH1):c.100G>A (p.Gly34Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1016del (p.Met339fs)
|
rs2154596448
|
|
|
NM_005219.5(DIAPH1):c.1018C>G (p.Arg340Gly)
|
|
|
|
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys)
|
rs754730261
|
|
|
NM_005219.5(DIAPH1):c.1021T>C (p.Leu341=)
|
|
|
|
NM_005219.5(DIAPH1):c.1026G>C (p.Gly342=)
|
rs1479604388
|
|
|
NM_005219.5(DIAPH1):c.1034A>G (p.Gln345Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1044+11_1044+16del
|
|
|
|
NM_005219.5(DIAPH1):c.1044+14C>T
|
|
|
|
NM_005219.5(DIAPH1):c.1044+15T>C
|
rs2099896276
|
|
|
NM_005219.5(DIAPH1):c.1044+6A>G
|
|
|
|
NM_005219.5(DIAPH1):c.1044+7T>A
|
|
|
|
NM_005219.5(DIAPH1):c.1044+9T>G
|
|
|
|
NM_005219.5(DIAPH1):c.1045-9T>G
|
rs2154596439
|
|
|
NM_005219.5(DIAPH1):c.104A>G (p.Lys35Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1051C>A (p.Arg351=)
|
|
|
|
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)
|
|
|
|
NM_005219.5(DIAPH1):c.1052G>A (p.Arg351Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.1055A>G (p.Glu352Gly)
|
rs779820289
|
|
|
NM_005219.5(DIAPH1):c.1068A>G (p.Glu356=)
|
rs2099896254
|
|
|
NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His)
|
|
|
|
NM_005219.5(DIAPH1):c.1076G>T (p.Arg359Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter)
|
rs2154597562
|
|
|
NM_005219.5(DIAPH1):c.1095T>C (p.Phe365=)
|
|
|
|
NM_005219.5(DIAPH1):c.1096G>C (p.Asp366His)
|
|
|
|
NM_005219.5(DIAPH1):c.1118C>T (p.Ser373Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.1123G>T (p.Asp375Tyr)
|
|
|
|
NM_005219.5(DIAPH1):c.1126C>T (p.Leu376=)
|
rs141629026
|
|
|
NM_005219.5(DIAPH1):c.1130A>G (p.Lys377Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1137_1138delinsTT (p.Arg379_Leu380=)
|
rs2154596434
|
|
|
NM_005219.5(DIAPH1):c.114A>G (p.Lys38=)
|
rs2154597561
|
|
|
NM_005219.5(DIAPH1):c.1150C>T (p.Arg384Cys)
|
|
|
|
NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His)
|
rs200927557
|
|
|
NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu)
|
rs200927557
|
|
|
NM_005219.5(DIAPH1):c.1154T>C (p.Met385Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.1163+14dup
|
|
|
|
NM_005219.5(DIAPH1):c.1164-3C>A
|
rs2154596419
|
|
|
NM_005219.5(DIAPH1):c.1164-4C>T
|
|
|
|
NM_005219.5(DIAPH1):c.1164-9C>A
|
|
|
|
NM_005219.5(DIAPH1):c.1164-9C>G
|
|
|
|
NM_005219.5(DIAPH1):c.1164T>C (p.Asp388=)
|
|
|
|
NM_005219.5(DIAPH1):c.1167C>T (p.Asp389=)
|
rs759576935
|
|
|
NM_005219.5(DIAPH1):c.116T>C (p.Phe39Ser)
|
rs2154597560
|
|
|
NM_005219.5(DIAPH1):c.117+12_117+15del
|
|
|
|
NM_005219.5(DIAPH1):c.117+18C>T
|
|
|
|
NM_005219.5(DIAPH1):c.117+19C>A
|
|
|
|
NM_005219.5(DIAPH1):c.117+20C>G
|
|
|
|
NM_005219.5(DIAPH1):c.117+9C>G
|
|
|
|
NM_005219.5(DIAPH1):c.1173T>C (p.Asn391=)
|
|
|
|
NM_005219.5(DIAPH1):c.117T>C (p.Phe39=)
|
|
|
|
NM_005219.5(DIAPH1):c.118-18C>G
|
|
|
|
NM_005219.5(DIAPH1):c.118-18C>T
|
rs2099897844
|
|
|
NM_005219.5(DIAPH1):c.118-5C>G
|
|
|
|
NM_005219.5(DIAPH1):c.118-9G>A
|
rs1346309649
|
|
|
NM_005219.5(DIAPH1):c.1191C>G (p.Leu397=)
|
|
|
|
NM_005219.5(DIAPH1):c.1194A>G (p.Leu398=)
|
|
|
|
NM_005219.5(DIAPH1):c.119C>T (p.Thr40Ile)
|
rs1437971317
|
|
|
NM_005219.5(DIAPH1):c.1205A>G (p.Lys402Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.120T>A (p.Thr40=)
|
|
|
|
NM_005219.5(DIAPH1):c.1211C>T (p.Ser404Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1212A>G (p.Ser404=)
|
rs749220748
|
|
|
NM_005219.5(DIAPH1):c.1220A>G (p.Glu407Gly)
|
|
|
|
NM_005219.5(DIAPH1):c.1230C>A (p.Phe410Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1230C>T (p.Phe410=)
|
|
|
|
NM_005219.5(DIAPH1):c.1236C>A (p.Ser412=)
|
|
|
|
NM_005219.5(DIAPH1):c.1253T>A (p.Leu418His)
|
|
|
|
NM_005219.5(DIAPH1):c.1258G>A (p.Val420Ile)
|
rs2099896137
|
|
|
NM_005219.5(DIAPH1):c.1262G>T (p.Arg421Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1265A>T (p.Asn422Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.1268A>C (p.Asp423Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.1280+15T>C
|
rs2154596414
|
|
|
NM_005219.5(DIAPH1):c.1280+2T>G
|
rs2154596416
|
|
|
NM_005219.5(DIAPH1):c.1280+3A>G
|
rs747583916
|
|
|
NM_005219.5(DIAPH1):c.1280+7T>C
|
rs2154596415
|
|
|
NM_005219.5(DIAPH1):c.1281-13T>C
|
|
|
|
NM_005219.5(DIAPH1):c.1281-6T>C
|
|
|
|
NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His)
|
|
|
|
NM_005219.5(DIAPH1):c.1287G>A (p.Gln429=)
|
rs748159908
|
|
|
NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys)
|
|
|
|
NM_005219.5(DIAPH1):c.12C>T (p.Pro4=)
|
|
|
|
NM_005219.5(DIAPH1):c.1308A>G (p.Glu436=)
|
|
|
|
NM_005219.5(DIAPH1):c.1310G>A (p.Cys437Tyr)
|
rs2099896035
|
|
|
NM_005219.5(DIAPH1):c.1311T>C (p.Cys437=)
|
|
|
|
NM_005219.5(DIAPH1):c.1319A>G (p.Gln440Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.132C>T (p.Leu44=)
|
|
|
|
NM_005219.5(DIAPH1):c.1341G>A (p.Gly447=)
|
|
|
|
NM_005219.5(DIAPH1):c.1348C>A (p.Pro450Thr)
|
rs1263533400
|
|
|
NM_005219.5(DIAPH1):c.1348C>G (p.Pro450Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.1358A>G (p.Lys453Arg)
|
rs368435886
|
|
|
NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=)
|
rs764490603
|
|
|
NM_005219.5(DIAPH1):c.1368C>T (p.His456=)
|
|
|
|
NM_005219.5(DIAPH1):c.1369C>T (p.Leu457Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.1371C>T (p.Leu457=)
|
|
|
|
NM_005219.5(DIAPH1):c.1376T>C (p.Ile459Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.1377T>A (p.Ile459=)
|
rs1454630812
|
|
|
NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val)
|
|
|
|
NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.1386G>A (p.Glu462=)
|
|
|
|
NM_005219.5(DIAPH1):c.1396+11T>C
|
|
|
|
NM_005219.5(DIAPH1):c.1396+7A>G
|
|
|
|
NM_005219.5(DIAPH1):c.1396+9A>G
|
rs763317731
|
|
|
NM_005219.5(DIAPH1):c.1397-13T>C
|
rs1347799875
|
|
|
NM_005219.5(DIAPH1):c.1397-14CTT[2]
|
rs771642064
|
|
|
NM_005219.5(DIAPH1):c.1397-22_1397-19del
|
|
|
|
NM_005219.5(DIAPH1):c.1397-3C>T
|
rs2154596393
|
|
|
NM_005219.5(DIAPH1):c.1397-9T>C
|
|
|
|
NM_005219.5(DIAPH1):c.139G>C (p.Asp47His)
|
rs2154596729
|
|
|
NM_005219.5(DIAPH1):c.13G>A (p.Gly5Ser)
|
rs2154597569
|
|
|
NM_005219.5(DIAPH1):c.1406T>C (p.Ile469Thr)
|
rs2154596392
|
|
|
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly)
|
rs1596381822
|
|
|
NM_005219.5(DIAPH1):c.140A>T (p.Asp47Val)
|
|
|
|
NM_005219.5(DIAPH1):c.1417A>G (p.Lys473Glu)
|
|
|
|
NM_005219.5(DIAPH1):c.1420G>A (p.Val474Met)
|
|
|
|
NM_005219.5(DIAPH1):c.1420_1421delinsAG (p.Val474Arg)
|
rs2154596391
|
|
|
NM_005219.5(DIAPH1):c.1439A>C (p.Lys480Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg)
|
rs547070097
|
|
|
NM_005219.5(DIAPH1):c.144+11T>C
|
|
|
|
NM_005219.5(DIAPH1):c.144+14G>A
|
rs779974546
|
|
|
NM_005219.5(DIAPH1):c.144+18A>G
|
|
|
|
NM_005219.5(DIAPH1):c.144+20C>T
|
|
|
|
NM_005219.5(DIAPH1):c.144+2T>G
|
|
|
|
NM_005219.5(DIAPH1):c.144+5G>C
|
|
|
|
NM_005219.5(DIAPH1):c.145-12dup
|
rs1311979036
|
|
|
NM_005219.5(DIAPH1):c.145-14T>C
|
|
|
|
NM_005219.5(DIAPH1):c.145-17T>C
|
|
|
|
NM_005219.5(DIAPH1):c.145-20T>A
|
|
|
|
NM_005219.5(DIAPH1):c.145-20T>C
|
|
|
|
NM_005219.5(DIAPH1):c.145-5C>A
|
rs1596392507
|
|
|
NM_005219.5(DIAPH1):c.1461+10A>G
|
|
|
|
NM_005219.5(DIAPH1):c.1461+16C>G
|
|
|
|
NM_005219.5(DIAPH1):c.1461+19_1461+20delinsGA
|
rs2154596389
|
|
|
NM_005219.5(DIAPH1):c.1461+20_1461+21delinsAG
|
rs2154596388
|
|
|
NM_005219.5(DIAPH1):c.1461+6T>C
|
|
|
|
NM_005219.5(DIAPH1):c.1462-15dup
|
rs777822030
|
|
|
NM_005219.5(DIAPH1):c.1462-19T>G
|
rs2154596349
|
|
|
NM_005219.5(DIAPH1):c.1462-7dup
|
rs1289998659
|
|
|
NM_005219.5(DIAPH1):c.1468T>C (p.Ser490Pro)
|
rs2154596348
|
|
|
NM_005219.5(DIAPH1):c.1476A>T (p.Leu492Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.147G>A (p.Leu49=)
|
|
|
|
NM_005219.5(DIAPH1):c.1480G>T (p.Ala494Ser)
|
rs2099895764
|
|
|
NM_005219.5(DIAPH1):c.1483C>T (p.Arg495Ter)
|
|
|
|
NM_005219.5(DIAPH1):c.1488T>C (p.His496=)
|
rs2154596345
|
|
|
NM_005219.5(DIAPH1):c.1494A>G (p.Leu498=)
|
|
|
|
NM_005219.5(DIAPH1):c.1496A>G (p.Gln499Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met)
|
rs1393807954
|
|
|
NM_005219.5(DIAPH1):c.1501G>A (p.Glu501Lys)
|
|
|
|
NM_005219.5(DIAPH1):c.1509A>G (p.Lys503=)
|
rs763833539
|
|
|
NM_005219.5(DIAPH1):c.1513A>T (p.Met505Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val)
|
|
|
|
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly)
|
rs373413837
|
|
|
NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu)
|
|
|
|
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr)
|
rs2099897675
|
|
|
NM_005219.5(DIAPH1):c.1530G>A (p.Glu510=)
|
|
|
|
NM_005219.5(DIAPH1):c.1531C>A (p.Gln511Lys)
|
rs2099895757
|
|
|
NM_005219.5(DIAPH1):c.1535A>G (p.Lys512Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1539T>G (p.Leu513=)
|
|
|
|
NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu)
|
rs2099897674
|
|
|
NM_005219.5(DIAPH1):c.1553G>C (p.Gly518Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.1567C>T (p.Leu523=)
|
|
|
|
NM_005219.5(DIAPH1):c.1569G>A (p.Leu523=)
|
|
|
|
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr)
|
rs1453865659
|
|
|
NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.1590T>C (p.Ile530=)
|
rs768960181
|
|
|
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile)
|
rs1446595487
|
|
|
NM_005219.5(DIAPH1):c.1599G>A (p.Glu533=)
|
|
|
|
NM_005219.5(DIAPH1):c.1606G>A (p.Asp536Asn)
|
rs377104351
|
|
|
NM_005219.5(DIAPH1):c.1606G>T (p.Asp536Tyr)
|
rs377104351
|
|
|
NM_005219.5(DIAPH1):c.1609C>T (p.Leu537=)
|
|
|
|
NM_005219.5(DIAPH1):c.1613A>C (p.Glu538Ala)
|
rs2154596341
|
|
|
NM_005219.5(DIAPH1):c.1617A>G (p.Ala539=)
|
|
|
|
NM_005219.5(DIAPH1):c.1630C>T (p.Leu544Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.1634C>T (p.Thr545Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.1636G>A (p.Gly546Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1637G>A (p.Gly546Glu)
|
|
|
|
NM_005219.5(DIAPH1):c.1639G>A (p.Glu547Lys)
|
|
|
|
NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln)
|
rs1317819365
|
|
|
NM_005219.5(DIAPH1):c.1641+14A>C
|
|
|
|
NM_005219.5(DIAPH1):c.1641+7C>T
|
rs1284880934
|
|
|
NM_005219.5(DIAPH1):c.1641+9T>C
|
|
|
|
NM_005219.5(DIAPH1):c.1641G>A (p.Glu547=)
|
rs2099895745
|
|
|
NM_005219.5(DIAPH1):c.1642-14T>C
|
|
|
|
NM_005219.5(DIAPH1):c.1642-15A>G
|
|
|
|
NM_005219.5(DIAPH1):c.1642-19A>G
|
|
|
|
NM_005219.5(DIAPH1):c.1642-20C>T
|
|
|
|
NM_005219.5(DIAPH1):c.1642-9T>C
|
rs1291801608
|
|
|
NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.1650G>A (p.Lys550=)
|
|
|
|
NM_005219.5(DIAPH1):c.1666G>C (p.Glu556Gln)
|
rs2099895618
|
|
|
NM_005219.5(DIAPH1):c.1676A>G (p.Lys559Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1677G>T (p.Lys559Asn)
|
|
|
|
NM_005219.5(DIAPH1):c.1681G>A (p.Glu561Lys)
|
rs2154596316
|
|
|
NM_005219.5(DIAPH1):c.1689T>A (p.Ala563=)
|
|
|
|
NM_005219.5(DIAPH1):c.169A>G (p.Ile57Val)
|
rs2099897673
|
|
|
NM_005219.5(DIAPH1):c.16G>A (p.Gly6Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val)
|
rs886042233
|
|
|
NM_005219.5(DIAPH1):c.1712C>G (p.Thr571Ser)
|
rs1562321607
|
|
|
NM_005219.5(DIAPH1):c.1717C>A (p.Pro573Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.1726G>A (p.Val576Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.1727T>C (p.Val576Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.172AAG[1] (p.Lys59del)
|
|
|
|
NM_005219.5(DIAPH1):c.1734T>G (p.Ser578Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)
|
|
|
|
NM_005219.5(DIAPH1):c.1737T>C (p.Arg579=)
|
|
|
|
NM_005219.5(DIAPH1):c.1737T>G (p.Arg579=)
|
|
|
|
NM_005219.5(DIAPH1):c.1742C>G (p.Pro581Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1755C>T (p.Ala585=)
|
rs1470817454
|
|
|
NM_005219.5(DIAPH1):c.1756C>T (p.Pro586Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1757C>T (p.Pro586Leu)
|
rs2099895599
|
|
|
NM_005219.5(DIAPH1):c.1762T>A (p.Leu588Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.1766C>T (p.Pro589Leu)
|
rs953769579
|
|
|
NM_005219.5(DIAPH1):c.1768G>A (p.Gly590Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp)
|
rs189809247
|
|
|
NM_005219.5(DIAPH1):c.1769G>C (p.Gly590Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
|
NM_005219.5(DIAPH1):c.1779C>T (p.Gly593=)
|
|
|
|
NM_005219.5(DIAPH1):c.1781C>A (p.Thr594Asn)
|
|
|
|
NM_005219.5(DIAPH1):c.1781C>T (p.Thr594Ile)
|
rs1562321356
|
|
|
NM_005219.5(DIAPH1):c.1784T>G (p.Ile595Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1787T>C (p.Ile596Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.1788T>C (p.Ile596=)
|
|
|
|
NM_005219.5(DIAPH1):c.1791ACC[1] (p.Pro599_Pro600del)
|
rs1285003139
|
|
|
NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.1802C>G (p.Ala601Gly)
|
|
|
|
NM_005219.5(DIAPH1):c.1805C>T (p.Pro602Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1806T>G (p.Pro602=)
|
rs2154596309
|
|
|
NM_005219.5(DIAPH1):c.1808G>C (p.Gly603Ala)
|
rs779887319
|
|
|
NM_005219.5(DIAPH1):c.1820C>A (p.Thr607Asn)
|
|
|
|
NM_005219.5(DIAPH1):c.1820C>T (p.Thr607Ile)
|
rs2099895593
|
|
|
NM_005219.5(DIAPH1):c.1821T>G (p.Thr607=)
|
rs2154596306
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_Pro620dup)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[17] (p.Pro615_Pro620dup)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[4] (p.Pro614_Pro620del)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1822C>G (p.Pro608Ala)
|
rs749881969
|
|
|
NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1830T>C (p.Pro610=)
|
|
|
|
NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu)
|
rs1421185830
|
|
|
NM_005219.5(DIAPH1):c.1836_1837insTCTCCT (p.Pro612_Pro613insSerPro)
|
|
|
|
NM_005219.5(DIAPH1):c.1838C>G (p.Pro613Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1838C>T (p.Pro613Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.183G>A (p.Lys61=)
|
|
|
|
NM_005219.5(DIAPH1):c.1840_1860dup (p.Pro620_Leu621insProProProProProProPro)
|
|
|
|
NM_005219.5(DIAPH1):c.1841C>T (p.Pro614Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1842T>G (p.Pro614=)
|
rs71583653
|
|
|
NM_005219.5(DIAPH1):c.1843C>T (p.Pro615Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1846C>T (p.Pro616Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del)
|
rs1562320961
|
|
|
NM_005219.5(DIAPH1):c.1849C>T (p.Pro617Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1852C>A (p.Pro618Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.1852C>T (p.Pro618Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup)
|
rs1562320985
|
|
|
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=)
|
rs374236039
|
|
|
NM_005219.5(DIAPH1):c.1854_1856dup (p.Pro620dup)
|
rs2099895584
|
|
|
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup)
|
rs773918503
|
|
|
NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu)
|
rs2154596301
|
|
|
NM_005219.5(DIAPH1):c.1859C>A (p.Pro620His)
|
rs774876990
|
|
|
NM_005219.5(DIAPH1):c.1859C>T (p.Pro620Leu)
|
rs774876990
|
|
|
NM_005219.5(DIAPH1):c.1859_1860insCCCTCC (p.Pro620_Leu621insProPro)
|
|
|
|
NM_005219.5(DIAPH1):c.1861T>G (p.Leu621Val)
|
|
|
|
NM_005219.5(DIAPH1):c.1871G>A (p.Gly624Asp)
|
|
|
|
NM_005219.5(DIAPH1):c.1879A>G (p.Ile627Val)
|
|
|
|
NM_005219.5(DIAPH1):c.1881C>T (p.Ile627=)
|
|
|
|
NM_005219.5(DIAPH1):c.1891C>A (p.Pro631Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1892CTT[1] (p.Ser632del)
|
rs1361907715
|
|
|
NM_005219.5(DIAPH1):c.1894T>C (p.Ser632Pro)
|
|
|
|
NM_005219.5(DIAPH1):c.189G>A (p.Lys63=)
|
rs762043047
|
|
|
NM_005219.5(DIAPH1):c.1901C>G (p.Pro634Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.1908T>C (p.Gly636=)
|
|
|
|
NM_005219.5(DIAPH1):c.1910C>A (p.Thr637Asn)
|
|
|
|
NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val)
|
rs781398463
|
|
|
NM_005219.5(DIAPH1):c.1919C>G (p.Ser640Cys)
|
|
|
|
NM_005219.5(DIAPH1):c.1925C>T (p.Pro642Leu)
|
rs2099895573
|
|
|
NM_005219.5(DIAPH1):c.1926C>T (p.Pro642=)
|
rs1044362474
|
|
|
NM_005219.5(DIAPH1):c.1927C>A (p.Pro643Thr)
|
rs768458531
|
|
|
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.1927C>T (p.Pro643Ser)
|
rs768458531
|
|
|
NM_005219.5(DIAPH1):c.1928C>A (p.Pro643His)
|
|
|
|
NM_005219.5(DIAPH1):c.1935G>A (p.Leu645=)
|
rs2099895570
|
|
|
NM_005219.5(DIAPH1):c.1936_1971del (p.Ser646_Leu657del)
|
|
|
|
NM_005219.5(DIAPH1):c.193A>G (p.Asn65Asp)
|
|
|
|
NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly)
|
rs886060032
|
|
|
NM_005219.5(DIAPH1):c.1952T>A (p.Ile651Asn)
|
|
|
|
NM_005219.5(DIAPH1):c.1955C>T (p.Pro652Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1960C>T (p.Pro654Ser)
|
rs931286798
|
|
|
NM_005219.5(DIAPH1):c.1962C>G (p.Pro654=)
|
|
|
|
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala)
|
rs201827139
|
|
|
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His)
|
rs367669306
|
|
|
NM_005219.5(DIAPH1):c.1967C>T (p.Pro656Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.1978G>A (p.Gly660Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.1978G>T (p.Gly660Cys)
|
|
|
|
NM_005219.5(DIAPH1):c.197C>G (p.Ser66Cys)
|
rs1414699859
|
|
|
NM_005219.5(DIAPH1):c.198T>A (p.Ser66=)
|
|
|
|
NM_005219.5(DIAPH1):c.1991C>G (p.Pro664Arg)
|
rs2099895558
|
|
|
NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del)
|
rs1323222030
|
|
|
NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.2005T>C (p.Leu669=)
|
rs1554208002
|
|
|
NM_005219.5(DIAPH1):c.2007G>A (p.Leu669=)
|
|
|
|
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe)
|
rs1284785470
|
|
|
NM_005219.5(DIAPH1):c.2010T>C (p.Pro670=)
|
rs2154596297
|
|
|
NM_005219.5(DIAPH1):c.2013_2048dup (p.Gly672_Gly683dup)
|
rs2154596291
|
|
|
NM_005219.5(DIAPH1):c.2015G>A (p.Gly672Asp)
|
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NM_005219.5(DIAPH1):c.2017A>G (p.Thr673Ala)
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NM_005219.5(DIAPH1):c.2018C>T (p.Thr673Ile)
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rs13174988
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NM_005219.5(DIAPH1):c.2023A>G (p.Ile675Val)
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rs1596378879
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NM_005219.5(DIAPH1):c.2024T>C (p.Ile675Thr)
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rs2154596293
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NM_005219.5(DIAPH1):c.2025C>A (p.Ile675=)
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NM_005219.5(DIAPH1):c.2025C>G (p.Ile675Met)
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rs557522528
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NM_005219.5(DIAPH1):c.2026C>T (p.Pro676Ser)
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rs1160456432
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NM_005219.5(DIAPH1):c.2028C>T (p.Pro676=)
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rs769801420
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NM_005219.5(DIAPH1):c.2028_2030del (p.Pro680del)
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NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)
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rs761912885
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NM_005219.5(DIAPH1):c.2030C>G (p.Pro677Arg)
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NM_005219.5(DIAPH1):c.2030C>T (p.Pro677Leu)
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rs761912885
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NM_005219.5(DIAPH1):c.2034_2072del (p.Arg686_Ala698del)
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NM_005219.5(DIAPH1):c.2036C>G (p.Pro679Arg)
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NM_005219.5(DIAPH1):c.2050A>T (p.Ser684Cys)
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rs2154596289
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NM_005219.5(DIAPH1):c.2056A>G (p.Arg686Gly)
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NM_005219.5(DIAPH1):c.2056_2094del (p.Arg686_Ala698del)
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rs768124450
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NM_005219.5(DIAPH1):c.2057G>T (p.Arg686Ile)
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NM_005219.5(DIAPH1):c.2061C>G (p.Ile687Met)
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rs1436744741
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NM_005219.5(DIAPH1):c.2061C>T (p.Ile687=)
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NM_005219.5(DIAPH1):c.2064C>A (p.Pro688=)
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NM_005219.5(DIAPH1):c.2066C>G (p.Pro689Arg)
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rs1233431834
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NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del)
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rs746438941
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NM_005219.5(DIAPH1):c.2068C>T (p.Pro690Ser)
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NM_005219.5(DIAPH1):c.206G>C (p.Arg69Thr)
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rs1356506474
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NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser)
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rs1334098898
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NM_005219.5(DIAPH1):c.2075C>G (p.Pro692Arg)
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NM_005219.5(DIAPH1):c.2091T>A (p.Ser697Arg)
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NM_005219.5(DIAPH1):c.2092G>A (p.Ala698Thr)
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NM_005219.5(DIAPH1):c.2094T>A (p.Ala698=)
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rs1184461104
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NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn)
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rs199830182
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NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr)
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rs199830182
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NM_005219.5(DIAPH1):c.2100dup (p.Pro701fs)
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rs2154596284
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NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr)
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rs576129553
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NM_005219.5(DIAPH1):c.2101C>T (p.Pro701Ser)
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rs576129553
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NM_005219.5(DIAPH1):c.2103C>A (p.Pro701=)
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NM_005219.5(DIAPH1):c.2106C>A (p.Pro702=)
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NM_005219.5(DIAPH1):c.2106C>T (p.Pro702=)
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NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser)
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rs201433617
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NM_005219.5(DIAPH1):c.2108C>A (p.Pro703Gln)
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NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg)
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rs762356974
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NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu)
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rs762356974
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NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs)
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rs771360300
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NM_005219.5(DIAPH1):c.211T>C (p.Ser71Pro)
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NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val)
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NM_005219.5(DIAPH1):c.2133A>G (p.Ala711=)
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rs2154596282
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NM_005219.5(DIAPH1):c.2144C>G (p.Pro715Arg)
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NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)
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NM_005219.5(DIAPH1):c.2147C>T (p.Pro716Leu)
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NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser)
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rs2099895535
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NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg)
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rs770966255
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NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His)
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rs373520931
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NM_005219.5(DIAPH1):c.2162C>G (p.Pro721Arg)
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NM_005219.5(DIAPH1):c.2167G>A (p.Gly723Ser)
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rs1219615963
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NM_005219.5(DIAPH1):c.2172T>C (p.Pro724=)
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NM_005219.5(DIAPH1):c.2175A>G (p.Gly725=)
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NM_005219.5(DIAPH1):c.2178C>T (p.Ile726=)
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NM_005219.5(DIAPH1):c.2182C>T (p.Pro728Ser)
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NM_005219.5(DIAPH1):c.2183C>T (p.Pro728Leu)
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rs2154596280
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NM_005219.5(DIAPH1):c.2186C>T (p.Pro729Leu)
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NM_005219.5(DIAPH1):c.2189C>T (p.Pro730Leu)
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rs2154596279
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NM_005219.5(DIAPH1):c.218C>T (p.Ala73Val)
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rs2154596692
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NM_005219.5(DIAPH1):c.2197C>T (p.Pro733Ser)
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NM_005219.5(DIAPH1):c.21C>G (p.Ser7Arg)
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NM_005219.5(DIAPH1):c.2208T>C (p.Pro736=)
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rs2154596274
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NM_005219.5(DIAPH1):c.2216C>T (p.Pro739Leu)
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NM_005219.5(DIAPH1):c.2217T>G (p.Pro739=)
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rs2099895526
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NM_005219.5(DIAPH1):c.221C>T (p.Ser74Leu)
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NM_005219.5(DIAPH1):c.2221C>T (p.Pro741Ser)
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NM_005219.5(DIAPH1):c.2222C>T (p.Pro741Leu)
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NM_005219.5(DIAPH1):c.2229C>G (p.Pro743=)
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rs1361779351
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NM_005219.5(DIAPH1):c.2233A>G (p.Met745Val)
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NM_005219.5(DIAPH1):c.2236G>T (p.Gly746Cys)
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rs1258812442
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NM_005219.5(DIAPH1):c.2237G>A (p.Gly746Asp)
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rs1267697203
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NM_005219.5(DIAPH1):c.2239A>G (p.Met747Val)
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rs750444590
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NM_005219.5(DIAPH1):c.2242C>A (p.Pro748Thr)
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rs760810515
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NM_005219.5(DIAPH1):c.2243C>T (p.Pro748Leu)
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NM_005219.5(DIAPH1):c.2255C>A (p.Pro752Gln)
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NM_005219.5(DIAPH1):c.2256A>T (p.Pro752=)
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rs1230613557
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NM_005219.5(DIAPH1):c.2263T>C (p.Phe755Leu)
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NM_005219.5(DIAPH1):c.2267G>C (p.Gly756Ala)
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rs1423322662
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NM_005219.5(DIAPH1):c.2274T>G (p.Pro758=)
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NM_005219.5(DIAPH1):c.2282C>T (p.Pro761Leu)
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rs1382690018
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NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val)
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NM_005219.5(DIAPH1):c.228G>A (p.Gly76=)
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NM_005219.5(DIAPH1):c.22C>T (p.Leu8=)
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rs371690742
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NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)
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NM_005219.5(DIAPH1):c.2306C>G (p.Pro769Arg)
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NM_005219.5(DIAPH1):c.2307del (p.Lys771fs)
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rs1562319896
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NM_005219.5(DIAPH1):c.2309A>G (p.Lys770Arg)
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rs2154596262
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NM_005219.5(DIAPH1):c.2312A>C (p.Lys771Thr)
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NM_005219.5(DIAPH1):c.2329G>T (p.Val777Leu)
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NM_005219.5(DIAPH1):c.2330T>C (p.Val777Ala)
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rs2154596261
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NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)
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rs730882242
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NM_005219.5(DIAPH1):c.2333A>C (p.Gln778Pro)
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NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg)
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rs369255077
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NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=)
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rs757635140
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NM_005219.5(DIAPH1):c.233A>G (p.Asp78Gly)
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NM_005219.5(DIAPH1):c.2347A>G (p.Asn783Asp)
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rs778373397
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NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)
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NM_005219.5(DIAPH1):c.2358+13_2358+16del
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NM_005219.5(DIAPH1):c.2358+20_2358+23del
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NM_005219.5(DIAPH1):c.2358+7G>C
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rs2154596259
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NM_005219.5(DIAPH1):c.2359-13C>T
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NM_005219.5(DIAPH1):c.2359-14G>A
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NM_005219.5(DIAPH1):c.2359-14G>T
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NM_005219.5(DIAPH1):c.2359-16C>T
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rs2154596206
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NM_005219.5(DIAPH1):c.2359-18C>G
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rs779689345
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NM_005219.5(DIAPH1):c.2359-20del
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rs2154596207
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NM_005219.5(DIAPH1):c.2359-5C>G
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NM_005219.5(DIAPH1):c.2359-9T>A
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rs2154596205
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NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr)
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rs1596376794
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NM_005219.5(DIAPH1):c.2365G>T (p.Ala789Ser)
|
rs1596376794
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NM_005219.5(DIAPH1):c.2367T>G (p.Ala789=)
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NM_005219.5(DIAPH1):c.2369A>T (p.Glu790Val)
|
rs375471795
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NM_005219.5(DIAPH1):c.2370G>A (p.Glu790=)
|
rs2099895259
|
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NM_005219.5(DIAPH1):c.2370G>T (p.Glu790Asp)
|
rs2099895259
|
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NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=)
|
rs756608855
|
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NM_005219.5(DIAPH1):c.2374C>A (p.Leu792Ile)
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NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu)
|
rs1371798081
|
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NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn)
|
rs2099895253
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NM_005219.5(DIAPH1):c.2426A>G (p.Asn809Ser)
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NM_005219.5(DIAPH1):c.242C>A (p.Ala81Glu)
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NM_005219.5(DIAPH1):c.2433T>G (p.Leu811=)
|
rs2154596203
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NM_005219.5(DIAPH1):c.2439C>T (p.Ala813=)
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NM_005219.5(DIAPH1):c.243A>C (p.Ala81=)
|
rs2154596691
|
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NM_005219.5(DIAPH1):c.2447C>A (p.Thr816Asn)
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NM_005219.5(DIAPH1):c.2448C>G (p.Thr816=)
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NM_005219.5(DIAPH1):c.2454C>T (p.Thr818=)
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NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser)
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NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe)
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NM_005219.5(DIAPH1):c.2460T>G (p.Ser820=)
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NM_005219.5(DIAPH1):c.2461G>A (p.Ala821Thr)
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NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)
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NM_005219.5(DIAPH1):c.2469C>T (p.Thr823=)
|
rs763532123
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NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu)
|
rs2154596200
|
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NM_005219.5(DIAPH1):c.2473+18T>C
|
rs781448970
|
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NM_005219.5(DIAPH1):c.2473+3G>A
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NM_005219.5(DIAPH1):c.2473+3G>C
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NM_005219.5(DIAPH1):c.2474-16C>T
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NM_005219.5(DIAPH1):c.2474-20C>T
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NM_005219.5(DIAPH1):c.2480A>C (p.Lys827Thr)
|
rs2154596192
|
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NM_005219.5(DIAPH1):c.2482+10C>T
|
rs2154596191
|
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NM_005219.5(DIAPH1):c.2482+17G>A
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NM_005219.5(DIAPH1):c.2482+19C>T
|
rs2099895163
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NM_005219.5(DIAPH1):c.2482+4A>G
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NM_005219.5(DIAPH1):c.2483-10del
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NM_005219.5(DIAPH1):c.2483-14C>A
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NM_005219.5(DIAPH1):c.2483-17A>G
|
rs1428058088
|
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NM_005219.5(DIAPH1):c.2483-9C>G
|
rs1183855995
|
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|
NM_005219.5(DIAPH1):c.2487G>A (p.Lys829=)
|
rs2154595134
|
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|
NM_005219.5(DIAPH1):c.2488A>G (p.Lys830Glu)
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NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)
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NM_005219.5(DIAPH1):c.2493T>G (p.Asp831Glu)
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NM_005219.5(DIAPH1):c.2495A>G (p.Gln832Arg)
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|
NM_005219.5(DIAPH1):c.2502T>C (p.Gly834=)
|
rs2099888712
|
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NM_005219.5(DIAPH1):c.2507A>G (p.Glu836Gly)
|
|
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|
NM_005219.5(DIAPH1):c.2511A>G (p.Glu837=)
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NM_005219.5(DIAPH1):c.2514G>T (p.Lys838Asn)
|
rs761209182
|
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|
NM_005219.5(DIAPH1):c.252G>A (p.Leu84=)
|
rs2099897661
|
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|
NM_005219.5(DIAPH1):c.253C>A (p.Gln85Lys)
|
rs2154596689
|
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NM_005219.5(DIAPH1):c.253C>G (p.Gln85Glu)
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|
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)
|
rs2099888710
|
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|
NM_005219.5(DIAPH1):c.2543A>G (p.Glu848Gly)
|
|
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|
NM_005219.5(DIAPH1):c.2552T>C (p.Val851Ala)
|
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|
NM_005219.5(DIAPH1):c.2554T>C (p.Leu852=)
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NM_005219.5(DIAPH1):c.255A>G (p.Gln85=)
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NM_005219.5(DIAPH1):c.2560T>G (p.Ser854Ala)
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|
NM_005219.5(DIAPH1):c.256G>C (p.Asp86His)
|
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NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys)
|
rs2099888705
|
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|
NM_005219.5(DIAPH1):c.2581+12T>C
|
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NM_005219.5(DIAPH1):c.2582-11T>C
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NM_005219.5(DIAPH1):c.2582-18T>C
|
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NM_005219.5(DIAPH1):c.2582-7C>T
|
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|
NM_005219.5(DIAPH1):c.2584A>G (p.Ile862Val)
|
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NM_005219.5(DIAPH1):c.2585T>C (p.Ile862Thr)
|
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|
NM_005219.5(DIAPH1):c.258T>C (p.Asp86=)
|
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|
NM_005219.5(DIAPH1):c.2597C>A (p.Ser866Tyr)
|
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|
NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe)
|
rs150113164
|
|
|
NM_005219.5(DIAPH1):c.2600T>A (p.Phe867Tyr)
|
|
|
|
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys)
|
rs1554201531
|
|
|
NM_005219.5(DIAPH1):c.2604C>T (p.Arg868=)
|
|
|
|
NM_005219.5(DIAPH1):c.2605A>C (p.Met869Leu)
|
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NM_005219.5(DIAPH1):c.2605A>G (p.Met869Val)
|
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NM_005219.5(DIAPH1):c.2606T>C (p.Met869Thr)
|
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|
NM_005219.5(DIAPH1):c.2608C>A (p.Pro870Thr)
|
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|
NM_005219.5(DIAPH1):c.2609C>T (p.Pro870Leu)
|
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|
NM_005219.5(DIAPH1):c.2612A>T (p.Tyr871Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.2627A>C (p.Asn876Thr)
|
rs1596340326
|
|
|
NM_005219.5(DIAPH1):c.2640G>A (p.Glu880=)
|
rs2099887901
|
|
|
NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile)
|
rs750058263
|
|
|
NM_005219.5(DIAPH1):c.2649G>A (p.Glu883=)
|
rs2154595020
|
|
|
NM_005219.5(DIAPH1):c.2650G>A (p.Ala884Thr)
|
rs1214856083
|
|
|
NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.2676+12G>C
|
|
|
|
NM_005219.5(DIAPH1):c.2676+13G>T
|
|
|
|
NM_005219.5(DIAPH1):c.2676+2T>G
|
|
|
|
NM_005219.5(DIAPH1):c.2676+8G>A
|
rs2154595019
|
|
|
NM_005219.5(DIAPH1):c.2677-11C>G
|
|
|
|
NM_005219.5(DIAPH1):c.2677-9_2677-6del
|
rs2154595017
|
|
|
NM_005219.5(DIAPH1):c.2680C>T (p.Leu894Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.2682C>T (p.Leu894=)
|
|
|
|
NM_005219.5(DIAPH1):c.2694G>A (p.Met898Ile)
|
rs562824586
|
|
|
NM_005219.5(DIAPH1):c.2698G>C (p.Glu900Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.2701C>G (p.Pro901Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.2705A>G (p.Glu902Gly)
|
|
|
|
NM_005219.5(DIAPH1):c.2733G>A (p.Lys911=)
|
|
|
|
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn)
|
rs767712795
|
|
|
NM_005219.5(DIAPH1):c.2746G>A (p.Asp916Asn)
|
|
|
|
NM_005219.5(DIAPH1):c.2751G>T (p.Leu917=)
|
|
|
|
NM_005219.5(DIAPH1):c.2757G>A (p.Glu919=)
|
|
|
|
NM_005219.5(DIAPH1):c.2758T>G (p.Ser920Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.2771G>T (p.Gly924Val)
|
|
|
|
NM_005219.5(DIAPH1):c.2778+2dup
|
|
|
|
NM_005219.5(DIAPH1):c.2779-11T>C
|
|
|
|
NM_005219.5(DIAPH1):c.2779-14G>A
|
|
|
|
NM_005219.5(DIAPH1):c.2779-20C>T
|
rs2099887801
|
|
|
NM_005219.5(DIAPH1):c.2779-6T>C
|
|
|
|
NM_005219.5(DIAPH1):c.2779-6del
|
rs1431116673
|
|
|
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val)
|
rs1277130012
|
|
|
NM_005219.5(DIAPH1):c.2780T>C (p.Met927Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.2795G>A (p.Arg932Gln)
|
rs370578225
|
|
|
NM_005219.5(DIAPH1):c.2799G>A (p.Leu933=)
|
|
|
|
NM_005219.5(DIAPH1):c.279G>A (p.Leu93=)
|
|
|
|
NM_005219.5(DIAPH1):c.27G>A (p.Gly9=)
|
rs757885737
|
|
|
NM_005219.5(DIAPH1):c.2807G>A (p.Arg936His)
|
|
|
|
NM_005219.5(DIAPH1):c.2808C>A (p.Arg936=)
|
|
|
|
NM_005219.5(DIAPH1):c.2809C>T (p.Leu937Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.2811C>G (p.Leu937=)
|
rs900280842
|
|
|
NM_005219.5(DIAPH1):c.2813A>T (p.Asn938Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.2818A>G (p.Ile940Val)
|
rs2099887788
|
|
|
NM_005219.5(DIAPH1):c.2842G>A (p.Glu948Lys)
|
|
|
|
NM_005219.5(DIAPH1):c.2846A>T (p.Gln949Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.2861A>G (p.Lys954Arg)
|
rs2154595007
|
|
|
NM_005219.5(DIAPH1):c.2877T>G (p.Ser959=)
|
rs1554201404
|
|
|
NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile)
|
rs2099887778
|
|
|
NM_005219.5(DIAPH1):c.2880C>T (p.Val960=)
|
|
|
|
NM_005219.5(DIAPH1):c.2893_2894inv (p.Glu965Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.2915G>A (p.Ser972Asn)
|
|
|
|
NM_005219.5(DIAPH1):c.2921C>G (p.Ser974Cys)
|
rs2154595004
|
|
|
NM_005219.5(DIAPH1):c.2926C>T (p.Leu976Phe)
|
rs2154595003
|
|
|
NM_005219.5(DIAPH1):c.2928C>G (p.Leu976=)
|
|
|
|
NM_005219.5(DIAPH1):c.2931A>G (p.Leu977=)
|
rs2154595002
|
|
|
NM_005219.5(DIAPH1):c.2939C>T (p.Thr980Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.2940C>G (p.Thr980=)
|
|
|
|
NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val)
|
|
|
|
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)
|
rs1596339533
|
|
|
NM_005219.5(DIAPH1):c.2949T>A (p.Val983=)
|
|
|
|
NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.2967T>C (p.Ala989=)
|
|
|
|
NM_005219.5(DIAPH1):c.2974A>G (p.Arg992Gly)
|
rs2154595000
|
|
|
NM_005219.5(DIAPH1):c.2978A>G (p.Asn993Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.2984G>C (p.Gly995Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.2985T>C (p.Gly995=)
|
|
|
|
NM_005219.5(DIAPH1):c.2988T>A (p.Ala996=)
|
rs2154594999
|
|
|
NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg)
|
rs750068600
|
|
|
NM_005219.5(DIAPH1):c.300+13T>C
|
|
|
|
NM_005219.5(DIAPH1):c.300+16C>T
|
|
|
|
NM_005219.5(DIAPH1):c.300+17C>G
|
|
|
|
NM_005219.5(DIAPH1):c.300+19A>G
|
|
|
|
NM_005219.5(DIAPH1):c.3001A>G (p.Ile1001Val)
|
|
|
|
NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met)
|
rs1554201371
|
|
|
NM_005219.5(DIAPH1):c.300G>C (p.Leu100=)
|
rs547319575
|
|
|
NM_005219.5(DIAPH1):c.301-11C>T
|
|
|
|
NM_005219.5(DIAPH1):c.301-13C>T
|
|
|
|
NM_005219.5(DIAPH1):c.301-15_301-14del
|
|
|
|
NM_005219.5(DIAPH1):c.301-4C>T
|
rs767789914
|
|
|
NM_005219.5(DIAPH1):c.301-6T>C
|
|
|
|
NM_005219.5(DIAPH1):c.3015T>C (p.Cys1005=)
|
|
|
|
NM_005219.5(DIAPH1):c.3017A>G (p.Lys1006Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.3018+11G>T
|
|
|
|
NM_005219.5(DIAPH1):c.3018+3G>A
|
rs2154594998
|
|
|
NM_005219.5(DIAPH1):c.3018+6C>T
|
rs2154594997
|
|
|
NM_005219.5(DIAPH1):c.3019-11C>T
|
|
|
|
NM_005219.5(DIAPH1):c.3019-11_3019-10del
|
|
|
|
NM_005219.5(DIAPH1):c.3019-17del
|
rs2154594993
|
|
|
NM_005219.5(DIAPH1):c.3030C>G (p.Thr1010=)
|
rs1326319400
|
|
|
NM_005219.5(DIAPH1):c.3032A>C (p.Lys1011Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.3037A>G (p.Thr1013Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.3048G>A (p.Lys1016=)
|
rs371366611
|
|
|
NM_005219.5(DIAPH1):c.3060A>G (p.Leu1020=)
|
rs2154594991
|
|
|
NM_005219.5(DIAPH1):c.3063C>T (p.His1021=)
|
|
|
|
NM_005219.5(DIAPH1):c.3067T>C (p.Leu1023=)
|
|
|
|
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)
|
|
|
|
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val)
|
rs2099897198
|
|
|
NM_005219.5(DIAPH1):c.3081T>C (p.Cys1027=)
|
|
|
|
NM_005219.5(DIAPH1):c.3084G>A (p.Glu1028=)
|
|
|
|
NM_005219.5(DIAPH1):c.308T>C (p.Met103Thr)
|
rs2154596616
|
|
|
NM_005219.5(DIAPH1):c.3094C>A (p.Pro1032Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.3099T>A (p.Asp1033Glu)
|
|
|
|
NM_005219.5(DIAPH1):c.30C>T (p.Pro10=)
|
|
|
|
NM_005219.5(DIAPH1):c.3105C>T (p.Leu1035=)
|
|
|
|
NM_005219.5(DIAPH1):c.3107A>C (p.Lys1036Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.3111T>G (p.Phe1037Leu)
|
rs376328260
|
|
|
NM_005219.5(DIAPH1):c.3112C>G (p.Pro1038Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.3118G>A (p.Glu1040Lys)
|
|
|
|
NM_005219.5(DIAPH1):c.3126C>T (p.Ala1042=)
|
rs899924262
|
|
|
NM_005219.5(DIAPH1):c.3127C>T (p.His1043Tyr)
|
|
|
|
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu)
|
rs2099887715
|
|
|
NM_005219.5(DIAPH1):c.3132G>C (p.Val1044=)
|
rs748218553
|
|
|
NM_005219.5(DIAPH1):c.3138A>G (p.Lys1046=)
|
|
|
|
NM_005219.5(DIAPH1):c.3140C>T (p.Ala1047Val)
|
|
|
|
NM_005219.5(DIAPH1):c.3145C>A (p.Arg1049=)
|
rs863225243
|
|
|
NM_005219.5(DIAPH1):c.3146G>A (p.Arg1049Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.3148+16del
|
rs1562284112
|
|
|
NM_005219.5(DIAPH1):c.3148+17T>A
|
|
|
|
NM_005219.5(DIAPH1):c.3148+17T>C
|
|
|
|
NM_005219.5(DIAPH1):c.3148+20A>G
|
|
|
|
NM_005219.5(DIAPH1):c.3148+6G>A
|
|
|
|
NM_005219.5(DIAPH1):c.3149-13_3149-3del
|
|
|
|
NM_005219.5(DIAPH1):c.3149-15_3149-14insG
|
|
|
|
NM_005219.5(DIAPH1):c.3149-15_3149-3dup
|
|
|
|
NM_005219.5(DIAPH1):c.3149-16T>G
|
|
|
|
NM_005219.5(DIAPH1):c.3149-18T>G
|
|
|
|
NM_005219.5(DIAPH1):c.3149-25_3149-15dup
|
rs79558427
|
|
|
NM_005219.5(DIAPH1):c.3149-25dup
|
rs79558427
|
|
|
NM_005219.5(DIAPH1):c.3149-3T>A
|
|
|
|
NM_005219.5(DIAPH1):c.3149-3del
|
rs79558427
|
|
|
NM_005219.5(DIAPH1):c.3149-7_3149-6insG
|
rs2154594982
|
|
|
NM_005219.5(DIAPH1):c.3149-8_3149-7insC
|
|
|
|
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe)
|
rs868531732
|
|
|
NM_005219.5(DIAPH1):c.3156T>C (p.Ala1052=)
|
|
|
|
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys)
|
rs1003389476
|
|
|
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter)
|
rs1003389476
|
|
|
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys)
|
rs1409823509
|
|
|
NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter)
|
rs1331356644
|
|
|
NM_005219.5(DIAPH1):c.3167A>C (p.Gln1056Pro)
|
rs2154594980
|
|
|
NM_005219.5(DIAPH1):c.3168A>G (p.Gln1056=)
|
|
|
|
NM_005219.5(DIAPH1):c.3172A>T (p.Asn1058Tyr)
|
rs2154594979
|
|
|
NM_005219.5(DIAPH1):c.3179A>G (p.Asp1060Gly)
|
rs1162981056
|
|
|
NM_005219.5(DIAPH1):c.317A>G (p.Asn106Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.3182A>C (p.Gln1061Pro)
|
|
|
|
NM_005219.5(DIAPH1):c.3182A>G (p.Gln1061Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.3183G>C (p.Gln1061His)
|
|
|
|
NM_005219.5(DIAPH1):c.3192A>G (p.Lys1064=)
|
|
|
|
NM_005219.5(DIAPH1):c.3203A>T (p.Asp1068Val)
|
|
|
|
NM_005219.5(DIAPH1):c.3206_3207insTTC (p.Val1069_Glu1070insSer)
|
rs1450758628
|
|
|
NM_005219.5(DIAPH1):c.3211C>T (p.Arg1071Cys)
|
|
|
|
NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs)
|
|
|
|
NM_005219.5(DIAPH1):c.3217G>A (p.Val1073Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.3217_3219dup (p.Val1073dup)
|
rs2099887571
|
|
|
NM_005219.5(DIAPH1):c.3220C>G (p.Gln1074Glu)
|
rs1012562287
|
|
|
NM_005219.5(DIAPH1):c.3223A>C (p.Asn1075His)
|
|
|
|
NM_005219.5(DIAPH1):c.3231A>C (p.Pro1077=)
|
|
|
|
NM_005219.5(DIAPH1):c.3231A>G (p.Pro1077=)
|
|
|
|
NM_005219.5(DIAPH1):c.3233C>T (p.Ala1078Val)
|
|
|
|
NM_005219.5(DIAPH1):c.3247A>G (p.Lys1083Glu)
|
|
|
|
NM_005219.5(DIAPH1):c.3252C>G (p.Asp1084Glu)
|
|
|
|
NM_005219.5(DIAPH1):c.3254A>G (p.Lys1085Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)
|
rs1235751512
|
|
|
NM_005219.5(DIAPH1):c.3273+11T>C
|
rs2154594977
|
|
|
NM_005219.5(DIAPH1):c.3273+11T>G
|
rs2154594977
|
|
|
NM_005219.5(DIAPH1):c.3273+19A>T
|
|
|
|
NM_005219.5(DIAPH1):c.3273+5C>T
|
|
|
|
NM_005219.5(DIAPH1):c.3273+8C>T
|
|
|
|
NM_005219.5(DIAPH1):c.3274-10T>G
|
rs2099887339
|
|
|
NM_005219.5(DIAPH1):c.3274-18T>C
|
|
|
|
NM_005219.5(DIAPH1):c.3274-23_3274-18dup
|
|
|
|
NM_005219.5(DIAPH1):c.3274-37TTGGTC[2]
|
|
|
|
NM_005219.5(DIAPH1):c.3274-37TTGGTC[4]
|
rs761110996
|
|
|
NM_005219.5(DIAPH1):c.3274-5T>C
|
rs748520819
|
|
|
NM_005219.5(DIAPH1):c.3274-7G>A
|
|
|
|
NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys)
|
rs2099887333
|
|
|
NM_005219.5(DIAPH1):c.3293A>T (p.Gln1098Leu)
|
rs997606547
|
|
|
NM_005219.5(DIAPH1):c.3297A>G (p.Glu1099=)
|
|
|
|
NM_005219.5(DIAPH1):c.3304A>G (p.Asn1102Asp)
|
|
|
|
NM_005219.5(DIAPH1):c.3306C>G (p.Asn1102Lys)
|
|
|
|
NM_005219.5(DIAPH1):c.3308A>G (p.Lys1103Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile)
|
rs1596337513
|
|
|
NM_005219.5(DIAPH1):c.3321G>C (p.Met1107Ile)
|
|
|
|
NM_005219.5(DIAPH1):c.3330C>T (p.Asn1110=)
|
rs2154594957
|
|
|
NM_005219.5(DIAPH1):c.3331A>T (p.Met1111Leu)
|
rs371161306
|
|
|
NM_005219.5(DIAPH1):c.3332T>C (p.Met1111Thr)
|
rs893998939
|
|
|
NM_005219.5(DIAPH1):c.3336G>C (p.Glu1112Asp)
|
rs2154594956
|
|
|
NM_005219.5(DIAPH1):c.3339C>T (p.Thr1113=)
|
|
|
|
NM_005219.5(DIAPH1):c.3351G>A (p.Glu1117=)
|
|
|
|
NM_005219.5(DIAPH1):c.3354G>A (p.Leu1118=)
|
|
|
|
NM_005219.5(DIAPH1):c.3357C>A (p.Gly1119=)
|
rs1267459292
|
|
|
NM_005219.5(DIAPH1):c.3369C>T (p.Leu1123=)
|
|
|
|
NM_005219.5(DIAPH1):c.3374A>T (p.Asp1125Val)
|
rs1490710264
|
|
|
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu)
|
rs1554200929
|
|
|
NM_005219.5(DIAPH1):c.3409G>T (p.Asp1137Tyr)
|
|
|
|
NM_005219.5(DIAPH1):c.3414_3415delinsAA (p.His1139Asn)
|
|
|
|
NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp)
|
rs1353583066
|
|
|
NM_005219.5(DIAPH1):c.3430A>G (p.Met1144Val)
|
rs2154594954
|
|
|
NM_005219.5(DIAPH1):c.3438+14A>G
|
|
|
|
NM_005219.5(DIAPH1):c.3438+18G>T
|
|
|
|
NM_005219.5(DIAPH1):c.3438+8dup
|
|
|
|
NM_005219.5(DIAPH1):c.3439C>G (p.Gln1147Glu)
|
|
|
|
NM_005219.5(DIAPH1):c.343G>C (p.Glu115Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.3463C>G (p.Arg1155Gly)
|
rs369467830
|
|
|
NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.3466C>T (p.Arg1156Trp)
|
|
|
|
NM_005219.5(DIAPH1):c.3467G>C (p.Arg1156Pro)
|
rs764296073
|
|
|
NM_005219.5(DIAPH1):c.3478G>C (p.Glu1160Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile)
|
rs747116749
|
|
|
NM_005219.5(DIAPH1):c.3486G>C (p.Met1162Ile)
|
rs747116749
|
|
|
NM_005219.5(DIAPH1):c.348G>A (p.Lys116=)
|
rs2154596614
|
|
|
NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.3492A>G (p.Arg1164=)
|
|
|
|
NM_005219.5(DIAPH1):c.3504C>T (p.Ala1168=)
|
|
|
|
NM_005219.5(DIAPH1):c.3507G>C (p.Lys1169Asn)
|
|
|
|
NM_005219.5(DIAPH1):c.350A>C (p.Asp117Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp)
|
rs763106782
|
|
|
NM_005219.5(DIAPH1):c.3528G>C (p.Arg1176=)
|
rs1008027878
|
|
|
NM_005219.5(DIAPH1):c.3529C>T (p.Leu1177=)
|
|
|
|
NM_005219.5(DIAPH1):c.352A>T (p.Ile118Phe)
|
rs769174848
|
|
|
NM_005219.5(DIAPH1):c.3538C>G (p.Gln1180Glu)
|
rs374304870
|
|
|
NM_005219.5(DIAPH1):c.3555A>C (p.Gln1185His)
|
|
|
|
NM_005219.5(DIAPH1):c.3559A>C (p.Ile1187Leu)
|
|
|
|
NM_005219.5(DIAPH1):c.3559A>G (p.Ile1187Val)
|
|
|
|
NM_005219.5(DIAPH1):c.3570T>C (p.Asn1190=)
|
rs1596337059
|
|
|
NM_005219.5(DIAPH1):c.3574+15C>A
|
|
|
|
NM_005219.5(DIAPH1):c.3574+15C>G
|
|
|
|
NM_005219.5(DIAPH1):c.3574+15C>T
|
|
|
|
NM_005219.5(DIAPH1):c.3574+18_3574+22del
|
|
|
|
NM_005219.5(DIAPH1):c.3574+5G>C
|
|
|
|
NM_005219.5(DIAPH1):c.3574+8G>A
|
|
|
|
NM_005219.5(DIAPH1):c.3575-13T>C
|
|
|
|
NM_005219.5(DIAPH1):c.3575-14G>A
|
|
|
|
NM_005219.5(DIAPH1):c.3575-6T>A
|
rs2154594919
|
|
|
NM_005219.5(DIAPH1):c.3575-9T>A
|
|
|
|
NM_005219.5(DIAPH1):c.3576G>A (p.Glu1192=)
|
|
|
|
NM_005219.5(DIAPH1):c.3589G>T (p.Gly1197Cys)
|
|
|
|
NM_005219.5(DIAPH1):c.358A>G (p.Ile120Val)
|
|
|
|
NM_005219.5(DIAPH1):c.3591T>A (p.Gly1197=)
|
|
|
|
NM_005219.5(DIAPH1):c.3594G>A (p.Val1198=)
|
|
|
|
NM_005219.5(DIAPH1):c.3600C>T (p.Asp1200=)
|
|
|
|
NM_005219.5(DIAPH1):c.3604C>G (p.Leu1202Val)
|
rs2154594918
|
|
|
NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs)
|
rs1064797096
|
|
|
NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val)
|
rs1263494333
|
|
|
NM_005219.5(DIAPH1):c.3633A>T (p.Ala1211=)
|
rs2154594917
|
|
|
NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)
|
rs876657776
|
|
|
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg)
|
rs2154594916
|
|
|
NM_005219.5(DIAPH1):c.3645G>A (p.Lys1215=)
|
|
|
|
NM_005219.5(DIAPH1):c.3651G>A (p.Gly1217=)
|
|
|
|
NM_005219.5(DIAPH1):c.3655dup (p.Arg1219fs)
|
|
|
|
NM_005219.5(DIAPH1):c.3659A>G (p.Gln1220Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.3660A>G (p.Gln1220=)
|
|
|
|
NM_005219.5(DIAPH1):c.3661+13A>G
|
|
|
|
NM_005219.5(DIAPH1):c.3661+14T>C
|
|
|
|
NM_005219.5(DIAPH1):c.3661+16G>A
|
rs2154594915
|
|
|
NM_005219.5(DIAPH1):c.3661+1G>T
|
rs1476157529
|
|
|
NM_005219.5(DIAPH1):c.3661G>A (p.Ala1221Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.3662-11T>G
|
rs1278697343
|
|
|
NM_005219.5(DIAPH1):c.3662-14G>C
|
|
|
|
NM_005219.5(DIAPH1):c.3662-15C>T
|
|
|
|
NM_005219.5(DIAPH1):c.3662-16T>C
|
|
|
|
NM_005219.5(DIAPH1):c.3662-19C>G
|
|
|
|
NM_005219.5(DIAPH1):c.3662-20T>G
|
|
|
|
NM_005219.5(DIAPH1):c.3662-3C>T
|
|
|
|
NM_005219.5(DIAPH1):c.3662-6T>C
|
rs2154594799
|
|
|
NM_005219.5(DIAPH1):c.3662-9C>G
|
|
|
|
NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.3678G>A (p.Gly1226=)
|
|
|
|
NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg)
|
rs1466328561
|
|
|
NM_005219.5(DIAPH1):c.3680G>A (p.Cys1227Tyr)
|
rs2154594798
|
|
|
NM_005219.5(DIAPH1):c.3689C>T (p.Thr1230Ile)
|
rs2099885782
|
|
|
NM_005219.5(DIAPH1):c.3690A>T (p.Thr1230=)
|
rs1596330582
|
|
|
NM_005219.5(DIAPH1):c.3693T>C (p.Ser1231=)
|
|
|
|
NM_005219.5(DIAPH1):c.3694C>G (p.Leu1232Val)
|
|
|
|
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)
|
|
|
|
NM_005219.5(DIAPH1):c.36C>T (p.Arg12=)
|
|
|
|
NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp)
|
rs761387295
|
|
|
NM_005219.5(DIAPH1):c.3706G>C (p.Glu1236Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.3709C>A (p.Leu1237Met)
|
|
|
|
NM_005219.5(DIAPH1):c.3711G>A (p.Leu1237=)
|
|
|
|
NM_005219.5(DIAPH1):c.3726C>G (p.Ala1242=)
|
rs1431294451
|
|
|
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val)
|
rs1554199642
|
|
|
NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe)
|
rs749871871
|
|
|
NM_005219.5(DIAPH1):c.3748G>A (p.Val1250Met)
|
rs1320235178
|
|
|
NM_005219.5(DIAPH1):c.3748G>C (p.Val1250Leu)
|
rs1320235178
|
|
|
NM_005219.5(DIAPH1):c.3750G>A (p.Val1250=)
|
|
|
|
NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly)
|
rs2099885774
|
|
|
NM_005219.5(DIAPH1):c.3772C>T (p.Pro1258Ser)
|
rs751282493
|
|
|
NM_005219.5(DIAPH1):c.3775A>G (p.Thr1259Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=)
|
rs1596330487
|
|
|
NM_005219.5(DIAPH1):c.3781C>T (p.Leu1261Phe)
|
rs2154594796
|
|
|
NM_005219.5(DIAPH1):c.3783T>C (p.Leu1261=)
|
rs1596330476
|
|
|
NM_005219.5(DIAPH1):c.3792C>T (p.Ala1264=)
|
rs2099885771
|
|
|
NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter)
|
rs2099885770
|
|
|
NM_005219.5(DIAPH1):c.3799T>C (p.Leu1267=)
|
|
|
|
NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu)
|
rs371664456
|
|
|
NM_005219.5(DIAPH1):c.380A>G (p.Gln127Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser)
|
rs1167599945
|
|
|
NM_005219.5(DIAPH1):c.3818A>C (p.Ter1273Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.3818A>G (p.Ter1273=)
|
|
|
|
NM_005219.5(DIAPH1):c.3818A>T (p.Ter1273Leu)
|
rs753432442
|
|
|
NM_005219.5(DIAPH1):c.381A>G (p.Gln127=)
|
|
|
|
NM_005219.5(DIAPH1):c.395C>A (p.Ser132Tyr)
|
|
|
|
NM_005219.5(DIAPH1):c.402+12del
|
rs555848272
|
|
|
NM_005219.5(DIAPH1):c.402+14_402+33del
|
rs777383591
|
|
|
NM_005219.5(DIAPH1):c.402+17G>C
|
|
|
|
NM_005219.5(DIAPH1):c.402+19A>G
|
|
|
|
NM_005219.5(DIAPH1):c.402+20C>T
|
|
|
|
NM_005219.5(DIAPH1):c.402+2T>C
|
rs2154596613
|
|
|
NM_005219.5(DIAPH1):c.402+5G>A
|
|
|
|
NM_005219.5(DIAPH1):c.403-11C>G
|
|
|
|
NM_005219.5(DIAPH1):c.403-11C>T
|
rs2154596608
|
|
|
NM_005219.5(DIAPH1):c.403-4C>G
|
|
|
|
NM_005219.5(DIAPH1):c.407T>C (p.Met136Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.411C>G (p.Ser137Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.413A>G (p.Gln138Arg)
|
rs1337954890
|
|
|
NM_005219.5(DIAPH1):c.423C>T (p.Ser141=)
|
|
|
|
NM_005219.5(DIAPH1):c.427A>G (p.Lys143Glu)
|
|
|
|
NM_005219.5(DIAPH1):c.428A>G (p.Lys143Arg)
|
|
|
|
NM_005219.5(DIAPH1):c.42C>G (p.Thr14=)
|
rs1311391984
|
|
|
NM_005219.5(DIAPH1):c.434C>A (p.Ala145Asp)
|
|
|
|
NM_005219.5(DIAPH1):c.437T>C (p.Met146Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.43C>T (p.Arg15Trp)
|
|
|
|
NM_005219.5(DIAPH1):c.440T>C (p.Met147Thr)
|
rs2154596607
|
|
|
NM_005219.5(DIAPH1):c.443A>G (p.Tyr148Cys)
|
|
|
|
NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln)
|
rs1596422064
|
|
|
NM_005219.5(DIAPH1):c.459G>T (p.Arg153Ser)
|
rs748655447
|
|
|
NM_005219.5(DIAPH1):c.467T>C (p.Leu156Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.468G>T (p.Leu156Phe)
|
rs1562330405
|
|
|
NM_005219.5(DIAPH1):c.469C>G (p.Arg157Gly)
|
|
|
|
NM_005219.5(DIAPH1):c.469C>T (p.Arg157Trp)
|
|
|
|
NM_005219.5(DIAPH1):c.477G>T (p.Met159Ile)
|
rs2154596604
|
|
|
NM_005219.5(DIAPH1):c.47A>G (p.Asp16Gly)
|
|
|
|
NM_005219.5(DIAPH1):c.482T>C (p.Leu161Pro)
|
|
|
|
NM_005219.5(DIAPH1):c.486C>G (p.Leu162=)
|
|
|
|
NM_005219.5(DIAPH1):c.486C>T (p.Leu162=)
|
|
|
|
NM_005219.5(DIAPH1):c.48C>G (p.Asp16Glu)
|
|
|
|
NM_005219.5(DIAPH1):c.49AAG[2] (p.Lys19del)
|
|
|
|
NM_005219.5(DIAPH1):c.501C>T (p.Ser167=)
|
|
|
|
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg)
|
rs2099903137
|
|
|
NM_005219.5(DIAPH1):c.533+18G>C
|
|
|
|
NM_005219.5(DIAPH1):c.534-11G>A
|
|
|
|
NM_005219.5(DIAPH1):c.534-14T>C
|
|
|
|
NM_005219.5(DIAPH1):c.534-17C>T
|
rs528857511
|
|
|
NM_005219.5(DIAPH1):c.534-8C>G
|
|
|
|
NM_005219.5(DIAPH1):c.534-9T>A
|
|
|
|
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met)
|
rs370495662
|
|
|
NM_005219.5(DIAPH1):c.543A>G (p.Gln181=)
|
|
|
|
NM_005219.5(DIAPH1):c.544A>G (p.Thr182Ala)
|
rs2099897043
|
|
|
NM_005219.5(DIAPH1):c.546A>G (p.Thr182=)
|
rs2154596591
|
|
|
NM_005219.5(DIAPH1):c.54G>A (p.Lys18=)
|
rs2154597566
|
|
|
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln)
|
rs1440102285
|
|
|
NM_005219.5(DIAPH1):c.574T>C (p.Leu192=)
|
rs1441409023
|
|
|
NM_005219.5(DIAPH1):c.58G>A (p.Gly20Ser)
|
|
|
|
NM_005219.5(DIAPH1):c.590G>A (p.Arg197Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.596A>G (p.His199Arg)
|
rs2154596588
|
|
|
NM_005219.5(DIAPH1):c.599A>T (p.Asp200Val)
|
|
|
|
NM_005219.5(DIAPH1):c.59_60delinsAA (p.Gly20Glu)
|
rs2154597565
|
|
|
NM_005219.5(DIAPH1):c.60C>G (p.Gly20=)
|
|
|
|
NM_005219.5(DIAPH1):c.614C>T (p.Thr205Ile)
|
rs1489026152
|
|
|
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr)
|
rs2099897035
|
|
|
NM_005219.5(DIAPH1):c.620+11C>A
|
|
|
|
NM_005219.5(DIAPH1):c.620+19T>C
|
|
|
|
NM_005219.5(DIAPH1):c.621-10C>T
|
|
|
|
NM_005219.5(DIAPH1):c.621-13C>A
|
|
|
|
NM_005219.5(DIAPH1):c.621-15G>T
|
|
|
|
NM_005219.5(DIAPH1):c.621-2A>G
|
rs2099896905
|
|
|
NM_005219.5(DIAPH1):c.621-3C>T
|
|
|
|
NM_005219.5(DIAPH1):c.621-9T>C
|
rs761138352
|
|
|
NM_005219.5(DIAPH1):c.625T>C (p.Tyr209His)
|
rs2154596563
|
|
|
NM_005219.5(DIAPH1):c.626dup (p.Tyr209Ter)
|
|
|
|
NM_005219.5(DIAPH1):c.62G>A (p.Arg21Gln)
|
|
|
|
NM_005219.5(DIAPH1):c.634C>T (p.Arg212Trp)
|
rs769781925
|
|
|
NM_005219.5(DIAPH1):c.646G>A (p.Glu216Lys)
|
|
|
|
NM_005219.5(DIAPH1):c.665A>G (p.Lys222Arg)
|
rs2099896902
|
|
|
NM_005219.5(DIAPH1):c.666A>G (p.Lys222=)
|
|
|
|
NM_005219.5(DIAPH1):c.669T>C (p.Ala223=)
|
|
|
|
NM_005219.5(DIAPH1):c.66C>G (p.Ser22Arg)
|
rs2099903133
|
|
|
NM_005219.5(DIAPH1):c.670T>C (p.Phe224Leu)
|
rs2154596559
|
|
|
NM_005219.5(DIAPH1):c.677A>G (p.Asn226Ser)
|
rs2099896900
|
|
|
NM_005219.5(DIAPH1):c.684+1G>A
|
|
|
|
NM_005219.5(DIAPH1):c.684+3G>A
|
|
|
|
NM_005219.5(DIAPH1):c.685-14C>G
|
|
|
|
NM_005219.5(DIAPH1):c.685-15T>C
|
|
|
|
NM_005219.5(DIAPH1):c.685-5A>T
|
|
|
|
NM_005219.5(DIAPH1):c.685-7C>T
|
|
|
|
NM_005219.5(DIAPH1):c.685-8_685-6del
|
rs773403319
|
|
|
NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala)
|
|
|
|
NM_005219.5(DIAPH1):c.68C>T (p.Pro23Leu)
|
|
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NM_005219.5(DIAPH1):c.693C>T (p.Ile231=)
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NM_005219.5(DIAPH1):c.699C>A (p.Thr233=)
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NM_005219.5(DIAPH1):c.69A>C (p.Pro23=)
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NM_005219.5(DIAPH1):c.6G>C (p.Glu2Asp)
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NM_005219.5(DIAPH1):c.701T>C (p.Met234Thr)
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NM_005219.5(DIAPH1):c.708G>A (p.Glu236=)
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NM_005219.5(DIAPH1):c.711A>G (p.Thr237=)
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rs2099896653
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NM_005219.5(DIAPH1):c.715G>A (p.Glu239Lys)
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NM_005219.5(DIAPH1):c.717A>G (p.Glu239=)
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NM_005219.5(DIAPH1):c.726A>C (p.Leu242=)
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rs1204190364
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NM_005219.5(DIAPH1):c.726A>G (p.Leu242=)
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NM_005219.5(DIAPH1):c.726A>T (p.Leu242=)
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NM_005219.5(DIAPH1):c.72T>A (p.Asp24Glu)
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rs1189716868
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NM_005219.5(DIAPH1):c.735C>T (p.Val245=)
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rs771150697
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NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly)
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NM_005219.5(DIAPH1):c.740C>G (p.Ala247Gly)
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NM_005219.5(DIAPH1):c.741C>G (p.Ala247=)
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NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr)
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NM_005219.5(DIAPH1):c.751G>A (p.Ala251Thr)
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rs2154596507
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NM_005219.5(DIAPH1):c.753T>A (p.Ala251=)
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NM_005219.5(DIAPH1):c.757C>G (p.Pro253Ala)
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NM_005219.5(DIAPH1):c.757C>T (p.Pro253Ser)
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NM_005219.5(DIAPH1):c.759C>T (p.Pro253=)
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rs2154596505
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NM_005219.5(DIAPH1):c.75G>C (p.Glu25Asp)
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NM_005219.5(DIAPH1):c.761A>G (p.Asn254Ser)
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NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr)
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rs1160650964
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NM_005219.5(DIAPH1):c.792T>C (p.Ser264=)
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NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)
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NM_005219.5(DIAPH1):c.810G>T (p.Pro270=)
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NM_005219.5(DIAPH1):c.824+15T>A
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NM_005219.5(DIAPH1):c.825-15C>G
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rs2154596466
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NM_005219.5(DIAPH1):c.825-16C>T
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rs777497826
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NM_005219.5(DIAPH1):c.825-18T>G
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NM_005219.5(DIAPH1):c.825-20G>A
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rs373532900
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NM_005219.5(DIAPH1):c.825-20G>C
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rs373532900
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NM_005219.5(DIAPH1):c.825-20G>T
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NM_005219.5(DIAPH1):c.825-3C>T
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rs2099896384
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NM_005219.5(DIAPH1):c.825-9C>T
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NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile)
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rs1562326443
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NM_005219.5(DIAPH1):c.839del (p.Leu280fs)
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NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp)
|
rs771016727
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NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val)
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NM_005219.5(DIAPH1):c.846A>G (p.Ala282=)
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NM_005219.5(DIAPH1):c.854A>T (p.Glu285Val)
|
rs1596384556
|
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NM_005219.5(DIAPH1):c.85G>T (p.Ala29Ser)
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NM_005219.5(DIAPH1):c.868G>T (p.Asp290Tyr)
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NM_005219.5(DIAPH1):c.86C>T (p.Ala29Val)
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NM_005219.5(DIAPH1):c.87G>A (p.Ala29=)
|
rs762960433
|
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NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys)
|
rs1034109754
|
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NM_005219.5(DIAPH1):c.890C>T (p.Pro297Leu)
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NM_005219.5(DIAPH1):c.892C>T (p.Leu298=)
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NM_005219.5(DIAPH1):c.895C>T (p.Leu299=)
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NM_005219.5(DIAPH1):c.89del (p.Gly30fs)
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NM_005219.5(DIAPH1):c.8C>T (p.Pro3Leu)
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NM_005219.5(DIAPH1):c.904T>C (p.Leu302=)
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NM_005219.5(DIAPH1):c.910dup (p.Ser304fs)
|
rs2154596461
|
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NM_005219.5(DIAPH1):c.915A>G (p.Gly305=)
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NM_005219.5(DIAPH1):c.918C>T (p.Thr306=)
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NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met)
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NM_005219.5(DIAPH1):c.927A>T (p.Ala309=)
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NM_005219.5(DIAPH1):c.933+16G>A
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NM_005219.5(DIAPH1):c.933+18A>G
|
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NM_005219.5(DIAPH1):c.933+20C>G
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NM_005219.5(DIAPH1):c.933+3A>G
|
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NM_005219.5(DIAPH1):c.933+5G>A
|
rs2099896370
|
|
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NM_005219.5(DIAPH1):c.933+7A>G
|
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NM_005219.5(DIAPH1):c.934-16A>C
|
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NM_005219.5(DIAPH1):c.934-3T>G
|
rs886060033
|
|
|
NM_005219.5(DIAPH1):c.934-6T>C
|
rs772759927
|
|
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NM_005219.5(DIAPH1):c.934-8T>G
|
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NM_005219.5(DIAPH1):c.939A>G (p.Gly313=)
|
rs930424079
|
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NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser)
|
rs2099896293
|
|
|
NM_005219.5(DIAPH1):c.961C>G (p.Leu321Val)
|
rs1214669823
|
|
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NM_005219.5(DIAPH1):c.96C>A (p.Asp32Glu)
|
rs1291832340
|
|
|
NM_005219.5(DIAPH1):c.96C>T (p.Asp32=)
|
|
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|
NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr)
|
rs1596384042
|
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NM_005219.5(DIAPH1):c.978G>A (p.Glu326=)
|
|
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|
NM_005219.5(DIAPH1):c.981A>G (p.Glu327=)
|
rs771490830
|
|
|
NM_005219.5(DIAPH1):c.988T>A (p.Phe330Ile)
|
rs2154596449
|
|
|
NM_005219.5(DIAPH1):c.990C>T (p.Phe330=)
|
rs1303310814
|
|
|
NM_005219.5(DIAPH1):c.994G>A (p.Val332Ile)
|
rs1339571940
|
|
|
NM_005219.5(DIAPH1):c.999C>T (p.His333=)
|
rs2099896284
|
|
|
NM_005219.5(DIAPH1):c.9G>C (p.Pro3=)
|
rs1277870477
|
|