NM_004984.4(KIF5A):c.36+5C>T
|
rs775249
|
0.25100
|
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)
|
rs113247976
|
0.01241
|
NM_004984.4(KIF5A):c.2023+18C>T
|
rs192960012
|
0.00832
|
NM_004984.4(KIF5A):c.820-19G>T
|
rs181688415
|
0.00736
|
NM_004984.4(KIF5A):c.396+14G>A
|
rs17119769
|
0.00700
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
NM_004984.4(KIF5A):c.446-18T>C
|
rs188999300
|
0.00237
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
NM_004984.4(KIF5A):c.2433+19G>A
|
rs114929380
|
0.00170
|
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)
|
rs150672943
|
0.00117
|
NM_004984.4(KIF5A):c.714+8G>A
|
rs199624091
|
0.00101
|
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=)
|
rs113155897
|
0.00100
|
NM_004984.4(KIF5A):c.2199-4G>A
|
rs201366820
|
0.00077
|
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)
|
rs140281678
|
0.00074
|
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)
|
rs139091551
|
0.00070
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)
|
rs140929639
|
0.00056
|
NM_004984.4(KIF5A):c.2403C>T (p.Phe801=)
|
rs149934878
|
0.00054
|
NM_004984.4(KIF5A):c.1656C>T (p.Asn552=)
|
rs776685173
|
0.00051
|
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=)
|
rs145062338
|
0.00038
|
NM_004984.4(KIF5A):c.471C>T (p.His157=)
|
rs143178113
|
0.00034
|
NM_004984.4(KIF5A):c.1236G>A (p.Glu412=)
|
rs143591739
|
0.00028
|
NM_004984.4(KIF5A):c.60C>T (p.Asn20=)
|
rs200876187
|
0.00021
|
NM_004984.4(KIF5A):c.2832C>T (p.Ile944=)
|
rs114935472
|
0.00020
|
NM_004984.4(KIF5A):c.1294-10C>A
|
rs530832211
|
0.00019
|
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=)
|
rs147057295
|
0.00019
|
NM_004984.4(KIF5A):c.820-10C>T
|
rs374848194
|
0.00017
|
NM_004984.4(KIF5A):c.129+9C>T
|
rs372131378
|
0.00016
|
NM_004984.4(KIF5A):c.2024-7C>T
|
rs375960933
|
0.00016
|
NM_004984.4(KIF5A):c.2040G>A (p.Val680=)
|
rs117670788
|
0.00016
|
NM_004984.4(KIF5A):c.292-5G>A
|
rs201917057
|
0.00016
|
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=)
|
rs112982686
|
0.00014
|
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)
|
rs139801016
|
0.00014
|
NM_004984.4(KIF5A):c.261G>A (p.Gln87=)
|
rs369673537
|
0.00013
|
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)
|
rs748402153
|
0.00012
|
NM_004984.4(KIF5A):c.2361+7G>A
|
rs371567825
|
0.00011
|
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=)
|
rs148434838
|
0.00011
|
NM_004984.4(KIF5A):c.152G>A (p.Arg51His)
|
rs773336059
|
0.00010
|
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)
|
rs370644634
|
0.00010
|
NM_004984.4(KIF5A):c.2023+14A>G
|
rs750746685
|
0.00009
|
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=)
|
rs759750438
|
0.00009
|
NM_004984.4(KIF5A):c.1714C>T (p.Leu572=)
|
rs138475832
|
0.00008
|
NM_004984.4(KIF5A):c.1740C>T (p.Ile580=)
|
rs149622711
|
0.00008
|
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)
|
rs767911747
|
0.00008
|
NM_004984.4(KIF5A):c.3024T>C (p.Ser1008=)
|
rs766259270
|
0.00008
|
NM_004984.4(KIF5A):c.801C>T (p.Ser267=)
|
rs368628303
|
0.00008
|
NM_004984.4(KIF5A):c.1926G>A (p.Ser642=)
|
rs377649745
|
0.00007
|
NM_004984.4(KIF5A):c.2262C>T (p.Ser754=)
|
rs143260492
|
0.00007
|
NM_004984.4(KIF5A):c.2955C>T (p.Gly985=)
|
rs202074843
|
0.00007
|
NM_004984.4(KIF5A):c.820-9C>A
|
rs185306438
|
0.00007
|
NM_004984.4(KIF5A):c.1090G>A (p.Glu364Lys)
|
rs371335708
|
0.00006
|
NM_004984.4(KIF5A):c.1173C>T (p.Ala391=)
|
rs780381269
|
0.00006
|
NM_004984.4(KIF5A):c.2472C>T (p.His824=)
|
rs201743611
|
0.00006
|
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser)
|
rs371548640
|
0.00006
|
NM_004984.4(KIF5A):c.715-20A>G
|
rs201888198
|
0.00006
|
NM_004984.4(KIF5A):c.894G>A (p.Thr298=)
|
rs763135764
|
0.00006
|
NM_004984.4(KIF5A):c.1368G>A (p.Leu456=)
|
rs769470445
|
0.00005
|
NM_004984.4(KIF5A):c.1947C>T (p.Ser649=)
|
rs772609896
|
0.00005
|
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)
|
rs554894381
|
0.00005
|
NM_004984.4(KIF5A):c.396+13C>T
|
rs377008480
|
0.00005
|
NM_004984.4(KIF5A):c.1083G>A (p.Ala361=)
|
rs528282741
|
0.00004
|
NM_004984.4(KIF5A):c.1142G>A (p.Arg381His)
|
rs755855553
|
0.00004
|
NM_004984.4(KIF5A):c.1195G>A (p.Val399Met)
|
rs908820800
|
0.00004
|
NM_004984.4(KIF5A):c.1230G>A (p.Ala410=)
|
rs753565345
|
0.00004
|
NM_004984.4(KIF5A):c.1281G>A (p.Gln427=)
|
rs771610789
|
0.00004
|
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg)
|
rs370132723
|
0.00004
|
NM_004984.4(KIF5A):c.1437C>T (p.Ala479=)
|
rs369229819
|
0.00004
|
NM_004984.4(KIF5A):c.2023+7C>T
|
rs757331201
|
0.00004
|
NM_004984.4(KIF5A):c.2433+14T>C
|
rs376614388
|
0.00004
|
NM_004984.4(KIF5A):c.2781C>T (p.Tyr927=)
|
rs767928175
|
0.00004
|
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser)
|
rs764612223
|
0.00004
|
NM_004984.4(KIF5A):c.292-14C>A
|
rs778921032
|
0.00004
|
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln)
|
rs144277716
|
0.00004
|
NM_004984.4(KIF5A):c.381T>A (p.Leu127=)
|
rs140832607
|
0.00004
|
NM_004984.4(KIF5A):c.483C>T (p.Asn161=)
|
rs371542028
|
0.00004
|
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu)
|
rs140144799
|
0.00004
|
NM_004984.4(KIF5A):c.660G>A (p.Thr220=)
|
rs762824969
|
0.00004
|
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=)
|
rs758700375
|
0.00003
|
NM_004984.4(KIF5A):c.1233C>T (p.Pro411=)
|
rs757235645
|
0.00003
|
NM_004984.4(KIF5A):c.1251C>T (p.Tyr417=)
|
rs780256557
|
0.00003
|
NM_004984.4(KIF5A):c.1390G>A (p.Glu464Lys)
|
rs962405110
|
0.00003
|
NM_004984.4(KIF5A):c.159C>T (p.Phe53=)
|
rs536777412
|
0.00003
|
NM_004984.4(KIF5A):c.1620T>C (p.Ser540=)
|
rs1307744841
|
0.00003
|
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=)
|
rs144382702
|
0.00003
|
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp)
|
rs377539747
|
0.00003
|
NM_004984.4(KIF5A):c.2248G>A (p.Glu750Lys)
|
rs1218452123
|
0.00003
|
NM_004984.4(KIF5A):c.2289G>A (p.Leu763=)
|
rs377232772
|
0.00003
|
NM_004984.4(KIF5A):c.2782C>T (p.Pro928Ser)
|
rs1163611256
|
0.00003
|
NM_004984.4(KIF5A):c.292-6C>T
|
rs369913032
|
0.00003
|
NM_004984.4(KIF5A):c.2926A>G (p.Thr976Ala)
|
rs146406013
|
0.00003
|
NM_004984.4(KIF5A):c.2992+18G>T
|
rs745773241
|
0.00003
|
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg)
|
rs758987045
|
0.00003
|
NM_004984.4(KIF5A):c.750C>T (p.Asp250=)
|
rs375693647
|
0.00003
|
NM_004984.4(KIF5A):c.846C>T (p.Ser282=)
|
rs149888065
|
0.00003
|
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met)
|
rs774586838
|
0.00002
|
NM_004984.4(KIF5A):c.1164C>A (p.Ala388=)
|
rs745882021
|
0.00002
|
NM_004984.4(KIF5A):c.1200T>C (p.Asn400=)
|
rs748756540
|
0.00002
|
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys)
|
rs767181570
|
0.00002
|
NM_004984.4(KIF5A):c.1227C>T (p.Ile409=)
|
rs775172912
|
0.00002
|
NM_004984.4(KIF5A):c.1287C>T (p.Asp429=)
|
rs760382029
|
0.00002
|
NM_004984.4(KIF5A):c.1293+15G>A
|
rs200594693
|
0.00002
|
NM_004984.4(KIF5A):c.1329G>A (p.Glu443=)
|
rs1432671074
|
0.00002
|
NM_004984.4(KIF5A):c.1631G>A (p.Arg544Gln)
|
rs778864713
|
0.00002
|
NM_004984.4(KIF5A):c.1651C>G (p.Leu551Val)
|
rs147493358
|
0.00002
|
NM_004984.4(KIF5A):c.1796A>G (p.Lys599Arg)
|
rs1471037370
|
0.00002
|
NM_004984.4(KIF5A):c.1869G>A (p.Gly623=)
|
rs781063689
|
0.00002
|
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp)
|
rs748248329
|
0.00002
|
NM_004984.4(KIF5A):c.1995C>T (p.Ser665=)
|
rs368783789
|
0.00002
|
NM_004984.4(KIF5A):c.1996G>A (p.Asp666Asn)
|
rs1398974670
|
0.00002
|
NM_004984.4(KIF5A):c.2006C>A (p.Ala669Asp)
|
rs753975521
|
0.00002
|
NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln)
|
rs1360689553
|
0.00002
|
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp)
|
rs779614400
|
0.00002
|
NM_004984.4(KIF5A):c.2135G>A (p.Arg712Gln)
|
rs373969485
|
0.00002
|
NM_004984.4(KIF5A):c.2152C>T (p.Arg718Trp)
|
rs769871370
|
0.00002
|
NM_004984.4(KIF5A):c.217+5T>C
|
rs1321172885
|
0.00002
|
NM_004984.4(KIF5A):c.2198+19G>A
|
rs932182752
|
0.00002
|
NM_004984.4(KIF5A):c.2217G>C (p.Gln739His)
|
rs755813386
|
0.00002
|
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)
|
rs387907286
|
0.00002
|
NM_004984.4(KIF5A):c.2282C>G (p.Thr761Ser)
|
rs1271325672
|
0.00002
|
NM_004984.4(KIF5A):c.2310C>T (p.Tyr770=)
|
rs919085412
|
0.00002
|
NM_004984.4(KIF5A):c.2433+16G>C
|
rs770467123
|
0.00002
|
NM_004984.4(KIF5A):c.2538+8T>G
|
rs377005699
|
0.00002
|
NM_004984.4(KIF5A):c.2553T>C (p.Asn851=)
|
rs370062689
|
0.00002
|
NM_004984.4(KIF5A):c.2557G>A (p.Asp853Asn)
|
rs780457980
|
0.00002
|
NM_004984.4(KIF5A):c.2655C>T (p.Gly885=)
|
rs1007236664
|
0.00002
|
NM_004984.4(KIF5A):c.2727G>A (p.Ser909=)
|
rs756801243
|
0.00002
|
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp)
|
rs201098122
|
0.00002
|
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)
|
rs746095110
|
0.00002
|
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)
|
rs146202502
|
0.00002
|
NM_004984.4(KIF5A):c.2993-12T>C
|
rs542701424
|
0.00002
|
NM_004984.4(KIF5A):c.510T>G (p.Thr170=)
|
rs369289917
|
0.00002
|
NM_004984.4(KIF5A):c.560G>C (p.Gly187Ala)
|
rs147510678
|
0.00002
|
NM_004984.4(KIF5A):c.567A>G (p.Ser189=)
|
rs761592339
|
0.00002
|
NM_004984.4(KIF5A):c.5C>T (p.Ala2Val)
|
rs780433858
|
0.00002
|
NM_004984.4(KIF5A):c.876C>T (p.Leu292=)
|
rs560367645
|
0.00002
|
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=)
|
rs755457098
|
0.00002
|
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)
|
rs749301835
|
0.00001
|
NM_004984.4(KIF5A):c.1077G>A (p.Thr359=)
|
rs552427920
|
0.00001
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
NM_004984.4(KIF5A):c.1111C>T (p.Arg371Cys)
|
rs986406337
|
0.00001
|
NM_004984.4(KIF5A):c.1117+13T>C
|
rs1882186079
|
0.00001
|
NM_004984.4(KIF5A):c.1117+4A>G
|
rs781028681
|
0.00001
|
NM_004984.4(KIF5A):c.1123A>G (p.Asn375Asp)
|
rs767095969
|
0.00001
|
NM_004984.4(KIF5A):c.1152G>T (p.Gly384=)
|
rs1206226779
|
0.00001
|
NM_004984.4(KIF5A):c.1177C>A (p.Leu393Ile)
|
rs1247656371
|
0.00001
|
NM_004984.4(KIF5A):c.1197G>A (p.Val399=)
|
rs1297872839
|
0.00001
|
NM_004984.4(KIF5A):c.1218G>C (p.Val406=)
|
rs758977709
|
0.00001
|
NM_004984.4(KIF5A):c.1223G>A (p.Arg408His)
|
rs1203347152
|
0.00001
|
NM_004984.4(KIF5A):c.1240C>T (p.Arg414Trp)
|
rs758500897
|
0.00001
|
NM_004984.4(KIF5A):c.1241G>A (p.Arg414Gln)
|
rs1170006745
|
0.00001
|
NM_004984.4(KIF5A):c.1268G>A (p.Arg423His)
|
rs778095192
|
0.00001
|
NM_004984.4(KIF5A):c.129+10G>A
|
rs1881532622
|
0.00001
|
NM_004984.4(KIF5A):c.129+20G>A
|
rs763226331
|
0.00001
|
NM_004984.4(KIF5A):c.1293+8C>T
|
rs776493530
|
0.00001
|
NM_004984.4(KIF5A):c.1294-7C>T
|
rs200535153
|
0.00001
|
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=)
|
rs770297402
|
0.00001
|
NM_004984.4(KIF5A):c.1362+19G>A
|
rs1420700116
|
0.00001
|
NM_004984.4(KIF5A):c.1373C>T (p.Ser458Phe)
|
rs1445439522
|
0.00001
|
NM_004984.4(KIF5A):c.1386C>T (p.Asp462=)
|
rs1269741883
|
0.00001
|
NM_004984.4(KIF5A):c.1403G>A (p.Arg468Gln)
|
rs774379377
|
0.00001
|
NM_004984.4(KIF5A):c.1407G>T (p.Glu469Asp)
|
rs376249839
|
0.00001
|
NM_004984.4(KIF5A):c.1431C>T (p.Asn477=)
|
rs775627499
|
0.00001
|
NM_004984.4(KIF5A):c.1458A>G (p.Glu486=)
|
rs765567239
|
0.00001
|
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=)
|
rs1227040638
|
0.00001
|
NM_004984.4(KIF5A):c.1503G>A (p.Lys501=)
|
rs143117314
|
0.00001
|
NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys)
|
rs769763596
|
0.00001
|
NM_004984.4(KIF5A):c.1569+6T>C
|
rs1191410072
|
0.00001
|
NM_004984.4(KIF5A):c.1570-5C>T
|
rs752180551
|
0.00001
|
NM_004984.4(KIF5A):c.1604G>A (p.Arg535Gln)
|
rs777398624
|
0.00001
|
NM_004984.4(KIF5A):c.1611G>A (p.Gln537=)
|
rs756959491
|
0.00001
|
NM_004984.4(KIF5A):c.1702G>A (p.Gly568Arg)
|
rs763336788
|
0.00001
|
NM_004984.4(KIF5A):c.170C>T (p.Thr57Met)
|
rs759785671
|
0.00001
|
NM_004984.4(KIF5A):c.1717-18C>T
|
rs1882379859
|
0.00001
|
NM_004984.4(KIF5A):c.1735G>A (p.Ala579Thr)
|
rs760135493
|
0.00001
|
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter)
|
rs1555178348
|
0.00001
|
NM_004984.4(KIF5A):c.180G>A (p.Glu60=)
|
rs200900180
|
0.00001
|
NM_004984.4(KIF5A):c.1850G>A (p.Arg617His)
|
rs751295639
|
0.00001
|
NM_004984.4(KIF5A):c.1867G>A (p.Gly623Arg)
|
rs1882386176
|
0.00001
|
NM_004984.4(KIF5A):c.1890G>A (p.Gln630=)
|
rs1401764909
|
0.00001
|
NM_004984.4(KIF5A):c.1896C>T (p.Leu632=)
|
rs1161979577
|
0.00001
|
NM_004984.4(KIF5A):c.1948G>A (p.Val650Met)
|
rs374729476
|
0.00001
|
NM_004984.4(KIF5A):c.1964G>A (p.Arg655Gln)
|
rs772780431
|
0.00001
|
NM_004984.4(KIF5A):c.1986C>T (p.Asp662=)
|
rs987655555
|
0.00001
|
NM_004984.4(KIF5A):c.2004G>A (p.Leu668=)
|
rs778038642
|
0.00001
|
NM_004984.4(KIF5A):c.2024-8T>G
|
rs190187837
|
0.00001
|
NM_004984.4(KIF5A):c.2041G>A (p.Ala681Thr)
|
rs1212119444
|
0.00001
|
NM_004984.4(KIF5A):c.2112G>A (p.Glu704=)
|
rs918777253
|
0.00001
|
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp)
|
rs756646293
|
0.00001
|
NM_004984.4(KIF5A):c.2124G>A (p.Glu708=)
|
rs1224244947
|
0.00001
|
NM_004984.4(KIF5A):c.2157C>T (p.Asp719=)
|
rs773330335
|
0.00001
|
NM_004984.4(KIF5A):c.217+7G>T
|
rs764640404
|
0.00001
|
NM_004984.4(KIF5A):c.217+8A>G
|
rs1305247048
|
0.00001
|
NM_004984.4(KIF5A):c.218-13C>T
|
rs773063708
|
0.00001
|
NM_004984.4(KIF5A):c.218-4C>A
|
rs749395504
|
0.00001
|
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr)
|
rs757751684
|
0.00001
|
NM_004984.4(KIF5A):c.2188G>A (p.Glu730Lys)
|
rs370904481
|
0.00001
|
NM_004984.4(KIF5A):c.2196A>G (p.Lys732=)
|
rs1462609432
|
0.00001
|
NM_004984.4(KIF5A):c.2198+15G>A
|
rs763862370
|
0.00001
|
NM_004984.4(KIF5A):c.2240C>A (p.Ala747Asp)
|
rs749023785
|
0.00001
|
NM_004984.4(KIF5A):c.2247C>T (p.Tyr749=)
|
rs770805531
|
0.00001
|
NM_004984.4(KIF5A):c.2271C>T (p.His757=)
|
rs374554951
|
0.00001
|
NM_004984.4(KIF5A):c.2290C>A (p.Gln764Lys)
|
rs749616160
|
0.00001
|
NM_004984.4(KIF5A):c.2300+7G>A
|
rs763362184
|
0.00001
|
NM_004984.4(KIF5A):c.2300+8G>A
|
rs566046023
|
0.00001
|
NM_004984.4(KIF5A):c.2301-11T>C
|
rs747055795
|
0.00001
|
NM_004984.4(KIF5A):c.2342A>G (p.Lys781Arg)
|
rs1461718357
|
0.00001
|
NM_004984.4(KIF5A):c.2361+9T>C
|
rs756847817
|
0.00001
|
NM_004984.4(KIF5A):c.2365C>T (p.Arg789Trp)
|
rs781124099
|
0.00001
|
NM_004984.4(KIF5A):c.236A>G (p.Asn79Ser)
|
rs1299838179
|
0.00001
|
NM_004984.4(KIF5A):c.2392C>T (p.Arg798Cys)
|
rs372633156
|
0.00001
|
NM_004984.4(KIF5A):c.2433+9T>C
|
rs1326778311
|
0.00001
|
NM_004984.4(KIF5A):c.2434-15T>C
|
rs1233214204
|
0.00001
|
NM_004984.4(KIF5A):c.2451C>T (p.Pro817=)
|
rs976137208
|
0.00001
|
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys)
|
rs766050696
|
0.00001
|
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His)
|
rs777903778
|
0.00001
|
NM_004984.4(KIF5A):c.2538+7G>A
|
rs575641161
|
0.00001
|
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His)
|
rs765503816
|
0.00001
|
NM_004984.4(KIF5A):c.2571G>A (p.Glu857=)
|
rs747531341
|
0.00001
|
NM_004984.4(KIF5A):c.2603C>T (p.Thr868Met)
|
rs1295436882
|
0.00001
|
NM_004984.4(KIF5A):c.2630G>C (p.Gly877Ala)
|
rs1882579532
|
0.00001
|
NM_004984.4(KIF5A):c.2681A>T (p.Gln894Leu)
|
rs1192823802
|
0.00001
|
NM_004984.4(KIF5A):c.2710G>A (p.Val904Ile)
|
rs141590802
|
0.00001
|
NM_004984.4(KIF5A):c.2713C>T (p.Arg905Cys)
|
rs758637368
|
0.00001
|
NM_004984.4(KIF5A):c.2755+3G>A
|
rs1416076720
|
0.00001
|
NM_004984.4(KIF5A):c.2756-12T>A
|
rs894629153
|
0.00001
|
NM_004984.4(KIF5A):c.2756-14T>C
|
rs746607425
|
0.00001
|
NM_004984.4(KIF5A):c.2763C>T (p.Pro921=)
|
rs769791770
|
0.00001
|
NM_004984.4(KIF5A):c.2767C>T (p.Arg923Trp)
|
rs1231571339
|
0.00001
|
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=)
|
rs781143696
|
0.00001
|
NM_004984.4(KIF5A):c.2897C>T (p.Thr966Ile)
|
rs149433823
|
0.00001
|
NM_004984.4(KIF5A):c.2909+14C>T
|
rs762210073
|
0.00001
|
NM_004984.4(KIF5A):c.2909+15G>A
|
rs376256320
|
0.00001
|
NM_004984.4(KIF5A):c.291+15T>C
|
rs764730335
|
0.00001
|
NM_004984.4(KIF5A):c.291+5G>A
|
rs775732465
|
0.00001
|
NM_004984.4(KIF5A):c.2921C>T (p.Ser974Phe)
|
rs1882614569
|
0.00001
|
NM_004984.4(KIF5A):c.2992+15T>C
|
rs1594926730
|
0.00001
|
NM_004984.4(KIF5A):c.2992+3G>T
|
rs1882618202
|
0.00001
|
NM_004984.4(KIF5A):c.2993-6C>T
|
rs1057522322
|
0.00001
|
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=)
|
rs750415265
|
0.00001
|
NM_004984.4(KIF5A):c.3020+1G>A
|
rs1555179091
|
0.00001
|
NM_004984.4(KIF5A):c.3020+9G>A
|
rs1297564196
|
0.00001
|
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)
|
rs751496558
|
0.00001
|
NM_004984.4(KIF5A):c.3050A>G (p.Glu1017Gly)
|
rs1485170378
|
0.00001
|
NM_004984.4(KIF5A):c.3062A>G (p.Lys1021Arg)
|
rs1186511989
|
0.00001
|
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys)
|
rs756348570
|
0.00001
|
NM_004984.4(KIF5A):c.3085A>G (p.Thr1029Ala)
|
rs1276293459
|
0.00001
|
NM_004984.4(KIF5A):c.324C>A (p.Ile108=)
|
rs1408387685
|
0.00001
|
NM_004984.4(KIF5A):c.32A>C (p.Lys11Thr)
|
rs748864821
|
0.00001
|
NM_004984.4(KIF5A):c.408T>C (p.Phe136=)
|
rs770202664
|
0.00001
|
NM_004984.4(KIF5A):c.445+7G>A
|
rs1594912944
|
0.00001
|
NM_004984.4(KIF5A):c.446-15A>T
|
rs1453048734
|
0.00001
|
NM_004984.4(KIF5A):c.446-20C>G
|
rs1387302349
|
0.00001
|
NM_004984.4(KIF5A):c.449C>G (p.Thr150Ser)
|
rs1882017045
|
0.00001
|
NM_004984.4(KIF5A):c.465C>T (p.Ser155=)
|
rs747071818
|
0.00001
|
NM_004984.4(KIF5A):c.501+17G>T
|
rs749874893
|
0.00001
|
NM_004984.4(KIF5A):c.522G>A (p.Val174=)
|
rs1443344036
|
0.00001
|
NM_004984.4(KIF5A):c.52C>T (p.Pro18Ser)
|
rs770302674
|
0.00001
|
NM_004984.4(KIF5A):c.530C>T (p.Pro177Leu)
|
rs1319232269
|
0.00001
|
NM_004984.4(KIF5A):c.531G>A (p.Pro177=)
|
rs771476833
|
0.00001
|
NM_004984.4(KIF5A):c.652A>G (p.Met218Val)
|
rs769491011
|
0.00001
|
NM_004984.4(KIF5A):c.659C>T (p.Thr220Met)
|
rs772697257
|
0.00001
|
NM_004984.4(KIF5A):c.672C>T (p.Leu224=)
|
rs770896632
|
0.00001
|
NM_004984.4(KIF5A):c.802G>A (p.Ala268Thr)
|
rs139015012
|
0.00001
|
NM_004984.4(KIF5A):c.819+11C>T
|
rs993330230
|
0.00001
|
NM_004984.4(KIF5A):c.819+12T>G
|
rs1264041425
|
0.00001
|
NM_004984.4(KIF5A):c.820-4C>T
|
rs776585528
|
0.00001
|
NM_004984.4(KIF5A):c.828T>C (p.Tyr276=)
|
rs1485619677
|
0.00001
|
NM_004984.4(KIF5A):c.848A>G (p.Lys283Arg)
|
rs1882169104
|
0.00001
|
NM_004984.4(KIF5A):c.930T>C (p.Asn310=)
|
rs768004830
|
0.00001
|
NM_004984.4(KIF5A):c.93C>T (p.Ile31=)
|
rs923503057
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_004984.4(KIF5A):c.968+12G>C
|
rs536186088
|
0.00001
|
NM_004984.4(KIF5A):c.968+16C>G
|
rs1188551649
|
0.00001
|
NM_004984.4(KIF5A):c.969-17C>T
|
rs1010157708
|
0.00001
|
NM_004984.4(KIF5A):c.996A>G (p.Ser332=)
|
rs1320583318
|
0.00001
|
NC_000012.11:g.(?_57960889)_(57965192_?)dup
|
|
|
NM_004984.2(KIF5A):c.2993del
|
rs1882639725
|
|
NM_004984.4(KIF5A):c.-1_15del (p.Met1fs)
|
|
|
NM_004984.4(KIF5A):c.1029G>A (p.Lys343=)
|
|
|
NM_004984.4(KIF5A):c.103C>A (p.Gln35Lys)
|
rs2140150213
|
|
NM_004984.4(KIF5A):c.1042_1044del (p.Lys348del)
|
rs2140163232
|
|
NM_004984.4(KIF5A):c.1046A>G (p.Glu349Gly)
|
|
|
NM_004984.4(KIF5A):c.1047G>A (p.Glu349=)
|
|
|
NM_004984.4(KIF5A):c.1058C>G (p.Thr353Arg)
|
|
|
NM_004984.4(KIF5A):c.1080T>C (p.Ile360=)
|
|
|
NM_004984.4(KIF5A):c.1082C>A (p.Ala361Glu)
|
|
|
NM_004984.4(KIF5A):c.1082C>G (p.Ala361Gly)
|
|
|
NM_004984.4(KIF5A):c.1087C>T (p.Leu363=)
|
|
|
NM_004984.4(KIF5A):c.1091A>G (p.Glu364Gly)
|
|
|
NM_004984.4(KIF5A):c.1097A>G (p.Glu366Gly)
|
rs2140163300
|
|
NM_004984.4(KIF5A):c.1106G>A (p.Arg369Gln)
|
|
|
NM_004984.4(KIF5A):c.1112G>A (p.Arg371His)
|
|
|
NM_004984.4(KIF5A):c.1116T>C (p.Asn372=)
|
|
|
NM_004984.4(KIF5A):c.1116T>G (p.Asn372Lys)
|
rs754551006
|
|
NM_004984.4(KIF5A):c.1117+7G>A
|
|
|
NM_004984.4(KIF5A):c.1117+9G>A
|
|
|
NM_004984.4(KIF5A):c.1118-12G>T
|
rs2140163551
|
|
NM_004984.4(KIF5A):c.1118-15C>T
|
|
|
NM_004984.4(KIF5A):c.1118-17G>A
|
|
|
NM_004984.4(KIF5A):c.1118-18C>G
|
|
|
NM_004984.4(KIF5A):c.1118-18C>T
|
|
|
NM_004984.4(KIF5A):c.1118-8del
|
|
|
NM_004984.4(KIF5A):c.1124A>G (p.Asn375Ser)
|
|
|
NM_004984.4(KIF5A):c.1128G>A (p.Val376=)
|
rs2140163565
|
|
NM_004984.4(KIF5A):c.1134G>A (p.Glu378=)
|
rs1306333808
|
|
NM_004984.4(KIF5A):c.1142G>T (p.Arg381Leu)
|
rs755855553
|
|
NM_004984.4(KIF5A):c.1144C>T (p.Leu382=)
|
|
|
NM_004984.4(KIF5A):c.1148C>T (p.Ala383Val)
|
|
|
NM_004984.4(KIF5A):c.1151G>A (p.Gly384Glu)
|
|
|
NM_004984.4(KIF5A):c.1153G>A (p.Glu385Lys)
|
rs753854351
|
|
NM_004984.4(KIF5A):c.1156G>C (p.Glu386Gln)
|
rs1052752751
|
|
NM_004984.4(KIF5A):c.1158G>A (p.Glu386=)
|
rs2140163611
|
|
NM_004984.4(KIF5A):c.1160C>T (p.Ala387Val)
|
rs2140163615
|
|
NM_004984.4(KIF5A):c.1163C>A (p.Ala388Asp)
|
rs1882197501
|
|
NM_004984.4(KIF5A):c.1165C>T (p.Leu389=)
|
|
|
NM_004984.4(KIF5A):c.1171G>A (p.Ala391Thr)
|
|
|
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=)
|
rs75907338
|
|
NM_004984.4(KIF5A):c.1176G>C (p.Glu392Asp)
|
rs75907338
|
|
NM_004984.4(KIF5A):c.1181G>A (p.Cys394Tyr)
|
|
|
NM_004984.4(KIF5A):c.118G>A (p.Val40Ile)
|
rs1565690660
|
|
NM_004984.4(KIF5A):c.1190C>A (p.Thr397Asn)
|
rs2140163650
|
|
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=)
|
rs1064797169
|
|
NM_004984.4(KIF5A):c.1194T>C (p.Pro398=)
|
|
|
NM_004984.4(KIF5A):c.1194T>G (p.Pro398=)
|
|
|
NM_004984.4(KIF5A):c.1199A>G (p.Asn400Ser)
|
|
|
NM_004984.4(KIF5A):c.1206C>T (p.Asn402=)
|
|
|
NM_004984.4(KIF5A):c.1208C>T (p.Ser403Leu)
|
|
|
NM_004984.4(KIF5A):c.120C>A (p.Val40=)
|
|
|
NM_004984.4(KIF5A):c.1213A>G (p.Ile405Val)
|
rs1313023330
|
|
NM_004984.4(KIF5A):c.1215C>A (p.Ile405=)
|
|
|
NM_004984.4(KIF5A):c.1215C>T (p.Ile405=)
|
rs267603611
|
|
NM_004984.4(KIF5A):c.1216G>A (p.Val406Met)
|
|
|
NM_004984.4(KIF5A):c.121G>A (p.Val41Ile)
|
rs1881531764
|
|
NM_004984.4(KIF5A):c.1222C>A (p.Arg408Ser)
|
rs767181570
|
|
NM_004984.4(KIF5A):c.1225A>G (p.Ile409Val)
|
|
|
NM_004984.4(KIF5A):c.1228G>A (p.Ala410Thr)
|
|
|
NM_004984.4(KIF5A):c.1229C>T (p.Ala410Val)
|
|
|
NM_004984.4(KIF5A):c.1230G>T (p.Ala410=)
|
|
|
NM_004984.4(KIF5A):c.1233C>A (p.Pro411=)
|
|
|
NM_004984.4(KIF5A):c.1233C>G (p.Pro411=)
|
rs757235645
|
|
NM_004984.4(KIF5A):c.1242G>A (p.Arg414=)
|
|
|
NM_004984.4(KIF5A):c.124A>G (p.Ile42Val)
|
|
|
NM_004984.4(KIF5A):c.1252G>A (p.Glu418Lys)
|
|
|
NM_004984.4(KIF5A):c.1255G>A (p.Glu419Lys)
|
|
|
NM_004984.4(KIF5A):c.1257G>T (p.Glu419Asp)
|
rs781663145
|
|
NM_004984.4(KIF5A):c.1261A>C (p.Ile421Leu)
|
|
|
NM_004984.4(KIF5A):c.1265G>A (p.Arg422His)
|
|
|
NM_004984.4(KIF5A):c.1267C>T (p.Arg423Cys)
|
|
|
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met)
|
rs149569914
|
|
NM_004984.4(KIF5A):c.1272_1273del (p.Leu424_Tyr425insTer)
|
|
|
NM_004984.4(KIF5A):c.1274A>G (p.Tyr425Cys)
|
|
|
NM_004984.4(KIF5A):c.1284T>C (p.Leu428=)
|
|
|
NM_004984.4(KIF5A):c.128G>C (p.Gly43Ala)
|
|
|
NM_004984.4(KIF5A):c.129+10G>T
|
rs1881532622
|
|
NM_004984.4(KIF5A):c.129+11C>G
|
|
|
NM_004984.4(KIF5A):c.129+18G>A
|
|
|
NM_004984.4(KIF5A):c.129+6T>A
|
|
|
NM_004984.4(KIF5A):c.1290C>G (p.Asp430Glu)
|
|
|
NM_004984.4(KIF5A):c.1293+12C>T
|
|
|
NM_004984.4(KIF5A):c.1293+16C>T
|
|
|
NM_004984.4(KIF5A):c.1293+7G>A
|
|
|
NM_004984.4(KIF5A):c.1293+8C>A
|
rs776493530
|
|
NM_004984.4(KIF5A):c.1294-10C>T
|
|
|
NM_004984.4(KIF5A):c.1297G>A (p.Asp433Asn)
|
|
|
NM_004984.4(KIF5A):c.129G>A (p.Gly43=)
|
|
|
NM_004984.4(KIF5A):c.130-14T>C
|
rs2140158725
|
|
NM_004984.4(KIF5A):c.130-16T>C
|
|
|
NM_004984.4(KIF5A):c.1305C>G (p.Ile435Met)
|
|
|
NM_004984.4(KIF5A):c.1307A>C (p.Asn436Thr)
|
|
|
NM_004984.4(KIF5A):c.1308C>T (p.Asn436=)
|
rs2140164720
|
|
NM_004984.4(KIF5A):c.1312C>G (p.Gln438Glu)
|
rs2140164723
|
|
NM_004984.4(KIF5A):c.1316G>C (p.Ser439Thr)
|
|
|
NM_004984.4(KIF5A):c.1317C>T (p.Ser439=)
|
|
|
NM_004984.4(KIF5A):c.1342C>T (p.Gln448Ter)
|
|
|
NM_004984.4(KIF5A):c.1357G>A (p.Glu453Lys)
|
|
|
NM_004984.4(KIF5A):c.1362+10G>C
|
|
|
NM_004984.4(KIF5A):c.1362+17C>A
|
rs372790531
|
|
NM_004984.4(KIF5A):c.1362+17C>G
|
|
|
NM_004984.4(KIF5A):c.1362+17C>T
|
|
|
NM_004984.4(KIF5A):c.1362+3A>C
|
|
|
NM_004984.4(KIF5A):c.1362+7G>A
|
rs1349376862
|
|
NM_004984.4(KIF5A):c.1362+8G>A
|
|
|
NM_004984.4(KIF5A):c.1363-11C>T
|
|
|
NM_004984.4(KIF5A):c.1363-13C>A
|
|
|
NM_004984.4(KIF5A):c.1363-13C>T
|
|
|
NM_004984.4(KIF5A):c.1363-4G>C
|
rs2140165168
|
|
NM_004984.4(KIF5A):c.1363-5T>C
|
rs747818828
|
|
NM_004984.4(KIF5A):c.136C>G (p.Pro46Ala)
|
|
|
NM_004984.4(KIF5A):c.1371G>A (p.Val457=)
|
rs1173503363
|
|
NM_004984.4(KIF5A):c.1379G>A (p.Arg460Gln)
|
|
|
NM_004984.4(KIF5A):c.1384G>C (p.Asp462His)
|
|
|
NM_004984.4(KIF5A):c.1395G>A (p.Lys465=)
|
|
|
NM_004984.4(KIF5A):c.1397T>C (p.Val466Ala)
|
rs2140165191
|
|
NM_004984.4(KIF5A):c.13A>G (p.Asn5Asp)
|
|
|
NM_004984.4(KIF5A):c.1402C>A (p.Arg468=)
|
rs771021589
|
|
NM_004984.4(KIF5A):c.1402C>T (p.Arg468Trp)
|
|
|
NM_004984.4(KIF5A):c.1409T>C (p.Leu470Pro)
|
|
|
NM_004984.4(KIF5A):c.1410G>A (p.Leu470=)
|
|
|
NM_004984.4(KIF5A):c.1416C>G (p.His472Gln)
|
|
|
NM_004984.4(KIF5A):c.1419G>T (p.Leu473=)
|
|
|
NM_004984.4(KIF5A):c.1422A>G (p.Gln474=)
|
rs1373971092
|
|
NM_004984.4(KIF5A):c.1422A>T (p.Gln474His)
|
rs1373971092
|
|
NM_004984.4(KIF5A):c.1428G>A (p.Glu476=)
|
|
|
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp)
|
rs1882274569
|
|
NM_004984.4(KIF5A):c.1435G>A (p.Ala479Thr)
|
rs2140165233
|
|
NM_004984.4(KIF5A):c.1437C>G (p.Ala479=)
|
|
|
NM_004984.4(KIF5A):c.1450G>T (p.Val484Leu)
|
|
|
NM_004984.4(KIF5A):c.1468G>A (p.Ala490Thr)
|
|
|
NM_004984.4(KIF5A):c.1470C>T (p.Ala490=)
|
|
|
NM_004984.4(KIF5A):c.1482G>A (p.Leu494=)
|
|
|
NM_004984.4(KIF5A):c.1486G>A (p.Val496Met)
|
rs2140165263
|
|
NM_004984.4(KIF5A):c.1500G>A (p.Gln500=)
|
|
|
NM_004984.4(KIF5A):c.151C>G (p.Arg51Gly)
|
rs769763596
|
|
NM_004984.4(KIF5A):c.1521G>A (p.Glu507=)
|
rs1882277764
|
|
NM_004984.4(KIF5A):c.1527C>A (p.Ser509Arg)
|
|
|
NM_004984.4(KIF5A):c.1537C>G (p.Gln513Glu)
|
|
|
NM_004984.4(KIF5A):c.1540C>A (p.Leu514Ile)
|
|
|
NM_004984.4(KIF5A):c.1541T>A (p.Leu514His)
|
rs2140165294
|
|
NM_004984.4(KIF5A):c.1548G>A (p.Val516=)
|
|
|
NM_004984.4(KIF5A):c.1550A>T (p.Asp517Val)
|
|
|
NM_004984.4(KIF5A):c.1557G>A (p.Leu519=)
|
|
|
NM_004984.4(KIF5A):c.1562A>G (p.Gln521Arg)
|
|
|
NM_004984.4(KIF5A):c.1569+4A>G
|
|
|
NM_004984.4(KIF5A):c.1569+8G>A
|
rs2140165313
|
|
NM_004984.4(KIF5A):c.1570-18C>T
|
|
|
NM_004984.4(KIF5A):c.1570-20A>G
|
|
|
NM_004984.4(KIF5A):c.1570-6C>T
|
|
|
NM_004984.4(KIF5A):c.1570-7T>C
|
rs2140165527
|
|
NM_004984.4(KIF5A):c.157T>C (p.Phe53Leu)
|
|
|
NM_004984.4(KIF5A):c.1588G>C (p.Glu530Gln)
|
|
|
NM_004984.4(KIF5A):c.1589A>G (p.Glu530Gly)
|
|
|
NM_004984.4(KIF5A):c.158T>C (p.Phe53Ser)
|
rs1555177348
|
|
NM_004984.4(KIF5A):c.1590G>A (p.Glu530=)
|
|
|
NM_004984.4(KIF5A):c.1590del (p.Glu530fs)
|
rs2140165538
|
|
NM_004984.4(KIF5A):c.1600C>A (p.Gln534Lys)
|
|
|
NM_004984.4(KIF5A):c.1601A>G (p.Gln534Arg)
|
|
|
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp)
|
rs1055742325
|
|
NM_004984.4(KIF5A):c.1618A>G (p.Ser540Gly)
|
rs1882291000
|
|
NM_004984.4(KIF5A):c.162C>T (p.Pro54=)
|
|
|
NM_004984.4(KIF5A):c.1637G>T (p.Arg546Leu)
|
|
|
NM_004984.4(KIF5A):c.163C>G (p.Pro55Ala)
|
|
|
NM_004984.4(KIF5A):c.1648G>A (p.Val550Met)
|
rs2140165608
|
|
NM_004984.4(KIF5A):c.164C>G (p.Pro55Arg)
|
|
|
NM_004984.4(KIF5A):c.1653G>T (p.Leu551=)
|
|
|
NM_004984.4(KIF5A):c.1656C>G (p.Asn552Lys)
|
rs776685173
|
|
NM_004984.4(KIF5A):c.1660C>T (p.Leu554=)
|
|
|
NM_004984.4(KIF5A):c.1662G>A (p.Leu554=)
|
rs2140165629
|
|
NM_004984.4(KIF5A):c.166A>C (p.Asn56His)
|
rs1162282839
|
|
NM_004984.4(KIF5A):c.1671T>A (p.Asp557Glu)
|
rs1594919820
|
|
NM_004984.4(KIF5A):c.1674G>A (p.Leu558=)
|
rs2140165640
|
|
NM_004984.4(KIF5A):c.1685G>A (p.Ser562Asn)
|
rs2140165648
|
|
NM_004984.4(KIF5A):c.1701C>T (p.Asn567=)
|
rs2140165659
|
|
NM_004984.4(KIF5A):c.1705G>A (p.Glu569Lys)
|
|
|
NM_004984.4(KIF5A):c.1716+10G>A
|
|
|
NM_004984.4(KIF5A):c.1716+11A>G
|
|
|
NM_004984.4(KIF5A):c.1717-10A>G
|
|
|
NM_004984.4(KIF5A):c.1717-12T>C
|
|
|
NM_004984.4(KIF5A):c.1717-13T>C
|
rs2140167357
|
|
NM_004984.4(KIF5A):c.1717-16_1717-14del
|
|
|
NM_004984.4(KIF5A):c.1717-19C>T
|
|
|
NM_004984.4(KIF5A):c.1717-6C>T
|
rs61935711
|
|
NM_004984.4(KIF5A):c.171G>A (p.Thr57=)
|
|
|
NM_004984.4(KIF5A):c.1728C>T (p.Ile576=)
|
|
|
NM_004984.4(KIF5A):c.1729A>G (p.Ser577Gly)
|
|
|
NM_004984.4(KIF5A):c.1741GAG[2] (p.Glu583del)
|
|
|
NM_004984.4(KIF5A):c.1741GAG[4] (p.Glu583dup)
|
rs1882381684
|
|
NM_004984.4(KIF5A):c.1743G>A (p.Glu581=)
|
|
|
NM_004984.4(KIF5A):c.1752C>T (p.Phe584=)
|
|
|
NM_004984.4(KIF5A):c.1759G>A (p.Ala587Thr)
|
|
|
NM_004984.4(KIF5A):c.1770C>T (p.Tyr590=)
|
|
|
NM_004984.4(KIF5A):c.1771A>G (p.Ile591Val)
|
|
|
NM_004984.4(KIF5A):c.1776C>T (p.Ser592=)
|
rs2140167424
|
|
NM_004984.4(KIF5A):c.1796A>C (p.Lys599Thr)
|
|
|
NM_004984.4(KIF5A):c.1797G>A (p.Lys599=)
|
|
|
NM_004984.4(KIF5A):c.1803G>A (p.Val601=)
|
|
|
NM_004984.4(KIF5A):c.1806C>T (p.Val602=)
|
|
|
NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln)
|
rs931757596
|
|
NM_004984.4(KIF5A):c.1816C>T (p.Arg606Trp)
|
|
|
NM_004984.4(KIF5A):c.1829A>G (p.Asn610Ser)
|
rs978303061
|
|
NM_004984.4(KIF5A):c.1829A>T (p.Asn610Ile)
|
rs978303061
|
|
NM_004984.4(KIF5A):c.1849C>G (p.Arg617Gly)
|
|
|
NM_004984.4(KIF5A):c.184G>C (p.Val62Leu)
|
rs2140158758
|
|
NM_004984.4(KIF5A):c.1894C>T (p.Leu632Phe)
|
|
|
NM_004984.4(KIF5A):c.1896C>A (p.Leu632=)
|
|
|
NM_004984.4(KIF5A):c.1897A>G (p.Ile633Val)
|
|
|
NM_004984.4(KIF5A):c.1900T>A (p.Ser634Thr)
|
rs1343792922
|
|
NM_004984.4(KIF5A):c.1901_1905delCTCAG (p.Ser634_Gln635insTer)
|
|
|
NM_004984.4(KIF5A):c.1905+17G>A
|
rs2140167547
|
|
NM_004984.4(KIF5A):c.1905+2_1905+3delinsGC
|
|
|
NM_004984.4(KIF5A):c.1905+5G>A
|
|
|
NM_004984.4(KIF5A):c.1905+9C>G
|
rs2140167541
|
|
NM_004984.4(KIF5A):c.1906-10C>G
|
rs561056213
|
|
NM_004984.4(KIF5A):c.1906-12T>C
|
|
|
NM_004984.4(KIF5A):c.1906-15A>G
|
|
|
NM_004984.4(KIF5A):c.1906-18C>T
|
rs764872296
|
|
NM_004984.4(KIF5A):c.1909G>A (p.Glu637Lys)
|
|
|
NM_004984.4(KIF5A):c.1911G>A (p.Glu637=)
|
|
|
NM_004984.4(KIF5A):c.1921C>T (p.Arg641Cys)
|
|
|
NM_004984.4(KIF5A):c.1922G>A (p.Arg641His)
|
|
|
NM_004984.4(KIF5A):c.1926G>C (p.Ser642=)
|
rs377649745
|
|
NM_004984.4(KIF5A):c.1929T>A (p.Leu643=)
|
rs1330835160
|
|
NM_004984.4(KIF5A):c.1929T>C (p.Leu643=)
|
|
|
NM_004984.4(KIF5A):c.1931C>T (p.Thr644Met)
|
|
|
NM_004984.4(KIF5A):c.1938C>T (p.Tyr646=)
|
|
|
NM_004984.4(KIF5A):c.1946G>A (p.Ser649Asn)
|
|
|
NM_004984.4(KIF5A):c.1948G>T (p.Val650Leu)
|
|
|
NM_004984.4(KIF5A):c.1953G>C (p.Glu651Asp)
|
|
|
NM_004984.4(KIF5A):c.1955T>C (p.Leu652Pro)
|
|
|
NM_004984.4(KIF5A):c.1956A>G (p.Leu652=)
|
|
|
NM_004984.4(KIF5A):c.1958A>G (p.Lys653Arg)
|
|
|
NM_004984.4(KIF5A):c.1959G>A (p.Lys653=)
|
|
|
NM_004984.4(KIF5A):c.1982A>G (p.Tyr661Cys)
|
|
|
NM_004984.4(KIF5A):c.1994G>A (p.Ser665Asn)
|
|
|
NM_004984.4(KIF5A):c.1998T>C (p.Asp666=)
|
rs1594922304
|
|
NM_004984.4(KIF5A):c.199G>C (p.Ala67Pro)
|
|
|
NM_004984.4(KIF5A):c.2002C>G (p.Leu668Val)
|
|
|
NM_004984.4(KIF5A):c.2010G>C (p.Lys670Asn)
|
|
|
NM_004984.4(KIF5A):c.2023+12T>C
|
|
|
NM_004984.4(KIF5A):c.2023+16A>G
|
|
|
NM_004984.4(KIF5A):c.2024-13C>T
|
rs1265099591
|
|
NM_004984.4(KIF5A):c.2024-5C>T
|
|
|
NM_004984.4(KIF5A):c.2024-6C>T
|
|
|
NM_004984.4(KIF5A):c.2030_2031del (p.Val677fs)
|
|
|
NM_004984.4(KIF5A):c.2039T>C (p.Val680Ala)
|
|
|
NM_004984.4(KIF5A):c.203T>C (p.Met68Thr)
|
|
|
NM_004984.4(KIF5A):c.203T>G (p.Met68Arg)
|
|
|
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
|
|
|
NM_004984.4(KIF5A):c.2055G>A (p.Lys685=)
|
rs2140168069
|
|
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
|
|
|
NM_004984.4(KIF5A):c.2068C>T (p.Gln690Ter)
|
|
|
NM_004984.4(KIF5A):c.2079T>C (p.Asp693=)
|
rs756599532
|
|
NM_004984.4(KIF5A):c.2083G>A (p.Val695Met)
|
|
|
NM_004984.4(KIF5A):c.2088+15T>C
|
|
|
NM_004984.4(KIF5A):c.2088+17T>A
|
|
|
NM_004984.4(KIF5A):c.2088+3G>A
|
|
|
NM_004984.4(KIF5A):c.2089-11G>T
|
rs755221355
|
|
NM_004984.4(KIF5A):c.2089-11del
|
|
|
NM_004984.4(KIF5A):c.2089-13G>C
|
rs2140168188
|
|
NM_004984.4(KIF5A):c.2089-14G>A
|
rs2140168183
|
|
NM_004984.4(KIF5A):c.2089-14_2089-10del
|
rs1282416657
|
|
NM_004984.4(KIF5A):c.2089-16G>A
|
|
|
NM_004984.4(KIF5A):c.2089-18G>A
|
|
|
NM_004984.4(KIF5A):c.2089-4G>C
|
|
|
NM_004984.4(KIF5A):c.2097G>A (p.Leu699=)
|
|
|
NM_004984.4(KIF5A):c.2103G>A (p.Leu701=)
|
|
|
NM_004984.4(KIF5A):c.2114G>T (p.Ser705Ile)
|
|
|
NM_004984.4(KIF5A):c.2118C>T (p.His706=)
|
|
|
NM_004984.4(KIF5A):c.2133C>T (p.His711=)
|
|
|
NM_004984.4(KIF5A):c.2139G>C (p.Gln713His)
|
rs2140168258
|
|
NM_004984.4(KIF5A):c.2146C>A (p.Arg716=)
|
rs377539747
|
|
NM_004984.4(KIF5A):c.2153G>A (p.Arg718Gln)
|
|
|
NM_004984.4(KIF5A):c.2155G>T (p.Asp719Tyr)
|
|
|
NM_004984.4(KIF5A):c.2158G>A (p.Glu720Lys)
|
|
|
NM_004984.4(KIF5A):c.2159A>T (p.Glu720Val)
|
rs2140168286
|
|
NM_004984.4(KIF5A):c.215A>G (p.Lys72Arg)
|
|
|
NM_004984.4(KIF5A):c.2162T>G (p.Ile721Ser)
|
rs879254299
|
|
NM_004984.4(KIF5A):c.2166C>T (p.Asn722=)
|
|
|
NM_004984.4(KIF5A):c.2167G>A (p.Glu723Lys)
|
|
|
NM_004984.4(KIF5A):c.217+11dup
|
|
|
NM_004984.4(KIF5A):c.217+6A>C
|
|
|
NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)
|
|
|
NM_004984.4(KIF5A):c.2178G>A (p.Lys726=)
|
|
|
NM_004984.4(KIF5A):c.218-11G>A
|
|
|
NM_004984.4(KIF5A):c.218-11G>C
|
|
|
NM_004984.4(KIF5A):c.218-12T>C
|
|
|
NM_004984.4(KIF5A):c.218-14A>G
|
|
|
NM_004984.4(KIF5A):c.218-16C>T
|
rs900924640
|
|
NM_004984.4(KIF5A):c.218-17T>C
|
rs2140158825
|
|
NM_004984.4(KIF5A):c.218-19T>C
|
rs2140158822
|
|
NM_004984.4(KIF5A):c.218-20T>G
|
|
|
NM_004984.4(KIF5A):c.218-7C>G
|
rs1377018724
|
|
NM_004984.4(KIF5A):c.218-9C>T
|
rs936245243
|
|
NM_004984.4(KIF5A):c.2180C>A (p.Thr727Asn)
|
|
|
NM_004984.4(KIF5A):c.2180C>T (p.Thr727Ile)
|
|
|
NM_004984.4(KIF5A):c.2181C>T (p.Thr727=)
|
rs754410882
|
|
NM_004984.4(KIF5A):c.2189A>G (p.Glu730Gly)
|
rs751019108
|
|
NM_004984.4(KIF5A):c.2193C>G (p.Leu731=)
|
rs1565702439
|
|
NM_004984.4(KIF5A):c.2194A>G (p.Lys732Glu)
|
|
|
NM_004984.4(KIF5A):c.2198+16G>A
|
|
|
NM_004984.4(KIF5A):c.2198+18C>T
|
|
|
NM_004984.4(KIF5A):c.2198+4A>G
|
|
|
NM_004984.4(KIF5A):c.2198+6G>C
|
|
|
NM_004984.4(KIF5A):c.2199-15del
|
|
|
NM_004984.4(KIF5A):c.2199-8C>T
|
|
|
NM_004984.4(KIF5A):c.2199-9G>C
|
|
|
NM_004984.4(KIF5A):c.2211G>A (p.Lys737=)
|
rs2140168629
|
|
NM_004984.4(KIF5A):c.2214C>G (p.Leu738=)
|
|
|
NM_004984.4(KIF5A):c.2216A>G (p.Gln739Arg)
|
rs2140168633
|
|
NM_004984.4(KIF5A):c.2217G>A (p.Gln739=)
|
rs755813386
|
|
NM_004984.4(KIF5A):c.2227G>A (p.Glu743Lys)
|
rs1369177203
|
|
NM_004984.4(KIF5A):c.222C>G (p.Val74=)
|
|
|
NM_004984.4(KIF5A):c.2240C>G (p.Ala747Gly)
|
rs749023785
|
|
NM_004984.4(KIF5A):c.2261G>T (p.Ser754Ile)
|
rs1882441483
|
|
NM_004984.4(KIF5A):c.2262C>G (p.Ser754Arg)
|
rs143260492
|
|
NM_004984.4(KIF5A):c.2275A>C (p.Lys759Gln)
|
|
|
NM_004984.4(KIF5A):c.2278A>G (p.Ser760Gly)
|
|
|
NM_004984.4(KIF5A):c.22T>C (p.Cys8Arg)
|
|
|
NM_004984.4(KIF5A):c.2300+22_2300+36del
|
rs2140168722
|
|
NM_004984.4(KIF5A):c.2300C>G (p.Thr767Arg)
|
rs765493045
|
|
NM_004984.4(KIF5A):c.2300C>T (p.Thr767Ile)
|
|
|
NM_004984.4(KIF5A):c.2301-10C>T
|
|
|
NM_004984.4(KIF5A):c.2301-20C>T
|
rs2140169231
|
|
NM_004984.4(KIF5A):c.2304T>C (p.Phe768=)
|
rs773966928
|
|
NM_004984.4(KIF5A):c.2307G>A (p.Leu769=)
|
rs1365812959
|
|
NM_004984.4(KIF5A):c.230G>A (p.Gly77Asp)
|
rs1060502525
|
|
NM_004984.4(KIF5A):c.2311G>A (p.Glu771Lys)
|
|
|
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter)
|
rs1555178616
|
|
NM_004984.4(KIF5A):c.2315G>A (p.Arg772Gln)
|
rs537001094
|
|
NM_004984.4(KIF5A):c.2318A>G (p.His773Arg)
|
|
|
NM_004984.4(KIF5A):c.2327C>T (p.Ser776Phe)
|
|
|
NM_004984.4(KIF5A):c.2330A>G (p.Lys777Arg)
|
|
|
NM_004984.4(KIF5A):c.2333A>G (p.Gln778Arg)
|
rs2140169276
|
|
NM_004984.4(KIF5A):c.2358A>G (p.Thr786=)
|
|
|
NM_004984.4(KIF5A):c.2360T>C (p.Val787Ala)
|
rs2140169303
|
|
NM_004984.4(KIF5A):c.2361+14T>C
|
rs2140169321
|
|
NM_004984.4(KIF5A):c.2361+16C>A
|
rs1031343176
|
|
NM_004984.4(KIF5A):c.2361+6T>C
|
|
|
NM_004984.4(KIF5A):c.2362-10T>C
|
|
|
NM_004984.4(KIF5A):c.2362-12C>A
|
|
|
NM_004984.4(KIF5A):c.2362-19T>C
|
|
|
NM_004984.4(KIF5A):c.2362-6T>C
|
|
|
NM_004984.4(KIF5A):c.2366G>A (p.Arg789Gln)
|
|
|
NM_004984.4(KIF5A):c.2383C>T (p.His795Tyr)
|
|
|
NM_004984.4(KIF5A):c.2390T>C (p.Leu797Pro)
|
|
|
NM_004984.4(KIF5A):c.2393G>A (p.Arg798His)
|
rs940071825
|
|
NM_004984.4(KIF5A):c.2400G>C (p.Leu800=)
|
|
|
NM_004984.4(KIF5A):c.2417C>T (p.Thr806Met)
|
|
|
NM_004984.4(KIF5A):c.2418G>C (p.Thr806=)
|
|
|
NM_004984.4(KIF5A):c.2422C>A (p.Arg808=)
|
|
|
NM_004984.4(KIF5A):c.2423G>A (p.Arg808Gln)
|
|
|
NM_004984.4(KIF5A):c.2427C>T (p.Val809=)
|
|
|
NM_004984.4(KIF5A):c.2433+14T>G
|
|
|
NM_004984.4(KIF5A):c.2433+18G>A
|
rs1594924065
|
|
NM_004984.4(KIF5A):c.2433+8C>T
|
|
|
NM_004984.4(KIF5A):c.2434-12A>G
|
|
|
NM_004984.4(KIF5A):c.2434-14C>G
|
|
|
NM_004984.4(KIF5A):c.2434-15del
|
rs759514259
|
|
NM_004984.4(KIF5A):c.2434A>G (p.Ser812Gly)
|
|
|
NM_004984.4(KIF5A):c.2436T>G (p.Ser812Arg)
|
|
|
NM_004984.4(KIF5A):c.243C>A (p.Thr81=)
|
|
|
NM_004984.4(KIF5A):c.243C>T (p.Thr81=)
|
|
|
NM_004984.4(KIF5A):c.2448G>A (p.Glu816=)
|
|
|
NM_004984.4(KIF5A):c.244A>G (p.Ile82Val)
|
|
|
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=)
|
rs759472256
|
|
NM_004984.4(KIF5A):c.2475C>T (p.Ser825=)
|
|
|
NM_004984.4(KIF5A):c.2480A>G (p.Lys827Arg)
|
rs1882491979
|
|
NM_004984.4(KIF5A):c.2483AGA[1] (p.Lys829del)
|
|
|
NM_004984.4(KIF5A):c.2492C>T (p.Ser831Phe)
|
rs193920755
|
|
NM_004984.4(KIF5A):c.2538+13T>C
|
|
|
NM_004984.4(KIF5A):c.2538+18G>A
|
rs747524040
|
|
NM_004984.4(KIF5A):c.2538+5G>C
|
rs2140169708
|
|
NM_004984.4(KIF5A):c.2538+9C>T
|
|
|
NM_004984.4(KIF5A):c.2539-13G>T
|
rs1057523621
|
|
NM_004984.4(KIF5A):c.2539-14G>A
|
|
|
NM_004984.4(KIF5A):c.2539-15T>C
|
|
|
NM_004984.4(KIF5A):c.2539-15del
|
|
|
NM_004984.4(KIF5A):c.2539-18C>T
|
rs2140171386
|
|
NM_004984.4(KIF5A):c.2539-6C>T
|
|
|
NM_004984.4(KIF5A):c.2539-8C>G
|
rs2140171397
|
|
NM_004984.4(KIF5A):c.2539-9G>C
|
|
|
NM_004984.4(KIF5A):c.2539C>A (p.Leu847Met)
|
|
|
NM_004984.4(KIF5A):c.2545C>T (p.Arg849Cys)
|
rs2140171409
|
|
NM_004984.4(KIF5A):c.2550C>T (p.Asp850=)
|
|
|
NM_004984.4(KIF5A):c.255T>C (p.Tyr85=)
|
rs1881978589
|
|
NM_004984.4(KIF5A):c.2578A>C (p.Lys860Gln)
|
|
|
NM_004984.4(KIF5A):c.2589A>G (p.Lys863=)
|
|
|
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter)
|
rs1882578572
|
|
NM_004984.4(KIF5A):c.2604G>A (p.Thr868=)
|
|
|
NM_004984.4(KIF5A):c.2608G>T (p.Glu870Ter)
|
rs1594925773
|
|
NM_004984.4(KIF5A):c.260A>G (p.Gln87Arg)
|
|
|
NM_004984.4(KIF5A):c.2618A>C (p.Lys873Thr)
|
|
|
NM_004984.4(KIF5A):c.2621C>G (p.Ala874Gly)
|
|
|
NM_004984.4(KIF5A):c.2629G>A (p.Gly877Ser)
|
|
|
NM_004984.4(KIF5A):c.2631T>C (p.Gly877=)
|
|
|
NM_004984.4(KIF5A):c.2653G>A (p.Gly885Ser)
|
|
|
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser)
|
rs1017745641
|
|
NM_004984.4(KIF5A):c.2659_2674del (p.Met887fs)
|
rs2140171473
|
|
NM_004984.4(KIF5A):c.2664G>T (p.Lys888Asn)
|
|
|
NM_004984.4(KIF5A):c.266C>A (p.Ser89Tyr)
|
rs2140158856
|
|
NM_004984.4(KIF5A):c.2672G>T (p.Arg891Leu)
|
|
|
NM_004984.4(KIF5A):c.2674C>T (p.Arg892Trp)
|
rs267603612
|
|
NM_004984.4(KIF5A):c.2675G>A (p.Arg892Gln)
|
|
|
NM_004984.4(KIF5A):c.2685G>A (p.Gln895=)
|
|
|
NM_004984.4(KIF5A):c.2695C>A (p.Arg899Ser)
|
|
|
NM_004984.4(KIF5A):c.2695C>T (p.Arg899Cys)
|
|
|
NM_004984.4(KIF5A):c.2696G>A (p.Arg899His)
|
|
|
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu)
|
rs1060502524
|
|
NM_004984.4(KIF5A):c.2700C>T (p.Ile900=)
|
|
|
NM_004984.4(KIF5A):c.2709C>T (p.Ala903=)
|
|
|
NM_004984.4(KIF5A):c.270A>T (p.Ser90=)
|
rs2140158864
|
|
NM_004984.4(KIF5A):c.2719A>G (p.Lys907Glu)
|
|
|
NM_004984.4(KIF5A):c.2720A>T (p.Lys907Met)
|
|
|
NM_004984.4(KIF5A):c.2722A>C (p.Ser908Arg)
|
rs2140171539
|
|
NM_004984.4(KIF5A):c.2723G>C (p.Ser908Thr)
|
rs748632605
|
|
NM_004984.4(KIF5A):c.2726C>T (p.Ser909Leu)
|
rs267603613
|
|
NM_004984.4(KIF5A):c.272G>A (p.Gly91Glu)
|
|
|
NM_004984.4(KIF5A):c.2732A>C (p.Lys911Thr)
|
|
|
NM_004984.4(KIF5A):c.2732A>G (p.Lys911Arg)
|
rs199953180
|
|
NM_004984.4(KIF5A):c.2735G>C (p.Arg912Pro)
|
|
|
NM_004984.4(KIF5A):c.2738G>T (p.Gly913Val)
|
|
|
NM_004984.4(KIF5A):c.2739C>G (p.Gly913=)
|
rs1435453925
|
|
NM_004984.4(KIF5A):c.2741A>G (p.His914Arg)
|
rs1882585121
|
|
NM_004984.4(KIF5A):c.2755+16C>T
|
|
|
NM_004984.4(KIF5A):c.2755+3G>C
|
rs1416076720
|
|
NM_004984.4(KIF5A):c.2755+4A>C
|
|
|
NM_004984.4(KIF5A):c.2755+8G>A
|
|
|
NM_004984.4(KIF5A):c.2755+9G>A
|
|
|
NM_004984.4(KIF5A):c.2756-2A>G
|
|
|
NM_004984.4(KIF5A):c.2756-4G>A
|
|
|
NM_004984.4(KIF5A):c.2756-5T>G
|
|
|
NM_004984.4(KIF5A):c.2756-8T>C
|
|
|
NM_004984.4(KIF5A):c.275A>C (p.Lys92Thr)
|
rs2140158867
|
|
NM_004984.4(KIF5A):c.2764G>A (p.Val922Ile)
|
rs763041798
|
|
NM_004984.4(KIF5A):c.2768G>A (p.Arg923Gln)
|
|
|
NM_004984.4(KIF5A):c.2771C>T (p.Pro924Leu)
|
|
|
NM_004984.4(KIF5A):c.2778C>A (p.His926Gln)
|
|
|
NM_004984.4(KIF5A):c.2783C>A (p.Pro928Gln)
|
|
|
NM_004984.4(KIF5A):c.2784A>G (p.Pro928=)
|
rs1467156414
|
|
NM_004984.4(KIF5A):c.2788T>C (p.Ser930Pro)
|
|
|
NM_004984.4(KIF5A):c.2790C>G (p.Ser930=)
|
|
|
NM_004984.4(KIF5A):c.2800A>G (p.Asn934Asp)
|
|
|
NM_004984.4(KIF5A):c.2802C>T (p.Asn934=)
|
rs1381639610
|
|
NM_004984.4(KIF5A):c.2804C>T (p.Pro935Leu)
|
rs1272664645
|
|
NM_004984.4(KIF5A):c.2807A>G (p.Tyr936Cys)
|
|
|
NM_004984.4(KIF5A):c.2808T>C (p.Tyr936=)
|
|
|
NM_004984.4(KIF5A):c.280C>T (p.His94Tyr)
|
|
|
NM_004984.4(KIF5A):c.2810G>A (p.Gly937Asp)
|
|
|
NM_004984.4(KIF5A):c.2815C>T (p.Arg939Trp)
|
rs779422769
|
|
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
|
|
|
NM_004984.4(KIF5A):c.2817G>A (p.Arg939=)
|
|
|
NM_004984.4(KIF5A):c.2826del (p.Glu942fs)
|
rs1594926154
|
|
NM_004984.4(KIF5A):c.2833A>G (p.Ser945Gly)
|
|
|
NM_004984.4(KIF5A):c.2837A>G (p.Tyr946Cys)
|
|
|
NM_004984.4(KIF5A):c.2840C>G (p.Thr947Ser)
|
|
|
NM_004984.4(KIF5A):c.2843A>G (p.Asn948Ser)
|
|
|
NM_004984.4(KIF5A):c.285C>T (p.Thr95=)
|
|
|
NM_004984.4(KIF5A):c.2869C>T (p.Leu957Phe)
|
rs1882602063
|
|
NM_004984.4(KIF5A):c.2889C>G (p.Pro963=)
|
|
|
NM_004984.4(KIF5A):c.2894C>T (p.Ser965Phe)
|
|
|
NM_004984.4(KIF5A):c.28A>G (p.Ile10Val)
|
rs2140150109
|
|
NM_004984.4(KIF5A):c.2902G>C (p.Asp968His)
|
rs764332673
|
|
NM_004984.4(KIF5A):c.2909+10C>T
|
|
|
NM_004984.4(KIF5A):c.2909+11A>G
|
|
|
NM_004984.4(KIF5A):c.2909+12C>T
|
|
|
NM_004984.4(KIF5A):c.2909+18T>C
|
|
|
NM_004984.4(KIF5A):c.2909+4A>G
|
rs2140171881
|
|
NM_004984.4(KIF5A):c.2909A>G (p.Tyr970Cys)
|
rs1484472471
|
|
NM_004984.4(KIF5A):c.291+18G>T
|
|
|
NM_004984.4(KIF5A):c.291+6G>C
|
|
|
NM_004984.4(KIF5A):c.2910-10C>T
|
|
|
NM_004984.4(KIF5A):c.2910-13C>G
|
|
|
NM_004984.4(KIF5A):c.2910-17T>C
|
|
|
NM_004984.4(KIF5A):c.2910-3C>G
|
|
|
NM_004984.4(KIF5A):c.2910-4_2910-3delinsTT
|
rs2140172085
|
|
NM_004984.4(KIF5A):c.2913_2914insA (p.Ala972fs)
|
rs1565705251
|
|
NM_004984.4(KIF5A):c.2916A>C (p.Ala972=)
|
|
|
NM_004984.4(KIF5A):c.2919C>G (p.Asn973Lys)
|
|
|
NM_004984.4(KIF5A):c.292-14C>T
|
|
|
NM_004984.4(KIF5A):c.292-5G>T
|
rs201917057
|
|
NM_004984.4(KIF5A):c.2922C>T (p.Ser974=)
|
|
|
NM_004984.4(KIF5A):c.2923T>G (p.Cys975Gly)
|
|
|
NM_004984.4(KIF5A):c.2930G>A (p.Ser977Asn)
|
|
|
NM_004984.4(KIF5A):c.2930G>C (p.Ser977Thr)
|
rs1159045681
|
|
NM_004984.4(KIF5A):c.2933G>C (p.Ser978Thr)
|
|
|
NM_004984.4(KIF5A):c.2934T>G (p.Ser978Arg)
|
|
|
NM_004984.4(KIF5A):c.2936G>A (p.Gly979Glu)
|
|
|
NM_004984.4(KIF5A):c.2936G>C (p.Gly979Ala)
|
rs1156869738
|
|
NM_004984.4(KIF5A):c.2942C>A (p.Thr981Lys)
|
|
|
NM_004984.4(KIF5A):c.2945C>T (p.Ser982Phe)
|
rs1211468940
|
|
NM_004984.4(KIF5A):c.2952C>A (p.Gly984=)
|
|
|
NM_004984.4(KIF5A):c.2952C>T (p.Gly984=)
|
|
|
NM_004984.4(KIF5A):c.2953G>T (p.Gly985Cys)
|
rs371548640
|
|
NM_004984.4(KIF5A):c.2956C>A (p.Pro986Thr)
|
|
|
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg)
|
rs113247976
|
|
NM_004984.4(KIF5A):c.2958C>T (p.Pro986=)
|
rs1236499166
|
|
NM_004984.4(KIF5A):c.297G>T (p.Lys99Asn)
|
|
|
NM_004984.4(KIF5A):c.2992+12dup
|
rs576635518
|
|
NM_004984.4(KIF5A):c.2992+18G>C
|
rs745773241
|
|
NM_004984.4(KIF5A):c.2992+20A>T
|
|
|
NM_004984.4(KIF5A):c.2992+8A>G
|
|
|
NM_004984.4(KIF5A):c.2993-12T>G
|
rs542701424
|
|
NM_004984.4(KIF5A):c.2993-13A>C
|
rs2140172663
|
|
NM_004984.4(KIF5A):c.2993-15T>C
|
|
|
NM_004984.4(KIF5A):c.2993-16A>G
|
rs1172104617
|
|
NM_004984.4(KIF5A):c.2993-17_2993-15del
|
|
|
NM_004984.4(KIF5A):c.2993-20C>G
|
|
|
NM_004984.4(KIF5A):c.2993-20C>T
|
rs375827219
|
|
NM_004984.4(KIF5A):c.2993-3C>T
|
rs1402429085
|
|
NM_004984.4(KIF5A):c.2994_2996del (p.Asn999del)
|
|
|
NM_004984.4(KIF5A):c.2996del (p.Asn999fs)
|
rs2140172678
|
|
NM_004984.4(KIF5A):c.3000C>G (p.Ala1000=)
|
|
|
NM_004984.4(KIF5A):c.3002C>T (p.Thr1001Ile)
|
rs2140172682
|
|
NM_004984.4(KIF5A):c.3002del (p.Thr1001fs)
|
|
|
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)
|
rs1882640177
|
|
NM_004984.4(KIF5A):c.3017A>G (p.Asn1006Ser)
|
rs2140172688
|
|
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly)
|
rs1555179087
|
|
NM_004984.4(KIF5A):c.3020+11C>A
|
|
|
NM_004984.4(KIF5A):c.3020+19C>T
|
rs780107972
|
|
NM_004984.4(KIF5A):c.3020+1G>C
|
rs1555179091
|
|
NM_004984.4(KIF5A):c.3020+1G>T
|
rs1555179091
|
|
NM_004984.4(KIF5A):c.3020+22del
|
rs751099911
|
|
NM_004984.4(KIF5A):c.3020+3A>G
|
|
|
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys)
|
rs1060502523
|
|
NM_004984.4(KIF5A):c.3020G>T (p.Arg1007Met)
|
|
|
NM_004984.4(KIF5A):c.3021-18G>A
|
rs768178863
|
|
NM_004984.4(KIF5A):c.3021-6C>T
|
|
|
NM_004984.4(KIF5A):c.3027C>G (p.Asp1009Glu)
|
|
|
NM_004984.4(KIF5A):c.3030G>A (p.Leu1010=)
|
rs1231817690
|
|
NM_004984.4(KIF5A):c.3031C>A (p.Pro1011Thr)
|
|
|
NM_004984.4(KIF5A):c.3033G>T (p.Pro1011=)
|
|
|
NM_004984.4(KIF5A):c.3036T>G (p.Cys1012Trp)
|
|
|
NM_004984.4(KIF5A):c.3039C>G (p.Gly1013=)
|
|
|
NM_004984.4(KIF5A):c.303C>T (p.His101=)
|
rs769191561
|
|
NM_004984.4(KIF5A):c.3041A>G (p.Tyr1014Cys)
|
|
|
NM_004984.4(KIF5A):c.304G>A (p.Asp102Asn)
|
|
|
NM_004984.4(KIF5A):c.3055C>G (p.Gln1019Glu)
|
rs2140173025
|
|
NM_004984.4(KIF5A):c.3062A>C (p.Lys1021Thr)
|
rs1186511989
|
|
NM_004984.4(KIF5A):c.3067T>C (p.Phe1023Leu)
|
|
|
NM_004984.4(KIF5A):c.3074T>C (p.Leu1025Pro)
|
|
|
NM_004984.4(KIF5A):c.3081A>G (p.Gln1027=)
|
|
|
NM_004984.4(KIF5A):c.3082G>A (p.Glu1028Lys)
|
rs1882658654
|
|
NM_004984.4(KIF5A):c.3086C>T (p.Thr1029Ile)
|
|
|
NM_004984.4(KIF5A):c.3089C>A (p.Ala1030Glu)
|
rs1206507768
|
|
NM_004984.4(KIF5A):c.3091G>C (p.Ala1031Pro)
|
rs749631031
|
|
NM_004984.4(KIF5A):c.3096C>T (p.Ser1032=)
|
rs2140173077
|
|
NM_004984.4(KIF5A):c.30C>A (p.Ile10=)
|
|
|
NM_004984.4(KIF5A):c.327T>A (p.Ile109=)
|
rs777103564
|
|
NM_004984.4(KIF5A):c.327T>G (p.Ile109Met)
|
rs777103564
|
|
NM_004984.4(KIF5A):c.334A>G (p.Ile112Val)
|
|
|
NM_004984.4(KIF5A):c.340_357dup (p.Arg114_His119dup)
|
rs2140159152
|
|
NM_004984.4(KIF5A):c.343G>A (p.Asp115Asn)
|
|
|
NM_004984.4(KIF5A):c.37C>G (p.Leu13Val)
|
|
|
NM_004984.4(KIF5A):c.382G>A (p.Glu128Lys)
|
rs2140159178
|
|
NM_004984.4(KIF5A):c.396+16C>T
|
|
|
NM_004984.4(KIF5A):c.396+18G>T
|
|
|
NM_004984.4(KIF5A):c.396+5C>T
|
|
|
NM_004984.4(KIF5A):c.397-16_397-14del
|
rs375316447
|
|
NM_004984.4(KIF5A):c.3G>A (p.Met1Ile)
|
|
|
NM_004984.4(KIF5A):c.405C>T (p.Tyr135=)
|
|
|
NM_004984.4(KIF5A):c.414T>G (p.Ile138Met)
|
|
|
NM_004984.4(KIF5A):c.41G>A (p.Cys14Tyr)
|
|
|
NM_004984.4(KIF5A):c.427A>C (p.Ile143Leu)
|
|
|
NM_004984.4(KIF5A):c.428T>C (p.Ile143Thr)
|
rs2140159373
|
|
NM_004984.4(KIF5A):c.42C>T (p.Cys14=)
|
|
|
NM_004984.4(KIF5A):c.431G>A (p.Arg144His)
|
|
|
NM_004984.4(KIF5A):c.433G>C (p.Asp145His)
|
rs1060502522
|
|
NM_004984.4(KIF5A):c.43C>T (p.Arg15Ter)
|
rs2140150119
|
|
NM_004984.4(KIF5A):c.445+14C>T
|
|
|
NM_004984.4(KIF5A):c.445+16del
|
rs1410804703
|
|
NM_004984.4(KIF5A):c.445+18G>A
|
|
|
NM_004984.4(KIF5A):c.446-16del
|
|
|
NM_004984.4(KIF5A):c.446-19C>T
|
|
|
NM_004984.4(KIF5A):c.450C>A (p.Thr150=)
|
rs369182603
|
|
NM_004984.4(KIF5A):c.453G>A (p.Lys151=)
|
|
|
NM_004984.4(KIF5A):c.462G>C (p.Leu154=)
|
rs1882017601
|
|
NM_004984.4(KIF5A):c.465C>G (p.Ser155=)
|
|
|
NM_004984.4(KIF5A):c.466G>A (p.Val156Met)
|
|
|
NM_004984.4(KIF5A):c.472G>A (p.Glu158Lys)
|
|
|
NM_004984.4(KIF5A):c.474G>T (p.Glu158Asp)
|
|
|
NM_004984.4(KIF5A):c.475G>T (p.Asp159Tyr)
|
|
|
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)
|
rs748551786
|
|
NM_004984.4(KIF5A):c.485G>A (p.Arg162Gln)
|
|
|
NM_004984.4(KIF5A):c.492A>G (p.Pro164=)
|
rs2140159692
|
|
NM_004984.4(KIF5A):c.4_5delinsAA (p.Ala2Lys)
|
rs2140150082
|
|
NM_004984.4(KIF5A):c.500A>C (p.Lys167Thr)
|
rs2140159698
|
|
NM_004984.4(KIF5A):c.500del (p.Lys167fs)
|
|
|
NM_004984.4(KIF5A):c.501+11G>A
|
|
|
NM_004984.4(KIF5A):c.501+18G>A
|
rs2140159719
|
|
NM_004984.4(KIF5A):c.501+20A>G
|
rs2140159724
|
|
NM_004984.4(KIF5A):c.501+20_501+32del
|
|
|
NM_004984.4(KIF5A):c.501+6A>C
|
rs2140159703
|
|
NM_004984.4(KIF5A):c.502-17C>A
|
|
|
NM_004984.4(KIF5A):c.502-19_502-18del
|
rs770023686
|
|
NM_004984.4(KIF5A):c.502-9C>A
|
rs755065220
|
|
NM_004984.4(KIF5A):c.502G>A (p.Gly168Ser)
|
rs2140161194
|
|
NM_004984.4(KIF5A):c.503G>A (p.Gly168Asp)
|
|
|
NM_004984.4(KIF5A):c.504T>C (p.Gly168=)
|
|
|
NM_004984.4(KIF5A):c.506G>A (p.Cys169Tyr)
|
|
|
NM_004984.4(KIF5A):c.514C>T (p.Arg172Cys)
|
rs1159429693
|
|
NM_004984.4(KIF5A):c.51G>T (p.Arg17=)
|
|
|
NM_004984.4(KIF5A):c.530C>G (p.Pro177Arg)
|
rs1319232269
|
|
NM_004984.4(KIF5A):c.544G>T (p.Asp182Tyr)
|
|
|
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr)
|
rs1882089233
|
|
NM_004984.4(KIF5A):c.552_555del (p.Ile184fs)
|
|
|
NM_004984.4(KIF5A):c.555T>C (p.Asp185=)
|
|
|
NM_004984.4(KIF5A):c.565T>G (p.Ser189Ala)
|
rs2140161267
|
|
NM_004984.4(KIF5A):c.571C>T (p.Arg191Cys)
|
|
|
NM_004984.4(KIF5A):c.577G>A (p.Val193Met)
|
|
|
NM_004984.4(KIF5A):c.580G>A (p.Ala194Thr)
|
|
|
NM_004984.4(KIF5A):c.583G>A (p.Val195Ile)
|
|
|
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala)
|
rs1565697675
|
|
NM_004984.4(KIF5A):c.589+14C>A
|
|
|
NM_004984.4(KIF5A):c.589+20G>A
|
|
|
NM_004984.4(KIF5A):c.589+20del
|
rs2140161312
|
|
NM_004984.4(KIF5A):c.589+7G>A
|
rs921831469
|
|
NM_004984.4(KIF5A):c.589+9G>C
|
|
|
NM_004984.4(KIF5A):c.590-10G>C
|
|
|
NM_004984.4(KIF5A):c.590-17C>T
|
|
|
NM_004984.4(KIF5A):c.590-3C>T
|
rs1882102799
|
|
NM_004984.4(KIF5A):c.591C>T (p.Asn197=)
|
|
|
NM_004984.4(KIF5A):c.593T>C (p.Met198Thr)
|
|
|
NM_004984.4(KIF5A):c.597T>G (p.Asn199Lys)
|
rs11172251
|
|
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)
|
rs1555177629
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
NM_004984.4(KIF5A):c.611G>T (p.Arg204Leu)
|
|
|
NM_004984.4(KIF5A):c.621C>A (p.Ser207Arg)
|
|
|
NM_004984.4(KIF5A):c.621C>T (p.Ser207=)
|
|
|
NM_004984.4(KIF5A):c.627C>G (p.Phe209Leu)
|
|
|
NM_004984.4(KIF5A):c.630C>T (p.Leu210=)
|
|
|
NM_004984.4(KIF5A):c.673A>T (p.Ser225Cys)
|
rs911601615
|
|
NM_004984.4(KIF5A):c.684G>A (p.Leu228=)
|
|
|
NM_004984.4(KIF5A):c.691G>T (p.Val231Leu)
|
rs2140161619
|
|
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro)
|
rs1594915468
|
|
NM_004984.4(KIF5A):c.6G>C (p.Ala2=)
|
|
|
NM_004984.4(KIF5A):c.705G>T (p.Gly235=)
|
|
|
NM_004984.4(KIF5A):c.714+11C>T
|
rs759607800
|
|
NM_004984.4(KIF5A):c.714+15G>A
|
|
|
NM_004984.4(KIF5A):c.714+6G>C
|
rs1882106517
|
|
NM_004984.4(KIF5A):c.714+7G>A
|
|
|
NM_004984.4(KIF5A):c.714+9T>C
|
rs878854750
|
|
NM_004984.4(KIF5A):c.715-11T>G
|
rs2140162529
|
|
NM_004984.4(KIF5A):c.719G>T (p.Ser240Ile)
|
rs2140162534
|
|
NM_004984.4(KIF5A):c.730G>C (p.Ala244Pro)
|
rs1594916621
|
|
NM_004984.4(KIF5A):c.730_731delinsAA (p.Ala244Lys)
|
rs2140162546
|
|
NM_004984.4(KIF5A):c.735G>A (p.Glu245=)
|
|
|
NM_004984.4(KIF5A):c.73C>G (p.Leu25Val)
|
|
|
NM_004984.4(KIF5A):c.741C>T (p.Ala247=)
|
|
|
NM_004984.4(KIF5A):c.742G>A (p.Val248Met)
|
|
|
NM_004984.4(KIF5A):c.742G>T (p.Val248Leu)
|
|
|
NM_004984.4(KIF5A):c.744G>C (p.Val248=)
|
|
|
NM_004984.4(KIF5A):c.745C>G (p.Leu249Val)
|
|
|
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)
|
rs387907285
|
|
NM_004984.4(KIF5A):c.754G>C (p.Ala252Pro)
|
|
|
NM_004984.4(KIF5A):c.762T>C (p.Asn254=)
|
|
|
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val)
|
rs2140162576
|
|
NM_004984.4(KIF5A):c.765CAA[1] (p.Asn256del)
|
rs1565698514
|
|
NM_004984.4(KIF5A):c.772T>C (p.Ser258Pro)
|
rs1882158696
|
|
NM_004984.4(KIF5A):c.775C>T (p.Leu259=)
|
|
|
NM_004984.4(KIF5A):c.782C>T (p.Ala261Val)
|
rs2140162600
|
|
NM_004984.4(KIF5A):c.788G>A (p.Gly263Asp)
|
rs2140162605
|
|
NM_004984.4(KIF5A):c.795G>A (p.Val265=)
|
rs2140162612
|
|
NM_004984.4(KIF5A):c.79G>A (p.Gly27Arg)
|
|
|
NM_004984.4(KIF5A):c.802G>T (p.Ala268Ser)
|
rs139015012
|
|
NM_004984.4(KIF5A):c.808G>T (p.Ala270Ser)
|
rs2140162633
|
|
NM_004984.4(KIF5A):c.809C>G (p.Ala270Gly)
|
|
|
NM_004984.4(KIF5A):c.813G>A (p.Glu271=)
|
rs772172027
|
|
NM_004984.4(KIF5A):c.819+15G>A
|
|
|
NM_004984.4(KIF5A):c.819+16G>T
|
|
|
NM_004984.4(KIF5A):c.819+7G>T
|
|
|
NM_004984.4(KIF5A):c.820-13C>T
|
|
|
NM_004984.4(KIF5A):c.820-14C>A
|
rs944672661
|
|
NM_004984.4(KIF5A):c.820-3C>T
|
|
|
NM_004984.4(KIF5A):c.820-3del
|
rs1349311406
|
|
NM_004984.4(KIF5A):c.820-5C>A
|
|
|
NM_004984.4(KIF5A):c.824G>A (p.Ser275Asn)
|
rs2140162832
|
|
NM_004984.4(KIF5A):c.825C>T (p.Ser275=)
|
|
|
NM_004984.4(KIF5A):c.826T>C (p.Tyr276His)
|
rs2140162837
|
|
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)
|
rs121434443
|
|
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)
|
rs121434442
|
|
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
|
rs387907288
|
|
NM_004984.4(KIF5A):c.839G>C (p.Arg280Pro)
|
|
|
NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr)
|
rs1224640834
|
|
NM_004984.4(KIF5A):c.86A>T (p.Lys29Met)
|
rs2140150198
|
|
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe)
|
rs761812789
|
|
NM_004984.4(KIF5A):c.877G>A (p.Gly293Arg)
|
|
|
NM_004984.4(KIF5A):c.882A>G (p.Gly294=)
|
rs2140162926
|
|
NM_004984.4(KIF5A):c.888C>T (p.Cys296=)
|
rs773373166
|
|
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp)
|
rs1416085161
|
|
NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln)
|
rs1404057685
|
|
NM_004984.4(KIF5A):c.890G>T (p.Arg297Leu)
|
|
|
NM_004984.4(KIF5A):c.892A>G (p.Thr298Ala)
|
|
|
NM_004984.4(KIF5A):c.893C>T (p.Thr298Met)
|
rs1303126235
|
|
NM_004984.4(KIF5A):c.899T>A (p.Met300Lys)
|
rs1290797018
|
|
NM_004984.4(KIF5A):c.906C>T (p.Ile302=)
|
|
|
NM_004984.4(KIF5A):c.922A>G (p.Ser308Gly)
|
|
|
NM_004984.4(KIF5A):c.92T>C (p.Ile31Thr)
|
|
|
NM_004984.4(KIF5A):c.933T>A (p.Asp311Glu)
|
|
|
NM_004984.4(KIF5A):c.934G>T (p.Ala312Ser)
|
|
|
NM_004984.4(KIF5A):c.935C>T (p.Ala312Val)
|
rs2140162971
|
|
NM_004984.4(KIF5A):c.936A>C (p.Ala312=)
|
rs1882172406
|
|
NM_004984.4(KIF5A):c.941C>A (p.Thr314Asn)
|
|
|
NM_004984.4(KIF5A):c.965A>G (p.Gln322Arg)
|
|
|
NM_004984.4(KIF5A):c.967C>A (p.Arg323=)
|
|
|
NM_004984.4(KIF5A):c.968+16C>T
|
rs1188551649
|
|
NM_004984.4(KIF5A):c.968+8G>T
|
|
|
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln)
|
rs2140163000
|
|
NM_004984.4(KIF5A):c.969-15C>T
|
|
|
NM_004984.4(KIF5A):c.969-17C>G
|
|
|
NM_004984.4(KIF5A):c.969-1G>C
|
rs1882179247
|
|
NM_004984.4(KIF5A):c.969-5C>T
|
|
|
NM_004984.4(KIF5A):c.969-9C>T
|
|
|
NM_004984.4(KIF5A):c.969-9_969-7del
|
|
|
NM_004984.4(KIF5A):c.969-9del
|
|
|
NM_004984.4(KIF5A):c.970G>A (p.Ala324Thr)
|
rs1882179319
|
|
NM_004984.4(KIF5A):c.977C>G (p.Thr326Ser)
|
|
|
NM_004984.4(KIF5A):c.97A>G (p.Ile33Val)
|
|
|
NM_004984.4(KIF5A):c.990T>C (p.Thr330=)
|
|
|
NM_004984.4(KIF5A):c.996A>C (p.Ser332=)
|
|
|
NM_004984.4(KIF5A):c.997G>A (p.Val333Ile)
|
|
|