NM_020442.6(VARS2):c.2467-77A>G
|
rs2257347
|
0.68148
|
NM_020442.6(VARS2):c.3033C>T (p.Asp1011=)
|
rs1043483
|
0.66272
|
NM_020442.6(VARS2):c.2673+184G>A
|
rs2532941
|
0.63471
|
NM_020442.6(VARS2):c.-28+82T>C
|
rs1264306
|
0.52561
|
NM_020442.6(VARS2):c.1633-106G>A
|
rs2517467
|
0.50641
|
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg)
|
rs2249464
|
0.50569
|
NM_020442.6(VARS2):c.168G>T (p.Ala56=)
|
rs1264301
|
0.28870
|
NM_020442.6(VARS2):c.671+229A>T
|
rs41268036
|
0.28809
|
NM_020442.6(VARS2):c.671+225G>A
|
rs41266876
|
0.28273
|
NM_020442.6(VARS2):c.753+70A>C
|
rs1264297
|
0.27899
|
NM_020442.6(VARS2):c.672-219A>G
|
rs1264298
|
0.27891
|
NM_020442.6(VARS2):c.1288C>T (p.Leu430=)
|
rs2249459
|
0.27889
|
NM_020442.6(VARS2):c.985+56A>G
|
rs9262288
|
0.27886
|
NM_020442.6(VARS2):c.2785+64C>G
|
rs2532939
|
0.27883
|
NM_020442.6(VARS2):c.2893G>A (p.Ala965Thr)
|
rs2252863
|
0.27881
|
NM_020442.6(VARS2):c.986-254C>G
|
rs9262293
|
0.27879
|
NM_020442.6(VARS2):c.2786-70G>A
|
rs2252856
|
0.27875
|
NM_020442.6(VARS2):c.201+42A>G
|
rs1264300
|
0.27874
|
NM_020442.6(VARS2):c.985+238G>A
|
rs9262290
|
0.27871
|
NM_020442.6(VARS2):c.1075-224C>T
|
rs7756286
|
0.27870
|
NM_020442.6(VARS2):c.1632+38A>G
|
rs2532943
|
0.27869
|
NM_020442.6(VARS2):c.-28+156C>T
|
rs1264305
|
0.27868
|
NM_020442.6(VARS2):c.21C>T (p.Ala7=)
|
rs1264302
|
0.27868
|
NM_020442.6(VARS2):c.985+103T>A
|
rs9262289
|
0.27868
|
NM_020442.6(VARS2):c.1075-191T>C
|
rs7738138
|
0.27866
|
NM_020442.6(VARS2):c.3090+46G>A
|
rs2532938
|
0.27866
|
NM_020442.6(VARS2):c.574-9C>T
|
rs1264299
|
0.27863
|
NM_020442.6(VARS2):c.2658C>T (p.Pro886=)
|
rs2532942
|
0.27861
|
NM_020442.6(VARS2):c.-27-74A>G
|
rs1264303
|
0.27857
|
NM_020442.6(VARS2):c.1353G>A (p.Leu451=)
|
rs2517468
|
0.27814
|
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln)
|
rs9394021
|
0.22711
|
NM_020442.6(VARS2):c.1272C>T (p.Ser424=)
|
rs2285319
|
0.22709
|
NM_020442.6(VARS2):c.2674-51del
|
rs35056976
|
0.22684
|
NM_020442.6(VARS2):c.1656T>C (p.Val552=)
|
rs2074511
|
0.18932
|
NM_020442.6(VARS2):c.3146G>A (p.Arg1049Gln)
|
rs4678
|
0.15318
|
NM_020442.6(VARS2):c.1074+37C>T
|
rs41273021
|
0.07963
|
NM_020442.6(VARS2):c.-27-172C>T
|
rs1264304
|
0.07620
|
NM_020442.6(VARS2):c.190G>A (p.Gly64Arg)
|
rs6926723
|
0.06682
|
NM_020442.6(VARS2):c.76C>T (p.His26Tyr)
|
rs6926224
|
0.06678
|
NM_020442.6(VARS2):c.1479+91G>A
|
rs7766094
|
0.05686
|
NM_020442.6(VARS2):c.1075-293G>A
|
rs111371873
|
0.04544
|
NM_020442.6(VARS2):c.2466+168G>C
|
rs535228401
|
0.03802
|
NM_020442.6(VARS2):c.2412C>T (p.Leu804=)
|
rs17189635
|
0.02324
|
NM_020442.6(VARS2):c.-27-156C>T
|
rs3218831
|
0.02126
|
NM_020442.6(VARS2):c.1074+235G>C
|
rs11757745
|
0.02076
|
NM_020442.6(VARS2):c.1075-70C>T
|
rs118124843
|
0.01605
|
NM_020442.6(VARS2):c.1514C>T (p.Ser505Phe)
|
rs61746524
|
0.01404
|
NM_020442.6(VARS2):c.2578C>T (p.Leu860=)
|
rs116118019
|
0.01372
|
NM_020442.6(VARS2):c.1633-74C>T
|
rs114889222
|
0.01024
|
NM_020442.6(VARS2):c.1480-9T>C
|
rs116172961
|
0.00932
|
NM_020442.6(VARS2):c.1670C>A (p.Ala557Asp)
|
rs55822421
|
0.00736
|
NM_020442.6(VARS2):c.1074+38G>A
|
rs146126712
|
0.00601
|
NM_020442.6(VARS2):c.671+247A>T
|
rs560535786
|
0.00575
|
NM_020442.6(VARS2):c.423G>A (p.Met141Ile)
|
rs141408930
|
0.00569
|
NM_020442.6(VARS2):c.671+174G>A
|
rs146114215
|
0.00527
|
NM_020442.6(VARS2):c.2500C>T (p.Arg834Cys)
|
rs142520878
|
0.00488
|
NM_020442.6(VARS2):c.2467-145T>C
|
rs192670335
|
0.00463
|
NM_020442.6(VARS2):c.2673+150C>T
|
rs144768058
|
0.00429
|
NM_020442.6(VARS2):c.607G>A (p.Gly203Arg)
|
rs73430135
|
0.00342
|
NM_020442.6(VARS2):c.876G>A (p.Val292=)
|
rs147636694
|
0.00332
|
NM_020442.6(VARS2):c.-27-81T>C
|
rs193150789
|
0.00269
|
NM_020442.6(VARS2):c.1065G>A (p.Ser355=)
|
rs151183326
|
0.00251
|
NM_020442.6(VARS2):c.1166-5C>A
|
rs192370302
|
0.00225
|
NM_020442.6(VARS2):c.969C>T (p.Pro323=)
|
rs148701242
|
0.00214
|
NM_020442.6(VARS2):c.2467-19C>T
|
rs183366836
|
0.00212
|
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys)
|
rs138855624
|
0.00129
|
NM_020442.6(VARS2):c.451T>C (p.Ser151Pro)
|
rs150863068
|
0.00103
|
NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp)
|
rs143473050
|
0.00086
|
NM_020442.6(VARS2):c.874-7C>T
|
rs148624317
|
0.00086
|
NM_020442.6(VARS2):c.672-16A>C
|
rs202118530
|
0.00050
|
NM_020442.6(VARS2):c.864G>A (p.Ser288=)
|
rs59234326
|
0.00043
|
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)
|
rs143408155
|
0.00041
|
NM_020442.6(VARS2):c.3091-10C>T
|
rs141974166
|
0.00041
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_020442.6(VARS2):c.1074+15G>A
|
rs200200291
|
0.00038
|
NM_020442.6(VARS2):c.2980A>G (p.Ile994Val)
|
rs201758263
|
0.00038
|
NM_020442.6(VARS2):c.23C>A (p.Ser8Tyr)
|
rs145694863
|
0.00034
|
NM_020442.6(VARS2):c.1074+9C>T
|
rs375719143
|
0.00030
|
NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu)
|
rs376070793
|
0.00028
|
NM_020442.6(VARS2):c.2786-6T>C
|
rs200168128
|
0.00028
|
NM_020442.6(VARS2):c.1338G>A (p.Leu446=)
|
rs17189628
|
0.00026
|
NM_020442.6(VARS2):c.1629G>A (p.Ala543=)
|
rs569393069
|
0.00026
|
NM_020442.6(VARS2):c.787C>T (p.Arg263Trp)
|
rs200002496
|
0.00026
|
NM_020442.6(VARS2):c.3091-16T>C
|
rs529118301
|
0.00024
|
NM_020442.6(VARS2):c.2704C>T (p.Arg902Cys)
|
rs148172787
|
0.00020
|
NM_020442.6(VARS2):c.1083C>T (p.His361=)
|
rs374035061
|
0.00017
|
NM_020442.6(VARS2):c.315C>T (p.Ser105=)
|
rs199858134
|
0.00015
|
NM_020442.6(VARS2):c.2495C>T (p.Ser832Leu)
|
rs138341222
|
0.00012
|
NM_020442.6(VARS2):c.1557-18C>T
|
rs184580937
|
0.00011
|
NM_020442.6(VARS2):c.2467-2A>G
|
rs200075594
|
0.00011
|
NM_020442.6(VARS2):c.2584G>A (p.Glu862Lys)
|
rs200019717
|
0.00011
|
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)
|
rs139515727
|
0.00011
|
NM_020442.6(VARS2):c.639C>T (p.Ala213=)
|
rs201160970
|
0.00011
|
NM_020442.6(VARS2):c.736T>C (p.Cys246Arg)
|
rs140184279
|
0.00011
|
NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln)
|
rs767441762
|
0.00010
|
NM_020442.6(VARS2):c.2826C>T (p.Phe942=)
|
rs769740013
|
0.00009
|
NM_020442.6(VARS2):c.283+3A>G
|
rs367960344
|
0.00009
|
NM_020442.6(VARS2):c.1166-6C>T
|
rs372991793
|
0.00007
|
NM_020442.6(VARS2):c.263C>T (p.Thr88Met)
|
rs768882295
|
0.00007
|
NM_020442.6(VARS2):c.3036C>G (p.Ser1012Arg)
|
rs758429375
|
0.00006
|
NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg)
|
rs201946203
|
0.00006
|
NM_020442.6(VARS2):c.814C>T (p.Arg272Trp)
|
rs201492601
|
0.00006
|
NM_020442.6(VARS2):c.1163C>T (p.Thr388Met)
|
rs140305500
|
0.00005
|
NM_020442.6(VARS2):c.1233C>T (p.Ser411=)
|
rs528281614
|
0.00005
|
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)
|
rs143821815
|
0.00005
|
NM_020442.6(VARS2):c.1496C>G (p.Ala499Gly)
|
rs751016666
|
0.00005
|
NM_020442.6(VARS2):c.3091-3C>T
|
rs76717439
|
0.00005
|
NM_020442.6(VARS2):c.873+7C>T
|
rs761249902
|
0.00005
|
NM_020442.6(VARS2):c.1084G>A (p.Gly362Arg)
|
rs756098228
|
0.00004
|
NM_020442.6(VARS2):c.1396A>G (p.Ser466Gly)
|
rs149444062
|
0.00004
|
NM_020442.6(VARS2):c.2501G>A (p.Arg834His)
|
rs747564856
|
0.00004
|
NM_020442.6(VARS2):c.3091-6G>A
|
rs753415520
|
0.00004
|
NM_020442.6(VARS2):c.482C>G (p.Ala161Gly)
|
rs369976906
|
0.00004
|
NM_020442.6(VARS2):c.1447C>T (p.Arg483Cys)
|
rs372098497
|
0.00003
|
NM_020442.6(VARS2):c.1484T>G (p.Val495Gly)
|
rs759325866
|
0.00003
|
NM_020442.6(VARS2):c.2831C>G (p.Ala944Gly)
|
rs747655762
|
0.00003
|
NM_020442.6(VARS2):c.1661G>A (p.Arg554Gln)
|
rs765270010
|
0.00002
|
NM_020442.6(VARS2):c.2479C>G (p.Pro827Ala)
|
rs750373581
|
0.00002
|
NM_020442.6(VARS2):c.2535C>T (p.Cys845=)
|
rs775824651
|
0.00002
|
NM_020442.6(VARS2):c.275A>G (p.Glu92Gly)
|
rs767695626
|
0.00002
|
NM_020442.6(VARS2):c.2785+13G>A
|
rs577901199
|
0.00002
|
NM_020442.6(VARS2):c.573+13T>C
|
rs376869444
|
0.00002
|
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)
|
rs587777585
|
0.00001
|
NM_020442.6(VARS2):c.1048G>A (p.Val350Ile)
|
rs773112651
|
0.00001
|
NM_020442.6(VARS2):c.1058A>C (p.Asp353Ala)
|
rs760144186
|
0.00001
|
NM_020442.6(VARS2):c.1131C>T (p.Ile377=)
|
rs1057522585
|
0.00001
|
NM_020442.6(VARS2):c.1201G>A (p.Asp401Asn)
|
rs1343852500
|
0.00001
|
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter)
|
rs778868393
|
0.00001
|
NM_020442.6(VARS2):c.1487A>G (p.Glu496Gly)
|
rs752647168
|
0.00001
|
NM_020442.6(VARS2):c.1556+1G>A
|
rs1370457169
|
0.00001
|
NM_020442.6(VARS2):c.1653G>A (p.Val551=)
|
rs760052413
|
0.00001
|
NM_020442.6(VARS2):c.1660C>T (p.Arg554Trp)
|
rs377324441
|
0.00001
|
NM_020442.6(VARS2):c.18C>T (p.Leu6=)
|
rs765761779
|
0.00001
|
NM_020442.6(VARS2):c.2467G>A (p.Glu823Lys)
|
rs1054979703
|
0.00001
|
NM_020442.6(VARS2):c.2498C>T (p.Pro833Leu)
|
rs748548544
|
0.00001
|
NM_020442.6(VARS2):c.251A>G (p.Tyr84Cys)
|
rs1451565187
|
0.00001
|
NM_020442.6(VARS2):c.2683C>T (p.Arg895Cys)
|
rs1258140939
|
0.00001
|
NM_020442.6(VARS2):c.2684G>A (p.Arg895His)
|
rs570231965
|
0.00001
|
NM_020442.6(VARS2):c.2749C>T (p.Arg917Ter)
|
rs773737253
|
0.00001
|
NM_020442.6(VARS2):c.295C>T (p.Pro99Ser)
|
rs769133275
|
0.00001
|
NM_020442.6(VARS2):c.3031G>C (p.Asp1011His)
|
rs139921739
|
0.00001
|
NM_020442.6(VARS2):c.495C>T (p.Ala165=)
|
rs1347356683
|
0.00001
|
NM_020442.6(VARS2):c.503G>A (p.Arg168His)
|
rs776585917
|
0.00001
|
NM_020442.6(VARS2):c.570A>G (p.Thr190=)
|
rs748342293
|
0.00001
|
NM_020442.6(VARS2):c.631C>T (p.Arg211Trp)
|
rs544609783
|
0.00001
|
NM_020442.6(VARS2):c.679G>A (p.Gly227Arg)
|
rs771388647
|
0.00001
|
NM_020442.6(VARS2):c.715T>C (p.Ser239Pro)
|
rs1442668714
|
0.00001
|
NM_020442.6(VARS2):c.753+19G>C
|
rs748007370
|
0.00001
|
NM_020442.6(VARS2):c.863C>T (p.Ser288Leu)
|
rs374148426
|
0.00001
|
NM_020442.6(VARS2):c.911G>A (p.Arg304Gln)
|
rs1312924156
|
0.00001
|
NM_020442.6(VARS2):c.912A>G (p.Arg304=)
|
rs773442834
|
0.00001
|
NM_020442.6(VARS2):c.938C>A (p.Ser313Tyr)
|
rs371998967
|
0.00001
|
NC_000006.11:g.(?_30890861)_(30892357_?)del
|
|
|
NC_000006.12:g.30914118_30914129del
|
rs200449009
|
|
NM_020442.6(VARS2):c.-27-1G>T
|
rs1212840317
|
|
NM_020442.6(VARS2):c.-27-21C>G
|
|
|
NM_020442.6(VARS2):c.-27-21CT[4]
|
rs745344704
|
|
NM_020442.6(VARS2):c.-27-21CT[7]
|
|
|
NM_020442.6(VARS2):c.-27-22G>A
|
|
|
NM_020442.6(VARS2):c.-27-9C>G
|
|
|
NM_020442.6(VARS2):c.-28+87C>T
|
rs1434750646
|
|
NM_020442.6(VARS2):c.-28+89C>T
|
rs948200308
|
|
NM_020442.6(VARS2):c.1022C>T (p.Thr341Met)
|
|
|
NM_020442.6(VARS2):c.1023G>A (p.Thr341=)
|
|
|
NM_020442.6(VARS2):c.105T>C (p.His35=)
|
|
|
NM_020442.6(VARS2):c.1066C>A (p.Arg356=)
|
rs753139152
|
|
NM_020442.6(VARS2):c.1073C>T (p.Thr358Ile)
|
rs1554267386
|
|
NM_020442.6(VARS2):c.1074+14C>T
|
|
|
NM_020442.6(VARS2):c.1074+32C>T
|
rs115947485
|
|
NM_020442.6(VARS2):c.1087C>T (p.Arg363Ter)
|
|
|
NM_020442.6(VARS2):c.1096C>T (p.Arg366Cys)
|
|
|
NM_020442.6(VARS2):c.109T>C (p.Ser37Pro)
|
|
|
NM_020442.6(VARS2):c.1120C>T (p.Leu374Phe)
|
rs2150558437
|
|
NM_020442.6(VARS2):c.1149G>A (p.Gln383=)
|
|
|
NM_020442.6(VARS2):c.1164G>A (p.Thr388=)
|
|
|
NM_020442.6(VARS2):c.1165+3G>A
|
|
|
NM_020442.6(VARS2):c.1166-20C>A
|
|
|
NM_020442.6(VARS2):c.1166-83_1166-67dup
|
rs9281078
|
|
NM_020442.6(VARS2):c.1167G>T (p.Gly389=)
|
rs370243370
|
|
NM_020442.6(VARS2):c.1183C>G (p.Pro395Ala)
|
rs1378746858
|
|
NM_020442.6(VARS2):c.124A>C (p.Arg42=)
|
|
|
NM_020442.6(VARS2):c.1257T>C (p.Asp419=)
|
|
|
NM_020442.6(VARS2):c.1263C>T (p.Thr421=)
|
|
|
NM_020442.6(VARS2):c.1278C>T (p.Cys426=)
|
|
|
NM_020442.6(VARS2):c.1293+17T>C
|
|
|
NM_020442.6(VARS2):c.1294-17T>C
|
|
|
NM_020442.6(VARS2):c.12_13delinsTT (p.Leu4_Pro5delinsPheSer)
|
rs2150547723
|
|
NM_020442.6(VARS2):c.1316G>A (p.Arg439Gln)
|
|
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
|
|
NM_020442.6(VARS2):c.1372C>T (p.His458Tyr)
|
|
|
NM_020442.6(VARS2):c.1373A>G (p.His458Arg)
|
|
|
NM_020442.6(VARS2):c.1376C>T (p.Pro459Leu)
|
|
|
NM_020442.6(VARS2):c.1381G>T (p.Val461Leu)
|
|
|
NM_020442.6(VARS2):c.1397+8C>A
|
|
|
NM_020442.6(VARS2):c.1398-107G>A
|
rs9357103
|
|
NM_020442.6(VARS2):c.1436A>G (p.Gln479Arg)
|
|
|
NM_020442.6(VARS2):c.1466C>A (p.Ala489Asp)
|
|
|
NM_020442.6(VARS2):c.1480-2A>G
|
|
|
NM_020442.6(VARS2):c.1490C>T (p.Ser497Leu)
|
|
|
NM_020442.6(VARS2):c.1512C>T (p.Pro504=)
|
|
|
NM_020442.6(VARS2):c.1556+15A>G
|
|
|
NM_020442.6(VARS2):c.1556G>C (p.Gly519Ala)
|
rs1220664580
|
|
NM_020442.6(VARS2):c.1563G>A (p.Trp521Ter)
|
|
|
NM_020442.6(VARS2):c.1615G>C (p.Val539Leu)
|
|
|
NM_020442.6(VARS2):c.1628C>T (p.Ala543Val)
|
|
|
NM_020442.6(VARS2):c.1632+18C>A
|
|
|
NM_020442.6(VARS2):c.1633-16C>T
|
|
|
NM_020442.6(VARS2):c.1646G>A (p.Cys549Tyr)
|
|
|
NM_020442.6(VARS2):c.1682A>C (p.Glu561Ala)
|
|
|
NM_020442.6(VARS2):c.1684G>A (p.Val562Ile)
|
|
|
NM_020442.6(VARS2):c.1695A>G (p.Glu565=)
|
|
|
NM_020442.6(VARS2):c.1700C>T (p.Thr567Ile)
|
|
|
NM_020442.6(VARS2):c.1725C>T (p.Thr575=)
|
|
|
NM_020442.6(VARS2):c.180T>G (p.Ala60=)
|
|
|
NM_020442.6(VARS2):c.182A>C (p.Glu61Ala)
|
|
|
NM_020442.6(VARS2):c.202-19T>C
|
|
|
NM_020442.6(VARS2):c.202-4T>C
|
|
|
NM_020442.6(VARS2):c.2395A>G (p.Thr799Ala)
|
|
|
NM_020442.6(VARS2):c.2399G>A (p.Arg800Gln)
|
|
|
NM_020442.6(VARS2):c.2413G>A (p.Val805Ile)
|
|
|
NM_020442.6(VARS2):c.2429A>G (p.His810Arg)
|
rs1282826801
|
|
NM_020442.6(VARS2):c.2448C>A (p.Asn816Lys)
|
|
|
NM_020442.6(VARS2):c.2457C>T (p.Asp819=)
|
|
|
NM_020442.6(VARS2):c.2466+14G>A
|
|
|
NM_020442.6(VARS2):c.2466+168del
|
rs111876652
|
|
NM_020442.6(VARS2):c.2481C>T (p.Pro827=)
|
|
|
NM_020442.6(VARS2):c.251_270del (p.Tyr84fs)
|
rs2150548621
|
|
NM_020442.6(VARS2):c.2526G>A (p.Leu842=)
|
|
|
NM_020442.6(VARS2):c.2536G>A (p.Ala846Thr)
|
|
|
NM_020442.6(VARS2):c.2544C>T (p.Leu848=)
|
|
|
NM_020442.6(VARS2):c.2545G>A (p.Gly849Ser)
|
rs921016854
|
|
NM_020442.6(VARS2):c.2553C>T (p.Arg851=)
|
|
|
NM_020442.6(VARS2):c.2558T>C (p.Leu853Pro)
|
|
|
NM_020442.6(VARS2):c.2604G>A (p.Leu868=)
|
|
|
NM_020442.6(VARS2):c.2608C>T (p.Pro870Ser)
|
|
|
NM_020442.6(VARS2):c.2643G>A (p.Ser881=)
|
|
|
NM_020442.6(VARS2):c.2661C>T (p.Ser887=)
|
|
|
NM_020442.6(VARS2):c.2662G>T (p.Ala888Ser)
|
|
|
NM_020442.6(VARS2):c.2664C>T (p.Ala888=)
|
|
|
NM_020442.6(VARS2):c.2673+255G>C
|
rs2532940
|
|
NM_020442.6(VARS2):c.2673+40G>C
|
rs2252760
|
|
NM_020442.6(VARS2):c.2674-10C>G
|
|
|
NM_020442.6(VARS2):c.2674-9C>T
|
|
|
NM_020442.6(VARS2):c.2677C>T (p.His893Tyr)
|
|
|
NM_020442.6(VARS2):c.2698G>C (p.Glu900Gln)
|
|
|
NM_020442.6(VARS2):c.2713C>T (p.Arg905Trp)
|
|
|
NM_020442.6(VARS2):c.271G>A (p.Gly91Ser)
|
|
|
NM_020442.6(VARS2):c.2721A>T (p.Gln907His)
|
rs748897597
|
|
NM_020442.6(VARS2):c.2728G>A (p.Val910Met)
|
|
|
NM_020442.6(VARS2):c.2736G>A (p.Val912=)
|
|
|
NM_020442.6(VARS2):c.2752G>C (p.Ala918Pro)
|
rs2150570430
|
|
NM_020442.6(VARS2):c.2757G>A (p.Thr919=)
|
|
|
NM_020442.6(VARS2):c.2783G>A (p.Arg928Gln)
|
|
|
NM_020442.6(VARS2):c.2786-4C>G
|
|
|
NM_020442.6(VARS2):c.2790G>A (p.Leu930=)
|
rs1049735896
|
|
NM_020442.6(VARS2):c.2819G>T (p.Gly940Val)
|
|
|
NM_020442.6(VARS2):c.284-14C>G
|
|
|
NM_020442.6(VARS2):c.284-14C>T
|
|
|
NM_020442.6(VARS2):c.2886C>T (p.Pro962=)
|
|
|
NM_020442.6(VARS2):c.2889A>G (p.Pro963=)
|
|
|
NM_020442.6(VARS2):c.2902C>A (p.Pro968Thr)
|
rs2150571150
|
|
NM_020442.6(VARS2):c.2907C>T (p.Ser969=)
|
|
|
NM_020442.6(VARS2):c.2908G>A (p.Gly970Ser)
|
|
|
NM_020442.6(VARS2):c.2913G>A (p.Trp971Ter)
|
rs1554269997
|
|
NM_020442.6(VARS2):c.2924C>T (p.Pro975Leu)
|
|
|
NM_020442.6(VARS2):c.2936C>T (p.Thr979Met)
|
|
|
NM_020442.6(VARS2):c.2961+10G>A
|
|
|
NM_020442.6(VARS2):c.2961+69del
|
rs34092836
|
|
NM_020442.6(VARS2):c.2962-3C>A
|
|
|
NM_020442.6(VARS2):c.2963G>T (p.Gly988Val)
|
rs770182765
|
|
NM_020442.6(VARS2):c.3000C>T (p.Ala1000=)
|
|
|
NM_020442.6(VARS2):c.3004C>T (p.Arg1002Ter)
|
rs908881657
|
|
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg)
|
rs773482888
|
|
NM_020442.6(VARS2):c.3036C>T (p.Ser1012=)
|
|
|
NM_020442.6(VARS2):c.3041C>G (p.Thr1014Arg)
|
|
|
NM_020442.6(VARS2):c.3044C>T (p.Ala1015Val)
|
|
|
NM_020442.6(VARS2):c.3053del (p.Pro1018fs)
|
rs2150571775
|
|
NM_020442.6(VARS2):c.3069A>G (p.Ala1023=)
|
|
|
NM_020442.6(VARS2):c.3090+2T>A
|
|
|
NM_020442.6(VARS2):c.3103C>T (p.Gln1035Ter)
|
|
|
NM_020442.6(VARS2):c.3148C>A (p.Gln1050Lys)
|
|
|
NM_020442.6(VARS2):c.3151C>T (p.Leu1051=)
|
|
|
NM_020442.6(VARS2):c.3182C>G (p.Pro1061Arg)
|
|
|
NM_020442.6(VARS2):c.3183G>A (p.Pro1061=)
|
|
|
NM_020442.6(VARS2):c.355C>A (p.Arg119=)
|
|
|
NM_020442.6(VARS2):c.379T>C (p.Tyr127His)
|
|
|
NM_020442.6(VARS2):c.383A>G (p.Gln128Arg)
|
|
|
NM_020442.6(VARS2):c.388C>T (p.Arg130Trp)
|
|
|
NM_020442.6(VARS2):c.389G>A (p.Arg130Gln)
|
|
|
NM_020442.6(VARS2):c.408G>A (p.Gly136=)
|
|
|
NM_020442.6(VARS2):c.477G>A (p.Thr159=)
|
|
|
NM_020442.6(VARS2):c.502C>T (p.Arg168Cys)
|
|
|
NM_020442.6(VARS2):c.507-20_507-13del
|
|
|
NM_020442.6(VARS2):c.512G>A (p.Arg171Gln)
|
|
|
NM_020442.6(VARS2):c.513_516dup (p.Arg173fs)
|
rs1582173192
|
|
NM_020442.6(VARS2):c.547T>G (p.Ser183Ala)
|
|
|
NM_020442.6(VARS2):c.571C>T (p.Gln191Ter)
|
|
|
NM_020442.6(VARS2):c.573+7_573+13dup
|
|
|
NM_020442.6(VARS2):c.574-27G>T
|
rs139293635
|
|
NM_020442.6(VARS2):c.574-42_574-35del
|
rs57637932
|
|
NM_020442.6(VARS2):c.574-7A>C
|
rs766933357
|
|
NM_020442.6(VARS2):c.574-7A>T
|
|
|
NM_020442.6(VARS2):c.582G>A (p.Val194=)
|
|
|
NM_020442.6(VARS2):c.592C>T (p.Leu198=)
|
|
|
NM_020442.6(VARS2):c.597G>T (p.Trp199Cys)
|
|
|
NM_020442.6(VARS2):c.605G>C (p.Arg202Pro)
|
rs1242761387
|
|
NM_020442.6(VARS2):c.608G>T (p.Gly203Val)
|
|
|
NM_020442.6(VARS2):c.608_609insCCC (p.Gly203_Val204insPro)
|
rs1085307515
|
|
NM_020442.6(VARS2):c.614G>A (p.Arg205Lys)
|
|
|
NM_020442.6(VARS2):c.614G>C (p.Arg205Thr)
|
rs147382026
|
|
NM_020442.6(VARS2):c.636G>A (p.Glu212=)
|
|
|
NM_020442.6(VARS2):c.63C>T (p.Gly21=)
|
|
|
NM_020442.6(VARS2):c.641T>G (p.Phe214Cys)
|
|
|
NM_020442.6(VARS2):c.671+18G>T
|
|
|
NM_020442.6(VARS2):c.671+1G>A
|
|
|
NM_020442.6(VARS2):c.671+1G>C
|
rs1017764354
|
|
NM_020442.6(VARS2):c.671+205GT[11]
|
rs28383826
|
|
NM_020442.6(VARS2):c.671+205GT[13]
|
rs28383826
|
|
NM_020442.6(VARS2):c.671+205GT[14]
|
rs28383826
|
|
NM_020442.6(VARS2):c.671+205GT[15]
|
rs28383826
|
|
NM_020442.6(VARS2):c.671+219_671+220insGGTG
|
rs371645693
|
|
NM_020442.6(VARS2):c.671+227G>A
|
rs9262287
|
|
NM_020442.6(VARS2):c.671+231_671+232dup
|
rs9281077
|
|
NM_020442.6(VARS2):c.671+232TA[10]
|
rs145049694
|
|
NM_020442.6(VARS2):c.671+232TA[11]
|
rs145049694
|
|
NM_020442.6(VARS2):c.671+232TA[12]
|
rs145049694
|
|
NM_020442.6(VARS2):c.671C>T (p.Ala224Val)
|
|
|
NM_020442.6(VARS2):c.685A>T (p.Ile229Phe)
|
|
|
NM_020442.6(VARS2):c.699G>A (p.Leu233=)
|
|
|
NM_020442.6(VARS2):c.69C>G (p.Pro23=)
|
rs768525015
|
|
NM_020442.6(VARS2):c.733G>A (p.Glu245Lys)
|
|
|
NM_020442.6(VARS2):c.753+2T>A
|
|
|
NM_020442.6(VARS2):c.754-18_754-10del
|
|
|
NM_020442.6(VARS2):c.755G>A (p.Gly252Asp)
|
|
|
NM_020442.6(VARS2):c.766G>T (p.Ala256Ser)
|
|
|
NM_020442.6(VARS2):c.789G>T (p.Arg263=)
|
rs2150553294
|
|
NM_020442.6(VARS2):c.801G>A (p.Ala267=)
|
|
|
NM_020442.6(VARS2):c.81C>T (p.Ser27=)
|
|
|
NM_020442.6(VARS2):c.849A>G (p.Leu283=)
|
|
|
NM_020442.6(VARS2):c.855A>G (p.Ser285=)
|
|
|
NM_020442.6(VARS2):c.869T>C (p.Ile290Thr)
|
|
|
NM_020442.6(VARS2):c.873+8G>A
|
|
|
NM_020442.6(VARS2):c.874-12C>T
|
|
|
NM_020442.6(VARS2):c.883C>T (p.Arg295Trp)
|
|
|
NM_020442.6(VARS2):c.884G>A (p.Arg295Gln)
|
|
|
NM_020442.6(VARS2):c.8A>G (p.His3Arg)
|
|
|
NM_020442.6(VARS2):c.906G>T (p.Gln302His)
|
|
|
NM_020442.6(VARS2):c.934G>A (p.Val312Met)
|
|
|
NM_020442.6(VARS2):c.955T>C (p.Ser319Pro)
|
|
|
NM_020442.6(VARS2):c.961G>C (p.Ala321Pro)
|
|
|
NM_020442.6(VARS2):c.985+17G>T
|
|
|
NM_020442.6(VARS2):c.985+257TTTG[4]
|
rs147192830
|
|
NM_020442.6(VARS2):c.986-10T>C
|
|
|
NM_020442.6(VARS2):c.986-14A>C
|
|
|
NM_020442.6(VARS2):c.989C>G (p.Ala330Gly)
|
|
|