NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=)
|
rs2288019
|
0.51121
|
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg)
|
rs17856705
|
0.37821
|
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu)
|
rs11644164
|
0.30436
|
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr)
|
rs2288023
|
0.28462
|
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser)
|
rs2288020
|
0.28427
|
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro)
|
rs2288022
|
0.28412
|
NM_178452.6(DNAAF1):c.1698+7G>T
|
rs3826151
|
0.27717
|
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val)
|
rs2288021
|
0.16102
|
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp)
|
rs9972733
|
0.07717
|
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu)
|
rs36062234
|
0.05873
|
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=)
|
rs76108116
|
0.05370
|
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=)
|
rs112191420
|
0.03681
|
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=)
|
rs35504640
|
0.03388
|
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu)
|
rs111472069
|
0.03191
|
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn)
|
rs149158199
|
0.02715
|
NM_178452.6(DNAAF1):c.228C>T (p.His76=)
|
rs61743547
|
0.01842
|
NM_178452.6(DNAAF1):c.352+17G>C
|
rs142704524
|
0.01446
|
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His)
|
rs112051327
|
0.01197
|
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)
|
rs34777958
|
0.01090
|
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala)
|
rs4150187
|
0.00649
|
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn)
|
rs151099638
|
0.00642
|
NM_178452.6(DNAAF1):c.2109A>G (p.Gly703=)
|
rs35214636
|
0.00501
|
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro)
|
rs141149453
|
0.00430
|
NM_178452.6(DNAAF1):c.1820T>C (p.Phe607Ser)
|
rs144628213
|
0.00365
|
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)
|
rs148674729
|
0.00342
|
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu)
|
rs112114400
|
0.00262
|
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr)
|
rs137862641
|
0.00237
|
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=)
|
rs147804813
|
0.00233
|
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn)
|
rs140386513
|
0.00190
|
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val)
|
rs145973397
|
0.00178
|
NM_178452.6(DNAAF1):c.1644+14T>C
|
rs185394395
|
0.00170
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
NM_178452.6(DNAAF1):c.1031-5A>T
|
rs79772571
|
0.00118
|
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn)
|
rs142345677
|
0.00093
|
NM_178452.6(DNAAF1):c.113G>C (p.Gly38Ala)
|
rs200992452
|
0.00086
|
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)
|
rs145680314
|
0.00085
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg)
|
rs138838276
|
0.00072
|
NM_178452.6(DNAAF1):c.432C>T (p.Ile144=)
|
rs143312655
|
0.00063
|
NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg)
|
rs117114021
|
0.00054
|
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu)
|
rs147393144
|
0.00053
|
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr)
|
rs201519478
|
0.00050
|
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr)
|
rs35496754
|
0.00049
|
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=)
|
rs141074491
|
0.00044
|
NM_178452.6(DNAAF1):c.1698+1G>A
|
rs139519641
|
0.00041
|
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro)
|
rs199680570
|
0.00041
|
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=)
|
rs373515859
|
0.00036
|
NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val)
|
rs149958269
|
0.00032
|
NM_178452.6(DNAAF1):c.1294G>A (p.Glu432Lys)
|
rs144990549
|
0.00027
|
NM_178452.6(DNAAF1):c.628G>A (p.Val210Met)
|
rs76598454
|
0.00027
|
NM_178452.6(DNAAF1):c.863+17C>G
|
rs200161964
|
0.00027
|
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=)
|
rs148990251
|
0.00026
|
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val)
|
rs139743343
|
0.00026
|
NM_178452.6(DNAAF1):c.1645-19G>A
|
rs192432193
|
0.00024
|
NM_178452.6(DNAAF1):c.735C>T (p.Pro245=)
|
rs139566676
|
0.00023
|
NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln)
|
rs538389058
|
0.00022
|
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=)
|
rs200487337
|
0.00022
|
NM_178452.6(DNAAF1):c.1068C>T (p.Pro356=)
|
rs370118109
|
0.00021
|
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn)
|
rs145075337
|
0.00020
|
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg)
|
rs373512514
|
0.00019
|
NM_178452.6(DNAAF1):c.1528+11C>T
|
rs375586650
|
0.00016
|
NM_178452.6(DNAAF1):c.1532C>T (p.Pro511Leu)
|
rs144393177
|
0.00015
|
NM_178452.6(DNAAF1):c.2065+9G>A
|
rs200690810
|
0.00015
|
NM_178452.6(DNAAF1):c.752A>G (p.Asn251Ser)
|
rs760764943
|
0.00015
|
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu)
|
rs761136963
|
0.00014
|
NM_178452.6(DNAAF1):c.1852C>T (p.Arg618Trp)
|
rs369294412
|
0.00014
|
NM_178452.6(DNAAF1):c.2120C>T (p.Pro707Leu)
|
rs757455850
|
0.00014
|
NM_178452.6(DNAAF1):c.863+13A>G
|
rs112775337
|
0.00014
|
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val)
|
rs144034147
|
0.00013
|
NM_178452.6(DNAAF1):c.1529-18C>G
|
rs199720934
|
0.00013
|
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys)
|
rs368031148
|
0.00013
|
NM_178452.6(DNAAF1):c.393G>T (p.Leu131=)
|
rs569848695
|
0.00013
|
NM_178452.6(DNAAF1):c.1030+14C>T
|
rs202113269
|
0.00012
|
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=)
|
rs769877978
|
0.00012
|
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg)
|
rs4150188
|
0.00012
|
NM_178452.6(DNAAF1):c.812G>A (p.Arg271Gln)
|
rs140751779
|
0.00012
|
NM_178452.6(DNAAF1):c.2065+5G>A
|
rs774606576
|
0.00011
|
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=)
|
rs145469545
|
0.00011
|
NM_178452.6(DNAAF1):c.2166G>A (p.Pro722=)
|
rs764624773
|
0.00011
|
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=)
|
rs370128838
|
0.00011
|
NM_178452.6(DNAAF1):c.604A>G (p.Met202Val)
|
rs150672056
|
0.00011
|
NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=)
|
rs370819090
|
0.00010
|
NM_178452.6(DNAAF1):c.1816A>G (p.Ile606Val)
|
rs146607878
|
0.00010
|
NM_178452.6(DNAAF1):c.1172C>T (p.Pro391Leu)
|
rs767204860
|
0.00009
|
NM_178452.6(DNAAF1):c.1317G>A (p.Glu439=)
|
rs768024430
|
0.00009
|
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=)
|
rs764511452
|
0.00009
|
NM_178452.6(DNAAF1):c.1991C>G (p.Thr664Ser)
|
rs139714259
|
0.00008
|
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu)
|
rs201263027
|
0.00008
|
NM_178452.6(DNAAF1):c.1473G>A (p.Glu491=)
|
rs142870415
|
0.00007
|
NM_178452.6(DNAAF1):c.1957G>A (p.Glu653Lys)
|
rs201034372
|
0.00007
|
NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr)
|
rs376164700
|
0.00007
|
NM_178452.6(DNAAF1):c.353-18G>A
|
rs201504436
|
0.00007
|
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His)
|
rs1169328891
|
0.00007
|
NM_178452.6(DNAAF1):c.1225G>T (p.Gly409Cys)
|
rs950151051
|
0.00006
|
NM_178452.6(DNAAF1):c.1241G>T (p.Gly414Val)
|
rs142105097
|
0.00006
|
NM_178452.6(DNAAF1):c.141G>C (p.Lys47Asn)
|
rs186287554
|
0.00006
|
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=)
|
rs142601761
|
0.00006
|
NM_178452.6(DNAAF1):c.110G>A (p.Gly37Glu)
|
rs193069859
|
0.00005
|
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=)
|
rs368651695
|
0.00005
|
NM_178452.6(DNAAF1):c.1528+12G>A
|
rs765784723
|
0.00005
|
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met)
|
rs193291760
|
0.00005
|
NM_178452.6(DNAAF1):c.1645-2A>C
|
rs764066045
|
0.00005
|
NM_178452.6(DNAAF1):c.1699-9del
|
rs1187555170
|
0.00005
|
NM_178452.6(DNAAF1):c.1737G>C (p.Leu579Phe)
|
rs148622974
|
0.00005
|
NM_178452.6(DNAAF1):c.1956C>T (p.Asp652=)
|
rs764010439
|
0.00005
|
NM_178452.6(DNAAF1):c.2014C>G (p.Leu672Val)
|
rs761549054
|
0.00005
|
NM_178452.6(DNAAF1):c.336G>A (p.Leu112=)
|
rs779266990
|
0.00005
|
NM_178452.6(DNAAF1):c.618C>G (p.His206Gln)
|
rs372777928
|
0.00005
|
NM_178452.6(DNAAF1):c.989G>A (p.Arg330Gln)
|
rs751716129
|
0.00005
|
NM_178452.6(DNAAF1):c.1030+15G>A
|
rs774316277
|
0.00004
|
NM_178452.6(DNAAF1):c.1218G>A (p.Glu406=)
|
rs374207885
|
0.00004
|
NM_178452.6(DNAAF1):c.1401C>A (p.Thr467=)
|
rs758659103
|
0.00004
|
NM_178452.6(DNAAF1):c.1593G>A (p.Thr531=)
|
rs372197911
|
0.00004
|
NM_178452.6(DNAAF1):c.1713G>A (p.Pro571=)
|
rs772607419
|
0.00004
|
NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile)
|
rs759644657
|
0.00004
|
NM_178452.6(DNAAF1):c.1954G>A (p.Asp652Asn)
|
rs113845425
|
0.00004
|
NM_178452.6(DNAAF1):c.359A>T (p.Asp120Val)
|
rs143005689
|
0.00004
|
NM_178452.6(DNAAF1):c.742-6T>C
|
rs749307507
|
0.00004
|
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu)
|
rs764943936
|
0.00004
|
NM_178452.6(DNAAF1):c.114C>T (p.Gly38=)
|
rs772497904
|
0.00003
|
NM_178452.6(DNAAF1):c.1191G>C (p.Glu397Asp)
|
rs757727188
|
0.00003
|
NM_178452.6(DNAAF1):c.1272G>A (p.Ser424=)
|
rs772170131
|
0.00003
|
NM_178452.6(DNAAF1):c.1359G>A (p.Val453=)
|
rs267604662
|
0.00003
|
NM_178452.6(DNAAF1):c.1587G>A (p.Thr529=)
|
rs769031288
|
0.00003
|
NM_178452.6(DNAAF1):c.1836C>T (p.Asp612=)
|
rs763040302
|
0.00003
|
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln)
|
rs372901697
|
0.00003
|
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr)
|
rs769986363
|
0.00003
|
NM_178452.6(DNAAF1):c.2128G>T (p.Ala710Ser)
|
rs552601600
|
0.00003
|
NM_178452.6(DNAAF1):c.315C>G (p.Thr105=)
|
rs144962513
|
0.00003
|
NM_178452.6(DNAAF1):c.332C>T (p.Thr111Met)
|
rs375812500
|
0.00003
|
NM_178452.6(DNAAF1):c.339T>C (p.Tyr113=)
|
rs748288552
|
0.00003
|
NM_178452.6(DNAAF1):c.460C>T (p.Arg154Cys)
|
rs574238677
|
0.00003
|
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser)
|
rs1165621423
|
0.00002
|
NM_178452.6(DNAAF1):c.1452G>A (p.Glu484=)
|
rs773473941
|
0.00002
|
NM_178452.6(DNAAF1):c.154G>A (p.Gly52Ser)
|
rs143490141
|
0.00002
|
NM_178452.6(DNAAF1):c.1645-9C>A
|
rs775351767
|
0.00002
|
NM_178452.6(DNAAF1):c.2063C>T (p.Pro688Leu)
|
rs149659582
|
0.00002
|
NM_178452.6(DNAAF1):c.2065+8C>T
|
rs761990499
|
0.00002
|
NM_178452.6(DNAAF1):c.2106C>T (p.Val702=)
|
rs765561180
|
0.00002
|
NM_178452.6(DNAAF1):c.461G>A (p.Arg154His)
|
rs200946538
|
0.00002
|
NM_178452.6(DNAAF1):c.598T>C (p.Leu200=)
|
rs776685379
|
0.00002
|
NM_178452.6(DNAAF1):c.638T>C (p.Ile213Thr)
|
rs1433999083
|
0.00002
|
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)
|
rs267607225
|
0.00002
|
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs)
|
rs762843285
|
0.00001
|
NM_178452.6(DNAAF1):c.1016A>G (p.Glu339Gly)
|
rs779981792
|
0.00001
|
NM_178452.6(DNAAF1):c.1072A>G (p.Ser358Gly)
|
rs751146013
|
0.00001
|
NM_178452.6(DNAAF1):c.112G>A (p.Gly38Ser)
|
rs551990619
|
0.00001
|
NM_178452.6(DNAAF1):c.120G>A (p.Lys40=)
|
rs766876325
|
0.00001
|
NM_178452.6(DNAAF1):c.1275A>G (p.Ser425=)
|
rs1325549762
|
0.00001
|
NM_178452.6(DNAAF1):c.1315G>C (p.Glu439Gln)
|
rs1385574276
|
0.00001
|
NM_178452.6(DNAAF1):c.1318G>A (p.Gly440Arg)
|
rs750949357
|
0.00001
|
NM_178452.6(DNAAF1):c.1390C>T (p.Pro464Ser)
|
rs566279701
|
0.00001
|
NM_178452.6(DNAAF1):c.1550C>T (p.Ala517Val)
|
rs754836834
|
0.00001
|
NM_178452.6(DNAAF1):c.1590A>T (p.Arg530Ser)
|
rs774502745
|
0.00001
|
NM_178452.6(DNAAF1):c.1595A>T (p.Glu532Val)
|
rs1170737480
|
0.00001
|
NM_178452.6(DNAAF1):c.1644+6T>C
|
rs749557708
|
0.00001
|
NM_178452.6(DNAAF1):c.1699-5A>C
|
rs748161119
|
0.00001
|
NM_178452.6(DNAAF1):c.1731G>A (p.Ser577=)
|
rs759159646
|
0.00001
|
NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val)
|
rs374900685
|
0.00001
|
NM_178452.6(DNAAF1):c.1876A>T (p.Lys626Ter)
|
rs1489377964
|
0.00001
|
NM_178452.6(DNAAF1):c.1906C>T (p.Arg636Ter)
|
rs748869874
|
0.00001
|
NM_178452.6(DNAAF1):c.1907G>A (p.Arg636Gln)
|
rs773443425
|
0.00001
|
NM_178452.6(DNAAF1):c.191A>G (p.Gln64Arg)
|
rs878855278
|
0.00001
|
NM_178452.6(DNAAF1):c.1953C>T (p.Ser651=)
|
rs766434597
|
0.00001
|
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=)
|
rs772036783
|
0.00001
|
NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr)
|
rs775618173
|
0.00001
|
NM_178452.6(DNAAF1):c.2095G>A (p.Glu699Lys)
|
rs1428022614
|
0.00001
|
NM_178452.6(DNAAF1):c.46C>G (p.Leu16Val)
|
rs545356113
|
0.00001
|
NM_178452.6(DNAAF1):c.532C>G (p.Leu178Val)
|
rs1325784286
|
0.00001
|
NM_178452.6(DNAAF1):c.572T>C (p.Leu191Pro)
|
rs1555521180
|
0.00001
|
NM_178452.6(DNAAF1):c.575-10T>A
|
rs561544696
|
0.00001
|
NM_178452.6(DNAAF1):c.588C>T (p.Val196=)
|
rs1351387084
|
0.00001
|
NM_178452.6(DNAAF1):c.652G>C (p.Glu218Gln)
|
rs1305691679
|
0.00001
|
NM_178452.6(DNAAF1):c.683C>T (p.Ser228Leu)
|
rs775622753
|
0.00001
|
NM_178452.6(DNAAF1):c.694C>G (p.Leu232Val)
|
rs761851970
|
0.00001
|
NM_178452.6(DNAAF1):c.705G>A (p.Pro235=)
|
rs759831401
|
0.00001
|
NM_178452.6(DNAAF1):c.715del (p.Ser239fs)
|
rs758650222
|
0.00001
|
NM_178452.6(DNAAF1):c.73G>C (p.Glu25Gln)
|
rs565199726
|
0.00001
|
NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter)
|
rs267607226
|
0.00001
|
NM_178452.6(DNAAF1):c.864-12T>C
|
rs375232772
|
0.00001
|
NM_178452.6(DNAAF1):c.940C>T (p.Arg314Trp)
|
rs536922836
|
0.00001
|
NM_178452.6(DNAAF1):c.941G>A (p.Arg314Gln)
|
rs374704486
|
0.00001
|
NC_000016.10:g.(?_84148987)_(84150362_?)del
|
|
|
NC_000016.9:g.(?_84179046)_(84193421_?)del
|
|
|
NC_000016.9:g.(?_84188162)_(84203982_?)del
|
|
|
NC_000016.9:g.(?_84193260)_(84193421_?)del
|
|
|
NM_178452.5(DNAAF1):c.1306_1307ins156
|
|
|
NM_178452.6(DNAAF1):c.1015G>C (p.Glu339Gln)
|
rs755873006
|
|
NM_178452.6(DNAAF1):c.1018_1019del (p.Gln341fs)
|
rs1567555007
|
|
NM_178452.6(DNAAF1):c.1030+10C>T
|
rs775992194
|
|
NM_178452.6(DNAAF1):c.1030+11_1030+22del
|
|
|
NM_178452.6(DNAAF1):c.1030+7G>A
|
|
|
NM_178452.6(DNAAF1):c.1030+8C>T
|
rs2151253101
|
|
NM_178452.6(DNAAF1):c.1031-11T>G
|
rs200286840
|
|
NM_178452.6(DNAAF1):c.1032G>A (p.Gly344=)
|
|
|
NM_178452.6(DNAAF1):c.1040C>G (p.Thr347Arg)
|
rs771177373
|
|
NM_178452.6(DNAAF1):c.105C>T (p.Gly35=)
|
|
|
NM_178452.6(DNAAF1):c.1076C>T (p.Ala359Val)
|
|
|
NM_178452.6(DNAAF1):c.1101G>C (p.Gly367=)
|
|
|
NM_178452.6(DNAAF1):c.1124T>C (p.Met375Thr)
|
|
|
NM_178452.6(DNAAF1):c.1197G>A (p.Pro399=)
|
rs775507447
|
|
NM_178452.6(DNAAF1):c.1197G>T (p.Pro399=)
|
rs775507447
|
|
NM_178452.6(DNAAF1):c.124+12C>T
|
|
|
NM_178452.6(DNAAF1):c.124+16C>T
|
|
|
NM_178452.6(DNAAF1):c.124+6G>A
|
rs1479123454
|
|
NM_178452.6(DNAAF1):c.1240G>C (p.Gly414Arg)
|
rs766064232
|
|
NM_178452.6(DNAAF1):c.1252G>T (p.Ala418Ser)
|
rs2151265896
|
|
NM_178452.6(DNAAF1):c.1258_1335del (p.Thr420_Glu445del)
|
rs1555525141
|
|
NM_178452.6(DNAAF1):c.1262T>G (p.Leu421Arg)
|
|
|
NM_178452.6(DNAAF1):c.1263G>C (p.Leu421=)
|
|
|
NM_178452.6(DNAAF1):c.1264C>G (p.Leu422Val)
|
rs1029522235
|
|
NM_178452.6(DNAAF1):c.1271C>T (p.Ser424Leu)
|
|
|
NM_178452.6(DNAAF1):c.1284G>A (p.Glu428=)
|
|
|
NM_178452.6(DNAAF1):c.1299_1376dup (p.Gly436_Asp461dup)
|
rs2088246526
|
|
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs)
|
rs745495583
|
|
NM_178452.6(DNAAF1):c.1302A>T (p.Gly434=)
|
rs1033113310
|
|
NM_178452.6(DNAAF1):c.1311G>C (p.Glu437Asp)
|
|
|
NM_178452.6(DNAAF1):c.1320G>C (p.Gly440=)
|
rs1555525241
|
|
NM_178452.6(DNAAF1):c.1325T>A (p.Leu442His)
|
rs2151266342
|
|
NM_178452.6(DNAAF1):c.1328C>A (p.Pro443Gln)
|
rs1242687898
|
|
NM_178452.6(DNAAF1):c.1340C>T (p.Pro447Leu)
|
|
|
NM_178452.6(DNAAF1):c.1347_1502dup (p.Pro452_Pro503dup)
|
rs2088249327
|
|
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)
|
rs397515339
|
|
NM_178452.6(DNAAF1):c.1377T>C (p.Asp459=)
|
rs761136963
|
|
NM_178452.6(DNAAF1):c.1379G>T (p.Gly460Val)
|
rs2088254831
|
|
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala)
|
|
|
NM_178452.6(DNAAF1):c.1414_1491del (p.Thr472_Glu497del)
|
rs2088255429
|
|
NM_178452.6(DNAAF1):c.1435del (p.Pro478_Val479insTer)
|
|
|
NM_178452.6(DNAAF1):c.1455T>C (p.Asp485=)
|
rs1205285192
|
|
NM_178452.6(DNAAF1):c.1462C>T (p.Arg488Ter)
|
|
|
NM_178452.6(DNAAF1):c.1475G>A (p.Gly492Glu)
|
rs2151267135
|
|
NM_178452.6(DNAAF1):c.1477A>T (p.Thr493Ser)
|
rs2088261172
|
|
NM_178452.6(DNAAF1):c.147_148del (p.Ile49fs)
|
rs1555519999
|
|
NM_178452.6(DNAAF1):c.1484del (p.Pro495fs)
|
rs2088261600
|
|
NM_178452.6(DNAAF1):c.1493C>A (p.Ala498Asp)
|
rs1192806420
|
|
NM_178452.6(DNAAF1):c.1508C>G (p.Pro503Arg)
|
rs557532640
|
|
NM_178452.6(DNAAF1):c.1508C>T (p.Pro503Leu)
|
|
|
NM_178452.6(DNAAF1):c.1509C>T (p.Pro503=)
|
rs2151267410
|
|
NM_178452.6(DNAAF1):c.1512G>A (p.Leu504=)
|
rs2088264269
|
|
NM_178452.6(DNAAF1):c.1515A>T (p.Gly505=)
|
|
|
NM_178452.6(DNAAF1):c.1525G>T (p.Glu509Ter)
|
|
|
NM_178452.6(DNAAF1):c.1529-11T>C
|
|
|
NM_178452.6(DNAAF1):c.1529-17TTG[2]
|
rs369485504
|
|
NM_178452.6(DNAAF1):c.1533G>A (p.Pro511=)
|
|
|
NM_178452.6(DNAAF1):c.1537C>T (p.Pro513Ser)
|
rs561606647
|
|
NM_178452.6(DNAAF1):c.1539C>T (p.Pro513=)
|
|
|
NM_178452.6(DNAAF1):c.153G>C (p.Val51=)
|
|
|
NM_178452.6(DNAAF1):c.1549G>A (p.Ala517Thr)
|
|
|
NM_178452.6(DNAAF1):c.1555G>A (p.Glu519Lys)
|
|
|
NM_178452.6(DNAAF1):c.1557G>A (p.Glu519=)
|
|
|
NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp)
|
|
|
NM_178452.6(DNAAF1):c.1568T>A (p.Val523Asp)
|
|
|
NM_178452.6(DNAAF1):c.1578T>C (p.Leu526=)
|
|
|
NM_178452.6(DNAAF1):c.1586C>T (p.Thr529Met)
|
|
|
NM_178452.6(DNAAF1):c.1589G>A (p.Arg530Lys)
|
rs1415853219
|
|
NM_178452.6(DNAAF1):c.1606del (p.Thr536fs)
|
|
|
NM_178452.6(DNAAF1):c.1611T>C (p.Ile537=)
|
|
|
NM_178452.6(DNAAF1):c.1614A>G (p.Arg538=)
|
|
|
NM_178452.6(DNAAF1):c.1615C>A (p.Leu539Met)
|
rs1239119335
|
|
NM_178452.6(DNAAF1):c.1618G>C (p.Glu540Gln)
|
|
|
NM_178452.6(DNAAF1):c.1618G>T (p.Glu540Ter)
|
|
|
NM_178452.6(DNAAF1):c.1626G>A (p.Lys542=)
|
|
|
NM_178452.6(DNAAF1):c.1629G>C (p.Glu543Asp)
|
|
|
NM_178452.6(DNAAF1):c.1631C>T (p.Thr544Ile)
|
|
|
NM_178452.6(DNAAF1):c.1642G>A (p.Asp548Asn)
|
rs2088409947
|
|
NM_178452.6(DNAAF1):c.1644+17dup
|
|
|
NM_178452.6(DNAAF1):c.1645-19G>C
|
|
|
NM_178452.6(DNAAF1):c.1645-20C>T
|
|
|
NM_178452.6(DNAAF1):c.1645-5T>C
|
|
|
NM_178452.6(DNAAF1):c.1645-9C>T
|
|
|
NM_178452.6(DNAAF1):c.1665T>C (p.Asp555=)
|
rs576928019
|
|
NM_178452.6(DNAAF1):c.1678G>C (p.Gly560Arg)
|
|
|
NM_178452.6(DNAAF1):c.1684T>A (p.Ser562Thr)
|
|
|
NM_178452.6(DNAAF1):c.1691A>C (p.Glu564Ala)
|
rs2151278226
|
|
NM_178452.6(DNAAF1):c.1697A>G (p.Gln566Arg)
|
|
|
NM_178452.6(DNAAF1):c.1698+8T>A
|
rs1186759315
|
|
NM_178452.6(DNAAF1):c.1698+9C>T
|
|
|
NM_178452.6(DNAAF1):c.1699-3T>C
|
|
|
NM_178452.6(DNAAF1):c.1712C>A (p.Pro571Gln)
|
rs199727292
|
|
NM_178452.6(DNAAF1):c.1712C>T (p.Pro571Leu)
|
rs199727292
|
|
NM_178452.6(DNAAF1):c.1719T>A (p.Ile573=)
|
|
|
NM_178452.6(DNAAF1):c.172T>G (p.Tyr58Asp)
|
rs2151206382
|
|
NM_178452.6(DNAAF1):c.1740T>C (p.Ser580=)
|
|
|
NM_178452.6(DNAAF1):c.1746dup (p.Ser583fs)
|
|
|
NM_178452.6(DNAAF1):c.1748G>A (p.Ser583Asn)
|
rs1488717484
|
|
NM_178452.6(DNAAF1):c.1755T>A (p.Pro585=)
|
|
|
NM_178452.6(DNAAF1):c.1770G>C (p.Thr590=)
|
rs747916153
|
|
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
|
|
|
NM_178452.6(DNAAF1):c.1783C>G (p.Leu595Val)
|
|
|
NM_178452.6(DNAAF1):c.179G>C (p.Ser60Thr)
|
rs1597397944
|
|
NM_178452.6(DNAAF1):c.1807C>G (p.Leu603Val)
|
rs774702739
|
|
NM_178452.6(DNAAF1):c.1807C>T (p.Leu603=)
|
|
|
NM_178452.6(DNAAF1):c.1814dup (p.Asn605fs)
|
rs1555526915
|
|
NM_178452.6(DNAAF1):c.1832A>C (p.Lys611Thr)
|
|
|
NM_178452.6(DNAAF1):c.1899G>C (p.Leu633Phe)
|
|
|
NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter)
|
rs1060502829
|
|
NM_178452.6(DNAAF1):c.1927C>T (p.Pro643Ser)
|
|
|
NM_178452.6(DNAAF1):c.192G>T (p.Gln64His)
|
rs111414382
|
|
NM_178452.6(DNAAF1):c.1936C>G (p.Leu646Val)
|
|
|
NM_178452.6(DNAAF1):c.1937del (p.Leu646fs)
|
rs1555527001
|
|
NM_178452.6(DNAAF1):c.1954G>C (p.Asp652His)
|
rs113845425
|
|
NM_178452.6(DNAAF1):c.1957G>T (p.Glu653Ter)
|
rs201034372
|
|
NM_178452.6(DNAAF1):c.196G>T (p.Gly66Cys)
|
|
|
NM_178452.6(DNAAF1):c.1992C>T (p.Thr664=)
|
|
|
NM_178452.6(DNAAF1):c.2012C>T (p.Pro671Leu)
|
rs1597498231
|
|
NM_178452.6(DNAAF1):c.2024G>A (p.Ser675Asn)
|
|
|
NM_178452.6(DNAAF1):c.205_212del (p.Gly69fs)
|
|
|
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup)
|
rs776738547
|
|
NM_178452.6(DNAAF1):c.2065+14dup
|
rs2151282395
|
|
NM_178452.6(DNAAF1):c.2065+1del
|
rs1567571110
|
|
NM_178452.6(DNAAF1):c.2065+20A>G
|
rs1392623784
|
|
NM_178452.6(DNAAF1):c.2065+9G>T
|
|
|
NM_178452.6(DNAAF1):c.2114C>G (p.Ala705Gly)
|
rs1567574383
|
|
NM_178452.6(DNAAF1):c.2138C>A (p.Thr713Lys)
|
|
|
NM_178452.6(DNAAF1):c.2141G>C (p.Trp714Ser)
|
rs2088819587
|
|
NM_178452.6(DNAAF1):c.214G>A (p.Gly72Ser)
|
rs1597398065
|
|
NM_178452.6(DNAAF1):c.2154A>C (p.Ala718=)
|
|
|
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu)
|
|
|
NM_178452.6(DNAAF1):c.2178G>A (p.Ter726=)
|
|
|
NM_178452.6(DNAAF1):c.218A>T (p.His73Leu)
|
|
|
NM_178452.6(DNAAF1):c.222C>T (p.Phe74=)
|
|
|
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr)
|
rs200440212
|
|
NM_178452.6(DNAAF1):c.230C>G (p.Pro77Arg)
|
|
|
NM_178452.6(DNAAF1):c.260+3A>G
|
|
|
NM_178452.6(DNAAF1):c.261-20A>G
|
|
|
NM_178452.6(DNAAF1):c.279G>A (p.Leu93=)
|
rs1466796208
|
|
NM_178452.6(DNAAF1):c.30del (p.Gly11fs)
|
|
|
NM_178452.6(DNAAF1):c.317del (p.Pro106fs)
|
|
|
NM_178452.6(DNAAF1):c.321A>G (p.Ala107=)
|
|
|
NM_178452.6(DNAAF1):c.327T>G (p.Asn109Lys)
|
rs149063283
|
|
NM_178452.6(DNAAF1):c.32G>C (p.Gly11Ala)
|
rs1441002883
|
|
NM_178452.6(DNAAF1):c.332C>A (p.Thr111Lys)
|
rs375812500
|
|
NM_178452.6(DNAAF1):c.333G>A (p.Thr111=)
|
|
|
NM_178452.6(DNAAF1):c.333G>C (p.Thr111=)
|
|
|
NM_178452.6(DNAAF1):c.352+15G>C
|
|
|
NM_178452.6(DNAAF1):c.352+9C>A
|
|
|
NM_178452.6(DNAAF1):c.353-19C>T
|
|
|
NM_178452.6(DNAAF1):c.353-5G>A
|
|
|
NM_178452.6(DNAAF1):c.361C>A (p.Arg121Ser)
|
rs368031148
|
|
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His)
|
rs34897947
|
|
NM_178452.6(DNAAF1):c.364A>G (p.Ile122Val)
|
|
|
NM_178452.6(DNAAF1):c.394C>T (p.Arg132Cys)
|
rs538582505
|
|
NM_178452.6(DNAAF1):c.395G>A (p.Arg132His)
|
|
|
NM_178452.6(DNAAF1):c.39A>C (p.Ala13=)
|
|
|
NM_178452.6(DNAAF1):c.416A>G (p.Asn139Ser)
|
|
|
NM_178452.6(DNAAF1):c.417T>C (p.Asn139=)
|
rs1597417751
|
|
NM_178452.6(DNAAF1):c.430A>G (p.Ile144Val)
|
|
|
NM_178452.6(DNAAF1):c.433G>A (p.Glu145Lys)
|
|
|
NM_178452.6(DNAAF1):c.438C>T (p.Asn146=)
|
rs2087328101
|
|
NM_178452.6(DNAAF1):c.442G>T (p.Glu148Ter)
|
|
|
NM_178452.6(DNAAF1):c.445G>C (p.Ala149Pro)
|
|
|
NM_178452.6(DNAAF1):c.462_465del (p.Cys155fs)
|
|
|
NM_178452.6(DNAAF1):c.468CTT[1] (p.Phe157del)
|
rs1555521110
|
|
NM_178452.6(DNAAF1):c.482A>G (p.Asn161Ser)
|
rs752043457
|
|
NM_178452.6(DNAAF1):c.489C>T (p.Leu163=)
|
rs1597418016
|
|
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)
|
|
|
NM_178452.6(DNAAF1):c.508dup (p.Glu170fs)
|
rs786205052
|
|
NM_178452.6(DNAAF1):c.522A>G (p.Lys174=)
|
|
|
NM_178452.6(DNAAF1):c.533T>C (p.Leu178Pro)
|
rs2087331937
|
|
NM_178452.6(DNAAF1):c.538C>G (p.Leu180Val)
|
|
|
NM_178452.6(DNAAF1):c.561C>G (p.Thr187=)
|
|
|
NM_178452.6(DNAAF1):c.574+11C>T
|
|
|
NM_178452.6(DNAAF1):c.575-18G>T
|
|
|
NM_178452.6(DNAAF1):c.575-20C>T
|
|
|
NM_178452.6(DNAAF1):c.58C>T (p.Gln20Ter)
|
|
|
NM_178452.6(DNAAF1):c.597A>G (p.Thr199=)
|
rs1597422367
|
|
NM_178452.6(DNAAF1):c.605T>C (p.Met202Thr)
|
rs2087389150
|
|
NM_178452.6(DNAAF1):c.620T>G (p.Leu207Arg)
|
rs1060502830
|
|
NM_178452.6(DNAAF1):c.649C>T (p.Gln217Ter)
|
|
|
NM_178452.6(DNAAF1):c.655T>C (p.Cys219Arg)
|
|
|
NM_178452.6(DNAAF1):c.679C>T (p.Leu227Phe)
|
|
|
NM_178452.6(DNAAF1):c.684G>A (p.Ser228=)
|
rs200109125
|
|
NM_178452.6(DNAAF1):c.684G>C (p.Ser228=)
|
rs200109125
|
|
NM_178452.6(DNAAF1):c.690C>T (p.Asn230=)
|
|
|
NM_178452.6(DNAAF1):c.712C>A (p.Leu238Met)
|
|
|
NM_178452.6(DNAAF1):c.714G>A (p.Leu238=)
|
rs928649220
|
|
NM_178452.6(DNAAF1):c.741+2T>G
|
|
|
NM_178452.6(DNAAF1):c.741+4AAAAAC[4]
|
|
|
NM_178452.6(DNAAF1):c.742-12G>A
|
|
|
NM_178452.6(DNAAF1):c.742-7C>G
|
rs2087610689
|
|
NM_178452.6(DNAAF1):c.742_743delinsAA (p.Arg248Asn)
|
rs2151234537
|
|
NM_178452.6(DNAAF1):c.749T>C (p.Leu250Pro)
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rs1555522543
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NM_178452.6(DNAAF1):c.754T>A (p.Leu252Met)
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|
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NM_178452.6(DNAAF1):c.765C>G (p.Asn255Lys)
|
rs373103805
|
|
NM_178452.6(DNAAF1):c.765C>T (p.Asn255=)
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NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter)
|
rs2087613070
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NM_178452.6(DNAAF1):c.794G>A (p.Arg265Lys)
|
rs867096947
|
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NM_178452.6(DNAAF1):c.863+6A>C
|
rs1303480013
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NM_178452.6(DNAAF1):c.863+8G>A
|
|
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NM_178452.6(DNAAF1):c.864-17_864-14del
|
rs141073777
|
|
NM_178452.6(DNAAF1):c.872C>T (p.Ala291Val)
|
rs745857720
|
|
NM_178452.6(DNAAF1):c.873G>A (p.Ala291=)
|
|
|
NM_178452.6(DNAAF1):c.880T>C (p.Trp294Arg)
|
|
|
NM_178452.6(DNAAF1):c.900A>C (p.Ala300=)
|
|
|
NM_178452.6(DNAAF1):c.922C>T (p.Gln308Ter)
|
rs372303284
|
|
NM_178452.6(DNAAF1):c.930G>C (p.Glu310Asp)
|
rs752852857
|
|
NM_178452.6(DNAAF1):c.934_940del (p.Arg312fs)
|
rs1233603821
|
|
NM_178452.6(DNAAF1):c.937G>A (p.Glu313Lys)
|
rs1567554737
|
|
NM_178452.6(DNAAF1):c.939G>A (p.Glu313=)
|
|
|
NM_178452.6(DNAAF1):c.93C>A (p.His31Gln)
|
rs780631154
|
|
NM_178452.6(DNAAF1):c.96G>C (p.Gly32=)
|
|
|
NM_178452.6(DNAAF1):c.985C>T (p.Gln329Ter)
|
|
|