NM_052844.4(DYNC2I2):c.178T>G (p.Trp60Gly)
|
rs4837292
|
0.99672
|
NM_052844.4(DYNC2I2):c.309T>C (p.Tyr103=)
|
rs2298045
|
0.82136
|
NM_052844.4(DYNC2I2):c.873C>T (p.Thr291=)
|
rs4837291
|
0.72271
|
NM_052844.4(DYNC2I2):c.627G>A (p.Gln209=)
|
rs10760570
|
0.70085
|
NM_052844.4(DYNC2I2):c.703+20C>T
|
rs78387565
|
0.03075
|
NM_052844.4(DYNC2I2):c.187-3C>A
|
rs12380424
|
0.01873
|
NM_052844.4(DYNC2I2):c.630G>A (p.Pro210=)
|
rs61744155
|
0.01761
|
NM_052844.4(DYNC2I2):c.545+12C>T
|
rs76817280
|
0.01758
|
NM_052844.4(DYNC2I2):c.1373-5T>G
|
rs16930544
|
0.00891
|
NM_052844.4(DYNC2I2):c.888A>G (p.Leu296=)
|
rs140034879
|
0.00761
|
NM_052844.4(DYNC2I2):c.957G>A (p.Leu319=)
|
rs75450756
|
0.00524
|
NM_052844.4(DYNC2I2):c.616C>T (p.Arg206Cys)
|
rs148543026
|
0.00371
|
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val)
|
rs201715229
|
0.00258
|
NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)
|
rs17849504
|
0.00244
|
NM_052844.4(DYNC2I2):c.107G>T (p.Gly36Val)
|
rs375929394
|
0.00165
|
NM_052844.4(DYNC2I2):c.1008C>T (p.Gly336=)
|
rs146077746
|
0.00117
|
NM_052844.4(DYNC2I2):c.1116G>A (p.Thr372=)
|
rs138690108
|
0.00088
|
NM_052844.4(DYNC2I2):c.569C>T (p.Thr190Met)
|
rs142859913
|
0.00086
|
NM_052844.4(DYNC2I2):c.1499C>T (p.Ala500Val)
|
rs142210358
|
0.00051
|
NM_052844.4(DYNC2I2):c.19C>T (p.Pro7Ser)
|
rs762357801
|
0.00051
|
NM_052844.4(DYNC2I2):c.420C>T (p.Thr140=)
|
rs541654387
|
0.00036
|
NM_052844.4(DYNC2I2):c.1350T>A (p.Val450=)
|
rs200052239
|
0.00033
|
NM_052844.4(DYNC2I2):c.1117C>T (p.Arg373Trp)
|
rs146903531
|
0.00031
|
NM_052844.4(DYNC2I2):c.1425G>C (p.Leu475Phe)
|
rs200702768
|
0.00028
|
NM_052844.4(DYNC2I2):c.814-16C>T
|
rs370599383
|
0.00024
|
NM_052844.4(DYNC2I2):c.1363T>C (p.Ser455Pro)
|
rs146562225
|
0.00022
|
NM_052844.4(DYNC2I2):c.187-10C>T
|
rs548224589
|
0.00017
|
NM_052844.4(DYNC2I2):c.991G>A (p.Gly331Arg)
|
rs765921383
|
0.00016
|
NM_052844.4(DYNC2I2):c.14C>G (p.Ala5Gly)
|
rs544655044
|
0.00015
|
NM_052844.4(DYNC2I2):c.1605G>A (p.Ala535=)
|
rs772894632
|
0.00015
|
NM_052844.4(DYNC2I2):c.741G>A (p.Leu247=)
|
rs370242616
|
0.00014
|
NM_052844.4(DYNC2I2):c.1372+14G>A
|
rs376782086
|
0.00013
|
NM_052844.4(DYNC2I2):c.289G>A (p.Val97Met)
|
rs748058396
|
0.00013
|
NM_052844.4(DYNC2I2):c.961C>T (p.Arg321Trp)
|
rs369567140
|
0.00013
|
NM_052844.4(DYNC2I2):c.988C>T (p.Arg330Cys)
|
rs200271161
|
0.00013
|
NM_052844.4(DYNC2I2):c.1310A>G (p.Tyr437Cys)
|
rs186236478
|
0.00012
|
NM_052844.4(DYNC2I2):c.390C>T (p.His130=)
|
rs760042500
|
0.00012
|
NM_052844.4(DYNC2I2):c.276C>T (p.Pro92=)
|
rs368169728
|
0.00011
|
NM_052844.4(DYNC2I2):c.392C>T (p.Ala131Val)
|
rs766392626
|
0.00010
|
NM_052844.4(DYNC2I2):c.228C>T (p.Ser76=)
|
rs143075961
|
0.00009
|
NM_052844.4(DYNC2I2):c.477G>A (p.Ala159=)
|
rs186228177
|
0.00009
|
NM_052844.4(DYNC2I2):c.1373-20G>A
|
rs201988969
|
0.00008
|
NM_052844.4(DYNC2I2):c.856G>A (p.Val286Met)
|
rs139569061
|
0.00008
|
NM_052844.4(DYNC2I2):c.981+4C>T
|
rs375985561
|
0.00007
|
NM_052844.4(DYNC2I2):c.1167C>T (p.Ser389=)
|
rs374599444
|
0.00006
|
NM_052844.4(DYNC2I2):c.1565G>A (p.Arg522Gln)
|
rs373418441
|
0.00006
|
NM_052844.4(DYNC2I2):c.338G>A (p.Arg113Gln)
|
rs141826084
|
0.00006
|
NM_052844.4(DYNC2I2):c.436-11C>T
|
rs750826296
|
0.00006
|
NM_052844.4(DYNC2I2):c.554A>G (p.His185Arg)
|
rs544202763
|
0.00006
|
NM_052844.4(DYNC2I2):c.583G>A (p.Val195Met)
|
rs370632485
|
0.00006
|
NM_052844.4(DYNC2I2):c.393G>A (p.Ala131=)
|
rs760786107
|
0.00005
|
NM_052844.4(DYNC2I2):c.9C>T (p.Thr3=)
|
rs564750548
|
0.00005
|
NM_052844.4(DYNC2I2):c.111G>T (p.Pro37=)
|
rs779081076
|
0.00004
|
NM_052844.4(DYNC2I2):c.1246C>T (p.His416Tyr)
|
rs371747861
|
0.00004
|
NM_052844.4(DYNC2I2):c.1290G>A (p.Ser430=)
|
rs373865808
|
0.00004
|
NM_052844.4(DYNC2I2):c.1339C>T (p.Arg447Trp)
|
rs587777093
|
0.00004
|
NM_052844.4(DYNC2I2):c.299C>T (p.Pro100Leu)
|
rs202215428
|
0.00004
|
NM_052844.4(DYNC2I2):c.637G>A (p.Val213Met)
|
rs369755261
|
0.00004
|
NM_052844.4(DYNC2I2):c.738C>T (p.Asp246=)
|
rs200687172
|
0.00004
|
NM_052844.4(DYNC2I2):c.746G>A (p.Arg249His)
|
rs774756722
|
0.00004
|
NM_052844.4(DYNC2I2):c.813+18C>T
|
rs374334685
|
0.00004
|
NM_052844.4(DYNC2I2):c.899G>T (p.Gly300Val)
|
rs1200480566
|
0.00004
|
NM_052844.4(DYNC2I2):c.1131C>T (p.Ser377=)
|
rs149225851
|
0.00003
|
NM_052844.4(DYNC2I2):c.1132G>A (p.Val378Met)
|
rs367663253
|
0.00003
|
NM_052844.4(DYNC2I2):c.1326C>T (p.Arg442=)
|
rs201202295
|
0.00003
|
NM_052844.4(DYNC2I2):c.1373-19dup
|
rs757444230
|
0.00003
|
NM_052844.4(DYNC2I2):c.1373-6T>C
|
rs761480637
|
0.00003
|
NM_052844.4(DYNC2I2):c.1504G>A (p.Asp502Asn)
|
rs776327242
|
0.00003
|
NM_052844.4(DYNC2I2):c.1550C>T (p.Thr517Met)
|
rs770066601
|
0.00003
|
NM_052844.4(DYNC2I2):c.1564C>T (p.Arg522Trp)
|
rs368864898
|
0.00003
|
NM_052844.4(DYNC2I2):c.173T>G (p.Ile58Ser)
|
rs763670176
|
0.00003
|
NM_052844.4(DYNC2I2):c.769C>T (p.Arg257Cys)
|
rs769827993
|
0.00003
|
NM_052844.4(DYNC2I2):c.90G>A (p.Pro30=)
|
rs919478715
|
0.00003
|
NM_052844.4(DYNC2I2):c.990C>T (p.Arg330=)
|
rs753727336
|
0.00003
|
NM_052844.4(DYNC2I2):c.999C>T (p.Thr333=)
|
rs764088224
|
0.00003
|
NM_052844.4(DYNC2I2):c.1174G>A (p.Gly392Ser)
|
rs140484655
|
0.00002
|
NM_052844.4(DYNC2I2):c.1215-9C>T
|
rs1038091645
|
0.00002
|
NM_052844.4(DYNC2I2):c.1289C>T (p.Ser430Leu)
|
rs746996134
|
0.00002
|
NM_052844.4(DYNC2I2):c.1377C>T (p.Asp459=)
|
rs1005115532
|
0.00002
|
NM_052844.4(DYNC2I2):c.313A>G (p.Ile105Val)
|
rs1192627410
|
0.00002
|
NM_052844.4(DYNC2I2):c.435+6G>C
|
rs756949101
|
0.00002
|
NM_052844.4(DYNC2I2):c.472C>T (p.Gln158Ter)
|
rs587777097
|
0.00002
|
NM_052844.4(DYNC2I2):c.605G>A (p.Arg202Gln)
|
rs777142657
|
0.00002
|
NM_052844.4(DYNC2I2):c.639G>C (p.Val213=)
|
rs992323389
|
0.00002
|
NM_052844.4(DYNC2I2):c.677A>G (p.His226Arg)
|
rs139362186
|
0.00002
|
NM_052844.4(DYNC2I2):c.745C>T (p.Arg249Cys)
|
rs146276335
|
0.00002
|
NM_052844.4(DYNC2I2):c.982-20C>A
|
rs377054600
|
0.00002
|
NM_052844.4(DYNC2I2):c.1000G>A (p.Glu334Lys)
|
rs772983607
|
0.00001
|
NM_052844.4(DYNC2I2):c.1006G>A (p.Gly336Ser)
|
rs771610840
|
0.00001
|
NM_052844.4(DYNC2I2):c.1013C>T (p.Thr338Met)
|
rs1453406506
|
0.00001
|
NM_052844.4(DYNC2I2):c.1014G>A (p.Thr338=)
|
rs775718174
|
0.00001
|
NM_052844.4(DYNC2I2):c.1038C>T (p.Asp346=)
|
rs1203198115
|
0.00001
|
NM_052844.4(DYNC2I2):c.1146C>T (p.Ala382=)
|
rs762641265
|
0.00001
|
NM_052844.4(DYNC2I2):c.1154A>G (p.Gln385Arg)
|
rs766809441
|
0.00001
|
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)
|
rs587777096
|
0.00001
|
NM_052844.4(DYNC2I2):c.1196G>A (p.Ser399Asn)
|
rs777148395
|
0.00001
|
NM_052844.4(DYNC2I2):c.1202C>T (p.Ser401Phe)
|
rs763634588
|
0.00001
|
NM_052844.4(DYNC2I2):c.1219C>G (p.Leu407Val)
|
rs1269390021
|
0.00001
|
NM_052844.4(DYNC2I2):c.1332C>T (p.Ser444=)
|
rs376351607
|
0.00001
|
NM_052844.4(DYNC2I2):c.1424T>C (p.Leu475Ser)
|
rs748451019
|
0.00001
|
NM_052844.4(DYNC2I2):c.1431G>A (p.Lys477=)
|
rs769045630
|
0.00001
|
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter)
|
rs751323441
|
0.00001
|
NM_052844.4(DYNC2I2):c.1481A>G (p.Gln494Arg)
|
rs776473267
|
0.00001
|
NM_052844.4(DYNC2I2):c.1500G>A (p.Ala500=)
|
rs760332947
|
0.00001
|
NM_052844.4(DYNC2I2):c.1506T>C (p.Asp502=)
|
rs1054532891
|
0.00001
|
NM_052844.4(DYNC2I2):c.1562C>T (p.Pro521Leu)
|
rs1860237724
|
0.00001
|
NM_052844.4(DYNC2I2):c.1569A>G (p.Glu523=)
|
rs777478835
|
0.00001
|
NM_052844.4(DYNC2I2):c.1600G>A (p.Val534Met)
|
rs1172178384
|
0.00001
|
NM_052844.4(DYNC2I2):c.266C>T (p.Thr89Met)
|
rs763370150
|
0.00001
|
NM_052844.4(DYNC2I2):c.325G>A (p.Ala109Thr)
|
rs773435636
|
0.00001
|
NM_052844.4(DYNC2I2):c.405C>T (p.Phe135=)
|
rs772333040
|
0.00001
|
NM_052844.4(DYNC2I2):c.40G>A (p.Gly14Arg)
|
rs778409061
|
0.00001
|
NM_052844.4(DYNC2I2):c.498C>T (p.Ser166=)
|
rs1464019566
|
0.00001
|
NM_052844.4(DYNC2I2):c.540C>T (p.Tyr180=)
|
rs542055273
|
0.00001
|
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)
|
rs555811074
|
0.00001
|
NM_052844.4(DYNC2I2):c.59C>T (p.Ala20Val)
|
rs1377064833
|
0.00001
|
NM_052844.4(DYNC2I2):c.60G>A (p.Ala20=)
|
rs1308508874
|
0.00001
|
NM_052844.4(DYNC2I2):c.633G>A (p.Ser211=)
|
rs376954350
|
0.00001
|
NM_052844.4(DYNC2I2):c.693C>T (p.Ser231=)
|
rs1369315948
|
0.00001
|
NM_052844.4(DYNC2I2):c.699C>T (p.Val233=)
|
rs1354880824
|
0.00001
|
NM_052844.4(DYNC2I2):c.700G>A (p.Ala234Thr)
|
rs762438684
|
0.00001
|
NM_052844.4(DYNC2I2):c.842G>A (p.Ser281Asn)
|
rs746568024
|
0.00001
|
NM_052844.4(DYNC2I2):c.876C>T (p.Asp292=)
|
rs558962462
|
0.00001
|
NM_052844.4(DYNC2I2):c.886C>G (p.Leu296Val)
|
rs754164153
|
0.00001
|
NM_052844.4(DYNC2I2):c.8C>T (p.Thr3Ile)
|
rs759289615
|
0.00001
|
NM_052844.4(DYNC2I2):c.981+15G>A
|
rs757554076
|
0.00001
|
NC_000009.11:g.(?_131379899)_(131403238_?)dup
|
|
|
NC_000009.11:g.(?_131386587)_(131399326_?)dup
|
|
|
NC_000009.11:g.(?_131402950)_(131403238_?)del
|
|
|
NC_000009.11:g.(?_131418800)_(131419005_?)dup
|
|
|
NC_000009.12:g.(?_128632127)_(128640939_?)del
|
|
|
NM_052844.4(DYNC2I2):c.1003G>T (p.Val335Leu)
|
|
|
NM_052844.4(DYNC2I2):c.1024T>C (p.Phe342Leu)
|
|
|
NM_052844.4(DYNC2I2):c.1045C>T (p.Leu349=)
|
rs747050698
|
|
NM_052844.4(DYNC2I2):c.1062G>A (p.Thr354=)
|
|
|
NM_052844.4(DYNC2I2):c.1063G>C (p.Glu355Gln)
|
|
|
NM_052844.4(DYNC2I2):c.1069G>A (p.Gly357Ser)
|
rs769501856
|
|
NM_052844.4(DYNC2I2):c.106_107delinsTT (p.Gly36Leu)
|
rs2132190369
|
|
NM_052844.4(DYNC2I2):c.1072T>G (p.Phe358Val)
|
rs2132139382
|
|
NM_052844.4(DYNC2I2):c.1076C>T (p.Pro359Leu)
|
|
|
NM_052844.4(DYNC2I2):c.1077G>A (p.Pro359=)
|
|
|
NM_052844.4(DYNC2I2):c.1089C>T (p.Ser363=)
|
|
|
NM_052844.4(DYNC2I2):c.1097C>G (p.Ala366Gly)
|
|
|
NM_052844.4(DYNC2I2):c.1098T>C (p.Ala366=)
|
|
|
NM_052844.4(DYNC2I2):c.1099G>A (p.Gly367Arg)
|
rs1344384758
|
|
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs)
|
rs759150616
|
|
NM_052844.4(DYNC2I2):c.1108G>T (p.Ala370Ser)
|
|
|
NM_052844.4(DYNC2I2):c.1112T>G (p.Leu371Arg)
|
|
|
NM_052844.4(DYNC2I2):c.1114A>T (p.Thr372Ser)
|
rs1589428189
|
|
NM_052844.4(DYNC2I2):c.1115C>T (p.Thr372Met)
|
|
|
NM_052844.4(DYNC2I2):c.1117_1118del (p.Arg373fs)
|
|
|
NM_052844.4(DYNC2I2):c.1118G>A (p.Arg373Gln)
|
|
|
NM_052844.4(DYNC2I2):c.1118G>T (p.Arg373Leu)
|
rs201326058
|
|
NM_052844.4(DYNC2I2):c.1125C>A (p.Pro375=)
|
|
|
NM_052844.4(DYNC2I2):c.1135C>T (p.Pro379Ser)
|
|
|
NM_052844.4(DYNC2I2):c.1141C>T (p.Arg381Trp)
|
|
|
NM_052844.4(DYNC2I2):c.1155G>C (p.Gln385His)
|
|
|
NM_052844.4(DYNC2I2):c.1164C>T (p.Phe388=)
|
rs1860339417
|
|
NM_052844.4(DYNC2I2):c.1165_1167del (p.Ser389del)
|
|
|
NM_052844.4(DYNC2I2):c.1169C>G (p.Pro390Arg)
|
|
|
NM_052844.4(DYNC2I2):c.116A>G (p.Gln39Arg)
|
rs1000127877
|
|
NM_052844.4(DYNC2I2):c.1171C>A (p.His391Asn)
|
|
|
NM_052844.4(DYNC2I2):c.1171C>G (p.His391Asp)
|
rs537004785
|
|
NM_052844.4(DYNC2I2):c.1171C>T (p.His391Tyr)
|
|
|
NM_052844.4(DYNC2I2):c.1171dup (p.His391fs)
|
|
|
NM_052844.4(DYNC2I2):c.1173C>T (p.His391=)
|
|
|
NM_052844.4(DYNC2I2):c.1176C>T (p.Gly392=)
|
|
|
NM_052844.4(DYNC2I2):c.1178G>A (p.Gly393Asp)
|
|
|
NM_052844.4(DYNC2I2):c.1182C>T (p.Pro394=)
|
|
|
NM_052844.4(DYNC2I2):c.1186T>C (p.Tyr396His)
|
|
|
NM_052844.4(DYNC2I2):c.1189T>C (p.Ser397Pro)
|
|
|
NM_052844.4(DYNC2I2):c.1191T>A (p.Ser397=)
|
|
|
NM_052844.4(DYNC2I2):c.1198_1201dup (p.Ser401fs)
|
rs1860335967
|
|
NM_052844.4(DYNC2I2):c.1201T>C (p.Ser401Pro)
|
|
|
NM_052844.4(DYNC2I2):c.1212C>T (p.His404=)
|
|
|
NM_052844.4(DYNC2I2):c.1214+16_1214+22del
|
rs548912505
|
|
NM_052844.4(DYNC2I2):c.1214+5G>A
|
|
|
NM_052844.4(DYNC2I2):c.1214+8G>A
|
|
|
NM_052844.4(DYNC2I2):c.1215-10T>C
|
|
|
NM_052844.4(DYNC2I2):c.1215-15C>T
|
|
|
NM_052844.4(DYNC2I2):c.1215-18C>G
|
|
|
NM_052844.4(DYNC2I2):c.1215-6G>A
|
|
|
NM_052844.4(DYNC2I2):c.1215-7C>G
|
rs541309511
|
|
NM_052844.4(DYNC2I2):c.1215-7C>T
|
|
|
NM_052844.4(DYNC2I2):c.123G>C (p.Glu41Asp)
|
|
|
NM_052844.4(DYNC2I2):c.1241A>G (p.Asp414Gly)
|
rs2132136694
|
|
NM_052844.4(DYNC2I2):c.1242C>T (p.Asp414=)
|
|
|
NM_052844.4(DYNC2I2):c.1244G>A (p.Gly415Glu)
|
rs2132136665
|
|
NM_052844.4(DYNC2I2):c.1245G>A (p.Gly415=)
|
|
|
NM_052844.4(DYNC2I2):c.1249G>A (p.Val417Ile)
|
|
|
NM_052844.4(DYNC2I2):c.1251C>T (p.Val417=)
|
|
|
NM_052844.4(DYNC2I2):c.1256T>G (p.Leu419Arg)
|
|
|
NM_052844.4(DYNC2I2):c.1264A>G (p.Met422Val)
|
|
|
NM_052844.4(DYNC2I2):c.126C>T (p.Thr42=)
|
|
|
NM_052844.4(DYNC2I2):c.1275C>T (p.Ala425=)
|
|
|
NM_052844.4(DYNC2I2):c.1291C>A (p.Leu431Met)
|
|
|
NM_052844.4(DYNC2I2):c.1294C>T (p.Gln432Ter)
|
|
|
NM_052844.4(DYNC2I2):c.1297C>G (p.Leu433Val)
|
|
|
NM_052844.4(DYNC2I2):c.1305C>G (p.Leu435=)
|
|
|
NM_052844.4(DYNC2I2):c.130G>T (p.Gly44Cys)
|
|
|
NM_052844.4(DYNC2I2):c.1311T>C (p.Tyr437=)
|
|
|
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs)
|
rs753802842
|
|
NM_052844.4(DYNC2I2):c.1313dup (p.Phe439fs)
|
|
|
NM_052844.4(DYNC2I2):c.1315_1318del (p.Phe439fs)
|
rs760226714
|
|
NM_052844.4(DYNC2I2):c.1315_1318dup (p.Ala440fs)
|
|
|
NM_052844.4(DYNC2I2):c.1321G>A (p.Val441Met)
|
|
|
NM_052844.4(DYNC2I2):c.1325G>A (p.Arg442His)
|
|
|
NM_052844.4(DYNC2I2):c.1336G>T (p.Val446Leu)
|
rs746286697
|
|
NM_052844.4(DYNC2I2):c.133G>A (p.Val45Met)
|
|
|
NM_052844.4(DYNC2I2):c.1340G>A (p.Arg447Gln)
|
rs587777094
|
|
NM_052844.4(DYNC2I2):c.1345T>C (p.Leu449=)
|
|
|
NM_052844.4(DYNC2I2):c.1354G>C (p.Ala452Pro)
|
rs2132135903
|
|
NM_052844.4(DYNC2I2):c.1355C>T (p.Ala452Val)
|
|
|
NM_052844.4(DYNC2I2):c.1357G>A (p.Ala453Thr)
|
|
|
NM_052844.4(DYNC2I2):c.1360G>A (p.Ala454Thr)
|
|
|
NM_052844.4(DYNC2I2):c.1361C>G (p.Ala454Gly)
|
|
|
NM_052844.4(DYNC2I2):c.1362C>A (p.Ala454=)
|
|
|
NM_052844.4(DYNC2I2):c.1362C>T (p.Ala454=)
|
|
|
NM_052844.4(DYNC2I2):c.1372+10G>C
|
rs1023019503
|
|
NM_052844.4(DYNC2I2):c.1372+12_1372+18del
|
rs1038611808
|
|
NM_052844.4(DYNC2I2):c.1372+13C>A
|
|
|
NM_052844.4(DYNC2I2):c.1372+13C>T
|
|
|
NM_052844.4(DYNC2I2):c.1372+13dup
|
|
|
NM_052844.4(DYNC2I2):c.1372+16T>A
|
|
|
NM_052844.4(DYNC2I2):c.1372+19G>A
|
|
|
NM_052844.4(DYNC2I2):c.1372+1G>A
|
|
|
NM_052844.4(DYNC2I2):c.1372+20C>A
|
|
|
NM_052844.4(DYNC2I2):c.1372+5del
|
rs772722096
|
|
NM_052844.4(DYNC2I2):c.1373-12CT[2]
|
|
|
NM_052844.4(DYNC2I2):c.1373-14G>C
|
|
|
NM_052844.4(DYNC2I2):c.1373-16_1373-15del
|
|
|
NM_052844.4(DYNC2I2):c.137C>T (p.Ala46Val)
|
rs1234829068
|
|
NM_052844.4(DYNC2I2):c.1395C>T (p.Leu465=)
|
|
|
NM_052844.4(DYNC2I2):c.140C>G (p.Ser47Cys)
|
rs1860830386
|
|
NM_052844.4(DYNC2I2):c.140C>T (p.Ser47Phe)
|
|
|
NM_052844.4(DYNC2I2):c.1412A>G (p.Lys471Arg)
|
rs2132131817
|
|
NM_052844.4(DYNC2I2):c.1417A>C (p.Thr473Pro)
|
|
|
NM_052844.4(DYNC2I2):c.1418_1419del (p.Thr473fs)
|
rs755570414
|
|
NM_052844.4(DYNC2I2):c.1429A>G (p.Lys477Glu)
|
rs2132131357
|
|
NM_052844.4(DYNC2I2):c.1437C>T (p.Thr479=)
|
|
|
NM_052844.4(DYNC2I2):c.1449C>A (p.Ser483Arg)
|
rs1445564979
|
|
NM_052844.4(DYNC2I2):c.1449C>T (p.Ser483=)
|
|
|
NM_052844.4(DYNC2I2):c.1453G>A (p.Val485Ile)
|
rs375843859
|
|
NM_052844.4(DYNC2I2):c.1456T>C (p.Tyr486His)
|
|
|
NM_052844.4(DYNC2I2):c.1457A>G (p.Tyr486Cys)
|
|
|
NM_052844.4(DYNC2I2):c.1458C>T (p.Tyr486=)
|
|
|
NM_052844.4(DYNC2I2):c.1461T>C (p.Cys487=)
|
|
|
NM_052844.4(DYNC2I2):c.1461_1464dup (p.Glu489fs)
|
|
|
NM_052844.4(DYNC2I2):c.1467G>A (p.Glu489=)
|
|
|
NM_052844.4(DYNC2I2):c.1496C>T (p.Ala499Val)
|
|
|
NM_052844.4(DYNC2I2):c.14C>A (p.Ala5Glu)
|
rs544655044
|
|
NM_052844.4(DYNC2I2):c.1503C>T (p.Gly501=)
|
|
|
NM_052844.4(DYNC2I2):c.1509_1515del (p.Gln504_Gly505insTer)
|
|
|
NM_052844.4(DYNC2I2):c.150G>T (p.Ser50=)
|
|
|
NM_052844.4(DYNC2I2):c.1515C>A (p.Gly505=)
|
|
|
NM_052844.4(DYNC2I2):c.1520T>C (p.Val507Ala)
|
|
|
NM_052844.4(DYNC2I2):c.1531C>T (p.Gln511Ter)
|
|
|
NM_052844.4(DYNC2I2):c.1536G>A (p.Leu512=)
|
|
|
NM_052844.4(DYNC2I2):c.153G>A (p.Gln51=)
|
|
|
NM_052844.4(DYNC2I2):c.1541C>T (p.Thr514Ile)
|
|
|
NM_052844.4(DYNC2I2):c.1551G>A (p.Thr517=)
|
rs148693978
|
|
NM_052844.4(DYNC2I2):c.1558G>A (p.Gly520Arg)
|
|
|
NM_052844.4(DYNC2I2):c.1564C>A (p.Arg522=)
|
|
|
NM_052844.4(DYNC2I2):c.1564C>G (p.Arg522Gly)
|
|
|
NM_052844.4(DYNC2I2):c.1570G>A (p.Ala524Thr)
|
rs752702804
|
|
NM_052844.4(DYNC2I2):c.158G>A (p.Arg53Lys)
|
|
|
NM_052844.4(DYNC2I2):c.159G>T (p.Arg53Ser)
|
|
|
NM_052844.4(DYNC2I2):c.15G>A (p.Ala5=)
|
|
|
NM_052844.4(DYNC2I2):c.1604C>T (p.Ala535Val)
|
rs758735687
|
|
NM_052844.4(DYNC2I2):c.1607C>T (p.Ala536Val)
|
|
|
NM_052844.4(DYNC2I2):c.173T>C (p.Ile58Thr)
|
rs763670176
|
|
NM_052844.4(DYNC2I2):c.17A>C (p.Gln6Pro)
|
|
|
NM_052844.4(DYNC2I2):c.182A>G (p.Glu61Gly)
|
|
|
NM_052844.4(DYNC2I2):c.186+15C>T
|
|
|
NM_052844.4(DYNC2I2):c.186+17C>T
|
rs570556602
|
|
NM_052844.4(DYNC2I2):c.186+7G>C
|
|
|
NM_052844.4(DYNC2I2):c.186G>A (p.Thr62=)
|
|
|
NM_052844.4(DYNC2I2):c.187-11C>T
|
|
|
NM_052844.4(DYNC2I2):c.187-18_187-17insTTGTA
|
|
|
NM_052844.4(DYNC2I2):c.188A>G (p.Lys63Arg)
|
|
|
NM_052844.4(DYNC2I2):c.200C>T (p.Thr67Met)
|
|
|
NM_052844.4(DYNC2I2):c.201G>A (p.Thr67=)
|
rs2132156412
|
|
NM_052844.4(DYNC2I2):c.215C>T (p.Thr72Ile)
|
|
|
NM_052844.4(DYNC2I2):c.218C>A (p.Ala73Asp)
|
|
|
NM_052844.4(DYNC2I2):c.21G>A (p.Pro7=)
|
|
|
NM_052844.4(DYNC2I2):c.21G>C (p.Pro7=)
|
|
|
NM_052844.4(DYNC2I2):c.245_246del (p.His82fs)
|
|
|
NM_052844.4(DYNC2I2):c.252C>T (p.Asp84=)
|
|
|
NM_052844.4(DYNC2I2):c.253G>A (p.Ala85Thr)
|
|
|
NM_052844.4(DYNC2I2):c.256del (p.Gln86fs)
|
|
|
NM_052844.4(DYNC2I2):c.267G>A (p.Thr89=)
|
|
|
NM_052844.4(DYNC2I2):c.26C>A (p.Pro9Gln)
|
rs748839336
|
|
NM_052844.4(DYNC2I2):c.26del (p.Pro9fs)
|
rs763975565
|
|
NM_052844.4(DYNC2I2):c.273C>T (p.Ala91=)
|
|
|
NM_052844.4(DYNC2I2):c.27A>T (p.Pro9=)
|
|
|
NM_052844.4(DYNC2I2):c.280C>T (p.Pro94Ser)
|
rs1860501994
|
|
NM_052844.4(DYNC2I2):c.285C>G (p.Val95=)
|
|
|
NM_052844.4(DYNC2I2):c.288C>T (p.Ser96=)
|
|
|
NM_052844.4(DYNC2I2):c.295C>G (p.Pro99Ala)
|
|
|
NM_052844.4(DYNC2I2):c.295C>T (p.Pro99Ser)
|
|
|
NM_052844.4(DYNC2I2):c.296C>T (p.Pro99Leu)
|
rs2132156076
|
|
NM_052844.4(DYNC2I2):c.300G>A (p.Pro100=)
|
|
|
NM_052844.4(DYNC2I2):c.309_310inv (p.Asp104Asn)
|
|
|
NM_052844.4(DYNC2I2):c.312C>T (p.Asp104=)
|
|
|
NM_052844.4(DYNC2I2):c.319A>G (p.Arg107Gly)
|
rs759672549
|
|
NM_052844.4(DYNC2I2):c.324C>G (p.Leu108=)
|
|
|
NM_052844.4(DYNC2I2):c.324C>T (p.Leu108=)
|
rs199987486
|
|
NM_052844.4(DYNC2I2):c.325G>T (p.Ala109Ser)
|
rs773435636
|
|
NM_052844.4(DYNC2I2):c.330C>T (p.Ala110=)
|
|
|
NM_052844.4(DYNC2I2):c.334C>A (p.Leu112Ile)
|
|
|
NM_052844.4(DYNC2I2):c.337C>A (p.Arg113=)
|
|
|
NM_052844.4(DYNC2I2):c.337C>T (p.Arg113Trp)
|
rs199920288
|
|
NM_052844.4(DYNC2I2):c.347_348del (p.Glu116fs)
|
rs2132155831
|
|
NM_052844.4(DYNC2I2):c.347_348delinsTT (p.Glu116Val)
|
|
|
NM_052844.4(DYNC2I2):c.360C>T (p.Ile120=)
|
|
|
NM_052844.4(DYNC2I2):c.361C>T (p.Arg121Ter)
|
rs371188707
|
|
NM_052844.4(DYNC2I2):c.37G>C (p.Ala13Pro)
|
rs1235612644
|
|
NM_052844.4(DYNC2I2):c.388C>T (p.His130Tyr)
|
rs765530543
|
|
NM_052844.4(DYNC2I2):c.38C>G (p.Ala13Gly)
|
|
|
NM_052844.4(DYNC2I2):c.420C>G (p.Thr140=)
|
rs541654387
|
|
NM_052844.4(DYNC2I2):c.421G>A (p.Glu141Lys)
|
|
|
NM_052844.4(DYNC2I2):c.424CAG[4] (p.Gln144dup)
|
rs2132155546
|
|
NM_052844.4(DYNC2I2):c.428A>C (p.Gln143Pro)
|
|
|
NM_052844.4(DYNC2I2):c.433A>G (p.Met145Val)
|
rs2132155527
|
|
NM_052844.4(DYNC2I2):c.435+11G>A
|
rs202171371
|
|
NM_052844.4(DYNC2I2):c.435+12G>C
|
|
|
NM_052844.4(DYNC2I2):c.435+16dup
|
|
|
NM_052844.4(DYNC2I2):c.436-19G>A
|
|
|
NM_052844.4(DYNC2I2):c.436-19G>C
|
|
|
NM_052844.4(DYNC2I2):c.436-20G>C
|
rs1206177711
|
|
NM_052844.4(DYNC2I2):c.436-3C>T
|
|
|
NM_052844.4(DYNC2I2):c.436-4G>T
|
|
|
NM_052844.4(DYNC2I2):c.436-5C>T
|
|
|
NM_052844.4(DYNC2I2):c.447_448del (p.Thr151fs)
|
|
|
NM_052844.4(DYNC2I2):c.44G>A (p.Ser15Asn)
|
rs752793349
|
|
NM_052844.4(DYNC2I2):c.44G>C (p.Ser15Thr)
|
|
|
NM_052844.4(DYNC2I2):c.45C>T (p.Ser15=)
|
|
|
NM_052844.4(DYNC2I2):c.465G>A (p.Pro155=)
|
|
|
NM_052844.4(DYNC2I2):c.474A>G (p.Gln158=)
|
|
|
NM_052844.4(DYNC2I2):c.4G>A (p.Ala2Thr)
|
rs867246942
|
|
NM_052844.4(DYNC2I2):c.50G>A (p.Gly17Asp)
|
|
|
NM_052844.4(DYNC2I2):c.51_64dup (p.Ala22fs)
|
|
|
NM_052844.4(DYNC2I2):c.529G>T (p.Ala177Ser)
|
|
|
NM_052844.4(DYNC2I2):c.52G>A (p.Val18Ile)
|
|
|
NM_052844.4(DYNC2I2):c.546-12G>A
|
|
|
NM_052844.4(DYNC2I2):c.546-15C>A
|
|
|
NM_052844.4(DYNC2I2):c.546-1_547del
|
|
|
NM_052844.4(DYNC2I2):c.546-3C>T
|
|
|
NM_052844.4(DYNC2I2):c.554A>T (p.His185Leu)
|
|
|
NM_052844.4(DYNC2I2):c.555T>C (p.His185=)
|
|
|
NM_052844.4(DYNC2I2):c.56C>T (p.Ala19Val)
|
|
|
NM_052844.4(DYNC2I2):c.570G>A (p.Thr190=)
|
|
|
NM_052844.4(DYNC2I2):c.571C>T (p.Leu191Phe)
|
|
|
NM_052844.4(DYNC2I2):c.582C>T (p.Phe194=)
|
|
|
NM_052844.4(DYNC2I2):c.604C>T (p.Arg202Trp)
|
|
|
NM_052844.4(DYNC2I2):c.621C>G (p.Pro207=)
|
|
|
NM_052844.4(DYNC2I2):c.629C>G (p.Pro210Arg)
|
|
|
NM_052844.4(DYNC2I2):c.629C>T (p.Pro210Leu)
|
rs780689247
|
|
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs)
|
rs2132146546
|
|
NM_052844.4(DYNC2I2):c.632C>T (p.Ser211Leu)
|
|
|
NM_052844.4(DYNC2I2):c.636C>T (p.Ala212=)
|
|
|
NM_052844.4(DYNC2I2):c.654C>G (p.Ser218Arg)
|
rs750407126
|
|
NM_052844.4(DYNC2I2):c.655G>A (p.Ala219Thr)
|
|
|
NM_052844.4(DYNC2I2):c.657T>C (p.Ala219=)
|
|
|
NM_052844.4(DYNC2I2):c.663G>T (p.Leu221=)
|
|
|
NM_052844.4(DYNC2I2):c.671C>T (p.Ala224Val)
|
|
|
NM_052844.4(DYNC2I2):c.683C>T (p.Thr228Met)
|
|
|
NM_052844.4(DYNC2I2):c.697G>A (p.Val233Ile)
|
|
|
NM_052844.4(DYNC2I2):c.703+10C>T
|
|
|
NM_052844.4(DYNC2I2):c.703+13C>T
|
|
|
NM_052844.4(DYNC2I2):c.703+17G>A
|
|
|
NM_052844.4(DYNC2I2):c.703+4A>G
|
|
|
NM_052844.4(DYNC2I2):c.704-26_704-14del
|
|
|
NM_052844.4(DYNC2I2):c.706G>A (p.Gly236Arg)
|
|
|
NM_052844.4(DYNC2I2):c.716G>T (p.Ser239Ile)
|
|
|
NM_052844.4(DYNC2I2):c.72C>T (p.Val24=)
|
|
|
NM_052844.4(DYNC2I2):c.743G>A (p.Ser248Asn)
|
|
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NM_052844.4(DYNC2I2):c.758C>T (p.Pro253Leu)
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NM_052844.4(DYNC2I2):c.780G>A (p.Leu260=)
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NM_052844.4(DYNC2I2):c.782C>T (p.Thr261Met)
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NM_052844.4(DYNC2I2):c.783G>A (p.Thr261=)
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NM_052844.4(DYNC2I2):c.791C>T (p.Thr264Ile)
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NM_052844.4(DYNC2I2):c.795C>T (p.His265=)
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NM_052844.4(DYNC2I2):c.806T>C (p.Val269Ala)
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NM_052844.4(DYNC2I2):c.813+11G>A
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NM_052844.4(DYNC2I2):c.813+12G>A
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NM_052844.4(DYNC2I2):c.813+17C>T
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NM_052844.4(DYNC2I2):c.813+19G>A
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rs368089184
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NM_052844.4(DYNC2I2):c.813+19G>T
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NM_052844.4(DYNC2I2):c.814-10G>T
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NM_052844.4(DYNC2I2):c.814-8T>C
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rs1441872910
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NM_052844.4(DYNC2I2):c.81G>C (p.Ala27=)
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NM_052844.4(DYNC2I2):c.829G>A (p.Glu277Lys)
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NM_052844.4(DYNC2I2):c.82A>G (p.Ser28Gly)
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NM_052844.4(DYNC2I2):c.834T>A (p.Pro278=)
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NM_052844.4(DYNC2I2):c.84C>T (p.Ser28=)
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NM_052844.4(DYNC2I2):c.855G>A (p.Gln285=)
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NM_052844.4(DYNC2I2):c.858G>A (p.Val286=)
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NM_052844.4(DYNC2I2):c.869C>T (p.Ala290Val)
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NM_052844.4(DYNC2I2):c.871_873del (p.Thr291del)
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NM_052844.4(DYNC2I2):c.888A>C (p.Leu296=)
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NM_052844.4(DYNC2I2):c.903C>G (p.Ile301Met)
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NM_052844.4(DYNC2I2):c.903C>T (p.Ile301=)
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rs369977994
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NM_052844.4(DYNC2I2):c.904G>A (p.Gly302Arg)
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rs373253932
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NM_052844.4(DYNC2I2):c.906G>A (p.Gly302=)
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NM_052844.4(DYNC2I2):c.906G>T (p.Gly302=)
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NM_052844.4(DYNC2I2):c.911G>T (p.Gly304Val)
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rs1233100011
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NM_052844.4(DYNC2I2):c.927A>G (p.Thr309=)
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NM_052844.4(DYNC2I2):c.929A>G (p.Glu310Gly)
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NM_052844.4(DYNC2I2):c.936C>T (p.Phe312=)
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NM_052844.4(DYNC2I2):c.937G>A (p.Ala313Thr)
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NM_052844.4(DYNC2I2):c.946A>T (p.Met316Leu)
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NM_052844.4(DYNC2I2):c.952C>G (p.Gln318Glu)
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NM_052844.4(DYNC2I2):c.955del (p.Leu319fs)
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NM_052844.4(DYNC2I2):c.95C>T (p.Pro32Leu)
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NM_052844.4(DYNC2I2):c.965G>A (p.Ser322Asn)
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NM_052844.4(DYNC2I2):c.981+12C>T
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NM_052844.4(DYNC2I2):c.981+14C>T
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NM_052844.4(DYNC2I2):c.981+4C>G
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NM_052844.4(DYNC2I2):c.982-12A>G
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NM_052844.4(DYNC2I2):c.982-9T>C
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