NM_014845.6(FIG4):c.1948+3A>G
|
rs10499054
|
0.49269
|
NM_014845.6(FIG4):c.447-564T>C
|
rs6568602
|
0.46411
|
NM_014845.6(FIG4):c.*120C>T
|
rs1127775
|
0.35612
|
NM_014845.6(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771
|
0.34581
|
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
0.33924
|
NM_014845.6(FIG4):c.647-18C>A
|
rs2273752
|
0.33064
|
NM_014845.6(FIG4):c.1948+46C>A
|
rs9320315
|
0.23093
|
NM_014845.6(FIG4):c.*29G>A
|
rs10659
|
0.08648
|
NM_014845.6(FIG4):c.2377-19T>C
|
rs72944974
|
0.05800
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_014845.6(FIG4):c.67-7T>C
|
rs56378532
|
0.04073
|
NM_014845.6(FIG4):c.2377-20_2377-19insC
|
rs201752617
|
0.03507
|
NM_014845.6(FIG4):c.-120C>T
|
rs75045314
|
0.02248
|
NM_014845.6(FIG4):c.-121G>A
|
rs75509752
|
0.02164
|
NM_014845.5(FIG4):c.-182G>A
|
rs55873083
|
0.01220
|
NM_014845.6(FIG4):c.*7C>T
|
rs113946190
|
0.01145
|
NM_014845.6(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087
|
0.00891
|
NM_014845.6(FIG4):c.447-16G>T
|
rs200890189
|
0.00618
|
NM_014845.6(FIG4):c.66+10C>T
|
rs200063827
|
0.00462
|
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092
|
0.00411
|
NM_014845.6(FIG4):c.*14C>T
|
rs114136062
|
0.00408
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669
|
0.00275
|
NM_014845.6(FIG4):c.-132A>G
|
rs548471516
|
0.00150
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_014845.6(FIG4):c.627A>G (p.Leu209=)
|
rs140111406
|
0.00119
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_014845.6(FIG4):c.1584-8T>A
|
rs199522051
|
0.00086
|
NM_014845.6(FIG4):c.2377-18T>C
|
rs560214203
|
0.00056
|
NM_014845.6(FIG4):c.2459+5G>A
|
rs367944508
|
0.00038
|
NM_014845.6(FIG4):c.2459+14A>C
|
rs200078556
|
0.00032
|
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys)
|
rs138376077
|
0.00031
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_014845.6(FIG4):c.1751-16A>G
|
rs200778905
|
0.00026
|
NM_014845.6(FIG4):c.2460-8A>G
|
rs201965891
|
0.00022
|
NM_014845.6(FIG4):c.42G>A (p.Lys14=)
|
rs552856153
|
0.00022
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_014845.6(FIG4):c.1479C>G (p.Thr493=)
|
rs144072304
|
0.00021
|
NM_014845.6(FIG4):c.2235C>T (p.Ala745=)
|
rs144830399
|
0.00018
|
NM_014845.6(FIG4):c.328A>G (p.Ile110Val)
|
rs140331779
|
0.00018
|
NM_014845.6(FIG4):c.-138T>C
|
rs550585093
|
0.00016
|
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys)
|
rs201072058
|
0.00014
|
NM_014845.6(FIG4):c.-84A>G
|
rs764845399
|
0.00013
|
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)
|
rs540674198
|
0.00013
|
NM_014845.6(FIG4):c.1271+5A>G
|
rs374583399
|
0.00012
|
NM_014845.6(FIG4):c.1923G>A (p.Lys641=)
|
rs140078026
|
0.00012
|
NM_014845.6(FIG4):c.1305G>C (p.Val435=)
|
rs145227623
|
0.00011
|
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
0.00011
|
NM_014845.6(FIG4):c.102G>A (p.Thr34=)
|
rs145711919
|
0.00010
|
NM_014845.6(FIG4):c.2376+9G>A
|
rs374450869
|
0.00010
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_014845.6(FIG4):c.2459+7T>G
|
rs575271308
|
0.00009
|
NM_014845.6(FIG4):c.350C>T (p.Ala117Val)
|
rs551339249
|
0.00009
|
NM_014845.6(FIG4):c.717A>G (p.Lys239=)
|
rs750904354
|
0.00009
|
NM_014845.6(FIG4):c.-112G>A
|
rs757848529
|
0.00008
|
NM_014845.6(FIG4):c.101C>T (p.Thr34Met)
|
rs375691683
|
0.00008
|
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys)
|
rs143184413
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_014845.6(FIG4):c.272C>T (p.Ser91Leu)
|
rs753543659
|
0.00008
|
NM_014845.6(FIG4):c.918C>T (p.Cys306=)
|
rs369159531
|
0.00008
|
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928
|
0.00007
|
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
|
rs146689226
|
0.00007
|
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=)
|
rs765557108
|
0.00007
|
NM_014845.6(FIG4):c.498-13A>G
|
rs199891240
|
0.00007
|
NM_014845.6(FIG4):c.66+13dup
|
rs755637236
|
0.00007
|
NM_014845.6(FIG4):c.1187C>G (p.Ala396Gly)
|
rs758599286
|
0.00006
|
NM_014845.6(FIG4):c.1544T>C (p.Ile515Thr)
|
rs370249754
|
0.00006
|
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys)
|
rs770831509
|
0.00006
|
NM_014845.6(FIG4):c.1890-4A>G
|
rs376586317
|
0.00006
|
NM_014845.6(FIG4):c.2052C>T (p.Ser684=)
|
rs183958565
|
0.00006
|
NM_014845.6(FIG4):c.2154A>G (p.Pro718=)
|
rs201138266
|
0.00006
|
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe)
|
rs141116831
|
0.00006
|
NM_014845.6(FIG4):c.54T>C (p.Tyr18=)
|
rs746307320
|
0.00006
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
0.00006
|
NM_014845.6(FIG4):c.66+8C>T
|
rs768404941
|
0.00006
|
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)
|
rs774294963
|
0.00006
|
NM_014845.6(FIG4):c.923C>T (p.Ala308Val)
|
rs180689715
|
0.00006
|
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871
|
0.00005
|
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
|
rs199651811
|
0.00005
|
NM_014845.6(FIG4):c.1435-8C>T
|
rs754607430
|
0.00005
|
NM_014845.6(FIG4):c.1584-19C>T
|
rs1052424090
|
0.00005
|
NM_014845.6(FIG4):c.1890-17T>A
|
rs201890605
|
0.00005
|
NM_014845.6(FIG4):c.2096+3A>G
|
rs374223402
|
0.00005
|
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)
|
rs372846619
|
0.00005
|
NM_014845.6(FIG4):c.2376+8G>A
|
rs779457828
|
0.00005
|
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys)
|
rs762687855
|
0.00005
|
NM_014845.6(FIG4):c.584A>T (p.Gln195Leu)
|
rs749696803
|
0.00005
|
NM_014845.6(FIG4):c.669G>A (p.Glu223=)
|
rs764559318
|
0.00005
|
NM_014845.6(FIG4):c.829A>T (p.Ser277Cys)
|
rs892208077
|
0.00005
|
NM_014845.6(FIG4):c.1040-4T>C
|
rs374343214
|
0.00004
|
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys)
|
rs772677048
|
0.00004
|
NM_014845.6(FIG4):c.1158T>C (p.His386=)
|
rs370557879
|
0.00004
|
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu)
|
rs769415369
|
0.00004
|
NM_014845.6(FIG4):c.1386A>G (p.Glu462=)
|
rs764699770
|
0.00004
|
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg)
|
rs201742496
|
0.00004
|
NM_014845.6(FIG4):c.15C>T (p.Ala5=)
|
rs917052197
|
0.00004
|
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys)
|
rs749672655
|
0.00004
|
NM_014845.6(FIG4):c.2080A>G (p.Met694Val)
|
rs143531641
|
0.00004
|
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys)
|
rs764799053
|
0.00004
|
NM_014845.6(FIG4):c.2147G>A (p.Arg716His)
|
rs758496638
|
0.00004
|
NM_014845.6(FIG4):c.2180+20C>T
|
rs372359387
|
0.00004
|
NM_014845.6(FIG4):c.2199A>G (p.Glu733=)
|
rs537464083
|
0.00004
|
NM_014845.6(FIG4):c.2323C>T (p.Arg775Cys)
|
rs745511182
|
0.00004
|
NM_014845.6(FIG4):c.2352A>G (p.Ala784=)
|
rs765278422
|
0.00004
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_014845.6(FIG4):c.266C>T (p.Ala89Val)
|
rs763532414
|
0.00004
|
NM_014845.6(FIG4):c.2704A>G (p.Ile902Val)
|
rs143685038
|
0.00004
|
NM_014845.6(FIG4):c.33G>C (p.Ser11=)
|
rs527523781
|
0.00004
|
NM_014845.6(FIG4):c.422G>A (p.Arg141Gln)
|
rs762663195
|
0.00004
|
NM_014845.6(FIG4):c.446+4T>A
|
rs956953729
|
0.00004
|
NM_014845.6(FIG4):c.446+5G>C
|
rs370857139
|
0.00004
|
NM_014845.6(FIG4):c.794G>A (p.Arg265Gln)
|
rs768713956
|
0.00004
|
NM_014845.5(FIG4):c.-152C>A
|
rs1408966015
|
0.00003
|
NM_014845.6(FIG4):c.136C>T (p.Pro46Ser)
|
rs1260601343
|
0.00003
|
NM_014845.6(FIG4):c.14C>T (p.Ala5Val)
|
rs915749340
|
0.00003
|
NM_014845.6(FIG4):c.1949-7C>A
|
rs758167651
|
0.00003
|
NM_014845.6(FIG4):c.1990T>C (p.Phe664Leu)
|
rs370602258
|
0.00003
|
NM_014845.6(FIG4):c.2035C>T (p.Arg679Trp)
|
rs188910818
|
0.00003
|
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys)
|
rs139235893
|
0.00003
|
NM_014845.6(FIG4):c.2232C>T (p.Ser744=)
|
rs760578430
|
0.00003
|
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)
|
rs377017892
|
0.00003
|
NM_014845.6(FIG4):c.2376+5G>A
|
rs528952794
|
0.00003
|
NM_014845.6(FIG4):c.2388A>G (p.Gln796=)
|
rs1439788451
|
0.00003
|
NM_014845.6(FIG4):c.243A>G (p.Lys81=)
|
rs200257799
|
0.00003
|
NM_014845.6(FIG4):c.2459+1G>A
|
rs747768373
|
0.00003
|
NM_014845.6(FIG4):c.2547-11A>G
|
rs745613994
|
0.00003
|
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu)
|
rs200970494
|
0.00003
|
NM_014845.6(FIG4):c.351G>A (p.Ala117=)
|
rs375963892
|
0.00003
|
NM_014845.6(FIG4):c.382G>A (p.Glu128Lys)
|
rs769125243
|
0.00003
|
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp)
|
rs750102036
|
0.00003
|
NM_014845.6(FIG4):c.815T>C (p.Ile272Thr)
|
rs765737780
|
0.00003
|
NM_014845.6(FIG4):c.872G>A (p.Cys291Tyr)
|
rs766829595
|
0.00003
|
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn)
|
rs573441014
|
0.00003
|
NM_014845.6(FIG4):c.107A>G (p.Tyr36Cys)
|
rs760770423
|
0.00002
|
NM_014845.6(FIG4):c.1313A>G (p.Glu438Gly)
|
rs535554973
|
0.00002
|
NM_014845.6(FIG4):c.1376G>A (p.Arg459Gln)
|
rs141309562
|
0.00002
|
NM_014845.6(FIG4):c.1427G>A (p.Arg476His)
|
rs192823053
|
0.00002
|
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys)
|
rs747284213
|
0.00002
|
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
|
rs776928002
|
0.00002
|
NM_014845.6(FIG4):c.1620C>T (p.Thr540=)
|
rs746367416
|
0.00002
|
NM_014845.6(FIG4):c.1728A>G (p.Arg576=)
|
rs1006163300
|
0.00002
|
NM_014845.6(FIG4):c.1769C>T (p.Ser590Phe)
|
rs773166475
|
0.00002
|
NM_014845.6(FIG4):c.1809G>A (p.Gly603=)
|
rs148280593
|
0.00002
|
NM_014845.6(FIG4):c.1932A>G (p.Pro644=)
|
rs767919652
|
0.00002
|
NM_014845.6(FIG4):c.1949-15C>T
|
rs778444771
|
0.00002
|
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala)
|
rs766031746
|
0.00002
|
NM_014845.6(FIG4):c.2377-10T>A
|
rs9481005
|
0.00002
|
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys)
|
rs370293982
|
0.00002
|
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val)
|
rs781056036
|
0.00002
|
NM_014845.6(FIG4):c.2547-4A>G
|
rs886060985
|
0.00002
|
NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly)
|
rs533419433
|
0.00002
|
NM_014845.6(FIG4):c.2661dup (p.Gln888fs)
|
rs778839285
|
0.00002
|
NM_014845.6(FIG4):c.2668C>T (p.Leu890=)
|
rs922260214
|
0.00002
|
NM_014845.6(FIG4):c.2685C>T (p.Ser895=)
|
rs764459799
|
0.00002
|
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
|
rs764958115
|
0.00002
|
NM_014845.6(FIG4):c.2705T>C (p.Ile902Thr)
|
rs1162967341
|
0.00002
|
NM_014845.6(FIG4):c.289+17C>T
|
rs368282150
|
0.00002
|
NM_014845.6(FIG4):c.321T>G (p.Ile107Met)
|
rs372854425
|
0.00002
|
NM_014845.6(FIG4):c.366T>C (p.His122=)
|
rs772376305
|
0.00002
|
NM_014845.6(FIG4):c.447-14_447-13insG
|
rs1312654340
|
0.00002
|
NM_014845.6(FIG4):c.447-19T>C
|
rs1562651409
|
0.00002
|
NM_014845.6(FIG4):c.469G>A (p.Val157Met)
|
rs1455052760
|
0.00002
|
NM_014845.6(FIG4):c.497+9G>A
|
rs759409330
|
0.00002
|
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)
|
rs587777713
|
0.00002
|
NM_014845.6(FIG4):c.645C>T (p.Ser215=)
|
rs751619327
|
0.00002
|
NM_014845.6(FIG4):c.731G>A (p.Arg244His)
|
rs768175169
|
0.00002
|
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile)
|
rs762123072
|
0.00002
|
NM_014845.6(FIG4):c.877-2A>C
|
rs143956557
|
0.00002
|
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)
|
rs587777714
|
0.00002
|
NM_014845.6(FIG4):c.974G>C (p.Arg325Thr)
|
rs1060501400
|
0.00002
|
NM_014845.6(FIG4):c.-124A>G
|
rs544958043
|
0.00001
|
NM_014845.6(FIG4):c.-134C>G
|
rs560811735
|
0.00001
|
NM_014845.6(FIG4):c.1039+3G>A
|
rs760007124
|
0.00001
|
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631
|
0.00001
|
NM_014845.6(FIG4):c.1051G>C (p.Asp351His)
|
rs879253941
|
0.00001
|
NM_014845.6(FIG4):c.1064A>G (p.His355Arg)
|
rs772356514
|
0.00001
|
NM_014845.6(FIG4):c.110G>A (p.Arg37His)
|
rs192324110
|
0.00001
|
NM_014845.6(FIG4):c.1116C>T (p.Ile372=)
|
rs754932535
|
0.00001
|
NM_014845.6(FIG4):c.1137+14A>G
|
rs1776398818
|
0.00001
|
NM_014845.6(FIG4):c.1137+5G>T
|
rs746766125
|
0.00001
|
NM_014845.6(FIG4):c.114C>T (p.Val38=)
|
rs765676819
|
0.00001
|
NM_014845.6(FIG4):c.1165A>G (p.Ile389Val)
|
rs765216035
|
0.00001
|
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser)
|
rs373630745
|
0.00001
|
NM_014845.6(FIG4):c.121A>G (p.Ile41Val)
|
rs1775389277
|
0.00001
|
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala)
|
rs142463699
|
0.00001
|
NM_014845.6(FIG4):c.125A>G (p.Asp42Gly)
|
rs780739049
|
0.00001
|
NM_014845.6(FIG4):c.1271+7G>A
|
rs1158557424
|
0.00001
|
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
|
rs1255518113
|
0.00001
|
NM_014845.6(FIG4):c.1338C>G (p.Phe446Leu)
|
rs1353768172
|
0.00001
|
NM_014845.6(FIG4):c.1350C>G (p.Arg450=)
|
rs763035100
|
0.00001
|
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp)
|
rs1220742669
|
0.00001
|
NM_014845.6(FIG4):c.1388+1G>A
|
rs754338522
|
0.00001
|
NM_014845.6(FIG4):c.1389-4A>G
|
rs1234617040
|
0.00001
|
NM_014845.6(FIG4):c.1389-5C>T
|
rs377752443
|
0.00001
|
NM_014845.6(FIG4):c.1432C>G (p.Gln478Glu)
|
rs1331703765
|
0.00001
|
NM_014845.6(FIG4):c.1434+16C>T
|
rs772128948
|
0.00001
|
NM_014845.6(FIG4):c.1434+7A>C
|
rs773157476
|
0.00001
|
NM_014845.6(FIG4):c.1434G>A (p.Gln478=)
|
rs1430381590
|
0.00001
|
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter)
|
rs1228223508
|
0.00001
|
NM_014845.6(FIG4):c.1490A>T (p.Gln497Leu)
|
rs748473120
|
0.00001
|
NM_014845.6(FIG4):c.1525C>T (p.Leu509=)
|
rs146488614
|
0.00001
|
NM_014845.6(FIG4):c.1527G>A (p.Leu509=)
|
rs1282869999
|
0.00001
|
NM_014845.6(FIG4):c.1555A>G (p.Asn519Asp)
|
rs374129146
|
0.00001
|
NM_014845.6(FIG4):c.155T>C (p.Ile52Thr)
|
rs754533235
|
0.00001
|
NM_014845.6(FIG4):c.1584-16G>A
|
rs1223371250
|
0.00001
|
NM_014845.6(FIG4):c.1584-9T>C
|
rs748433013
|
0.00001
|
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter)
|
rs776090013
|
0.00001
|
NM_014845.6(FIG4):c.1750+11A>C
|
rs766372971
|
0.00001
|
NM_014845.6(FIG4):c.1750+3A>G
|
rs758390500
|
0.00001
|
NM_014845.6(FIG4):c.1755C>T (p.Ala585=)
|
rs377111248
|
0.00001
|
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr)
|
rs751399063
|
0.00001
|
NM_014845.6(FIG4):c.180A>G (p.Gln60=)
|
rs376730932
|
0.00001
|
NM_014845.6(FIG4):c.1812A>G (p.Lys604=)
|
rs1399930708
|
0.00001
|
NM_014845.6(FIG4):c.1827G>A (p.Glu609=)
|
rs756085095
|
0.00001
|
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala)
|
rs758695444
|
0.00001
|
NM_014845.6(FIG4):c.1836A>G (p.Thr612=)
|
rs1267198458
|
0.00001
|
NM_014845.6(FIG4):c.1838A>G (p.Asp613Gly)
|
rs1243225247
|
0.00001
|
NM_014845.6(FIG4):c.1890-18T>A
|
rs769375338
|
0.00001
|
NM_014845.6(FIG4):c.1949-10T>G
|
rs896444437
|
0.00001
|
NM_014845.6(FIG4):c.1A>C (p.Met1Leu)
|
rs1490935299
|
0.00001
|
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)
|
rs774499394
|
0.00001
|
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
|
rs745860370
|
0.00001
|
NM_014845.6(FIG4):c.2036G>A (p.Arg679Gln)
|
rs192447225
|
0.00001
|
NM_014845.6(FIG4):c.2042A>G (p.Tyr681Cys)
|
rs554382573
|
0.00001
|
NM_014845.6(FIG4):c.2069T>C (p.Phe690Ser)
|
rs1237449502
|
0.00001
|
NM_014845.6(FIG4):c.2085A>C (p.Thr695=)
|
rs1197412787
|
0.00001
|
NM_014845.6(FIG4):c.2096+16T>A
|
rs779641739
|
0.00001
|
NM_014845.6(FIG4):c.2115C>T (p.Thr705=)
|
rs201271644
|
0.00001
|
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile)
|
rs754830354
|
0.00001
|
NM_014845.6(FIG4):c.2118T>G (p.Val706=)
|
rs780930471
|
0.00001
|
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter)
|
rs774799167
|
0.00001
|
NM_014845.6(FIG4):c.2215C>A (p.Arg739=)
|
rs773877685
|
0.00001
|
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)
|
rs1274229885
|
0.00001
|
NM_014845.6(FIG4):c.2238G>A (p.Pro746=)
|
rs753867543
|
0.00001
|
NM_014845.6(FIG4):c.2240C>T (p.Pro747Leu)
|
rs1266127215
|
0.00001
|
NM_014845.6(FIG4):c.2250C>T (p.Ser750=)
|
rs751694228
|
0.00001
|
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp)
|
rs375960403
|
0.00001
|
NM_014845.6(FIG4):c.2289G>A (p.Gly763=)
|
rs756539176
|
0.00001
|
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp)
|
rs552937585
|
0.00001
|
NM_014845.6(FIG4):c.2308G>A (p.Gly770Ser)
|
rs779329699
|
0.00001
|
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
|
rs745397940
|
0.00001
|
NM_014845.6(FIG4):c.2334C>T (p.Pro778=)
|
rs1183428109
|
0.00001
|
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg)
|
rs373590484
|
0.00001
|
NM_014845.6(FIG4):c.2382G>A (p.Val794=)
|
rs1201567620
|
0.00001
|
NM_014845.6(FIG4):c.2403A>G (p.Leu801=)
|
rs1048137431
|
0.00001
|
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)
|
rs375414729
|
0.00001
|
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg)
|
rs774546266
|
0.00001
|
NM_014845.6(FIG4):c.2459+6_2459+8dup
|
rs1562687535
|
0.00001
|
NM_014845.6(FIG4):c.2460-17T>C
|
rs201533992
|
0.00001
|
NM_014845.6(FIG4):c.2460-2A>G
|
rs1458183004
|
0.00001
|
NM_014845.6(FIG4):c.2464G>C (p.Val822Leu)
|
rs1208125100
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014845.6(FIG4):c.2469G>T (p.Gln823His)
|
rs768773104
|
0.00001
|
NM_014845.6(FIG4):c.2470C>T (p.Leu824=)
|
rs1290598433
|
0.00001
|
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu)
|
rs768384237
|
0.00001
|
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
|
rs532895784
|
0.00001
|
NM_014845.6(FIG4):c.2546+11G>T
|
rs1051662160
|
0.00001
|
NM_014845.6(FIG4):c.2547-12C>T
|
rs778747845
|
0.00001
|
NM_014845.6(FIG4):c.2547-1G>A
|
rs769858739
|
0.00001
|
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu)
|
rs201375273
|
0.00001
|
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu)
|
rs774805375
|
0.00001
|
NM_014845.6(FIG4):c.2617A>C (p.Thr873Pro)
|
rs199765196
|
0.00001
|
NM_014845.6(FIG4):c.2640C>T (p.Ile880=)
|
rs769813337
|
0.00001
|
NM_014845.6(FIG4):c.2654G>T (p.Gly885Val)
|
rs550030053
|
0.00001
|
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr)
|
rs780643086
|
0.00001
|
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys)
|
rs776236607
|
0.00001
|
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter)
|
rs750069994
|
0.00001
|
NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys)
|
rs754970037
|
0.00001
|
NM_014845.6(FIG4):c.289+10C>A
|
rs778732368
|
0.00001
|
NM_014845.6(FIG4):c.290-2A>T
|
rs587777715
|
0.00001
|
NM_014845.6(FIG4):c.300G>A (p.Arg100=)
|
rs368831195
|
0.00001
|
NM_014845.6(FIG4):c.318T>C (p.Tyr106=)
|
rs1417300017
|
0.00001
|
NM_014845.6(FIG4):c.324G>C (p.Val108=)
|
rs1371576818
|
0.00001
|
NM_014845.6(FIG4):c.353A>G (p.Asp118Gly)
|
rs771093157
|
0.00001
|
NM_014845.6(FIG4):c.374A>G (p.Tyr125Cys)
|
rs145466148
|
0.00001
|
NM_014845.6(FIG4):c.396G>A (p.Met132Ile)
|
rs1775847696
|
0.00001
|
NM_014845.6(FIG4):c.477A>G (p.Leu159=)
|
rs769256280
|
0.00001
|
NM_014845.6(FIG4):c.497+14T>G
|
rs756070677
|
0.00001
|
NM_014845.6(FIG4):c.521C>T (p.Ser174Leu)
|
rs775391378
|
0.00001
|
NM_014845.6(FIG4):c.52T>C (p.Tyr18His)
|
rs1774396046
|
0.00001
|
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter)
|
rs760575768
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln)
|
rs781588508
|
0.00001
|
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys)
|
rs370115339
|
0.00001
|
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys)
|
rs770528195
|
0.00001
|
NM_014845.6(FIG4):c.641G>A (p.Gly214Glu)
|
rs1776128339
|
0.00001
|
NM_014845.6(FIG4):c.66+18G>A
|
rs1381893795
|
0.00001
|
NM_014845.6(FIG4):c.685G>A (p.Val229Ile)
|
rs779593250
|
0.00001
|
NM_014845.6(FIG4):c.764G>A (p.Cys255Tyr)
|
rs1776227536
|
0.00001
|
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr)
|
rs1045259801
|
0.00001
|
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys)
|
rs370148297
|
0.00001
|
NM_014845.6(FIG4):c.80T>C (p.Val27Ala)
|
rs769687105
|
0.00001
|
NM_014845.6(FIG4):c.827C>T (p.Ser276Phe)
|
rs1311885951
|
0.00001
|
NM_014845.6(FIG4):c.876+8G>A
|
rs923581334
|
0.00001
|
NM_014845.6(FIG4):c.877-8C>G
|
rs1279902930
|
0.00001
|
NM_014845.6(FIG4):c.885T>A (p.Val295=)
|
rs551491783
|
0.00001
|
NM_014845.6(FIG4):c.909A>G (p.Gln303=)
|
rs1173352807
|
0.00001
|
NM_014845.6(FIG4):c.915C>G (p.Leu305=)
|
rs375022448
|
0.00001
|
NC_000006.11:g.(?_110012639)_(110064995_?)del
|
|
|
NC_000006.11:g.(?_110012639)_(110098283_?)dup
|
|
|
NC_000006.11:g.(?_110048292)_(110053276_?)del
|
|
|
NC_000006.11:g.(?_110048292)_(110098283_?)del
|
|
|
NC_000006.11:g.(?_110081433)_(110088118_?)dup
|
|
|
NC_000006.11:g.(?_110106153)_(110113887_?)del
|
|
|
NC_000006.11:g.(?_110106153)_(110146468_?)dup
|
|
|
NC_000006.11:g.(?_110117948)_(110118074_?)dup
|
|
|
NC_000006.12:g.(?_109691416)_(109691521_?)del
|
|
|
NC_000006.12:g.(?_109741424)_(109743792_?)del
|
|
|
NC_000006.12:g.(?_109825078)_(109825275_?)del
|
|
|
NM_014845.6(FIG4):c.*150_*151del
|
rs886060986
|
|
NM_014845.6(FIG4):c.1012A>G (p.Thr338Ala)
|
|
|
NM_014845.6(FIG4):c.1012A>T (p.Thr338Ser)
|
rs771265385
|
|
NM_014845.6(FIG4):c.1015A>G (p.Met339Val)
|
rs2128386978
|
|
NM_014845.6(FIG4):c.1039+14T>C
|
|
|
NM_014845.6(FIG4):c.1039+5G>T
|
|
|
NM_014845.6(FIG4):c.1039+6T>C
|
|
|
NM_014845.6(FIG4):c.1039+7G>A
|
|
|
NM_014845.6(FIG4):c.1039+8G>A
|
rs2128386984
|
|
NM_014845.6(FIG4):c.1040-16C>G
|
|
|
NM_014845.6(FIG4):c.1040-17T>C
|
rs1476656802
|
|
NM_014845.6(FIG4):c.1040-18A>G
|
|
|
NM_014845.6(FIG4):c.1040-1G>A
|
|
|
NM_014845.6(FIG4):c.1065T>C (p.His355=)
|
|
|
NM_014845.6(FIG4):c.1066G>A (p.Val356Met)
|
|
|
NM_014845.6(FIG4):c.1071T>C (p.Ala357=)
|
|
|
NM_014845.6(FIG4):c.1085A>T (p.Asp362Val)
|
rs1776394936
|
|
NM_014845.6(FIG4):c.1090A>C (p.Met364Leu)
|
rs2295837
|
|
NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter)
|
rs2128387076
|
|
NM_014845.6(FIG4):c.1097A>G (p.Gln366Arg)
|
|
|
NM_014845.6(FIG4):c.1101G>T (p.Arg367Ser)
|
|
|
NM_014845.6(FIG4):c.1112C>G (p.Pro371Arg)
|
rs2128387082
|
|
NM_014845.6(FIG4):c.1116C>G (p.Ile372Met)
|
rs754932535
|
|
NM_014845.6(FIG4):c.112G>A (p.Val38Ile)
|
rs761940298
|
|
NM_014845.6(FIG4):c.1134del (p.Lys379fs)
|
|
|
NM_014845.6(FIG4):c.1137+12T>G
|
|
|
NM_014845.6(FIG4):c.1137+8G>T
|
rs779200387
|
|
NM_014845.6(FIG4):c.1138-18G>A
|
|
|
NM_014845.6(FIG4):c.1138-1G>A
|
|
|
NM_014845.6(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer)
|
rs1583695317
|
|
NM_014845.6(FIG4):c.1149_1150delinsT (p.Lys383fs)
|
rs1583695328
|
|
NM_014845.6(FIG4):c.1163G>T (p.Arg388Ile)
|
rs2128391017
|
|
NM_014845.6(FIG4):c.117G>A (p.Leu39=)
|
|
|
NM_014845.6(FIG4):c.1181TTG[1] (p.Val395del)
|
rs1777062850
|
|
NM_014845.6(FIG4):c.1187C>T (p.Ala396Val)
|
rs758599286
|
|
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys)
|
rs755232396
|
|
NM_014845.6(FIG4):c.1205del (p.Asn402fs)
|
rs1554303800
|
|
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)
|
rs879253926
|
|
NM_014845.6(FIG4):c.1209A>G (p.Gln403=)
|
|
|
NM_014845.6(FIG4):c.120G>T (p.Lys40Asn)
|
rs1346518731
|
|
NM_014845.6(FIG4):c.1215G>A (p.Leu405=)
|
|
|
NM_014845.6(FIG4):c.1221T>C (p.Pro407=)
|
|
|
NM_014845.6(FIG4):c.1224G>T (p.Glu408Asp)
|
|
|
NM_014845.6(FIG4):c.1225C>A (p.His409Asn)
|
rs748995164
|
|
NM_014845.6(FIG4):c.1225C>T (p.His409Tyr)
|
rs748995164
|
|
NM_014845.6(FIG4):c.1227del (p.His409fs)
|
|
|
NM_014845.6(FIG4):c.1231A>G (p.Ile411Val)
|
|
|
NM_014845.6(FIG4):c.1232T>C (p.Ile411Thr)
|
|
|
NM_014845.6(FIG4):c.1260G>A (p.Lys420=)
|
|
|
NM_014845.6(FIG4):c.1270A>G (p.Ser424Gly)
|
rs1777066450
|
|
NM_014845.6(FIG4):c.1271+1G>A
|
|
|
NM_014845.6(FIG4):c.1271+9T>C
|
rs1336280554
|
|
NM_014845.6(FIG4):c.1272-10C>G
|
rs201293291
|
|
NM_014845.6(FIG4):c.1272-10C>T
|
rs201293291
|
|
NM_014845.6(FIG4):c.1272-14C>T
|
|
|
NM_014845.6(FIG4):c.1272-20A>G
|
|
|
NM_014845.6(FIG4):c.1272-3C>T
|
|
|
NM_014845.6(FIG4):c.1272-8C>T
|
rs1583697467
|
|
NM_014845.6(FIG4):c.1274A>G (p.Lys425Arg)
|
rs2128391428
|
|
NM_014845.6(FIG4):c.1278G>A (p.Leu426=)
|
|
|
NM_014845.6(FIG4):c.1287T>A (p.Val429=)
|
|
|
NM_014845.6(FIG4):c.1290T>C (p.Leu430=)
|
|
|
NM_014845.6(FIG4):c.1297C>T (p.Leu433=)
|
|
|
NM_014845.6(FIG4):c.1312G>A (p.Glu438Lys)
|
rs2128391437
|
|
NM_014845.6(FIG4):c.1316G>A (p.Ser439Asn)
|
|
|
NM_014845.6(FIG4):c.131C>T (p.Thr44Ile)
|
rs375629140
|
|
NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter)
|
rs2128391439
|
|
NM_014845.6(FIG4):c.132A>G (p.Thr44=)
|
rs553864727
|
|
NM_014845.6(FIG4):c.1349G>A (p.Arg450His)
|
rs188547769
|
|
NM_014845.6(FIG4):c.1349G>T (p.Arg450Leu)
|
rs188547769
|
|
NM_014845.6(FIG4):c.1355A>G (p.Asp452Gly)
|
rs1777129902
|
|
NM_014845.6(FIG4):c.1363T>G (p.Cys455Gly)
|
rs1012991465
|
|
NM_014845.6(FIG4):c.1373dup (p.Leu458fs)
|
rs770043095
|
|
NM_014845.6(FIG4):c.1374G>A (p.Leu458=)
|
|
|
NM_014845.6(FIG4):c.1377G>T (p.Arg459=)
|
rs2128391467
|
|
NM_014845.6(FIG4):c.137C>G (p.Pro46Arg)
|
rs1562642404
|
|
NM_014845.6(FIG4):c.1380A>G (p.Pro460=)
|
|
|
NM_014845.6(FIG4):c.1388+10G>C
|
|
|
NM_014845.6(FIG4):c.1388+5G>T
|
rs200730266
|
|
NM_014845.6(FIG4):c.1388+7A>G
|
|
|
NM_014845.6(FIG4):c.1388+8T>A
|
rs1255543487
|
|
NM_014845.6(FIG4):c.1389-15T>C
|
|
|
NM_014845.6(FIG4):c.1389-18G>A
|
|
|
NM_014845.6(FIG4):c.1389-19T>G
|
|
|
NM_014845.6(FIG4):c.138A>C (p.Pro46=)
|
|
|
NM_014845.6(FIG4):c.1410T>C (p.Cys470=)
|
|
|
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs)
|
rs2128391901
|
|
NM_014845.6(FIG4):c.1424G>A (p.Gly475Asp)
|
rs1777192183
|
|
NM_014845.6(FIG4):c.1428C>G (p.Arg476=)
|
|
|
NM_014845.6(FIG4):c.1434+18A>G
|
|
|
NM_014845.6(FIG4):c.1435-4T>G
|
|
|
NM_014845.6(FIG4):c.1435-6C>G
|
|
|
NM_014845.6(FIG4):c.1435A>G (p.Thr479Ala)
|
|
|
NM_014845.6(FIG4):c.1443C>T (p.Ile481=)
|
rs1583701662
|
|
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs)
|
rs2128392205
|
|
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
|
|
|
NM_014845.6(FIG4):c.1504A>G (p.Lys502Glu)
|
|
|
NM_014845.6(FIG4):c.1521T>C (p.Tyr507=)
|
|
|
NM_014845.6(FIG4):c.1538del (p.Gly513fs)
|
rs1777242231
|
|
NM_014845.6(FIG4):c.1545T>A (p.Ile515=)
|
|
|
NM_014845.6(FIG4):c.1548C>G (p.Asp516Glu)
|
|
|
NM_014845.6(FIG4):c.1551A>G (p.Lys517=)
|
|
|
NM_014845.6(FIG4):c.1557T>C (p.Asn519=)
|
|
|
NM_014845.6(FIG4):c.1557T>G (p.Asn519Lys)
|
|
|
NM_014845.6(FIG4):c.156del (p.Ile52fs)
|
|
|
NM_014845.6(FIG4):c.1571C>T (p.Thr524Ile)
|
|
|
NM_014845.6(FIG4):c.1574A>G (p.Asp525Gly)
|
|
|
NM_014845.6(FIG4):c.157G>A (p.Asp53Asn)
|
rs121908290
|
|
NM_014845.6(FIG4):c.1583+16dup
|
rs769229381
|
|
NM_014845.6(FIG4):c.1583+20A>C
|
rs377162452
|
|
NM_014845.6(FIG4):c.1583+20A>G
|
rs377162452
|
|
NM_014845.6(FIG4):c.1583+3A>G
|
rs866431185
|
|
NM_014845.6(FIG4):c.1583+7C>T
|
|
|
NM_014845.6(FIG4):c.1584-10C>T
|
|
|
NM_014845.6(FIG4):c.1584-10del
|
|
|
NM_014845.6(FIG4):c.1584-14T>G
|
|
|
NM_014845.6(FIG4):c.1584-18G>A
|
|
|
NM_014845.6(FIG4):c.1584-1G>T
|
|
|
NM_014845.6(FIG4):c.1584-3T>C
|
|
|
NM_014845.6(FIG4):c.1585T>C (p.Leu529=)
|
|
|
NM_014845.6(FIG4):c.165+10C>T
|
|
|
NM_014845.6(FIG4):c.165+17C>T
|
rs1390100492
|
|
NM_014845.6(FIG4):c.165+2T>C
|
|
|
NM_014845.6(FIG4):c.165+2T>G
|
|
|
NM_014845.6(FIG4):c.165+8T>C
|
rs1775391813
|
|
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro)
|
rs1422048624
|
|
NM_014845.6(FIG4):c.166-10T>C
|
|
|
NM_014845.6(FIG4):c.166-11C>G
|
rs200978101
|
|
NM_014845.6(FIG4):c.166-16A>T
|
|
|
NM_014845.6(FIG4):c.166-7T>C
|
rs2128381583
|
|
NM_014845.6(FIG4):c.1666dup (p.Thr556fs)
|
rs772320287
|
|
NM_014845.6(FIG4):c.1679T>C (p.Ile560Thr)
|
|
|
NM_014845.6(FIG4):c.1686A>G (p.Pro562=)
|
|
|
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter)
|
rs2128392620
|
|
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser)
|
rs868101103
|
|
NM_014845.6(FIG4):c.1708A>G (p.Ile570Val)
|
|
|
NM_014845.6(FIG4):c.170T>A (p.Val57Asp)
|
rs1775432556
|
|
NM_014845.6(FIG4):c.1710C>T (p.Ile570=)
|
|
|
NM_014845.6(FIG4):c.1712T>G (p.Met571Arg)
|
rs2128392626
|
|
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
|
|
|
NM_014845.6(FIG4):c.1731T>C (p.Tyr577=)
|
|
|
NM_014845.6(FIG4):c.1734C>T (p.Tyr578=)
|
rs1224727049
|
|
NM_014845.6(FIG4):c.1740T>C (p.Asn580=)
|
rs1554304608
|
|
NM_014845.6(FIG4):c.1749_1750+7del
|
rs1777296419
|
|
NM_014845.6(FIG4):c.1750+1del
|
rs764770160
|
|
NM_014845.6(FIG4):c.1751-17T>C
|
|
|
NM_014845.6(FIG4):c.1752T>A (p.Asp584Glu)
|
rs1060501402
|
|
NM_014845.6(FIG4):c.1758T>C (p.Asp586=)
|
|
|
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala)
|
rs748869342
|
|
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter)
|
rs2128394568
|
|
NM_014845.6(FIG4):c.1764A>G (p.Gln588=)
|
|
|
NM_014845.6(FIG4):c.1765G>C (p.Asp589His)
|
rs1777637029
|
|
NM_014845.6(FIG4):c.1779C>T (p.Leu593=)
|
|
|
NM_014845.6(FIG4):c.177T>G (p.Thr59=)
|
|
|
NM_014845.6(FIG4):c.1799C>T (p.Pro600Leu)
|
|
|
NM_014845.6(FIG4):c.1801A>G (p.Thr601Ala)
|
rs986837200
|
|
NM_014845.6(FIG4):c.1802C>T (p.Thr601Ile)
|
rs1777638670
|
|
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu)
|
rs754127221
|
|
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
|
|
|
NM_014845.6(FIG4):c.1823G>T (p.Trp608Leu)
|
rs1375864580
|
|
NM_014845.6(FIG4):c.182A>G (p.Gln61Arg)
|
rs1775433375
|
|
NM_014845.6(FIG4):c.183A>G (p.Gln61=)
|
rs1775433473
|
|
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)
|
|
|
NM_014845.6(FIG4):c.1870C>T (p.Leu624Phe)
|
rs1777642023
|
|
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu)
|
rs772937400
|
|
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala)
|
rs762859144
|
|
NM_014845.6(FIG4):c.1885A>C (p.Arg629=)
|
|
|
NM_014845.6(FIG4):c.1887A>C (p.Arg629Ser)
|
rs1399283870
|
|
NM_014845.6(FIG4):c.1889+6_1889+11dup
|
rs762389374
|
|
NM_014845.6(FIG4):c.1889+9C>T
|
rs1777643262
|
|
NM_014845.6(FIG4):c.1890-14T>G
|
rs1562682595
|
|
NM_014845.6(FIG4):c.1890-16A>T
|
rs544899373
|
|
NM_014845.6(FIG4):c.1890-2A>G
|
rs1777909965
|
|
NM_014845.6(FIG4):c.1890-5T>A
|
|
|
NM_014845.6(FIG4):c.18C>G (p.Ala6=)
|
|
|
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)
|
|
|
NM_014845.6(FIG4):c.1913A>G (p.Glu638Gly)
|
|
|
NM_014845.6(FIG4):c.1917G>A (p.Val639=)
|
|
|
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter)
|
rs1488999396
|
|
NM_014845.6(FIG4):c.1931C>A (p.Pro644Gln)
|
|
|
NM_014845.6(FIG4):c.1948+10T>C
|
|
|
NM_014845.6(FIG4):c.1948+13_1948+16del
|
|
|
NM_014845.6(FIG4):c.1948+1G>A
|
|
|
NM_014845.6(FIG4):c.1948+3A>T
|
|
|
NM_014845.6(FIG4):c.1949-10T>A
|
rs896444437
|
|
NM_014845.6(FIG4):c.1949-10TC[2]
|
|
|
NM_014845.6(FIG4):c.1949-12T>C
|
rs2128396238
|
|
NM_014845.6(FIG4):c.1949-16G>T
|
|
|
NM_014845.6(FIG4):c.1949-18A>G
|
|
|
NM_014845.6(FIG4):c.1949-5C>T
|
|
|
NM_014845.6(FIG4):c.1949-6_1949-3del
|
|
|
NM_014845.6(FIG4):c.1952T>C (p.Ile651Thr)
|
rs2128396248
|
|
NM_014845.6(FIG4):c.1954T>C (p.Cys652Arg)
|
|
|
NM_014845.6(FIG4):c.1978A>T (p.Ile660Leu)
|
rs1777954967
|
|
NM_014845.6(FIG4):c.1981G>T (p.Val661Leu)
|
|
|
NM_014845.6(FIG4):c.1986dup (p.Lys663fs)
|
rs1197741113
|
|
NM_014845.6(FIG4):c.1995C>G (p.His665Gln)
|
|
|
NM_014845.6(FIG4):c.1996A>G (p.Lys666Glu)
|
rs781038961
|
|
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His)
|
rs1777955968
|
|
NM_014845.6(FIG4):c.19C>T (p.Pro7Ser)
|
rs1367256224
|
|
NM_014845.6(FIG4):c.1A>G (p.Met1Val)
|
|
|
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del)
|
rs2128375200
|
|
NM_014845.6(FIG4):c.2011A>G (p.Ile671Val)
|
rs1554307877
|
|
NM_014845.6(FIG4):c.2031C>G (p.Phe677Leu)
|
|
|
NM_014845.6(FIG4):c.2047T>G (p.Leu683Val)
|
rs761084217
|
|
NM_014845.6(FIG4):c.2052C>A (p.Ser684Arg)
|
rs183958565
|
|
NM_014845.6(FIG4):c.2065dup (p.Thr689fs)
|
rs1777959239
|
|
NM_014845.6(FIG4):c.2066C>A (p.Thr689Asn)
|
rs1470703929
|
|
NM_014845.6(FIG4):c.2067C>T (p.Thr689=)
|
|
|
NM_014845.6(FIG4):c.206G>A (p.Arg69His)
|
|
|
NM_014845.6(FIG4):c.2071dup (p.Cys691fs)
|
|
|
NM_014845.6(FIG4):c.2073C>T (p.Cys691=)
|
|
|
NM_014845.6(FIG4):c.2079T>A (p.Ala693=)
|
|
|
NM_014845.6(FIG4):c.207C>T (p.Arg69=)
|
rs1583643073
|
|
NM_014845.6(FIG4):c.2080A>C (p.Met694Leu)
|
|
|
NM_014845.6(FIG4):c.2096+10G>A
|
|
|
NM_014845.6(FIG4):c.2096+10G>T
|
rs1459717981
|
|
NM_014845.6(FIG4):c.2096+11T>C
|
|
|
NM_014845.6(FIG4):c.2096+7T>G
|
rs2128396287
|
|
NM_014845.6(FIG4):c.2096+8G>A
|
|
|
NM_014845.6(FIG4):c.2096+9T>C
|
rs2128396288
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.6(FIG4):c.2097-10C>T
|
rs142482745
|
|
NM_014845.6(FIG4):c.2098G>T (p.Asp700Tyr)
|
rs1554308483
|
|
NM_014845.6(FIG4):c.2124T>C (p.Ile708=)
|
|
|
NM_014845.6(FIG4):c.2127T>C (p.Asp709=)
|
|
|
NM_014845.6(FIG4):c.2136A>G (p.Pro712=)
|
|
|
NM_014845.6(FIG4):c.2149A>G (p.Lys717Glu)
|
rs1259009213
|
|
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala)
|
rs199801181
|
|
NM_014845.6(FIG4):c.2157T>C (p.Asp719=)
|
rs2128396853
|
|
NM_014845.6(FIG4):c.2161del (p.Thr721fs)
|
rs2128396856
|
|
NM_014845.6(FIG4):c.2174dup (p.Leu726fs)
|
rs1562685713
|
|
NM_014845.6(FIG4):c.2176T>C (p.Leu726=)
|
|
|
NM_014845.6(FIG4):c.2177T>G (p.Leu726Trp)
|
rs1778084158
|
|
NM_014845.6(FIG4):c.2180+1del
|
|
|
NM_014845.6(FIG4):c.2180+3A>G
|
rs1778084325
|
|
NM_014845.6(FIG4):c.2181-10C>A
|
rs1583740892
|
|
NM_014845.6(FIG4):c.2181-18A>G
|
|
|
NM_014845.6(FIG4):c.2183A>G (p.Asn728Ser)
|
rs1778129763
|
|
NM_014845.6(FIG4):c.2192A>G (p.Asn731Ser)
|
rs1467094847
|
|
NM_014845.6(FIG4):c.21del (p.Ile8fs)
|
|
|
NM_014845.6(FIG4):c.2201A>G (p.Glu734Gly)
|
|
|
NM_014845.6(FIG4):c.2204C>G (p.Ala735Gly)
|
rs2128397245
|
|
NM_014845.6(FIG4):c.2205T>C (p.Ala735=)
|
|
|
NM_014845.6(FIG4):c.2208A>G (p.Val736=)
|
|
|
NM_014845.6(FIG4):c.2209T>C (p.Leu737=)
|
|
|
NM_014845.6(FIG4):c.2215C>T (p.Arg739Trp)
|
rs773877685
|
|
NM_014845.6(FIG4):c.2223G>A (p.Thr741=)
|
|
|
NM_014845.6(FIG4):c.2223G>T (p.Thr741=)
|
rs181012139
|
|
NM_014845.6(FIG4):c.2241G>A (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2241G>C (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2242C>T (p.Pro748Ser)
|
|
|
NM_014845.6(FIG4):c.2244C>G (p.Pro748=)
|
rs17854106
|
|
NM_014845.6(FIG4):c.2260G>A (p.Val754Met)
|
rs200691981
|
|
NM_014845.6(FIG4):c.2262G>C (p.Val754=)
|
rs2128397273
|
|
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs)
|
rs750712213
|
|
NM_014845.6(FIG4):c.2296C>G (p.Arg766Gly)
|
rs552937585
|
|
NM_014845.6(FIG4):c.2297G>A (p.Arg766Gln)
|
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter)
|
rs2128397285
|
|
NM_014845.6(FIG4):c.2324G>A (p.Arg775His)
|
rs775280287
|
|
NM_014845.6(FIG4):c.2325C>T (p.Arg775=)
|
|
|
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
|
rs760215765
|
|
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro)
|
rs1778137467
|
|
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg)
|
rs886060982
|
|
NM_014845.6(FIG4):c.2370G>T (p.Val790=)
|
|
|
NM_014845.6(FIG4):c.2376+13G>A
|
|
|
NM_014845.6(FIG4):c.2376+16G>T
|
rs746479599
|
|
NM_014845.6(FIG4):c.2376+1G>A
|
|
|
NM_014845.6(FIG4):c.2376+4C>G
|
|
|
NM_014845.6(FIG4):c.2376+4C>T
|
|
|
NM_014845.6(FIG4):c.2376+5G>C
|
rs528952794
|
|
NM_014845.6(FIG4):c.2376+9dup
|
|
|
NM_014845.6(FIG4):c.2377-10del
|
rs200535694
|
|
NM_014845.6(FIG4):c.2377-11_2377-10del
|
rs200535694
|
|
NM_014845.6(FIG4):c.2377-12T>C
|
rs2128397495
|
|
NM_014845.6(FIG4):c.2377-12_2377-10del
|
|
|
NM_014845.6(FIG4):c.2377-13_2377-10del
|
|
|
NM_014845.6(FIG4):c.2377-19_2377-18insC
|
|
|
NM_014845.6(FIG4):c.2377-6C>A
|
|
|
NM_014845.6(FIG4):c.2377-7del
|
|
|
NM_014845.6(FIG4):c.2378A>C (p.Asn793Thr)
|
|
|
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)
|
rs1554309093
|
|
NM_014845.6(FIG4):c.2415C>T (p.Asn805=)
|
|
|
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs)
|
rs1778167481
|
|
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)
|
rs876661144
|
|
NM_014845.6(FIG4):c.2443T>C (p.Phe815Leu)
|
|
|
NM_014845.6(FIG4):c.2445C>G (p.Phe815Leu)
|
|
|
NM_014845.6(FIG4):c.2459+12T>C
|
|
|
NM_014845.6(FIG4):c.2459+7T>C
|
rs575271308
|
|
NM_014845.6(FIG4):c.2459+8A>G
|
|
|
NM_014845.6(FIG4):c.2459G>T (p.Arg820Ile)
|
|
|
NM_014845.6(FIG4):c.2460-10T>C
|
rs749053854
|
|
NM_014845.6(FIG4):c.2460-12T>A
|
rs1264436643
|
|
NM_014845.6(FIG4):c.2460-14A>G
|
rs558299221
|
|
NM_014845.6(FIG4):c.2460-14A>T
|
rs558299221
|
|
NM_014845.6(FIG4):c.2460-5T>A
|
|
|
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser)
|
rs886060984
|
|
NM_014845.6(FIG4):c.2466T>G (p.Val822=)
|
rs2128398444
|
|
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)
|
rs1778299963
|
|
NM_014845.6(FIG4):c.2523G>A (p.Arg841=)
|
rs1554309865
|
|
NM_014845.6(FIG4):c.2546+10A>G
|
|
|
NM_014845.6(FIG4):c.2546+16G>A
|
|
|
NM_014845.6(FIG4):c.2546+17A>C
|
rs1050332219
|
|
NM_014845.6(FIG4):c.2546+5G>A
|
rs1060501401
|
|
NM_014845.6(FIG4):c.2546+5G>C
|
rs1060501401
|
|
NM_014845.6(FIG4):c.2547-3T>A
|
rs537171532
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.6(FIG4):c.2551C>T (p.Pro851Ser)
|
rs773347231
|
|
NM_014845.6(FIG4):c.2559_2560delinsAT (p.Ala854Ser)
|
rs2128402653
|
|
NM_014845.6(FIG4):c.2568G>A (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.2568G>T (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.2574T>C (p.Asp858=)
|
rs1583785957
|
|
NM_014845.6(FIG4):c.2582A>G (p.Tyr861Cys)
|
rs2128402659
|
|
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg)
|
rs539773516
|
|
NM_014845.6(FIG4):c.2607C>G (p.Asp869Glu)
|
|
|
NM_014845.6(FIG4):c.2623A>T (p.Ile875Phe)
|
|
|
NM_014845.6(FIG4):c.2639T>A (p.Ile880Asn)
|
rs746915624
|
|
NM_014845.6(FIG4):c.263G>T (p.Arg88Leu)
|
|
|
NM_014845.6(FIG4):c.2643G>A (p.Gln881=)
|
|
|
NM_014845.6(FIG4):c.2645C>A (p.Ala882Asp)
|
rs2128402682
|
|
NM_014845.6(FIG4):c.2653G>A (p.Gly885Ser)
|
rs2128402684
|
|
NM_014845.6(FIG4):c.2662C>T (p.Gln888Ter)
|
rs1306576733
|
|
NM_014845.6(FIG4):c.2669T>G (p.Leu890Arg)
|
rs2128402689
|
|
NM_014845.6(FIG4):c.2672G>A (p.Gly891Glu)
|
|
|
NM_014845.6(FIG4):c.267G>A (p.Ala89=)
|
|
|
NM_014845.6(FIG4):c.2680G>A (p.Asp894Asn)
|
|
|
NM_014845.6(FIG4):c.2706C>T (p.Ile902=)
|
|
|
NM_014845.6(FIG4):c.2714G>A (p.Arg905His)
|
rs780921285
|
|
NM_014845.6(FIG4):c.281G>A (p.Gly94Asp)
|
rs1775437078
|
|
NM_014845.6(FIG4):c.285T>A (p.Val95=)
|
|
|
NM_014845.6(FIG4):c.289+13C>A
|
|
|
NM_014845.6(FIG4):c.289+13C>T
|
rs1334113726
|
|
NM_014845.6(FIG4):c.289+16C>T
|
|
|
NM_014845.6(FIG4):c.289+17C>A
|
rs368282150
|
|
NM_014845.6(FIG4):c.289+18del
|
|
|
NM_014845.6(FIG4):c.289+18dup
|
|
|
NM_014845.6(FIG4):c.289+19T>G
|
|
|
NM_014845.6(FIG4):c.290-20C>T
|
|
|
NM_014845.6(FIG4):c.290-2A>G
|
rs587777715
|
|
NM_014845.6(FIG4):c.290-5C>T
|
|
|
NM_014845.6(FIG4):c.290-7del
|
rs2128384000
|
|
NM_014845.6(FIG4):c.294del (p.Phe98fs)
|
rs1562648373
|
|
NM_014845.6(FIG4):c.299G>T (p.Arg100Met)
|
|
|
NM_014845.6(FIG4):c.29G>A (p.Ser10Asn)
|
rs979929537
|
|
NM_014845.6(FIG4):c.301T>C (p.Phe101Leu)
|
rs1209947403
|
|
NM_014845.6(FIG4):c.314A>G (p.Tyr105Cys)
|
|
|
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs)
|
rs1562648414
|
|
NM_014845.6(FIG4):c.326TAA[1] (p.Ile110del)
|
|
|
NM_014845.6(FIG4):c.337A>C (p.Arg113=)
|
|
|
NM_014845.6(FIG4):c.359G>A (p.Gly120Glu)
|
rs1775846393
|
|
NM_014845.6(FIG4):c.363T>A (p.Gly121=)
|
|
|
NM_014845.6(FIG4):c.381C>T (p.Val127=)
|
|
|
NM_014845.6(FIG4):c.38A>G (p.Gln13Arg)
|
rs1774392570
|
|
NM_014845.6(FIG4):c.394A>G (p.Met132Val)
|
|
|
NM_014845.6(FIG4):c.395T>G (p.Met132Arg)
|
|
|
NM_014845.6(FIG4):c.397A>G (p.Ile133Val)
|
rs777011122
|
|
NM_014845.6(FIG4):c.3_23dup (p.Met1_Pro7dup)
|
rs1462234190
|
|
NM_014845.6(FIG4):c.400T>C (p.Tyr134His)
|
rs2128384043
|
|
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
|
rs571563767
|
|
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys)
|
rs571563767
|
|
NM_014845.6(FIG4):c.413A>G (p.Asp138Gly)
|
rs1775848896
|
|
NM_014845.6(FIG4):c.414T>A (p.Asp138Glu)
|
rs1562648534
|
|
NM_014845.6(FIG4):c.423G>A (p.Arg141=)
|
rs766129182
|
|
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu)
|
rs1775849908
|
|
NM_014845.6(FIG4):c.446+16A>G
|
rs1330337335
|
|
NM_014845.6(FIG4):c.446+18T>C
|
|
|
NM_014845.6(FIG4):c.446+21dup
|
rs1321436747
|
|
NM_014845.6(FIG4):c.446+2T>C
|
|
|
NM_014845.6(FIG4):c.446+32dup
|
rs11459279
|
|
NM_014845.6(FIG4):c.446+3A>G
|
rs201642753
|
|
NM_014845.6(FIG4):c.447-10_447-9insC
|
rs2128385199
|
|
NM_014845.6(FIG4):c.447-15T>G
|
|
|
NM_014845.6(FIG4):c.447-16_447-13del
|
rs753412030
|
|
NM_014845.6(FIG4):c.447-16_447-14del
|
|
|
NM_014845.6(FIG4):c.447-16_447-15insCT
|
|
|
NM_014845.6(FIG4):c.447-16del
|
|
|
NM_014845.6(FIG4):c.447-16delinsTT
|
rs1776038653
|
|
NM_014845.6(FIG4):c.447-17dup
|
rs764540259
|
|
NM_014845.6(FIG4):c.447-18_447-17del
|
|
|
NM_014845.6(FIG4):c.447-18_447-17dup
|
|
|
NM_014845.6(FIG4):c.447-2A>C
|
rs866895236
|
|
NM_014845.6(FIG4):c.447-3del
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-4_447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-565_447-564inv
|
|
|
NM_014845.6(FIG4):c.447-5_447-3dup
|
|
|
NM_014845.6(FIG4):c.449A>G (p.Tyr150Cys)
|
rs1233666827
|
|
NM_014845.6(FIG4):c.451C>T (p.Leu151=)
|
|
|
NM_014845.6(FIG4):c.453A>G (p.Leu151=)
|
|
|
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter)
|
rs1175493477
|
|
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)
|
|
|
NM_014845.6(FIG4):c.475C>G (p.Leu159Val)
|
|
|
NM_014845.6(FIG4):c.485A>T (p.Asn162Ile)
|
rs2128385214
|
|
NM_014845.6(FIG4):c.486T>C (p.Asn162=)
|
|
|
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
|
rs769986219
|
|
NM_014845.6(FIG4):c.497+10A>T
|
rs2128385219
|
|
NM_014845.6(FIG4):c.497+7G>A
|
rs140111950
|
|
NM_014845.6(FIG4):c.497G>A (p.Ser166Asn)
|
|
|
NM_014845.6(FIG4):c.498-14A>G
|
|
|
NM_014845.6(FIG4):c.498-15C>A
|
rs2128385652
|
|
NM_014845.6(FIG4):c.498-2A>G
|
rs1554300952
|
|
NM_014845.6(FIG4):c.504C>G (p.Ser168Arg)
|
|
|
NM_014845.6(FIG4):c.506A>G (p.Tyr169Cys)
|
|
|
NM_014845.6(FIG4):c.512_514del (p.Leu171del)
|
rs763532476
|
|
NM_014845.6(FIG4):c.516C>T (p.Ser172=)
|
rs759246119
|
|
NM_014845.6(FIG4):c.527A>G (p.Gln176Arg)
|
rs1776123608
|
|
NM_014845.6(FIG4):c.528A>G (p.Gln176=)
|
rs1562652753
|
|
NM_014845.6(FIG4):c.533A>C (p.Asn178Thr)
|
|
|
NM_014845.6(FIG4):c.535C>G (p.Leu179Val)
|
rs141116831
|
|
NM_014845.6(FIG4):c.539C>T (p.Thr180Ile)
|
|
|
NM_014845.6(FIG4):c.553C>A (p.Pro185Thr)
|
|
|
NM_014845.6(FIG4):c.557del (p.Leu186fs)
|
|
|
NM_014845.6(FIG4):c.57G>C (p.Glu19Asp)
|
rs2128375315
|
|
NM_014845.6(FIG4):c.590G>A (p.Arg197His)
|
|
|
NM_014845.6(FIG4):c.590G>T (p.Arg197Leu)
|
rs543462663
|
|
NM_014845.6(FIG4):c.591C>T (p.Arg197=)
|
|
|
NM_014845.6(FIG4):c.592C>G (p.Gln198Glu)
|
|
|
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
|
|
|
NM_014845.6(FIG4):c.618T>C (p.Asp206=)
|
rs1208786525
|
|
NM_014845.6(FIG4):c.61A>G (p.Arg21Gly)
|
|
|
NM_014845.6(FIG4):c.62G>A (p.Arg21Lys)
|
rs1041331138
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
|
NM_014845.6(FIG4):c.646+13G>A
|
|
|
NM_014845.6(FIG4):c.646+20C>G
|
|
|
NM_014845.6(FIG4):c.646+7G>T
|
rs2128385685
|
|
NM_014845.6(FIG4):c.647-10del
|
|
|
NM_014845.6(FIG4):c.647-20T>C
|
|
|
NM_014845.6(FIG4):c.647-4del
|
|
|
NM_014845.6(FIG4):c.66+11C>A
|
|
|
NM_014845.6(FIG4):c.66+14C>T
|
rs1319217856
|
|
NM_014845.6(FIG4):c.66+17G>C
|
|
|
NM_014845.6(FIG4):c.66+19C>G
|
|
|
NM_014845.6(FIG4):c.66+20G>C
|
|
|
NM_014845.6(FIG4):c.66+9C>G
|
|
|
NM_014845.6(FIG4):c.67-15C>T
|
|
|
NM_014845.6(FIG4):c.67-18A>G
|
|
|
NM_014845.6(FIG4):c.67-1G>A
|
|
|
NM_014845.6(FIG4):c.67-8A>G
|
|
|
NM_014845.6(FIG4):c.676A>G (p.Met226Val)
|
|
|
NM_014845.6(FIG4):c.67A>G (p.Arg23Gly)
|
rs1775386814
|
|
NM_014845.6(FIG4):c.684T>C (p.Tyr228=)
|
rs1296081777
|
|
NM_014845.6(FIG4):c.69A>G (p.Arg23=)
|
rs1775386908
|
|
NM_014845.6(FIG4):c.705G>T (p.Leu235=)
|
rs1026195072
|
|
NM_014845.6(FIG4):c.725T>C (p.Val242Ala)
|
|
|
NM_014845.6(FIG4):c.741T>C (p.Leu247=)
|
|
|
NM_014845.6(FIG4):c.756T>G (p.His252Gln)
|
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014845.6(FIG4):c.760T>C (p.Phe254Leu)
|
rs2128386168
|
|
NM_014845.6(FIG4):c.762C>T (p.Phe254=)
|
rs201013726
|
|
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)
|
|
|
NM_014845.6(FIG4):c.775+10C>T
|
|
|
NM_014845.6(FIG4):c.775+20del
|
|
|
NM_014845.6(FIG4):c.775+5C>G
|
rs1776227879
|
|
NM_014845.6(FIG4):c.783del (p.Ile262fs)
|
rs1161553940
|
|
NM_014845.6(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs)
|
rs1583669418
|
|
NM_014845.6(FIG4):c.793C>A (p.Arg265=)
|
rs774294963
|
|
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)
|
|
|
NM_014845.6(FIG4):c.803A>G (p.Tyr268Cys)
|
|
|
NM_014845.6(FIG4):c.805G>T (p.Val269Phe)
|
rs1474263523
|
|
NM_014845.6(FIG4):c.811C>T (p.Leu271=)
|
rs1360869637
|
|
NM_014845.6(FIG4):c.813A>G (p.Leu271=)
|
rs2128386644
|
|
NM_014845.6(FIG4):c.823A>C (p.Arg275=)
|
|
|
NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
|
|
NM_014845.6(FIG4):c.843C>T (p.Gly281=)
|
rs1776323553
|
|
NM_014845.6(FIG4):c.848G>A (p.Arg283His)
|
rs1562655830
|
|
NM_014845.6(FIG4):c.852T>C (p.Phe284=)
|
rs2128386650
|
|
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr)
|
rs1776324068
|
|
NM_014845.6(FIG4):c.870C>T (p.Asn290=)
|
rs1236653957
|
|
NM_014845.6(FIG4):c.876+2T>G
|
rs2128386656
|
|
NM_014845.6(FIG4):c.876+7_876+13dup
|
|
|
NM_014845.6(FIG4):c.877-15C>T
|
|
|
NM_014845.6(FIG4):c.877-7T>C
|
|
|
NM_014845.6(FIG4):c.882T>C (p.Asp294=)
|
rs776821372
|
|
NM_014845.6(FIG4):c.892G>C (p.Glu298Gln)
|
|
|
NM_014845.6(FIG4):c.911T>C (p.Ile304Thr)
|
|
|
NM_014845.6(FIG4):c.915C>T (p.Leu305=)
|
|
|
NM_014845.6(FIG4):c.935C>G (p.Ser312Cys)
|
|
|
NM_014845.6(FIG4):c.962A>G (p.Tyr321Cys)
|
|
|
NM_014845.6(FIG4):c.976G>A (p.Gly326Arg)
|
rs778157600
|
|
NM_014845.6(FIG4):c.998C>T (p.Ser333Phe)
|
|
|