NM_016356.5(DCDC2):c.1423G>A (p.Val475Met)
|
rs145154884
|
0.00062
|
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg)
|
rs201719002
|
0.00055
|
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.2224C>G (p.Pro742Ala)
|
rs199749212
|
0.00036
|
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr)
|
rs374299911
|
0.00033
|
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)
|
rs200172266
|
0.00032
|
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile)
|
rs142301715
|
0.00032
|
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met)
|
rs199790650
|
0.00022
|
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His)
|
rs199700840
|
0.00022
|
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met)
|
rs370078844
|
0.00021
|
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr)
|
rs144481204
|
0.00018
|
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys)
|
rs371994484
|
0.00017
|
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met)
|
rs368575199
|
0.00016
|
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu)
|
rs367981585
|
0.00016
|
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr)
|
rs183480366
|
0.00016
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly)
|
rs143962007
|
0.00014
|
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg)
|
rs775424355
|
0.00014
|
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg)
|
rs376593325
|
0.00013
|
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)
|
rs375307187
|
0.00011
|
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile)
|
rs368889655
|
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_016356.5(DCDC2):c.785C>T (p.Thr262Ile)
|
rs200534758
|
0.00011
|
NM_005219.5(DIAPH1):c.3574+6G>C
|
rs538555634
|
0.00010
|
NM_016356.5(DCDC2):c.770G>A (p.Arg257His)
|
rs200233521
|
0.00010
|
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly)
|
rs141752846
|
0.00009
|
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys)
|
rs750028854
|
0.00009
|
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu)
|
rs750318437
|
0.00009
|
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile)
|
rs373275414
|
0.00009
|
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys)
|
rs372531999
|
0.00008
|
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_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn)
|
rs267607103
|
0.00007
|
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val)
|
rs752510907
|
0.00007
|
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys)
|
rs777195456
|
0.00007
|
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)
|
rs780320724
|
0.00006
|
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu)
|
rs200480676
|
0.00006
|
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met)
|
rs371031447
|
0.00006
|
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr)
|
rs774586263
|
0.00006
|
NM_001199107.2(TBC1D24):c.1525+6C>T
|
rs758013935
|
0.00006
|
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met)
|
rs537705878
|
0.00006
|
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln)
|
rs200004048
|
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.80C>T (p.Pro27Leu)
|
rs774909066
|
0.00006
|
NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser)
|
rs1056029060
|
0.00006
|
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu)
|
rs779920318
|
0.00005
|
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met)
|
rs772768393
|
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.2668A>G (p.Met890Val)
|
rs200251893
|
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.922A>G (p.Ile308Val)
|
rs752555506
|
0.00005
|
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile)
|
rs781510673
|
0.00005
|
NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe)
|
rs200595563
|
0.00005
|
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln)
|
rs771412904
|
0.00004
|
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys)
|
rs368678094
|
0.00004
|
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr)
|
rs773304369
|
0.00004
|
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr)
|
rs367710709
|
0.00004
|
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys)
|
rs767145914
|
0.00004
|
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys)
|
rs760121083
|
0.00004
|
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys)
|
rs375860324
|
0.00004
|
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His)
|
rs545689324
|
0.00004
|
NM_005219.5(DIAPH1):c.1915A>C (p.Ile639Leu)
|
rs781398463
|
0.00004
|
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg)
|
rs374788809
|
0.00004
|
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu)
|
rs762969077
|
0.00004
|
NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His)
|
rs752824698
|
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.3175C>G (p.Leu1059Val)
|
rs200394036
|
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.818A>G (p.Glu273Gly)
|
rs756921782
|
0.00004
|
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His)
|
rs771591530
|
0.00004
|
NM_016356.5(DCDC2):c.1237G>A (p.Gly413Ser)
|
rs771499861
|
0.00004
|
NM_001110219.3(GJB6):c.228del (p.Trp77fs)
|
rs751484173
|
0.00003
|
NM_001199107.2(TBC1D24):c.1010C>T (p.Ala337Val)
|
rs1192131861
|
0.00003
|
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys)
|
rs1406095259
|
0.00003
|
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His)
|
rs754727069
|
0.00003
|
NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu)
|
rs1159971280
|
0.00003
|
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr)
|
rs1475264921
|
0.00003
|
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr)
|
rs368150932
|
0.00003
|
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu)
|
rs773916549
|
0.00003
|
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His)
|
rs556865791
|
0.00003
|
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu)
|
rs758697406
|
0.00003
|
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys)
|
rs769751880
|
0.00003
|
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn)
|
rs767925237
|
0.00003
|
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg)
|
rs751753013
|
0.00003
|
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val)
|
rs773874436
|
0.00003
|
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu)
|
rs751738454
|
0.00003
|
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys)
|
rs372337277
|
0.00003
|
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys)
|
rs886051845
|
0.00003
|
NM_001199107.2(TBC1D24):c.731C>T (p.Ala244Val)
|
rs375873110
|
0.00003
|
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln)
|
rs779398267
|
0.00003
|
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met)
|
rs370233833
|
0.00003
|
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.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.234T>G (p.Asp78Glu)
|
rs1292590118
|
0.00003
|
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe)
|
rs532205362
|
0.00003
|
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile)
|
rs745960805
|
0.00003
|
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr)
|
rs749063652
|
0.00003
|
NM_005219.5(DIAPH1):c.560G>C (p.Gly187Ala)
|
rs376465188
|
0.00003
|
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn)
|
rs749058990
|
0.00003
|
NM_005982.4(SIX1):c.191G>A (p.Arg64His)
|
rs1051653507
|
0.00003
|
NM_016356.5(DCDC2):c.1100C>T (p.Ser367Leu)
|
rs757670255
|
0.00003
|
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys)
|
rs909339162
|
0.00003
|
NM_001110219.3(GJB6):c.109G>A (p.Val37Met)
|
rs761985641
|
0.00002
|
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg)
|
rs760079142
|
0.00002
|
NM_001110219.3(GJB6):c.619G>A (p.Val207Met)
|
rs146231737
|
0.00002
|
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala)
|
rs188124777
|
0.00002
|
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys)
|
rs375571181
|
0.00002
|
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr)
|
rs745535369
|
0.00002
|
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe)
|
rs1249590916
|
0.00002
|
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg)
|
rs749994791
|
0.00002
|
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn)
|
rs757236821
|
0.00002
|
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter)
|
rs1253505916
|
0.00002
|
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met)
|
rs371245371
|
0.00002
|
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn)
|
rs979223146
|
0.00002
|
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu)
|
rs1376844321
|
0.00002
|
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met)
|
rs200263150
|
0.00002
|
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser)
|
rs772054145
|
0.00002
|
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val)
|
rs750266156
|
0.00002
|
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile)
|
rs1355375251
|
0.00002
|
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met)
|
rs762660491
|
0.00002
|
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val)
|
rs753105655
|
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.2764C>A (p.Gln922Lys)
|
rs766891698
|
0.00002
|
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His)
|
rs373654027
|
0.00002
|
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn)
|
rs1303934222
|
0.00002
|
NM_005219.5(DIAPH1):c.3212G>A (p.Arg1071His)
|
rs538492176
|
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.3701C>T (p.Ala1234Val)
|
rs764739820
|
0.00002
|
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr)
|
rs532196989
|
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+6T>C
|
rs948017991
|
0.00002
|
NM_016356.5(DCDC2):c.1071C>A (p.Asn357Lys)
|
rs746347880
|
0.00002
|
NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu)
|
rs773020868
|
0.00002
|
NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala)
|
rs1043649931
|
0.00002
|
NM_001110219.3(GJB6):c.458T>C (p.Val153Ala)
|
rs779119807
|
0.00001
|
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly)
|
rs779119807
|
0.00001
|
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)
|
rs751440971
|
0.00001
|
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg)
|
rs752343828
|
0.00001
|
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln)
|
rs766604251
|
0.00001
|
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile)
|
rs889668249
|
0.00001
|
NM_001199107.2(TBC1D24):c.1033G>A (p.Val345Ile)
|
rs777515811
|
0.00001
|
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln)
|
rs762442022
|
0.00001
|
NM_001199107.2(TBC1D24):c.1142+6A>T
|
rs778930581
|
0.00001
|
NM_001199107.2(TBC1D24):c.1166A>G (p.His389Arg)
|
rs528162903
|
0.00001
|
NM_001199107.2(TBC1D24):c.1206+6C>T
|
rs974544530
|
0.00001
|
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser)
|
rs776176742
|
0.00001
|
NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg)
|
rs863224932
|
0.00001
|
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys)
|
rs775497984
|
0.00001
|
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr)
|
rs201911646
|
0.00001
|
NM_001199107.2(TBC1D24):c.1399C>A (p.Leu467Ile)
|
rs951307443
|
0.00001
|
NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg)
|
rs772570554
|
0.00001
|
NM_001199107.2(TBC1D24):c.1433G>A (p.Arg478His)
|
rs1596972871
|
0.00001
|
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu)
|
rs761844771
|
0.00001
|
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His)
|
rs796053405
|
0.00001
|
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr)
|
rs758665573
|
0.00001
|
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile)
|
rs1403522004
|
0.00001
|
NM_001199107.2(TBC1D24):c.1513T>G (p.Cys505Gly)
|
rs761300077
|
0.00001
|
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp)
|
rs886051844
|
0.00001
|
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=)
|
rs1333624924
|
0.00001
|
NM_001199107.2(TBC1D24):c.1526-3C>T
|
rs752385354
|
0.00001
|
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln)
|
rs780286465
|
0.00001
|
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=)
|
rs749232409
|
0.00001
|
NM_001199107.2(TBC1D24):c.1537G>A (p.Gly513Ser)
|
rs779026472
|
0.00001
|
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln)
|
rs758997013
|
0.00001
|
NM_001199107.2(TBC1D24):c.1676A>G (p.Gln559Arg)
|
rs1427285339
|
0.00001
|
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg)
|
rs866586869
|
0.00001
|
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr)
|
rs756581138
|
0.00001
|
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met)
|
rs776539630
|
0.00001
|
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu)
|
rs543224888
|
0.00001
|
NM_001199107.2(TBC1D24):c.280G>A (p.Glu94Lys)
|
rs1343535255
|
0.00001
|
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met)
|
rs767293945
|
0.00001
|
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His)
|
rs746543920
|
0.00001
|
NM_001199107.2(TBC1D24):c.384C>G (p.Ile128Met)
|
rs754479878
|
0.00001
|
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr)
|
rs770787878
|
0.00001
|
NM_001199107.2(TBC1D24):c.413T>C (p.Val138Ala)
|
rs1162185369
|
0.00001
|
NM_001199107.2(TBC1D24):c.415G>A (p.Ala139Thr)
|
rs565087939
|
0.00001
|
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His)
|
rs1301489148
|
0.00001
|
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser)
|
rs1277641753
|
0.00001
|
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr)
|
rs757359393
|
0.00001
|
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro)
|
rs770847294
|
0.00001
|
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly)
|
rs767035291
|
0.00001
|
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met)
|
rs763670146
|
0.00001
|
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val)
|
rs771442254
|
0.00001
|
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His)
|
rs1223160118
|
0.00001
|
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr)
|
rs796053401
|
0.00001
|
NM_001199107.2(TBC1D24):c.691G>A (p.Val231Ile)
|
rs370614433
|
0.00001
|
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)
|
rs370477379
|
0.00001
|
NM_001199107.2(TBC1D24):c.800A>G (p.Gln267Arg)
|
rs1004946712
|
0.00001
|
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val)
|
rs1417808543
|
0.00001
|
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile)
|
rs752610561
|
0.00001
|
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly)
|
rs760591932
|
0.00001
|
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr)
|
rs754019727
|
0.00001
|
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val)
|
rs909267678
|
0.00001
|
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val)
|
rs775099094
|
0.00001
|
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val)
|
rs748759187
|
0.00001
|
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)
|
rs761934676
|
0.00001
|
NM_001199107.2(TBC1D24):c.965+13C>T
|
rs531521557
|
0.00001
|
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met)
|
rs796053404
|
0.00001
|
NM_001614.5(ACTG1):c.124-3C>T
|
rs143798951
|
0.00001
|
NM_001614.5(ACTG1):c.208C>T (p.Pro70Ser)
|
rs1568062708
|
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.1073T>C (p.Met358Thr)
|
rs1184130282
|
0.00001
|
NM_005219.5(DIAPH1):c.1105G>A (p.Gly369Arg)
|
rs756750537
|
0.00001
|
NM_005219.5(DIAPH1):c.1157A>G (p.Glu386Gly)
|
rs1236323559
|
0.00001
|
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu)
|
rs367592859
|
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.1339G>A (p.Gly447Arg)
|
rs779687295
|
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.1543G>C (p.Asp515His)
|
rs759051179
|
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.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.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.2035C>T (p.Pro679Ser)
|
rs1455766498
|
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.2203G>T (p.Gly735Cys)
|
rs757761745
|
0.00001
|
NM_005219.5(DIAPH1):c.224A>G (p.Tyr75Cys)
|
rs745759508
|
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.2563A>C (p.Lys855Gln)
|
rs991588859
|
0.00001
|
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr)
|
rs727502961
|
0.00001
|
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro)
|
rs746418816
|
0.00001
|
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met)
|
rs773243948
|
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.2944C>T (p.Leu982Phe)
|
rs1431409262
|
0.00001
|
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln)
|
rs1006618137
|
0.00001
|
NM_005219.5(DIAPH1):c.3038C>T (p.Thr1013Ile)
|
rs752924382
|
0.00001
|
NM_005219.5(DIAPH1):c.3128A>G (p.His1043Arg)
|
rs756215904
|
0.00001
|
NM_005219.5(DIAPH1):c.3188A>G (p.Lys1063Arg)
|
rs757169374
|
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.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.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.3550G>C (p.Glu1184Gln)
|
rs1355259448
|
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.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.512C>G (p.Ser171Cys)
|
rs1251709997
|
0.00001
|
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys)
|
rs746125273
|
0.00001
|
NM_005219.5(DIAPH1):c.629A>G (p.Asp210Gly)
|
rs1424725542
|
0.00001
|
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln)
|
rs727504973
|
0.00001
|
NM_005219.5(DIAPH1):c.684+6A>G
|
rs1038136298
|
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.814C>G (p.Pro272Ala)
|
rs778493344
|
0.00001
|
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser)
|
rs1034109754
|
0.00001
|
NM_016356.5(DCDC2):c.1024A>T (p.Arg342Trp)
|
rs753636454
|
0.00001
|
NM_016356.5(DCDC2):c.1223C>T (p.Thr408Ile)
|
rs1367144327
|
0.00001
|
NM_016356.5(DCDC2):c.1241A>C (p.Glu414Ala)
|
rs773832570
|
0.00001
|
NM_016356.5(DCDC2):c.401C>T (p.Pro134Leu)
|
rs779076957
|
0.00001
|
NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala)
|
rs746447569
|
0.00001
|
NC_000005.9:g.(?_140896398)_(140998501_?)dup
|
|
|
NC_000006.11:g.(?_24174958)_(24178880_?)dup
|
|
|
NC_000013.10:g.(?_20716100)_(21398980_?)dup
|
|
|
NC_000013.10:g.(?_20763040)_(20797619_?)dup
|
|
|
NC_000013.10:g.(?_20796834)_(21099933_?)del
|
|
|
NC_000014.8:g.(?_60976117)_(61191013_?)dup
|
|
|
NC_000014.8:g.(?_60976117)_(61447691_?)del
|
|
|
NC_000016.9:g.(?_2098597)_(2550979_?)dup
|
|
|
NC_000016.9:g.(?_2546130)_(2550979_?)dup
|
|
|
NC_000016.9:g.(?_2546150)_(2550959_?)dup
|
|
|
NC_000016.9:g.(?_2549338)_(2550959_?)dup
|
|
|
NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)
|
|
|
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)
|
|
|
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)
|
rs2137333664
|
|
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln)
|
rs571454176
|
|
NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)
|
|
|
NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)
|
|
|
NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu)
|
rs747722057
|
|
NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)
|
|
|
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val)
|
rs1869317427
|
|
NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)
|
|
|
NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)
|
|
|
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln)
|
rs201783640
|
|
NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)
|
|
|
NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)
|
|
|
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu)
|
rs200881320
|
|
NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)
|
|
|
NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)
|
|
|
NM_001110219.3(GJB6):c.63del (p.Lys22fs)
|
rs770612890
|
|
NM_001110219.3(GJB6):c.689dup (p.Asn230fs)
|
rs398124237
|
|
NM_001110219.3(GJB6):c.695C>A (p.Pro232His)
|
rs752253778
|
|
NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)
|
|
|
NM_001199107.2(TBC1D24):c.1016A>C (p.Asn339Thr)
|
|
|
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp)
|
rs1159971280
|
|
NM_001199107.2(TBC1D24):c.1030A>G (p.Ile344Val)
|
rs2141874280
|
|
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met)
|
rs769656369
|
|
NM_001199107.2(TBC1D24):c.1075G>A (p.Glu359Lys)
|
|
|
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)
|
rs765965968
|
|
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu)
|
rs2141874400
|
|
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His)
|
rs2065761961
|
|
NM_001199107.2(TBC1D24):c.1102C>G (p.Leu368Val)
|
|
|
NM_001199107.2(TBC1D24):c.1104G>T (p.Leu368=)
|
|
|
NM_001199107.2(TBC1D24):c.1138G>T (p.Ala380Ser)
|
rs2141874469
|
|
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala)
|
rs1435411888
|
|
NM_001199107.2(TBC1D24):c.1188C>G (p.Ile396Met)
|
|
|
NM_001199107.2(TBC1D24):c.1198_1200dup (p.Gln400dup)
|
rs752216831
|
|
NM_001199107.2(TBC1D24):c.119G>C (p.Arg40Pro)
|
|
|
NM_001199107.2(TBC1D24):c.1207-19A>G
|
|
|
NM_001199107.2(TBC1D24):c.1213G>A (p.Gly405Ser)
|
|
|
NM_001199107.2(TBC1D24):c.1228A>G (p.Thr410Ala)
|
|
|
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn)
|
rs2065776034
|
|
NM_001199107.2(TBC1D24):c.1244G>A (p.Arg415Lys)
|
|
|
NM_001199107.2(TBC1D24):c.1253T>G (p.Phe418Cys)
|
rs776176742
|
|
NM_001199107.2(TBC1D24):c.1256G>C (p.Gly419Ala)
|
|
|
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys)
|
rs1596972145
|
|
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg)
|
|
|
NM_001199107.2(TBC1D24):c.1298T>C (p.Phe433Ser)
|
|
|
NM_001199107.2(TBC1D24):c.1299T>A (p.Phe433Leu)
|
|
|
NM_001199107.2(TBC1D24):c.1303-5C>A
|
rs1468286638
|
|
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly)
|
rs775497984
|
|
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln)
|
rs141399869
|
|
NM_001199107.2(TBC1D24):c.1342A>G (p.Lys448Glu)
|
|
|
NM_001199107.2(TBC1D24):c.1358C>T (p.Thr453Ile)
|
|
|
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala)
|
rs2065781206
|
|
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln)
|
rs200641000
|
|
NM_001199107.2(TBC1D24):c.1369C>T (p.Pro457Ser)
|
|
|
NM_001199107.2(TBC1D24):c.1393G>T (p.Ala465Ser)
|
|
|
NM_001199107.2(TBC1D24):c.1396C>G (p.Pro466Ala)
|
|
|
NM_001199107.2(TBC1D24):c.1399C>T (p.Leu467Phe)
|
|
|
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr)
|
rs2065781840
|
|
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu)
|
rs2065782431
|
|
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln)
|
rs765396824
|
|
NM_001199107.2(TBC1D24):c.1454C>T (p.Ala485Val)
|
|
|
NM_001199107.2(TBC1D24):c.1466A>G (p.Asn489Ser)
|
|
|
NM_001199107.2(TBC1D24):c.1471C>T (p.Pro491Ser)
|
rs1326854687
|
|
NM_001199107.2(TBC1D24):c.1474T>A (p.Ser492Thr)
|
rs2141877364
|
|
NM_001199107.2(TBC1D24):c.1489A>G (p.Met497Val)
|
rs2065783244
|
|
NM_001199107.2(TBC1D24):c.1495A>G (p.Met499Val)
|
rs2065783330
|
|
NM_001199107.2(TBC1D24):c.1505G>A (p.Gly502Asp)
|
|
|
NM_001199107.2(TBC1D24):c.1508G>A (p.Ser503Asn)
|
|
|
NM_001199107.2(TBC1D24):c.1525+6C>A
|
|
|
NM_001199107.2(TBC1D24):c.1526-2A>C
|
rs1131691552
|
|
NM_001199107.2(TBC1D24):c.1526G>A (p.Gly509Glu)
|
|
|
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val)
|
rs796053406
|
|
NM_001199107.2(TBC1D24):c.1538G>A (p.Gly513Asp)
|
|
|
NM_001199107.2(TBC1D24):c.1550A>G (p.Tyr517Cys)
|
|
|
NM_001199107.2(TBC1D24):c.1552A>G (p.Ile518Val)
|
|
|
NM_001199107.2(TBC1D24):c.1555G>A (p.Asp519Asn)
|
|
|
NM_001199107.2(TBC1D24):c.1559G>A (p.Gly520Glu)
|
|
|
NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu)
|
rs755313242
|
|
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=)
|
rs971385188
|
|
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn)
|
rs2065787303
|
|
NM_001199107.2(TBC1D24):c.1574G>A (p.Gly525Asp)
|
|
|
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His)
|
rs752301570
|
|
NM_001199107.2(TBC1D24):c.1582A>G (p.Ser528Gly)
|
|
|
NM_001199107.2(TBC1D24):c.1583G>A (p.Ser528Asn)
|
|
|
NM_001199107.2(TBC1D24):c.1591G>T (p.Asp531Tyr)
|
|
|
NM_001199107.2(TBC1D24):c.1601A>G (p.Asn534Ser)
|
|
|
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs)
|
rs1567414972
|
|
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser)
|
rs2065788002
|
|
NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu)
|
|
|
NM_001199107.2(TBC1D24):c.1610C>A (p.Pro537His)
|
|
|
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu)
|
rs1060502502
|
|
NM_001199107.2(TBC1D24):c.1633A>T (p.Ile545Phe)
|
|
|
NM_001199107.2(TBC1D24):c.1642G>T (p.Val548Leu)
|
|
|
NM_001199107.2(TBC1D24):c.1655G>T (p.Gly552Val)
|
|
|
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu)
|
rs2141870903
|
|
NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)
|
|
|
NM_001199107.2(TBC1D24):c.170G>A (p.Arg57His)
|
rs370100394
|
|
NM_001199107.2(TBC1D24):c.179G>C (p.Arg60Pro)
|
|
|
NM_001199107.2(TBC1D24):c.181G>T (p.Asp61Tyr)
|
|
|
NM_001199107.2(TBC1D24):c.184A>G (p.Ile62Val)
|
|
|
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser)
|
rs952274725
|
|
NM_001199107.2(TBC1D24):c.194G>A (p.Arg65His)
|
|
|
NM_001199107.2(TBC1D24):c.197C>G (p.Thr66Arg)
|
rs371245371
|
|
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val)
|
rs2141870575
|
|
NM_001199107.2(TBC1D24):c.210C>A (p.Asp70Glu)
|
|
|
NM_001199107.2(TBC1D24):c.215G>A (p.Ser72Asn)
|
rs2141871042
|
|
NM_001199107.2(TBC1D24):c.227A>G (p.Asp76Gly)
|
|
|
NM_001199107.2(TBC1D24):c.229A>T (p.Ile77Phe)
|
|
|
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met)
|
rs747915584
|
|
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu)
|
rs747915584
|
|
NM_001199107.2(TBC1D24):c.247G>T (p.Gly83Cys)
|
|
|
NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp)
|
|
|
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp)
|
rs2065739166
|
|
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr)
|
rs2065739166
|
|
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn)
|
|
|
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly)
|
rs2065739291
|
|
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn)
|
rs2065739388
|
|
NM_001199107.2(TBC1D24):c.284T>C (p.Phe95Ser)
|
|
|
NM_001199107.2(TBC1D24):c.285C>G (p.Phe95Leu)
|
|
|
NM_001199107.2(TBC1D24):c.286G>A (p.Val96Met)
|
|
|
NM_001199107.2(TBC1D24):c.286G>C (p.Val96Leu)
|
|
|
NM_001199107.2(TBC1D24):c.296C>T (p.Thr99Met)
|
|
|
NM_001199107.2(TBC1D24):c.299A>G (p.Gln100Arg)
|
|
|
NM_001199107.2(TBC1D24):c.317T>A (p.Leu106Gln)
|
|
|
NM_001199107.2(TBC1D24):c.325C>A (p.Arg109Ser)
|
|
|
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly)
|
rs372337277
|
|
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)
|
rs747821285
|
|
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys)
|
rs773211471
|
|
NM_001199107.2(TBC1D24):c.331G>C (p.Glu111Gln)
|
|
|
NM_001199107.2(TBC1D24):c.333G>T (p.Glu111Asp)
|
|
|
NM_001199107.2(TBC1D24):c.348G>T (p.Lys116Asn)
|
|
|
NM_001199107.2(TBC1D24):c.352C>T (p.Leu118Phe)
|
|
|
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser)
|
rs1457138817
|
|
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=)
|
rs752594126
|
|
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu)
|
rs1567411503
|
|
NM_001199107.2(TBC1D24):c.376C>T (p.Pro126Ser)
|
|
|
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn)
|
rs750962753
|
|
NM_001199107.2(TBC1D24):c.380A>G (p.Asp127Gly)
|
|
|
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp)
|
rs777604231
|
|
NM_001199107.2(TBC1D24):c.397G>T (p.Ala133Ser)
|
|
|
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val)
|
rs2065741608
|
|
NM_001199107.2(TBC1D24):c.401T>C (p.Leu134Pro)
|
rs2065741689
|
|
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu)
|
rs200263150
|
|
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val)
|
rs1274130724
|
|
NM_001199107.2(TBC1D24):c.430T>C (p.Tyr144His)
|
|
|
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys)
|
rs1596968109
|
|
NM_001199107.2(TBC1D24):c.434G>A (p.Ser145Asn)
|
rs2141871675
|
|
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val)
|
rs2065742678
|
|
NM_001199107.2(TBC1D24):c.448G>A (p.Glu150Lys)
|
|
|
NM_001199107.2(TBC1D24):c.455T>C (p.Phe152Ser)
|
|
|
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala)
|
rs1424074905
|
|
NM_001199107.2(TBC1D24):c.458A>G (p.Glu153Gly)
|
|
|
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp)
|
rs1169312508
|
|
NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile)
|
|
|
NM_001199107.2(TBC1D24):c.461A>G (p.Lys154Arg)
|
|
|
NM_001199107.2(TBC1D24):c.487G>T (p.Asp163Tyr)
|
|
|
NM_001199107.2(TBC1D24):c.490C>T (p.Pro164Ser)
|
|
|
NM_001199107.2(TBC1D24):c.493G>T (p.Gly165Cys)
|
|
|
NM_001199107.2(TBC1D24):c.508G>A (p.Asp170Asn)
|
|
|
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp)
|
rs2065744128
|
|
NM_001199107.2(TBC1D24):c.524C>G (p.Ala175Gly)
|
rs2065744128
|
|
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp)
|
rs483352866
|
|
NM_001199107.2(TBC1D24):c.538T>C (p.Cys180Arg)
|
|
|
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del)
|
rs1215641557
|
|
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val)
|
rs1555501245
|
|
NM_001199107.2(TBC1D24):c.585C>G (p.His195Gln)
|
|
|
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg)
|
rs758299397
|
|
NM_001199107.2(TBC1D24):c.596T>C (p.Val199Ala)
|
|
|
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)
|
rs796053400
|
|
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His)
|
rs876658012
|
|
NM_001199107.2(TBC1D24):c.628G>A (p.Ala210Thr)
|
rs2141872095
|
|
NM_001199107.2(TBC1D24):c.631G>A (p.Asp211Asn)
|
|
|
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly)
|
rs1596968508
|
|
NM_001199107.2(TBC1D24):c.650T>A (p.Phe217Tyr)
|
rs1441237124
|
|
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys)
|
rs1159293544
|
|
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro)
|
rs2065745991
|
|
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg)
|
rs2141870701
|
|
NM_001199107.2(TBC1D24):c.683T>A (p.Val228Asp)
|
|
|
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu)
|
rs1567410958
|
|
NM_001199107.2(TBC1D24):c.710A>G (p.Tyr237Cys)
|
|
|
NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)
|
|
|
NM_001199107.2(TBC1D24):c.721T>A (p.Tyr241Asn)
|
|
|
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu)
|
rs375873110
|
|
NM_001199107.2(TBC1D24):c.746A>T (p.Lys249Met)
|
|
|
NM_001199107.2(TBC1D24):c.750C>G (p.Phe250Leu)
|
rs1555501289
|
|
NM_001199107.2(TBC1D24):c.751T>G (p.Phe251Val)
|
rs267607104
|
|
NM_001199107.2(TBC1D24):c.759G>C (p.Lys253Asn)
|
rs190306450
|
|
NM_001199107.2(TBC1D24):c.769G>A (p.Gly257Arg)
|
|
|
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp)
|
rs1440897868
|
|
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys)
|
rs369120050
|
|
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu)
|
rs2065735848
|
|
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu)
|
rs779398267
|
|
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln)
|
rs2065747894
|
|
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His)
|
rs2065747955
|
|
NM_001199107.2(TBC1D24):c.790A>G (p.Ser264Gly)
|
|
|
NM_001199107.2(TBC1D24):c.791G>A (p.Ser264Asn)
|
|
|
NM_001199107.2(TBC1D24):c.793G>T (p.Val265Leu)
|
rs772768393
|
|
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met)
|
rs762576413
|
|
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
|
|
|
NM_001199107.2(TBC1D24):c.812C>T (p.Thr271Met)
|
rs1328684138
|
|
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del)
|
rs2141872549
|
|
NM_001199107.2(TBC1D24):c.824A>G (p.Asp275Gly)
|
rs2141872557
|
|
NM_001199107.2(TBC1D24):c.828C>G (p.Ile276Met)
|
|
|
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser)
|
rs754019727
|
|
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met)
|
rs867618745
|
|
NM_001199107.2(TBC1D24):c.841T>C (p.Ser281Pro)
|
|
|
NM_001199107.2(TBC1D24):c.842C>A (p.Ser281Tyr)
|
|
|
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe)
|
rs2065735946
|
|
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys)
|
rs1351414664
|
|
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala)
|
rs2065736000
|
|
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His)
|
rs760666914
|
|
NM_001199107.2(TBC1D24):c.890G>T (p.Arg297Leu)
|
rs760666914
|
|
NM_001199107.2(TBC1D24):c.916G>A (p.Ala306Thr)
|
rs2141872755
|
|
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val)
|
rs1160994039
|
|
NM_001199107.2(TBC1D24):c.955A>C (p.Lys319Gln)
|
rs2141872821
|
|
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg)
|
rs2141870761
|
|
NM_001199107.2(TBC1D24):c.963G>T (p.Lys321Asn)
|
rs2141872825
|
|
NM_001199107.2(TBC1D24):c.965+4G>C
|
rs781629915
|
|
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn)
|
rs1567412410
|
|
NM_001199107.2(TBC1D24):c.966-10T>A
|
rs1217245218
|
|
NM_001199107.2(TBC1D24):c.967G>A (p.Val323Met)
|
|
|
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu)
|
rs1567412736
|
|
NM_001199107.2(TBC1D24):c.977C>A (p.Ser326Tyr)
|
rs2141873571
|
|
NM_001199107.2(TBC1D24):c.984G>A (p.Arg328=)
|
rs774492330
|
|
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile)
|
|
|
NM_001199107.2(TBC1D24):c.994C>T (p.His332Tyr)
|
|
|
NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg)
|
|
|
NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp)
|
|
|
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe)
|
rs1555666360
|
|
NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr)
|
|
|
NM_001614.5(ACTG1):c.123+5G>C
|
|
|
NM_001614.5(ACTG1):c.160G>A (p.Val54Met)
|
rs2143784086
|
|
NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)
|
|
|
NM_001614.5(ACTG1):c.260A>T (p.His87Leu)
|
rs2143783289
|
|
NM_001614.5(ACTG1):c.269T>C (p.Phe90Ser)
|
|
|
NM_001614.5(ACTG1):c.280C>G (p.Leu94Val)
|
rs782388764
|
|
NM_001614.5(ACTG1):c.311T>A (p.Leu104Gln)
|
|
|
NM_001614.5(ACTG1):c.346dup (p.Arg116fs)
|
|
|
NM_001614.5(ACTG1):c.349_352del (p.Glu117fs)
|
rs2143782665
|
|
NM_001614.5(ACTG1):c.364-3C>G
|
|
|
NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala)
|
|
|
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile)
|
rs876657740
|
|
NM_001614.5(ACTG1):c.389C>A (p.Pro130Gln)
|
rs1555666823
|
|
NM_001614.5(ACTG1):c.395T>C (p.Met132Thr)
|
rs1555666818
|
|
NM_001614.5(ACTG1):c.426C>G (p.Leu142=)
|
rs112043655
|
|
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr)
|
rs11549196
|
|
NM_001614.5(ACTG1):c.433T>G (p.Ser145Ala)
|
rs2143779284
|
|
NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys)
|
|
|
NM_001614.5(ACTG1):c.445A>G (p.Thr149Ala)
|
rs781968214
|
|
NM_001614.5(ACTG1):c.458T>C (p.Met153Thr)
|
|
|
NM_001614.5(ACTG1):c.525C>G (p.Ile175Met)
|
rs146667866
|
|
NM_001614.5(ACTG1):c.583G>A (p.Glu195Lys)
|
rs2143778304
|
|
NM_001614.5(ACTG1):c.5A>T (p.Glu2Val)
|
|
|
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp)
|
rs1598548614
|
|
NM_001614.5(ACTG1):c.629G>A (p.Arg210His)
|
rs1555666709
|
|
NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr)
|
|
|
NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp)
|
|
|
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
|
|
|
NM_001614.5(ACTG1):c.698C>T (p.Ser233Phe)
|
|
|
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe)
|
rs11549179
|
|
NM_001614.5(ACTG1):c.704_706del (p.Ser235del)
|
rs782541695
|
|
NM_001614.5(ACTG1):c.737A>T (p.Gln246Leu)
|
rs1568061110
|
|
NM_001614.5(ACTG1):c.753C>T (p.Gly251=)
|
|
|
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu)
|
rs11549191
|
|
NM_001614.5(ACTG1):c.807G>A (p.Met269Ile)
|
rs2143775969
|
|
NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser)
|
|
|
NM_001614.5(ACTG1):c.823C>T (p.His275Tyr)
|
|
|
NM_001614.5(ACTG1):c.828G>C (p.Glu276Asp)
|
|
|
NM_001614.5(ACTG1):c.82C>T (p.Arg28Ter)
|
|
|
NM_001614.5(ACTG1):c.872A>G (p.Lys291Arg)
|
rs1568060667
|
|
NM_001614.5(ACTG1):c.898T>G (p.Ser300Ala)
|
|
|
NM_001614.5(ACTG1):c.932A>T (p.Asp311Val)
|
|
|
NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg)
|
|
|
NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu)
|
|
|
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
|
|
|
NM_005219.5(DIAPH1):c.1000A>C (p.Ile334Leu)
|
|
|
NM_005219.5(DIAPH1):c.1002C>G (p.Ile334Met)
|
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.1018C>G (p.Arg340Gly)
|
|
|
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys)
|
rs754730261
|
|
NM_005219.5(DIAPH1):c.1034A>G (p.Gln345Arg)
|
|
|
NM_005219.5(DIAPH1):c.1044+6A>G
|
|
|
NM_005219.5(DIAPH1):c.104A>G (p.Lys35Arg)
|
|
|
NM_005219.5(DIAPH1):c.1052G>A (p.Arg351Gln)
|
|
|
NM_005219.5(DIAPH1):c.1055A>G (p.Glu352Gly)
|
rs779820289
|
|
NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His)
|
|
|
NM_005219.5(DIAPH1):c.1076G>T (p.Arg359Ile)
|
|
|
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.1130A>G (p.Lys377Arg)
|
|
|
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.1164-3C>A
|
rs2154596419
|
|
NM_005219.5(DIAPH1):c.1164-9C>G
|
|
|
NM_005219.5(DIAPH1):c.1164T>C (p.Asp388=)
|
|
|
NM_005219.5(DIAPH1):c.116T>C (p.Phe39Ser)
|
rs2154597560
|
|
NM_005219.5(DIAPH1):c.117T>C (p.Phe39=)
|
|
|
NM_005219.5(DIAPH1):c.119C>T (p.Thr40Ile)
|
rs1437971317
|
|
NM_005219.5(DIAPH1):c.1205A>G (p.Lys402Arg)
|
|
|
NM_005219.5(DIAPH1):c.1211C>T (p.Ser404Leu)
|
|
|
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.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+3A>G
|
rs747583916
|
|
NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His)
|
|
|
NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys)
|
|
|
NM_005219.5(DIAPH1):c.1310G>A (p.Cys437Tyr)
|
rs2099896035
|
|
NM_005219.5(DIAPH1):c.1319A>G (p.Gln440Arg)
|
|
|
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.1369C>T (p.Leu457Phe)
|
|
|
NM_005219.5(DIAPH1):c.1376T>C (p.Ile459Thr)
|
|
|
NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val)
|
|
|
NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr)
|
|
|
NM_005219.5(DIAPH1):c.1397-3C>T
|
rs2154596393
|
|
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+5G>C
|
|
|
NM_005219.5(DIAPH1):c.1461+6T>C
|
|
|
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.1496A>G (p.Gln499Arg)
|
|
|
NM_005219.5(DIAPH1):c.1501G>A (p.Glu501Lys)
|
|
|
NM_005219.5(DIAPH1):c.1513A>T (p.Met505Leu)
|
|
|
NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val)
|
|
|
NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu)
|
|
|
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr)
|
rs2099897675
|
|
NM_005219.5(DIAPH1):c.1535A>G (p.Lys512Arg)
|
|
|
NM_005219.5(DIAPH1):c.1553G>C (p.Gly518Ala)
|
|
|
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr)
|
rs1453865659
|
|
NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile)
|
|
|
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile)
|
rs1446595487
|
|
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.1613A>C (p.Glu538Ala)
|
rs2154596341
|
|
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.1641G>A (p.Glu547=)
|
rs2099895745
|
|
NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile)
|
|
|
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.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.1742C>G (p.Pro581Arg)
|
|
|
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.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.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.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.1821TCC[14] (p.Pro618_Pro620dup)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_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[6] (p.Pro616_Pro620del)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_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.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.1840_1860dup (p.Pro620_Leu621insProProProProProProPro)
|
|
|
NM_005219.5(DIAPH1):c.1841C>T (p.Pro614Leu)
|
|
|
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.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.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.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.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.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.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.2000CTT[1] (p.Ser668del)
|
rs1323222030
|
|
NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe)
|
|
|
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe)
|
rs1284785470
|
|
NM_005219.5(DIAPH1):c.2013_2048dup (p.Gly672_Gly683dup)
|
rs2154596291
|
|
NM_005219.5(DIAPH1):c.2015G>A (p.Gly672Asp)
|
|
|
NM_005219.5(DIAPH1):c.2017A>G (p.Thr673Ala)
|
|
|
NM_005219.5(DIAPH1):c.2018C>T (p.Thr673Ile)
|
rs13174988
|
|
NM_005219.5(DIAPH1):c.2023A>G (p.Ile675Val)
|
rs1596378879
|
|
NM_005219.5(DIAPH1):c.2024T>C (p.Ile675Thr)
|
rs2154596293
|
|
NM_005219.5(DIAPH1):c.2025C>G (p.Ile675Met)
|
rs557522528
|
|
NM_005219.5(DIAPH1):c.2026C>T (p.Pro676Ser)
|
rs1160456432
|
|
NM_005219.5(DIAPH1):c.2028_2030del (p.Pro680del)
|
|
|
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)
|
rs761912885
|
|
NM_005219.5(DIAPH1):c.2030C>G (p.Pro677Arg)
|
|
|
NM_005219.5(DIAPH1):c.2030C>T (p.Pro677Leu)
|
rs761912885
|
|
NM_005219.5(DIAPH1):c.2034_2072del (p.Arg686_Ala698del)
|
|
|
NM_005219.5(DIAPH1):c.2036C>G (p.Pro679Arg)
|
|
|
NM_005219.5(DIAPH1):c.2050A>T (p.Ser684Cys)
|
rs2154596289
|
|
NM_005219.5(DIAPH1):c.2056A>G (p.Arg686Gly)
|
|
|
NM_005219.5(DIAPH1):c.2056_2094del (p.Arg686_Ala698del)
|
rs768124450
|
|
NM_005219.5(DIAPH1):c.2057G>T (p.Arg686Ile)
|
|
|
NM_005219.5(DIAPH1):c.2061C>G (p.Ile687Met)
|
rs1436744741
|
|
NM_005219.5(DIAPH1):c.2066C>G (p.Pro689Arg)
|
rs1233431834
|
|
NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del)
|
rs746438941
|
|
NM_005219.5(DIAPH1):c.2068C>T (p.Pro690Ser)
|
|
|
NM_005219.5(DIAPH1):c.206G>C (p.Arg69Thr)
|
rs1356506474
|
|
NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser)
|
rs1334098898
|
|
NM_005219.5(DIAPH1):c.2075C>G (p.Pro692Arg)
|
|
|
NM_005219.5(DIAPH1):c.2091T>A (p.Ser697Arg)
|
|
|
NM_005219.5(DIAPH1):c.2092G>A (p.Ala698Thr)
|
|
|
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn)
|
rs199830182
|
|
NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr)
|
rs199830182
|
|
NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr)
|
rs576129553
|
|
NM_005219.5(DIAPH1):c.2101C>T (p.Pro701Ser)
|
rs576129553
|
|
NM_005219.5(DIAPH1):c.2108C>A (p.Pro703Gln)
|
|
|
NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg)
|
rs762356974
|
|
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu)
|
rs762356974
|
|
NM_005219.5(DIAPH1):c.211T>C (p.Ser71Pro)
|
|
|
NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val)
|
|
|
NM_005219.5(DIAPH1):c.2144C>G (p.Pro715Arg)
|
|
|
NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)
|
|
|
NM_005219.5(DIAPH1):c.2147C>T (p.Pro716Leu)
|
|
|
NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser)
|
rs2099895535
|
|
NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg)
|
rs770966255
|
|
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His)
|
rs373520931
|
|
NM_005219.5(DIAPH1):c.2162C>G (p.Pro721Arg)
|
|
|
NM_005219.5(DIAPH1):c.2167G>A (p.Gly723Ser)
|
rs1219615963
|
|
NM_005219.5(DIAPH1):c.2182C>T (p.Pro728Ser)
|
|
|
NM_005219.5(DIAPH1):c.2183C>T (p.Pro728Leu)
|
rs2154596280
|
|
NM_005219.5(DIAPH1):c.2186C>T (p.Pro729Leu)
|
|
|
NM_005219.5(DIAPH1):c.2189C>T (p.Pro730Leu)
|
rs2154596279
|
|
NM_005219.5(DIAPH1):c.218C>T (p.Ala73Val)
|
rs2154596692
|
|
NM_005219.5(DIAPH1):c.2197C>T (p.Pro733Ser)
|
|
|
NM_005219.5(DIAPH1):c.21C>G (p.Ser7Arg)
|
|
|
NM_005219.5(DIAPH1):c.2216C>T (p.Pro739Leu)
|
|
|
NM_005219.5(DIAPH1):c.221C>T (p.Ser74Leu)
|
|
|
NM_005219.5(DIAPH1):c.2221C>T (p.Pro741Ser)
|
|
|
NM_005219.5(DIAPH1):c.2222C>T (p.Pro741Leu)
|
|
|
NM_005219.5(DIAPH1):c.2233A>G (p.Met745Val)
|
|
|
NM_005219.5(DIAPH1):c.2236G>T (p.Gly746Cys)
|
rs1258812442
|
|
NM_005219.5(DIAPH1):c.2237G>A (p.Gly746Asp)
|
rs1267697203
|
|
NM_005219.5(DIAPH1):c.2239A>G (p.Met747Val)
|
rs750444590
|
|
NM_005219.5(DIAPH1):c.2242C>A (p.Pro748Thr)
|
rs760810515
|
|
NM_005219.5(DIAPH1):c.2243C>T (p.Pro748Leu)
|
|
|
NM_005219.5(DIAPH1):c.2255C>A (p.Pro752Gln)
|
|
|
NM_005219.5(DIAPH1):c.2263T>C (p.Phe755Leu)
|
|
|
NM_005219.5(DIAPH1):c.2267G>C (p.Gly756Ala)
|
rs1423322662
|
|
NM_005219.5(DIAPH1):c.2282C>T (p.Pro761Leu)
|
rs1382690018
|
|
NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val)
|
|
|
NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)
|
|
|
NM_005219.5(DIAPH1):c.2306C>G (p.Pro769Arg)
|
|
|
NM_005219.5(DIAPH1):c.2309A>G (p.Lys770Arg)
|
rs2154596262
|
|
NM_005219.5(DIAPH1):c.2312A>C (p.Lys771Thr)
|
|
|
NM_005219.5(DIAPH1):c.2329G>T (p.Val777Leu)
|
|
|
NM_005219.5(DIAPH1):c.2330T>C (p.Val777Ala)
|
rs2154596261
|
|
NM_005219.5(DIAPH1):c.2333A>C (p.Gln778Pro)
|
|
|
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg)
|
rs369255077
|
|
NM_005219.5(DIAPH1):c.233A>G (p.Asp78Gly)
|
|
|
NM_005219.5(DIAPH1):c.2347A>G (p.Asn783Asp)
|
rs778373397
|
|
NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr)
|
rs1596376794
|
|
NM_005219.5(DIAPH1):c.2365G>T (p.Ala789Ser)
|
rs1596376794
|
|
NM_005219.5(DIAPH1):c.2369A>T (p.Glu790Val)
|
rs375471795
|
|
NM_005219.5(DIAPH1):c.2370G>T (p.Glu790Asp)
|
rs2099895259
|
|
NM_005219.5(DIAPH1):c.2374C>A (p.Leu792Ile)
|
|
|
NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu)
|
rs1371798081
|
|
NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn)
|
rs2099895253
|
|
NM_005219.5(DIAPH1):c.2426A>G (p.Asn809Ser)
|
|
|
NM_005219.5(DIAPH1):c.242C>A (p.Ala81Glu)
|
|
|
NM_005219.5(DIAPH1):c.2447C>A (p.Thr816Asn)
|
|
|
NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser)
|
|
|
NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe)
|
|
|
NM_005219.5(DIAPH1):c.2461G>A (p.Ala821Thr)
|
|
|
NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)
|
|
|
NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu)
|
rs2154596200
|
|
NM_005219.5(DIAPH1):c.2473+3G>A
|
|
|
NM_005219.5(DIAPH1):c.2473+3G>C
|
|
|
NM_005219.5(DIAPH1):c.2480A>C (p.Lys827Thr)
|
rs2154596192
|
|
NM_005219.5(DIAPH1):c.2482+4A>G
|
|
|
NM_005219.5(DIAPH1):c.2488A>G (p.Lys830Glu)
|
|
|
NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)
|
|
|
NM_005219.5(DIAPH1):c.2493T>G (p.Asp831Glu)
|
|
|
NM_005219.5(DIAPH1):c.2495A>G (p.Gln832Arg)
|
|
|
NM_005219.5(DIAPH1):c.2507A>G (p.Glu836Gly)
|
|
|
NM_005219.5(DIAPH1):c.2514G>T (p.Lys838Asn)
|
rs761209182
|
|
NM_005219.5(DIAPH1):c.253C>A (p.Gln85Lys)
|
rs2154596689
|
|
NM_005219.5(DIAPH1):c.253C>G (p.Gln85Glu)
|
|
|
NM_005219.5(DIAPH1):c.2543A>G (p.Glu848Gly)
|
|
|
NM_005219.5(DIAPH1):c.2552T>C (p.Val851Ala)
|
|
|
NM_005219.5(DIAPH1):c.2560T>G (p.Ser854Ala)
|
|
|
NM_005219.5(DIAPH1):c.256G>C (p.Asp86His)
|
|
|
NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys)
|
rs2099888705
|
|
NM_005219.5(DIAPH1):c.2584A>G (p.Ile862Val)
|
|
|
NM_005219.5(DIAPH1):c.2585T>C (p.Ile862Thr)
|
|
|
NM_005219.5(DIAPH1):c.2597C>A (p.Ser866Tyr)
|
|
|
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.2605A>C (p.Met869Leu)
|
|
|
NM_005219.5(DIAPH1):c.2605A>G (p.Met869Val)
|
|
|
NM_005219.5(DIAPH1):c.2606T>C (p.Met869Thr)
|
|
|
NM_005219.5(DIAPH1):c.2608C>A (p.Pro870Thr)
|
|
|
NM_005219.5(DIAPH1):c.2609C>T (p.Pro870Leu)
|
|
|
NM_005219.5(DIAPH1):c.2612A>T (p.Tyr871Phe)
|
|
|
NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile)
|
rs750058263
|
|
NM_005219.5(DIAPH1):c.2650G>A (p.Ala884Thr)
|
rs1214856083
|
|
NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe)
|
|
|
NM_005219.5(DIAPH1):c.2680C>T (p.Leu894Phe)
|
|
|
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>T (p.Lys911Asn)
|
rs767712795
|
|
NM_005219.5(DIAPH1):c.2746G>A (p.Asp916Asn)
|
|
|
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.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.2807G>A (p.Arg936His)
|
|
|
NM_005219.5(DIAPH1):c.2809C>T (p.Leu937Phe)
|
|
|
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.2878G>A (p.Val960Ile)
|
rs2099887778
|
|
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.2939C>T (p.Thr980Ile)
|
|
|
NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val)
|
|
|
NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr)
|
|
|
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.29C>G (p.Pro10Arg)
|
rs750068600
|
|
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.3017A>G (p.Lys1006Arg)
|
|
|
NM_005219.5(DIAPH1):c.3018+3G>A
|
rs2154594998
|
|
NM_005219.5(DIAPH1):c.3018+6C>T
|
rs2154594997
|
|
NM_005219.5(DIAPH1):c.3032A>C (p.Lys1011Thr)
|
|
|
NM_005219.5(DIAPH1):c.3037A>G (p.Thr1013Ala)
|
|
|
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)
|
|
|
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val)
|
rs2099897198
|
|
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.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.3127C>T (p.His1043Tyr)
|
|
|
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu)
|
rs2099887715
|
|
NM_005219.5(DIAPH1):c.3140C>T (p.Ala1047Val)
|
|
|
NM_005219.5(DIAPH1):c.3146G>A (p.Arg1049Gln)
|
|
|
NM_005219.5(DIAPH1):c.3148+6G>A
|
|
|
NM_005219.5(DIAPH1):c.3149-13_3149-3del
|
|
|
NM_005219.5(DIAPH1):c.3149-3T>A
|
|
|
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys)
|
rs1003389476
|
|
NM_005219.5(DIAPH1):c.3167A>C (p.Gln1056Pro)
|
rs2154594980
|
|
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.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.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.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.3273+19A>T
|
|
|
NM_005219.5(DIAPH1):c.3273+5C>T
|
|
|
NM_005219.5(DIAPH1):c.3273+8C>T
|
|
|
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.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.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.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.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.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.3491G>A (p.Arg1164Gln)
|
|
|
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.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.3574+5G>C
|
|
|
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.3604C>G (p.Leu1202Val)
|
rs2154594918
|
|
NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val)
|
rs1263494333
|
|
NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser)
|
|
|
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg)
|
rs2154594916
|
|
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.3661G>A (p.Ala1221Thr)
|
|
|
NM_005219.5(DIAPH1):c.3662-3C>T
|
|
|
NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)
|
|
|
NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg)
|
|
|
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.3694C>G (p.Leu1232Val)
|
|
|
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)
|
|
|
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.3727A>G (p.Met1243Val)
|
rs1554199642
|
|
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.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.3781C>T (p.Leu1261Phe)
|
rs2154594796
|
|
NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter)
|
rs2099885770
|
|
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.395C>A (p.Ser132Tyr)
|
|
|
NM_005219.5(DIAPH1):c.402+19A>G
|
|
|
NM_005219.5(DIAPH1):c.402+5G>A
|
|
|
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.427A>G (p.Lys143Glu)
|
|
|
NM_005219.5(DIAPH1):c.428A>G (p.Lys143Arg)
|
|
|
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.48C>G (p.Asp16Glu)
|
|
|
NM_005219.5(DIAPH1):c.49AAG[2] (p.Lys19del)
|
|
|
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg)
|
rs2099903137
|
|
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met)
|
rs370495662
|
|
NM_005219.5(DIAPH1):c.544A>G (p.Thr182Ala)
|
rs2099897043
|
|
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln)
|
rs1440102285
|
|
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.614C>T (p.Thr205Ile)
|
rs1489026152
|
|
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr)
|
rs2099897035
|
|
NM_005219.5(DIAPH1):c.621-3C>T
|
|
|
NM_005219.5(DIAPH1):c.625T>C (p.Tyr209His)
|
rs2154596563
|
|
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.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+3G>A
|
|
|
NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala)
|
|
|
NM_005219.5(DIAPH1):c.68C>T (p.Pro23Leu)
|
|
|
NM_005219.5(DIAPH1):c.6G>C (p.Glu2Asp)
|
|
|
NM_005219.5(DIAPH1):c.701T>C (p.Met234Thr)
|
|
|
NM_005219.5(DIAPH1):c.715G>A (p.Glu239Lys)
|
|
|
NM_005219.5(DIAPH1):c.72T>A (p.Asp24Glu)
|
rs1189716868
|
|
NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly)
|
|
|
NM_005219.5(DIAPH1):c.740C>G (p.Ala247Gly)
|
|
|
NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr)
|
|
|
NM_005219.5(DIAPH1):c.751G>A (p.Ala251Thr)
|
rs2154596507
|
|
NM_005219.5(DIAPH1):c.757C>G (p.Pro253Ala)
|
|
|
NM_005219.5(DIAPH1):c.757C>T (p.Pro253Ser)
|
|
|
NM_005219.5(DIAPH1):c.75G>C (p.Glu25Asp)
|
|
|
NM_005219.5(DIAPH1):c.761A>G (p.Asn254Ser)
|
|
|
NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr)
|
rs1160650964
|
|
NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)
|
|
|
NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile)
|
rs1562326443
|
|
NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp)
|
rs771016727
|
|
NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val)
|
|
|
NM_005219.5(DIAPH1):c.854A>T (p.Glu285Val)
|
rs1596384556
|
|
NM_005219.5(DIAPH1):c.85G>T (p.Ala29Ser)
|
|
|
NM_005219.5(DIAPH1):c.868G>T (p.Asp290Tyr)
|
|
|
NM_005219.5(DIAPH1):c.86C>T (p.Ala29Val)
|
|
|
NM_005219.5(DIAPH1):c.87G>A (p.Ala29=)
|
rs762960433
|
|
NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys)
|
rs1034109754
|
|
NM_005219.5(DIAPH1):c.890C>T (p.Pro297Leu)
|
|
|
NM_005219.5(DIAPH1):c.8C>T (p.Pro3Leu)
|
|
|
NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met)
|
|
|
NM_005219.5(DIAPH1):c.933+3A>G
|
|
|
NM_005219.5(DIAPH1):c.933+7A>G
|
|
|
NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser)
|
rs2099896293
|
|
NM_005219.5(DIAPH1):c.961C>G (p.Leu321Val)
|
rs1214669823
|
|
NM_005219.5(DIAPH1):c.96C>A (p.Asp32Glu)
|
rs1291832340
|
|
NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr)
|
rs1596384042
|
|
NM_005219.5(DIAPH1):c.988T>A (p.Phe330Ile)
|
rs2154596449
|
|
NM_005219.5(DIAPH1):c.994G>A (p.Val332Ile)
|
rs1339571940
|
|
NM_005982.4(SIX1):c.115G>T (p.Ala39Ser)
|
rs1431824329
|
|
NM_005982.4(SIX1):c.139G>C (p.Glu47Gln)
|
|
|
NM_005982.4(SIX1):c.14C>A (p.Pro5Gln)
|
|
|
NM_005982.4(SIX1):c.184A>C (p.Asn62His)
|
|
|
NM_005982.4(SIX1):c.321C>T (p.Gly107=)
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NM_005982.4(SIX1):c.340A>G (p.Lys114Glu)
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NM_005982.4(SIX1):c.356G>A (p.Arg119His)
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NM_005982.4(SIX1):c.385T>A (p.Tyr129Asn)
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NM_005982.4(SIX1):c.3G>C (p.Met1Ile)
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NM_005982.4(SIX1):c.419G>A (p.Arg140Gln)
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rs2140241105
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NM_005982.4(SIX1):c.421G>A (p.Glu141Lys)
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NM_005982.4(SIX1):c.428A>G (p.Tyr143Cys)
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NM_005982.4(SIX1):c.446del (p.Pro149fs)
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NM_005982.4(SIX1):c.457G>C (p.Glu153Gln)
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NM_005982.4(SIX1):c.468_480dup (p.Thr161fs)
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NM_005982.4(SIX1):c.482C>G (p.Thr161Ser)
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NM_005982.4(SIX1):c.487C>T (p.Leu163Phe)
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NM_005982.4(SIX1):c.502G>A (p.Val168Ile)
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NM_005982.4(SIX1):c.522C>A (p.Asn174Lys)
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NM_005982.4(SIX1):c.524G>A (p.Arg175Gln)
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rs2140240984
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NM_005982.4(SIX1):c.528G>T (p.Arg176Ser)
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NM_005982.4(SIX1):c.550G>A (p.Ala184Thr)
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NM_005982.4(SIX1):c.583TCC[2] (p.Ser197del)
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NM_005982.4(SIX1):c.620A>C (p.Glu207Ala)
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rs1894944353
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NM_005982.4(SIX1):c.644G>T (p.Ser215Ile)
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rs540778343
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NM_005982.4(SIX1):c.689C>T (p.Ser230Leu)
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NM_005982.4(SIX1):c.713T>A (p.Met238Lys)
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NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)
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NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)
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NM_005982.4(SIX1):c.811_812del (p.Leu271fs)
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rs762353418
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NM_005982.4(SIX1):c.816dup (p.Gly273fs)
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NM_005982.4(SIX1):c.838G>A (p.Val280Met)
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rs2140239343
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NM_005982.4(SIX1):c.847G>A (p.Gly283Arg)
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NM_016356.5(DCDC2):c.1056T>G (p.Asp352Glu)
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NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val)
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rs1393437679
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NM_016356.5(DCDC2):c.1165G>A (p.Glu389Lys)
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NM_016356.5(DCDC2):c.1207C>T (p.Arg403Cys)
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NM_016356.5(DCDC2):c.1219G>C (p.Gly407Arg)
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rs756047736
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NM_016356.5(DCDC2):c.1220G>T (p.Gly407Val)
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NM_016356.5(DCDC2):c.125C>T (p.Ser42Phe)
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NM_016356.5(DCDC2):c.1283A>T (p.Asp428Val)
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rs375119774
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NM_016356.5(DCDC2):c.1313G>T (p.Ser438Ile)
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NM_016356.5(DCDC2):c.1318C>T (p.Gln440Ter)
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NM_016356.5(DCDC2):c.1406A>C (p.Asn469Thr)
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NM_016356.5(DCDC2):c.23C>T (p.Ser8Phe)
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NM_016356.5(DCDC2):c.326C>T (p.Pro109Leu)
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NM_016356.5(DCDC2):c.388C>T (p.Arg130Cys)
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NM_016356.5(DCDC2):c.463C>T (p.Arg155Cys)
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NM_016356.5(DCDC2):c.467T>A (p.Leu156His)
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NM_016356.5(DCDC2):c.656C>T (p.Pro219Leu)
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NM_016356.5(DCDC2):c.660_661inv (p.Ser221Gly)
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NM_016356.5(DCDC2):c.662G>A (p.Ser221Asn)
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NM_016356.5(DCDC2):c.690G>A (p.Met230Ile)
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NM_016356.5(DCDC2):c.696G>T (p.Arg232Ser)
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NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg)
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rs948355469
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NM_016356.5(DCDC2):c.755G>C (p.Gly252Ala)
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NM_016356.5(DCDC2):c.802A>G (p.Asn268Asp)
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rs1438044739
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NM_016356.5(DCDC2):c.803A>G (p.Asn268Ser)
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NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del)
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rs760375899
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NM_016356.5(DCDC2):c.85T>C (p.Tyr29His)
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rs748676214
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NM_016356.5(DCDC2):c.866C>T (p.Thr289Met)
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NM_016356.5(DCDC2):c.886A>G (p.Lys296Glu)
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NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser)
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rs1416369642
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NM_016356.5(DCDC2):c.992A>T (p.Glu331Val)
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