NM_004960.3(FUS):c.*1476T>C
|
rs11860134
|
0.98998
|
NM_005866.4(SIGMAR1):c.*31A>G
|
rs4879809
|
0.98825
|
NM_003334.4(UBA1):c.811+9C>G
|
rs4239964
|
0.98795
|
NM_018325.5(C9orf72):c.665+115_665+117dup
|
rs3063748
|
0.98615
|
NM_020919.4(ALS2):c.4123-64G>A
|
rs1210940
|
0.97856
|
NM_004960.4(FUS):c.-54A>G
|
rs929867
|
0.95117
|
NM_213720.3(CHCHD10):c.261+11A>G
|
rs131444
|
0.92009
|
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=)
|
rs179468
|
0.91291
|
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)
|
rs6501820
|
0.89534
|
NM_020919.4(ALS2):c.4627-69T>A
|
rs3219171
|
0.89021
|
NM_020919.4(ALS2):c.4581-48T>C
|
rs3219170
|
0.89015
|
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)
|
rs3219168
|
0.89012
|
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala)
|
rs10103355
|
0.87079
|
NM_001145809.2(MYH14):c.3033+11T>C
|
rs930086
|
0.86981
|
NM_020919.4(ALS2):c.1102G>A (p.Val368Met)
|
rs3219156
|
0.86916
|
NM_001145809.2(MYH14):c.5788-41A>G
|
rs889002
|
0.83244
|
NM_021076.4(NEFH):c.2232T>C (p.Ala744=)
|
rs165923
|
0.82375
|
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)
|
rs11540913
|
0.82371
|
NM_020919.4(ALS2):c.4004+25C>T
|
rs3219167
|
0.81578
|
NM_001008212.2(OPTN):c.553-5C>T
|
rs2244380
|
0.80823
|
NM_021076.4(NEFH):c.2784A>G (p.Val928=)
|
rs165625
|
0.80626
|
NM_001145809.2(MYH14):c.5678+12C>T
|
rs3826772
|
0.78229
|
NM_198681.4(PLEKHG5):c.-267G>A
|
rs1556035
|
0.77574
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)
|
rs560096
|
0.76511
|
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)
|
rs1249463
|
0.76080
|
NM_002180.3(IGHMBP2):c.*255T>C
|
rs564244
|
0.75917
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_007126.5(VCP):c.1360-35A>G
|
rs2258240
|
0.75740
|
NM_007126.5(VCP):c.811+3G>A
|
rs514492
|
0.75591
|
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=)
|
rs4098854
|
0.75204
|
NM_001122955.4(BSCL2):c.766-49T>C
|
rs2850597
|
0.75076
|
NM_001122955.4(BSCL2):c.765+69A>G
|
rs2850596
|
0.74808
|
NM_004184.4(WARS1):c.1254+35T>C
|
rs2234530
|
0.74617
|
NM_001145809.2(MYH14):c.2694+30T>C
|
rs1529492
|
0.74599
|
NM_001145809.2(MYH14):c.2250A>G (p.Pro750=)
|
rs1651553
|
0.74436
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402
|
0.70073
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_004184.4(WARS1):c.826+6A>G
|
rs941923
|
0.68233
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_004184.4(WARS1):c.1003C>T (p.Leu335=)
|
rs9453
|
0.67569
|
NM_001145809.2(MYH14):c.5469+16C>T
|
rs3745510
|
0.64922
|
NM_207346.3(TSEN54):c.285+32C>A
|
rs7218675
|
0.64612
|
NM_177924.5(ASAH1):c.457+45A>G
|
rs2073574
|
0.64032
|
NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=)
|
rs3745509
|
0.63924
|
NM_006308.3(HSPB3):c.369T>C (p.Gly123=)
|
rs7823
|
0.63826
|
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)
|
rs8064529
|
0.63819
|
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)
|
rs4935
|
0.62369
|
NM_001372574.1(ATXN2):c.-91C>T
|
rs695872
|
0.61029
|
NM_001372574.1(ATXN2):c.-162C>G
|
rs695871
|
0.60874
|
NM_021625.5(TRPV4):c.670A>C (p.Arg224=)
|
rs3825394
|
0.60669
|
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)
|
rs7216673
|
0.60248
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
NM_001145809.2(MYH14):c.657G>A (p.Ala219=)
|
rs4801822
|
0.56915
|
NM_007126.5(VCP):c.1695+8A>G
|
rs684562
|
0.54947
|
NM_020919.4(ALS2):c.2171-62C>T
|
rs3731703
|
0.54921
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
NM_199189.2(MATR3):c.-610C>G
|
rs11242456
|
0.53822
|
NM_006308.3(HSPB3):c.282G>A (p.Leu94=)
|
rs7699
|
0.53709
|
NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=)
|
rs3745504
|
0.53291
|
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)
|
rs4797
|
0.53290
|
NM_001371279.1(REEP1):c.33-23A>C
|
rs1863059
|
0.52882
|
NM_018834.6(MATR3):c.*1288T>G
|
rs10515507
|
0.51394
|
NM_001953.5(TYMP):c.972C>T (p.Ala324=)
|
rs131804
|
0.51130
|
NM_001145809.2(MYH14):c.3681-26A>T
|
rs788337
|
0.50766
|
NM_018834.6(MATR3):c.*672G>A
|
rs7305
|
0.50625
|
NM_002047.4(GARS1):c.659-43C>A
|
rs1558064
|
0.49314
|
NM_014845.6(FIG4):c.1948+3A>G
|
rs10499054
|
0.49269
|
NM_004738.5(VAPB):c.*5250T>C
|
rs6015274
|
0.49186
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401
|
0.48477
|
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
NM_177924.5(ASAH1):c.458-68T>C
|
rs7824644
|
0.48338
|
NM_020919.4(ALS2):c.2466G>A (p.Val822=)
|
rs2276615
|
0.46627
|
NM_001145809.2(MYH14):c.2355-14C>T
|
rs12981413
|
0.46235
|
NM_004960.4(FUS):c.291C>T (p.Tyr97=)
|
rs1052352
|
0.45484
|
NM_005235.3(ERBB4):c.1490-15T>C
|
rs4673628
|
0.45282
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_015046.7(SETX):c.6655-24G>A
|
rs11243704
|
0.44367
|
NM_013254.4(TBK1):c.978T>A (p.Ile326=)
|
rs7486100
|
0.43650
|
NM_004738.5(VAPB):c.315+35C>T
|
rs2234487
|
0.43269
|
NM_021815.5(SLC5A7):c.741+44G>A
|
rs3731683
|
0.43078
|
NM_177924.5(ASAH1):c.303+53T>G
|
rs4921567
|
0.42485
|
NM_177924.5(ASAH1):c.214G>A (p.Val72Met)
|
rs1071645
|
0.42367
|
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val)
|
rs1049874
|
0.42365
|
NM_177924.5(ASAH1):c.126-21A>G
|
rs12547845
|
0.42360
|
NM_177924.5(ASAH1):c.126-100C>T
|
rs12549594
|
0.42357
|
NM_177924.5(ASAH1):c.126-1873G>A
|
rs3753115
|
0.42287
|
NM_177924.5(ASAH1):c.303+7G>A
|
rs4921834
|
0.42285
|
NM_205836.3(FBXO38):c.1619-4G>T
|
rs11168047
|
0.42278
|
NM_205836.3(FBXO38):c.3170+11T>C
|
rs10051223
|
0.42229
|
NM_001371279.1(REEP1):c.417+45T>C
|
rs12988844
|
0.39574
|
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)
|
rs2276625
|
0.39011
|
NM_001145809.2(MYH14):c.2205C>G (p.Arg735=)
|
rs378811
|
0.38312
|
NM_016955.4(SEPSECS):c.*807A>G
|
rs13109061
|
0.38145
|
NM_001371279.1(REEP1):c.105+26C>T
|
rs1863058
|
0.37197
|
NM_021980.4(OPTN):c.-161T>C
|
rs71492279
|
0.36888
|
NM_014845.6(FIG4):c.*120C>T
|
rs1127775
|
0.35612
|
NM_177924.5(ASAH1):c.303+117T>C
|
rs2427746
|
0.35577
|
NM_177924.5(ASAH1):c.304-42G>A
|
rs12675283
|
0.34950
|
NM_177924.5(ASAH1):c.303+21C>A
|
rs2106037
|
0.34725
|
NM_014845.6(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771
|
0.34581
|
NM_014365.3(HSPB8):c.*644A>G
|
rs11038
|
0.34575
|
NM_003384.3(VRK1):c.217-244T>C
|
rs12586511
|
0.34167
|
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
0.33924
|
NM_177924.5(ASAH1):c.503+71G>A
|
rs6586683
|
0.33468
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_177924.5(ASAH1):c.503+127G>A
|
rs7387930
|
0.32681
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
NM_003900.5(SQSTM1):c.755-23G>A
|
rs2241349
|
0.32312
|
NM_001145809.2(MYH14):c.1114+13C>T
|
rs11666328
|
0.32285
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_003334.4(UBA1):c.679-33C>G
|
rs4239963
|
0.29685
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)
|
rs61741379
|
0.28900
|
NM_205836.3(FBXO38):c.426+24T>G
|
rs34685718
|
0.28226
|
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=)
|
rs730600
|
0.27319
|
NM_020631.6(PLEKHG5):c.*290T>C
|
rs14708
|
0.27269
|
NM_205836.3(FBXO38):c.1774T>C (p.Ser592Pro)
|
rs10043775
|
0.27145
|
NM_001003800.2(BICD2):c.1063-111G>C
|
rs56339669
|
0.26288
|
NM_006736.6(DNAJB2):c.66-14C>T
|
rs2276638
|
0.26148
|
NM_177924.5(ASAH1):c.*124T>A
|
rs417661
|
0.25434
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_004960.3(FUS):c.*770G>C
|
rs4889537
|
0.24493
|
NM_015046.7(SETX):c.5374+16C>T
|
rs2296872
|
0.24325
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala)
|
rs622082
|
0.24183
|
NM_004960.4(FUS):c.147C>A (p.Gly49=)
|
rs741810
|
0.24179
|
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)
|
rs546382
|
0.24174
|
NM_006736.6(DNAJB2):c.-36-110G>C
|
rs908197
|
0.23575
|
NM_001145809.2(MYH14):c.2355-17C>T
|
rs28482851
|
0.23202
|
NM_014845.6(FIG4):c.1948+46C>A
|
rs9320315
|
0.23093
|
NM_002180.3(IGHMBP2):c.*681T>C
|
rs9095
|
0.22873
|
NM_014043.4(CHMP2B):c.*1589G>A
|
rs1060241
|
0.22762
|
NM_020631.6(PLEKHG5):c.-88+5G>A
|
rs3007429
|
0.22575
|
NM_004738.5(VAPB):c.*5298C>T
|
rs6015275
|
0.22495
|
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)
|
rs17612126
|
0.22387
|
NM_002180.3(IGHMBP2):c.*427C>T
|
rs3750980
|
0.22234
|
NM_001008212.2(OPTN):c.369+39T>G
|
rs79529484
|
0.22121
|
NM_177924.5(ASAH1):c.704-19T>C
|
rs17515291
|
0.21755
|
NM_018325.5(C9orf72):c.*1344C>T
|
rs13691
|
0.21385
|
NM_001376.5(DYNC1H1):c.4396-25A>G
|
rs2251644
|
0.20803
|
NM_018325.5(C9orf72):c.*1406T>C
|
rs9103
|
0.20796
|
NM_018325.5(C9orf72):c.870C>T (p.Ser290=)
|
rs10122902
|
0.20696
|
NM_001008212.2(OPTN):c.166+66A>G
|
rs10906303
|
0.20691
|
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)
|
rs2236654
|
0.20662
|
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)
|
rs11228413
|
0.20651
|
NM_001376.5(DYNC1H1):c.8344-30G>A
|
rs2180510
|
0.20452
|
NM_205836.3(FBXO38):c.962+18A>G
|
rs10077690
|
0.20380
|
NM_018325.5(C9orf72):c.-27G>A
|
rs10757668
|
0.20162
|
NM_003790.3(TNFRSF25):c.-16C>T
|
rs3007417
|
0.19870
|
NM_001372574.1(ATXN2):c.3043-12G>A
|
rs2073950
|
0.19844
|
NM_001008212.2(OPTN):c.102G>A (p.Thr34=)
|
rs2234968
|
0.19474
|
NM_020631.5(PLEKHG5):c.*990C>T
|
rs3007418
|
0.19422
|
NM_001376.5(DYNC1H1):c.1462-41G>A
|
rs2983422
|
0.19200
|
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu)
|
rs5763269
|
0.19153
|
NM_007126.5(VCP):c.*153G>T
|
rs1053318
|
0.19091
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_002180.3(IGHMBP2):c.-2C>T
|
rs4930624
|
0.18778
|
NM_020631.6(PLEKHG5):c.1681-20T>C
|
rs2986753
|
0.18735
|
NM_001008212.2(OPTN):c.-215G>A
|
rs11548142
|
0.18691
|
NM_018325.5(C9orf72):c.*921C>A
|
rs3739526
|
0.18576
|
NM_020919.4(ALS2):c.4580+7G>A
|
rs3219169
|
0.17898
|
NM_007126.5(VCP):c.129+47G>A
|
rs10972300
|
0.17835
|
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro)
|
rs1800866
|
0.17661
|
NM_001122955.4(BSCL2):c.486+11G>T
|
rs72929434
|
0.16805
|
NM_014365.3(HSPB8):c.*684G>A
|
rs1133026
|
0.16667
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_015046.7(SETX):c.*562C>A
|
rs11787894
|
0.16282
|
NM_015046.7(SETX):c.*626C>T
|
rs11795382
|
0.16247
|
NM_015046.7(SETX):c.7100+27A>G
|
rs2296865
|
0.16223
|
NM_020919.4(ALS2):c.20+7T>C
|
rs3219153
|
0.16113
|
NM_006736.6(DNAJB2):c.230-10G>A
|
rs3731897
|
0.16060
|
NM_004738.5(VAPB):c.*4271A>G
|
rs4549163
|
0.15908
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_001376.5(DYNC1H1):c.3333+23A>G
|
rs4900529
|
0.15530
|
NM_004738.5(VAPB):c.*1282A>G
|
rs1802459
|
0.15337
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala)
|
rs165602
|
0.14527
|
NM_001145809.2(MYH14):c.2827-9A>C
|
rs3745503
|
0.14515
|
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=)
|
rs3742037
|
0.14446
|
NM_002180.3(IGHMBP2):c.*665C>T
|
rs9769
|
0.14339
|
NM_007375.4(TARDBP):c.-13+95C>T
|
rs11121681
|
0.13481
|
NM_007375.3(TARDBP):c.-122G>A
|
rs11121679
|
0.13475
|
NM_003334.4(UBA1):c.1340G>A (p.Arg447His)
|
rs2070169
|
0.13373
|
NM_001097577.3(ANG):c.330T>G (p.Gly110=)
|
rs11701
|
0.13321
|
NM_021815.5(SLC5A7):c.741+18C>T
|
rs3731684
|
0.13300
|
NM_021625.5(TRPV4):c.789T>C (p.Asp263=)
|
rs3742034
|
0.12664
|
NM_021076.4(NEFH):c.1200C>T (p.Ala400=)
|
rs165734
|
0.12411
|
NM_001372574.1(ATXN2):c.57A>G (p.Gln19=)
|
rs76696028
|
0.12201
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
NM_004738.5(VAPB):c.*937G>C
|
rs1059794
|
0.11399
|
NM_020631.6(PLEKHG5):c.1801-12C>A
|
rs943584
|
0.11198
|
NM_001145.4(ANG):c.-332C>A
|
rs28589501
|
0.10899
|
NM_004738.5(VAPB):c.*4520T>C
|
rs763514
|
0.10837
|
NM_177924.5(ASAH1):c.79-3C>T
|
rs35513736
|
0.10703
|
NM_006736.6(DNAJB2):c.446-8G>A
|
rs3821039
|
0.10187
|
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=)
|
rs62639695
|
0.10172
|
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)
|
rs11559205
|
0.09934
|
NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser)
|
rs17769294
|
0.09705
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236
|
0.09556
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438
|
0.09548
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_004082.5(DCTN1):c.3610-20C>G
|
rs2268427
|
0.09345
|
NM_015046.7(SETX):c.*2262A>G
|
rs997784
|
0.09345
|
NM_015046.7(SETX):c.6935+8T>C
|
rs17148873
|
0.09319
|
NM_004738.5(VAPB):c.*1265G>C
|
rs7400
|
0.09272
|
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)
|
rs2279720
|
0.09131
|
NM_020631.5(PLEKHG5):c.*1304G>A
|
rs45604837
|
0.09117
|
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)
|
rs1044499
|
0.09006
|
NM_016955.4(SEPSECS):c.*455C>T
|
rs73252520
|
0.08857
|
NM_003334.4(UBA1):c.2220G>A (p.Pro740=)
|
rs2230147
|
0.08755
|
NM_003334.4(UBA1):c.1742-11G>C
|
rs5953010
|
0.08744
|
NM_014845.6(FIG4):c.*29G>A
|
rs10659
|
0.08648
|
NM_003384.3(VRK1):c.1159+43C>G
|
rs45457797
|
0.08564
|
NM_021625.5(TRPV4):c.795C>T (p.His265=)
|
rs1344554
|
0.08478
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
NM_020919.4(ALS2):c.2796C>T (p.Ser932=)
|
rs3219161
|
0.08298
|
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)
|
rs4593
|
0.08113
|
NM_004738.5(VAPB):c.*2819A>G
|
rs74568509
|
0.08036
|
NM_016955.4(SEPSECS):c.*2694A>G
|
rs956925
|
0.07936
|
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)
|
rs2302566
|
0.07763
|
NM_020919.4(ALS2):c.*1004G>A
|
rs11300
|
0.07577
|
NM_015046.7(SETX):c.3147C>T (p.His1049=)
|
rs3739921
|
0.07515
|
NM_021815.5(SLC5A7):c.265A>G (p.Ile89Val)
|
rs1013940
|
0.07497
|
NM_014365.3(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742
|
0.07444
|
NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)
|
rs8042919
|
0.07196
|
NM_015046.7(SETX):c.6546+32T>A
|
rs2296873
|
0.07069
|
NM_020631.6(PLEKHG5):c.43+13G>A
|
rs78593902
|
0.07001
|
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=)
|
rs61739588
|
0.06946
|
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys)
|
rs59371099
|
0.06827
|
NM_015046.7(SETX):c.*1365G>T
|
rs7875801
|
0.06684
|
NM_004738.5(VAPB):c.*4446G>A
|
rs79623348
|
0.06497
|
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)
|
rs3208406
|
0.06407
|
NM_002180.3(IGHMBP2):c.1418+18A>G
|
rs112575423
|
0.06280
|
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr)
|
rs74809741
|
0.06203
|
NM_004960.4(FUS):c.190+9T>C
|
rs73530283
|
0.06048
|
NM_004960.3(FUS):c.*1803C>T
|
rs16956408
|
0.06040
|
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val)
|
rs61740145
|
0.06002
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_004738.5(VAPB):c.*4868C>T
|
rs74748993
|
0.05916
|
NM_004738.5(VAPB):c.*4052C>T
|
rs76295834
|
0.05914
|
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=)
|
rs3138150
|
0.05741
|
NM_015046.7(SETX):c.498+30T>C
|
rs11790312
|
0.05653
|
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser)
|
rs76625876
|
0.05582
|
NM_020919.4(ALS2):c.*893C>T
|
rs3219174
|
0.05509
|
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=)
|
rs112471131
|
0.05506
|
NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr)
|
rs111677724
|
0.05376
|
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065
|
0.04917
|
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)
|
rs62088470
|
0.04801
|
NM_198935.3(SS18L1):c.961G>A (p.Ala321Thr)
|
rs36106901
|
0.04752
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_018834.6(MATR3):c.*1259G>C
|
rs62381613
|
0.04668
|
NM_018325.5(C9orf72):c.*248T>C
|
rs73440933
|
0.04662
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_005022.4(PFN1):c.334C>T (p.Leu112=)
|
rs13204
|
0.04611
|
NM_016955.4(SEPSECS):c.1211+7A>G
|
rs17408685
|
0.04557
|
NM_015046.7(SETX):c.*717T>C
|
rs17148857
|
0.04316
|
NM_002047.4(GARS1):c.1833T>C (p.Val611=)
|
rs14270
|
0.04182
|
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)
|
rs11553502
|
0.04180
|
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=)
|
rs13429423
|
0.04117
|
NM_014845.6(FIG4):c.67-7T>C
|
rs56378532
|
0.04073
|
NM_015046.7(SETX):c.*1700G>T
|
rs75682594
|
0.03993
|
NM_000454.4(SOD1):c.-109A>G
|
rs7277748
|
0.03982
|
NM_018834.6(MATR3):c.*177A>G
|
rs13698
|
0.03913
|
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met)
|
rs13420401
|
0.03855
|
NM_003334.4(UBA1):c.1742-18G>A
|
rs5953009
|
0.03846
|
NM_020919.4(ALS2):c.-95G>C
|
rs77327610
|
0.03775
|
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)
|
rs56092424
|
0.03763
|
NM_014365.3(HSPB8):c.*440C>G
|
rs13378054
|
0.03707
|
NM_020631.6(PLEKHG5):c.1393-19C>T
|
rs771920742
|
0.03659
|
NM_001122955.4(BSCL2):c.765+15C>T
|
rs79586077
|
0.03596
|
NM_014043.4(CHMP2B):c.*1503G>C
|
rs1060238
|
0.03503
|
NM_000454.5(SOD1):c.73-108T>A
|
rs16988404
|
0.03480
|
NM_020919.4(ALS2):c.280A>G (p.Ile94Val)
|
rs3219154
|
0.03476
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_018834.6(MATR3):c.*708T>C
|
rs14109
|
0.03387
|
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)
|
rs36014111
|
0.03348
|
NM_004960.4(FUS):c.153C>T (p.Gly51=)
|
rs61733962
|
0.03329
|
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=)
|
rs10058037
|
0.03284
|
NM_004960.3(FUS):c.*491T>G
|
rs73530293
|
0.03268
|
NM_205836.3(FBXO38):c.2680G>A (p.Ala894Thr)
|
rs11949133
|
0.03254
|
NM_004960.3(FUS):c.*2486G>A
|
rs73530298
|
0.03248
|
NM_004960.3(FUS):c.*2794G>C
|
rs17839571
|
0.03244
|
NM_001008212.2(OPTN):c.626+24G>A
|
rs11258211
|
0.03152
|
NM_021076.4(NEFH):c.2009T>A (p.Val670Glu)
|
rs190692435
|
0.03078
|
NM_014365.3(HSPB8):c.402T>C (p.Ile134=)
|
rs56323028
|
0.03035
|
NM_013254.4(TBK1):c.66T>C (p.Asn22=)
|
rs41292019
|
0.03018
|
NM_002047.2(GARS1):c.-205C>T
|
rs17159262
|
0.03007
|
NM_002047.2(GARS1):c.-217A>G
|
rs2970504
|
0.02929
|
NM_014043.4(CHMP2B):c.*1190G>T
|
rs115892684
|
0.02804
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02700
|
NM_014365.3(HSPB8):c.-193T>C
|
rs11549401
|
0.02683
|
NM_018834.6(MATR3):c.*1076T>C
|
rs2015602
|
0.02638
|
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)
|
rs61737997
|
0.02621
|
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)
|
rs34946105
|
0.02614
|
NM_004960.3(FUS):c.*910C>T
|
rs118018900
|
0.02606
|
NM_001540.5(HSPB1):c.*11C>T
|
rs1058872
|
0.02598
|
NM_005235.3(ERBB4):c.2202+15A>G
|
rs77836647
|
0.02566
|
NM_021625.5(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967
|
0.02557
|
NM_001145.4(ANG):c.-530T>C
|
rs117053048
|
0.02510
|
NM_001145.4(ANG):c.-579G>C
|
rs117466368
|
0.02509
|
NM_007375.4(TARDBP):c.*208G>A
|
rs148414479
|
0.02507
|
NM_001145.4(ANG):c.-401G>T
|
rs45591635
|
0.02505
|
NM_002937.5(RNASE4):c.-40T>C
|
rs117978329
|
0.02505
|
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg)
|
rs114619322
|
0.02505
|
NR_039718.1(MIR4497):n.66C>T
|
rs56079803
|
0.02373
|
NM_021625.5(TRPV4):c.854-5C>T
|
rs116401333
|
0.02337
|
NM_004082.5(DCTN1):c.*21C>T
|
rs11555696
|
0.02286
|
NM_014845.6(FIG4):c.-120C>T
|
rs75045314
|
0.02248
|
NM_205836.3(FBXO38):c.2654-16T>C
|
rs147707335
|
0.02178
|
NM_014845.6(FIG4):c.-121G>A
|
rs75509752
|
0.02164
|
NM_007375.4(TARDBP):c.*2331A>G
|
rs114897688
|
0.02160
|
NM_015046.7(SETX):c.*561A>C
|
rs73661150
|
0.02138
|
NM_025137.4(SPG11):c.6754+19A>G
|
rs116635875
|
0.02121
|
NM_007126.5(VCP):c.*596C>T
|
rs55745923
|
0.02117
|
NM_015046.7(SETX):c.498+20G>A
|
rs73659013
|
0.02106
|
NM_015046.7(SETX):c.6936-27T>G
|
rs2296866
|
0.02083
|
NM_001256054.3(C9orf72):c.-164T>C
|
rs41272893
|
0.02049
|
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=)
|
rs12115733
|
0.01994
|
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)
|
rs1130484
|
0.01851
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
NM_016955.4(SEPSECS):c.*638G>C
|
rs10004441
|
0.01839
|
NM_016955.4(SEPSECS):c.*2209A>G
|
rs9998044
|
0.01837
|
NM_002180.2(IGHMBP2):c.-68T>C
|
rs57258566
|
0.01836
|
NM_004960.3(FUS):c.*2393T>A
|
rs541197027
|
0.01834
|
NM_001145.4(ANG):c.-534C>T
|
rs117787610
|
0.01793
|
NM_018834.6(MATR3):c.*1278T>C
|
rs116341961
|
0.01780
|
NM_016955.4(SEPSECS):c.*2966A>G
|
rs115116065
|
0.01758
|
NM_001080421.3(UNC13A):c.4197+7C>T
|
rs148883310
|
0.01751
|
NM_002047.2(GARS1):c.-317G>A
|
rs116125961
|
0.01714
|
NM_004960.3(FUS):c.*989C>T
|
rs114772555
|
0.01702
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_153280.2(UBA1):c.*203C>T
|
rs182093778
|
0.01657
|
NM_015046.7(SETX):c.*1052T>A
|
rs12349210
|
0.01647
|
NM_015046.7(SETX):c.*1288T>C
|
rs72765812
|
0.01645
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_020631.5(PLEKHG5):c.*765T>A
|
rs538175057
|
0.01642
|
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=)
|
rs11548642
|
0.01636
|
NM_021625.5(TRPV4):c.387-4C>T
|
rs12305439
|
0.01630
|
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)
|
rs3007419
|
0.01628
|
NM_004738.5(VAPB):c.*4952C>T
|
rs116665485
|
0.01608
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)
|
rs7808770
|
0.01578
|
NM_015046.7(SETX):c.*849G>T
|
rs74975459
|
0.01559
|
NM_213720.3(CHCHD10):c.42-7C>G
|
rs567239313
|
0.01558
|
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)
|
rs55793208
|
0.01529
|
NM_205836.3(FBXO38):c.198A>G (p.Leu66=)
|
rs74863106
|
0.01529
|
NM_002047.4(GARS1):c.1761G>A (p.Thr587=)
|
rs3886641
|
0.01523
|
NM_014365.3(HSPB8):c.552C>T (p.Asn184=)
|
rs112052602
|
0.01515
|
NM_004960.3(FUS):c.*1420C>T
|
rs73530295
|
0.01500
|
NM_004960.4(FUS):c.1156C>A (p.Arg386=)
|
rs61733965
|
0.01496
|
NM_004960.4(FUS):c.524-5C>T
|
rs73530287
|
0.01495
|
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)
|
rs35635889
|
0.01470
|
NM_015046.7(SETX):c.*1224G>C
|
rs10491906
|
0.01458
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_016955.4(SEPSECS):c.*3848C>T
|
rs111294195
|
0.01439
|
NM_018834.6(MATR3):c.1602+6A>G
|
rs80036770
|
0.01434
|
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys)
|
rs61748794
|
0.01418
|
NM_013444.4(UBQLN2):c.*1258C>T
|
rs41306757
|
0.01401
|
NM_016042.4(EXOSC3):c.*197C>T
|
rs117073203
|
0.01382
|
NM_020631.5(PLEKHG5):c.*1313C>T
|
rs45574533
|
0.01380
|
NM_007126.5(VCP):c.18-5T>C
|
rs114256093
|
0.01353
|
NM_018834.6(MATR3):c.*1535A>G
|
rs111689401
|
0.01322
|
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)
|
rs17721059
|
0.01316
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_001008212.2(OPTN):c.*269C>T
|
rs111484304
|
0.01294
|
NM_001122955.4(BSCL2):c.88-662C>A
|
rs117597269
|
0.01291
|
NM_004082.5(DCTN1):c.1288-3C>T
|
rs72466490
|
0.01285
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
NM_001097577.3(ANG):c.363A>T (p.Thr121=)
|
rs2228653
|
0.01278
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
NM_016106.4(SCFD1):c.1297A>G (p.Thr433Ala)
|
rs61754285
|
0.01266
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe)
|
rs181906086
|
0.01248
|
NM_004960.4(FUS):c.-39A>G
|
rs67676356
|
0.01242
|
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)
|
rs113247976
|
0.01241
|
NM_014043.4(CHMP2B):c.-102C>T
|
rs36098294
|
0.01237
|
NM_015046.7(SETX):c.*351G>T
|
rs117409290
|
0.01236
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
NM_014845.5(FIG4):c.-182G>A
|
rs55873083
|
0.01220
|
NM_004082.5(DCTN1):c.34-11G>T
|
rs73948789
|
0.01216
|
NM_001008212.2(OPTN):c.-255C>G
|
rs2580915
|
0.01192
|
NM_018834.6(MATR3):c.-56G>A
|
rs59033177
|
0.01187
|
NM_020919.4(ALS2):c.*447G>A
|
rs3219173
|
0.01169
|
NM_016955.4(SEPSECS):c.*681A>C
|
rs76926200
|
0.01167
|
NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg)
|
rs34127289
|
0.01163
|
NM_020631.6(PLEKHG5):c.795+8G>A
|
rs114275646
|
0.01154
|
NM_014845.6(FIG4):c.*7C>T
|
rs113946190
|
0.01145
|
NM_004738.5(VAPB):c.*6182C>T
|
rs76708676
|
0.01132
|
NM_020631.5(PLEKHG5):c.*843G>T
|
rs12735472
|
0.01132
|
NM_018834.6(MATR3):c.*1425C>G
|
rs145516036
|
0.01098
|
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=)
|
rs624147
|
0.01079
|
NM_015046.7(SETX):c.*548A>T
|
rs139883935
|
0.01078
|
NM_014043.4(CHMP2B):c.*231T>C
|
rs17189270
|
0.01035
|
NM_014043.4(CHMP2B):c.-151C>A
|
rs77328592
|
0.01035
|
NM_016955.4(SEPSECS):c.*1041T>C
|
rs114420733
|
0.01027
|
NM_016042.4(EXOSC3):c.*296T>C
|
rs138197600
|
0.01009
|
NM_020919.4(ALS2):c.*105A>C
|
rs141509107
|
0.00995
|
NM_020919.4(ALS2):c.*379T>A
|
rs144613080
|
0.00995
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_020919.4(ALS2):c.*163A>G
|
rs3219172
|
0.00975
|
NM_007126.5(VCP):c.*906A>G
|
rs76360394
|
0.00965
|
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762
|
0.00959
|
NM_015046.7(SETX):c.-124C>T
|
rs114850064
|
0.00959
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu)
|
rs116807842
|
0.00956
|
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=)
|
rs61749272
|
0.00952
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00950
|
NM_005243.4(EWSR1):c.1393G>A (p.Gly465Ser)
|
rs41311143
|
0.00947
|
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr)
|
rs2228206
|
0.00946
|
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)
|
rs140226523
|
0.00943
|
NM_021625.5(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423
|
0.00939
|
NM_016955.4(SEPSECS):c.1120+12T>C
|
rs4697552
|
0.00916
|
NM_016042.4(EXOSC3):c.-12G>C
|
rs115431773
|
0.00907
|
NM_020919.4(ALS2):c.*942A>G
|
rs41309066
|
0.00903
|
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)
|
rs57451017
|
0.00901
|
NM_014845.6(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087
|
0.00891
|
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp)
|
rs11559048
|
0.00864
|
NM_004960.3(FUS):c.*626G>A
|
rs115626460
|
0.00863
|
NM_001008212.2(OPTN):c.627-10T>C
|
rs80327830
|
0.00853
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287
|
0.00833
|
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=)
|
rs114209691
|
0.00830
|
NM_020919.4(ALS2):c.*843G>A
|
rs41309062
|
0.00827
|
NM_020919.4(ALS2):c.4581-7A>G
|
rs114458388
|
0.00827
|
NM_021815.5(SLC5A7):c.1245C>T (p.Ile415=)
|
rs149442049
|
0.00818
|
NM_006058.5(TNIP1):c.437C>T (p.Ala146Val)
|
rs2233289
|
0.00813
|
NM_013254.4(TBK1):c.2139-11G>A
|
rs41292027
|
0.00800
|
NM_020631.6(PLEKHG5):c.*63C>T
|
rs45446394
|
0.00800
|
NM_002180.3(IGHMBP2):c.1757-18C>A
|
rs77247855
|
0.00796
|
NM_002180.3(IGHMBP2):c.*22C>T
|
rs80298715
|
0.00795
|
NM_020631.6(PLEKHG5):c.*108G>A
|
rs11800788
|
0.00786
|
NM_006308.3(HSPB3):c.199G>A (p.Gly67Ser)
|
rs35258119
|
0.00768
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_021076.4(NEFH):c.1740C>T (p.Ser580=)
|
rs114263951
|
0.00755
|
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)
|
rs111527940
|
0.00755
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
NM_000454.5(SOD1):c.170-20T>C
|
rs17885833
|
0.00737
|
NM_004738.5(VAPB):c.*6088C>T
|
rs147304840
|
0.00734
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_001008212.2(OPTN):c.123G>A (p.Leu41=)
|
rs11591687
|
0.00729
|
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys)
|
rs523747
|
0.00719
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)
|
rs2275996
|
0.00707
|
NM_004738.5(VAPB):c.*753C>G
|
rs6070466
|
0.00707
|
NM_001008212.2(OPTN):c.*562T>G
|
rs148646641
|
0.00706
|
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
|
rs78268395
|
0.00705
|
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)
|
rs115959591
|
0.00697
|
NM_014043.4(CHMP2B):c.*1588C>T
|
rs11426
|
0.00691
|
NM_014365.3(HSPB8):c.*581G>A
|
rs56754798
|
0.00690
|
NM_002047.4(GARS1):c.*73A>G
|
rs113598818
|
0.00687
|
NM_003334.4(UBA1):c.2308A>C (p.Asn770His)
|
rs143044923
|
0.00683
|
NM_021625.5(TRPV4):c.1341C>T (p.His447=)
|
rs57316123
|
0.00683
|
NM_007375.4(TARDBP):c.675A>G (p.Pro225=)
|
rs61741294
|
0.00675
|
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623
|
0.00673
|
NM_016955.4(SEPSECS):c.*3775A>G
|
rs115004931
|
0.00670
|
NM_018834.6(MATR3):c.*1482A>T
|
rs79616595
|
0.00669
|
NM_025137.4(SPG11):c.*243A>G
|
rs116069609
|
0.00669
|
NM_007126.5(VCP):c.1082-9G>T
|
rs12349922
|
0.00667
|
NM_025137.4(SPG11):c.2621-15T>G
|
rs188590034
|
0.00667
|
NM_015046.7(SETX):c.1968A>G (p.Val656=)
|
rs113997459
|
0.00654
|
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)
|
rs116333061
|
0.00653
|
NM_004082.5(DCTN1):c.3529+5G>A
|
rs72466494
|
0.00644
|
NM_016955.4(SEPSECS):c.935-5T>G
|
rs2302564
|
0.00644
|
NM_002047.2(GARS1):c.-225G>A
|
rs148593022
|
0.00641
|
NM_001122955.4(BSCL2):c.1234+20G>A
|
rs113229350
|
0.00638
|
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)
|
rs112201716
|
0.00633
|
NM_016955.4(SEPSECS):c.*2123A>G
|
rs142960382
|
0.00625
|
NM_007126.5(VCP):c.1092C>T (p.Asp364=)
|
rs61752947
|
0.00619
|
NM_014845.6(FIG4):c.447-16G>T
|
rs200890189
|
0.00618
|
NM_015158.5(KANK1):c.149A>T (p.Asp50Val)
|
rs61737971
|
0.00617
|
NM_006308.3(HSPB3):c.355A>G (p.Lys119Glu)
|
rs41270303
|
0.00612
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_002180.3(IGHMBP2):c.*744G>A
|
rs116625875
|
0.00591
|
NM_021625.5(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344
|
0.00582
|
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=)
|
rs138396245
|
0.00580
|
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)
|
rs1554066397
|
0.00571
|
NM_015046.7(SETX):c.*319C>T
|
rs1056912
|
0.00570
|
NM_001540.4(HSPB1):c.-46C>T
|
rs35907174
|
0.00569
|
NM_020631.6(PLEKHG5):c.*27T>C
|
rs117494970
|
0.00566
|
NM_021625.5(TRPV4):c.*423G>A
|
rs151286044
|
0.00565
|
NM_016955.4(SEPSECS):c.*454C>T
|
rs77936887
|
0.00552
|
NM_004960.4(FUS):c.*41G>A
|
rs80301724
|
0.00551
|
NM_003334.4(UBA1):c.2364C>T (p.Ala788=)
|
rs2228658
|
0.00548
|
NM_015046.7(SETX):c.5275-43T>C
|
rs144258500
|
0.00547
|
NM_021625.5(TRPV4):c.1153-10C>T
|
rs149541389
|
0.00547
|
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)
|
rs35078611
|
0.00542
|
NM_002180.3(IGHMBP2):c.1538-8C>G
|
rs115320302
|
0.00540
|
NM_018834.6(MATR3):c.*1087G>C
|
rs116660718
|
0.00535
|
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454
|
0.00531
|
NM_004738.5(VAPB):c.*1641G>A
|
rs116584680
|
0.00529
|
NM_001008212.2(OPTN):c.963C>T (p.Ser321=)
|
rs150381274
|
0.00525
|
NM_016955.4(SEPSECS):c.*2840T>C
|
rs144070806
|
0.00524
|
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly)
|
rs75430389
|
0.00523
|
NM_020631.6(PLEKHG5):c.-88+6328C>T
|
rs147378306
|
0.00522
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_004738.5(VAPB):c.*6619G>A
|
rs79091887
|
0.00520
|
NM_018325.5(C9orf72):c.*1469T>A
|
rs141012074
|
0.00519
|
NM_025137.4(SPG11):c.993C>T (p.Ser331=)
|
rs76823973
|
0.00519
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00517
|
NM_000454.5(SOD1):c.-48T>A
|
rs142752986
|
0.00516
|
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)
|
rs45559331
|
0.00516
|
NM_015046.7(SETX):c.-107C>T
|
rs190832998
|
0.00516
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_002047.4(GARS1):c.*67C>G
|
rs142498676
|
0.00506
|
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430
|
0.00506
|
NM_004960.3(FUS):c.*1148A>T
|
rs140326191
|
0.00506
|
NM_004960.3(FUS):c.*2443A>G
|
rs189787862
|
0.00503
|
NM_004738.5(VAPB):c.*995T>G
|
rs76895132
|
0.00501
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)
|
rs35110478
|
0.00499
|
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile)
|
rs77822399
|
0.00494
|
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)
|
rs116205032
|
0.00493
|
NM_001008212.2(OPTN):c.553-10G>A
|
rs11258210
|
0.00492
|
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)
|
rs767340839
|
0.00487
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859
|
0.00486
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_007126.5(VCP):c.*1001C>T
|
rs192556285
|
0.00482
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
NM_020631.5(PLEKHG5):c.*1052G>A
|
rs148036862
|
0.00467
|
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser)
|
rs146651455
|
0.00463
|
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)
|
rs55862001
|
0.00462
|
NM_014845.6(FIG4):c.66+10C>T
|
rs200063827
|
0.00462
|
NM_015046.7(SETX):c.*475A>C
|
rs60760878
|
0.00452
|
NM_015046.7(SETX):c.7287+207C>T
|
rs45490698
|
0.00451
|
NM_001003800.2(BICD2):c.2258+15G>C
|
rs140501870
|
0.00450
|
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn)
|
rs150218102
|
0.00449
|
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)
|
rs148560273
|
0.00443
|
NM_020631.6(PLEKHG5):c.440-6A>G
|
rs202049535
|
0.00443
|
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)
|
rs61754130
|
0.00437
|
NM_002047.2(GARS1):c.-177T>C
|
rs78980639
|
0.00437
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_018834.6(MATR3):c.*275C>T
|
rs187985845
|
0.00426
|
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=)
|
rs34658653
|
0.00420
|
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser)
|
rs200831077
|
0.00420
|
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)
|
rs62640003
|
0.00417
|
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)
|
rs12344006
|
0.00412
|
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092
|
0.00411
|
NM_018834.6(MATR3):c.*496C>T
|
rs140707719
|
0.00411
|
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)
|
rs139904931
|
0.00411
|
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu)
|
rs17560
|
0.00410
|
NM_014845.6(FIG4):c.*14C>T
|
rs114136062
|
0.00408
|
NM_002180.3(IGHMBP2):c.*425G>A
|
rs144205786
|
0.00401
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
0.00399
|
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=)
|
rs138997061
|
0.00398
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)
|
rs116012780
|
0.00392
|
NM_018834.6(MATR3):c.*747G>C
|
rs181792838
|
0.00392
|
NM_205836.3(FBXO38):c.593-13A>T
|
rs61555444
|
0.00390
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)
|
rs139687202
|
0.00369
|
NM_002047.2(GARS1):c.-280G>A
|
rs73294431
|
0.00364
|
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_004960.3(FUS):c.*214C>T
|
rs140875749
|
0.00361
|
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)
|
rs35815657
|
0.00358
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn)
|
rs144655617
|
0.00356
|
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=)
|
rs145177450
|
0.00356
|
NM_025137.4(SPG11):c.64A>G (p.Met22Val)
|
rs34255962
|
0.00354
|
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=)
|
rs141063383
|
0.00352
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_013254.4(TBK1):c.1761-11C>T
|
rs145696668
|
0.00344
|
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=)
|
rs34451610
|
0.00337
|
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)
|
rs77586767
|
0.00336
|
NM_018325.5(C9orf72):c.528T>C (p.Leu176=)
|
rs34608611
|
0.00334
|
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)
|
rs77134982
|
0.00334
|
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)
|
rs3219155
|
0.00334
|
NM_016042.4(EXOSC3):c.*881A>G
|
rs143319153
|
0.00332
|
NM_016106.4(SCFD1):c.209T>C (p.Ile70Thr)
|
rs61754480
|
0.00332
|
NM_021815.5(SLC5A7):c.826C>T (p.Leu276=)
|
rs78245030
|
0.00330
|
NM_018325.5(C9orf72):c.*837G>A
|
rs80172172
|
0.00329
|
NM_020919.4(ALS2):c.*1202C>T
|
rs41309068
|
0.00327
|
NM_004960.3(FUS):c.*1992A>C
|
rs146490489
|
0.00325
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_013254.4(TBK1):c.519G>A (p.Leu173=)
|
rs73313869
|
0.00315
|
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=)
|
rs142250604
|
0.00313
|
NM_007126.5(VCP):c.1360-14C>G
|
rs144304208
|
0.00311
|
NM_001540.4(HSPB1):c.-56C>T
|
rs35759978
|
0.00306
|
NM_004738.5(VAPB):c.*3118C>T
|
rs56310716
|
0.00306
|
NM_021625.5(TRPV4):c.*378G>C
|
rs538255561
|
0.00305
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_004738.5(VAPB):c.*467G>A
|
rs141496875
|
0.00301
|
NM_001540.5(HSPB1):c.*22C>T
|
rs557532119
|
0.00300
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00300
|
NM_016955.4(SEPSECS):c.*3402A>G
|
rs149506792
|
0.00300
|
NM_018834.6(MATR3):c.*313A>G
|
rs180806333
|
0.00300
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_007375.4(TARDBP):c.198T>C (p.Ala66=)
|
rs61730366
|
0.00292
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_020919.4(ALS2):c.2842-20C>T
|
rs189282198
|
0.00288
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)
|
rs75288720
|
0.00287
|
NM_004960.4(FUS):c.636C>T (p.Asp212=)
|
rs147528034
|
0.00282
|
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730
|
0.00280
|
NM_003900.5(SQSTM1):c.755-90dup
|
rs145727617
|
0.00280
|
NM_013254.4(TBK1):c.9C>T (p.Ser3=)
|
rs115692983
|
0.00280
|
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669
|
0.00275
|
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
0.00274
|
NM_004960.3(FUS):c.*1998T>C
|
rs182437252
|
0.00272
|
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln)
|
rs76603692
|
0.00272
|
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)
|
rs34781846
|
0.00272
|
NM_003334.4(UBA1):c.346-3C>A
|
rs149947901
|
0.00271
|
NM_007126.5(VCP):c.927C>T (p.Ile309=)
|
rs34097935
|
0.00270
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_000454.5(SOD1):c.*339C>T
|
rs17880487
|
0.00263
|
NM_021625.5(TRPV4):c.712+10C>T
|
rs115657305
|
0.00260
|
NM_001003800.2(BICD2):c.454-19T>C
|
rs114997314
|
0.00256
|
NM_205836.3(FBXO38):c.87T>C (p.Tyr29=)
|
rs77480566
|
0.00255
|
NM_004960.3(FUS):c.*2988C>T
|
rs73530301
|
0.00254
|
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln)
|
rs148382699
|
0.00253
|
NM_021815.5(SLC5A7):c.713A>G (p.Tyr238Cys)
|
rs142776152
|
0.00253
|
NM_007126.5(VCP):c.-267C>T
|
rs184152880
|
0.00252
|
NM_015046.7(SETX):c.*254C>T
|
rs11545230
|
0.00252
|
NM_000454.5(SOD1):c.*2C>T
|
rs1804447
|
0.00251
|
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=)
|
rs115689748
|
0.00250
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)
|
rs113615425
|
0.00247
|
NM_003334.4(UBA1):c.2595A>G (p.Ala865=)
|
rs139492208
|
0.00247
|
NM_004738.5(VAPB):c.*375C>G
|
rs540854828
|
0.00247
|
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)
|
rs61730399
|
0.00247
|
NM_013254.4(TBK1):c.1522C>A (p.Leu508Ile)
|
rs144424516
|
0.00245
|
NM_015046.7(SETX):c.*168C>T
|
rs115351494
|
0.00245
|
NM_002047.2(GARS1):c.-85C>A
|
rs777045330
|
0.00243
|
NM_003334.4(UBA1):c.1233+13G>A
|
rs141049438
|
0.00241
|
NM_014043.4(CHMP2B):c.*1255G>T
|
rs144167614
|
0.00241
|
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg)
|
rs143484278
|
0.00233
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
NM_000750.5(CHRNB4):c.1304C>T (p.Ala435Val)
|
rs56317523
|
0.00230
|
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)
|
rs141436407
|
0.00230
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu)
|
rs149718424
|
0.00229
|
NM_004738.5(VAPB):c.*4559A>G
|
rs73296848
|
0.00228
|
NM_001145809.2(MYH14):c.1329+15C>T
|
rs200176028
|
0.00227
|
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)
|
rs138183274
|
0.00227
|
NM_021625.5(TRPV4):c.1824+4C>T
|
rs147259744
|
0.00225
|
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)
|
rs143956614
|
0.00222
|
NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe)
|
rs2228205
|
0.00220
|
NM_018834.6(MATR3):c.*1394G>A
|
rs572983701
|
0.00217
|
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly)
|
rs149546633
|
0.00216
|
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=)
|
rs139061654
|
0.00215
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556
|
0.00213
|
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)
|
rs113958280
|
0.00210
|
NM_004738.5(VAPB):c.*5095T>G
|
rs143424619
|
0.00210
|
NM_005866.4(SIGMAR1):c.240G>A (p.Gln80=)
|
rs10972178
|
0.00210
|
NM_021625.5(TRPV4):c.*365C>T
|
rs184413363
|
0.00210
|
NM_004082.5(DCTN1):c.2761-18C>T
|
rs549475401
|
0.00209
|
NM_016042.4(EXOSC3):c.*64C>T
|
rs142727320
|
0.00209
|
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)
|
rs141032388
|
0.00209
|
NM_004738.5(VAPB):c.*4327A>G
|
rs183197400
|
0.00208
|
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)
|
rs541251697
|
0.00208
|
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)
|
rs121909192
|
0.00208
|
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
|
rs3219160
|
0.00208
|
NM_018325.5(C9orf72):c.*1214T>C
|
rs191690136
|
0.00205
|
NM_000454.5(SOD1):c.*153T>G
|
rs188029963
|
0.00203
|
NM_018325.5(C9orf72):c.*1058G>T
|
rs41272887
|
0.00203
|
NM_004960.4(FUS):c.273C>T (p.Tyr91=)
|
rs73530286
|
0.00196
|
NM_000940.3(PON3):c.94C>T (p.Arg32Ter)
|
rs147006695
|
0.00195
|
NM_004960.3(FUS):c.*687G>A
|
rs549602004
|
0.00193
|
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)
|
rs185933892
|
0.00191
|
NM_001376.5(DYNC1H1):c.10414-13G>A
|
rs17541421
|
0.00190
|
NM_004738.5(VAPB):c.*1773G>A
|
rs75999456
|
0.00188
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_020919.4(ALS2):c.3309T>C (p.His1103=)
|
rs201920363
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_001376.5(DYNC1H1):c.12513+10T>G
|
rs17512839
|
0.00183
|
NM_004738.5(VAPB):c.*2671A>G
|
rs115191022
|
0.00183
|
NM_004738.5(VAPB):c.*3968C>T
|
rs149967447
|
0.00183
|
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=)
|
rs150772386
|
0.00183
|
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)
|
rs35610053
|
0.00181
|
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met)
|
rs143763184
|
0.00179
|
NM_004960.4(FUS):c.675C>T (p.Gly225=)
|
rs140003720
|
0.00179
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
NM_015077.4(SARM1):c.1501T>C (p.Tyr501His)
|
rs144613221
|
0.00178
|
NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)
|
rs62640004
|
0.00177
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys)
|
rs139406455
|
0.00175
|
NM_016955.4(SEPSECS):c.*3870A>T
|
rs187861688
|
0.00175
|
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)
|
rs141818132
|
0.00175
|
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu)
|
rs113831637
|
0.00173
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_007126.5(VCP):c.*1040T>C
|
rs188935092
|
0.00171
|
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met)
|
rs112530241
|
0.00171
|
NM_021625.5(TRPV4):c.*230G>A
|
rs181542514
|
0.00171
|
NM_004738.5(VAPB):c.510G>A (p.Met170Ile)
|
rs143144050
|
0.00170
|
NM_007375.4(TARDBP):c.*1622A>T
|
rs551513393
|
0.00167
|
NM_002180.3(IGHMBP2):c.*175T>C
|
rs189725711
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=)
|
rs148209667
|
0.00165
|
NM_020631.6(PLEKHG5):c.592-14C>T
|
rs554879611
|
0.00165
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
NM_015046.7(SETX):c.*2506T>C
|
rs73545065
|
0.00164
|
NM_015046.7(SETX):c.*905A>G
|
rs58327306
|
0.00164
|
NM_020631.6(PLEKHG5):c.2162_2163insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu721fs)
|
rs1456598112
|
0.00164
|
NM_004738.5(VAPB):c.*2320T>A
|
rs181028077
|
0.00163
|
NM_004738.5(VAPB):c.*4072C>T
|
rs190652187
|
0.00163
|
NM_003334.4(UBA1):c.2004-13C>T
|
rs201794720
|
0.00162
|
NM_002180.3(IGHMBP2):c.*466G>A
|
rs542162905
|
0.00159
|
NM_015046.7(SETX):c.5781+10G>A
|
rs537414669
|
0.00159
|
NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=)
|
rs61732221
|
0.00158
|
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)
|
rs2228208
|
0.00157
|
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=)
|
rs150807400
|
0.00156
|
NM_013254.4(TBK1):c.1110C>T (p.Phe370=)
|
rs143590388
|
0.00155
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_002047.4(GARS1):c.*145C>A
|
rs904772533
|
0.00152
|
NM_007126.5(VCP):c.79A>G (p.Ile27Val)
|
rs140913250
|
0.00151
|
NM_014845.6(FIG4):c.-132A>G
|
rs548471516
|
0.00150
|
NM_001540.5(HSPB1):c.-19C>T
|
rs199602956
|
0.00149
|
NM_004082.5(DCTN1):c.*167C>T
|
rs142053202
|
0.00147
|
NM_213720.3(CHCHD10):c.41+7G>A
|
rs141526972
|
0.00147
|
NM_018325.5(C9orf72):c.288A>G (p.Ser96=)
|
rs147752518
|
0.00146
|
NM_007375.4(TARDBP):c.*1008T>G
|
rs141412238
|
0.00145
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_015046.7(SETX):c.*1800C>T
|
rs147200829
|
0.00144
|
NM_004738.5(VAPB):c.*3566A>T
|
rs114038495
|
0.00142
|
NM_015046.7(SETX):c.5548+19A>G
|
rs201294921
|
0.00141
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
NM_004738.5(VAPB):c.*1413C>G
|
rs190582293
|
0.00139
|
NM_001372574.1(ATXN2):c.-266C>T
|
rs536609944
|
0.00138
|
NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val)
|
rs72861528
|
0.00138
|
NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu)
|
rs59117380
|
0.00137
|
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)
|
rs140221316
|
0.00136
|
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr)
|
rs117505788
|
0.00136
|
NM_002180.3(IGHMBP2):c.-28C>A
|
rs117368938
|
0.00135
|
NM_205836.3(FBXO38):c.2341C>T (p.Pro781Ser)
|
rs116266000
|
0.00134
|
NM_014043.4(CHMP2B):c.35-7C>T
|
rs200912994
|
0.00133
|
NM_016042.4(EXOSC3):c.*555A>C
|
rs188744146
|
0.00133
|
NM_021815.5(SLC5A7):c.477G>A (p.Val159=)
|
rs143203868
|
0.00133
|
NM_001008212.2(OPTN):c.*1063C>A
|
rs530046832
|
0.00131
|
NM_015046.7(SETX):c.-70T>C
|
rs72765839
|
0.00131
|
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=)
|
rs78807992
|
0.00130
|
NM_004082.5(DCTN1):c.2649C>T (p.Ser883=)
|
rs140986485
|
0.00130
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_015046.7(SETX):c.6936-11A>G
|
rs146193654
|
0.00129
|
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)
|
rs139416105
|
0.00128
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
NM_004738.5(VAPB):c.*5790G>A
|
rs192046748
|
0.00126
|
NM_003334.4(UBA1):c.480+19C>G
|
rs200340536
|
0.00125
|
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)
|
rs114878910
|
0.00125
|
NM_001145.4(ANG):c.-383C>G
|
rs113950902
|
0.00124
|
NM_014043.4(CHMP2B):c.*1610C>T
|
rs191312397
|
0.00124
|
NM_004960.3(FUS):c.*2005G>T
|
rs140979886
|
0.00123
|
NM_004738.5(VAPB):c.*3274C>T
|
rs553170533
|
0.00122
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
NM_004738.5(VAPB):c.*6578T>G
|
rs115932469
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)
|
rs116719245
|
0.00120
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
NM_018834.6(MATR3):c.1347C>T (p.Ala449=)
|
rs141986556
|
0.00120
|
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)
|
rs146217031
|
0.00119
|
NM_001003800.2(BICD2):c.1806G>A (p.Thr602=)
|
rs138300993
|
0.00118
|
NM_001008212.2(OPTN):c.876G>A (p.Pro292=)
|
rs151065414
|
0.00118
|
NM_018325.5(C9orf72):c.*914A>G
|
rs561651779
|
0.00118
|
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe)
|
rs143876748
|
0.00118
|
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_001145809.2(MYH14):c.563-17C>A
|
rs201570558
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_004738.5(VAPB):c.316-17A>C
|
rs201335617
|
0.00115
|
NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly)
|
rs370872556
|
0.00115
|
NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys)
|
rs78319441
|
0.00113
|
NM_001003800.2(BICD2):c.240+8G>T
|
rs371559371
|
0.00113
|
NM_007126.5(VCP):c.1081+17C>T
|
rs200756991
|
0.00113
|
NM_007375.4(TARDBP):c.24C>T (p.Thr8=)
|
rs72870030
|
0.00112
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly)
|
rs143145331
|
0.00112
|
NM_199189.3(MATR3):c.-247C>T
|
rs141402332
|
0.00112
|
NM_020631.6(PLEKHG5):c.1818C>T (p.Phe606=)
|
rs149147021
|
0.00109
|
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)
|
rs113811959
|
0.00108
|
NM_001097577.3(ANG):c.*139A>G
|
rs542458460
|
0.00108
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_013254.4(TBK1):c.135C>T (p.Phe45=)
|
rs11538420
|
0.00108
|
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)
|
rs140202670
|
0.00108
|
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=)
|
rs141244183
|
0.00108
|
NM_020631.6(PLEKHG5):c.87G>A (p.Pro29=)
|
rs140892576
|
0.00107
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His)
|
rs199577696
|
0.00105
|
NM_018834.6(MATR3):c.*1767C>T
|
rs181125183
|
0.00104
|
NM_021625.5(TRPV4):c.*486T>C
|
rs79157363
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)
|
rs190369242
|
0.00100
|
NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly)
|
rs150309842
|
0.00099
|
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)
|
rs41308840
|
0.00099
|
NM_205836.3(FBXO38):c.3019C>A (p.Gln1007Lys)
|
rs112383068
|
0.00099
|
NM_002047.2(GARS1):c.-69T>A
|
rs527307703
|
0.00098
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
NM_004738.5(VAPB):c.*75G>A
|
rs138521885
|
0.00098
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)
|
rs185341934
|
0.00096
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_021815.5(SLC5A7):c.1237G>A (p.Val413Ile)
|
rs138945146
|
0.00096
|
NM_001008212.2(OPTN):c.779+20G>A
|
rs79733653
|
0.00095
|
NM_003334.4(UBA1):c.909+12G>A
|
rs367556596
|
0.00095
|
NM_004960.4(FUS):c.1566G>A (p.Arg522=)
|
rs138901914
|
0.00095
|
NM_004082.5(DCTN1):c.280-3C>T
|
rs114364621
|
0.00094
|
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)
|
rs201337011
|
0.00093
|
NM_004738.5(VAPB):c.*3822C>G
|
rs150825395
|
0.00093
|
NM_015046.7(SETX):c.2124T>C (p.Ser708=)
|
rs139236924
|
0.00093
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_018325.5(C9orf72):c.*174C>T
|
rs146530591
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)
|
rs121909536
|
0.00091
|
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=)
|
rs147954772
|
0.00091
|
NM_020631.6(PLEKHG5):c.2677G>A (p.Gly893Arg)
|
rs200407689
|
0.00091
|
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=)
|
rs111624565
|
0.00091
|
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)
|
rs59551486
|
0.00091
|
NM_205836.3(FBXO38):c.3547G>A (p.Val1183Ile)
|
rs143682696
|
0.00091
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
NM_001008212.2(OPTN):c.-250C>A
|
rs886046818
|
0.00088
|
NM_001122955.4(BSCL2):c.88-674G>T
|
rs549450153
|
0.00088
|
NM_003334.4(UBA1):c.117+9C>T
|
rs371344095
|
0.00088
|
NM_007126.5(VCP):c.*12C>T
|
rs62544156
|
0.00088
|
NM_013254.4(TBK1):c.1227C>T (p.Asp409=)
|
rs150609728
|
0.00088
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_001003800.2(BICD2):c.813C>T (p.Phe271=)
|
rs150389188
|
0.00086
|
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=)
|
rs142030960
|
0.00086
|
NM_014845.6(FIG4):c.1584-8T>A
|
rs199522051
|
0.00086
|
NM_177924.5(ASAH1):c.*103G>A
|
rs181616268
|
0.00086
|
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=)
|
rs11228414
|
0.00085
|
NM_003384.3(VRK1):c.286+12A>G
|
rs376603491
|
0.00085
|
NM_007375.4(TARDBP):c.544-17C>T
|
rs117557248
|
0.00085
|
NM_018325.5(C9orf72):c.*1024A>G
|
rs563194682
|
0.00084
|
NM_001003800.2(BICD2):c.240+20C>A
|
rs556051421
|
0.00083
|
NM_004738.5(VAPB):c.*3725T>C
|
rs574293455
|
0.00083
|
NM_004738.5(VAPB):c.*726A>G
|
rs560832981
|
0.00083
|
NM_005866.4(SIGMAR1):c.151+15G>A
|
rs368822102
|
0.00083
|
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser)
|
rs148402819
|
0.00083
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
NM_001008212.2(OPTN):c.*461G>A
|
rs541250740
|
0.00081
|
NM_004960.4(FUS):c.-47G>A
|
rs72550864
|
0.00081
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_014043.4(CHMP2B):c.*864G>A
|
rs181777395
|
0.00079
|
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)
|
rs138154934
|
0.00078
|
NM_001003800.2(BICD2):c.72C>G (p.Ala24=)
|
rs545512590
|
0.00078
|
NM_001145.4(ANG):c.-423C>T
|
rs149147430
|
0.00078
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
NM_021625.5(TRPV4):c.*190C>T
|
rs141636597
|
0.00077
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_004960.3(FUS):c.*335G>T
|
rs192206514
|
0.00076
|
NM_015046.7(SETX):c.717A>G (p.Leu239=)
|
rs147125311
|
0.00076
|
NM_015046.7(SETX):c.81C>T (p.Ser27=)
|
rs149229231
|
0.00076
|
NM_004960.4(FUS):c.1464C>T (p.Gly488=)
|
rs150529460
|
0.00075
|
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)
|
rs77984885
|
0.00075
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
NM_003900.5(SQSTM1):c.888G>A (p.Pro296=)
|
rs148984239
|
0.00073
|
NM_004738.5(VAPB):c.*2224C>T
|
rs189009703
|
0.00073
|
NM_007375.4(TARDBP):c.*343G>A
|
rs555353123
|
0.00073
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00073
|
NM_016955.4(SEPSECS):c.*610G>A
|
rs570766273
|
0.00073
|
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935
|
0.00072
|
NM_002180.3(IGHMBP2):c.1418+11C>T
|
rs201279838
|
0.00071
|
NM_004960.3(FUS):c.*721A>G
|
rs558776704
|
0.00071
|
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser)
|
rs145958900
|
0.00070
|
NM_018834.6(MATR3):c.*769G>A
|
rs561705958
|
0.00070
|
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)
|
rs138039591
|
0.00069
|
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
|
rs377637314
|
0.00068
|
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=)
|
rs147568068
|
0.00068
|
NM_003334.4(UBA1):c.648A>G (p.Pro216=)
|
rs146676571
|
0.00067
|
NM_004738.4(VAPB):c.-292G>C
|
rs2234484
|
0.00067
|
NM_006736.6(DNAJB2):c.717C>A (p.Thr239=)
|
rs146703240
|
0.00067
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_001003800.2(BICD2):c.1179T>A (p.Asn393Lys)
|
rs144427583
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_020631.6(PLEKHG5):c.*285C>T
|
rs572888702
|
0.00066
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
NM_004738.5(VAPB):c.*2766C>T
|
rs6128346
|
0.00064
|
NM_004738.5(VAPB):c.*2850T>C
|
rs777977641
|
0.00064
|
NM_006308.3(HSPB3):c.-89T>C
|
rs186550955
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_002047.4(GARS1):c.699C>T (p.Val233=)
|
rs187937286
|
0.00063
|
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)
|
rs139482113
|
0.00063
|
NM_016955.4(SEPSECS):c.*2990G>C
|
rs555513125
|
0.00063
|
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)
|
rs150549628
|
0.00062
|
NM_004738.5(VAPB):c.-137C>T
|
rs542349554
|
0.00062
|
NM_001003800.2(BICD2):c.2397C>T (p.Leu799=)
|
rs151133287
|
0.00061
|
NM_001008212.2(OPTN):c.1148+13A>G
|
rs368654623
|
0.00061
|
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys)
|
rs201493373
|
0.00061
|
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)
|
rs140654955
|
0.00061
|
NM_004082.5(DCTN1):c.1998G>A (p.Thr666=)
|
rs149900553
|
0.00061
|
NM_013254.4(TBK1):c.1189+10G>A
|
rs185457813
|
0.00061
|
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)
|
rs149583035
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)
|
rs150526992
|
0.00060
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
NM_004738.5(VAPB):c.*1347A>G
|
rs192710529
|
0.00059
|
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu)
|
rs146459055
|
0.00059
|
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)
|
rs200153024
|
0.00059
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
NM_001003800.2(BICD2):c.1348C>T (p.Arg450Cys)
|
rs201997144
|
0.00058
|
NM_004960.3(FUS):c.*561C>T
|
rs192705444
|
0.00058
|
NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser)
|
rs139382018
|
0.00058
|
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=)
|
rs140805390
|
0.00058
|
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_021625.5(TRPV4):c.549G>A (p.Glu183=)
|
rs141908793
|
0.00058
|
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)
|
rs139019255
|
0.00058
|
NM_001008212.2(OPTN):c.*1285T>C
|
rs560947786
|
0.00057
|
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)
|
rs148278350
|
0.00057
|
NM_018834.6(MATR3):c.*1757T>C
|
rs191196444
|
0.00057
|
NM_020631.6(PLEKHG5):c.-113C>A
|
rs190848227
|
0.00057
|
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)
|
rs200706696
|
0.00057
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
NM_004960.4(FUS):c.198T>C (p.Tyr66=)
|
rs144853447
|
0.00056
|
NM_004960.4(FUS):c.404G>A (p.Ser135Asn)
|
rs61732970
|
0.00056
|
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)
|
rs200202953
|
0.00056
|
NM_014043.4(CHMP2B):c.*1408A>G
|
rs183429826
|
0.00055
|
NM_003900.5(SQSTM1):c.969+20G>A
|
rs199696608
|
0.00054
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
NM_018325.5(C9orf72):c.*602A>G
|
rs567258799
|
0.00054
|
NM_020631.6(PLEKHG5):c.3011+9C>T
|
rs144809602
|
0.00054
|
NM_001003800.2(BICD2):c.979C>T (p.Pro327Ser)
|
rs147814238
|
0.00053
|
NM_001008212.2(OPTN):c.1612+10G>A
|
rs191671333
|
0.00053
|
NM_002047.2(GARS1):c.-237A>C
|
rs540431164
|
0.00053
|
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765
|
0.00053
|
NM_004738.5(VAPB):c.*3020A>G
|
rs570716807
|
0.00053
|
NM_007375.3(TARDBP):c.-110C>T
|
rs577981181
|
0.00053
|
NM_007375.4(TARDBP):c.*1081C>T
|
rs184303021
|
0.00053
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_199189.2(MATR3):c.-649C>T
|
rs779721416
|
0.00053
|
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)
|
rs75700262
|
0.00052
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_015046.7(SETX):c.4197A>G (p.Thr1399=)
|
rs148078248
|
0.00052
|
NM_000454.5(SOD1):c.357+9T>C
|
rs17886692
|
0.00051
|
NM_000454.5(SOD1):c.72+19G>A
|
rs201574089
|
0.00051
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala)
|
rs184147813
|
0.00051
|
NM_007375.4(TARDBP):c.*1623T>A
|
rs566657331
|
0.00051
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00051
|
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)
|
rs151046729
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_016955.4(SEPSECS):c.*223G>A
|
rs146860744
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu)
|
rs202245444
|
0.00050
|
NM_020631.6(PLEKHG5):c.1023G>A (p.Val341=)
|
rs199903533
|
0.00050
|
NM_025137.4(SPG11):c.7152-14_7152-10dup
|
rs566399432
|
0.00050
|
NM_002180.3(IGHMBP2):c.*6C>T
|
rs117995705
|
0.00049
|
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)
|
rs143986510
|
0.00049
|
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)
|
rs139091750
|
0.00049
|
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)
|
rs150268016
|
0.00049
|
NM_000052.7(ATP7A):c.3801+6T>C
|
rs181665434
|
0.00048
|
NM_003334.4(UBA1):c.39C>T (p.Ser13=)
|
rs141450062
|
0.00048
|
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)
|
rs140547520
|
0.00048
|
NM_014043.4(CHMP2B):c.*744C>A
|
rs185167991
|
0.00048
|
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)
|
rs139894940
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
NM_205836.3(FBXO38):c.2146A>G (p.Ser716Gly)
|
rs150893158
|
0.00048
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
NM_018834.6(MATR3):c.*2054T>A
|
rs116278472
|
0.00047
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)
|
rs181657861
|
0.00046
|
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=)
|
rs11548640
|
0.00046
|
NM_004082.5(DCTN1):c.279+8C>T
|
rs376401397
|
0.00046
|
NM_007375.4(TARDBP):c.*2154G>T
|
rs886045048
|
0.00046
|
NM_015046.7(SETX):c.*1803G>A
|
rs556145432
|
0.00046
|
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala)
|
rs142133435
|
0.00046
|
NM_020631.6(PLEKHG5):c.1801-14del
|
rs762416489
|
0.00046
|
NM_021815.5(SLC5A7):c.1113+9A>G
|
rs192964655
|
0.00046
|
NM_001008212.2(OPTN):c.147C>T (p.Thr49=)
|
rs187734249
|
0.00045
|
NM_003334.4(UBA1):c.1137C>T (p.Asp379=)
|
rs143935711
|
0.00045
|
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=)
|
rs376823275
|
0.00045
|
NM_001003800.2(BICD2):c.1050G>A (p.Gln350=)
|
rs368860496
|
0.00044
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp)
|
rs144681826
|
0.00044
|
NM_004738.5(VAPB):c.59-4A>G
|
rs193136039
|
0.00044
|
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile)
|
rs142117467
|
0.00044
|
NM_007126.5(VCP):c.*367G>A
|
rs768675930
|
0.00043
|
NM_016042.4(EXOSC3):c.123C>T (p.Asp41=)
|
rs147510873
|
0.00043
|
NM_018834.6(MATR3):c.*2200C>T
|
rs770043950
|
0.00043
|
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu)
|
rs115861965
|
0.00043
|
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=)
|
rs141295418
|
0.00043
|
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met)
|
rs570675468
|
0.00042
|
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg)
|
rs149577588
|
0.00041
|
NM_003334.4(UBA1):c.873C>T (p.Ile291=)
|
rs143062483
|
0.00041
|
NM_004738.5(VAPB):c.*1050G>A
|
rs551974797
|
0.00041
|
NM_004960.3(FUS):c.*3231T>C
|
rs193018950
|
0.00041
|
NM_015046.7(SETX):c.*1454C>G
|
rs561712582
|
0.00041
|
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys)
|
rs149276791
|
0.00041
|
NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=)
|
rs144859183
|
0.00041
|
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
0.00041
|
NM_020919.4(ALS2):c.*584G>A
|
rs577282089
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln)
|
rs200228117
|
0.00041
|
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=)
|
rs141414055
|
0.00040
|
NM_001003800.2(BICD2):c.2012C>T (p.Ala671Val)
|
rs200086216
|
0.00040
|
NM_001003800.2(BICD2):c.454-7C>G
|
rs186469385
|
0.00040
|
NM_004738.5(VAPB):c.*4862A>G
|
rs143395644
|
0.00040
|
NM_007126.5(VCP):c.832T>C (p.Leu278=)
|
rs200670526
|
0.00040
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
NM_004082.5(DCTN1):c.2334A>C (p.Thr778=)
|
rs144256653
|
0.00039
|
NM_004738.4(VAPB):c.-322G>C
|
rs746837253
|
0.00039
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
NM_015046.7(SETX):c.4916A>C (p.Gln1639Pro)
|
rs150918808
|
0.00039
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
NM_016042.4(EXOSC3):c.*954G>A
|
rs530895640
|
0.00039
|
NM_018325.5(C9orf72):c.*901T>C
|
rs774314112
|
0.00039
|
NM_205836.3(FBXO38):c.2889G>C (p.Lys963Asn)
|
rs371555180
|
0.00039
|
NM_000454.4(SOD1):c.-83T>C
|
rs377427683
|
0.00038
|
NM_001008212.2(OPTN):c.606G>A (p.Thr202=)
|
rs143437860
|
0.00038
|
NM_004082.5(DCTN1):c.3610-14C>T
|
rs757854575
|
0.00038
|
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu)
|
rs148615702
|
0.00038
|
NM_015046.7(SETX):c.638C>T (p.Ser213Phe)
|
rs1254442456
|
0.00038
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
NM_016042.4(EXOSC3):c.*795A>G
|
rs558579097
|
0.00038
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
NM_020919.4(ALS2):c.1641G>A (p.Arg547=)
|
rs34122078
|
0.00038
|
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg)
|
rs145142315
|
0.00038
|
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln)
|
rs201948434
|
0.00038
|
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)
|
rs371939448
|
0.00037
|
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)
|
rs201515738
|
0.00037
|
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp)
|
rs141873613
|
0.00037
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)
|
rs202097247
|
0.00037
|
NM_177924.5(ASAH1):c.1041+19C>A
|
rs17126194
|
0.00037
|
NC_000009.12:g.34638237A>T
|
rs148692127
|
0.00036
|
NM_000052.7(ATP7A):c.610+19A>G
|
rs367724628
|
0.00036
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
NM_001003800.2(BICD2):c.861C>T (p.Asp287=)
|
rs768173580
|
0.00036
|
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)
|
rs151018278
|
0.00036
|
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)
|
rs61731907
|
0.00036
|
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=)
|
rs143977783
|
0.00036
|
NM_004738.5(VAPB):c.*3001T>G
|
rs551260354
|
0.00036
|
NM_004738.5(VAPB):c.*596C>T
|
rs118055109
|
0.00036
|
NM_004960.4(FUS):c.336-19_336-18insG
|
rs146048051
|
0.00036
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_018325.5(C9orf72):c.1149+9T>C
|
rs139352974
|
0.00036
|
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)
|
rs201161419
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp)
|
rs532842754
|
0.00035
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_003334.4(UBA1):c.1242C>T (p.Ser414=)
|
rs369843264
|
0.00035
|
NM_007126.5(VCP):c.*700C>A
|
rs537730311
|
0.00035
|
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
NM_000454.5(SOD1):c.423T>A (p.Ala141=)
|
rs143100660
|
0.00034
|
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser)
|
rs144466778
|
0.00034
|
NM_003334.4(UBA1):c.176+13A>G
|
rs186890744
|
0.00034
|
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)
|
rs139372286
|
0.00034
|
NM_003900.5(SQSTM1):c.783C>T (p.His261=)
|
rs145001811
|
0.00034
|
NM_004082.5(DCTN1):c.*122A>C
|
rs777649011
|
0.00034
|
NM_004960.4(FUS):c.684C>T (p.Gly228=)
|
rs151073460
|
0.00034
|
NM_007375.4(TARDBP):c.239-15G>A
|
rs200066188
|
0.00034
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)
|
rs199921065
|
0.00034
|
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)
|
rs139589527
|
0.00034
|
NM_018834.6(MATR3):c.291A>G (p.Leu97=)
|
rs147239107
|
0.00034
|
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)
|
rs200641225
|
0.00034
|
NM_205836.3(FBXO38):c.1093+20A>C
|
rs140611091
|
0.00034
|
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His)
|
rs200088838
|
0.00033
|
NM_002180.3(IGHMBP2):c.*692A>G
|
rs188469352
|
0.00033
|
NM_002937.5(RNASE4):c.-18+11A>C
|
rs184963428
|
0.00033
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00033
|
NM_004960.4(FUS):c.188A>G (p.Asn63Ser)
|
rs140883211
|
0.00033
|
NM_005235.3(ERBB4):c.308G>A (p.Arg103His)
|
rs754487821
|
0.00033
|
NM_013254.4(TBK1):c.964C>T (p.His322Tyr)
|
rs145905497
|
0.00033
|
NM_016042.4(EXOSC3):c.-11T>C
|
rs373191549
|
0.00033
|
NM_018834.6(MATR3):c.1130-5T>A
|
rs188905656
|
0.00033
|
NM_018834.6(MATR3):c.1893C>T (p.Ser631=)
|
rs143527811
|
0.00033
|
NM_004960.4(FUS):c.47C>T (p.Ala16Val)
|
rs139980267
|
0.00032
|
NM_007126.5(VCP):c.2406T>C (p.Asp802=)
|
rs145508640
|
0.00032
|
NM_007375.4(TARDBP):c.*666G>A
|
rs778834503
|
0.00032
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_007375.4(TARDBP):c.*2773A>G
|
rs187380325
|
0.00031
|
NM_015046.7(SETX):c.2955G>A (p.Ser985=)
|
rs201251074
|
0.00031
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_003900.5(SQSTM1):c.946T>C (p.Leu316=)
|
rs140315612
|
0.00030
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_020631.6(PLEKHG5):c.2424G>A (p.Val808=)
|
rs151184761
|
0.00030
|
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr)
|
rs199785411
|
0.00030
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00029
|
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=)
|
rs140296831
|
0.00029
|
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=)
|
rs147409148
|
0.00029
|
NM_003384.3(VRK1):c.183A>C (p.Ser61=)
|
rs150196318
|
0.00029
|
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)
|
rs145056421
|
0.00029
|
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)
|
rs145130328
|
0.00029
|
NM_004082.5(DCTN1):c.3029+6G>T
|
rs754143116
|
0.00029
|
NM_004082.5(DCTN1):c.597G>A (p.Pro199=)
|
rs143607419
|
0.00029
|
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=)
|
rs148750997
|
0.00029
|
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)
|
rs189313287
|
0.00029
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_018834.6(MATR3):c.2494-6T>A
|
rs376395410
|
0.00029
|
NM_020631.5(PLEKHG5):c.*1289C>G
|
rs886046487
|
0.00029
|
NM_020631.6(PLEKHG5):c.1530C>T (p.Ala510=)
|
rs61734080
|
0.00029
|
NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln)
|
rs149682441
|
0.00029
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)
|
rs373796566
|
0.00029
|
NM_205836.3(FBXO38):c.504T>C (p.Phe168=)
|
rs377754520
|
0.00029
|
NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu)
|
rs564997204
|
0.00029
|
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=)
|
rs140838569
|
0.00028
|
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
|
rs146266992
|
0.00028
|
NM_003334.4(UBA1):c.132C>T (p.Asn44=)
|
rs368727585
|
0.00028
|
NM_004082.5(DCTN1):c.558G>A (p.Pro186=)
|
rs201078804
|
0.00028
|
NM_016955.4(SEPSECS):c.*1591G>A
|
rs751678209
|
0.00028
|
NM_018834.6(MATR3):c.1183-5G>A
|
rs369464069
|
0.00028
|
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=)
|
rs370666430
|
0.00028
|
NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His)
|
rs145649831
|
0.00028
|
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
|
rs370700841
|
0.00027
|
NM_004738.5(VAPB):c.*3315A>G
|
rs772298515
|
0.00027
|
NM_004738.5(VAPB):c.*5005T>A
|
rs146687585
|
0.00027
|
NM_015046.7(SETX):c.*1688A>G
|
rs773351268
|
0.00027
|
NM_018834.6(MATR3):c.1130-4A>G
|
rs371701183
|
0.00027
|
NM_018834.6(MATR3):c.1435-20G>A
|
rs75623350
|
0.00027
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
NM_000454.5(SOD1):c.195T>C (p.Phe65=)
|
rs147620646
|
0.00026
|
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)
|
rs149736203
|
0.00026
|
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln)
|
rs147038490
|
0.00026
|
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=)
|
rs200388590
|
0.00026
|
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)
|
rs143746604
|
0.00026
|
NM_004738.5(VAPB):c.*5769G>A
|
rs150490845
|
0.00026
|
NM_004738.5(VAPB):c.-166G>A
|
rs553588236
|
0.00026
|
NM_004960.3(FUS):c.*1034C>T
|
rs181164144
|
0.00026
|
NM_007375.4(TARDBP):c.*2333C>T
|
rs138320721
|
0.00026
|
NM_014365.2(HSPB8):c.-480C>G
|
rs886049024
|
0.00026
|
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)
|
rs369470593
|
0.00026
|
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly)
|
rs142134306
|
0.00026
|
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)
|
rs142917412
|
0.00026
|
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)
|
rs368182922
|
0.00026
|
NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu)
|
rs572530276
|
0.00026
|
NM_021625.5(TRPV4):c.501C>T (p.Asp167=)
|
rs77680510
|
0.00026
|
NM_021815.5(SLC5A7):c.1177A>G (p.Thr393Ala)
|
rs75427357
|
0.00026
|
NM_025137.4(SPG11):c.2445-20A>T
|
rs545137154
|
0.00026
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln)
|
rs782349186
|
0.00025
|
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
|
rs138327042
|
0.00025
|
NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr)
|
rs187589555
|
0.00025
|
NM_004738.5(VAPB):c.*3805G>C
|
rs561048421
|
0.00025
|
NM_004960.3(FUS):c.*1089G>A
|
rs184277413
|
0.00025
|
NM_015046.7(SETX):c.*891T>C
|
rs573743210
|
0.00025
|
NM_015046.7(SETX):c.6208+17G>A
|
rs182144319
|
0.00025
|
NM_018325.5(C9orf72):c.*317A>G
|
rs886063839
|
0.00025
|
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg)
|
rs201241092
|
0.00025
|
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu)
|
rs375363608
|
0.00025
|
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val)
|
rs147962000
|
0.00025
|
NM_205836.3(FBXO38):c.2985C>T (p.Pro995=)
|
rs144172824
|
0.00025
|
NM_205836.3(FBXO38):c.3393T>C (p.Thr1131=)
|
rs148901341
|
0.00025
|
NM_213720.3(CHCHD10):c.409+1G>A
|
rs367684804
|
0.00025
|
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
|
rs781786942
|
0.00024
|
NM_001003800.2(BICD2):c.1842A>G (p.Pro614=)
|
rs200912578
|
0.00024
|
NM_001003800.2(BICD2):c.2259-19A>G
|
rs199833926
|
0.00024
|
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=)
|
rs138532996
|
0.00024
|
NM_001256054.3(C9orf72):c.-115A>C
|
rs183102304
|
0.00024
|
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg)
|
rs145266399
|
0.00024
|
NM_001540.5(HSPB1):c.24C>T (p.Phe8=)
|
rs201769668
|
0.00024
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850
|
0.00024
|
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr)
|
rs149478641
|
0.00024
|
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala)
|
rs72466493
|
0.00024
|
NM_004738.5(VAPB):c.*5283C>T
|
rs747799775
|
0.00024
|
NM_004960.3(FUS):c.*1451A>G
|
rs960906406
|
0.00024
|
NM_004960.4(FUS):c.764+12A>C
|
rs143916861
|
0.00024
|
NM_007126.5(VCP):c.1482+18A>G
|
rs370501665
|
0.00024
|
NM_007126.5(VCP):c.924C>T (p.Ala308=)
|
rs199504528
|
0.00024
|
NM_007375.4(TARDBP):c.*2740G>A
|
rs566658679
|
0.00024
|
NM_013254.4(TBK1):c.812G>A (p.Arg271Gln)
|
rs56196591
|
0.00024
|
NM_014043.4(CHMP2B):c.*1647A>G
|
rs534772903
|
0.00024
|
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)
|
rs115071007
|
0.00024
|
NM_020631.6(PLEKHG5):c.2070T>C (p.Arg690=)
|
rs141100808
|
0.00024
|
NM_021815.5(SLC5A7):c.1299T>C (p.Tyr433=)
|
rs144772225
|
0.00024
|
NM_025137.4(SPG11):c.1457-20A>C
|
rs376343587
|
0.00024
|
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys)
|
rs148976489
|
0.00024
|
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)
|
rs147314661
|
0.00023
|
NM_003334.4(UBA1):c.1296C>T (p.Leu432=)
|
rs147825775
|
0.00023
|
NM_003334.4(UBA1):c.2793G>T (p.Leu931=)
|
rs782340410
|
0.00023
|
NM_003900.5(SQSTM1):c.674-17C>T
|
rs372845160
|
0.00023
|
NM_004082.5(DCTN1):c.1095G>A (p.Glu365=)
|
rs115088049
|
0.00023
|
NM_004738.5(VAPB):c.*2592G>A
|
rs143902869
|
0.00023
|
NM_004738.5(VAPB):c.*3764C>T
|
rs376626781
|
0.00023
|
NM_004738.5(VAPB):c.105G>A (p.Pro35=)
|
rs141383583
|
0.00023
|
NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys)
|
rs147724326
|
0.00023
|
NM_007126.5(VCP):c.-250C>T
|
rs886063894
|
0.00023
|
NM_021815.5(SLC5A7):c.293-18C>G
|
rs200631097
|
0.00023
|
NM_205836.3(FBXO38):c.456A>G (p.Val152=)
|
rs146162318
|
0.00023
|
NM_000052.7(ATP7A):c.177A>G (p.Pro59=)
|
rs142463642
|
0.00022
|
NM_000454.5(SOD1):c.239+6A>C
|
rs374610141
|
0.00022
|
NM_001003800.2(BICD2):c.1069C>T (p.Arg357Trp)
|
rs202119238
|
0.00022
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429
|
0.00022
|
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu)
|
rs141903179
|
0.00022
|
NM_004738.5(VAPB):c.*1800A>G
|
rs564187580
|
0.00022
|
NM_004738.5(VAPB):c.*6404C>T
|
rs774485714
|
0.00022
|
NM_004738.5(VAPB):c.528G>A (p.Leu176=)
|
rs199921117
|
0.00022
|
NM_004960.4(FUS):c.1080C>T (p.Ser360=)
|
rs190724342
|
0.00022
|
NM_004960.4(FUS):c.646C>T (p.Arg216Cys)
|
rs267606832
|
0.00022
|
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)
|
rs80356715
|
0.00022
|
NM_014365.3(HSPB8):c.-201G>T
|
rs764259720
|
0.00022
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_015046.7(SETX):c.*2384T>A
|
rs570456500
|
0.00022
|
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala)
|
rs138195434
|
0.00022
|
NM_016042.4(EXOSC3):c.*847T>A
|
rs566642894
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_016955.4(SEPSECS):c.*253A>G
|
rs75428345
|
0.00022
|
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys)
|
rs781050726
|
0.00022
|
NM_021625.5(TRPV4):c.*99C>T
|
rs552478250
|
0.00022
|
NM_177924.5(ASAH1):c.308G>C (p.Gly103Ala)
|
rs144169068
|
0.00022
|
NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser)
|
rs200091763
|
0.00021
|
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=)
|
rs370850999
|
0.00021
|
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)
|
rs1420939606
|
0.00021
|
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu)
|
rs201795943
|
0.00021
|
NM_004738.5(VAPB):c.*3643G>C
|
rs554314719
|
0.00021
|
NM_004738.5(VAPB):c.492C>T (p.Thr164=)
|
rs139884809
|
0.00021
|
NM_007375.4(TARDBP):c.*670T>C
|
rs745611651
|
0.00021
|
NM_013254.4(TBK1):c.1176A>G (p.Leu392=)
|
rs141806113
|
0.00021
|
NM_014365.2(HSPB8):c.-457A>G
|
rs564088535
|
0.00021
|
NM_014365.3(HSPB8):c.*788C>T
|
rs975396136
|
0.00021
|
NM_015046.7(SETX):c.*988G>A
|
rs182693244
|
0.00021
|
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)
|
rs200614765
|
0.00021
|
NM_015046.7(SETX):c.1392A>G (p.Ser464=)
|
rs144164119
|
0.00021
|
NM_015046.7(SETX):c.900T>C (p.Leu300=)
|
rs147938250
|
0.00021
|
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp)
|
rs201178873
|
0.00021
|
NM_018325.5(C9orf72):c.*122G>A
|
rs549202876
|
0.00021
|
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)
|
rs140687324
|
0.00021
|
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr)
|
rs140817021
|
0.00021
|
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser)
|
rs199757764
|
0.00021
|
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr)
|
rs372658867
|
0.00021
|
NM_205836.3(FBXO38):c.2200G>A (p.Gly734Ser)
|
rs140445029
|
0.00021
|
NM_205836.3(FBXO38):c.3379G>A (p.Asp1127Asn)
|
rs145662452
|
0.00021
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
|
rs61053012
|
0.00020
|
NM_001003800.2(BICD2):c.1192C>T (p.Arg398Trp)
|
rs189266003
|
0.00020
|
NM_001097577.3(ANG):c.3G>A (p.Met1Ile)
|
rs201068740
|
0.00020
|
NM_001145.4(ANG):c.-524G>A
|
rs886050395
|
0.00020
|
NM_003334.4(UBA1):c.1049G>A (p.Arg350His)
|
rs5906354
|
0.00020
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_004082.5(DCTN1):c.2605C>T (p.Leu869=)
|
rs148511573
|
0.00020
|
NM_004082.5(DCTN1):c.837G>A (p.Ala279=)
|
rs72466489
|
0.00020
|
NM_004738.5(VAPB):c.*2012G>A
|
rs1000867664
|
0.00020
|
NM_004738.5(VAPB):c.573+18G>A
|
rs201884956
|
0.00020
|
NM_006308.3(HSPB3):c.321C>T (p.His107=)
|
rs367560285
|
0.00020
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_021625.5(TRPV4):c.*500C>T
|
rs929739314
|
0.00020
|
NM_021625.5(TRPV4):c.1584+13C>T
|
rs199712027
|
0.00020
|
NM_021815.5(SLC5A7):c.1645C>A (p.Gln549Lys)
|
rs1280034815
|
0.00020
|
NM_205836.3(FBXO38):c.1958A>G (p.Asn653Ser)
|
rs140204686
|
0.00020
|
NM_205836.3(FBXO38):c.702A>G (p.Leu234=)
|
rs144011381
|
0.00020
|
NM_001077446.4(TSEN34):c.468G>C (p.Ser156=)
|
rs376153530
|
0.00019
|
NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp)
|
rs769536524
|
0.00019
|
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)
|
rs140208002
|
0.00019
|
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
|
rs149496322
|
0.00019
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_002180.3(IGHMBP2):c.*117G>A
|
rs745828352
|
0.00019
|
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His)
|
rs201640213
|
0.00019
|
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=)
|
rs139065967
|
0.00019
|
NM_002180.3(IGHMBP2):c.366C>T (p.His122=)
|
rs144401213
|
0.00019
|
NM_003334.4(UBA1):c.2733G>A (p.Lys911=)
|
rs149284493
|
0.00019
|
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)
|
rs199931327
|
0.00019
|
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)
|
rs140066692
|
0.00019
|
NM_007375.4(TARDBP):c.*214T>C
|
rs557787340
|
0.00019
|
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)
|
rs148325203
|
0.00019
|
NM_015046.7(SETX):c.1464C>T (p.Ala488=)
|
rs139275155
|
0.00019
|
NM_015046.7(SETX):c.3297T>C (p.Asp1099=)
|
rs777404209
|
0.00019
|
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)
|
rs200507089
|
0.00019
|
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)
|
rs143798689
|
0.00019
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00019
|
NM_016955.4(SEPSECS):c.*3234T>A
|
rs551637494
|
0.00019
|
NM_018325.5(C9orf72):c.462C>T (p.Val154=)
|
rs188263738
|
0.00019
|
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr)
|
rs148487997
|
0.00019
|
NM_020631.5(PLEKHG5):c.*1186A>G
|
rs540290288
|
0.00019
|
NM_020631.6(PLEKHG5):c.1783G>C (p.Glu595Gln)
|
rs140597591
|
0.00019
|
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys)
|
rs150666859
|
0.00019
|
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)
|
rs202036871
|
0.00019
|
NM_025137.4(SPG11):c.2897G>A (p.Arg966His)
|
rs200281262
|
0.00019
|
NM_177924.5(ASAH1):c.718A>C (p.Ile240Leu)
|
rs374187681
|
0.00019
|
NM_205836.3(FBXO38):c.1861C>T (p.Arg621Cys)
|
rs146121161
|
0.00019
|
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)
|
rs201225704
|
0.00018
|
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000
|
0.00018
|
NM_003334.4(UBA1):c.2878G>T (p.Val960Leu)
|
rs186224021
|
0.00018
|
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=)
|
rs150470670
|
0.00018
|
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly)
|
rs545080321
|
0.00018
|
NM_004082.5(DCTN1):c.3029+19G>A
|
rs201665169
|
0.00018
|
NM_007126.5(VCP):c.954C>T (p.Gly318=)
|
rs377316335
|
0.00018
|
NM_013254.4(TBK1):c.1865A>G (p.Lys622Arg)
|
rs199605037
|
0.00018
|
NM_013254.4(TBK1):c.916C>A (p.Leu306Ile)
|
rs201970436
|
0.00018
|
NM_020631.6(PLEKHG5):c.639G>A (p.Ala213=)
|
rs560366406
|
0.00018
|
NM_001003800.2(BICD2):c.1044G>A (p.Leu348=)
|
rs77530912
|
0.00017
|
NM_001008212.2(OPTN):c.*1385T>C
|
rs546352206
|
0.00017
|
NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp)
|
rs768231851
|
0.00017
|
NM_003334.4(UBA1):c.904A>G (p.Ser302Gly)
|
rs200541240
|
0.00017
|
NM_007126.5(VCP):c.2193C>T (p.Ile731=)
|
rs186657793
|
0.00017
|
NM_015046.7(SETX):c.-123C>A
|
rs184570956
|
0.00017
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=)
|
rs367560509
|
0.00017
|
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met)
|
rs148535388
|
0.00017
|
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)
|
rs371716779
|
0.00017
|
NM_205836.3(FBXO38):c.2903C>G (p.Pro968Arg)
|
rs141168806
|
0.00017
|
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)
|
rs377714939
|
0.00016
|
NM_001003800.2(BICD2):c.1539C>T (p.Ala513=)
|
rs369575401
|
0.00016
|
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)
|
rs370926100
|
0.00016
|
NM_001761.3(CCNF):c.419G>A (p.Arg140Gln)
|
rs371783851
|
0.00016
|
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe)
|
rs149045005
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_003334.4(UBA1):c.346-10A>C
|
rs782089237
|
0.00016
|
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg)
|
rs146180431
|
0.00016
|
NM_003384.3(VRK1):c.216+8A>G
|
rs369680885
|
0.00016
|
NM_003384.3(VRK1):c.710-13C>T
|
rs374386994
|
0.00016
|
NM_003384.3(VRK1):c.810T>C (p.Tyr270=)
|
rs943810223
|
0.00016
|
NM_003384.3(VRK1):c.906C>T (p.Tyr302=)
|
rs528346065
|
0.00016
|
NM_004082.5(DCTN1):c.2019C>T (p.Ala673=)
|
rs372482596
|
0.00016
|
NM_004082.5(DCTN1):c.570G>A (p.Pro190=)
|
rs528908728
|
0.00016
|
NM_004738.5(VAPB):c.574-4G>A
|
rs201798741
|
0.00016
|
NM_004960.3(FUS):c.*1286C>G
|
rs547623704
|
0.00016
|
NM_004960.3(FUS):c.*2299A>C
|
rs774311328
|
0.00016
|
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)
|
rs186547381
|
0.00016
|
NM_006736.6(DNAJB2):c.65+15A>T
|
rs140751061
|
0.00016
|
NM_007126.5(VCP):c.210C>T (p.Ile70=)
|
rs151222857
|
0.00016
|
NM_007375.4(TARDBP):c.*2823T>C
|
rs961126665
|
0.00016
|
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=)
|
rs143178463
|
0.00016
|
NM_014365.3(HSPB8):c.*648A>G
|
rs770364674
|
0.00016
|
NM_014845.6(FIG4):c.-138T>C
|
rs550585093
|
0.00016
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00016
|
NM_015046.7(SETX):c.498+14T>C
|
rs753336459
|
0.00016
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
NM_020631.6(PLEKHG5):c.1302C>T (p.Pro434=)
|
rs755428930
|
0.00016
|
NM_020631.6(PLEKHG5):c.2614C>T (p.His872Tyr)
|
rs372143370
|
0.00016
|
NM_020631.6(PLEKHG5):c.783C>T (p.Ser261=)
|
rs61738905
|
0.00016
|
NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu)
|
rs143585428
|
0.00016
|
NM_020919.4(ALS2):c.*1538C>G
|
rs868173236
|
0.00016
|
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)
|
rs142749412
|
0.00016
|
NM_021625.5(TRPV4):c.1658+15C>T
|
rs200083069
|
0.00016
|
NM_021815.5(SLC5A7):c.486C>T (p.His162=)
|
rs369362436
|
0.00016
|
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)
|
rs747973076
|
0.00016
|
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)
|
rs150823040
|
0.00016
|
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)
|
rs199920965
|
0.00016
|
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln)
|
rs201721414
|
0.00016
|
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)
|
rs146109825
|
0.00016
|
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)
|
rs775332895
|
0.00016
|
NM_213720.3(CHCHD10):c.262-5C>T
|
rs750056280
|
0.00016
|
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)
|
rs189353691
|
0.00015
|
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu)
|
rs149576827
|
0.00015
|
NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys)
|
rs200114679
|
0.00015
|
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser)
|
rs200152247
|
0.00015
|
NM_004738.5(VAPB):c.*3738A>C
|
rs766693591
|
0.00015
|
NM_004960.3(FUS):c.*1834A>G
|
rs758999415
|
0.00015
|
NM_004960.4(FUS):c.132C>T (p.Ser44=)
|
rs72550883
|
0.00015
|
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)
|
rs144370662
|
0.00015
|
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)
|
rs149380040
|
0.00015
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00015
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00015
|
NM_015046.7(SETX):c.7288-19C>T
|
rs368143983
|
0.00015
|
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val)
|
rs199797401
|
0.00015
|
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)
|
rs201165929
|
0.00015
|
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val)
|
rs370515061
|
0.00015
|
NM_020631.6(PLEKHG5):c.984+11G>A
|
rs369478125
|
0.00015
|
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=)
|
rs200417604
|
0.00015
|
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)
|
rs144403346
|
0.00015
|
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)
|
rs141011688
|
0.00015
|
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp)
|
rs147165460
|
0.00015
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
NM_000052.7(ATP7A):c.3153C>T (p.His1051=)
|
rs142998552
|
0.00014
|
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser)
|
rs368899583
|
0.00014
|
NM_001003800.2(BICD2):c.1250A>G (p.Asp417Gly)
|
rs55658812
|
0.00014
|
NM_001003800.2(BICD2):c.14C>T (p.Ser5Leu)
|
rs769376640
|
0.00014
|
NM_001003800.2(BICD2):c.2544G>A (p.Glu848=)
|
rs533026038
|
0.00014
|
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)
|
rs140599944
|
0.00014
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
NM_002047.2(GARS1):c.-80C>T
|
rs886062270
|
0.00014
|
NM_002180.3(IGHMBP2):c.*465C>T
|
rs770309885
|
0.00014
|
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=)
|
rs745534850
|
0.00014
|
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys)
|
rs192806153
|
0.00014
|
NM_002180.3(IGHMBP2):c.2612-16C>T
|
rs200337900
|
0.00014
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg)
|
rs376802604
|
0.00014
|
NM_004082.5(DCTN1):c.3003C>T (p.Thr1001=)
|
rs376031920
|
0.00014
|
NM_004738.5(VAPB):c.*1335C>T
|
rs187441988
|
0.00014
|
NM_004738.5(VAPB):c.*3192T>C
|
rs545089397
|
0.00014
|
NM_004960.3(FUS):c.*1750C>T
|
rs191806441
|
0.00014
|
NM_004960.4(FUS):c.*48G>A
|
rs376510148
|
0.00014
|
NM_004960.4(FUS):c.1067-6C>T
|
rs77813265
|
0.00014
|
NM_004960.4(FUS):c.687T>C (p.Gly229=)
|
rs781445592
|
0.00014
|
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)
|
rs139801016
|
0.00014
|
NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val)
|
rs367968662
|
0.00014
|
NM_013254.4(TBK1):c.1659A>C (p.Gln553His)
|
rs772256797
|
0.00014
|
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)
|
rs192188850
|
0.00014
|
NM_014365.3(HSPB8):c.-314T>C
|
rs754447057
|
0.00014
|
NM_015046.7(SETX):c.390C>T (p.Asn130=)
|
rs138363625
|
0.00014
|
NM_016955.4(SEPSECS):c.*1122C>T
|
rs770577255
|
0.00014
|
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=)
|
rs77226826
|
0.00014
|
NM_016955.4(SEPSECS):c.548-1G>A
|
rs200041461
|
0.00014
|
NM_016955.4(SEPSECS):c.84T>C (p.His28=)
|
rs532571185
|
0.00014
|
NM_018834.6(MATR3):c.1377G>A (p.Ala459=)
|
rs147356202
|
0.00014
|
NM_018834.6(MATR3):c.2283C>T (p.Asn761=)
|
rs189752689
|
0.00014
|
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro)
|
rs187886272
|
0.00014
|
NM_020919.4(ALS2):c.*504G>A
|
rs183326117
|
0.00014
|
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile)
|
rs773393717
|
0.00014
|
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)
|
rs182080501
|
0.00014
|
NM_205836.3(FBXO38):c.1862G>A (p.Arg621His)
|
rs199901955
|
0.00014
|
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys)
|
rs377207901
|
0.00014
|
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=)
|
rs141535376
|
0.00013
|
NM_001003800.2(BICD2):c.1127C>T (p.Thr376Met)
|
rs200325192
|
0.00013
|
NM_001003800.2(BICD2):c.1453G>T (p.Val485Phe)
|
rs199519253
|
0.00013
|
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)
|
rs149412531
|
0.00013
|
NM_002180.3(IGHMBP2):c.*860G>A
|
rs149898985
|
0.00013
|
NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg)
|
rs146450269
|
0.00013
|
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
|
rs374632016
|
0.00013
|
NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=)
|
rs1457468543
|
0.00013
|
NM_003334.4(UBA1):c.1149C>T (p.Ile383=)
|
rs782140742
|
0.00013
|
NM_004082.5(DCTN1):c.*49G>A
|
rs368049781
|
0.00013
|
NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr)
|
rs376564889
|
0.00013
|
NM_004082.5(DCTN1):c.2990G>A (p.Arg997Gln)
|
rs200580530
|
0.00013
|
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His)
|
rs776489779
|
0.00013
|
NM_004082.5(DCTN1):c.3345+13C>T
|
rs376707439
|
0.00013
|
NM_004738.4(VAPB):c.-283A>C
|
rs886056804
|
0.00013
|
NM_004738.5(VAPB):c.*5851C>A
|
rs772661395
|
0.00013
|
NM_005866.4(SIGMAR1):c.294C>T (p.Ala98=)
|
rs566645946
|
0.00013
|
NM_007126.5(VCP):c.*347C>T
|
rs886063888
|
0.00013
|
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)
|
rs138886714
|
0.00013
|
NM_014845.6(FIG4):c.-84A>G
|
rs764845399
|
0.00013
|
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)
|
rs540674198
|
0.00013
|
NM_015046.7(SETX):c.3555G>A (p.Gln1185=)
|
rs762171056
|
0.00013
|
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
|
rs11243731
|
0.00013
|
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)
|
rs61735488
|
0.00013
|
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile)
|
rs370366576
|
0.00013
|
NM_018325.5(C9orf72):c.*32A>C
|
rs759595881
|
0.00013
|
NM_020631.6(PLEKHG5):c.1681-8G>C
|
rs139041955
|
0.00013
|
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys)
|
rs760122001
|
0.00013
|
NM_020631.6(PLEKHG5):c.43+20G>T
|
rs200779049
|
0.00013
|
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=)
|
rs556027390
|
0.00013
|
NM_020919.4(ALS2):c.396G>A (p.Pro132=)
|
rs374978798
|
0.00013
|
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr)
|
rs144012151
|
0.00013
|
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met)
|
rs149523862
|
0.00012
|
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)
|
rs374162669
|
0.00012
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)
|
rs185917115
|
0.00012
|
NM_001003800.2(BICD2):c.1823C>T (p.Ser608Leu)
|
rs150861652
|
0.00012
|
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys)
|
rs556541366
|
0.00012
|
NM_002180.3(IGHMBP2):c.1784G>A (p.Arg595Gln)
|
rs143766075
|
0.00012
|
NM_003334.4(UBA1):c.2842T>G (p.Tyr948Asp)
|
rs781929195
|
0.00012
|
NM_003334.4(UBA1):c.2979C>T (p.Gly993=)
|
rs145283250
|
0.00012
|
NM_003334.4(UBA1):c.753A>G (p.Ser251=)
|
rs141505579
|
0.00012
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val)
|
rs201239306
|
0.00012
|
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)
|
rs370970067
|
0.00012
|
NM_004082.5(DCTN1):c.1480G>A (p.Ala494Thr)
|
rs113980038
|
0.00012
|
NM_004082.5(DCTN1):c.2015+3A>G
|
rs200057343
|
0.00012
|
NM_004082.5(DCTN1):c.3501C>T (p.His1167=)
|
rs569997015
|
0.00012
|
NM_004960.3(FUS):c.*1581T>C
|
rs751331525
|
0.00012
|
NM_004960.4(FUS):c.543A>G (p.Gln181=)
|
rs865823605
|
0.00012
|
NM_005866.4(SIGMAR1):c.510G>A (p.Met170Ile)
|
rs1336386973
|
0.00012
|
NM_006736.6(DNAJB2):c.230-2A>G
|
rs369661561
|
0.00012
|
NM_013254.4(TBK1):c.108T>C (p.Ala36=)
|
rs202056661
|
0.00012
|
NM_014043.4(CHMP2B):c.*836T>C
|
rs189927047
|
0.00012
|
NM_014845.6(FIG4):c.1271+5A>G
|
rs374583399
|
0.00012
|
NM_015046.7(SETX):c.*2016G>A
|
rs752950104
|
0.00012
|
NM_015046.7(SETX):c.3505A>G (p.Met1169Val)
|
rs573849874
|
0.00012
|
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)
|
rs781275166
|
0.00012
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
NM_015046.7(SETX):c.7990C>T (p.Leu2664=)
|
rs200826214
|
0.00012
|
NM_016955.4(SEPSECS):c.*1614T>C
|
rs151120379
|
0.00012
|
NM_016955.4(SEPSECS):c.*328A>T
|
rs796305783
|
0.00012
|
NM_018325.5(C9orf72):c.682T>C (p.Leu228=)
|
rs147034723
|
0.00012
|
NM_020631.6(PLEKHG5):c.2201C>T (p.Ser734Phe)
|
rs554772993
|
0.00012
|
NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=)
|
rs373880458
|
0.00012
|
NM_020631.6(PLEKHG5):c.414C>T (p.Phe138=)
|
rs375075005
|
0.00012
|
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr)
|
rs746862312
|
0.00012
|
NM_025137.4(SPG11):c.256C>G (p.His86Asp)
|
rs773123413
|
0.00012
|
NM_205836.3(FBXO38):c.2736C>T (p.Ile912=)
|
rs142105545
|
0.00012
|
NM_205836.3(FBXO38):c.510T>C (p.Asn170=)
|
rs760368532
|
0.00012
|
NM_213720.3(CHCHD10):c.378C>T (p.Ser126=)
|
rs199579266
|
0.00012
|
NM_000052.7(ATP7A):c.3659-12C>T
|
rs1012193744
|
0.00011
|
NM_000454.5(SOD1):c.*317T>C
|
rs191345676
|
0.00011
|
NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr)
|
rs140188204
|
0.00011
|
NM_001003800.2(BICD2):c.1620C>T (p.His540=)
|
rs375331979
|
0.00011
|
NM_001003800.2(BICD2):c.1680C>T (p.Gly560=)
|
rs371748461
|
0.00011
|
NM_001003800.2(BICD2):c.1692C>T (p.Ala564=)
|
rs199944412
|
0.00011
|
NM_001003800.2(BICD2):c.1716C>A (p.Arg572=)
|
rs375060340
|
0.00011
|
NM_001003800.2(BICD2):c.1802G>A (p.Gly601Glu)
|
rs573487238
|
0.00011
|
NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys)
|
rs766087023
|
0.00011
|
NM_001008212.2(OPTN):c.779+10A>G
|
rs200899194
|
0.00011
|
NM_001122955.4(BSCL2):c.1234+7G>A
|
rs200631909
|
0.00011
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp)
|
rs397516629
|
0.00011
|
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231
|
0.00011
|
NM_002180.3(IGHMBP2):c.1060+10C>T
|
rs200170825
|
0.00011
|
NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=)
|
rs145314949
|
0.00011
|
NM_002180.3(IGHMBP2):c.2612-14C>T
|
rs200940488
|
0.00011
|
NM_003334.4(UBA1):c.812-4G>A
|
rs372842152
|
0.00011
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=)
|
rs374985304
|
0.00011
|
NM_004082.5(DCTN1):c.*251T>G
|
rs756362040
|
0.00011
|
NM_004082.5(DCTN1):c.2588T>C (p.Val863Ala)
|
rs150798076
|
0.00011
|
NM_004082.5(DCTN1):c.2967G>A (p.Glu989=)
|
rs372554051
|
0.00011
|
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly)
|
rs187434401
|
0.00011
|
NM_004738.5(VAPB):c.*2748A>C
|
rs368079533
|
0.00011
|
NM_004738.5(VAPB):c.174C>T (p.Ser58=)
|
rs139149560
|
0.00011
|
NM_004960.3(FUS):c.*2851T>C
|
rs745882198
|
0.00011
|
NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys)
|
rs144311212
|
0.00011
|
NM_007126.5(VCP):c.*382C>T
|
rs749381324
|
0.00011
|
NM_007126.5(VCP):c.-215A>G
|
rs886063893
|
0.00011
|
NM_013254.4(TBK1):c.378A>G (p.Leu126=)
|
rs144462850
|
0.00011
|
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu)
|
rs34774243
|
0.00011
|
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)
|
rs200792883
|
0.00011
|
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
0.00011
|
NM_015046.7(SETX):c.3090T>C (p.Leu1030=)
|
rs368677513
|
0.00011
|
NM_015046.7(SETX):c.5012G>A (p.Gly1671Asp)
|
rs775112319
|
0.00011
|
NM_015046.7(SETX):c.5941C>T (p.Leu1981=)
|
rs373324070
|
0.00011
|
NM_015046.7(SETX):c.7092T>C (p.Asp2364=)
|
rs144607919
|
0.00011
|
NM_016042.4(EXOSC3):c.*402C>T
|
rs567641975
|
0.00011
|
NM_016955.4(SEPSECS):c.1027-7G>A
|
rs374407543
|
0.00011
|
NM_016955.4(SEPSECS):c.388+10G>A
|
rs376797370
|
0.00011
|
NM_016955.4(SEPSECS):c.389-8A>C
|
rs368514215
|
0.00011
|
NM_018325.5(C9orf72):c.477A>G (p.Leu159=)
|
rs374411112
|
0.00011
|
NM_018834.6(MATR3):c.*2174C>T
|
rs775200100
|
0.00011
|
NM_020631.5(PLEKHG5):c.*1347G>T
|
rs886046486
|
0.00011
|
NM_020631.6(PLEKHG5):c.1497G>A (p.Leu499=)
|
rs749662321
|
0.00011
|
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys)
|
rs201551894
|
0.00011
|
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys)
|
rs200416249
|
0.00011
|
NM_021076.4(NEFH):c.1321G>A (p.Glu441Lys)
|
rs145061116
|
0.00011
|
NM_021815.5(SLC5A7):c.178+18C>T
|
rs372695865
|
0.00011
|
NM_021815.5(SLC5A7):c.619T>C (p.Leu207=)
|
rs139476914
|
0.00011
|
NM_021815.5(SLC5A7):c.742-6G>A
|
rs371989232
|
0.00011
|
NM_021815.5(SLC5A7):c.786C>G (p.Leu262=)
|
rs190152555
|
0.00011
|
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp)
|
rs139498464
|
0.00011
|
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)
|
rs201902382
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu)
|
rs201214741
|
0.00011
|
NM_177924.5(ASAH1):c.-219A>T
|
rs539981182
|
0.00011
|
NM_205836.3(FBXO38):c.1117G>A (p.Val373Met)
|
rs201279960
|
0.00011
|
NM_205836.3(FBXO38):c.1491C>T (p.Asp497=)
|
rs146067715
|
0.00011
|
NM_205836.3(FBXO38):c.1968G>T (p.Gln656His)
|
rs370471937
|
0.00011
|
NM_213720.3(CHCHD10):c.410-12C>T
|
rs750841860
|
0.00011
|
NM_213720.3(CHCHD10):c.410-17T>G
|
rs754306778
|
0.00011
|
NM_213720.3(CHCHD10):c.410-19G>C
|
rs754492535
|
0.00011
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
NM_001003800.2(BICD2):c.2514C>T (p.Thr838=)
|
rs144390290
|
0.00010
|
NM_001003800.2(BICD2):c.58G>A (p.Glu20Lys)
|
rs780000539
|
0.00010
|
NM_001003800.2(BICD2):c.753C>T (p.Arg251=)
|
rs533852054
|
0.00010
|
NM_001122955.4(BSCL2):c.*49T>G
|
rs368144792
|
0.00010
|
NM_001122955.4(BSCL2):c.*58G>A
|
rs755714656
|
0.00010
|
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)
|
rs10776
|
0.00010
|
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)
|
rs200300686
|
0.00010
|
NM_001145809.2(MYH14):c.1049G>A (p.Arg350Gln)
|
rs373908919
|
0.00010
|
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln)
|
rs763472009
|
0.00010
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730
|
0.00010
|
NM_002047.4(GARS1):c.765G>A (p.Ala255=)
|
rs201447520
|
0.00010
|
NM_002180.3(IGHMBP2):c.*565G>A
|
rs935838633
|
0.00010
|
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=)
|
rs201485072
|
0.00010
|
NM_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu)
|
rs776775995
|
0.00010
|
NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val)
|
rs375300165
|
0.00010
|
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=)
|
rs759627672
|
0.00010
|
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=)
|
rs145631247
|
0.00010
|
NM_002180.3(IGHMBP2):c.2976G>A (p.Gly992=)
|
rs755792559
|
0.00010
|
NM_002180.3(IGHMBP2):c.856C>T (p.Arg286Trp)
|
rs751421003
|
0.00010
|
NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp)
|
rs139130383
|
0.00010
|
NM_003334.4(UBA1):c.1482C>T (p.Cys494=)
|
rs782484295
|
0.00010
|
NM_003334.4(UBA1):c.2003+12G>A
|
rs373695438
|
0.00010
|
NM_003334.4(UBA1):c.388G>C (p.Val130Leu)
|
rs782523969
|
0.00010
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
NM_003900.5(SQSTM1):c.1083C>T (p.Ser361=)
|
rs201591177
|
0.00010
|
NM_003900.5(SQSTM1):c.755-8G>A
|
rs369581639
|
0.00010
|
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser)
|
rs752506754
|
0.00010
|
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met)
|
rs143914684
|
0.00010
|
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg)
|
rs143800457
|
0.00010
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
NM_004082.5(DCTN1):c.3212-10G>A
|
rs201516838
|
0.00010
|
NM_004082.5(DCTN1):c.3543G>A (p.Pro1181=)
|
rs745853966
|
0.00010
|
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly)
|
rs758320436
|
0.00010
|
NM_004082.5(DCTN1):c.424G>C (p.Ala142Pro)
|
rs372096285
|
0.00010
|
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile)
|
rs368273709
|
0.00010
|
NM_004960.3(FUS):c.*1843G>A
|
rs886051951
|
0.00010
|
NM_004960.4(FUS):c.1169-11A>G
|
rs181859716
|
0.00010
|
NM_004960.4(FUS):c.661_663del (p.Ser221del)
|
rs746633090
|
0.00010
|
NM_013254.4(TBK1):c.1073G>A (p.Arg358His)
|
rs374208742
|
0.00010
|
NM_013254.4(TBK1):c.175T>C (p.Leu59=)
|
rs545011546
|
0.00010
|
NM_013444.4(UBQLN2):c.-163G>T
|
rs192883799
|
0.00010
|
NM_013444.4(UBQLN2):c.51T>A (p.Pro17=)
|
rs371163085
|
0.00010
|
NM_014043.4(CHMP2B):c.*718C>T
|
rs918982067
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)
|
rs140892948
|
0.00010
|
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)
|
rs368323660
|
0.00010
|
NM_015046.7(SETX):c.431A>G (p.Asn144Ser)
|
rs767453182
|
0.00010
|
NM_015046.7(SETX):c.7926G>A (p.Glu2642=)
|
rs147986724
|
0.00010
|
NM_016042.4(EXOSC3):c.*63T>G
|
rs753180747
|
0.00010
|
NM_018834.6(MATR3):c.265A>G (p.Ile89Val)
|
rs528548235
|
0.00010
|
NM_020631.6(PLEKHG5):c.1182C>T (p.His394=)
|
rs754889755
|
0.00010
|
NM_020631.6(PLEKHG5):c.2212A>G (p.Met738Val)
|
rs778686532
|
0.00010
|
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=)
|
rs184541137
|
0.00010
|
NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln)
|
rs376237905
|
0.00010
|
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)
|
rs61745503
|
0.00010
|
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met)
|
rs201089588
|
0.00010
|
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022
|
0.00010
|
NM_025137.4(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu)
|
rs747133152
|
0.00010
|
NM_025265.4(TSEN2):c.971C>T (p.Thr324Met)
|
rs772061041
|
0.00010
|
NM_205836.3(FBXO38):c.1394G>A (p.Arg465His)
|
rs200187682
|
0.00010
|
NM_205836.3(FBXO38):c.3261C>G (p.Ile1087Met)
|
rs201719515
|
0.00010
|
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)
|
rs201999500
|
0.00009
|
NM_000052.7(ATP7A):c.2407-14G>T
|
rs782184126
|
0.00009
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
|
rs146392305
|
0.00009
|
NM_000454.5(SOD1):c.-26A>G
|
rs571199057
|
0.00009
|
NM_001003800.2(BICD2):c.1236C>T (p.Asn412=)
|
rs761796557
|
0.00009
|
NM_001003800.2(BICD2):c.1401C>T (p.His467=)
|
rs144442734
|
0.00009
|
NM_001003800.2(BICD2):c.2172G>C (p.Glu724Asp)
|
rs201335175
|
0.00009
|
NM_001003800.2(BICD2):c.240+10G>T
|
rs976041248
|
0.00009
|
NM_001003800.2(BICD2):c.496G>A (p.Asp166Asn)
|
rs376208721
|
0.00009
|
NM_001003800.2(BICD2):c.713G>A (p.Arg238Gln)
|
rs201389004
|
0.00009
|
NM_001008212.2(OPTN):c.1401+4A>G
|
rs371470839
|
0.00009
|
NM_001008212.2(OPTN):c.883-17G>T
|
rs561692004
|
0.00009
|
NM_001256054.3(C9orf72):c.-152A>G
|
rs756998583
|
0.00009
|
NM_001376.5(DYNC1H1):c.256+4C>T
|
rs546058194
|
0.00009
|
NM_002047.4(GARS1):c.270C>T (p.Asp90=)
|
rs369898799
|
0.00009
|
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys)
|
rs373326652
|
0.00009
|
NM_002180.3(IGHMBP2):c.*417C>A
|
rs117542830
|
0.00009
|
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354
|
0.00009
|
NM_002180.3(IGHMBP2):c.2612-13G>A
|
rs369494910
|
0.00009
|
NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=)
|
rs779293148
|
0.00009
|
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln)
|
rs199863781
|
0.00009
|
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr)
|
rs536962342
|
0.00009
|
NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val)
|
rs779639460
|
0.00009
|
NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His)
|
rs756408576
|
0.00009
|
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn)
|
rs139635469
|
0.00009
|
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn)
|
rs200629777
|
0.00009
|
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp)
|
rs185589110
|
0.00009
|
NM_003384.3(VRK1):c.216+19A>G
|
rs200465413
|
0.00009
|
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg)
|
rs149350224
|
0.00009
|
NM_003900.5(SQSTM1):c.171G>C (p.Ala57=)
|
rs773605598
|
0.00009
|
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=)
|
rs376214713
|
0.00009
|
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn)
|
rs201923000
|
0.00009
|
NM_004082.5(DCTN1):c.1266C>T (p.Thr422=)
|
rs368742342
|
0.00009
|
NM_004082.5(DCTN1):c.1447C>T (p.Leu483=)
|
rs145369076
|
0.00009
|
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile)
|
rs200834352
|
0.00009
|
NM_004082.5(DCTN1):c.3573G>A (p.Gln1191=)
|
rs137966704
|
0.00009
|
NM_004738.5(VAPB):c.*4394C>T
|
rs1042545830
|
0.00009
|
NM_004738.5(VAPB):c.*5771T>G
|
rs746524529
|
0.00009
|
NM_004738.5(VAPB):c.486T>A (p.Asp162Glu)
|
rs780851496
|
0.00009
|
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp)
|
rs144718603
|
0.00009
|
NM_004960.4(FUS):c.222A>G (p.Gly74=)
|
rs757454595
|
0.00009
|
NM_006308.3(HSPB3):c.-67C>T
|
rs913988211
|
0.00009
|
NM_006308.3(HSPB3):c.98dup (p.Leu34fs)
|
rs778166378
|
0.00009
|
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)
|
rs148329626
|
0.00009
|
NM_007126.5(VCP):c.1875G>T (p.Arg625=)
|
rs201410035
|
0.00009
|
NM_007126.5(VCP):c.2229G>A (p.Ala743=)
|
rs200767982
|
0.00009
|
NM_007126.5(VCP):c.340A>G (p.Ile114Val)
|
rs549915384
|
0.00009
|
NM_007375.4(TARDBP):c.945G>A (p.Ala315=)
|
rs145364830
|
0.00009
|
NM_007375.4(TARDBP):c.975C>T (p.Ala325=)
|
rs777072801
|
0.00009
|
NM_014043.4(CHMP2B):c.*1421C>T
|
rs1016915311
|
0.00009
|
NM_014043.4(CHMP2B):c.532-3T>C
|
rs375829451
|
0.00009
|
NM_014365.3(HSPB8):c.*123G>A
|
rs987225344
|
0.00009
|
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850
|
0.00009
|
NM_014845.6(FIG4):c.350C>T (p.Ala117Val)
|
rs551339249
|
0.00009
|
NM_015046.7(SETX):c.1065C>T (p.Ile355=)
|
rs376107422
|
0.00009
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser)
|
rs754357821
|
0.00009
|
NM_015046.7(SETX):c.4677A>G (p.Lys1559=)
|
rs200123129
|
0.00009
|
NM_015046.7(SETX):c.4866G>A (p.Pro1622=)
|
rs779472573
|
0.00009
|
NM_015046.7(SETX):c.5852A>G (p.His1951Arg)
|
rs146593865
|
0.00009
|
NM_015046.7(SETX):c.7770C>T (p.Pro2590=)
|
rs532828022
|
0.00009
|
NM_015046.7(SETX):c.78G>A (p.Pro26=)
|
rs139972421
|
0.00009
|
NM_016955.4(SEPSECS):c.*1637G>A
|
rs781169592
|
0.00009
|
NM_016955.4(SEPSECS):c.*1727G>A
|
rs886059345
|
0.00009
|
NM_016955.4(SEPSECS):c.*2179T>C
|
rs886059344
|
0.00009
|
NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly)
|
rs572892329
|
0.00009
|
NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp)
|
rs139718374
|
0.00009
|
NM_016955.4(SEPSECS):c.960A>G (p.Leu320=)
|
rs141199115
|
0.00009
|
NM_018834.6(MATR3):c.*857C>T
|
rs745417770
|
0.00009
|
NM_018834.6(MATR3):c.1116A>G (p.Pro372=)
|
rs375938101
|
0.00009
|
NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser)
|
rs144637575
|
0.00009
|
NM_018834.6(MATR3):c.2543A>G (p.Ter848=)
|
rs200664940
|
0.00009
|
NM_020631.5(PLEKHG5):c.*801G>A
|
rs886046491
|
0.00009
|
NM_020631.6(PLEKHG5):c.1393-10C>A
|
rs768925221
|
0.00009
|
NM_020631.6(PLEKHG5):c.1934-16G>A
|
rs201675267
|
0.00009
|
NM_020631.6(PLEKHG5):c.2215C>T (p.Arg739Trp)
|
rs189468475
|
0.00009
|
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met)
|
rs111724922
|
0.00009
|
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu)
|
rs369440409
|
0.00009
|
NM_020631.6(PLEKHG5):c.2967C>T (p.Tyr989=)
|
rs773618556
|
0.00009
|
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln)
|
rs142378760
|
0.00009
|
NM_021815.5(SLC5A7):c.1197G>A (p.Thr399=)
|
rs141187628
|
0.00009
|
NM_021815.5(SLC5A7):c.1440A>G (p.Lys480=)
|
rs3731682
|
0.00009
|
NM_021815.5(SLC5A7):c.1453G>A (p.Val485Ile)
|
rs754211137
|
0.00009
|
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln)
|
rs199864231
|
0.00009
|
NM_021815.5(SLC5A7):c.474T>C (p.Asp158=)
|
rs201965363
|
0.00009
|
NM_021815.5(SLC5A7):c.759A>G (p.Pro253=)
|
rs372145153
|
0.00009
|
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)
|
rs201271196
|
0.00009
|
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)
|
rs376817637
|
0.00009
|
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp)
|
rs79186522
|
0.00009
|
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)
|
rs150571352
|
0.00009
|
NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser)
|
rs397518454
|
0.00009
|
NM_199189.3(MATR3):c.-339+2T>A
|
rs539017488
|
0.00009
|
NM_199189.3(MATR3):c.-422C>T
|
rs751398373
|
0.00009
|
NM_205836.3(FBXO38):c.1738+8T>A
|
rs369463389
|
0.00009
|
NM_213720.3(CHCHD10):c.42-9C>A
|
rs1392906115
|
0.00009
|
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr)
|
rs781817601
|
0.00008
|
NM_000052.7(ATP7A):c.1947-3A>G
|
rs782237008
|
0.00008
|
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)
|
rs147848649
|
0.00008
|
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val)
|
rs782351352
|
0.00008
|
NM_001003800.2(BICD2):c.1370G>A (p.Arg457His)
|
rs370118099
|
0.00008
|
NM_001003800.2(BICD2):c.2245A>G (p.Met749Val)
|
rs145923602
|
0.00008
|
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val)
|
rs149891938
|
0.00008
|
NM_001003800.2(BICD2):c.957G>A (p.Thr319=)
|
rs201926954
|
0.00008
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
NM_001122955.4(BSCL2):c.88-19C>T
|
rs760935362
|
0.00008
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
NM_002047.4(GARS1):c.882-15T>G
|
rs199741850
|
0.00008
|
NM_002180.3(IGHMBP2):c.*666G>A
|
rs576058010
|
0.00008
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_002180.3(IGHMBP2):c.1236-10C>T
|
rs778515935
|
0.00008
|
NM_002180.3(IGHMBP2):c.1482C>T (p.Ala494=)
|
rs773180915
|
0.00008
|
NM_002180.3(IGHMBP2):c.1633-14G>A
|
rs368126775
|
0.00008
|
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp)
|
rs146409569
|
0.00008
|
NM_002180.3(IGHMBP2):c.2191G>A (p.Ala731Thr)
|
rs139871647
|
0.00008
|
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=)
|
rs146286133
|
0.00008
|
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=)
|
rs779753312
|
0.00008
|
NM_002180.3(IGHMBP2):c.548-20C>T
|
rs368802434
|
0.00008
|
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln)
|
rs200566598
|
0.00008
|
NM_003334.4(UBA1):c.1156C>T (p.Leu386=)
|
rs782722368
|
0.00008
|
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg)
|
rs373305404
|
0.00008
|
NM_003334.4(UBA1):c.1665C>T (p.Asp555=)
|
rs376109672
|
0.00008
|
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr)
|
rs371005753
|
0.00008
|
NM_003334.4(UBA1):c.2813A>G (p.Glu938Gly)
|
rs782120956
|
0.00008
|
NM_003334.4(UBA1):c.679-16C>T
|
rs200690232
|
0.00008
|
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu)
|
rs371719657
|
0.00008
|
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln)
|
rs151052060
|
0.00008
|
NM_004082.5(DCTN1):c.1422G>A (p.Leu474=)
|
rs149184538
|
0.00008
|
NM_004082.5(DCTN1):c.3197-8G>A
|
rs371393698
|
0.00008
|
NM_004082.5(DCTN1):c.3546G>A (p.Ser1182=)
|
rs149440626
|
0.00008
|
NM_004082.5(DCTN1):c.358+18A>T
|
rs771340635
|
0.00008
|
NM_004960.4(FUS):c.339C>T (p.Tyr113=)
|
rs770345118
|
0.00008
|
NM_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser)
|
rs372751122
|
0.00008
|
NM_006308.3(HSPB3):c.2T>C (p.Met1Thr)
|
rs769845878
|
0.00008
|
NM_006736.6(DNAJB2):c.561C>T (p.Asn187=)
|
rs143245353
|
0.00008
|
NM_007126.5(VCP):c.1194+3G>A
|
rs183223259
|
0.00008
|
NM_007375.4(TARDBP):c.36C>T (p.Asn12=)
|
rs565091566
|
0.00008
|
NM_013254.4(TBK1):c.630A>T (p.Thr210=)
|
rs201336522
|
0.00008
|
NM_013254.4(TBK1):c.87+8C>T
|
rs148982416
|
0.00008
|
NM_014845.6(FIG4):c.-112G>A
|
rs757848529
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_015046.7(SETX):c.1221A>G (p.Thr407=)
|
rs377618570
|
0.00008
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
NM_015046.7(SETX):c.2865T>C (p.Asp955=)
|
rs368932478
|
0.00008
|
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)
|
rs117229601
|
0.00008
|
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly)
|
rs371687197
|
0.00008
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
NM_015046.7(SETX):c.5842A>G (p.Met1948Val)
|
rs762267386
|
0.00008
|
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)
|
rs147705644
|
0.00008
|
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)
|
rs567672087
|
0.00008
|
NM_016042.4(EXOSC3):c.*611A>G
|
rs939514834
|
0.00008
|
NM_016955.4(SEPSECS):c.*1648G>A
|
rs117876262
|
0.00008
|
NM_016955.4(SEPSECS):c.1027-9T>C
|
rs368335778
|
0.00008
|
NM_016955.4(SEPSECS):c.1212-10C>G
|
rs375688949
|
0.00008
|
NM_018325.5(C9orf72):c.*1548G>A
|
rs549660498
|
0.00008
|
NM_018834.6(MATR3):c.1435-14_1435-11del
|
rs754942776
|
0.00008
|
NM_020631.6(PLEKHG5):c.1393-5C>T
|
rs780578894
|
0.00008
|
NM_020631.6(PLEKHG5):c.186G>A (p.Lys62=)
|
rs372405586
|
0.00008
|
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=)
|
rs369876443
|
0.00008
|
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln)
|
rs761000380
|
0.00008
|
NM_020919.4(ALS2):c.*586G>A
|
rs905259072
|
0.00008
|
NM_020919.4(ALS2):c.366G>A (p.Gln122=)
|
rs775483404
|
0.00008
|
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)
|
rs140535889
|
0.00008
|
NM_021815.5(SLC5A7):c.636C>T (p.Val212=)
|
rs200804007
|
0.00008
|
NM_025137.4(SPG11):c.1602+10T>G
|
rs201535432
|
0.00008
|
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys)
|
rs372419484
|
0.00008
|
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser)
|
rs375896392
|
0.00008
|
NM_205836.3(FBXO38):c.2176G>A (p.Asp726Asn)
|
rs548894296
|
0.00008
|
NM_205836.3(FBXO38):c.3025-13A>T
|
rs201806797
|
0.00008
|
NM_205836.3(FBXO38):c.561A>G (p.Ile187Met)
|
rs750935580
|
0.00008
|
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met)
|
rs781844108
|
0.00007
|
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)
|
rs782290331
|
0.00007
|
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp)
|
rs782415705
|
0.00007
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile)
|
rs781873881
|
0.00007
|
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)
|
rs187925143
|
0.00007
|
NM_000750.5(CHRNB4):c.498C>G (p.Asn166Lys)
|
rs148540431
|
0.00007
|
NM_001003800.2(BICD2):c.1738C>T (p.Arg580Trp)
|
rs573861187
|
0.00007
|
NM_001003800.2(BICD2):c.2142G>C (p.Lys714Asn)
|
rs777986224
|
0.00007
|
NM_001003800.2(BICD2):c.64C>T (p.Leu22=)
|
rs758212511
|
0.00007
|
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)
|
rs142812715
|
0.00007
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
NM_001540.5(HSPB1):c.*116C>T
|
rs368381742
|
0.00007
|
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
|
rs140791936
|
0.00007
|
NM_001540.5(HSPB1):c.501C>T (p.Ala167=)
|
rs529095936
|
0.00007
|
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)
|
rs778264897
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002180.3(IGHMBP2):c.*754G>A
|
rs374679092
|
0.00007
|
NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn)
|
rs200007067
|
0.00007
|
NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile)
|
rs199614709
|
0.00007
|
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu)
|
rs781842141
|
0.00007
|
NM_003334.4(UBA1):c.253G>A (p.Val85Met)
|
rs782796398
|
0.00007
|
NM_003334.4(UBA1):c.720C>T (p.His240=)
|
rs193168226
|
0.00007
|
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His)
|
rs149424705
|
0.00007
|
NM_004082.5(DCTN1):c.1490G>A (p.Arg497His)
|
rs369086889
|
0.00007
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
NM_004082.5(DCTN1):c.2426A>T (p.Asp809Val)
|
rs781268909
|
0.00007
|
NM_004082.5(DCTN1):c.3228G>A (p.Gln1076=)
|
rs202237523
|
0.00007
|
NM_004082.5(DCTN1):c.3529+3A>G
|
rs370727908
|
0.00007
|
NM_004082.5(DCTN1):c.394-16C>G
|
rs371506967
|
0.00007
|
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys)
|
rs141670992
|
0.00007
|
NM_004738.5(VAPB):c.496G>A (p.Val166Ile)
|
rs538630783
|
0.00007
|
NM_004960.3(FUS):c.*1375C>T
|
rs542241137
|
0.00007
|
NM_004960.3(FUS):c.*1610C>T
|
rs538629605
|
0.00007
|
NM_004960.3(FUS):c.*2314C>G
|
rs768611402
|
0.00007
|
NM_005235.3(ERBB4):c.2192C>T (p.Thr731Met)
|
rs374970657
|
0.00007
|
NM_006308.3(HSPB3):c.*10G>A
|
rs200960902
|
0.00007
|
NM_006736.6(DNAJB2):c.175+2T>A
|
rs562669797
|
0.00007
|
NM_006736.6(DNAJB2):c.66-4G>A
|
rs753872606
|
0.00007
|
NM_007375.4(TARDBP):c.*663C>T
|
rs1401373740
|
0.00007
|
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met)
|
rs755520364
|
0.00007
|
NM_013254.4(TBK1):c.1190-9A>G
|
rs375547018
|
0.00007
|
NM_013254.4(TBK1):c.2175C>T (p.Asn725=)
|
rs369222946
|
0.00007
|
NM_013444.4(UBQLN2):c.1302G>T (p.Leu434=)
|
rs759543866
|
0.00007
|
NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln)
|
rs188471297
|
0.00007
|
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928
|
0.00007
|
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)
|
rs141163823
|
0.00007
|
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser)
|
rs372021275
|
0.00007
|
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)
|
rs150421712
|
0.00007
|
NM_015046.7(SETX):c.4353A>G (p.Val1451=)
|
rs771367273
|
0.00007
|
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
|
rs551406712
|
0.00007
|
NM_016955.4(SEPSECS):c.*6G>A
|
rs753956739
|
0.00007
|
NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=)
|
rs375534729
|
0.00007
|
NM_018325.5(C9orf72):c.*891A>G
|
rs952713285
|
0.00007
|
NM_018325.5(C9orf72):c.1238T>C (p.Ile413Thr)
|
rs760887239
|
0.00007
|
NM_018325.5(C9orf72):c.765G>A (p.Leu255=)
|
rs758724401
|
0.00007
|
NM_020631.6(PLEKHG5):c.1510G>A (p.Glu504Lys)
|
rs552364487
|
0.00007
|
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys)
|
rs144245744
|
0.00007
|
NM_020631.6(PLEKHG5):c.2227G>A (p.Gly743Ser)
|
rs145073653
|
0.00007
|
NM_020631.6(PLEKHG5):c.2598G>A (p.Leu866=)
|
rs368328495
|
0.00007
|
NM_020631.6(PLEKHG5):c.439+12C>G
|
rs778853521
|
0.00007
|
NM_020631.6(PLEKHG5):c.541G>A (p.Ala181Thr)
|
rs527341275
|
0.00007
|
NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn)
|
rs765882140
|
0.00007
|
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln)
|
rs368315489
|
0.00007
|
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919
|
0.00007
|
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)
|
rs546957932
|
0.00007
|
NM_021815.5(SLC5A7):c.1081C>T (p.Arg361Trp)
|
rs376624433
|
0.00007
|
NM_021815.5(SLC5A7):c.471C>T (p.Ile157=)
|
rs904669194
|
0.00007
|
NM_021815.5(SLC5A7):c.54T>C (p.Ile18=)
|
rs370177227
|
0.00007
|
NM_021815.5(SLC5A7):c.597+14C>A
|
rs370808911
|
0.00007
|
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)
|
rs529316227
|
0.00007
|
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)
|
rs370282739
|
0.00007
|
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)
|
rs200283964
|
0.00007
|
NM_205836.3(FBXO38):c.1398A>G (p.Glu466=)
|
rs762335815
|
0.00007
|
NM_205836.3(FBXO38):c.1834G>A (p.Val612Ile)
|
rs201999494
|
0.00007
|
NM_205836.3(FBXO38):c.3120G>C (p.Arg1040=)
|
rs770089729
|
0.00007
|
NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn)
|
rs376308638
|
0.00007
|
NM_213720.3(CHCHD10):c.171G>A (p.Val57=)
|
rs780298646
|
0.00007
|
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)
|
rs374353973
|
0.00007
|
NM_213720.3(CHCHD10):c.410-14C>T
|
rs375779737
|
0.00007
|
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=)
|
rs149841982
|
0.00006
|
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)
|
rs372898963
|
0.00006
|
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln)
|
rs782729433
|
0.00006
|
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=)
|
rs781832055
|
0.00006
|
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)
|
rs782166627
|
0.00006
|
NM_000052.7(ATP7A):c.493A>G (p.Met165Val)
|
rs782097214
|
0.00006
|
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val)
|
rs1189996419
|
0.00006
|
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser)
|
rs368147403
|
0.00006
|
NM_000344.4(SMN1):c.662C>T (p.Pro221Leu)
|
rs1336155324
|
0.00006
|
NM_000454.5(SOD1):c.73-4A>G
|
rs374242306
|
0.00006
|
NM_001003800.2(BICD2):c.1168C>A (p.Leu390Ile)
|
rs192669216
|
0.00006
|
NM_001003800.2(BICD2):c.1742G>A (p.Arg581His)
|
rs201771783
|
0.00006
|
NM_001003800.2(BICD2):c.1749C>T (p.Pro583=)
|
rs777813587
|
0.00006
|
NM_001003800.2(BICD2):c.2106+9C>G
|
rs750324371
|
0.00006
|
NM_001003800.2(BICD2):c.2217C>T (p.Asp739=)
|
rs142140690
|
0.00006
|
NM_001003800.2(BICD2):c.2258+18G>C
|
rs376177099
|
0.00006
|
NM_001003800.2(BICD2):c.2429G>A (p.Arg810His)
|
rs556905704
|
0.00006
|
NM_001003800.2(BICD2):c.378G>A (p.Lys126=)
|
rs374643299
|
0.00006
|
NM_001003800.2(BICD2):c.42G>C (p.Val14=)
|
rs564099533
|
0.00006
|
NM_001003800.2(BICD2):c.602A>G (p.Asn201Ser)
|
rs201274230
|
0.00006
|
NM_001003800.2(BICD2):c.728C>T (p.Ala243Val)
|
rs748997644
|
0.00006
|
NM_001003800.2(BICD2):c.981G>A (p.Pro327=)
|
rs200288349
|
0.00006
|
NM_001008212.2(OPTN):c.*218G>C
|
rs886046824
|
0.00006
|
NM_001008212.2(OPTN):c.*413G>A
|
rs886046825
|
0.00006
|
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)
|
rs934287314
|
0.00006
|
NM_001008212.2(OPTN):c.1401+21C>G
|
rs553828705
|
0.00006
|
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr)
|
rs760492259
|
0.00006
|
NM_001008212.2(OPTN):c.573A>G (p.Ser191=)
|
rs773095721
|
0.00006
|
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala)
|
rs750995656
|
0.00006
|
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)
|
rs772516974
|
0.00006
|
NM_001145809.2(MYH14):c.5469+13del
|
rs760445854
|
0.00006
|
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377
|
0.00006
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653
|
0.00006
|
NM_002047.4(GARS1):c.-36C>T
|
rs531483802
|
0.00006
|
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)
|
rs538571144
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)
|
rs181251337
|
0.00006
|
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968
|
0.00006
|
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys)
|
rs750580259
|
0.00006
|
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met)
|
rs747465472
|
0.00006
|
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu)
|
rs77807333
|
0.00006
|
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=)
|
rs199879444
|
0.00006
|
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=)
|
rs149684358
|
0.00006
|
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr)
|
rs138607722
|
0.00006
|
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu)
|
rs201970407
|
0.00006
|
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His)
|
rs368584364
|
0.00006
|
NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val)
|
rs372940951
|
0.00006
|
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln)
|
rs138448914
|
0.00006
|
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
|
rs746259825
|
0.00006
|
NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala)
|
rs751910797
|
0.00006
|
NM_003315.4(DNAJC7):c.170T>C (p.Met57Thr)
|
rs371236469
|
0.00006
|
NM_003334.4(UBA1):c.117+15C>T
|
rs782784799
|
0.00006
|
NM_003334.4(UBA1):c.1356C>T (p.Asp452=)
|
rs375669736
|
0.00006
|
NM_003334.4(UBA1):c.351C>T (p.Tyr117=)
|
rs782799228
|
0.00006
|
NM_003384.3(VRK1):c.*107A>G
|
rs375987917
|
0.00006
|
NM_003384.3(VRK1):c.1005T>C (p.Asp335=)
|
rs948151259
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
NM_003384.3(VRK1):c.286+20T>C
|
rs756827476
|
0.00006
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu)
|
rs375495050
|
0.00006
|
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)
|
rs143511494
|
0.00006
|
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu)
|
rs199854262
|
0.00006
|
NM_003900.5(SQSTM1):c.205+7G>C
|
rs912066047
|
0.00006
|
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)
|
rs769325755
|
0.00006
|
NM_003900.5(SQSTM1):c.378G>A (p.Val126=)
|
rs774780830
|
0.00006
|
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His)
|
rs902195752
|
0.00006
|
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys)
|
rs1478180381
|
0.00006
|
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=)
|
rs145688323
|
0.00006
|
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile)
|
rs376283809
|
0.00006
|
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His)
|
rs752889531
|
0.00006
|
NM_004082.5(DCTN1):c.1393-6T>C
|
rs72466491
|
0.00006
|
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=)
|
rs199751168
|
0.00006
|
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr)
|
rs764443534
|
0.00006
|
NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val)
|
rs72659379
|
0.00006
|
NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)
|
rs758387062
|
0.00006
|
NM_004082.5(DCTN1):c.3132G>C (p.Thr1044=)
|
rs375157202
|
0.00006
|
NM_004082.5(DCTN1):c.336T>G (p.Ser112=)
|
rs371005095
|
0.00006
|
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)
|
rs145819459
|
0.00006
|
NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg)
|
rs758026180
|
0.00006
|
NM_004082.5(DCTN1):c.3699+12C>T
|
rs372930172
|
0.00006
|
NM_004082.5(DCTN1):c.3728T>C (p.Val1243Ala)
|
rs762752851
|
0.00006
|
NM_004082.5(DCTN1):c.3776G>A (p.Arg1259Gln)
|
rs573184955
|
0.00006
|
NM_004082.5(DCTN1):c.394-10C>A
|
rs541163314
|
0.00006
|
NM_004082.5(DCTN1):c.420G>A (p.Pro140=)
|
rs375040197
|
0.00006
|
NM_004738.5(VAPB):c.*348C>T
|
rs182950622
|
0.00006
|
NM_004738.5(VAPB):c.*4265G>A
|
rs780267648
|
0.00006
|
NM_004738.5(VAPB):c.*480T>C
|
rs1037475892
|
0.00006
|
NM_004738.5(VAPB):c.*4923A>G
|
rs776329339
|
0.00006
|
NM_004738.5(VAPB):c.*774G>A
|
rs138920779
|
0.00006
|
NM_004738.5(VAPB):c.574-5C>T
|
rs200211497
|
0.00006
|
NM_004738.5(VAPB):c.651A>G (p.Glu217=)
|
rs767437818
|
0.00006
|
NM_004960.3(FUS):c.*1014G>A
|
rs933525513
|
0.00006
|
NM_004960.3(FUS):c.*2259G>C
|
rs886051954
|
0.00006
|
NM_004960.4(FUS):c.1461C>T (p.Arg487=)
|
rs755870176
|
0.00006
|
NM_004960.4(FUS):c.630G>C (p.Gln210His)
|
rs779124981
|
0.00006
|
NM_004960.4(FUS):c.66G>A (p.Gly22=)
|
rs147877613
|
0.00006
|
NM_004960.4(FUS):c.833-17C>T
|
rs376953672
|
0.00006
|
NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn)
|
rs746079387
|
0.00006
|
NM_006736.6(DNAJB2):c.352+8G>C
|
rs989258467
|
0.00006
|
NM_007126.5(VCP):c.*172C>G
|
rs886063890
|
0.00006
|
NM_007126.5(VCP):c.*217G>T
|
rs981870646
|
0.00006
|
NM_007126.5(VCP):c.*64C>T
|
rs553370942
|
0.00006
|
NM_007126.5(VCP):c.1017A>T (p.Ala339=)
|
rs565534943
|
0.00006
|
NM_007126.5(VCP):c.129+16A>T
|
rs369006103
|
0.00006
|
NM_007126.5(VCP):c.1482+4G>A
|
rs768327051
|
0.00006
|
NM_007126.5(VCP):c.2316-4A>G
|
rs755625059
|
0.00006
|
NM_007126.5(VCP):c.552C>T (p.Cys184=)
|
rs769455914
|
0.00006
|
NM_007126.5(VCP):c.732C>T (p.Tyr244=)
|
rs201610567
|
0.00006
|
NM_007375.4(TARDBP):c.1101C>T (p.Phe367=)
|
rs377531374
|
0.00006
|
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)
|
rs149517613
|
0.00006
|
NM_013254.4(TBK1):c.1797G>A (p.Thr599=)
|
rs758803587
|
0.00006
|
NM_014043.4(CHMP2B):c.*1516C>T
|
rs1024508536
|
0.00006
|
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=)
|
rs376846232
|
0.00006
|
NM_014043.4(CHMP2B):c.424+10A>G
|
rs375906390
|
0.00006
|
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)
|
rs200322526
|
0.00006
|
NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp)
|
rs373536428
|
0.00006
|
NM_014365.2(HSPB8):c.-419A>T
|
rs1011802078
|
0.00006
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
0.00006
|
NM_015046.7(SETX):c.*1523A>G
|
rs758582946
|
0.00006
|
NM_015046.7(SETX):c.*1534G>A
|
rs886063548
|
0.00006
|
NM_015046.7(SETX):c.*2610T>G
|
rs530469492
|
0.00006
|
NM_015046.7(SETX):c.1227A>G (p.Leu409=)
|
rs769913556
|
0.00006
|
NM_015046.7(SETX):c.1497G>A (p.Ala499=)
|
rs142936332
|
0.00006
|
NM_015046.7(SETX):c.1690T>G (p.Leu564Val)
|
rs761877146
|
0.00006
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
NM_015046.7(SETX):c.234G>A (p.Lys78=)
|
rs146206138
|
0.00006
|
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe)
|
rs370551247
|
0.00006
|
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)
|
rs148375192
|
0.00006
|
NM_015046.7(SETX):c.2994C>T (p.Phe998=)
|
rs534579992
|
0.00006
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
NM_015046.7(SETX):c.3207T>A (p.Thr1069=)
|
rs200585636
|
0.00006
|
NM_015046.7(SETX):c.3210T>C (p.Leu1070=)
|
rs145014082
|
0.00006
|
NM_015046.7(SETX):c.3815A>G (p.Lys1272Arg)
|
rs202204341
|
0.00006
|
NM_015046.7(SETX):c.4136A>G (p.His1379Arg)
|
rs181158146
|
0.00006
|
NM_015046.7(SETX):c.5274+8T>C
|
rs369501754
|
0.00006
|
NM_015046.7(SETX):c.5537G>A (p.Arg1846His)
|
rs373571937
|
0.00006
|
NM_015046.7(SETX):c.5616C>T (p.Asn1872=)
|
rs201472554
|
0.00006
|
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
|
rs750372437
|
0.00006
|
NM_015046.7(SETX):c.5853C>G (p.His1951Gln)
|
rs928020122
|
0.00006
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00006
|
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)
|
rs761180215
|
0.00006
|
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)
|
rs200382898
|
0.00006
|
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val)
|
rs376524608
|
0.00006
|
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr)
|
rs202121071
|
0.00006
|
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)
|
rs368269464
|
0.00006
|
NM_015046.7(SETX):c.768G>T (p.Leu256=)
|
rs759468738
|
0.00006
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00006
|
NM_015046.7(SETX):c.93A>G (p.Gln31=)
|
rs201795631
|
0.00006
|
NM_016955.4(SEPSECS):c.*2645A>G
|
rs143152362
|
0.00006
|
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val)
|
rs1025711998
|
0.00006
|
NM_016955.4(SEPSECS):c.388+3A>G
|
rs757504141
|
0.00006
|
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val)
|
rs202043298
|
0.00006
|
NM_018325.5(C9orf72):c.*73G>A
|
rs886063841
|
0.00006
|
NM_018834.6(MATR3):c.*2241A>G
|
rs886060006
|
0.00006
|
NM_018834.6(MATR3):c.*406A>G
|
rs185734839
|
0.00006
|
NM_018834.6(MATR3):c.1129+9A>G
|
rs372039740
|
0.00006
|
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val)
|
rs766453846
|
0.00006
|
NM_020631.5(PLEKHG5):c.*1332C>A
|
rs538419041
|
0.00006
|
NM_020631.5(PLEKHG5):c.*1333C>T
|
rs1157083758
|
0.00006
|
NM_020631.6(PLEKHG5):c.*304C>T
|
rs549168459
|
0.00006
|
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp)
|
rs764053619
|
0.00006
|
NM_020631.6(PLEKHG5):c.124G>C (p.Glu42Gln)
|
rs373611638
|
0.00006
|
NM_020631.6(PLEKHG5):c.1614G>T (p.Leu538=)
|
rs754624083
|
0.00006
|
NM_020631.6(PLEKHG5):c.1680+19G>A
|
rs367829100
|
0.00006
|
NM_020631.6(PLEKHG5):c.1697T>A (p.Leu566Gln)
|
rs376513313
|
0.00006
|
NM_020631.6(PLEKHG5):c.1924C>T (p.Arg642Trp)
|
rs139188442
|
0.00006
|
NM_020631.6(PLEKHG5):c.2421G>A (p.Pro807=)
|
rs767407997
|
0.00006
|
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)
|
rs770593694
|
0.00006
|
NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile)
|
rs371516662
|
0.00006
|
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys)
|
rs763551102
|
0.00006
|
NM_020631.6(PLEKHG5):c.665C>T (p.Thr222Met)
|
rs373678202
|
0.00006
|
NM_020631.6(PLEKHG5):c.768C>T (p.Ser256=)
|
rs780935962
|
0.00006
|
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=)
|
rs370572859
|
0.00006
|
NM_020631.6(PLEKHG5):c.984+13C>G
|
rs202154066
|
0.00006
|
NM_020631.6(PLEKHG5):c.984+7G>A
|
rs111681677
|
0.00006
|
NM_020919.4(ALS2):c.2712G>A (p.Thr904=)
|
rs201200488
|
0.00006
|
NM_021625.5(TRPV4):c.*405G>A
|
rs886048937
|
0.00006
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=)
|
rs142656819
|
0.00006
|
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)
|
rs138396764
|
0.00006
|
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080
|
0.00006
|
NM_021625.5(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854
|
0.00006
|
NM_021815.5(SLC5A7):c.1434A>G (p.Pro478=)
|
rs761926640
|
0.00006
|
NM_021815.5(SLC5A7):c.1467A>G (p.Leu489=)
|
rs181802200
|
0.00006
|
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys)
|
rs3759875
|
0.00006
|
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val)
|
rs375256495
|
0.00006
|
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)
|
rs201842512
|
0.00006
|
NM_025137.4(SPG11):c.3362C>G (p.Thr1121Ser)
|
rs552471760
|
0.00006
|
NM_025137.4(SPG11):c.4798G>A (p.Asp1600Asn)
|
rs770380861
|
0.00006
|
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg)
|
rs139423939
|
0.00006
|
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp)
|
rs368992436
|
0.00006
|
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met)
|
rs781271890
|
0.00006
|
NM_025137.4(SPG11):c.604A>G (p.Met202Val)
|
rs201875705
|
0.00006
|
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)
|
rs149003934
|
0.00006
|
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr)
|
rs141035224
|
0.00006
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00006
|
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)
|
rs371313584
|
0.00006
|
NM_025137.4(SPG11):c.789A>G (p.Lys263=)
|
rs764439012
|
0.00006
|
NM_025137.4(SPG11):c.937G>A (p.Val313Ile)
|
rs533492925
|
0.00006
|
NM_205836.3(FBXO38):c.1168A>G (p.Ile390Val)
|
rs199972552
|
0.00006
|
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln)
|
rs148337492
|
0.00006
|
NM_205836.3(FBXO38):c.1619-7G>A
|
rs374684212
|
0.00006
|
NM_205836.3(FBXO38):c.1756C>T (p.Arg586Cys)
|
rs144744644
|
0.00006
|
NM_205836.3(FBXO38):c.1858C>T (p.Arg620Trp)
|
rs539397614
|
0.00006
|
NM_205836.3(FBXO38):c.2126C>G (p.Ala709Gly)
|
rs776182581
|
0.00006
|
NM_205836.3(FBXO38):c.2661C>G (p.Ala887=)
|
rs142852014
|
0.00006
|
NM_205836.3(FBXO38):c.2675G>A (p.Arg892His)
|
rs183483408
|
0.00006
|
NM_205836.3(FBXO38):c.2683A>G (p.Met895Val)
|
rs758909222
|
0.00006
|
NM_205836.3(FBXO38):c.2754+16T>G
|
rs972756295
|
0.00006
|
NM_205836.3(FBXO38):c.3078C>T (p.His1026=)
|
rs370895783
|
0.00006
|
NM_205836.3(FBXO38):c.3315C>T (p.Phe1105=)
|
rs552366782
|
0.00006
|
NM_205836.3(FBXO38):c.731-5T>C
|
rs528175277
|
0.00006
|
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
|
rs372232940
|
0.00005
|
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=)
|
rs781950759
|
0.00005
|
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn)
|
rs781927920
|
0.00005
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
|
rs207478437
|
0.00005
|
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu)
|
rs782566688
|
0.00005
|
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=)
|
rs781928652
|
0.00005
|
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)
|
rs782154912
|
0.00005
|
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu)
|
rs782143115
|
0.00005
|
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn)
|
rs1057520234
|
0.00005
|
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)
|
rs782475540
|
0.00005
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)
|
rs781970260
|
0.00005
|
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)
|
rs782682493
|
0.00005
|
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
|
rs188836609
|
0.00005
|
NM_000052.7(ATP7A):c.673A>G (p.Met225Val)
|
rs782619990
|
0.00005
|
NM_000454.5(SOD1):c.420C>T (p.Asn140=)
|
rs1804449
|
0.00005
|
NM_000454.5(SOD1):c.73-8T>C
|
rs200764110
|
0.00005
|
NM_001003800.2(BICD2):c.1063-9C>T
|
rs767362616
|
0.00005
|
NM_001003800.2(BICD2):c.1369C>T (p.Arg457Cys)
|
rs376220375
|
0.00005
|
NM_001003800.2(BICD2):c.1481A>G (p.Gln494Arg)
|
rs142985475
|
0.00005
|
NM_001003800.2(BICD2):c.1501C>T (p.Arg501Trp)
|
rs373224610
|
0.00005
|
NM_001003800.2(BICD2):c.1932C>T (p.Ala644=)
|
rs201930889
|
0.00005
|
NM_001003800.2(BICD2):c.2076G>A (p.Thr692=)
|
rs747808072
|
0.00005
|
NM_001003800.2(BICD2):c.2106+17dup
|
rs751046774
|
0.00005
|
NM_001003800.2(BICD2):c.2423G>A (p.Arg808His)
|
rs372322527
|
0.00005
|
NM_001003800.2(BICD2):c.79A>G (p.Lys27Glu)
|
rs575275088
|
0.00005
|
NM_001008212.2(OPTN):c.*1089G>A
|
rs758812707
|
0.00005
|
NM_001008212.2(OPTN):c.-172G>A
|
rs1453573477
|
0.00005
|
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)
|
rs138964424
|
0.00005
|
NM_001199397.3(NEK1):c.107A>G (p.Asn36Ser)
|
rs1404362599
|
0.00005
|
NM_001371279.1(REEP1):c.537C>T (p.Ser179=)
|
rs201564869
|
0.00005
|
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)
|
rs775411387
|
0.00005
|
NM_001540.5(HSPB1):c.-4C>T
|
rs372833436
|
0.00005
|
NM_002180.3(IGHMBP2):c.1236-5C>T
|
rs191443556
|
0.00005
|
NM_002180.3(IGHMBP2):c.1632+4C>T
|
rs775832239
|
0.00005
|
NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=)
|
rs1337346956
|
0.00005
|
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
|
rs199770424
|
0.00005
|
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln)
|
rs202143060
|
0.00005
|
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=)
|
rs373001247
|
0.00005
|
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=)
|
rs374950193
|
0.00005
|
NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met)
|
rs1384314579
|
0.00005
|
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn)
|
rs200897747
|
0.00005
|
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
|
rs541833561
|
0.00005
|
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser)
|
rs775514650
|
0.00005
|
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu)
|
rs370985388
|
0.00005
|
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His)
|
rs761191746
|
0.00005
|
NM_003334.4(UBA1):c.1197C>T (p.Ala399=)
|
rs782593880
|
0.00005
|
NM_003334.4(UBA1):c.1233+8C>T
|
rs1178927745
|
0.00005
|
NM_003334.4(UBA1):c.1543C>A (p.Arg515=)
|
rs150198324
|
0.00005
|
NM_003334.4(UBA1):c.1791G>A (p.Glu597=)
|
rs372366129
|
0.00005
|
NM_003334.4(UBA1):c.2839-7C>T
|
rs199797125
|
0.00005
|
NM_003334.4(UBA1):c.678+18A>T
|
rs782509809
|
0.00005
|
NM_003334.4(UBA1):c.798G>A (p.Glu266=)
|
rs202041421
|
0.00005
|
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln)
|
rs1412431442
|
0.00005
|
NM_003900.5(SQSTM1):c.1165+9A>G
|
rs138885571
|
0.00005
|
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)
|
rs537142935
|
0.00005
|
NM_003900.5(SQSTM1):c.673+10G>C
|
rs753023157
|
0.00005
|
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu)
|
rs151191977
|
0.00005
|
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln)
|
rs1258386028
|
0.00005
|
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly)
|
rs148294622
|
0.00005
|
NM_004082.5(DCTN1):c.159C>T (p.Ala53=)
|
rs759530214
|
0.00005
|
NM_004082.5(DCTN1):c.2318G>T (p.Gly773Val)
|
rs754657052
|
0.00005
|
NM_004082.5(DCTN1):c.2559C>T (p.Ala853=)
|
rs770872113
|
0.00005
|
NM_004082.5(DCTN1):c.2628+18G>A
|
rs770747593
|
0.00005
|
NM_004082.5(DCTN1):c.3137A>G (p.Glu1046Gly)
|
rs145857843
|
0.00005
|
NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu)
|
rs752079233
|
0.00005
|
NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly)
|
rs780875333
|
0.00005
|
NM_004082.5(DCTN1):c.35C>T (p.Thr12Met)
|
rs72659364
|
0.00005
|
NM_004082.5(DCTN1):c.393+7G>A
|
rs778904039
|
0.00005
|
NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln)
|
rs149447433
|
0.00005
|
NM_004082.5(DCTN1):c.450C>T (p.Pro150=)
|
rs762745227
|
0.00005
|
NM_004082.5(DCTN1):c.60G>A (p.Ala20=)
|
rs150204862
|
0.00005
|
NM_004738.5(VAPB):c.*382G>A
|
rs968333452
|
0.00005
|
NM_004738.5(VAPB):c.-189C>T
|
rs886056807
|
0.00005
|
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala)
|
rs752091117
|
0.00005
|
NM_004960.3(FUS):c.-118G>A
|
rs763010069
|
0.00005
|
NM_004960.4(FUS):c.1176G>A (p.Met392Ile)
|
rs751937417
|
0.00005
|
NM_004960.4(FUS):c.1248C>T (p.Gly416=)
|
rs368780804
|
0.00005
|
NM_004960.4(FUS):c.799+13A>T
|
rs374716753
|
0.00005
|
NM_006736.6(DNAJB2):c.675G>A (p.Pro225=)
|
rs61758420
|
0.00005
|
NM_006736.6(DNAJB2):c.705G>A (p.Gln235=)
|
rs752273176
|
0.00005
|
NM_007126.4(VCP):c.-370G>A
|
rs886063895
|
0.00005
|
NM_007126.5(VCP):c.*63G>A
|
rs969638105
|
0.00005
|
NM_007126.5(VCP):c.1611C>G (p.Ala537=)
|
rs750247487
|
0.00005
|
NM_007375.4(TARDBP):c.714+17C>T
|
rs374054081
|
0.00005
|
NM_007375.4(TARDBP):c.87C>T (p.Ser29=)
|
rs201693535
|
0.00005
|
NM_013254.4(TBK1):c.1718G>A (p.Arg573His)
|
rs186475789
|
0.00005
|
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser)
|
rs387906712
|
0.00005
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val)
|
rs772368310
|
0.00005
|
NM_014365.3(HSPB8):c.*803T>C
|
rs886049029
|
0.00005
|
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871
|
0.00005
|
NM_014845.6(FIG4):c.2096+3A>G
|
rs374223402
|
0.00005
|
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)
|
rs372846619
|
0.00005
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00005
|
NM_015046.7(SETX):c.2862G>A (p.Thr954=)
|
rs149610510
|
0.00005
|
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr)
|
rs749204574
|
0.00005
|
NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu)
|
rs375241191
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_015046.7(SETX):c.4A>G (p.Ser2Gly)
|
rs149808180
|
0.00005
|
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile)
|
rs61745659
|
0.00005
|
NM_015046.7(SETX):c.7164G>C (p.Thr2388=)
|
rs368602563
|
0.00005
|
NM_015046.7(SETX):c.718+14C>A
|
rs762900574
|
0.00005
|
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)
|
rs151304085
|
0.00005
|
NM_015046.7(SETX):c.807G>A (p.Ser269=)
|
rs147677608
|
0.00005
|
NM_015046.7(SETX):c.991A>G (p.Ile331Val)
|
rs572884359
|
0.00005
|
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)
|
rs745870736
|
0.00005
|
NM_017411.4(SMN2):c.835-44A>G
|
rs212216
|
0.00005
|
NM_018325.5(C9orf72):c.*454A>G
|
rs754824201
|
0.00005
|
NM_018834.6(MATR3):c.1866C>T (p.Thr622=)
|
rs539542619
|
0.00005
|
NM_020631.6(PLEKHG5):c.1455C>T (p.His485=)
|
rs368630744
|
0.00005
|
NM_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln)
|
rs868161574
|
0.00005
|
NM_020631.6(PLEKHG5):c.1617G>T (p.Ala539=)
|
rs545959722
|
0.00005
|
NM_020631.6(PLEKHG5):c.2172C>T (p.Gly724=)
|
rs759430357
|
0.00005
|
NM_020631.6(PLEKHG5):c.2326G>A (p.Asp776Asn)
|
rs542531545
|
0.00005
|
NM_020631.6(PLEKHG5):c.2361C>T (p.Thr787=)
|
rs201054338
|
0.00005
|
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys)
|
rs193245630
|
0.00005
|
NM_020631.6(PLEKHG5):c.2864A>G (p.Lys955Arg)
|
rs771066341
|
0.00005
|
NM_020631.6(PLEKHG5):c.638C>T (p.Ala213Val)
|
rs367543633
|
0.00005
|
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His)
|
rs909536143
|
0.00005
|
NM_020631.6(PLEKHG5):c.834C>T (p.His278=)
|
rs368463952
|
0.00005
|
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val)
|
rs370591665
|
0.00005
|
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu)
|
rs376835062
|
0.00005
|
NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn)
|
rs1242751535
|
0.00005
|
NM_021625.5(TRPV4):c.*411A>G
|
rs924343915
|
0.00005
|
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)
|
rs199624080
|
0.00005
|
NM_021815.5(SLC5A7):c.178+16G>C
|
rs756377938
|
0.00005
|
NM_021815.5(SLC5A7):c.351G>A (p.Pro117=)
|
rs368109143
|
0.00005
|
NM_021815.5(SLC5A7):c.466A>T (p.Ile156Phe)
|
rs763294235
|
0.00005
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_025137.4(SPG11):c.935G>A (p.Gly312Asp)
|
rs774273136
|
0.00005
|
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)
|
rs142211875
|
0.00005
|
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)
|
rs142083484
|
0.00005
|
NM_205836.3(FBXO38):c.1110G>A (p.Ala370=)
|
rs768439318
|
0.00005
|
NM_205836.3(FBXO38):c.1410T>A (p.Gly470=)
|
rs762232515
|
0.00005
|
NM_205836.3(FBXO38):c.2175C>T (p.Pro725=)
|
rs139469864
|
0.00005
|
NM_205836.3(FBXO38):c.3490G>A (p.Val1164Ile)
|
rs902315086
|
0.00005
|
NM_205836.3(FBXO38):c.3536A>G (p.Asn1179Ser)
|
rs373082610
|
0.00005
|
NM_205836.3(FBXO38):c.781G>A (p.Ala261Thr)
|
rs760815624
|
0.00005
|
NM_213720.3(CHCHD10):c.132C>T (p.Leu44=)
|
rs776304054
|
0.00005
|
NM_213720.3(CHCHD10):c.273C>T (p.Pro91=)
|
rs773772416
|
0.00005
|
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=)
|
rs376042813
|
0.00004
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=)
|
rs139000596
|
0.00004
|
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=)
|
rs377355446
|
0.00004
|
NM_000052.7(ATP7A):c.2172+7G>T
|
rs782433802
|
0.00004
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=)
|
rs1307515001
|
0.00004
|
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp)
|
rs188175511
|
0.00004
|
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=)
|
rs369055537
|
0.00004
|
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=)
|
rs1325311308
|
0.00004
|
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val)
|
rs782323741
|
0.00004
|
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg)
|
rs375788705
|
0.00004
|
NM_000052.7(ATP7A):c.4005+19C>A
|
rs1231604254
|
0.00004
|
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=)
|
rs146052682
|
0.00004
|
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=)
|
rs782587854
|
0.00004
|
NM_000052.7(ATP7A):c.729G>A (p.Lys243=)
|
rs782326318
|
0.00004
|
NM_000052.7(ATP7A):c.765A>G (p.Leu255=)
|
rs781957871
|
0.00004
|
NM_000454.5(SOD1):c.14C>T (p.Ala5Val)
|
rs121912442
|
0.00004
|
NM_000454.5(SOD1):c.180T>C (p.Ser60=)
|
rs373888553
|
0.00004
|
NM_000454.5(SOD1):c.59A>G (p.Asn20Ser)
|
rs768029813
|
0.00004
|
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met)
|
rs201841018
|
0.00004
|
NM_001003800.2(BICD2):c.1224A>G (p.Thr408=)
|
rs201939232
|
0.00004
|
NM_001003800.2(BICD2):c.1259A>C (p.Glu420Ala)
|
rs771432118
|
0.00004
|
NM_001003800.2(BICD2):c.1388G>A (p.Arg463His)
|
rs745500617
|
0.00004
|
NM_001003800.2(BICD2):c.1421A>G (p.Tyr474Cys)
|
rs1014182946
|
0.00004
|
NM_001003800.2(BICD2):c.1446G>A (p.Thr482=)
|
rs370920372
|
0.00004
|
NM_001003800.2(BICD2):c.1491G>A (p.Glu497=)
|
rs761926262
|
0.00004
|
NM_001003800.2(BICD2):c.150G>A (p.Val50=)
|
rs186133837
|
0.00004
|
NM_001003800.2(BICD2):c.1649A>G (p.Asn550Ser)
|
rs754018322
|
0.00004
|
NM_001003800.2(BICD2):c.1696C>T (p.Arg566Cys)
|
rs748022488
|
0.00004
|
NM_001003800.2(BICD2):c.1697G>A (p.Arg566His)
|
rs550312355
|
0.00004
|
NM_001003800.2(BICD2):c.1715G>A (p.Arg572His)
|
rs777902159
|
0.00004
|
NM_001003800.2(BICD2):c.1741C>T (p.Arg581Cys)
|
rs771001231
|
0.00004
|
NM_001003800.2(BICD2):c.1962G>A (p.Gln654=)
|
rs746391061
|
0.00004
|
NM_001003800.2(BICD2):c.2107-16C>T
|
rs368924457
|
0.00004
|
NM_001003800.2(BICD2):c.2319C>T (p.Asp773=)
|
rs370848787
|
0.00004
|
NM_001003800.2(BICD2):c.2331G>A (p.Thr777=)
|
rs779170531
|
0.00004
|
NM_001003800.2(BICD2):c.2452A>G (p.Lys818Glu)
|
rs200341779
|
0.00004
|
NM_001003800.2(BICD2):c.2465C>T (p.Pro822Leu)
|
rs768524403
|
0.00004
|
NM_001003800.2(BICD2):c.2469C>T (p.Ser823=)
|
rs199989045
|
0.00004
|
NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg)
|
rs756910200
|
0.00004
|
NM_001003800.2(BICD2):c.2536T>C (p.Cys846Arg)
|
rs760624844
|
0.00004
|
NM_001003800.2(BICD2):c.2541C>T (p.Ser847=)
|
rs775345022
|
0.00004
|
NM_001003800.2(BICD2):c.285C>T (p.Asp95=)
|
rs770839094
|
0.00004
|
NM_001003800.2(BICD2):c.485G>A (p.Arg162His)
|
rs761506224
|
0.00004
|
NM_001003800.2(BICD2):c.640C>T (p.Arg214Cys)
|
rs201293367
|
0.00004
|
NM_001003800.2(BICD2):c.684T>G (p.Asp228Glu)
|
rs762107122
|
0.00004
|
NM_001003800.2(BICD2):c.746C>T (p.Thr249Met)
|
rs148937530
|
0.00004
|
NM_001003800.2(BICD2):c.905G>T (p.Gly302Val)
|
rs772599458
|
0.00004
|
NM_001008212.2(OPTN):c.*1251C>G
|
rs542617940
|
0.00004
|
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)
|
rs377219791
|
0.00004
|
NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys)
|
rs759605171
|
0.00004
|
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln)
|
rs577097767
|
0.00004
|
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)
|
rs774258585
|
0.00004
|
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)
|
rs757411888
|
0.00004
|
NM_001008212.2(OPTN):c.597T>C (p.Pro199=)
|
rs373699827
|
0.00004
|
NM_001008212.2(OPTN):c.883-9G>A
|
rs372118360
|
0.00004
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
NM_001122955.4(BSCL2):c.1234+14T>G
|
rs778380128
|
0.00004
|
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)
|
rs369732238
|
0.00004
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)
|
rs754683462
|
0.00004
|
NM_001256054.3(C9orf72):c.-173A>G
|
rs886063848
|
0.00004
|
NM_001376.5(DYNC1H1):c.2869-3C>T
|
rs750614475
|
0.00004
|
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)
|
rs764097337
|
0.00004
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
rs200726600
|
0.00004
|
NM_002180.3(IGHMBP2):c.*172C>T
|
rs3750978
|
0.00004
|
NM_002180.3(IGHMBP2):c.*529C>T
|
rs1373174966
|
0.00004
|
NM_002180.3(IGHMBP2):c.1061-15C>T
|
rs369119507
|
0.00004
|
NM_002180.3(IGHMBP2):c.1235+7C>T
|
rs776813722
|
0.00004
|
NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln)
|
rs1021399630
|
0.00004
|
NM_002180.3(IGHMBP2):c.1293C>T (p.Gly431=)
|
rs377460631
|
0.00004
|
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly)
|
rs144240271
|
0.00004
|
NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=)
|
rs750407517
|
0.00004
|
NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys)
|
rs757425203
|
0.00004
|
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)
|
rs368775789
|
0.00004
|
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667
|
0.00004
|
NM_002180.3(IGHMBP2):c.1749C>T (p.Asn583=)
|
rs922075405
|
0.00004
|
NM_002180.3(IGHMBP2):c.1851C>T (p.Val617=)
|
rs780238088
|
0.00004
|
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)
|
rs201563456
|
0.00004
|
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg)
|
rs376644749
|
0.00004
|
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=)
|
rs139237340
|
0.00004
|
NM_002180.3(IGHMBP2):c.2292G>A (p.Glu764=)
|
rs145365851
|
0.00004
|
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg)
|
rs754559345
|
0.00004
|
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)
|
rs773242930
|
0.00004
|
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
|
rs751046981
|
0.00004
|
NM_002180.3(IGHMBP2):c.2531C>T (p.Ala844Val)
|
rs371546836
|
0.00004
|
NM_002180.3(IGHMBP2):c.256+8C>T
|
rs760649755
|
0.00004
|
NM_002180.3(IGHMBP2):c.2612-15G>A
|
rs372230504
|
0.00004
|
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu)
|
rs372629862
|
0.00004
|
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser)
|
rs772387164
|
0.00004
|
NM_002180.3(IGHMBP2):c.2776C>T (p.Leu926=)
|
rs142128884
|
0.00004
|
NM_002180.3(IGHMBP2):c.2784+7C>T
|
rs58094037
|
0.00004
|
NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val)
|
rs759609027
|
0.00004
|
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=)
|
rs3750977
|
0.00004
|
NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=)
|
rs1201956816
|
0.00004
|
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln)
|
rs150123428
|
0.00004
|
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met)
|
rs201112136
|
0.00004
|
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
|
rs772945179
|
0.00004
|
NM_002180.3(IGHMBP2):c.951T>C (p.Ser317=)
|
rs144565481
|
0.00004
|
NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp)
|
rs148642741
|
0.00004
|
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp)
|
rs201504752
|
0.00004
|
NM_003334.4(UBA1):c.1610G>A (p.Arg537His)
|
rs372418523
|
0.00004
|
NM_003334.4(UBA1):c.1765G>A (p.Val589Ile)
|
rs782106589
|
0.00004
|
NM_003334.4(UBA1):c.177-11del
|
rs781797300
|
0.00004
|
NM_003334.4(UBA1):c.2376G>A (p.Gln792=)
|
rs782085921
|
0.00004
|
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=)
|
rs781864389
|
0.00004
|
NM_003334.4(UBA1):c.370G>A (p.Gly124Ser)
|
rs149161653
|
0.00004
|
NM_003334.4(UBA1):c.411G>A (p.Glu137=)
|
rs782009712
|
0.00004
|
NM_003334.4(UBA1):c.423T>C (p.Tyr141=)
|
rs782435953
|
0.00004
|
NM_003384.3(VRK1):c.-11C>T
|
rs1055946372
|
0.00004
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
NM_003384.3(VRK1):c.1170C>G (p.Thr390=)
|
rs776701715
|
0.00004
|
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)
|
rs777028935
|
0.00004
|
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln)
|
rs536881543
|
0.00004
|
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)
|
rs769507445
|
0.00004
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
NM_003384.3(VRK1):c.841A>G (p.Asn281Asp)
|
rs772136738
|
0.00004
|
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln)
|
rs200551825
|
0.00004
|
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu)
|
rs745356508
|
0.00004
|
NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=)
|
rs182058393
|
0.00004
|
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile)
|
rs539682696
|
0.00004
|
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=)
|
rs768110162
|
0.00004
|
NM_003900.5(SQSTM1):c.456C>T (p.Ser152=)
|
rs145037913
|
0.00004
|
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)
|
rs141502868
|
0.00004
|
NM_003900.5(SQSTM1):c.540G>A (p.Ser180=)
|
rs370203737
|
0.00004
|
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His)
|
rs535606152
|
0.00004
|
NM_003900.5(SQSTM1):c.570C>T (p.His190=)
|
rs758110159
|
0.00004
|
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His)
|
rs761822261
|
0.00004
|
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val)
|
rs202235745
|
0.00004
|
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)
|
rs140341924
|
0.00004
|
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala)
|
rs142719499
|
0.00004
|
NM_003900.5(SQSTM1):c.789G>A (p.Gly263=)
|
rs200889080
|
0.00004
|
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met)
|
rs150926394
|
0.00004
|
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=)
|
rs200695664
|
0.00004
|
NM_004082.5(DCTN1):c.-162G>A
|
rs1292504283
|
0.00004
|
NM_004082.5(DCTN1):c.122G>A (p.Arg41Gln)
|
rs752399708
|
0.00004
|
NM_004082.5(DCTN1):c.1324A>G (p.Met442Val)
|
rs763480310
|
0.00004
|
NM_004082.5(DCTN1):c.1822G>A (p.Val608Met)
|
rs780858230
|
0.00004
|
NM_004082.5(DCTN1):c.1936G>T (p.Ala646Ser)
|
rs146865209
|
0.00004
|
NM_004082.5(DCTN1):c.2090G>A (p.Arg697His)
|
rs758712765
|
0.00004
|
NM_004082.5(DCTN1):c.2184+18G>T
|
rs376497087
|
0.00004
|
NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys)
|
rs377183051
|
0.00004
|
NM_004082.5(DCTN1):c.2339T>C (p.Ile780Thr)
|
rs374163967
|
0.00004
|
NM_004082.5(DCTN1):c.2467-17T>A
|
rs371136234
|
0.00004
|
NM_004082.5(DCTN1):c.259A>G (p.Ile87Val)
|
rs969750631
|
0.00004
|
NM_004082.5(DCTN1):c.2646C>T (p.Ser882=)
|
rs191073199
|
0.00004
|
NM_004082.5(DCTN1):c.2647A>T (p.Ser883Cys)
|
rs747769504
|
0.00004
|
NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln)
|
rs375079576
|
0.00004
|
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=)
|
rs371241720
|
0.00004
|
NM_004082.5(DCTN1):c.3075G>A (p.Gln1025=)
|
rs367898436
|
0.00004
|
NM_004082.5(DCTN1):c.3212-6C>A
|
rs750104562
|
0.00004
|
NM_004082.5(DCTN1):c.3353A>T (p.Gln1118Leu)
|
rs1357089479
|
0.00004
|
NM_004082.5(DCTN1):c.3518G>A (p.Arg1173His)
|
rs980920477
|
0.00004
|
NM_004082.5(DCTN1):c.3533C>T (p.Ala1178Val)
|
rs775442446
|
0.00004
|
NM_004082.5(DCTN1):c.3597C>T (p.Val1199=)
|
rs767954436
|
0.00004
|
NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys)
|
rs759373031
|
0.00004
|
NM_004082.5(DCTN1):c.3654A>G (p.Thr1218=)
|
rs774374037
|
0.00004
|
NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val)
|
rs1026036256
|
0.00004
|
NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln)
|
rs553822174
|
0.00004
|
NM_004082.5(DCTN1):c.45C>T (p.Gly15=)
|
rs72466483
|
0.00004
|
NM_004082.5(DCTN1):c.559G>T (p.Ala187Ser)
|
rs960727301
|
0.00004
|
NM_004082.5(DCTN1):c.654G>A (p.Glu218=)
|
rs758731839
|
0.00004
|
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)
|
rs371723224
|
0.00004
|
NM_004082.5(DCTN1):c.824G>A (p.Arg275His)
|
rs375266113
|
0.00004
|
NM_004738.5(VAPB):c.*2733G>A
|
rs533186435
|
0.00004
|
NM_004738.5(VAPB):c.*3305C>G
|
rs747662615
|
0.00004
|
NM_004738.5(VAPB):c.*5145T>C
|
rs79674150
|
0.00004
|
NM_004738.5(VAPB):c.*5453C>T
|
rs1268822756
|
0.00004
|
NM_004738.5(VAPB):c.*6087A>G
|
rs1429161682
|
0.00004
|
NM_004738.5(VAPB):c.*884A>G
|
rs3746398
|
0.00004
|
NM_004738.5(VAPB):c.502A>G (p.Lys168Glu)
|
rs774643393
|
0.00004
|
NM_004738.5(VAPB):c.58+5G>A
|
rs753611165
|
0.00004
|
NM_004960.3(FUS):c.*1081T>G
|
rs769920119
|
0.00004
|
NM_004960.3(FUS):c.*1883T>C
|
rs549012470
|
0.00004
|
NM_004960.3(FUS):c.*2884A>T
|
rs554281103
|
0.00004
|
NM_004960.4(FUS):c.484A>C (p.Asn162His)
|
rs200264565
|
0.00004
|
NM_004960.4(FUS):c.676G>A (p.Gly226Ser)
|
rs758970940
|
0.00004
|
NM_004960.4(FUS):c.788A>G (p.Asn263Ser)
|
rs144917373
|
0.00004
|
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)
|
rs140376902
|
0.00004
|
NM_005866.4(SIGMAR1):c.456A>G (p.Val152=)
|
rs144813067
|
0.00004
|
NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe)
|
rs146118253
|
0.00004
|
NM_006308.3(HSPB3):c.*16T>G
|
rs201783790
|
0.00004
|
NM_006308.3(HSPB3):c.240C>T (p.Phe80=)
|
rs760600821
|
0.00004
|
NM_006308.3(HSPB3):c.346C>T (p.Arg116Ter)
|
rs757339596
|
0.00004
|
NM_006308.3(HSPB3):c.37C>T (p.Pro13Ser)
|
rs372042812
|
0.00004
|
NM_006736.6(DNAJB2):c.209G>A (p.Arg70Gln)
|
rs766183158
|
0.00004
|
NM_006736.6(DNAJB2):c.226A>C (p.Thr76Pro)
|
rs1247249384
|
0.00004
|
NM_006736.6(DNAJB2):c.311G>A (p.Arg104Gln)
|
rs145429721
|
0.00004
|
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=)
|
rs200554674
|
0.00004
|
NM_006736.6(DNAJB2):c.446-9C>T
|
rs375051736
|
0.00004
|
NM_006736.6(DNAJB2):c.571C>T (p.Arg191Trp)
|
rs776893562
|
0.00004
|
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu)
|
rs540759977
|
0.00004
|
NM_006736.6(DNAJB2):c.754G>C (p.Asp252His)
|
rs375536235
|
0.00004
|
NM_007126.5(VCP):c.*15C>T
|
rs762559031
|
0.00004
|
NM_007126.5(VCP):c.*438A>G
|
rs137953487
|
0.00004
|
NM_007126.5(VCP):c.1242G>A (p.Leu414=)
|
rs375262833
|
0.00004
|
NM_007126.5(VCP):c.1359+15C>T
|
rs765387767
|
0.00004
|
NM_007126.5(VCP):c.1360-6T>C
|
rs370296303
|
0.00004
|
NM_007126.5(VCP):c.446-16C>T
|
rs747667635
|
0.00004
|
NM_007126.5(VCP):c.446-17A>G
|
rs543629555
|
0.00004
|
NM_007375.4(TARDBP):c.*83T>C
|
rs80356744
|
0.00004
|
NM_007375.4(TARDBP):c.1122T>C (p.Tyr374=)
|
rs147795017
|
0.00004
|
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)
|
rs80356742
|
0.00004
|
NM_007375.4(TARDBP):c.330T>G (p.Gly110=)
|
rs199804130
|
0.00004
|
NM_007375.4(TARDBP):c.57A>G (p.Pro19=)
|
rs532319219
|
0.00004
|
NM_007375.4(TARDBP):c.720G>A (p.Ala240=)
|
rs765175133
|
0.00004
|
NM_013254.4(TBK1):c.1057A>G (p.Ile353Val)
|
rs755655622
|
0.00004
|
NM_013254.4(TBK1):c.1062C>T (p.Tyr354=)
|
rs141340205
|
0.00004
|
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser)
|
rs748061846
|
0.00004
|
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)
|
rs779715292
|
0.00004
|
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr)
|
rs199905735
|
0.00004
|
NM_013254.4(TBK1):c.1792A>G (p.Met598Val)
|
rs899858451
|
0.00004
|
NM_013254.4(TBK1):c.2170C>T (p.Arg724Cys)
|
rs185524052
|
0.00004
|
NM_013254.4(TBK1):c.723G>A (p.Lys241=)
|
rs371799560
|
0.00004
|
NM_013444.4(UBQLN2):c.1037C>G (p.Ser346Cys)
|
rs753009660
|
0.00004
|
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile)
|
rs374277596
|
0.00004
|
NM_014043.4(CHMP2B):c.321+3A>G
|
rs989392144
|
0.00004
|
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser)
|
rs63750944
|
0.00004
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_014845.6(FIG4):c.33G>C (p.Ser11=)
|
rs527523781
|
0.00004
|
NM_014845.6(FIG4):c.422G>A (p.Arg141Gln)
|
rs762663195
|
0.00004
|
NM_015046.7(SETX):c.1140T>G (p.Pro380=)
|
rs140553290
|
0.00004
|
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn)
|
rs886063558
|
0.00004
|
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)
|
rs763545230
|
0.00004
|
NM_015046.7(SETX):c.146A>G (p.Lys49Arg)
|
rs142551293
|
0.00004
|
NM_015046.7(SETX):c.1626C>T (p.Leu542=)
|
rs746541015
|
0.00004
|
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)
|
rs764995848
|
0.00004
|
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)
|
rs188247474
|
0.00004
|
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)
|
rs377734748
|
0.00004
|
NM_015046.7(SETX):c.2234G>A (p.Arg745His)
|
rs373933140
|
0.00004
|
NM_015046.7(SETX):c.2261C>G (p.Ala754Gly)
|
rs764538703
|
0.00004
|
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
|
rs751429987
|
0.00004
|
NM_015046.7(SETX):c.2502A>G (p.Gly834=)
|
rs762818441
|
0.00004
|
NM_015046.7(SETX):c.2543T>G (p.Val848Gly)
|
rs567711722
|
0.00004
|
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)
|
rs138287942
|
0.00004
|
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)
|
rs370781594
|
0.00004
|
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)
|
rs372529790
|
0.00004
|
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr)
|
rs760535401
|
0.00004
|
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
|
rs376381668
|
0.00004
|
NM_015046.7(SETX):c.377A>G (p.His126Arg)
|
rs368932301
|
0.00004
|
NM_015046.7(SETX):c.3793A>G (p.Thr1265Ala)
|
rs956812554
|
0.00004
|
NM_015046.7(SETX):c.3810G>A (p.Pro1270=)
|
rs753022992
|
0.00004
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
NM_015046.7(SETX):c.399T>C (p.Cys133=)
|
rs779515782
|
0.00004
|
NM_015046.7(SETX):c.4323G>A (p.Gln1441=)
|
rs180992608
|
0.00004
|
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)
|
rs761119964
|
0.00004
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
NM_015046.7(SETX):c.540A>G (p.Lys180=)
|
rs757470639
|
0.00004
|
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)
|
rs199748733
|
0.00004
|
NM_015046.7(SETX):c.5814A>G (p.Gln1938=)
|
rs143868969
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015046.7(SETX):c.6435C>T (p.Ile2145=)
|
rs374110190
|
0.00004
|
NM_015046.7(SETX):c.6546+10C>T
|
rs571194790
|
0.00004
|
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr)
|
rs774458684
|
0.00004
|
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)
|
rs770469636
|
0.00004
|
NM_015046.7(SETX):c.719-4A>G
|
rs775443601
|
0.00004
|
NM_015046.7(SETX):c.7200-15T>C
|
rs754019832
|
0.00004
|
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met)
|
rs773364996
|
0.00004
|
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr)
|
rs530686162
|
0.00004
|
NM_015046.7(SETX):c.77C>T (p.Pro26Leu)
|
rs377617692
|
0.00004
|
NM_015046.7(SETX):c.7809C>T (p.Pro2603=)
|
rs766063614
|
0.00004
|
NM_015046.7(SETX):c.839-6T>C
|
rs760584527
|
0.00004
|
NM_015046.7(SETX):c.986G>A (p.Arg329Gln)
|
rs376077293
|
0.00004
|
NM_015046.7(SETX):c.9A>G (p.Thr3=)
|
rs139681694
|
0.00004
|
NM_016042.4(EXOSC3):c.24G>T (p.Ala8=)
|
rs755145404
|
0.00004
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
0.00004
|
NM_016955.4(SEPSECS):c.*1574T>C
|
rs886059349
|
0.00004
|
NM_016955.4(SEPSECS):c.*1620C>T
|
rs886059348
|
0.00004
|
NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val)
|
rs764436131
|
0.00004
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
NM_018325.5(C9orf72):c.703G>A (p.Val235Ile)
|
rs781214485
|
0.00004
|
NM_018834.6(MATR3):c.*2098A>G
|
rs774066454
|
0.00004
|
NM_018834.6(MATR3):c.1368C>T (p.Thr456=)
|
rs200027384
|
0.00004
|
NM_018834.6(MATR3):c.1778+3A>G
|
rs568895329
|
0.00004
|
NM_018834.6(MATR3):c.1778+5T>C
|
rs377212154
|
0.00004
|
NM_018834.6(MATR3):c.1896T>C (p.Gly632=)
|
rs202208841
|
0.00004
|
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala)
|
rs765603068
|
0.00004
|
NM_018834.6(MATR3):c.2191T>C (p.Leu731=)
|
rs149714542
|
0.00004
|
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn)
|
rs774070119
|
0.00004
|
NM_018834.6(MATR3):c.2454T>C (p.Asn818=)
|
rs146550337
|
0.00004
|
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu)
|
rs374819399
|
0.00004
|
NM_020631.5(PLEKHG5):c.*1087G>T
|
rs761811347
|
0.00004
|
NM_020631.5(PLEKHG5):c.*816C>T
|
rs1557731626
|
0.00004
|
NM_020631.6(PLEKHG5):c.*159G>A
|
rs909809050
|
0.00004
|
NM_020631.6(PLEKHG5):c.*68C>T
|
rs886046496
|
0.00004
|
NM_020631.6(PLEKHG5):c.100G>A (p.Ala34Thr)
|
rs760113279
|
0.00004
|
NM_020631.6(PLEKHG5):c.1145G>C (p.Arg382Pro)
|
rs1020039192
|
0.00004
|
NM_020631.6(PLEKHG5):c.1383C>T (p.Ala461=)
|
rs200957791
|
0.00004
|
NM_020631.6(PLEKHG5):c.1572C>T (p.His524=)
|
rs373184968
|
0.00004
|
NM_020631.6(PLEKHG5):c.1729G>A (p.Ala577Thr)
|
rs143545780
|
0.00004
|
NM_020631.6(PLEKHG5):c.2034C>T (p.Thr678=)
|
rs755808760
|
0.00004
|
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys)
|
rs184242303
|
0.00004
|
NM_020631.6(PLEKHG5):c.2226C>T (p.Ser742=)
|
rs370761668
|
0.00004
|
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr)
|
rs200162521
|
0.00004
|
NM_020631.6(PLEKHG5):c.2676T>C (p.His892=)
|
rs758308121
|
0.00004
|
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)
|
rs764378556
|
0.00004
|
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys)
|
rs778272514
|
0.00004
|
NM_020631.6(PLEKHG5):c.531C>T (p.Thr177=)
|
rs567059799
|
0.00004
|
NM_020631.6(PLEKHG5):c.558C>T (p.Asp186=)
|
rs767157981
|
0.00004
|
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp)
|
rs183712624
|
0.00004
|
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)
|
rs556687525
|
0.00004
|
NM_020631.6(PLEKHG5):c.771C>G (p.Gly257=)
|
rs200400689
|
0.00004
|
NM_020631.6(PLEKHG5):c.793C>T (p.Arg265Trp)
|
rs879253921
|
0.00004
|
NM_020631.6(PLEKHG5):c.823G>A (p.Gly275Ser)
|
rs201267486
|
0.00004
|
NM_020631.6(PLEKHG5):c.84G>A (p.Pro28=)
|
rs140428005
|
0.00004
|
NM_020631.6(PLEKHG5):c.909C>T (p.Tyr303=)
|
rs376900021
|
0.00004
|
NM_020631.6(PLEKHG5):c.916G>A (p.Asp306Asn)
|
rs781614887
|
0.00004
|
NM_020631.6(PLEKHG5):c.984+8C>T
|
rs373560661
|
0.00004
|
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=)
|
rs181782027
|
0.00004
|
NM_020919.4(ALS2):c.2953C>T (p.Leu985Phe)
|
rs41308836
|
0.00004
|
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu)
|
rs41308810
|
0.00004
|
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His)
|
rs190606035
|
0.00004
|
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr)
|
rs765049503
|
0.00004
|
NM_021625.5(TRPV4):c.*303G>A
|
rs909596433
|
0.00004
|
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)
|
rs140040335
|
0.00004
|
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter)
|
rs372452565
|
0.00004
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
NM_021625.5(TRPV4):c.936G>A (p.Ala312=)
|
rs202084699
|
0.00004
|
NM_021815.5(SLC5A7):c.1119G>A (p.Ser373=)
|
rs759819899
|
0.00004
|
NM_021815.5(SLC5A7):c.1145G>A (p.Arg382Gln)
|
rs757121838
|
0.00004
|
NM_021815.5(SLC5A7):c.1322C>T (p.Ser441Phe)
|
rs754554826
|
0.00004
|
NM_021815.5(SLC5A7):c.1496A>C (p.Lys499Thr)
|
rs200286711
|
0.00004
|
NM_021815.5(SLC5A7):c.178+17C>A
|
rs555753695
|
0.00004
|
NM_021815.5(SLC5A7):c.498C>A (p.Ile166=)
|
rs138947334
|
0.00004
|
NM_021815.5(SLC5A7):c.540G>C (p.Gly180=)
|
rs574474443
|
0.00004
|
NM_021815.5(SLC5A7):c.598-3C>T
|
rs191434558
|
0.00004
|
NM_021815.5(SLC5A7):c.810T>C (p.Ala270=)
|
rs146618904
|
0.00004
|
NM_021815.5(SLC5A7):c.872T>C (p.Ile291Thr)
|
rs375397889
|
0.00004
|
NM_025137.4(SPG11):c.1001T>C (p.Ile334Thr)
|
rs760573942
|
0.00004
|
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)
|
rs312262725
|
0.00004
|
NM_025137.4(SPG11):c.2764G>A (p.Val922Ile)
|
rs139399250
|
0.00004
|
NM_025137.4(SPG11):c.2875T>C (p.Cys959Arg)
|
rs375859622
|
0.00004
|
NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn)
|
rs191148548
|
0.00004
|
NM_025137.4(SPG11):c.4907-13C>G
|
rs778489486
|
0.00004
|
NM_025137.4(SPG11):c.6006+3A>G
|
rs201717063
|
0.00004
|
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn)
|
rs771242219
|
0.00004
|
NM_025137.4(SPG11):c.7189A>C (p.Asn2397His)
|
rs779892720
|
0.00004
|
NM_145868.2(ANXA11):c.1424G>A (p.Arg475Gln)
|
rs146644733
|
0.00004
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)
|
rs200455852
|
0.00004
|
NM_205836.3(FBXO38):c.1169T>C (p.Ile390Thr)
|
rs141355914
|
0.00004
|
NM_205836.3(FBXO38):c.1213C>T (p.Leu405=)
|
rs746060798
|
0.00004
|
NM_205836.3(FBXO38):c.1527C>T (p.His509=)
|
rs182585967
|
0.00004
|
NM_205836.3(FBXO38):c.1560C>T (p.Asp520=)
|
rs774448345
|
0.00004
|
NM_205836.3(FBXO38):c.1685C>T (p.Thr562Ile)
|
rs748051444
|
0.00004
|
NM_205836.3(FBXO38):c.2095G>A (p.Asp699Asn)
|
rs569854063
|
0.00004
|
NM_205836.3(FBXO38):c.2181T>C (p.Phe727=)
|
rs370826896
|
0.00004
|
NM_205836.3(FBXO38):c.2199C>T (p.Ser733=)
|
rs756876029
|
0.00004
|
NM_205836.3(FBXO38):c.2201G>C (p.Gly734Ala)
|
rs745545823
|
0.00004
|
NM_205836.3(FBXO38):c.2212G>A (p.Glu738Lys)
|
rs141211499
|
0.00004
|
NM_205836.3(FBXO38):c.2226A>G (p.Thr742=)
|
rs201175127
|
0.00004
|
NM_205836.3(FBXO38):c.2332T>A (p.Cys778Ser)
|
rs770230868
|
0.00004
|
NM_205836.3(FBXO38):c.2751G>A (p.Val917=)
|
rs201169649
|
0.00004
|
NM_205836.3(FBXO38):c.27A>G (p.Lys9=)
|
rs574130437
|
0.00004
|
NM_205836.3(FBXO38):c.3358G>A (p.Ala1120Thr)
|
rs140529583
|
0.00004
|
NM_205836.3(FBXO38):c.3473G>A (p.Arg1158His)
|
rs754331887
|
0.00004
|
NM_205836.3(FBXO38):c.785G>A (p.Arg262Gln)
|
rs1255912171
|
0.00004
|
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)
|
rs374211312
|
0.00004
|
NM_213720.3(CHCHD10):c.262-4C>T
|
rs1021130344
|
0.00004
|
NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser)
|
rs371437007
|
0.00004
|
NM_213720.3(CHCHD10):c.42-2A>G
|
rs1354578196
|
0.00004
|
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser)
|
rs372780635
|
0.00003
|
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln)
|
rs201763950
|
0.00003
|
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly)
|
rs1557232788
|
0.00003
|
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=)
|
rs1297787618
|
0.00003
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp)
|
rs782603364
|
0.00003
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)
|
rs72554638
|
0.00003
|
NM_000052.7(ATP7A):c.1870-12G>T
|
rs1203434891
|
0.00003
|
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys)
|
rs781837620
|
0.00003
|
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)
|
rs782577253
|
0.00003
|
NM_000052.7(ATP7A):c.2406+15G>C
|
rs782547388
|
0.00003
|
NM_000052.7(ATP7A):c.2406+18G>A
|
rs1243579823
|
0.00003
|
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His)
|
rs782174967
|
0.00003
|
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val)
|
rs782430502
|
0.00003
|
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val)
|
rs782513950
|
0.00003
|
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser)
|
rs782764064
|
0.00003
|
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly)
|
rs782231801
|
0.00003
|
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val)
|
rs781866452
|
0.00003
|
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
|
rs1423719687
|
0.00003
|
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr)
|
rs936157944
|
0.00003
|
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys)
|
rs1280037924
|
0.00003
|
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe)
|
rs1189381967
|
0.00003
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
NM_000052.7(ATP7A):c.849T>C (p.Ile283=)
|
rs782773745
|
0.00003
|
NM_000052.7(ATP7A):c.984A>G (p.Pro328=)
|
rs2077657952
|
0.00003
|
NM_000446.7(PON1):c.707A>G (p.Tyr236Cys)
|
rs755475189
|
0.00003
|
NM_000454.4(SOD1):c.-84C>G
|
rs573544165
|
0.00003
|
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp)
|
rs121912243
|
0.00003
|
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val)
|
rs587777884
|
0.00003
|
NM_001003800.2(BICD2):c.1094C>T (p.Thr365Met)
|
rs374704553
|
0.00003
|
NM_001003800.2(BICD2):c.1203G>T (p.Gln401His)
|
rs752209653
|
0.00003
|
NM_001003800.2(BICD2):c.1377G>A (p.Thr459=)
|
rs768159358
|
0.00003
|
NM_001003800.2(BICD2):c.1381G>A (p.Glu461Lys)
|
rs142503252
|
0.00003
|
NM_001003800.2(BICD2):c.1404C>T (p.Ala468=)
|
rs377002671
|
0.00003
|
NM_001003800.2(BICD2):c.1440A>T (p.Ala480=)
|
rs201784829
|
0.00003
|
NM_001003800.2(BICD2):c.1659G>A (p.Met553Ile)
|
rs374912668
|
0.00003
|
NM_001003800.2(BICD2):c.165C>T (p.His55=)
|
rs150915279
|
0.00003
|
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=)
|
rs201343832
|
0.00003
|
NM_001003800.2(BICD2):c.1785G>A (p.Ala595=)
|
rs781638617
|
0.00003
|
NM_001003800.2(BICD2):c.1878C>T (p.Asn626=)
|
rs748417533
|
0.00003
|
NM_001003800.2(BICD2):c.1947G>A (p.Thr649=)
|
rs371647882
|
0.00003
|
NM_001003800.2(BICD2):c.1989C>T (p.Pro663=)
|
rs377116071
|
0.00003
|
NM_001003800.2(BICD2):c.2106+3G>A
|
rs370179608
|
0.00003
|
NM_001003800.2(BICD2):c.2192A>G (p.Asn731Ser)
|
rs756538071
|
0.00003
|
NM_001003800.2(BICD2):c.2265C>T (p.Asp755=)
|
rs751036331
|
0.00003
|
NM_001003800.2(BICD2):c.2386C>T (p.Leu796=)
|
rs140205029
|
0.00003
|
NM_001003800.2(BICD2):c.2401C>T (p.Leu801=)
|
rs776367463
|
0.00003
|
NM_001003800.2(BICD2):c.2440G>T (p.Ala814Ser)
|
rs751158467
|
0.00003
|
NM_001003800.2(BICD2):c.2461A>G (p.Thr821Ala)
|
rs776472510
|
0.00003
|
NM_001003800.2(BICD2):c.355C>A (p.Leu119Ile)
|
rs377156663
|
0.00003
|
NM_001003800.2(BICD2):c.534G>A (p.Leu178=)
|
rs771215407
|
0.00003
|
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg)
|
rs755962512
|
0.00003
|
NM_001003800.2(BICD2):c.691C>T (p.Arg231Cys)
|
rs754659441
|
0.00003
|
NM_001003800.2(BICD2):c.729G>A (p.Ala243=)
|
rs200066450
|
0.00003
|
NM_001003800.2(BICD2):c.793A>G (p.Met265Val)
|
rs779331320
|
0.00003
|
NM_001003800.2(BICD2):c.915C>T (p.His305=)
|
rs373858530
|
0.00003
|
NM_001008212.2(OPTN):c.1533-10G>A
|
rs202006990
|
0.00003
|
NM_001008212.2(OPTN):c.1533-3C>T
|
rs373981784
|
0.00003
|
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)
|
rs771316696
|
0.00003
|
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln)
|
rs550042475
|
0.00003
|
NM_001008212.2(OPTN):c.1713C>T (p.His571=)
|
rs187326591
|
0.00003
|
NM_001008212.2(OPTN):c.219G>A (p.Ser73=)
|
rs1430621754
|
0.00003
|
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)
|
rs202044898
|
0.00003
|
NM_001008212.2(OPTN):c.448C>T (p.Leu150=)
|
rs768270236
|
0.00003
|
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu)
|
rs780122817
|
0.00003
|
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys)
|
rs540943401
|
0.00003
|
NM_001008212.2(OPTN):c.812G>A (p.Arg271His)
|
rs201896586
|
0.00003
|
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)
|
rs141518903
|
0.00003
|
NM_001122955.4(BSCL2):c.1235-6G>A
|
rs762484263
|
0.00003
|
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe)
|
rs756907468
|
0.00003
|
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)
|
rs751277966
|
0.00003
|
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)
|
rs769219167
|
0.00003
|
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu)
|
rs371300947
|
0.00003
|
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys)
|
rs755704452
|
0.00003
|
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His)
|
rs727504915
|
0.00003
|
NM_001145809.2(MYH14):c.4693C>T (p.Arg1565Trp)
|
rs769989306
|
0.00003
|
NM_001145809.2(MYH14):c.5986C>T (p.Arg1996Cys)
|
rs749591626
|
0.00003
|
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp)
|
rs777387819
|
0.00003
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005
|
0.00003
|
NM_002047.4(GARS1):c.1923T>C (p.His641=)
|
rs182542046
|
0.00003
|
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)
|
rs201728920
|
0.00003
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649
|
0.00003
|
NM_002180.3(IGHMBP2):c.*379G>A
|
rs533355737
|
0.00003
|
NM_002180.3(IGHMBP2):c.*415G>A
|
rs886048609
|
0.00003
|
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=)
|
rs779452908
|
0.00003
|
NM_002180.3(IGHMBP2):c.1236-6G>A
|
rs201538340
|
0.00003
|
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)
|
rs200089714
|
0.00003
|
NM_002180.3(IGHMBP2):c.1418+12G>A
|
rs946450534
|
0.00003
|
NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met)
|
rs1170552394
|
0.00003
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe)
|
rs375645505
|
0.00003
|
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)
|
rs369816416
|
0.00003
|
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
|
rs1225363387
|
0.00003
|
NM_002180.3(IGHMBP2):c.1723G>C (p.Val575Leu)
|
rs748775914
|
0.00003
|
NM_002180.3(IGHMBP2):c.1756+4C>T
|
rs778913429
|
0.00003
|
NM_002180.3(IGHMBP2):c.1791C>T (p.Ile597=)
|
rs780440710
|
0.00003
|
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln)
|
rs141107419
|
0.00003
|
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=)
|
rs541245852
|
0.00003
|
NM_002180.3(IGHMBP2):c.1902G>A (p.Gly634=)
|
rs748530497
|
0.00003
|
NM_002180.3(IGHMBP2):c.1932C>T (p.Asp644=)
|
rs769397483
|
0.00003
|
NM_002180.3(IGHMBP2):c.1933G>A (p.Asp645Asn)
|
rs775138577
|
0.00003
|
NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe)
|
rs920864493
|
0.00003
|
NM_002180.3(IGHMBP2):c.1966T>C (p.Ser656Pro)
|
rs755082503
|
0.00003
|
NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp)
|
rs371157210
|
0.00003
|
NM_002180.3(IGHMBP2):c.204G>T (p.Glu68Asp)
|
rs1470672532
|
0.00003
|
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=)
|
rs762291036
|
0.00003
|
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys)
|
rs768670979
|
0.00003
|
NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser)
|
rs778232785
|
0.00003
|
NM_002180.3(IGHMBP2):c.548-19G>A
|
rs1052895374
|
0.00003
|
NM_002180.3(IGHMBP2):c.711+8G>A
|
rs1403938196
|
0.00003
|
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
|
rs141836800
|
0.00003
|
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=)
|
rs770943023
|
0.00003
|
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys)
|
rs201054207
|
0.00003
|
NM_002180.3(IGHMBP2):c.815T>C (p.Leu272Pro)
|
rs773582904
|
0.00003
|
NM_002180.3(IGHMBP2):c.87-19A>G
|
rs183650590
|
0.00003
|
NM_003334.4(UBA1):c.*123C>T
|
rs1057515900
|
0.00003
|
NM_003334.4(UBA1):c.1077A>C (p.Val359=)
|
rs782342123
|
0.00003
|
NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln)
|
rs781909775
|
0.00003
|
NM_003334.4(UBA1):c.1152G>A (p.Arg384=)
|
rs782140095
|
0.00003
|
NM_003334.4(UBA1):c.1226T>C (p.Val409Ala)
|
rs1556788859
|
0.00003
|
NM_003334.4(UBA1):c.1576-19C>T
|
rs782315217
|
0.00003
|
NM_003334.4(UBA1):c.1683T>C (p.Asp561=)
|
rs781873529
|
0.00003
|
NM_003334.4(UBA1):c.176+18C>T
|
rs782702800
|
0.00003
|
NM_003334.4(UBA1):c.2004-12G>A
|
rs201583168
|
0.00003
|
NM_003334.4(UBA1):c.2275-7C>T
|
rs782291288
|
0.00003
|
NM_003334.4(UBA1):c.2359G>A (p.Val787Met)
|
rs1204889932
|
0.00003
|
NM_003334.4(UBA1):c.2391C>T (p.Pro797=)
|
rs1556793279
|
0.00003
|
NM_003334.4(UBA1):c.2661A>G (p.Ala887=)
|
rs782783941
|
0.00003
|
NM_003334.4(UBA1):c.2838+17G>A
|
rs1467681554
|
0.00003
|
NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys)
|
rs1466232811
|
0.00003
|
NM_003334.4(UBA1):c.2913C>T (p.Thr971=)
|
rs782810108
|
0.00003
|
NM_003334.4(UBA1):c.2982G>T (p.Val994=)
|
rs782156608
|
0.00003
|
NM_003334.4(UBA1):c.31C>T (p.Arg11Cys)
|
rs1556786387
|
0.00003
|
NM_003334.4(UBA1):c.436G>A (p.Ala146Thr)
|
rs781969406
|
0.00003
|
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala)
|
rs782084400
|
0.00003
|
NM_003334.4(UBA1):c.733G>A (p.Gly245Arg)
|
rs781803482
|
0.00003
|
NM_003334.4(UBA1):c.852C>T (p.Ser284=)
|
rs781839047
|
0.00003
|
NM_003334.4(UBA1):c.910-8C>T
|
rs374197052
|
0.00003
|
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)
|
rs200206019
|
0.00003
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala)
|
rs199759408
|
0.00003
|
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
|
rs369917766
|
0.00003
|
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)
|
rs1392561922
|
0.00003
|
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)
|
rs755450815
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003384.3(VRK1):c.577-19G>C
|
rs781055432
|
0.00003
|
NM_003384.3(VRK1):c.882C>T (p.Asn294=)
|
rs541660707
|
0.00003
|
NM_003900.5(SQSTM1):c.1104C>T (p.Asp368=)
|
rs750140541
|
0.00003
|
NM_003900.5(SQSTM1):c.1166-5G>A
|
rs765613974
|
0.00003
|
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu)
|
rs759646319
|
0.00003
|
NM_003900.5(SQSTM1):c.301+12C>G
|
rs141530539
|
0.00003
|
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu)
|
rs761423892
|
0.00003
|
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)
|
rs758090054
|
0.00003
|
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile)
|
rs200973006
|
0.00003
|
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=)
|
rs372518286
|
0.00003
|
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg)
|
rs781478225
|
0.00003
|
NM_003900.5(SQSTM1):c.755-10C>T
|
rs763522925
|
0.00003
|
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn)
|
rs774986849
|
0.00003
|
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys)
|
rs138928957
|
0.00003
|
NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln)
|
rs142318791
|
0.00003
|
NM_004082.5(DCTN1):c.1482G>A (p.Ala494=)
|
rs372546194
|
0.00003
|
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln)
|
rs759306485
|
0.00003
|
NM_004082.5(DCTN1):c.1868G>A (p.Arg623Gln)
|
rs763378572
|
0.00003
|
NM_004082.5(DCTN1):c.2005C>T (p.Arg669Cys)
|
rs150746209
|
0.00003
|
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=)
|
rs147297927
|
0.00003
|
NM_004082.5(DCTN1):c.2253+20G>A
|
rs1446016270
|
0.00003
|
NM_004082.5(DCTN1):c.2397G>A (p.Lys799=)
|
rs145150561
|
0.00003
|
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys)
|
rs778201974
|
0.00003
|
NM_004082.5(DCTN1):c.2761-13G>A
|
rs531275207
|
0.00003
|
NM_004082.5(DCTN1):c.2823G>A (p.Leu941=)
|
rs550195526
|
0.00003
|
NM_004082.5(DCTN1):c.2954A>G (p.Lys985Arg)
|
rs751782015
|
0.00003
|
NM_004082.5(DCTN1):c.33+3A>G
|
rs1397714640
|
0.00003
|
NM_004082.5(DCTN1):c.332C>G (p.Ser111Cys)
|
rs374419252
|
0.00003
|
NM_004082.5(DCTN1):c.3382C>G (p.Pro1128Ala)
|
rs757510484
|
0.00003
|
NM_004082.5(DCTN1):c.3444G>A (p.Leu1148=)
|
rs139241420
|
0.00003
|
NM_004082.5(DCTN1):c.3529+11G>C
|
rs772782095
|
0.00003
|
NM_004082.5(DCTN1):c.3721G>A (p.Asp1241Asn)
|
rs184429549
|
0.00003
|
NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val)
|
rs969899022
|
0.00003
|
NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys)
|
rs538932463
|
0.00003
|
NM_004082.5(DCTN1):c.414+1G>A
|
rs576198476
|
0.00003
|
NM_004082.5(DCTN1):c.418C>A (p.Pro140Thr)
|
rs771966365
|
0.00003
|
NM_004082.5(DCTN1):c.439A>G (p.Thr147Ala)
|
rs371437767
|
0.00003
|
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)
|
rs148810193
|
0.00003
|
NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg)
|
rs770153273
|
0.00003
|
NM_004082.5(DCTN1):c.645+10G>A
|
rs776017204
|
0.00003
|
NM_004082.5(DCTN1):c.72C>T (p.Ala24=)
|
rs368633620
|
0.00003
|
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp)
|
rs756611519
|
0.00003
|
NM_004738.5(VAPB):c.*1295T>C
|
rs754082863
|
0.00003
|
NM_004738.5(VAPB):c.*3701C>T
|
rs372302350
|
0.00003
|
NM_004738.5(VAPB):c.*5352C>T
|
rs886056828
|
0.00003
|
NM_004738.5(VAPB):c.*624C>T
|
rs551924874
|
0.00003
|
NM_004738.5(VAPB):c.104C>T (p.Pro35Leu)
|
rs1456089445
|
0.00003
|
NM_004738.5(VAPB):c.163A>C (p.Arg55=)
|
rs150761013
|
0.00003
|
NM_004738.5(VAPB):c.550C>T (p.Arg184Trp)
|
rs750394268
|
0.00003
|
NM_004738.5(VAPB):c.574-14G>A
|
rs754865953
|
0.00003
|
NM_004738.5(VAPB):c.618C>T (p.Ser206=)
|
rs747208140
|
0.00003
|
NM_004960.3(FUS):c.*1580A>G
|
rs886051946
|
0.00003
|
NM_004960.3(FUS):c.*1601C>T
|
rs886051947
|
0.00003
|
NM_004960.3(FUS):c.*1614T>G
|
rs750030096
|
0.00003
|
NM_004960.3(FUS):c.*1650C>T
|
rs886051948
|
0.00003
|
NM_004960.3(FUS):c.*1942G>A
|
rs886051953
|
0.00003
|
NM_004960.3(FUS):c.*196C>T
|
rs886051938
|
0.00003
|
NM_004960.3(FUS):c.*852A>G
|
rs766638312
|
0.00003
|
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser)
|
rs201533156
|
0.00003
|
NM_004960.4(FUS):c.237C>T (p.Gly79=)
|
rs535930927
|
0.00003
|
NM_004960.4(FUS):c.300T>C (p.Tyr100=)
|
rs376424892
|
0.00003
|
NM_004960.4(FUS):c.335+19C>T
|
rs773898038
|
0.00003
|
NM_004960.4(FUS):c.452C>T (p.Pro151Leu)
|
rs144342946
|
0.00003
|
NM_004960.4(FUS):c.673G>A (p.Gly225Ser)
|
rs551577399
|
0.00003
|
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp)
|
rs377539747
|
0.00003
|
NM_005866.4(SIGMAR1):c.124A>G (p.Ile42Val)
|
rs778074369
|
0.00003
|
NM_005866.4(SIGMAR1):c.353-13G>A
|
rs370067220
|
0.00003
|
NM_005866.4(SIGMAR1):c.446-19G>A
|
rs781431829
|
0.00003
|
NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro)
|
rs781091660
|
0.00003
|
NM_005866.4(SIGMAR1):c.554C>T (p.Ala185Val)
|
rs372101503
|
0.00003
|
NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp)
|
rs777843655
|
0.00003
|
NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter)
|
rs1449250083
|
0.00003
|
NM_006000.3(TUBA4A):c.1214T>G (p.Val405Gly)
|
rs773161555
|
0.00003
|
NM_006308.3(HSPB3):c.437C>T (p.Pro146Leu)
|
rs376650697
|
0.00003
|
NM_006308.3(HSPB3):c.67C>T (p.Arg23Ter)
|
rs755999042
|
0.00003
|
NM_006736.6(DNAJB2):c.203A>G (p.Tyr68Cys)
|
rs949341803
|
0.00003
|
NM_006736.6(DNAJB2):c.245G>C (p.Arg82Pro)
|
rs576205050
|
0.00003
|
NM_006736.6(DNAJB2):c.353-12T>A
|
rs752999271
|
0.00003
|
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys)
|
rs544935330
|
0.00003
|
NM_006736.6(DNAJB2):c.588G>A (p.Glu196=)
|
rs376137700
|
0.00003
|
NM_006736.6(DNAJB2):c.761A>G (p.Asp254Gly)
|
rs770788678
|
0.00003
|
NM_006736.6(DNAJB2):c.783C>T (p.Tyr261=)
|
rs762593270
|
0.00003
|
NM_007126.5(VCP):c.2166A>G (p.Val722=)
|
rs781606619
|
0.00003
|
NM_007126.5(VCP):c.2412G>A (p.Leu804=)
|
rs757712897
|
0.00003
|
NM_007126.5(VCP):c.384T>C (p.Gly128=)
|
rs367703031
|
0.00003
|
NM_007126.5(VCP):c.446-11T>G
|
rs746343398
|
0.00003
|
NM_007126.5(VCP):c.54A>G (p.Lys18=)
|
rs766042571
|
0.00003
|
NM_007126.5(VCP):c.624C>T (p.Gly208=)
|
rs781273474
|
0.00003
|
NM_007126.5(VCP):c.708+19G>C
|
rs771589216
|
0.00003
|
NM_007375.3(TARDBP):c.-117G>A
|
rs886045031
|
0.00003
|
NM_007375.3(TARDBP):c.-126G>T
|
rs886045030
|
0.00003
|
NM_007375.4(TARDBP):c.*129T>C
|
rs886045036
|
0.00003
|
NM_007375.4(TARDBP):c.*2123T>C
|
rs1464055996
|
0.00003
|
NM_007375.4(TARDBP):c.*2749T>C
|
rs1028236461
|
0.00003
|
NM_007375.4(TARDBP):c.*306C>T
|
rs1034083151
|
0.00003
|
NM_007375.4(TARDBP):c.*73G>C
|
rs185638796
|
0.00003
|
NM_007375.4(TARDBP):c.*963C>T
|
rs751628760
|
0.00003
|
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)
|
rs367543041
|
0.00003
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
NM_007375.4(TARDBP):c.239-11G>A
|
rs200694980
|
0.00003
|
NM_007375.4(TARDBP):c.403-5T>C
|
rs372872536
|
0.00003
|
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)
|
rs80356718
|
0.00003
|
NM_007375.4(TARDBP):c.900A>G (p.Gly300=)
|
rs146402671
|
0.00003
|
NM_013254.4(TBK1):c.1072C>T (p.Arg358Cys)
|
rs780192375
|
0.00003
|
NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr)
|
rs755069538
|
0.00003
|
NM_013254.4(TBK1):c.1207C>T (p.His403Tyr)
|
rs749709445
|
0.00003
|
NM_013254.4(TBK1):c.1521+20C>T
|
rs769754825
|
0.00003
|
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe)
|
rs368859659
|
0.00003
|
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala)
|
rs765585935
|
0.00003
|
NM_013254.4(TBK1):c.40A>G (p.Ile14Val)
|
rs781325780
|
0.00003
|
NM_013254.4(TBK1):c.454G>C (p.Val152Leu)
|
rs202011771
|
0.00003
|
NM_013254.4(TBK1):c.992C>T (p.Thr331Ile)
|
rs200758840
|
0.00003
|
NM_013254.4(TBK1):c.996T>A (p.Ala332=)
|
rs752407982
|
0.00003
|
NM_013444.4(UBQLN2):c.1198A>G (p.Ser400Gly)
|
rs781734842
|
0.00003
|
NM_014043.4(CHMP2B):c.*1071A>G
|
rs544589377
|
0.00003
|
NM_014043.4(CHMP2B):c.219G>A (p.Thr73=)
|
rs754433917
|
0.00003
|
NM_014043.4(CHMP2B):c.315A>G (p.Thr105=)
|
rs778796624
|
0.00003
|
NM_014845.5(FIG4):c.-152C>A
|
rs1408966015
|
0.00003
|
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)
|
rs377017892
|
0.00003
|
NM_014845.6(FIG4):c.243A>G (p.Lys81=)
|
rs200257799
|
0.00003
|
NM_014845.6(FIG4):c.2547-11A>G
|
rs745613994
|
0.00003
|
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu)
|
rs200970494
|
0.00003
|
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp)
|
rs750102036
|
0.00003
|
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn)
|
rs573441014
|
0.00003
|
NM_015046.7(SETX):c.1099-7A>G
|
rs764675117
|
0.00003
|
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)
|
rs370363342
|
0.00003
|
NM_015046.7(SETX):c.1791C>G (p.Phe597Leu)
|
rs1338284039
|
0.00003
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
0.00003
|
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)
|
rs761725498
|
0.00003
|
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly)
|
rs1400027699
|
0.00003
|
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)
|
rs201096140
|
0.00003
|
NM_015046.7(SETX):c.267A>G (p.Ile89Met)
|
rs767232097
|
0.00003
|
NM_015046.7(SETX):c.2730A>C (p.Ser910=)
|
rs764898504
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.2924C>T (p.Thr975Met)
|
rs200722368
|
0.00003
|
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu)
|
rs557074957
|
0.00003
|
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)
|
rs886063555
|
0.00003
|
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe)
|
rs139559547
|
0.00003
|
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)
|
rs1230355404
|
0.00003
|
NM_015046.7(SETX):c.389-16A>G
|
rs200380642
|
0.00003
|
NM_015046.7(SETX):c.396A>G (p.Leu132=)
|
rs375232867
|
0.00003
|
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)
|
rs371541705
|
0.00003
|
NM_015046.7(SETX):c.4338G>A (p.Val1446=)
|
rs777058489
|
0.00003
|
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)
|
rs756080695
|
0.00003
|
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)
|
rs781185115
|
0.00003
|
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)
|
rs376678876
|
0.00003
|
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp)
|
rs771969117
|
0.00003
|
NM_015046.7(SETX):c.503G>A (p.Arg168Gln)
|
rs772017103
|
0.00003
|
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)
|
rs756770572
|
0.00003
|
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=)
|
rs768582274
|
0.00003
|
NM_015046.7(SETX):c.5361C>T (p.Tyr1787=)
|
rs777886975
|
0.00003
|
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)
|
rs375747001
|
0.00003
|
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala)
|
rs372993859
|
0.00003
|
NM_015046.7(SETX):c.5781+9T>C
|
rs772671321
|
0.00003
|
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)
|
rs746525639
|
0.00003
|
NM_015046.7(SETX):c.6276T>C (p.Asp2092=)
|
rs759395503
|
0.00003
|
NM_015046.7(SETX):c.6396+16G>A
|
rs369168525
|
0.00003
|
NM_015046.7(SETX):c.6396+8G>C
|
rs752365500
|
0.00003
|
NM_015046.7(SETX):c.6453C>T (p.Ile2151=)
|
rs150599672
|
0.00003
|
NM_015046.7(SETX):c.6762C>T (p.Leu2254=)
|
rs1225106822
|
0.00003
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.6843-5T>A
|
rs943904959
|
0.00003
|
NM_015046.7(SETX):c.6925C>T (p.Arg2309Trp)
|
rs1490101518
|
0.00003
|
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)
|
rs138538492
|
0.00003
|
NM_015046.7(SETX):c.7818C>T (p.Gly2606=)
|
rs764270386
|
0.00003
|
NM_015046.7(SETX):c.7851G>A (p.Thr2617=)
|
rs747616517
|
0.00003
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
0.00003
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
NM_016042.4(EXOSC3):c.475-12A>G
|
rs370087266
|
0.00003
|
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)
|
rs565320740
|
0.00003
|
NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys)
|
rs762180254
|
0.00003
|
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)
|
rs773969315
|
0.00003
|
NM_018091.6(ELP3):c.1385G>A (p.Arg462His)
|
rs190129217
|
0.00003
|
NM_018325.5(C9orf72):c.-8A>G
|
rs548524458
|
0.00003
|
NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro)
|
rs200703028
|
0.00003
|
NM_018325.5(C9orf72):c.573A>G (p.Lys191=)
|
rs775042273
|
0.00003
|
NM_018834.6(MATR3):c.*1239A>G
|
rs746298588
|
0.00003
|
NM_018834.6(MATR3):c.*2171C>T
|
rs886060004
|
0.00003
|
NM_018834.6(MATR3):c.*2222G>T
|
rs886060005
|
0.00003
|
NM_018834.6(MATR3):c.*587A>G
|
rs535027907
|
0.00003
|
NM_018834.6(MATR3):c.*770A>G
|
rs886059996
|
0.00003
|
NM_018834.6(MATR3):c.1435-8T>C
|
rs1055412692
|
0.00003
|
NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg)
|
rs750375963
|
0.00003
|
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys)
|
rs757346695
|
0.00003
|
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser)
|
rs758675030
|
0.00003
|
NM_018834.6(MATR3):c.2494-14C>A
|
rs779597861
|
0.00003
|
NM_018834.6(MATR3):c.379C>T (p.Arg127Cys)
|
rs768516057
|
0.00003
|
NM_018834.6(MATR3):c.384T>C (p.Tyr128=)
|
rs776371632
|
0.00003
|
NM_018834.6(MATR3):c.732T>C (p.His244=)
|
rs765914696
|
0.00003
|
NM_018834.6(MATR3):c.975-15C>T
|
rs370659966
|
0.00003
|
NM_020631.6(PLEKHG5):c.1170C>G (p.Ile390Met)
|
rs771928245
|
0.00003
|
NM_020631.6(PLEKHG5):c.1184G>A (p.Arg395His)
|
rs779612506
|
0.00003
|
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val)
|
rs767686554
|
0.00003
|
NM_020631.6(PLEKHG5):c.161G>A (p.Ser54Asn)
|
rs376703933
|
0.00003
|
NM_020631.6(PLEKHG5):c.1736C>T (p.Pro579Leu)
|
rs757727499
|
0.00003
|
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)
|
rs772217003
|
0.00003
|
NM_020631.6(PLEKHG5):c.210+16G>T
|
rs751082247
|
0.00003
|
NM_020631.6(PLEKHG5):c.211-20C>T
|
rs990630026
|
0.00003
|
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu)
|
rs761272621
|
0.00003
|
NM_020631.6(PLEKHG5):c.2432G>A (p.Arg811His)
|
rs891527256
|
0.00003
|
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=)
|
rs755539639
|
0.00003
|
NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile)
|
rs761640668
|
0.00003
|
NM_020631.6(PLEKHG5):c.399C>T (p.Phe133=)
|
rs369888151
|
0.00003
|
NM_020631.6(PLEKHG5):c.607C>T (p.Arg203Cys)
|
rs1315441735
|
0.00003
|
NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp)
|
rs377503203
|
0.00003
|
NM_020631.6(PLEKHG5):c.784G>C (p.Ala262Pro)
|
rs550362834
|
0.00003
|
NM_020631.6(PLEKHG5):c.813G>A (p.Glu271=)
|
rs777414805
|
0.00003
|
NM_020631.6(PLEKHG5):c.849C>T (p.Phe283=)
|
rs750570012
|
0.00003
|
NM_020631.6(PLEKHG5):c.998G>A (p.Arg333Gln)
|
rs759306471
|
0.00003
|
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln)
|
rs761444982
|
0.00003
|
NM_020919.4(ALS2):c.997G>T (p.Ala333Ser)
|
rs777806515
|
0.00003
|
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)
|
rs750086412
|
0.00003
|
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)
|
rs377257364
|
0.00003
|
NM_021625.5(TRPV4):c.2236C>T (p.Arg746Cys)
|
rs375189134
|
0.00003
|
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555
|
0.00003
|
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)
|
rs370289434
|
0.00003
|
NM_021815.5(SLC5A7):c.1114-14G>A
|
rs773703560
|
0.00003
|
NM_021815.5(SLC5A7):c.1144C>T (p.Arg382Ter)
|
rs751468033
|
0.00003
|
NM_021815.5(SLC5A7):c.1285G>A (p.Gly429Arg)
|
rs764287242
|
0.00003
|
NM_021815.5(SLC5A7):c.1529A>C (p.Lys510Thr)
|
rs199693962
|
0.00003
|
NM_021815.5(SLC5A7):c.1655C>A (p.Thr552Asn)
|
rs748431280
|
0.00003
|
NM_021815.5(SLC5A7):c.179-19A>C
|
rs775209241
|
0.00003
|
NM_021815.5(SLC5A7):c.179-20C>T
|
rs375281148
|
0.00003
|
NM_021815.5(SLC5A7):c.448+9C>A
|
rs759922183
|
0.00003
|
NM_021815.5(SLC5A7):c.463G>A (p.Val155Met)
|
rs775903161
|
0.00003
|
NM_021815.5(SLC5A7):c.973C>A (p.Gln325Lys)
|
rs1191969326
|
0.00003
|
NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr)
|
rs768554955
|
0.00003
|
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys)
|
rs764762491
|
0.00003
|
NM_025137.4(SPG11):c.2377G>A (p.Val793Met)
|
rs546601155
|
0.00003
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln)
|
rs778960331
|
0.00003
|
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro)
|
rs367550468
|
0.00003
|
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr)
|
rs775877332
|
0.00003
|
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met)
|
rs200918991
|
0.00003
|
NM_025137.4(SPG11):c.5695C>T (p.Arg1899Trp)
|
rs748177028
|
0.00003
|
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr)
|
rs1060501171
|
0.00003
|
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly)
|
rs147713329
|
0.00003
|
NM_025137.4(SPG11):c.634A>G (p.Ile212Val)
|
rs758638438
|
0.00003
|
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met)
|
rs758008249
|
0.00003
|
NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln)
|
rs370773328
|
0.00003
|
NM_025137.4(SPG11):c.6864_6866dup (p.Ala2288_Gln2289insHis)
|
rs1331704584
|
0.00003
|
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys)
|
rs377341108
|
0.00003
|
NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile)
|
rs35557378
|
0.00003
|
NM_199189.2(MATR3):c.-643A>G
|
rs765907489
|
0.00003
|
NM_205836.3(FBXO38):c.1577G>A (p.Arg526Gln)
|
rs376255193
|
0.00003
|
NM_205836.3(FBXO38):c.1688C>A (p.Pro563Gln)
|
rs779538575
|
0.00003
|
NM_205836.3(FBXO38):c.173G>A (p.Arg58Gln)
|
rs760456022
|
0.00003
|
NM_205836.3(FBXO38):c.1796A>C (p.Glu599Ala)
|
rs781374639
|
0.00003
|
NM_205836.3(FBXO38):c.1851C>T (p.Asn617=)
|
rs764859757
|
0.00003
|
NM_205836.3(FBXO38):c.2201G>A (p.Gly734Asp)
|
rs745545823
|
0.00003
|
NM_205836.3(FBXO38):c.2202C>T (p.Gly734=)
|
rs771687051
|
0.00003
|
NM_205836.3(FBXO38):c.2654-19_2654-18insC
|
rs1348325085
|
0.00003
|
NM_205836.3(FBXO38):c.2794A>G (p.Met932Val)
|
rs372479730
|
0.00003
|
NM_205836.3(FBXO38):c.3275-14C>T
|
rs368303623
|
0.00003
|
NM_205836.3(FBXO38):c.3439A>G (p.Met1147Val)
|
rs550138374
|
0.00003
|
NM_205836.3(FBXO38):c.54A>G (p.Pro18=)
|
rs750961469
|
0.00003
|
NM_205836.3(FBXO38):c.594G>A (p.Gly198=)
|
rs370260497
|
0.00003
|
NM_205836.3(FBXO38):c.707C>A (p.Thr236Asn)
|
rs370799682
|
0.00003
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
0.00003
|
NM_207346.3(TSEN54):c.637A>G (p.Lys213Glu)
|
rs184421010
|
0.00003
|
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu)
|
rs1438034155
|
0.00003
|
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu)
|
rs1557231845
|
0.00002
|
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu)
|
rs782651571
|
0.00002
|
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser)
|
rs1557231883
|
0.00002
|
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr)
|
rs1557229686
|
0.00002
|
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)
|
rs374530062
|
0.00002
|
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile)
|
rs782058395
|
0.00002
|
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser)
|
rs879981699
|
0.00002
|
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn)
|
rs782083382
|
0.00002
|
NM_000052.7(ATP7A):c.1543+9C>G
|
rs367977602
|
0.00002
|
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)
|
rs781952393
|
0.00002
|
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=)
|
rs375479026
|
0.00002
|
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val)
|
rs782444523
|
0.00002
|
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)
|
rs781959472
|
0.00002
|
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val)
|
rs781961626
|
0.00002
|
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
|
rs1308442670
|
0.00002
|
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=)
|
rs781957241
|
0.00002
|
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp)
|
rs782761381
|
0.00002
|
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met)
|
rs782269377
|
0.00002
|
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys)
|
rs782555092
|
0.00002
|
NM_000052.7(ATP7A):c.2173-7A>T
|
rs376179410
|
0.00002
|
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=)
|
rs572956005
|
0.00002
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
0.00002
|
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=)
|
rs1473914623
|
0.00002
|
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=)
|
rs1445955792
|
0.00002
|
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)
|
rs782602356
|
0.00002
|
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=)
|
rs782315761
|
0.00002
|
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg)
|
rs1264242478
|
0.00002
|
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)
|
rs1427317043
|
0.00002
|
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)
|
rs146119866
|
0.00002
|
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=)
|
rs781835541
|
0.00002
|
NM_000052.7(ATP7A):c.2916+10T>G
|
rs2077902893
|
0.00002
|
NM_000052.7(ATP7A):c.2917-9C>T
|
rs188421674
|
0.00002
|
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met)
|
rs782094358
|
0.00002
|
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile)
|
rs782647620
|
0.00002
|
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val)
|
rs782463394
|
0.00002
|
NM_000052.7(ATP7A):c.3294+5A>C
|
rs370596012
|
0.00002
|
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly)
|
rs781914030
|
0.00002
|
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)
|
rs374154862
|
0.00002
|
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=)
|
rs1179465472
|
0.00002
|
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)
|
rs1557238006
|
0.00002
|
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
|
rs782250966
|
0.00002
|
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn)
|
rs1374099672
|
0.00002
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)
|
rs782428979
|
0.00002
|
NM_000052.7(ATP7A):c.4006-10C>T
|
rs782741784
|
0.00002
|
NM_000052.7(ATP7A):c.4006-7T>C
|
rs1406270253
|
0.00002
|
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg)
|
rs781912153
|
0.00002
|
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr)
|
rs781912401
|
0.00002
|
NM_000052.7(ATP7A):c.4124-17C>T
|
rs371435031
|
0.00002
|
NM_000052.7(ATP7A):c.4227-1G>A
|
rs782283173
|
0.00002
|
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)
|
rs782346811
|
0.00002
|
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)
|
rs782232632
|
0.00002
|
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
|
rs782364202
|
0.00002
|
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=)
|
rs1557239138
|
0.00002
|
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr)
|
rs781838499
|
0.00002
|
NM_000052.7(ATP7A):c.588G>A (p.Leu196=)
|
rs782253237
|
0.00002
|
NM_000052.7(ATP7A):c.611-7T>C
|
rs781898993
|
0.00002
|
NM_000052.7(ATP7A):c.6T>C (p.Asp2=)
|
rs951178780
|
0.00002
|
NM_000052.7(ATP7A):c.705A>C (p.Pro235=)
|
rs199608277
|
0.00002
|
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His)
|
rs1557231780
|
0.00002
|
NM_000052.7(ATP7A):c.840T>G (p.Thr280=)
|
rs782713333
|
0.00002
|
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
|
rs372389715
|
0.00002
|
NM_000454.5(SOD1):c.149del (p.Glu50fs)
|
rs752237082
|
0.00002
|
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)
|
rs1482760341
|
0.00002
|
NM_000454.5(SOD1):c.448A>G (p.Ile150Val)
|
rs1169917994
|
0.00002
|
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr)
|
rs747094021
|
0.00002
|
NM_000454.5(SOD1):c.66G>A (p.Glu22=)
|
rs756458346
|
0.00002
|
NM_001003800.2(BICD2):c.1126A>G (p.Thr376Ala)
|
rs757885234
|
0.00002
|
NM_001003800.2(BICD2):c.1128G>A (p.Thr376=)
|
rs184715042
|
0.00002
|
NM_001003800.2(BICD2):c.1130G>A (p.Arg377Gln)
|
rs752402307
|
0.00002
|
NM_001003800.2(BICD2):c.1341C>T (p.Gly447=)
|
rs750241183
|
0.00002
|
NM_001003800.2(BICD2):c.1349G>A (p.Arg450His)
|
rs545926410
|
0.00002
|
NM_001003800.2(BICD2):c.1417C>T (p.Arg473Cys)
|
rs142203302
|
0.00002
|
NM_001003800.2(BICD2):c.1418G>A (p.Arg473His)
|
rs766539334
|
0.00002
|
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys)
|
rs146113445
|
0.00002
|
NM_001003800.2(BICD2):c.1488C>T (p.Arg496=)
|
rs750614733
|
0.00002
|
NM_001003800.2(BICD2):c.1492C>T (p.Leu498=)
|
rs200489354
|
0.00002
|
NM_001003800.2(BICD2):c.1534G>A (p.Val512Ile)
|
rs748921807
|
0.00002
|
NM_001003800.2(BICD2):c.1687G>A (p.Gly563Arg)
|
rs916661191
|
0.00002
|
NM_001003800.2(BICD2):c.1805C>T (p.Thr602Met)
|
rs369050350
|
0.00002
|
NM_001003800.2(BICD2):c.1963C>T (p.Arg655Cys)
|
rs148287063
|
0.00002
|
NM_001003800.2(BICD2):c.1964G>A (p.Arg655His)
|
rs143242735
|
0.00002
|
NM_001003800.2(BICD2):c.2112C>T (p.Ala704=)
|
rs767670894
|
0.00002
|
NM_001003800.2(BICD2):c.2340G>A (p.Ser780=)
|
rs754249319
|
0.00002
|
NM_001003800.2(BICD2):c.2506G>A (p.Glu836Lys)
|
rs779724776
|
0.00002
|
NM_001003800.2(BICD2):c.346C>T (p.Arg116Trp)
|
rs767127458
|
0.00002
|
NM_001003800.2(BICD2):c.365A>G (p.Gln122Arg)
|
rs1477596230
|
0.00002
|
NM_001003800.2(BICD2):c.368C>T (p.Thr123Met)
|
rs372717499
|
0.00002
|
NM_001003800.2(BICD2):c.372G>T (p.Glu124Asp)
|
rs1490576971
|
0.00002
|
NM_001003800.2(BICD2):c.390T>C (p.Asn130=)
|
rs979012435
|
0.00002
|
NM_001003800.2(BICD2):c.405G>A (p.Thr135=)
|
rs746102380
|
0.00002
|
NM_001003800.2(BICD2):c.410C>T (p.Ser137Leu)
|
rs779298360
|
0.00002
|
NM_001003800.2(BICD2):c.478C>T (p.Arg160Cys)
|
rs754493702
|
0.00002
|
NM_001003800.2(BICD2):c.546G>A (p.Ser182=)
|
rs770320084
|
0.00002
|
NM_001003800.2(BICD2):c.641G>A (p.Arg214His)
|
rs373760993
|
0.00002
|
NM_001003800.2(BICD2):c.752G>A (p.Arg251His)
|
rs533199924
|
0.00002
|
NM_001003800.2(BICD2):c.803A>G (p.Asn268Ser)
|
rs566510315
|
0.00002
|
NM_001003800.2(BICD2):c.849C>G (p.Leu283=)
|
rs757409146
|
0.00002
|
NM_001003800.2(BICD2):c.991A>G (p.Ser331Gly)
|
rs775155214
|
0.00002
|
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr)
|
rs768591421
|
0.00002
|
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=)
|
rs367641761
|
0.00002
|
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val)
|
rs900961302
|
0.00002
|
NM_001008212.2(OPTN):c.1428T>C (p.His476=)
|
rs767738080
|
0.00002
|
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln)
|
rs757107215
|
0.00002
|
NM_001008212.2(OPTN):c.287G>A (p.Arg96His)
|
rs184561087
|
0.00002
|
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val)
|
rs764364218
|
0.00002
|
NM_001008212.2(OPTN):c.480C>T (p.Ile160=)
|
rs146593599
|
0.00002
|
NM_001008212.2(OPTN):c.513C>T (p.Ser171=)
|
rs369760173
|
0.00002
|
NM_001008212.2(OPTN):c.626+5del
|
rs776938424
|
0.00002
|
NM_001008212.2(OPTN):c.718C>T (p.Leu240=)
|
rs372486382
|
0.00002
|
NM_001008212.2(OPTN):c.882+3G>A
|
rs761196996
|
0.00002
|
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)
|
rs121909543
|
0.00002
|
NM_001097577.3(ANG):c.441G>A (p.Pro147=)
|
rs759928848
|
0.00002
|
NM_001097577.3(ANG):c.62C>T (p.Pro21Leu)
|
rs773237991
|
0.00002
|
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln)
|
rs202072835
|
0.00002
|
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=)
|
rs766492897
|
0.00002
|
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)
|
rs1057524897
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)
|
rs1006065298
|
0.00002
|
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)
|
rs771322168
|
0.00002
|
NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val)
|
rs775825001
|
0.00002
|
NM_001378743.1(CYLD):c.1933G>A (p.Val645Ile)
|
rs587778223
|
0.00002
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168
|
0.00002
|
NM_001540.5(HSPB1):c.498G>A (p.Glu166=)
|
rs148357753
|
0.00002
|
NM_001761.3(CCNF):c.1870G>A (p.Glu624Lys)
|
rs771621178
|
0.00002
|
NM_002180.3(IGHMBP2):c.-4G>A
|
rs752980392
|
0.00002
|
NM_002180.3(IGHMBP2):c.1060+11G>A
|
rs761888334
|
0.00002
|
NM_002180.3(IGHMBP2):c.1061-19G>A
|
rs775305272
|
0.00002
|
NM_002180.3(IGHMBP2):c.1065G>A (p.Ala355=)
|
rs529978266
|
0.00002
|
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=)
|
rs755300047
|
0.00002
|
NM_002180.3(IGHMBP2):c.1110C>T (p.Asp370=)
|
rs749110357
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser)
|
rs1004816448
|
0.00002
|
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
|
rs373649545
|
0.00002
|
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val)
|
rs139000973
|
0.00002
|
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
|
rs771485988
|
0.00002
|
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
|
rs776158939
|
0.00002
|
NM_002180.3(IGHMBP2):c.1538-19G>A
|
rs199911239
|
0.00002
|
NM_002180.3(IGHMBP2):c.1538-4C>G
|
rs757915735
|
0.00002
|
NM_002180.3(IGHMBP2):c.1552G>A (p.Val518Ile)
|
rs373828321
|
0.00002
|
NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys)
|
rs374185933
|
0.00002
|
NM_002180.3(IGHMBP2):c.1627C>G (p.Leu543Val)
|
rs772592429
|
0.00002
|
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639
|
0.00002
|
NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val)
|
rs764900781
|
0.00002
|
NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp)
|
rs746014167
|
0.00002
|
NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys)
|
rs1448152495
|
0.00002
|
NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys)
|
rs761885813
|
0.00002
|
NM_002180.3(IGHMBP2):c.207C>T (p.Pro69=)
|
rs188719450
|
0.00002
|
NM_002180.3(IGHMBP2):c.216C>T (p.Tyr72=)
|
rs755468547
|
0.00002
|
NM_002180.3(IGHMBP2):c.2185T>C (p.Phe729Leu)
|
rs763014565
|
0.00002
|
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
|
rs765230277
|
0.00002
|
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val)
|
rs754473710
|
0.00002
|
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser)
|
rs751122806
|
0.00002
|
NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser)
|
rs757006949
|
0.00002
|
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu)
|
rs200072932
|
0.00002
|
NM_002180.3(IGHMBP2):c.2648T>C (p.Phe883Ser)
|
rs774483778
|
0.00002
|
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)
|
rs759271458
|
0.00002
|
NM_002180.3(IGHMBP2):c.2685C>T (p.Asn895=)
|
rs764107109
|
0.00002
|
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)
|
rs772280279
|
0.00002
|
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
|
rs148605058
|
0.00002
|
NM_002180.3(IGHMBP2):c.2784+1G>T
|
rs797044803
|
0.00002
|
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp)
|
rs373943338
|
0.00002
|
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=)
|
rs377433281
|
0.00002
|
NM_002180.3(IGHMBP2):c.2925G>A (p.Lys975=)
|
rs890113569
|
0.00002
|
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315
|
0.00002
|
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=)
|
rs150937080
|
0.00002
|
NM_002180.3(IGHMBP2):c.547C>T (p.His183Tyr)
|
rs548256623
|
0.00002
|
NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile)
|
rs375694606
|
0.00002
|
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys)
|
rs374952782
|
0.00002
|
NM_002180.3(IGHMBP2):c.639T>C (p.His213=)
|
rs764495455
|
0.00002
|
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
|
rs745416724
|
0.00002
|
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val)
|
rs377678376
|
0.00002
|
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys)
|
rs139497493
|
0.00002
|
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=)
|
rs771900045
|
0.00002
|
NM_002937.5(RNASE4):c.-167A>G
|
rs374332721
|
0.00002
|
NM_003334.4(UBA1):c.-178G>A
|
rs1057515898
|
0.00002
|
NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg)
|
rs550631811
|
0.00002
|
NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser)
|
rs782429883
|
0.00002
|
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln)
|
rs1261345480
|
0.00002
|
NM_003334.4(UBA1):c.1115C>A (p.Ala372Glu)
|
rs782051479
|
0.00002
|
NM_003334.4(UBA1):c.1117G>A (p.Val373Met)
|
rs782354395
|
0.00002
|
NM_003334.4(UBA1):c.117+10C>T
|
rs1390029777
|
0.00002
|
NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr)
|
rs917269296
|
0.00002
|
NM_003334.4(UBA1):c.1173T>C (p.Ala391=)
|
rs781783732
|
0.00002
|
NM_003334.4(UBA1):c.118-10C>T
|
rs1288832522
|
0.00002
|
NM_003334.4(UBA1):c.1234-9C>T
|
rs374680331
|
0.00002
|
NM_003334.4(UBA1):c.1294C>T (p.Leu432Phe)
|
rs781838601
|
0.00002
|
NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro)
|
rs1028156593
|
0.00002
|
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg)
|
rs888369922
|
0.00002
|
NM_003334.4(UBA1):c.1420-8C>T
|
rs782038176
|
0.00002
|
NM_003334.4(UBA1):c.1485G>A (p.Gly495=)
|
rs782721809
|
0.00002
|
NM_003334.4(UBA1):c.1638A>G (p.Thr546=)
|
rs201169336
|
0.00002
|
NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln)
|
rs1215231057
|
0.00002
|
NM_003334.4(UBA1):c.1818T>C (p.Asn606=)
|
rs782565505
|
0.00002
|
NM_003334.4(UBA1):c.1851G>A (p.Ser617=)
|
rs782523119
|
0.00002
|
NM_003334.4(UBA1):c.1875T>C (p.Pro625=)
|
rs1361428166
|
0.00002
|
NM_003334.4(UBA1):c.210C>T (p.Leu70=)
|
rs191969626
|
0.00002
|
NM_003334.4(UBA1):c.2292T>C (p.Tyr764=)
|
rs782394637
|
0.00002
|
NM_003334.4(UBA1):c.2460T>C (p.Ser820=)
|
rs782208544
|
0.00002
|
NM_003334.4(UBA1):c.2464+9_2464+16del
|
rs782707059
|
0.00002
|
NM_003334.4(UBA1):c.2465-17T>C
|
rs1354603007
|
0.00002
|
NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr)
|
rs1556793806
|
0.00002
|
NM_003334.4(UBA1):c.2724G>A (p.Glu908=)
|
rs376593996
|
0.00002
|
NM_003334.4(UBA1):c.2725C>T (p.Leu909=)
|
rs1268375603
|
0.00002
|
NM_003334.4(UBA1):c.2928C>T (p.Leu976=)
|
rs782070102
|
0.00002
|
NM_003334.4(UBA1):c.2940+4A>G
|
rs782751765
|
0.00002
|
NM_003334.4(UBA1):c.2949C>T (p.His983=)
|
rs139697760
|
0.00002
|
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu)
|
rs1185350232
|
0.00002
|
NM_003334.4(UBA1):c.3133G>A (p.Gly1045Ser)
|
rs782451807
|
0.00002
|
NM_003334.4(UBA1):c.3170T>G (p.Ile1057Ser)
|
rs1164940967
|
0.00002
|
NM_003334.4(UBA1):c.334C>T (p.Leu112Phe)
|
rs782536219
|
0.00002
|
NM_003334.4(UBA1):c.486G>A (p.Val162=)
|
rs370643219
|
0.00002
|
NM_003334.4(UBA1):c.499A>G (p.Thr167Ala)
|
rs781828163
|
0.00002
|
NM_003334.4(UBA1):c.575G>A (p.Arg192Gln)
|
rs782068633
|
0.00002
|
NM_003334.4(UBA1):c.687C>T (p.Pro229=)
|
rs782311444
|
0.00002
|
NM_003334.4(UBA1):c.741T>G (p.Phe247Leu)
|
rs1556788006
|
0.00002
|
NM_003334.4(UBA1):c.781G>A (p.Gly261Arg)
|
rs199512751
|
0.00002
|
NM_003334.4(UBA1):c.812-8C>T
|
rs1196797596
|
0.00002
|
NM_003334.4(UBA1):c.863G>A (p.Arg288His)
|
rs782554153
|
0.00002
|
NM_003334.4(UBA1):c.878G>A (p.Ser293Asn)
|
rs1365209491
|
0.00002
|
NM_003334.4(UBA1):c.910-7G>A
|
rs782321523
|
0.00002
|
NM_003334.4(UBA1):c.93C>T (p.Ser31=)
|
rs782703384
|
0.00002
|
NM_003334.4(UBA1):c.954G>A (p.Thr318=)
|
rs368506746
|
0.00002
|
NM_003384.3(VRK1):c.1065A>C (p.Thr355=)
|
rs765863043
|
0.00002
|
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)
|
rs184887106
|
0.00002
|
NM_003384.3(VRK1):c.1164A>C (p.Ser388=)
|
rs760801260
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala)
|
rs756589419
|
0.00002
|
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)
|
rs771269721
|
0.00002
|
NM_003384.3(VRK1):c.308G>A (p.Arg103His)
|
rs779386449
|
0.00002
|
NM_003384.3(VRK1):c.327T>G (p.Gly109=)
|
rs560242666
|
0.00002
|
NM_003384.3(VRK1):c.39C>T (p.Ser13=)
|
rs759767615
|
0.00002
|
NM_003384.3(VRK1):c.462C>T (p.Val154=)
|
rs757654085
|
0.00002
|
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu)
|
rs772889843
|
0.00002
|
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys)
|
rs376158712
|
0.00002
|
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val)
|
rs772122047
|
0.00002
|
NM_003900.5(SQSTM1):c.1165+15A>T
|
rs764410841
|
0.00002
|
NM_003900.5(SQSTM1):c.1166-1G>A
|
rs529512338
|
0.00002
|
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp)
|
rs539942101
|
0.00002
|
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=)
|
rs745585269
|
0.00002
|
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
|
rs757212984
|
0.00002
|
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)
|
rs779786150
|
0.00002
|
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser)
|
rs748555662
|
0.00002
|
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)
|
rs1302810798
|
0.00002
|
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=)
|
rs1449269769
|
0.00002
|
NM_003900.5(SQSTM1):c.216G>C (p.Gly72=)
|
rs757587948
|
0.00002
|
NM_003900.5(SQSTM1):c.234C>T (p.Ser78=)
|
rs746426826
|
0.00002
|
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe)
|
rs763040103
|
0.00002
|
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met)
|
rs181263868
|
0.00002
|
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val)
|
rs755702835
|
0.00002
|
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg)
|
rs748170760
|
0.00002
|
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys)
|
rs548787835
|
0.00002
|
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys)
|
rs750256905
|
0.00002
|
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp)
|
rs758625124
|
0.00002
|
NM_003900.5(SQSTM1):c.532-19C>T
|
rs368559255
|
0.00002
|
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)
|
rs567433223
|
0.00002
|
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met)
|
rs371832577
|
0.00002
|
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg)
|
rs368010261
|
0.00002
|
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=)
|
rs747314158
|
0.00002
|
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys)
|
rs769873457
|
0.00002
|
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)
|
rs762767720
|
0.00002
|
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)
|
rs769297000
|
0.00002
|
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro)
|
rs745853858
|
0.00002
|
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser)
|
rs1194274800
|
0.00002
|
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly)
|
rs148559402
|
0.00002
|
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu)
|
rs376459756
|
0.00002
|
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr)
|
rs1367793899
|
0.00002
|
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr)
|
rs777431896
|
0.00002
|
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu)
|
rs747589104
|
0.00002
|
NM_003900.5(SQSTM1):c.969+19C>T
|
rs566253151
|
0.00002
|
NM_004082.5(DCTN1):c.1082A>G (p.Lys361Arg)
|
rs1299296008
|
0.00002
|
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)
|
rs150368544
|
0.00002
|
NM_004082.5(DCTN1):c.1255G>A (p.Ala419Thr)
|
rs922032527
|
0.00002
|
NM_004082.5(DCTN1):c.1288-10C>T
|
rs72659375
|
0.00002
|
NM_004082.5(DCTN1):c.1398G>A (p.Ala466=)
|
rs371253917
|
0.00002
|
NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu)
|
rs773897036
|
0.00002
|
NM_004082.5(DCTN1):c.1561C>T (p.Arg521Cys)
|
rs756634587
|
0.00002
|
NM_004082.5(DCTN1):c.167A>G (p.Lys56Arg)
|
rs566433112
|
0.00002
|
NM_004082.5(DCTN1):c.1702-7C>T
|
rs554887316
|
0.00002
|
NM_004082.5(DCTN1):c.1802G>C (p.Gly601Ala)
|
rs370192633
|
0.00002
|
NM_004082.5(DCTN1):c.1926G>A (p.Leu642=)
|
rs758298791
|
0.00002
|
NM_004082.5(DCTN1):c.1947A>G (p.Gln649=)
|
rs756173900
|
0.00002
|
NM_004082.5(DCTN1):c.2006G>A (p.Arg669His)
|
rs140523637
|
0.00002
|
NM_004082.5(DCTN1):c.21C>T (p.His7=)
|
rs373040626
|
0.00002
|
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu)
|
rs751069902
|
0.00002
|
NM_004082.5(DCTN1):c.2290G>A (p.Val764Ile)
|
rs753618444
|
0.00002
|
NM_004082.5(DCTN1):c.2303G>A (p.Arg768His)
|
rs368869853
|
0.00002
|
NM_004082.5(DCTN1):c.2373C>T (p.Cys791=)
|
rs759688608
|
0.00002
|
NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys)
|
rs771231109
|
0.00002
|
NM_004082.5(DCTN1):c.246T>C (p.Asp82=)
|
rs1323483918
|
0.00002
|
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met)
|
rs766585070
|
0.00002
|
NM_004082.5(DCTN1):c.2544T>C (p.Ala848=)
|
rs1371265373
|
0.00002
|
NM_004082.5(DCTN1):c.2736T>C (p.Tyr912=)
|
rs72659381
|
0.00002
|
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)
|
rs771075973
|
0.00002
|
NM_004082.5(DCTN1):c.280-19A>G
|
rs747687955
|
0.00002
|
NM_004082.5(DCTN1):c.2814T>C (p.Ala938=)
|
rs1475285679
|
0.00002
|
NM_004082.5(DCTN1):c.2872T>G (p.Ser958Ala)
|
rs753405772
|
0.00002
|
NM_004082.5(DCTN1):c.2925C>T (p.Leu975=)
|
rs1185611985
|
0.00002
|
NM_004082.5(DCTN1):c.3030-11C>G
|
rs770969863
|
0.00002
|
NM_004082.5(DCTN1):c.3107G>A (p.Arg1036His)
|
rs762382952
|
0.00002
|
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp)
|
rs573012389
|
0.00002
|
NM_004082.5(DCTN1):c.317C>A (p.Pro106Gln)
|
rs1486314155
|
0.00002
|
NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val)
|
rs757034536
|
0.00002
|
NM_004082.5(DCTN1):c.33+9C>T
|
rs775298728
|
0.00002
|
NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys)
|
rs121909345
|
0.00002
|
NM_004082.5(DCTN1):c.3497C>T (p.Thr1166Met)
|
rs376549770
|
0.00002
|
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=)
|
rs146094433
|
0.00002
|
NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu)
|
rs975026607
|
0.00002
|
NM_004082.5(DCTN1):c.359-4A>G
|
rs754070367
|
0.00002
|
NM_004082.5(DCTN1):c.3699+16G>A
|
rs747490958
|
0.00002
|
NM_004082.5(DCTN1):c.36G>A (p.Thr12=)
|
rs1394864492
|
0.00002
|
NM_004082.5(DCTN1):c.3726A>G (p.Thr1242=)
|
rs377745224
|
0.00002
|
NM_004082.5(DCTN1):c.3810C>A (p.His1270Gln)
|
rs755013572
|
0.00002
|
NM_004082.5(DCTN1):c.3824G>A (p.Arg1275His)
|
rs560344779
|
0.00002
|
NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln)
|
rs753892865
|
0.00002
|
NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu)
|
rs763427780
|
0.00002
|
NM_004738.5(VAPB):c.*1563G>C
|
rs1049373137
|
0.00002
|
NM_004738.5(VAPB):c.*172A>C
|
rs757709521
|
0.00002
|
NM_004738.5(VAPB):c.*2885G>C
|
rs578172184
|
0.00002
|
NM_004738.5(VAPB):c.*3134G>T
|
rs886056818
|
0.00002
|
NM_004738.5(VAPB):c.*3493G>A
|
rs764048379
|
0.00002
|
NM_004738.5(VAPB):c.*436C>T
|
rs966052820
|
0.00002
|
NM_004738.5(VAPB):c.*5832G>A
|
rs886056833
|
0.00002
|
NM_004738.5(VAPB):c.199A>G (p.Ile67Val)
|
rs772975721
|
0.00002
|
NM_004738.5(VAPB):c.211+19G>A
|
rs1225492890
|
0.00002
|
NM_004738.5(VAPB):c.397-16A>G
|
rs767598860
|
0.00002
|
NM_004738.5(VAPB):c.465G>A (p.Lys155=)
|
rs779988555
|
0.00002
|
NM_004960.3(FUS):c.*1067G>C
|
rs1170967009
|
0.00002
|
NM_004960.3(FUS):c.*1225C>T
|
rs1183381896
|
0.00002
|
NM_004960.3(FUS):c.*1587G>A
|
rs1446005747
|
0.00002
|
NM_004960.3(FUS):c.*1593C>T
|
rs577955571
|
0.00002
|
NM_004960.3(FUS):c.*2288C>T
|
rs1418881668
|
0.00002
|
NM_004960.3(FUS):c.*3174T>G
|
rs3764324
|
0.00002
|
NM_004960.3(FUS):c.*3226G>A
|
rs1004430396
|
0.00002
|
NM_004960.3(FUS):c.*356G>A
|
rs886051940
|
0.00002
|
NM_004960.4(FUS):c.*10C>T
|
rs529269129
|
0.00002
|
NM_004960.4(FUS):c.1204_1206del (p.Ser402del)
|
rs781120756
|
0.00002
|
NM_004960.4(FUS):c.1452C>T (p.Tyr484=)
|
rs372721739
|
0.00002
|
NM_004960.4(FUS):c.238G>A (p.Gly80Ser)
|
rs776474571
|
0.00002
|
NM_004960.4(FUS):c.317C>T (p.Pro106Leu)
|
rs374191107
|
0.00002
|
NM_004960.4(FUS):c.443G>C (p.Ser148Thr)
|
rs773655049
|
0.00002
|
NM_004960.4(FUS):c.648C>T (p.Arg216=)
|
rs556586630
|
0.00002
|
NM_004960.4(FUS):c.716A>G (p.Tyr239Cys)
|
rs145013063
|
0.00002
|
NM_004960.4(FUS):c.90T>C (p.Ser30=)
|
rs1485377976
|
0.00002
|
NM_005022.4(PFN1):c.86C>T (p.Pro29Leu)
|
rs769909149
|
0.00002
|
NM_005235.3(ERBB4):c.1441A>G (p.Ile481Val)
|
rs368860175
|
0.00002
|
NM_005235.3(ERBB4):c.158A>G (p.Tyr53Cys)
|
rs756650586
|
0.00002
|
NM_005235.3(ERBB4):c.2518G>A (p.Val840Ile)
|
rs369248674
|
0.00002
|
NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg)
|
rs990147591
|
0.00002
|
NM_005866.4(SIGMAR1):c.339C>T (p.Ser113=)
|
rs754738945
|
0.00002
|
NM_005866.4(SIGMAR1):c.519C>T (p.Tyr173=)
|
rs761290005
|
0.00002
|
NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp)
|
rs780073328
|
0.00002
|
NM_005866.4(SIGMAR1):c.528C>T (p.Gly176=)
|
rs762524711
|
0.00002
|
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln)
|
rs192644838
|
0.00002
|
NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp)
|
rs532632647
|
0.00002
|
NM_006308.3(HSPB3):c.-17C>A
|
rs780916524
|
0.00002
|
NM_006308.3(HSPB3):c.316G>A (p.Glu106Lys)
|
rs761417751
|
0.00002
|
NM_006308.3(HSPB3):c.68G>A (p.Arg23Gln)
|
rs780119257
|
0.00002
|
NM_006736.6(DNAJB2):c.170C>G (p.Ser57Cys)
|
rs761058767
|
0.00002
|
NM_006736.6(DNAJB2):c.176A>G (p.Lys59Arg)
|
rs1367297130
|
0.00002
|
NM_006736.6(DNAJB2):c.230-15A>C
|
rs776440511
|
0.00002
|
NM_006736.6(DNAJB2):c.284C>A (p.Thr95Asn)
|
rs1314160406
|
0.00002
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
NM_006736.6(DNAJB2):c.360G>A (p.Leu120=)
|
rs748939785
|
0.00002
|
NM_006736.6(DNAJB2):c.368T>C (p.Phe123Ser)
|
rs757308369
|
0.00002
|
NM_006736.6(DNAJB2):c.411C>G (p.Phe137Leu)
|
rs770337874
|
0.00002
|
NM_006736.6(DNAJB2):c.455C>G (p.Ser152Cys)
|
rs777721164
|
0.00002
|
NM_006736.6(DNAJB2):c.544C>T (p.Arg182Cys)
|
rs1055176141
|
0.00002
|
NM_006736.6(DNAJB2):c.548+14C>T
|
rs893873016
|
0.00002
|
NM_006736.6(DNAJB2):c.548G>A (p.Arg183Lys)
|
rs369758068
|
0.00002
|
NM_006736.6(DNAJB2):c.549-9C>T
|
rs542308257
|
0.00002
|
NM_006736.6(DNAJB2):c.620-19G>A
|
rs1294521496
|
0.00002
|
NM_006736.6(DNAJB2):c.620-1G>A
|
rs764813110
|
0.00002
|
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=)
|
rs775630178
|
0.00002
|
NM_007046.4(EMILIN1):c.64G>A (p.Ala22Thr)
|
rs753862645
|
0.00002
|
NM_007126.5(VCP):c.120C>T (p.Ser40=)
|
rs775760970
|
0.00002
|
NM_007126.5(VCP):c.1494G>A (p.Glu498=)
|
rs775006879
|
0.00002
|
NM_007126.5(VCP):c.1569G>A (p.Gly523=)
|
rs748378458
|
0.00002
|
NM_007126.5(VCP):c.1863C>T (p.Gly621=)
|
rs376510669
|
0.00002
|
NM_007126.5(VCP):c.2109C>T (p.Ile703=)
|
rs543689812
|
0.00002
|
NM_007126.5(VCP):c.2161-4A>G
|
rs1260699314
|
0.00002
|
NM_007126.5(VCP):c.2161-6C>T
|
rs199513619
|
0.00002
|
NM_007126.5(VCP):c.2214A>G (p.Glu738=)
|
rs374391034
|
0.00002
|
NM_007126.5(VCP):c.2315+8G>C
|
rs561343814
|
0.00002
|
NM_007126.5(VCP):c.233C>G (p.Ser78Cys)
|
rs1252437282
|
0.00002
|
NM_007126.5(VCP):c.237T>A (p.Asp79Glu)
|
rs746810092
|
0.00002
|
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu)
|
rs1329151473
|
0.00002
|
NM_007126.5(VCP):c.330C>T (p.Tyr110=)
|
rs1259531489
|
0.00002
|
NM_007126.5(VCP):c.345T>C (p.His115=)
|
rs775348132
|
0.00002
|
NM_007126.5(VCP):c.446-5C>T
|
rs541980846
|
0.00002
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
0.00002
|
NM_007126.5(VCP):c.577-10C>T
|
rs778331428
|
0.00002
|
NM_007126.5(VCP):c.811+5G>C
|
rs1356010891
|
0.00002
|
NM_007126.5(VCP):c.812-7C>G
|
rs764429197
|
0.00002
|
NM_007375.4(TARDBP):c.*1795A>G
|
rs886045044
|
0.00002
|
NM_007375.4(TARDBP):c.*2334G>A
|
rs182302907
|
0.00002
|
NM_007375.4(TARDBP):c.*954A>G
|
rs1295153637
|
0.00002
|
NM_007375.4(TARDBP):c.1056T>C (p.Asn352=)
|
rs561479675
|
0.00002
|
NM_007375.4(TARDBP):c.238+9C>T
|
rs376560308
|
0.00002
|
NM_007375.4(TARDBP):c.963C>T (p.Ala321=)
|
rs547979470
|
0.00002
|
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln)
|
rs758357594
|
0.00002
|
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu)
|
rs748571947
|
0.00002
|
NM_013254.4(TBK1):c.1116A>G (p.Lys372=)
|
rs775134475
|
0.00002
|
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile)
|
rs1433610854
|
0.00002
|
NM_013254.4(TBK1):c.1485A>G (p.Leu495=)
|
rs771930992
|
0.00002
|
NM_013254.4(TBK1):c.1644-10C>T
|
rs926345096
|
0.00002
|
NM_013254.4(TBK1):c.1717C>T (p.Arg573Cys)
|
rs772820487
|
0.00002
|
NM_013254.4(TBK1):c.1751A>G (p.Lys584Arg)
|
rs375610142
|
0.00002
|
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys)
|
rs1366668789
|
0.00002
|
NM_013254.4(TBK1):c.802A>G (p.Ser268Gly)
|
rs746971642
|
0.00002
|
NM_013444.3(UBQLN2):c.-271G>C
|
rs1057515974
|
0.00002
|
NM_013444.3(UBQLN2):c.-272T>C
|
rs944115587
|
0.00002
|
NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile)
|
rs201549050
|
0.00002
|
NM_013444.4(UBQLN2):c.1455G>A (p.Leu485=)
|
rs1214760842
|
0.00002
|
NM_013444.4(UBQLN2):c.1474G>C (p.Val492Leu)
|
rs756653207
|
0.00002
|
NM_013444.4(UBQLN2):c.21C>G (p.Ser7Arg)
|
rs202132872
|
0.00002
|
NM_014043.4(CHMP2B):c.*1422G>A
|
rs572323799
|
0.00002
|
NM_014365.3(HSPB8):c.48G>A (p.Leu16=)
|
rs755586270
|
0.00002
|
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
|
rs776928002
|
0.00002
|
NM_014845.6(FIG4):c.2547-4A>G
|
rs886060985
|
0.00002
|
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
|
rs764958115
|
0.00002
|
NM_015046.7(SETX):c.*1442T>G
|
rs886063549
|
0.00002
|
NM_015046.7(SETX):c.*491G>A
|
rs1285017063
|
0.00002
|
NM_015046.7(SETX):c.*666C>G
|
rs886063551
|
0.00002
|
NM_015046.7(SETX):c.1099-12C>A
|
rs752063617
|
0.00002
|
NM_015046.7(SETX):c.1467C>T (p.Val489=)
|
rs142093830
|
0.00002
|
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)
|
rs779544809
|
0.00002
|
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp)
|
rs777081940
|
0.00002
|
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr)
|
rs769620847
|
0.00002
|
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala)
|
rs1481664998
|
0.00002
|
NM_015046.7(SETX):c.2395C>T (p.His799Tyr)
|
rs200459144
|
0.00002
|
NM_015046.7(SETX):c.2425A>G (p.Ile809Val)
|
rs906452681
|
0.00002
|
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp)
|
rs190841601
|
0.00002
|
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)
|
rs778882347
|
0.00002
|
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr)
|
rs765768857
|
0.00002
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
NM_015046.7(SETX):c.343C>G (p.Leu115Val)
|
rs538372427
|
0.00002
|
NM_015046.7(SETX):c.3450A>G (p.Glu1150=)
|
rs771495291
|
0.00002
|
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)
|
rs138167195
|
0.00002
|
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu)
|
rs773081186
|
0.00002
|
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile)
|
rs771168824
|
0.00002
|
NM_015046.7(SETX):c.4113A>G (p.Thr1371=)
|
rs750697305
|
0.00002
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
NM_015046.7(SETX):c.4334T>C (p.Val1445Ala)
|
rs759653127
|
0.00002
|
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)
|
rs747804357
|
0.00002
|
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr)
|
rs202047872
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
NM_015046.7(SETX):c.4683G>C (p.Gln1561His)
|
rs772991134
|
0.00002
|
NM_015046.7(SETX):c.477T>A (p.Phe159Leu)
|
rs1473646250
|
0.00002
|
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu)
|
rs368931174
|
0.00002
|
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
|
rs764316153
|
0.00002
|
NM_015046.7(SETX):c.5322G>T (p.Gln1774His)
|
rs771691157
|
0.00002
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
NM_015046.7(SETX):c.5502C>T (p.His1834=)
|
rs117410554
|
0.00002
|
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr)
|
rs749395151
|
0.00002
|
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)
|
rs200433173
|
0.00002
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu)
|
rs370368422
|
0.00002
|
NM_015046.7(SETX):c.5859A>G (p.Pro1953=)
|
rs1423165535
|
0.00002
|
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
|
rs759806045
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)
|
rs747913385
|
0.00002
|
NM_015046.7(SETX):c.7089C>T (p.Phe2363=)
|
rs141497098
|
0.00002
|
NM_015046.7(SETX):c.7287+9C>A
|
rs769170686
|
0.00002
|
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)
|
rs372535542
|
0.00002
|
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)
|
rs745394467
|
0.00002
|
NM_015046.7(SETX):c.855T>C (p.Pro285=)
|
rs141736312
|
0.00002
|
NM_015046.7(SETX):c.867G>A (p.Ala289=)
|
rs769799706
|
0.00002
|
NM_015046.7(SETX):c.895C>T (p.Arg299Cys)
|
rs777182592
|
0.00002
|
NM_015046.7(SETX):c.963C>T (p.Asn321=)
|
rs750254836
|
0.00002
|
NM_016042.4(EXOSC3):c.*194G>C
|
rs886063933
|
0.00002
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
NM_016042.4(EXOSC3):c.783G>A (p.Thr261=)
|
rs376325566
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016955.4(SEPSECS):c.*112T>C
|
rs886059353
|
0.00002
|
NM_016955.4(SEPSECS):c.*1659C>A
|
rs1356086552
|
0.00002
|
NM_016955.4(SEPSECS):c.*2250A>G
|
rs886059343
|
0.00002
|
NM_016955.4(SEPSECS):c.*327G>A
|
rs1179436290
|
0.00002
|
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter)
|
rs747732980
|
0.00002
|
NM_016955.4(SEPSECS):c.389-10T>C
|
rs777854893
|
0.00002
|
NM_016955.4(SEPSECS):c.389-1G>A
|
rs754373273
|
0.00002
|
NM_018325.5(C9orf72):c.*673T>C
|
rs886063835
|
0.00002
|
NM_018325.5(C9orf72):c.1210G>T (p.Val404Phe)
|
rs541965231
|
0.00002
|
NM_018834.6(MATR3):c.*1143G>A
|
rs1357784533
|
0.00002
|
NM_018834.6(MATR3):c.*2170T>G
|
rs1403800962
|
0.00002
|
NM_018834.6(MATR3):c.*262A>G
|
rs1378690022
|
0.00002
|
NM_018834.6(MATR3):c.1366A>G (p.Thr456Ala)
|
rs748098389
|
0.00002
|
NM_018834.6(MATR3):c.1479G>A (p.Glu493=)
|
rs751178653
|
0.00002
|
NM_018834.6(MATR3):c.1735-11T>C
|
rs200942842
|
0.00002
|
NM_018834.6(MATR3):c.1917A>G (p.Thr639=)
|
rs147164878
|
0.00002
|
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)
|
rs752161415
|
0.00002
|
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile)
|
rs201970174
|
0.00002
|
NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr)
|
rs1314919388
|
0.00002
|
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro)
|
rs772562504
|
0.00002
|
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr)
|
rs774158046
|
0.00002
|
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr)
|
rs749235364
|
0.00002
|
NM_018834.6(MATR3):c.531T>C (p.Asp177=)
|
rs367924183
|
0.00002
|
NM_018834.6(MATR3):c.620G>A (p.Arg207His)
|
rs749335257
|
0.00002
|
NM_018834.6(MATR3):c.657T>C (p.Tyr219=)
|
rs775810771
|
0.00002
|
NM_018834.6(MATR3):c.670T>C (p.Leu224=)
|
rs761066793
|
0.00002
|
NM_018834.6(MATR3):c.69G>A (p.Ala23=)
|
rs750693851
|
0.00002
|
NM_020631.5(PLEKHG5):c.*1006C>T
|
rs886046489
|
0.00002
|
NM_020631.5(PLEKHG5):c.*1354T>C
|
rs886046485
|
0.00002
|
NM_020631.5(PLEKHG5):c.*905G>A
|
rs886046490
|
0.00002
|
NM_020631.6(PLEKHG5):c.-54C>T
|
rs1056358234
|
0.00002
|
NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr)
|
rs754678569
|
0.00002
|
NM_020631.6(PLEKHG5):c.1293C>T (p.Leu431=)
|
rs758869678
|
0.00002
|
NM_020631.6(PLEKHG5):c.1356G>A (p.Leu452=)
|
rs775124601
|
0.00002
|
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val)
|
rs199839017
|
0.00002
|
NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met)
|
rs376903637
|
0.00002
|
NM_020631.6(PLEKHG5):c.1643A>G (p.Tyr548Cys)
|
rs749530565
|
0.00002
|
NM_020631.6(PLEKHG5):c.1715C>T (p.Ala572Val)
|
rs761560984
|
0.00002
|
NM_020631.6(PLEKHG5):c.1731C>T (p.Ala577=)
|
rs138441206
|
0.00002
|
NM_020631.6(PLEKHG5):c.1826C>T (p.Thr609Met)
|
rs553151077
|
0.00002
|
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met)
|
rs768944520
|
0.00002
|
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met)
|
rs397515456
|
0.00002
|
NM_020631.6(PLEKHG5):c.2017C>T (p.Arg673Cys)
|
rs747057331
|
0.00002
|
NM_020631.6(PLEKHG5):c.2049+9A>G
|
rs368743607
|
0.00002
|
NM_020631.6(PLEKHG5):c.2124G>A (p.Glu708=)
|
rs370521517
|
0.00002
|
NM_020631.6(PLEKHG5):c.2173G>A (p.Glu725Lys)
|
rs776282542
|
0.00002
|
NM_020631.6(PLEKHG5):c.2213T>A (p.Met738Lys)
|
rs1305950436
|
0.00002
|
NM_020631.6(PLEKHG5):c.2216G>A (p.Arg739Gln)
|
rs754583609
|
0.00002
|
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=)
|
rs147386989
|
0.00002
|
NM_020631.6(PLEKHG5):c.2391G>A (p.Thr797=)
|
rs1330946628
|
0.00002
|
NM_020631.6(PLEKHG5):c.2431C>T (p.Arg811Cys)
|
rs538561788
|
0.00002
|
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=)
|
rs759272412
|
0.00002
|
NM_020631.6(PLEKHG5):c.2505A>T (p.Pro835=)
|
rs201034547
|
0.00002
|
NM_020631.6(PLEKHG5):c.2524C>T (p.Arg842Trp)
|
rs770870023
|
0.00002
|
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=)
|
rs758214289
|
0.00002
|
NM_020631.6(PLEKHG5):c.2579G>A (p.Arg860His)
|
rs765235144
|
0.00002
|
NM_020631.6(PLEKHG5):c.2582G>A (p.Arg861His)
|
rs565558161
|
0.00002
|
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu)
|
rs772693344
|
0.00002
|
NM_020631.6(PLEKHG5):c.2811C>T (p.Ser937=)
|
rs1232546435
|
0.00002
|
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser)
|
rs573883242
|
0.00002
|
NM_020631.6(PLEKHG5):c.2838C>T (p.Ala946=)
|
rs573561537
|
0.00002
|
NM_020631.6(PLEKHG5):c.2856C>T (p.Ser952=)
|
rs759718802
|
0.00002
|
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys)
|
rs773530688
|
0.00002
|
NM_020631.6(PLEKHG5):c.2900G>T (p.Arg967Met)
|
rs376606416
|
0.00002
|
NM_020631.6(PLEKHG5):c.2932G>C (p.Ala978Pro)
|
rs368905339
|
0.00002
|
NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn)
|
rs769576836
|
0.00002
|
NM_020631.6(PLEKHG5):c.3012-12C>T
|
rs752907238
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-10C>T
|
rs201656051
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-11C>T
|
rs747418024
|
0.00002
|
NM_020631.6(PLEKHG5):c.477G>A (p.Gln159=)
|
rs373744190
|
0.00002
|
NM_020631.6(PLEKHG5):c.487G>A (p.Asp163Asn)
|
rs886471004
|
0.00002
|
NM_020631.6(PLEKHG5):c.733C>T (p.Arg245Trp)
|
rs766490061
|
0.00002
|
NM_020631.6(PLEKHG5):c.767C>T (p.Ser256Phe)
|
rs376782083
|
0.00002
|
NM_020631.6(PLEKHG5):c.795+13A>G
|
rs766753209
|
0.00002
|
NM_020631.6(PLEKHG5):c.796-4C>T
|
rs1315270235
|
0.00002
|
NM_020631.6(PLEKHG5):c.82C>T (p.Pro28Ser)
|
rs373539850
|
0.00002
|
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser)
|
rs373198302
|
0.00002
|
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly)
|
rs112657733
|
0.00002
|
NM_020631.6(PLEKHG5):c.903G>A (p.Glu301=)
|
rs780277728
|
0.00002
|
NM_020631.6(PLEKHG5):c.99C>T (p.Pro33=)
|
rs775878865
|
0.00002
|
NM_020919.4(ALS2):c.1251A>G (p.Ser417=)
|
rs750482532
|
0.00002
|
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn)
|
rs886055454
|
0.00002
|
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met)
|
rs781051642
|
0.00002
|
NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys)
|
rs149670991
|
0.00002
|
NM_020919.4(ALS2):c.339C>T (p.Tyr113=)
|
rs370824570
|
0.00002
|
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)
|
rs767350733
|
0.00002
|
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)
|
rs201132615
|
0.00002
|
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)
|
rs758280554
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_021625.5(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831
|
0.00002
|
NM_021815.5(SLC5A7):c.1113+6A>G
|
rs766515861
|
0.00002
|
NM_021815.5(SLC5A7):c.1132G>A (p.Val378Ile)
|
rs763020957
|
0.00002
|
NM_021815.5(SLC5A7):c.1246G>A (p.Val416Ile)
|
rs759833850
|
0.00002
|
NM_021815.5(SLC5A7):c.1487A>G (p.Tyr496Cys)
|
rs1001889637
|
0.00002
|
NM_021815.5(SLC5A7):c.1630C>T (p.Leu544Phe)
|
rs780371731
|
0.00002
|
NM_021815.5(SLC5A7):c.1731T>C (p.Asp577=)
|
rs766941461
|
0.00002
|
NM_021815.5(SLC5A7):c.180T>C (p.Ala60=)
|
rs146871193
|
0.00002
|
NM_021815.5(SLC5A7):c.472G>A (p.Asp158Asn)
|
rs768776054
|
0.00002
|
NM_021815.5(SLC5A7):c.568G>A (p.Val190Ile)
|
rs541031936
|
0.00002
|
NM_021815.5(SLC5A7):c.597+7G>A
|
rs377267197
|
0.00002
|
NM_025137.4(SPG11):c.206C>T (p.Thr69Met)
|
rs764422997
|
0.00002
|
NM_025137.4(SPG11):c.2306G>A (p.Arg769His)
|
rs368151745
|
0.00002
|
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val)
|
rs758923470
|
0.00002
|
NM_025137.4(SPG11):c.3095C>T (p.Pro1032Leu)
|
rs141106870
|
0.00002
|
NM_025137.4(SPG11):c.4122C>T (p.Phe1374=)
|
rs1194478318
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln)
|
rs768303307
|
0.00002
|
NM_025137.4(SPG11):c.6013G>A (p.Gly2005Ser)
|
rs776764189
|
0.00002
|
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr)
|
rs199873327
|
0.00002
|
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His)
|
rs766384717
|
0.00002
|
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His)
|
rs768408465
|
0.00002
|
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu)
|
rs748206574
|
0.00002
|
NM_025137.4(SPG11):c.732C>T (p.Asp244=)
|
rs745572647
|
0.00002
|
NM_025137.4(SPG11):c.737G>A (p.Cys246Tyr)
|
rs376828731
|
0.00002
|
NM_025137.4(SPG11):c.820G>A (p.Val274Ile)
|
rs543316224
|
0.00002
|
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)
|
rs755246924
|
0.00002
|
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser)
|
rs202056552
|
0.00002
|
NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala)
|
rs779888892
|
0.00002
|
NM_177924.5(ASAH1):c.784A>T (p.Ser262Cys)
|
rs781103974
|
0.00002
|
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)
|
rs200881798
|
0.00002
|
NM_205836.3(FBXO38):c.1528G>A (p.Asp510Asn)
|
rs187292361
|
0.00002
|
NM_205836.3(FBXO38):c.1540C>T (p.His514Tyr)
|
rs191831422
|
0.00002
|
NM_205836.3(FBXO38):c.1618G>A (p.Ala540Thr)
|
rs779438870
|
0.00002
|
NM_205836.3(FBXO38):c.1711C>T (p.Pro571Ser)
|
rs766059420
|
0.00002
|
NM_205836.3(FBXO38):c.1759G>A (p.Val587Ile)
|
rs553996394
|
0.00002
|
NM_205836.3(FBXO38):c.1777A>G (p.Ile593Val)
|
rs780773753
|
0.00002
|
NM_205836.3(FBXO38):c.1918+11G>A
|
rs746955866
|
0.00002
|
NM_205836.3(FBXO38):c.1985A>G (p.Gln662Arg)
|
rs748950456
|
0.00002
|
NM_205836.3(FBXO38):c.2211C>T (p.Ser737=)
|
rs145527741
|
0.00002
|
NM_205836.3(FBXO38):c.2234A>T (p.Asp745Val)
|
rs145266253
|
0.00002
|
NM_205836.3(FBXO38):c.2303C>G (p.Ala768Gly)
|
rs142129179
|
0.00002
|
NM_205836.3(FBXO38):c.2424G>A (p.Pro808=)
|
rs1333921499
|
0.00002
|
NM_205836.3(FBXO38):c.2679C>T (p.His893=)
|
rs747893527
|
0.00002
|
NM_205836.3(FBXO38):c.2689C>T (p.Arg897Trp)
|
rs138967647
|
0.00002
|
NM_205836.3(FBXO38):c.2858-18A>G
|
rs376871117
|
0.00002
|
NM_205836.3(FBXO38):c.3047A>G (p.Gln1016Arg)
|
rs1020465041
|
0.00002
|
NM_205836.3(FBXO38):c.3130C>T (p.Arg1044Cys)
|
rs1269391994
|
0.00002
|
NM_205836.3(FBXO38):c.3362G>A (p.Arg1121Gln)
|
rs149713669
|
0.00002
|
NM_205836.3(FBXO38):c.3504A>G (p.Val1168=)
|
rs750597830
|
0.00002
|
NM_205836.3(FBXO38):c.506G>A (p.Arg169His)
|
rs771708027
|
0.00002
|
NM_205836.3(FBXO38):c.625A>G (p.Met209Val)
|
rs778733611
|
0.00002
|
NM_205836.3(FBXO38):c.69A>G (p.Ala23=)
|
rs141470888
|
0.00002
|
NM_205836.3(FBXO38):c.91A>C (p.Asn31His)
|
rs112086763
|
0.00002
|
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)
|
rs774157225
|
0.00002
|
NM_207346.3(TSEN54):c.808C>T (p.Pro270Ser)
|
rs758853965
|
0.00002
|
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala)
|
rs1287389347
|
0.00002
|
NM_213720.3(CHCHD10):c.153G>T (p.Thr51=)
|
rs772927642
|
0.00002
|
NM_213720.3(CHCHD10):c.262-7C>T
|
rs533095236
|
0.00002
|
NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro)
|
rs889489701
|
0.00002
|
NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu)
|
rs766426370
|
0.00002
|
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=)
|
rs374656309
|
0.00001
|
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr)
|
rs368982547
|
0.00001
|
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser)
|
rs1557231866
|
0.00001
|
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val)
|
rs1349223430
|
0.00001
|
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=)
|
rs147225045
|
0.00001
|
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=)
|
rs782744809
|
0.00001
|
NM_000052.7(ATP7A):c.121-12T>C
|
rs1557231556
|
0.00001
|
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val)
|
rs782815622
|
0.00001
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr)
|
rs1557231909
|
0.00001
|
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser)
|
rs782505393
|
0.00001
|
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe)
|
rs782635238
|
0.00001
|
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly)
|
rs782530774
|
0.00001
|
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly)
|
rs2077660217
|
0.00001
|
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met)
|
rs782018636
|
0.00001
|
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=)
|
rs143036870
|
0.00001
|
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=)
|
rs782148279
|
0.00001
|
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
|
rs377651753
|
0.00001
|
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
|
rs1227094533
|
0.00001
|
NM_000052.7(ATP7A):c.1337-5A>G
|
rs371146030
|
0.00001
|
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=)
|
rs782292643
|
0.00001
|
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu)
|
rs1557232786
|
0.00001
|
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)
|
rs781964005
|
0.00001
|
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala)
|
rs782416233
|
0.00001
|
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)
|
rs1557231562
|
0.00001
|
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly)
|
rs781834607
|
0.00001
|
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)
|
rs781874593
|
0.00001
|
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)
|
rs1193696385
|
0.00001
|
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=)
|
rs782495317
|
0.00001
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
|
rs368355216
|
0.00001
|
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly)
|
rs1557233359
|
0.00001
|
NM_000052.7(ATP7A):c.1590A>G (p.Val530=)
|
rs1557233367
|
0.00001
|
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=)
|
rs1056057247
|
0.00001
|
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln)
|
rs782491733
|
0.00001
|
NM_000052.7(ATP7A):c.168A>G (p.Leu56=)
|
rs782612734
|
0.00001
|
NM_000052.7(ATP7A):c.1707+16T>C
|
rs1557233398
|
0.00001
|
NM_000052.7(ATP7A):c.1708-9C>G
|
rs1557234077
|
0.00001
|
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg)
|
rs1569549834
|
0.00001
|
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)
|
rs371777895
|
0.00001
|
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val)
|
rs375103934
|
0.00001
|
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His)
|
rs782764596
|
0.00001
|
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu)
|
rs781872960
|
0.00001
|
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val)
|
rs1318638094
|
0.00001
|
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly)
|
rs782528311
|
0.00001
|
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg)
|
rs782396059
|
0.00001
|
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=)
|
rs782299586
|
0.00001
|
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=)
|
rs782315947
|
0.00001
|
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)
|
rs1557234412
|
0.00001
|
NM_000052.7(ATP7A):c.1946+11T>C
|
rs1557234428
|
0.00001
|
NM_000052.7(ATP7A):c.1947-5A>G
|
rs1557234466
|
0.00001
|
NM_000052.7(ATP7A):c.1947-7A>G
|
rs2077824853
|
0.00001
|
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)
|
rs879254156
|
0.00001
|
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn)
|
rs782629836
|
0.00001
|
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu)
|
rs781792854
|
0.00001
|
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)
|
rs782455461
|
0.00001
|
NM_000052.7(ATP7A):c.204C>T (p.Asp68=)
|
rs1557231573
|
0.00001
|
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu)
|
rs1557234510
|
0.00001
|
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)
|
rs944415019
|
0.00001
|
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=)
|
rs1318545869
|
0.00001
|
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
|
rs2234936
|
0.00001
|
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=)
|
rs782037158
|
0.00001
|
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val)
|
rs1557234537
|
0.00001
|
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu)
|
rs1557234543
|
0.00001
|
NM_000052.7(ATP7A):c.219T>C (p.Ala73=)
|
rs1557231581
|
0.00001
|
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu)
|
rs782240491
|
0.00001
|
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr)
|
rs782389012
|
0.00001
|
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn)
|
rs782293297
|
0.00001
|
NM_000052.7(ATP7A):c.2253G>A (p.Val751=)
|
rs782375469
|
0.00001
|
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val)
|
rs1157086859
|
0.00001
|
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val)
|
rs1557234739
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)
|
rs2077837721
|
0.00001
|
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp)
|
rs1443260520
|
0.00001
|
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=)
|
rs2077838145
|
0.00001
|
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=)
|
rs1557234754
|
0.00001
|
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val)
|
rs782770209
|
0.00001
|
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)
|
rs1557234931
|
0.00001
|
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=)
|
rs781953495
|
0.00001
|
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=)
|
rs368261204
|
0.00001
|
NM_000052.7(ATP7A):c.2499-9T>C
|
rs1557235070
|
0.00001
|
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=)
|
rs1420350554
|
0.00001
|
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=)
|
rs781950120
|
0.00001
|
NM_000052.7(ATP7A):c.255T>C (p.Thr85=)
|
rs1557231589
|
0.00001
|
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=)
|
rs1557235088
|
0.00001
|
NM_000052.7(ATP7A):c.2573T>G (p.Val858Gly)
|
rs782094714
|
0.00001
|
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys)
|
rs781892236
|
0.00001
|
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=)
|
rs1557235097
|
0.00001
|
NM_000052.7(ATP7A):c.2627-17C>T
|
rs782200911
|
0.00001
|
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg)
|
rs1324162252
|
0.00001
|
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=)
|
rs781928048
|
0.00001
|
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=)
|
rs1557235606
|
0.00001
|
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=)
|
rs1396353749
|
0.00001
|
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile)
|
rs369335432
|
0.00001
|
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=)
|
rs1557235619
|
0.00001
|
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg)
|
rs1557235625
|
0.00001
|
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu)
|
rs782225818
|
0.00001
|
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr)
|
rs782807828
|
0.00001
|
NM_000052.7(ATP7A):c.2865A>G (p.Val955=)
|
rs1557235728
|
0.00001
|
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys)
|
rs1557235740
|
0.00001
|
NM_000052.7(ATP7A):c.2917-7T>C
|
rs376898023
|
0.00001
|
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp)
|
rs1557236695
|
0.00001
|
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)
|
rs1557236698
|
0.00001
|
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala)
|
rs1023683992
|
0.00001
|
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln)
|
rs781995242
|
0.00001
|
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala)
|
rs782480109
|
0.00001
|
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val)
|
rs1341604631
|
0.00001
|
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)
|
rs181435872
|
0.00001
|
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=)
|
rs371089220
|
0.00001
|
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)
|
rs1057518370
|
0.00001
|
NM_000052.7(ATP7A):c.318A>G (p.Thr106=)
|
rs781851530
|
0.00001
|
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=)
|
rs2077983590
|
0.00001
|
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=)
|
rs1557237065
|
0.00001
|
NM_000052.7(ATP7A):c.3294+10T>A
|
rs2077984363
|
0.00001
|
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser)
|
rs782066060
|
0.00001
|
NM_000052.7(ATP7A):c.330C>A (p.Thr110=)
|
rs1557231608
|
0.00001
|
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn)
|
rs782548907
|
0.00001
|
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly)
|
rs782154314
|
0.00001
|
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg)
|
rs782486797
|
0.00001
|
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val)
|
rs371409820
|
0.00001
|
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly)
|
rs1363235909
|
0.00001
|
NM_000052.7(ATP7A):c.3463G>C (p.Glu1155Gln)
|
rs2077996609
|
0.00001
|
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp)
|
rs781907456
|
0.00001
|
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln)
|
rs782435305
|
0.00001
|
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=)
|
rs1391918882
|
0.00001
|
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)
|
rs782026169
|
0.00001
|
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=)
|
rs782173299
|
0.00001
|
NM_000052.7(ATP7A):c.3659-5A>G
|
rs1557238245
|
0.00001
|
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
|
rs782664232
|
0.00001
|
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=)
|
rs1557238252
|
0.00001
|
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)
|
rs1557238254
|
0.00001
|
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile)
|
rs962646396
|
0.00001
|
NM_000052.7(ATP7A):c.3802-9A>G
|
rs1557238565
|
0.00001
|
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=)
|
rs895520660
|
0.00001
|
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile)
|
rs782499160
|
0.00001
|
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu)
|
rs782628250
|
0.00001
|
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=)
|
rs782582761
|
0.00001
|
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=)
|
rs781872987
|
0.00001
|
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=)
|
rs1569550333
|
0.00001
|
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=)
|
rs1271447006
|
0.00001
|
NM_000052.7(ATP7A):c.4005+10A>G
|
rs782188201
|
0.00001
|
NM_000052.7(ATP7A):c.4006-11T>A
|
rs1325784914
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln)
|
rs782260602
|
0.00001
|
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val)
|
rs782161783
|
0.00001
|
NM_000052.7(ATP7A):c.4136C>T (p.Pro1379Leu)
|
rs1557238990
|
0.00001
|
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=)
|
rs781939808
|
0.00001
|
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu)
|
rs1557231629
|
0.00001
|
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser)
|
rs189818149
|
0.00001
|
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=)
|
rs782505602
|
0.00001
|
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=)
|
rs2078077936
|
0.00001
|
NM_000052.7(ATP7A):c.4227-12del
|
rs1557239080
|
0.00001
|
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=)
|
rs990337633
|
0.00001
|
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
|
rs368091927
|
0.00001
|
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=)
|
rs1569550372
|
0.00001
|
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg)
|
rs1557239111
|
0.00001
|
NM_000052.7(ATP7A):c.4311T>C (p.His1437=)
|
rs782541211
|
0.00001
|
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp)
|
rs1557239117
|
0.00001
|
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)
|
rs1457236338
|
0.00001
|
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His)
|
rs782272603
|
0.00001
|
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
|
rs782062633
|
0.00001
|
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His)
|
rs1204475767
|
0.00001
|
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys)
|
rs1557239144
|
0.00001
|
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)
|
rs782799150
|
0.00001
|
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=)
|
rs1557239148
|
0.00001
|
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=)
|
rs782053901
|
0.00001
|
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu)
|
rs782716555
|
0.00001
|
NM_000052.7(ATP7A):c.488A>G (p.His163Arg)
|
rs1164298315
|
0.00001
|
NM_000052.7(ATP7A):c.498T>C (p.Ala166=)
|
rs782701351
|
0.00001
|
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp)
|
rs782485590
|
0.00001
|
NM_000052.7(ATP7A):c.513C>T (p.Val171=)
|
rs782643553
|
0.00001
|
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)
|
rs782248978
|
0.00001
|
NM_000052.7(ATP7A):c.531G>A (p.Val177=)
|
rs1557231650
|
0.00001
|
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys)
|
rs782675275
|
0.00001
|
NM_000052.7(ATP7A):c.548A>G (p.His183Arg)
|
rs1186296000
|
0.00001
|
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro)
|
rs1557231656
|
0.00001
|
NM_000052.7(ATP7A):c.579T>A (p.Ile193=)
|
rs2077652795
|
0.00001
|
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser)
|
rs1557231670
|
0.00001
|
NM_000052.7(ATP7A):c.611-4C>T
|
rs1287080060
|
0.00001
|
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile)
|
rs1557231734
|
0.00001
|
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys)
|
rs374855698
|
0.00001
|
NM_000052.7(ATP7A):c.807G>A (p.Arg269=)
|
rs868946047
|
0.00001
|
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)
|
rs782146244
|
0.00001
|
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu)
|
rs1039952708
|
0.00001
|
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg)
|
rs782449900
|
0.00001
|
NM_000052.7(ATP7A):c.933T>C (p.Ser311=)
|
rs782638418
|
0.00001
|
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=)
|
rs1557231829
|
0.00001
|
NM_000344.4(SMN1):c.835-3C>T
|
rs772466166
|
0.00001
|
NM_000344.4(SMN1):c.840C>T (p.Phe280=)
|
rs1164325688
|
0.00001
|
NM_000454.5(SOD1):c.159T>C (p.Asp53=)
|
rs1276917683
|
0.00001
|
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)
|
rs1030039318
|
0.00001
|
NM_000454.5(SOD1):c.216C>T (p.His72=)
|
rs368042695
|
0.00001
|
NM_000454.5(SOD1):c.240-16G>A
|
rs779802862
|
0.00001
|
NM_000454.5(SOD1):c.269C>T (p.Ala90Val)
|
rs1280042397
|
0.00001
|
NM_000454.5(SOD1):c.27G>A (p.Leu9=)
|
rs772764888
|
0.00001
|
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr)
|
rs567432143
|
0.00001
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
NM_000454.5(SOD1):c.358-10T>G
|
rs1197141604
|
0.00001
|
NM_000454.5(SOD1):c.358-11A>G
|
rs369600566
|
0.00001
|
NM_000454.5(SOD1):c.358G>C (p.Val120Leu)
|
rs1457889952
|
0.00001
|
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)
|
rs1424014997
|
0.00001
|
NM_000454.5(SOD1):c.72+13A>G
|
rs754347852
|
0.00001
|
NM_000743.5(CHRNA3):c.1A>G (p.Met1Val)
|
rs2053539304
|
0.00001
|
NM_001003800.2(BICD2):c.1002C>T (p.Ser334=)
|
rs1403546969
|
0.00001
|
NM_001003800.2(BICD2):c.1024A>G (p.Ile342Val)
|
rs777795062
|
0.00001
|
NM_001003800.2(BICD2):c.1026C>T (p.Ile342=)
|
rs377363410
|
0.00001
|
NM_001003800.2(BICD2):c.1080G>A (p.Ala360=)
|
rs776734115
|
0.00001
|
NM_001003800.2(BICD2):c.1095G>A (p.Thr365=)
|
rs772489772
|
0.00001
|
NM_001003800.2(BICD2):c.1165C>T (p.Arg389Cys)
|
rs766132361
|
0.00001
|
NM_001003800.2(BICD2):c.1166G>A (p.Arg389His)
|
rs762910297
|
0.00001
|
NM_001003800.2(BICD2):c.1195C>T (p.Arg399Cys)
|
rs200542458
|
0.00001
|
NM_001003800.2(BICD2):c.1196G>A (p.Arg399His)
|
rs372251238
|
0.00001
|
NM_001003800.2(BICD2):c.1211A>G (p.Lys404Arg)
|
rs754667036
|
0.00001
|
NM_001003800.2(BICD2):c.1212G>A (p.Lys404=)
|
rs1024172888
|
0.00001
|
NM_001003800.2(BICD2):c.1233C>T (p.Asp411=)
|
rs1263910742
|
0.00001
|
NM_001003800.2(BICD2):c.132C>G (p.Ala44=)
|
rs1431463618
|
0.00001
|
NM_001003800.2(BICD2):c.133G>C (p.Glu45Gln)
|
rs776420993
|
0.00001
|
NM_001003800.2(BICD2):c.1371C>T (p.Arg457=)
|
rs770158042
|
0.00001
|
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met)
|
rs777065935
|
0.00001
|
NM_001003800.2(BICD2):c.1407G>A (p.Glu469=)
|
rs1853403291
|
0.00001
|
NM_001003800.2(BICD2):c.1445C>T (p.Thr482Met)
|
rs761146388
|
0.00001
|
NM_001003800.2(BICD2):c.1500C>T (p.Ala500=)
|
rs1275858663
|
0.00001
|
NM_001003800.2(BICD2):c.1502G>A (p.Arg501Gln)
|
rs398123032
|
0.00001
|
NM_001003800.2(BICD2):c.1533C>T (p.Asp511=)
|
rs773725679
|
0.00001
|
NM_001003800.2(BICD2):c.1542C>T (p.Gly514=)
|
rs1240963153
|
0.00001
|
NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile)
|
rs940304129
|
0.00001
|
NM_001003800.2(BICD2):c.1590C>A (p.Phe530Leu)
|
rs1472200920
|
0.00001
|
NM_001003800.2(BICD2):c.162G>C (p.Lys54Asn)
|
rs779949554
|
0.00001
|
NM_001003800.2(BICD2):c.165C>A (p.His55Gln)
|
rs150915279
|
0.00001
|
NM_001003800.2(BICD2):c.1675G>A (p.Glu559Lys)
|
rs759941912
|
0.00001
|
NM_001003800.2(BICD2):c.1686C>T (p.Gly562=)
|
rs369522942
|
0.00001
|
NM_001003800.2(BICD2):c.1693G>A (p.Gly565Ser)
|
rs1302642659
|
0.00001
|
NM_001003800.2(BICD2):c.1708G>A (p.Gly570Arg)
|
rs1478607428
|
0.00001
|
NM_001003800.2(BICD2):c.1733G>A (p.Arg578His)
|
rs776528966
|
0.00001
|
NM_001003800.2(BICD2):c.1770G>A (p.Leu590=)
|
rs1347133721
|
0.00001
|
NM_001003800.2(BICD2):c.1777C>T (p.Pro593Ser)
|
rs1375372433
|
0.00001
|
NM_001003800.2(BICD2):c.1790G>A (p.Arg597Gln)
|
rs1412401979
|
0.00001
|
NM_001003800.2(BICD2):c.1804A>G (p.Thr602Ala)
|
rs941771966
|
0.00001
|
NM_001003800.2(BICD2):c.185A>C (p.Glu62Ala)
|
rs935505713
|
0.00001
|
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp)
|
rs1445290655
|
0.00001
|
NM_001003800.2(BICD2):c.1886A>G (p.Asn629Ser)
|
rs768918778
|
0.00001
|
NM_001003800.2(BICD2):c.1940G>A (p.Arg647His)
|
rs774220760
|
0.00001
|
NM_001003800.2(BICD2):c.1975C>G (p.Gln659Glu)
|
rs748802657
|
0.00001
|
NM_001003800.2(BICD2):c.1990G>A (p.Ala664Thr)
|
rs752300430
|
0.00001
|
NM_001003800.2(BICD2):c.1992C>T (p.Ala664=)
|
rs767316412
|
0.00001
|
NM_001003800.2(BICD2):c.2008G>A (p.Glu670Lys)
|
rs372899268
|
0.00001
|
NM_001003800.2(BICD2):c.2013G>A (p.Ala671=)
|
rs552216061
|
0.00001
|
NM_001003800.2(BICD2):c.2028C>T (p.Ile676=)
|
rs370600458
|
0.00001
|
NM_001003800.2(BICD2):c.2031C>T (p.Leu677=)
|
rs1321291810
|
0.00001
|
NM_001003800.2(BICD2):c.203A>G (p.Tyr68Cys)
|
rs141519259
|
0.00001
|
NM_001003800.2(BICD2):c.2043G>A (p.Ser681=)
|
rs746297393
|
0.00001
|
NM_001003800.2(BICD2):c.2107-7C>A
|
rs757247225
|
0.00001
|
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)
|
rs371707778
|
0.00001
|
NM_001003800.2(BICD2):c.2145T>C (p.Tyr715=)
|
rs1042399429
|
0.00001
|
NM_001003800.2(BICD2):c.2169C>T (p.Thr723=)
|
rs770335133
|
0.00001
|
NM_001003800.2(BICD2):c.2196G>A (p.Glu732=)
|
rs367722713
|
0.00001
|
NM_001003800.2(BICD2):c.2218G>A (p.Ala740Thr)
|
rs1210812038
|
0.00001
|
NM_001003800.2(BICD2):c.222G>A (p.Glu74=)
|
rs138918080
|
0.00001
|
NM_001003800.2(BICD2):c.2258+11T>C
|
rs929825881
|
0.00001
|
NM_001003800.2(BICD2):c.2258+6C>T
|
rs566572599
|
0.00001
|
NM_001003800.2(BICD2):c.2259G>A (p.Arg753=)
|
rs921619761
|
0.00001
|
NM_001003800.2(BICD2):c.2272A>G (p.Ile758Val)
|
rs766894803
|
0.00001
|
NM_001003800.2(BICD2):c.2306C>T (p.Ala769Val)
|
rs773121830
|
0.00001
|
NM_001003800.2(BICD2):c.2307G>A (p.Ala769=)
|
rs573705109
|
0.00001
|
NM_001003800.2(BICD2):c.2334G>A (p.Leu778=)
|
rs950657224
|
0.00001
|
NM_001003800.2(BICD2):c.2339C>T (p.Ser780Leu)
|
rs377454040
|
0.00001
|
NM_001003800.2(BICD2):c.2347C>T (p.Arg783Cys)
|
rs144944522
|
0.00001
|
NM_001003800.2(BICD2):c.2373G>A (p.Ala791=)
|
rs572517685
|
0.00001
|
NM_001003800.2(BICD2):c.2384G>A (p.Arg795Gln)
|
rs1473987839
|
0.00001
|
NM_001003800.2(BICD2):c.2419C>T (p.Arg807Trp)
|
rs778940849
|
0.00001
|
NM_001003800.2(BICD2):c.2428C>T (p.Arg810Cys)
|
rs778218322
|
0.00001
|
NM_001003800.2(BICD2):c.2468G>A (p.Ser823Asn)
|
rs1853279588
|
0.00001
|
NM_001003800.2(BICD2):c.2500A>G (p.Arg834Gly)
|
rs755577434
|
0.00001
|
NM_001003800.2(BICD2):c.2542G>A (p.Glu848Lys)
|
rs766447651
|
0.00001
|
NM_001003800.2(BICD2):c.286G>A (p.Gly96Arg)
|
rs749242497
|
0.00001
|
NM_001003800.2(BICD2):c.295C>T (p.Arg99Trp)
|
rs751756270
|
0.00001
|
NM_001003800.2(BICD2):c.321G>A (p.Ser107=)
|
rs750735477
|
0.00001
|
NM_001003800.2(BICD2):c.354G>A (p.Val118=)
|
rs1853628487
|
0.00001
|
NM_001003800.2(BICD2):c.369G>A (p.Thr123=)
|
rs200399010
|
0.00001
|
NM_001003800.2(BICD2):c.389A>G (p.Asn130Ser)
|
rs142827536
|
0.00001
|
NM_001003800.2(BICD2):c.404C>T (p.Thr135Met)
|
rs758588310
|
0.00001
|
NM_001003800.2(BICD2):c.411G>A (p.Ser137=)
|
rs201096970
|
0.00001
|
NM_001003800.2(BICD2):c.440A>G (p.Gln147Arg)
|
rs764759240
|
0.00001
|
NM_001003800.2(BICD2):c.454-4A>G
|
rs1379719399
|
0.00001
|
NM_001003800.2(BICD2):c.510C>T (p.Tyr170=)
|
rs1330116801
|
0.00001
|
NM_001003800.2(BICD2):c.527G>T (p.Arg176Leu)
|
rs1207286970
|
0.00001
|
NM_001003800.2(BICD2):c.531G>C (p.Leu177=)
|
rs1057523240
|
0.00001
|
NM_001003800.2(BICD2):c.54G>A (p.Gln18=)
|
rs746869464
|
0.00001
|
NM_001003800.2(BICD2):c.591G>A (p.Val197=)
|
rs41316958
|
0.00001
|
NM_001003800.2(BICD2):c.606+7C>G
|
rs1164296084
|
0.00001
|
NM_001003800.2(BICD2):c.657C>T (p.Thr219=)
|
rs934722432
|
0.00001
|
NM_001003800.2(BICD2):c.723G>A (p.Glu241=)
|
rs1320353578
|
0.00001
|
NM_001003800.2(BICD2):c.733G>A (p.Glu245Lys)
|
rs371897802
|
0.00001
|
NM_001003800.2(BICD2):c.747G>A (p.Thr249=)
|
rs145083783
|
0.00001
|
NM_001003800.2(BICD2):c.748G>C (p.Glu250Gln)
|
rs369847588
|
0.00001
|
NM_001003800.2(BICD2):c.78G>A (p.Val26=)
|
rs752899435
|
0.00001
|
NM_001003800.2(BICD2):c.816C>T (p.Tyr272=)
|
rs368490787
|
0.00001
|
NM_001003800.2(BICD2):c.837G>A (p.Ser279=)
|
rs141444039
|
0.00001
|
NM_001003800.2(BICD2):c.878A>G (p.Asn293Ser)
|
rs767895612
|
0.00001
|
NM_001003800.2(BICD2):c.889G>A (p.Glu297Lys)
|
rs770331418
|
0.00001
|
NM_001003800.2(BICD2):c.927C>T (p.Ala309=)
|
rs780098431
|
0.00001
|
NM_001003800.2(BICD2):c.956C>T (p.Thr319Met)
|
rs753891194
|
0.00001
|
NM_001003800.2(BICD2):c.969G>A (p.Glu323=)
|
rs752952319
|
0.00001
|
NM_001003800.2(BICD2):c.975C>T (p.Leu325=)
|
rs368131334
|
0.00001
|
NM_001003800.2(BICD2):c.980C>T (p.Pro327Leu)
|
rs772728967
|
0.00001
|
NM_001003800.2(BICD2):c.986C>A (p.Ser329Tyr)
|
rs761526161
|
0.00001
|
NM_001008212.2(OPTN):c.*1111A>C
|
rs962236225
|
0.00001
|
NM_001008212.2(OPTN):c.*222G>C
|
rs1451563043
|
0.00001
|
NM_001008212.2(OPTN):c.*306G>A
|
rs538280633
|
0.00001
|
NM_001008212.2(OPTN):c.*335C>T
|
rs1251482519
|
0.00001
|
NM_001008212.2(OPTN):c.-272G>T
|
rs886046817
|
0.00001
|
NM_001008212.2(OPTN):c.-274C>A
|
rs552494483
|
0.00001
|
NM_001008212.2(OPTN):c.1038A>T (p.Ser346=)
|
rs181131178
|
0.00001
|
NM_001008212.2(OPTN):c.1149-2A>G
|
rs867368757
|
0.00001
|
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala)
|
rs751226367
|
0.00001
|
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=)
|
rs760304751
|
0.00001
|
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly)
|
rs956159636
|
0.00001
|
NM_001008212.2(OPTN):c.1612+9C>T
|
rs763985749
|
0.00001
|
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)
|
rs774245711
|
0.00001
|
NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn)
|
rs1487584331
|
0.00001
|
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)
|
rs756622651
|
0.00001
|
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)
|
rs1269604352
|
0.00001
|
NM_001008212.2(OPTN):c.444G>A (p.Val148=)
|
rs780011442
|
0.00001
|
NM_001008212.2(OPTN):c.447G>A (p.Arg149=)
|
rs555741399
|
0.00001
|
NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala)
|
rs758942502
|
0.00001
|
NM_001008212.2(OPTN):c.481G>A (p.Val161Met)
|
rs776058639
|
0.00001
|
NM_001008212.2(OPTN):c.528T>C (p.Asp176=)
|
rs754892837
|
0.00001
|
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)
|
rs199700857
|
0.00001
|
NM_001008212.2(OPTN):c.626+1G>A
|
rs756957223
|
0.00001
|
NM_001008212.2(OPTN):c.626+4T>C
|
rs1564360523
|
0.00001
|
NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu)
|
rs1189662370
|
0.00001
|
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr)
|
rs775448931
|
0.00001
|
NM_001008212.2(OPTN):c.780-2A>C
|
rs768117011
|
0.00001
|
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter)
|
rs750571210
|
0.00001
|
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)
|
rs143727251
|
0.00001
|
NM_001008212.2(OPTN):c.882+5G>C
|
rs766398912
|
0.00001
|
NM_001008212.2(OPTN):c.891C>T (p.Ser297=)
|
rs200169099
|
0.00001
|
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe)
|
rs1833407652
|
0.00001
|
NM_001008212.2(OPTN):c.950A>G (p.His317Arg)
|
rs747365111
|
0.00001
|
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)
|
rs121909542
|
0.00001
|
NM_001097577.3(ANG):c.365C>T (p.Ala122Val)
|
rs374766597
|
0.00001
|
NM_001097577.3(ANG):c.38T>C (p.Val13Ala)
|
rs200240901
|
0.00001
|
NM_001097577.3(ANG):c.433C>T (p.Arg145Cys)
|
rs565444731
|
0.00001
|
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)
|
rs144725547
|
0.00001
|
NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp)
|
rs767820877
|
0.00001
|
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln)
|
rs749917957
|
0.00001
|
NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val)
|
rs775718358
|
0.00001
|
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser)
|
rs781022347
|
0.00001
|
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)
|
rs113336810
|
0.00001
|
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)
|
rs779682500
|
0.00001
|
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val)
|
rs772442281
|
0.00001
|
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=)
|
rs748736063
|
0.00001
|
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)
|
rs141657385
|
0.00001
|
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)
|
rs772832629
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)
|
rs137852970
|
0.00001
|
NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu)
|
rs778486956
|
0.00001
|
NM_001122955.4(BSCL2):c.88-634G>C
|
rs575422877
|
0.00001
|
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=)
|
rs748195771
|
0.00001
|
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys)
|
rs773431994
|
0.00001
|
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser)
|
rs887619644
|
0.00001
|
NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp)
|
rs747057989
|
0.00001
|
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met)
|
rs142134135
|
0.00001
|
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=)
|
rs886054592
|
0.00001
|
NM_001145809.2(MYH14):c.4761G>A (p.Glu1587=)
|
rs2035993400
|
0.00001
|
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp)
|
rs758424787
|
0.00001
|
NM_001256054.3(C9orf72):c.-47G>A
|
rs886063846
|
0.00001
|
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
|
rs548292999
|
0.00001
|
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
|
rs761427653
|
0.00001
|
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=)
|
rs754694929
|
0.00001
|
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)
|
rs199692678
|
0.00001
|
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
rs1376784009
|
0.00001
|
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys)
|
rs200149883
|
0.00001
|
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile)
|
rs761695197
|
0.00001
|
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met)
|
rs377668381
|
0.00001
|
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)
|
rs886040888
|
0.00001
|
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser)
|
rs546699221
|
0.00001
|
NM_001540.5(HSPB1):c.158G>A (p.Gly53Asp)
|
rs375244209
|
0.00001
|
NM_001540.5(HSPB1):c.253G>T (p.Val85Phe)
|
rs773758650
|
0.00001
|
NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr)
|
rs954539468
|
0.00001
|
NM_001761.3(CCNF):c.1918G>A (p.Val640Met)
|
rs373872375
|
0.00001
|
NM_001917.5(DAO):c.250G>A (p.Ala84Thr)
|
rs781658657
|
0.00001
|
NM_001917.5(DAO):c.46G>A (p.Ala16Thr)
|
rs778735604
|
0.00001
|
NM_002047.2(GARS1):c.-166T>G
|
rs1008764831
|
0.00001
|
NM_002047.4(GARS1):c.1059C>G (p.His353Gln)
|
rs886062273
|
0.00001
|
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
|
rs779184435
|
0.00001
|
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
|
rs746139865
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)
|
rs879254346
|
0.00001
|
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274
|
0.00001
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212
|
0.00001
|
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272
|
0.00001
|
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
|
rs201399681
|
0.00001
|
NM_002180.3(IGHMBP2):c.*23C>T
|
rs931118021
|
0.00001
|
NM_002180.3(IGHMBP2):c.*862T>C
|
rs182410950
|
0.00001
|
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr)
|
rs145076368
|
0.00001
|
NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn)
|
rs1022216138
|
0.00001
|
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp)
|
rs567322475
|
0.00001
|
NM_002180.3(IGHMBP2):c.1038C>T (p.Asn346=)
|
rs773013486
|
0.00001
|
NM_002180.3(IGHMBP2):c.1051A>G (p.Thr351Ala)
|
rs1033402228
|
0.00001
|
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)
|
rs886043773
|
0.00001
|
NM_002180.3(IGHMBP2):c.1061-2A>G
|
rs1424522130
|
0.00001
|
NM_002180.3(IGHMBP2):c.1077C>T (p.Gly359=)
|
rs1247103419
|
0.00001
|
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
|
rs1398038802
|
0.00001
|
NM_002180.3(IGHMBP2):c.1096G>A (p.Glu366Lys)
|
rs759014082
|
0.00001
|
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr)
|
rs756791529
|
0.00001
|
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met)
|
rs770912338
|
0.00001
|
NM_002180.3(IGHMBP2):c.1120A>G (p.Ile374Val)
|
rs374845226
|
0.00001
|
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)
|
rs1193634362
|
0.00001
|
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
|
rs760811074
|
0.00001
|
NM_002180.3(IGHMBP2):c.1137G>A (p.Gln379=)
|
rs35995205
|
0.00001
|
NM_002180.3(IGHMBP2):c.1140C>T (p.Ala380=)
|
rs1176740254
|
0.00001
|
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val)
|
rs876661217
|
0.00001
|
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
|
rs372477029
|
0.00001
|
NM_002180.3(IGHMBP2):c.1167G>C (p.Leu389=)
|
rs369809006
|
0.00001
|
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)
|
rs1347461335
|
0.00001
|
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=)
|
rs756733490
|
0.00001
|
NM_002180.3(IGHMBP2):c.1197C>T (p.Gly399=)
|
rs377631839
|
0.00001
|
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn)
|
rs779654686
|
0.00001
|
NM_002180.3(IGHMBP2):c.1235+9C>T
|
rs553889213
|
0.00001
|
NM_002180.3(IGHMBP2):c.1236-4G>A
|
rs746867102
|
0.00001
|
NM_002180.3(IGHMBP2):c.1241C>T (p.Ala414Val)
|
rs1465465295
|
0.00001
|
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg)
|
rs749343954
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)
|
rs769046350
|
0.00001
|
NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg)
|
rs1555247218
|
0.00001
|
NM_002180.3(IGHMBP2):c.1296G>A (p.Ala432=)
|
rs759035035
|
0.00001
|
NM_002180.3(IGHMBP2):c.129A>G (p.Arg43=)
|
rs368706911
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
|
rs757304363
|
0.00001
|
NM_002180.3(IGHMBP2):c.1334A>G (p.His445Arg)
|
rs571142182
|
0.00001
|
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His)
|
rs149628807
|
0.00001
|
NM_002180.3(IGHMBP2):c.1344C>T (p.Ile448=)
|
rs1209510520
|
0.00001
|
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys)
|
rs374363750
|
0.00001
|
NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg)
|
rs751446350
|
0.00001
|
NM_002180.3(IGHMBP2):c.1386A>G (p.Thr462=)
|
rs1321342951
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu)
|
rs755120725
|
0.00001
|
NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=)
|
rs1302845532
|
0.00001
|
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg)
|
rs1555247334
|
0.00001
|
NM_002180.3(IGHMBP2):c.1452G>A (p.Thr484=)
|
rs1368846781
|
0.00001
|
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=)
|
rs370367228
|
0.00001
|
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser)
|
rs201964221
|
0.00001
|
NM_002180.3(IGHMBP2):c.1515C>T (p.Asp505=)
|
rs538496164
|
0.00001
|
NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=)
|
rs1210997043
|
0.00001
|
NM_002180.3(IGHMBP2):c.1537+17A>G
|
rs1164525405
|
0.00001
|
NM_002180.3(IGHMBP2):c.1537+88G>A
|
rs1555247438
|
0.00001
|
NM_002180.3(IGHMBP2):c.1537+9G>C
|
rs1859419581
|
0.00001
|
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)
|
rs137852665
|
0.00001
|
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
|
rs373017768
|
0.00001
|
NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr)
|
rs759965718
|
0.00001
|
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=)
|
rs988590959
|
0.00001
|
NM_002180.3(IGHMBP2):c.1610T>A (p.Val537Glu)
|
rs749172831
|
0.00001
|
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=)
|
rs746241618
|
0.00001
|
NM_002180.3(IGHMBP2):c.162C>T (p.Ser54=)
|
rs747822666
|
0.00001
|
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)
|
rs1479493690
|
0.00001
|
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
|
rs768685672
|
0.00001
|
NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys)
|
rs201649839
|
0.00001
|
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His)
|
rs571887680
|
0.00001
|
NM_002180.3(IGHMBP2):c.1722C>T (p.Ala574=)
|
rs200081534
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+13C>T
|
rs568649635
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+17A>G
|
rs757390726
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+5G>A
|
rs1352994155
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+8G>T
|
rs1441125557
|
0.00001
|
NM_002180.3(IGHMBP2):c.1757-6T>C
|
rs1594455341
|
0.00001
|
NM_002180.3(IGHMBP2):c.175C>T (p.Leu59=)
|
rs1388384906
|
0.00001
|
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750
|
0.00001
|
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr)
|
rs1240484547
|
0.00001
|
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)
|
rs991227431
|
0.00001
|
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys)
|
rs536556753
|
0.00001
|
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)
|
rs1057518943
|
0.00001
|
NM_002180.3(IGHMBP2):c.1826C>T (p.Ala609Val)
|
rs776775995
|
0.00001
|
NM_002180.3(IGHMBP2):c.1833C>G (p.Ile611Met)
|
rs752495359
|
0.00001
|
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
|
rs943195178
|
0.00001
|
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
|
rs774522176
|
0.00001
|
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile)
|
rs886048605
|
0.00001
|
NM_002180.3(IGHMBP2):c.1888T>C (p.Phe630Leu)
|
rs1264599893
|
0.00001
|
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
|
rs375023053
|
0.00001
|
NM_002180.3(IGHMBP2):c.1983C>T (p.His661=)
|
rs752907111
|
0.00001
|
NM_002180.3(IGHMBP2):c.1984G>A (p.Ala662Thr)
|
rs370166700
|
0.00001
|
NM_002180.3(IGHMBP2):c.1990A>C (p.Thr664Pro)
|
rs1310268610
|
0.00001
|
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn)
|
rs1317117261
|
0.00001
|
NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg)
|
rs1566446312
|
0.00001
|
NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met)
|
rs377743886
|
0.00001
|
NM_002180.3(IGHMBP2):c.2022G>A (p.Arg674=)
|
rs111366439
|
0.00001
|
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
|
rs767422655
|
0.00001
|
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=)
|
rs886048606
|
0.00001
|
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln)
|
rs943141487
|
0.00001
|
NM_002180.3(IGHMBP2):c.2097G>T (p.Gly699=)
|
rs372382180
|
0.00001
|
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
|
rs1042372226
|
0.00001
|
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
|
rs766757770
|
0.00001
|
NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg)
|
rs1191974842
|
0.00001
|
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met)
|
rs1462234845
|
0.00001
|
NM_002180.3(IGHMBP2):c.2173G>A (p.Gly725Ser)
|
rs771844457
|
0.00001
|
NM_002180.3(IGHMBP2):c.2175C>T (p.Gly725=)
|
rs773046519
|
0.00001
|
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val)
|
rs750717921
|
0.00001
|
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
|
rs1444267409
|
0.00001
|
NM_002180.3(IGHMBP2):c.2259C>T (p.His753=)
|
rs777663590
|
0.00001
|
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn)
|
rs200499838
|
0.00001
|
NM_002180.3(IGHMBP2):c.2307C>T (p.His769=)
|
rs909093295
|
0.00001
|
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn)
|
rs760946663
|
0.00001
|
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile)
|
rs1317637789
|
0.00001
|
NM_002180.3(IGHMBP2):c.2346G>A (p.Val782=)
|
rs1349360990
|
0.00001
|
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
|
rs543060051
|
0.00001
|
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=)
|
rs187924099
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
|
rs769685389
|
0.00001
|
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)
|
rs761789207
|
0.00001
|
NM_002180.3(IGHMBP2):c.2397C>T (p.Thr799=)
|
rs763818374
|
0.00001
|
NM_002180.3(IGHMBP2):c.2415C>G (p.Leu805=)
|
rs1429055770
|
0.00001
|
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val)
|
rs779854653
|
0.00001
|
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=)
|
rs1594415602
|
0.00001
|
NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup)
|
rs1267983821
|
0.00001
|
NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=)
|
rs1057524376
|
0.00001
|
NM_002180.3(IGHMBP2):c.2496G>A (p.Thr832=)
|
rs756948501
|
0.00001
|
NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=)
|
rs371840404
|
0.00001
|
NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser)
|
rs1131691275
|
0.00001
|
NM_002180.3(IGHMBP2):c.256+7G>A
|
rs1312545588
|
0.00001
|
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg)
|
rs1300949116
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+1G>T
|
rs786205090
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+9A>G
|
rs778897070
|
0.00001
|
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu)
|
rs772539742
|
0.00001
|
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)
|
rs770556515
|
0.00001
|
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr)
|
rs149294713
|
0.00001
|
NM_002180.3(IGHMBP2):c.267G>C (p.Val89=)
|
rs932085759
|
0.00001
|
NM_002180.3(IGHMBP2):c.2688C>G (p.Thr896=)
|
rs1566448372
|
0.00001
|
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
|
rs766526224
|
0.00001
|
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
|
rs748491290
|
0.00001
|
NM_002180.3(IGHMBP2):c.2724C>T (p.Thr908=)
|
rs1234917202
|
0.00001
|
NM_002180.3(IGHMBP2):c.2752C>T (p.Arg918Cys)
|
rs199962477
|
0.00001
|
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met)
|
rs761854167
|
0.00001
|
NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=)
|
rs112870015
|
0.00001
|
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
|
rs763336691
|
0.00001
|
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
|
rs557641477
|
0.00001
|
NM_002180.3(IGHMBP2):c.2822G>A (p.Arg941Gln)
|
rs373408947
|
0.00001
|
NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=)
|
rs778821393
|
0.00001
|
NM_002180.3(IGHMBP2):c.286A>G (p.Asn96Asp)
|
rs760004229
|
0.00001
|
NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg)
|
rs199574747
|
0.00001
|
NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys)
|
rs1361120114
|
0.00001
|
NM_002180.3(IGHMBP2):c.2912G>A (p.Arg971Lys)
|
rs1471799706
|
0.00001
|
NM_002180.3(IGHMBP2):c.2928G>A (p.Lys976=)
|
rs749364778
|
0.00001
|
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
|
rs768924538
|
0.00001
|
NM_002180.3(IGHMBP2):c.2943C>T (p.Ser981=)
|
rs773684186
|
0.00001
|
NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=)
|
rs761315649
|
0.00001
|
NM_002180.3(IGHMBP2):c.2958C>T (p.Ser986=)
|
rs754380977
|
0.00001
|
NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met)
|
rs777591006
|
0.00001
|
NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp)
|
rs750026880
|
0.00001
|
NM_002180.3(IGHMBP2):c.342C>A (p.Val114=)
|
rs756861635
|
0.00001
|
NM_002180.3(IGHMBP2):c.345G>A (p.Thr115=)
|
rs747166731
|
0.00001
|
NM_002180.3(IGHMBP2):c.350C>T (p.Ala117Val)
|
rs1034569953
|
0.00001
|
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg)
|
rs775782198
|
0.00001
|
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp)
|
rs761440964
|
0.00001
|
NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=)
|
rs1272309665
|
0.00001
|
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)
|
rs1324667543
|
0.00001
|
NM_002180.3(IGHMBP2):c.453C>T (p.Ala151=)
|
rs752694569
|
0.00001
|
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
|
rs767665196
|
0.00001
|
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val)
|
rs750539690
|
0.00001
|
NM_002180.3(IGHMBP2):c.492C>T (p.Ser164=)
|
rs1381446523
|
0.00001
|
NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr)
|
rs754051200
|
0.00001
|
NM_002180.3(IGHMBP2):c.531T>G (p.Ser177Arg)
|
rs779086573
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+1G>A
|
rs1057518588
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+9T>G
|
rs886048603
|
0.00001
|
NM_002180.3(IGHMBP2):c.548-13G>T
|
rs1198884720
|
0.00001
|
NM_002180.3(IGHMBP2):c.585C>T (p.Ser195=)
|
rs1442536361
|
0.00001
|
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val)
|
rs780802298
|
0.00001
|
NM_002180.3(IGHMBP2):c.597G>A (p.Ala199=)
|
rs780961121
|
0.00001
|
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr)
|
rs768493454
|
0.00001
|
NM_002180.3(IGHMBP2):c.609G>A (p.Ala203=)
|
rs761677597
|
0.00001
|
NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=)
|
rs755634860
|
0.00001
|
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=)
|
rs748899869
|
0.00001
|
NM_002180.3(IGHMBP2):c.6C>T (p.Ala2=)
|
rs1168042239
|
0.00001
|
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)
|
rs137852669
|
0.00001
|
NM_002180.3(IGHMBP2):c.711+10G>C
|
rs1484976321
|
0.00001
|
NM_002180.3(IGHMBP2):c.711+1G>C
|
rs774079947
|
0.00001
|
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=)
|
rs755582766
|
0.00001
|
NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr)
|
rs774700020
|
0.00001
|
NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys)
|
rs1033094612
|
0.00001
|
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg)
|
rs112495985
|
0.00001
|
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His)
|
rs892885630
|
0.00001
|
NM_002180.3(IGHMBP2):c.860G>A (p.Ser287Asn)
|
rs899517052
|
0.00001
|
NM_002180.3(IGHMBP2):c.862G>A (p.Asp288Asn)
|
rs768803582
|
0.00001
|
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile)
|
rs761171176
|
0.00001
|
NM_002180.3(IGHMBP2):c.891G>A (p.Arg297=)
|
rs181492004
|
0.00001
|
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His)
|
rs758520241
|
0.00001
|
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu)
|
rs200079527
|
0.00001
|
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser)
|
rs555235493
|
0.00001
|
NM_002180.3(IGHMBP2):c.947A>G (p.Lys316Arg)
|
rs1323805346
|
0.00001
|
NM_002180.3(IGHMBP2):c.954T>C (p.Asn318=)
|
rs1482496537
|
0.00001
|
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)
|
rs773690764
|
0.00001
|
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val)
|
rs201726883
|
0.00001
|
NM_003334.4(UBA1):c.1014G>C (p.Gln338His)
|
rs1157237217
|
0.00001
|
NM_003334.4(UBA1):c.1034G>A (p.Arg345Gln)
|
rs199942374
|
0.00001
|
NM_003334.4(UBA1):c.1047C>T (p.Pro349=)
|
rs782664927
|
0.00001
|
NM_003334.4(UBA1):c.1147A>T (p.Ile383Phe)
|
rs1341394275
|
0.00001
|
NM_003334.4(UBA1):c.117+16G>A
|
rs375750779
|
0.00001
|
NM_003334.4(UBA1):c.1189A>G (p.Ile397Val)
|
rs1556788826
|
0.00001
|
NM_003334.4(UBA1):c.1339-9A>G
|
rs782104383
|
0.00001
|
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys)
|
rs570568650
|
0.00001
|
NM_003334.4(UBA1):c.1353T>C (p.Tyr451=)
|
rs1488418187
|
0.00001
|
NM_003334.4(UBA1):c.1401C>G (p.Gly467=)
|
rs782569910
|
0.00001
|
NM_003334.4(UBA1):c.147C>T (p.Asp49=)
|
rs1556786556
|
0.00001
|
NM_003334.4(UBA1):c.1576-20G>A
|
rs377335190
|
0.00001
|
NM_003334.4(UBA1):c.1629C>G (p.Ile543Met)
|
rs1556790800
|
0.00001
|
NM_003334.4(UBA1):c.1710C>T (p.Gly570=)
|
rs1556790843
|
0.00001
|
NM_003334.4(UBA1):c.1758C>T (p.Arg586=)
|
rs782655127
|
0.00001
|
NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln)
|
rs1318594436
|
0.00001
|
NM_003334.4(UBA1):c.1929C>T (p.His643=)
|
rs782419696
|
0.00001
|
NM_003334.4(UBA1):c.2053T>C (p.Leu685=)
|
rs781839671
|
0.00001
|
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)
|
rs782425809
|
0.00001
|
NM_003334.4(UBA1):c.2115C>T (p.Asp705=)
|
rs1481710267
|
0.00001
|
NM_003334.4(UBA1):c.2118C>T (p.Cys706=)
|
rs782597501
|
0.00001
|
NM_003334.4(UBA1):c.2136C>T (p.His712=)
|
rs781845476
|
0.00001
|
NM_003334.4(UBA1):c.2187C>T (p.Phe729=)
|
rs1480401128
|
0.00001
|
NM_003334.4(UBA1):c.2202C>A (p.Leu734=)
|
rs1556793129
|
0.00001
|
NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser)
|
rs1556793160
|
0.00001
|
NM_003334.4(UBA1):c.231A>G (p.Val77=)
|
rs1556786690
|
0.00001
|
NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg)
|
rs868922840
|
0.00001
|
NM_003334.4(UBA1):c.2371C>T (p.Leu791=)
|
rs1556793265
|
0.00001
|
NM_003334.4(UBA1):c.2412C>T (p.Gly804=)
|
rs201456998
|
0.00001
|
NM_003334.4(UBA1):c.242G>A (p.Arg81Gln)
|
rs782097752
|
0.00001
|
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser)
|
rs781800261
|
0.00001
|
NM_003334.4(UBA1):c.2474G>A (p.Arg825His)
|
rs781852793
|
0.00001
|
NM_003334.4(UBA1):c.2504G>A (p.Ser835Asn)
|
rs782586380
|
0.00001
|
NM_003334.4(UBA1):c.2554-6T>C
|
rs370565575
|
0.00001
|
NM_003334.4(UBA1):c.2567A>G (p.Asn856Ser)
|
rs374003677
|
0.00001
|
NM_003334.4(UBA1):c.2575A>G (p.Met859Val)
|
rs782649232
|
0.00001
|
NM_003334.4(UBA1):c.2584A>G (p.Ile862Val)
|
rs1351999233
|
0.00001
|
NM_003334.4(UBA1):c.2586C>T (p.Ile862=)
|
rs150512668
|
0.00001
|
NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala)
|
rs782749176
|
0.00001
|
NM_003334.4(UBA1):c.2640G>C (p.Arg880=)
|
rs1262504002
|
0.00001
|
NM_003334.4(UBA1):c.2688G>A (p.Thr896=)
|
rs781811327
|
0.00001
|
NM_003334.4(UBA1):c.2742G>C (p.Gln914His)
|
rs1487402125
|
0.00001
|
NM_003334.4(UBA1):c.2754G>C (p.Gln918His)
|
rs782576505
|
0.00001
|
NM_003334.4(UBA1):c.2763C>G (p.Ser921=)
|
rs1317157419
|
0.00001
|
NM_003334.4(UBA1):c.2824G>A (p.Ala942Thr)
|
rs1556794067
|
0.00001
|
NM_003334.4(UBA1):c.2831G>A (p.Arg944His)
|
rs782687555
|
0.00001
|
NM_003334.4(UBA1):c.2869C>T (p.Arg957Cys)
|
rs781997101
|
0.00001
|
NM_003334.4(UBA1):c.2893C>G (p.Pro965Ala)
|
rs1556794528
|
0.00001
|
NM_003334.4(UBA1):c.2933A>G (p.Tyr978Cys)
|
rs782527493
|
0.00001
|
NM_003334.4(UBA1):c.2941-14C>T
|
rs782755186
|
0.00001
|
NM_003334.4(UBA1):c.303A>G (p.Leu101=)
|
rs782052238
|
0.00001
|
NM_003334.4(UBA1):c.3060C>T (p.Ser1020=)
|
rs782246207
|
0.00001
|
NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys)
|
rs782810802
|
0.00001
|
NM_003334.4(UBA1):c.3132C>T (p.Ser1044=)
|
rs781808756
|
0.00001
|
NM_003334.4(UBA1):c.330T>G (p.Ala110=)
|
rs781828321
|
0.00001
|
NM_003334.4(UBA1):c.34G>T (p.Val12Leu)
|
rs982155788
|
0.00001
|
NM_003334.4(UBA1):c.360G>A (p.Glu120=)
|
rs782436604
|
0.00001
|
NM_003334.4(UBA1):c.453C>T (p.Leu151=)
|
rs782803598
|
0.00001
|
NM_003334.4(UBA1):c.465C>T (p.Phe155=)
|
rs1556787010
|
0.00001
|
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)
|
rs1556787651
|
0.00001
|
NM_003334.4(UBA1):c.573G>A (p.Thr191=)
|
rs1556787692
|
0.00001
|
NM_003334.4(UBA1):c.598T>G (p.Cys200Gly)
|
rs200692291
|
0.00001
|
NM_003334.4(UBA1):c.603C>T (p.Asp201=)
|
rs782085880
|
0.00001
|
NM_003334.4(UBA1):c.663T>A (p.Val221=)
|
rs782741702
|
0.00001
|
NM_003334.4(UBA1):c.734G>A (p.Gly245Glu)
|
rs1409013948
|
0.00001
|
NM_003334.4(UBA1):c.97G>A (p.Val33Met)
|
rs1449173671
|
0.00001
|
NM_003384.3(VRK1):c.*281G>A
|
rs1889257279
|
0.00001
|
NM_003384.3(VRK1):c.*302T>C
|
rs1294884447
|
0.00001
|
NM_003384.3(VRK1):c.1011C>A (p.Gly337=)
|
rs547821991
|
0.00001
|
NM_003384.3(VRK1):c.1064C>G (p.Thr355Arg)
|
rs1322207018
|
0.00001
|
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)
|
rs145241983
|
0.00001
|
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs)
|
rs892468166
|
0.00001
|
NM_003384.3(VRK1):c.1142A>G (p.Glu381Gly)
|
rs549505565
|
0.00001
|
NM_003384.3(VRK1):c.1143G>A (p.Glu381=)
|
rs745392801
|
0.00001
|
NM_003384.3(VRK1):c.1159+5G>C
|
rs372052354
|
0.00001
|
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)
|
rs149083861
|
0.00001
|
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)
|
rs766501031
|
0.00001
|
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg)
|
rs759541730
|
0.00001
|
NM_003384.3(VRK1):c.127A>G (p.Ile43Val)
|
rs777420974
|
0.00001
|
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)
|
rs1372198425
|
0.00001
|
NM_003384.3(VRK1):c.144T>C (p.Phe48=)
|
rs1887099492
|
0.00001
|
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)
|
rs1237038231
|
0.00001
|
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)
|
rs1474265077
|
0.00001
|
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr)
|
rs768889718
|
0.00001
|
NM_003384.3(VRK1):c.264A>G (p.Gln88=)
|
rs200368952
|
0.00001
|
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)
|
rs772263867
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.279A>T (p.Pro93=)
|
rs765294511
|
0.00001
|
NM_003384.3(VRK1):c.286+18C>T
|
rs370335226
|
0.00001
|
NM_003384.3(VRK1):c.302G>A (p.Arg101His)
|
rs372646027
|
0.00001
|
NM_003384.3(VRK1):c.345G>T (p.Gly115=)
|
rs747216954
|
0.00001
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
0.00001
|
NM_003384.3(VRK1):c.366T>C (p.Asn122=)
|
rs781389131
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)
|
rs201936978
|
0.00001
|
NM_003384.3(VRK1):c.484-4A>G
|
rs572434615
|
0.00001
|
NM_003384.3(VRK1):c.507C>T (p.His169=)
|
rs773548929
|
0.00001
|
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr)
|
rs1888016669
|
0.00001
|
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe)
|
rs1452833653
|
0.00001
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
NM_003384.3(VRK1):c.583T>G (p.Leu195Val)
|
rs779770049
|
0.00001
|
NM_003384.3(VRK1):c.588A>T (p.Val196=)
|
rs1387075963
|
0.00001
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
NM_003384.3(VRK1):c.618A>G (p.Pro206=)
|
rs773555796
|
0.00001
|
NM_003384.3(VRK1):c.639C>T (p.Tyr213=)
|
rs1217274457
|
0.00001
|
NM_003384.3(VRK1):c.66A>G (p.Gln22=)
|
rs146973955
|
0.00001
|
NM_003384.3(VRK1):c.699C>T (p.His233=)
|
rs1372315924
|
0.00001
|
NM_003384.3(VRK1):c.6del (p.Arg3fs)
|
rs780789145
|
0.00001
|
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp)
|
rs1311364931
|
0.00001
|
NM_003384.3(VRK1):c.709+10T>C
|
rs1468277298
|
0.00001
|
NM_003384.3(VRK1):c.709+9G>A
|
rs1202671679
|
0.00001
|
NM_003384.3(VRK1):c.710-14T>C
|
rs1275418589
|
0.00001
|
NM_003384.3(VRK1):c.710-9C>A
|
rs757724286
|
0.00001
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
NM_003384.3(VRK1):c.726T>C (p.Gly242=)
|
rs562273268
|
0.00001
|
NM_003384.3(VRK1):c.72A>C (p.Ala24=)
|
rs147698530
|
0.00001
|
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln)
|
rs1200170208
|
0.00001
|
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)
|
rs761905254
|
0.00001
|
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys)
|
rs747692654
|
0.00001
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
NM_003384.3(VRK1):c.82A>G (p.Ile28Val)
|
rs1210199221
|
0.00001
|
NM_003384.3(VRK1):c.830+10A>G
|
rs544437757
|
0.00001
|
NM_003384.3(VRK1):c.831-12A>G
|
rs1555361641
|
0.00001
|
NM_003384.3(VRK1):c.831-18T>A
|
rs746301651
|
0.00001
|
NM_003384.3(VRK1):c.846T>C (p.Ile282=)
|
rs759546376
|
0.00001
|
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly)
|
rs1449338678
|
0.00001
|
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg)
|
rs1310616396
|
0.00001
|
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg)
|
rs1340163417
|
0.00001
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
NM_003384.3(VRK1):c.889+4G>C
|
rs761286112
|
0.00001
|
NM_003384.3(VRK1):c.966C>T (p.Asp322=)
|
rs1302769997
|
0.00001
|
NM_003384.3(VRK1):c.99A>C (p.Ala33=)
|
rs1461516851
|
0.00001
|
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer)
|
rs752086581
|
0.00001
|
NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=)
|
rs982817243
|
0.00001
|
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala)
|
rs1250501488
|
0.00001
|
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala)
|
rs1355424687
|
0.00001
|
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs)
|
rs781417955
|
0.00001
|
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=)
|
rs771948860
|
0.00001
|
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys)
|
rs535932454
|
0.00001
|
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser)
|
rs776303544
|
0.00001
|
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=)
|
rs778199086
|
0.00001
|
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val)
|
rs1447276382
|
0.00001
|
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)
|
rs776749939
|
0.00001
|
NM_003900.5(SQSTM1):c.1165+1G>A
|
rs796051870
|
0.00001
|
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)
|
rs1391182750
|
0.00001
|
NM_003900.5(SQSTM1):c.1166-6C>T
|
rs762322293
|
0.00001
|
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)
|
rs771966860
|
0.00001
|
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=)
|
rs766437927
|
0.00001
|
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys)
|
rs1471403162
|
0.00001
|
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=)
|
rs573881131
|
0.00001
|
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr)
|
rs752910741
|
0.00001
|
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=)
|
rs987821927
|
0.00001
|
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val)
|
rs1241285995
|
0.00001
|
NM_003900.5(SQSTM1):c.160C>T (p.Leu54=)
|
rs1033321881
|
0.00001
|
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)
|
rs774355338
|
0.00001
|
NM_003900.5(SQSTM1):c.189C>T (p.Phe63=)
|
rs1278023995
|
0.00001
|
NM_003900.5(SQSTM1):c.195G>A (p.Ala65=)
|
rs986341874
|
0.00001
|
NM_003900.5(SQSTM1):c.205+6C>T
|
rs1286712928
|
0.00001
|
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=)
|
rs780842511
|
0.00001
|
NM_003900.5(SQSTM1):c.222G>A (p.Leu74=)
|
rs371268375
|
0.00001
|
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=)
|
rs148366738
|
0.00001
|
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys)
|
rs368853286
|
0.00001
|
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro)
|
rs1208284061
|
0.00001
|
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His)
|
rs766411872
|
0.00001
|
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=)
|
rs150883783
|
0.00001
|
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys)
|
rs1295820640
|
0.00001
|
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn)
|
rs1181188986
|
0.00001
|
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly)
|
rs752438818
|
0.00001
|
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)
|
rs886039782
|
0.00001
|
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys)
|
rs750784335
|
0.00001
|
NM_003900.5(SQSTM1):c.302-5T>C
|
rs199527061
|
0.00001
|
NM_003900.5(SQSTM1):c.315C>T (p.Cys105=)
|
rs770804860
|
0.00001
|
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln)
|
rs778554903
|
0.00001
|
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp)
|
rs771903158
|
0.00001
|
NM_003900.5(SQSTM1):c.321G>A (p.Arg107=)
|
rs1378204039
|
0.00001
|
NM_003900.5(SQSTM1):c.33G>C (p.Leu11=)
|
rs1476097073
|
0.00001
|
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val)
|
rs1209470881
|
0.00001
|
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=)
|
rs768088721
|
0.00001
|
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn)
|
rs753212399
|
0.00001
|
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=)
|
rs1007964808
|
0.00001
|
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile)
|
rs1309887153
|
0.00001
|
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg)
|
rs374417389
|
0.00001
|
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp)
|
rs1442832120
|
0.00001
|
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=)
|
rs769497182
|
0.00001
|
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly)
|
rs377198490
|
0.00001
|
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=)
|
rs1387392776
|
0.00001
|
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg)
|
rs200731802
|
0.00001
|
NM_003900.5(SQSTM1):c.531+15T>C
|
rs1280173893
|
0.00001
|
NM_003900.5(SQSTM1):c.532-14A>G
|
rs748661765
|
0.00001
|
NM_003900.5(SQSTM1):c.532-7C>T
|
rs770329828
|
0.00001
|
NM_003900.5(SQSTM1):c.546C>T (p.Ser182=)
|
rs759721454
|
0.00001
|
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln)
|
rs778537429
|
0.00001
|
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)
|
rs878982215
|
0.00001
|
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys)
|
rs867275286
|
0.00001
|
NM_003900.5(SQSTM1):c.663G>A (p.Thr221=)
|
rs758128093
|
0.00001
|
NM_003900.5(SQSTM1):c.674-7A>C
|
rs776278684
|
0.00001
|
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu)
|
rs1397353855
|
0.00001
|
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu)
|
rs757778292
|
0.00001
|
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=)
|
rs889431769
|
0.00001
|
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn)
|
rs1325278483
|
0.00001
|
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=)
|
rs774460525
|
0.00001
|
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu)
|
rs1353365075
|
0.00001
|
NM_003900.5(SQSTM1):c.755-7C>T
|
rs781389243
|
0.00001
|
NM_003900.5(SQSTM1):c.755-9C>T
|
rs759140266
|
0.00001
|
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu)
|
rs182522590
|
0.00001
|
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val)
|
rs778679611
|
0.00001
|
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr)
|
rs745788957
|
0.00001
|
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg)
|
rs763179729
|
0.00001
|
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val)
|
rs753685955
|
0.00001
|
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=)
|
rs779544030
|
0.00001
|
NM_003900.5(SQSTM1):c.810C>T (p.Pro270=)
|
rs1280918343
|
0.00001
|
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr)
|
rs757493001
|
0.00001
|
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=)
|
rs755859379
|
0.00001
|
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val)
|
rs541356917
|
0.00001
|
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=)
|
rs766129922
|
0.00001
|
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg)
|
rs1460912506
|
0.00001
|
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser)
|
rs1225559170
|
0.00001
|
NM_003900.5(SQSTM1):c.970-14G>A
|
rs761682844
|
0.00001
|
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser)
|
rs1156716975
|
0.00001
|
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)
|
rs1185406298
|
0.00001
|
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu)
|
rs755411592
|
0.00001
|
NM_004082.5(DCTN1):c.*57C>T
|
rs567051449
|
0.00001
|
NM_004082.5(DCTN1):c.1002G>A (p.Glu334=)
|
rs757723673
|
0.00001
|
NM_004082.5(DCTN1):c.1022T>G (p.Ile341Ser)
|
rs1674769234
|
0.00001
|
NM_004082.5(DCTN1):c.102G>A (p.Glu34=)
|
rs1207116898
|
0.00001
|
NM_004082.5(DCTN1):c.1059C>T (p.Gly353=)
|
rs771325809
|
0.00001
|
NM_004082.5(DCTN1):c.1105C>T (p.Arg369Cys)
|
rs149499018
|
0.00001
|
NM_004082.5(DCTN1):c.1128-3C>G
|
rs914567815
|
0.00001
|
NM_004082.5(DCTN1):c.1155G>A (p.Lys385=)
|
rs763048243
|
0.00001
|
NM_004082.5(DCTN1):c.1171C>A (p.Leu391Ile)
|
rs1282851211
|
0.00001
|
NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys)
|
rs1040712616
|
0.00001
|
NM_004082.5(DCTN1):c.1238A>G (p.Gln413Arg)
|
rs745458066
|
0.00001
|
NM_004082.5(DCTN1):c.1261A>G (p.Ser421Gly)
|
rs1417901024
|
0.00001
|
NM_004082.5(DCTN1):c.1288-18A>G
|
rs770601874
|
0.00001
|
NM_004082.5(DCTN1):c.1288-6A>G
|
rs1236101222
|
0.00001
|
NM_004082.5(DCTN1):c.1364G>A (p.Arg455His)
|
rs763277715
|
0.00001
|
NM_004082.5(DCTN1):c.1420C>T (p.Leu474=)
|
rs139100051
|
0.00001
|
NM_004082.5(DCTN1):c.1430A>G (p.Asn477Ser)
|
rs756081164
|
0.00001
|
NM_004082.5(DCTN1):c.1456C>T (p.Arg486Trp)
|
rs759801622
|
0.00001
|
NM_004082.5(DCTN1):c.1479C>T (p.Gly493=)
|
rs754282487
|
0.00001
|
NM_004082.5(DCTN1):c.1481C>T (p.Ala494Val)
|
rs761331951
|
0.00001
|
NM_004082.5(DCTN1):c.1483C>T (p.Arg495Trp)
|
rs184840910
|
0.00001
|
NM_004082.5(DCTN1):c.1489C>T (p.Arg497Cys)
|
rs1327106238
|
0.00001
|
NM_004082.5(DCTN1):c.1505G>A (p.Arg502His)
|
rs780066070
|
0.00001
|
NM_004082.5(DCTN1):c.1526C>T (p.Thr509Met)
|
rs967117932
|
0.00001
|
NM_004082.5(DCTN1):c.1527G>A (p.Thr509=)
|
rs777762235
|
0.00001
|
NM_004082.5(DCTN1):c.153G>A (p.Leu51=)
|
rs765144648
|
0.00001
|
NM_004082.5(DCTN1):c.1585-10C>T
|
rs1573159255
|
0.00001
|
NM_004082.5(DCTN1):c.1585-5C>G
|
rs762445148
|
0.00001
|
NM_004082.5(DCTN1):c.1594C>G (p.Arg532Gly)
|
rs563630664
|
0.00001
|
NM_004082.5(DCTN1):c.1600C>G (p.Leu534Val)
|
rs1411399793
|
0.00001
|
NM_004082.5(DCTN1):c.1610A>G (p.Gln537Arg)
|
rs4994503
|
0.00001
|
NM_004082.5(DCTN1):c.1692C>T (p.Ala564=)
|
rs886043620
|
0.00001
|
NM_004082.5(DCTN1):c.1701+15T>G
|
rs375345080
|
0.00001
|
NM_004082.5(DCTN1):c.1702-8C>T
|
rs1223678248
|
0.00001
|
NM_004082.5(DCTN1):c.1770C>T (p.Ala590=)
|
rs373649455
|
0.00001
|
NM_004082.5(DCTN1):c.1774A>G (p.Met592Val)
|
rs778331682
|
0.00001
|
NM_004082.5(DCTN1):c.177C>T (p.Gly59=)
|
rs72466484
|
0.00001
|
NM_004082.5(DCTN1):c.1780G>C (p.Asp594His)
|
rs1200525088
|
0.00001
|
NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn)
|
rs1243051229
|
0.00001
|
NM_004082.5(DCTN1):c.1793G>A (p.Arg598Gln)
|
rs779723221
|
0.00001
|
NM_004082.5(DCTN1):c.1816G>A (p.Val606Ile)
|
rs375778151
|
0.00001
|
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser)
|
rs372808221
|
0.00001
|
NM_004082.5(DCTN1):c.1867C>T (p.Arg623Trp)
|
rs764568642
|
0.00001
|
NM_004082.5(DCTN1):c.1944G>T (p.Glu648Asp)
|
rs1674555206
|
0.00001
|
NM_004082.5(DCTN1):c.1977G>A (p.Ser659=)
|
rs750553689
|
0.00001
|
NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly)
|
rs774272417
|
0.00001
|
NM_004082.5(DCTN1):c.2083C>T (p.His695Tyr)
|
rs756952260
|
0.00001
|
NM_004082.5(DCTN1):c.2103C>G (p.Phe701Leu)
|
rs1309359471
|
0.00001
|
NM_004082.5(DCTN1):c.2205T>G (p.Leu735=)
|
rs773099597
|
0.00001
|
NM_004082.5(DCTN1):c.2253+4A>T
|
rs1674495774
|
0.00001
|
NM_004082.5(DCTN1):c.2254-10A>G
|
rs954787850
|
0.00001
|
NM_004082.5(DCTN1):c.2254-5C>T
|
rs746514094
|
0.00001
|
NM_004082.5(DCTN1):c.2269C>T (p.Leu757=)
|
rs778632270
|
0.00001
|
NM_004082.5(DCTN1):c.228G>A (p.Arg76=)
|
rs1480799137
|
0.00001
|
NM_004082.5(DCTN1):c.2296C>T (p.Arg766Trp)
|
rs766338463
|
0.00001
|
NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln)
|
rs200611961
|
0.00001
|
NM_004082.5(DCTN1):c.2315A>G (p.Gln772Arg)
|
rs1648520142
|
0.00001
|
NM_004082.5(DCTN1):c.2341G>T (p.Ala781Ser)
|
rs1266701728
|
0.00001
|
NM_004082.5(DCTN1):c.2357A>G (p.Asp786Gly)
|
rs752889408
|
0.00001
|
NM_004082.5(DCTN1):c.2384G>A (p.Arg795His)
|
rs377530504
|
0.00001
|
NM_004082.5(DCTN1):c.2396A>G (p.Lys799Arg)
|
rs773793200
|
0.00001
|
NM_004082.5(DCTN1):c.2411G>A (p.Arg804Gln)
|
rs1443384895
|
0.00001
|
NM_004082.5(DCTN1):c.2439C>G (p.Ile813Met)
|
rs1313684238
|
0.00001
|
NM_004082.5(DCTN1):c.2466+16T>G
|
rs892038213
|
0.00001
|
NM_004082.5(DCTN1):c.2467-14G>C
|
rs369260205
|
0.00001
|
NM_004082.5(DCTN1):c.2467-16C>G
|
rs984523563
|
0.00001
|
NM_004082.5(DCTN1):c.2467-6A>G
|
rs150222185
|
0.00001
|
NM_004082.5(DCTN1):c.2467-8G>T
|
rs779001284
|
0.00001
|
NM_004082.5(DCTN1):c.2467G>A (p.Val823Ile)
|
rs753992154
|
0.00001
|
NM_004082.5(DCTN1):c.2478G>A (p.Thr826=)
|
rs1473795697
|
0.00001
|
NM_004082.5(DCTN1):c.2499C>T (p.His833=)
|
rs750731203
|
0.00001
|
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=)
|
rs767877041
|
0.00001
|
NM_004082.5(DCTN1):c.2511C>T (p.Val837=)
|
rs377519506
|
0.00001
|
NM_004082.5(DCTN1):c.2523G>T (p.Leu841=)
|
rs199501797
|
0.00001
|
NM_004082.5(DCTN1):c.2532G>C (p.Val844=)
|
rs775122005
|
0.00001
|
NM_004082.5(DCTN1):c.2540C>G (p.Ala847Gly)
|
rs1573152106
|
0.00001
|
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr)
|
rs769512188
|
0.00001
|
NM_004082.5(DCTN1):c.2585T>C (p.Leu862Pro)
|
rs777542005
|
0.00001
|
NM_004082.5(DCTN1):c.258C>T (p.Gly86=)
|
rs140054458
|
0.00001
|
NM_004082.5(DCTN1):c.260T>C (p.Ile87Thr)
|
rs72466488
|
0.00001
|
NM_004082.5(DCTN1):c.2622C>T (p.Ser874=)
|
rs1367060889
|
0.00001
|
NM_004082.5(DCTN1):c.2629-4G>A
|
rs201090138
|
0.00001
|
NM_004082.5(DCTN1):c.2639C>T (p.Thr880Ile)
|
rs758789274
|
0.00001
|
NM_004082.5(DCTN1):c.2640C>T (p.Thr880=)
|
rs1453065894
|
0.00001
|
NM_004082.5(DCTN1):c.2660A>C (p.Glu887Ala)
|
rs1166896176
|
0.00001
|
NM_004082.5(DCTN1):c.2668C>T (p.Arg890Cys)
|
rs767379191
|
0.00001
|
NM_004082.5(DCTN1):c.2679C>T (p.Cys893=)
|
rs1253918840
|
0.00001
|
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val)
|
rs545910781
|
0.00001
|
NM_004082.5(DCTN1):c.2760+20G>T
|
rs371973468
|
0.00001
|
NM_004082.5(DCTN1):c.2761-5C>T
|
rs749706596
|
0.00001
|
NM_004082.5(DCTN1):c.2779C>T (p.Arg927Trp)
|
rs758168607
|
0.00001
|
NM_004082.5(DCTN1):c.279+10C>T
|
rs1433805841
|
0.00001
|
NM_004082.5(DCTN1):c.2795G>A (p.Arg932His)
|
rs767725965
|
0.00001
|
NM_004082.5(DCTN1):c.2836G>A (p.Glu946Lys)
|
rs780644304
|
0.00001
|
NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met)
|
rs754893423
|
0.00001
|
NM_004082.5(DCTN1):c.2914C>T (p.Arg972Trp)
|
rs756183069
|
0.00001
|
NM_004082.5(DCTN1):c.2938T>C (p.Leu980=)
|
rs370060938
|
0.00001
|
NM_004082.5(DCTN1):c.2969G>A (p.Arg990His)
|
rs369129714
|
0.00001
|
NM_004082.5(DCTN1):c.3009A>G (p.Ala1003=)
|
rs781233291
|
0.00001
|
NM_004082.5(DCTN1):c.3029+20G>A
|
rs1263362778
|
0.00001
|
NM_004082.5(DCTN1):c.3051T>C (p.Asp1017=)
|
rs1573147984
|
0.00001
|
NM_004082.5(DCTN1):c.3069C>T (p.Ile1023=)
|
rs780292959
|
0.00001
|
NM_004082.5(DCTN1):c.3123C>G (p.Ser1041=)
|
rs769629500
|
0.00001
|
NM_004082.5(DCTN1):c.3152C>T (p.Pro1051Leu)
|
rs746148076
|
0.00001
|
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp)
|
rs764918482
|
0.00001
|
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val)
|
rs759276455
|
0.00001
|
NM_004082.5(DCTN1):c.3196+8C>T
|
rs1288930704
|
0.00001
|
NM_004082.5(DCTN1):c.3197-13A>G
|
rs374049568
|
0.00001
|
NM_004082.5(DCTN1):c.3199G>T (p.Glu1067Ter)
|
rs376996779
|
0.00001
|
NM_004082.5(DCTN1):c.3211+17G>A
|
rs373651754
|
0.00001
|
NM_004082.5(DCTN1):c.3241G>A (p.Val1081Met)
|
rs764028925
|
0.00001
|
NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser)
|
rs201918007
|
0.00001
|
NM_004082.5(DCTN1):c.3254G>A (p.Gly1085Glu)
|
rs1274754432
|
0.00001
|
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=)
|
rs769145486
|
0.00001
|
NM_004082.5(DCTN1):c.3292T>G (p.Ser1098Ala)
|
rs749776779
|
0.00001
|
NM_004082.5(DCTN1):c.32G>A (p.Arg11Gln)
|
rs749196418
|
0.00001
|
NM_004082.5(DCTN1):c.3309C>T (p.His1103=)
|
rs756911555
|
0.00001
|
NM_004082.5(DCTN1):c.3312C>T (p.Ile1104=)
|
rs777452161
|
0.00001
|
NM_004082.5(DCTN1):c.3322C>G (p.Gln1108Glu)
|
rs374567374
|
0.00001
|
NM_004082.5(DCTN1):c.3373T>A (p.Ser1125Thr)
|
rs1191490257
|
0.00001
|
NM_004082.5(DCTN1):c.3440C>T (p.Ala1147Val)
|
rs534309303
|
0.00001
|
NM_004082.5(DCTN1):c.3441G>A (p.Ala1147=)
|
rs760282295
|
0.00001
|
NM_004082.5(DCTN1):c.3448C>T (p.Arg1150Cys)
|
rs1194029274
|
0.00001
|
NM_004082.5(DCTN1):c.3449G>A (p.Arg1150His)
|
rs771822061
|
0.00001
|
NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His)
|
rs747831061
|
0.00001
|
NM_004082.5(DCTN1):c.3502G>A (p.Val1168Ile)
|
rs373550911
|
0.00001
|
NM_004082.5(DCTN1):c.358+12C>T
|
rs759791002
|
0.00001
|
NM_004082.5(DCTN1):c.358+15C>T
|
rs753119702
|
0.00001
|
NM_004082.5(DCTN1):c.359-10C>T
|
rs568747765
|
0.00001
|
NM_004082.5(DCTN1):c.3610-6C>T
|
rs751068198
|
0.00001
|
NM_004082.5(DCTN1):c.3611A>G (p.Asp1204Gly)
|
rs1180149480
|
0.00001
|
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=)
|
rs1032786897
|
0.00001
|
NM_004082.5(DCTN1):c.3641G>A (p.Arg1214His)
|
rs554008879
|
0.00001
|
NM_004082.5(DCTN1):c.3660C>G (p.Pro1220=)
|
rs1346257186
|
0.00001
|
NM_004082.5(DCTN1):c.3666C>T (p.Asp1222=)
|
rs1573138492
|
0.00001
|
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu)
|
rs778307537
|
0.00001
|
NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr)
|
rs748860016
|
0.00001
|
NM_004082.5(DCTN1):c.373A>G (p.Thr125Ala)
|
rs745657856
|
0.00001
|
NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met)
|
rs752784218
|
0.00001
|
NM_004082.5(DCTN1):c.3755G>A (p.Cys1252Tyr)
|
rs773727370
|
0.00001
|
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=)
|
rs886056328
|
0.00001
|
NM_004082.5(DCTN1):c.3760G>T (p.Ala1254Ser)
|
rs772655253
|
0.00001
|
NM_004082.5(DCTN1):c.3781C>T (p.Arg1261Trp)
|
rs768025820
|
0.00001
|
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)
|
rs766653950
|
0.00001
|
NM_004082.5(DCTN1):c.384T>C (p.Thr128=)
|
rs751553167
|
0.00001
|
NM_004082.5(DCTN1):c.396G>C (p.Arg132=)
|
rs1335450210
|
0.00001
|
NM_004082.5(DCTN1):c.414+6G>A
|
rs767853891
|
0.00001
|
NM_004082.5(DCTN1):c.426C>T (p.Ala142=)
|
rs766656845
|
0.00001
|
NM_004082.5(DCTN1):c.427C>T (p.Arg143Ter)
|
rs781290307
|
0.00001
|
NM_004082.5(DCTN1):c.42C>T (p.Ser14=)
|
rs535554555
|
0.00001
|
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser)
|
rs72466482
|
0.00001
|
NM_004082.5(DCTN1):c.443G>A (p.Arg148Gln)
|
rs1359633006
|
0.00001
|
NM_004082.5(DCTN1):c.458C>T (p.Thr153Met)
|
rs1052858105
|
0.00001
|
NM_004082.5(DCTN1):c.459G>A (p.Thr153=)
|
rs773422770
|
0.00001
|
NM_004082.5(DCTN1):c.461G>A (p.Arg154His)
|
rs1398619239
|
0.00001
|
NM_004082.5(DCTN1):c.521C>T (p.Ser174Leu)
|
rs1064797035
|
0.00001
|
NM_004082.5(DCTN1):c.557C>T (p.Pro186Leu)
|
rs916359967
|
0.00001
|
NM_004082.5(DCTN1):c.569C>T (p.Pro190Leu)
|
rs765192491
|
0.00001
|
NM_004082.5(DCTN1):c.585C>T (p.Ile195=)
|
rs1016485773
|
0.00001
|
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val)
|
rs773420384
|
0.00001
|
NM_004082.5(DCTN1):c.623C>T (p.Pro208Leu)
|
rs1461654392
|
0.00001
|
NM_004082.5(DCTN1):c.645+10G>C
|
rs776017204
|
0.00001
|
NM_004082.5(DCTN1):c.646-15G>A
|
rs201438504
|
0.00001
|
NM_004082.5(DCTN1):c.674G>A (p.Arg225Gln)
|
rs1411382364
|
0.00001
|
NM_004082.5(DCTN1):c.676G>A (p.Asp226Asn)
|
rs539287431
|
0.00001
|
NM_004082.5(DCTN1):c.702G>T (p.Leu234=)
|
rs758500443
|
0.00001
|
NM_004082.5(DCTN1):c.759C>T (p.Ile253=)
|
rs1553465355
|
0.00001
|
NM_004082.5(DCTN1):c.81G>A (p.Leu27=)
|
rs780626071
|
0.00001
|
NM_004082.5(DCTN1):c.821G>A (p.Arg274Gln)
|
rs1379544377
|
0.00001
|
NM_004082.5(DCTN1):c.823C>T (p.Arg275Cys)
|
rs775294408
|
0.00001
|
NM_004082.5(DCTN1):c.843+5G>T
|
rs757238618
|
0.00001
|
NM_004082.5(DCTN1):c.843+9C>T
|
rs1031141306
|
0.00001
|
NM_004082.5(DCTN1):c.844-5C>G
|
rs1435999777
|
0.00001
|
NM_004082.5(DCTN1):c.864G>C (p.Glu288Asp)
|
rs1042083899
|
0.00001
|
NM_004082.5(DCTN1):c.90C>T (p.Gly30=)
|
rs932576887
|
0.00001
|
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys)
|
rs751177222
|
0.00001
|
NM_004738.4(VAPB):c.-349G>T
|
rs1198298691
|
0.00001
|
NM_004738.5(VAPB):c.*1022C>A
|
rs1403046933
|
0.00001
|
NM_004738.5(VAPB):c.*1168G>A
|
rs570596321
|
0.00001
|
NM_004738.5(VAPB):c.*1951A>G
|
rs1233509892
|
0.00001
|
NM_004738.5(VAPB):c.*3027A>G
|
rs140832542
|
0.00001
|
NM_004738.5(VAPB):c.*3628A>G
|
rs886056821
|
0.00001
|
NM_004738.5(VAPB):c.*3942C>T
|
rs886056823
|
0.00001
|
NM_004738.5(VAPB):c.*4023A>G
|
rs1345404183
|
0.00001
|
NM_004738.5(VAPB):c.*4240G>C
|
rs554043472
|
0.00001
|
NM_004738.5(VAPB):c.*4929C>T
|
rs761438209
|
0.00001
|
NM_004738.5(VAPB):c.*574G>A
|
rs1203824252
|
0.00001
|
NM_004738.5(VAPB):c.*602G>A
|
rs536862661
|
0.00001
|
NM_004738.5(VAPB):c.*6238T>C
|
rs886056835
|
0.00001
|
NM_004738.5(VAPB):c.*6354G>A
|
rs886056836
|
0.00001
|
NM_004738.5(VAPB):c.*6462G>T
|
rs761969079
|
0.00001
|
NM_004738.5(VAPB):c.*6746C>T
|
rs886056839
|
0.00001
|
NM_004738.5(VAPB):c.*6842A>G
|
rs886056840
|
0.00001
|
NM_004738.5(VAPB):c.*861T>C
|
rs779052440
|
0.00001
|
NM_004738.5(VAPB):c.-12C>T
|
rs886056810
|
0.00001
|
NM_004738.5(VAPB):c.14A>G (p.Glu5Gly)
|
rs748371538
|
0.00001
|
NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys)
|
rs1475473253
|
0.00001
|
NM_004738.5(VAPB):c.315A>G (p.Val105=)
|
rs757744162
|
0.00001
|
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu)
|
rs777316448
|
0.00001
|
NM_004738.5(VAPB):c.333G>A (p.Pro111=)
|
rs762402998
|
0.00001
|
NM_004738.5(VAPB):c.348T>C (p.Asp116=)
|
rs751762415
|
0.00001
|
NM_004738.5(VAPB):c.472A>C (p.Ser158Arg)
|
rs773800478
|
0.00001
|
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys)
|
rs772254840
|
0.00001
|
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys)
|
rs1989149258
|
0.00001
|
NM_004738.5(VAPB):c.58+13G>A
|
rs1987731552
|
0.00001
|
NM_004738.5(VAPB):c.58+9C>T
|
rs1232943562
|
0.00001
|
NM_004738.5(VAPB):c.597G>A (p.Arg199=)
|
rs748793394
|
0.00001
|
NM_004738.5(VAPB):c.622A>G (p.Ile208Val)
|
rs376121617
|
0.00001
|
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg)
|
rs1989222522
|
0.00001
|
NM_004738.5(VAPB):c.681G>A (p.Leu227=)
|
rs778389082
|
0.00001
|
NM_004738.5(VAPB):c.699C>T (p.Ile233=)
|
rs372088559
|
0.00001
|
NM_004928.3(CFAP410):c.642+22G>A
|
rs746114248
|
0.00001
|
NM_004960.3(FUS):c.*1183C>T
|
rs1287894101
|
0.00001
|
NM_004960.3(FUS):c.*1273C>T
|
rs371771617
|
0.00001
|
NM_004960.3(FUS):c.*1409C>T
|
rs537114134
|
0.00001
|
NM_004960.3(FUS):c.*1810C>A
|
rs886051950
|
0.00001
|
NM_004960.3(FUS):c.*1851G>A
|
rs1262725950
|
0.00001
|
NM_004960.3(FUS):c.*1908C>T
|
rs886051952
|
0.00001
|
NM_004960.3(FUS):c.*1916A>G
|
rs759332004
|
0.00001
|
NM_004960.3(FUS):c.*2114T>C
|
rs968946643
|
0.00001
|
NM_004960.3(FUS):c.*2145G>T
|
rs889675456
|
0.00001
|
NM_004960.3(FUS):c.*2348G>A
|
rs775218493
|
0.00001
|
NM_004960.3(FUS):c.*270A>G
|
rs886051939
|
0.00001
|
NM_004960.3(FUS):c.*282G>A
|
rs928323867
|
0.00001
|
NM_004960.3(FUS):c.*2967C>G
|
rs1295852228
|
0.00001
|
NM_004960.3(FUS):c.*3185A>G
|
rs1406314738
|
0.00001
|
NM_004960.3(FUS):c.*457A>G
|
rs184638686
|
0.00001
|
NM_004960.3(FUS):c.*926T>G
|
rs886051943
|
0.00001
|
NM_004960.4(FUS):c.*108C>T
|
rs780606789
|
0.00001
|
NM_004960.4(FUS):c.-51C>T
|
rs571696003
|
0.00001
|
NM_004960.4(FUS):c.1147C>T (p.Arg383Cys)
|
rs776191869
|
0.00001
|
NM_004960.4(FUS):c.1168+6G>C
|
rs750980752
|
0.00001
|
NM_004960.4(FUS):c.1394G>A (p.Gly465Glu)
|
rs141684472
|
0.00001
|
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter)
|
rs387906627
|
0.00001
|
NM_004960.4(FUS):c.1493G>A (p.Arg498Gln)
|
rs781554309
|
0.00001
|
NM_004960.4(FUS):c.1544G>T (p.Gly515Val)
|
rs1307257028
|
0.00001
|
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys)
|
rs121909668
|
0.00001
|
NM_004960.4(FUS):c.174T>C (p.Tyr58=)
|
rs780887876
|
0.00001
|
NM_004960.4(FUS):c.181A>G (p.Ser61Gly)
|
rs1481060391
|
0.00001
|
NM_004960.4(FUS):c.182G>A (p.Ser61Asn)
|
rs777365216
|
0.00001
|
NM_004960.4(FUS):c.191-10A>G
|
rs771990569
|
0.00001
|
NM_004960.4(FUS):c.192A>G (p.Thr64=)
|
rs776333956
|
0.00001
|
NM_004960.4(FUS):c.265T>A (p.Ser89Thr)
|
rs372638663
|
0.00001
|
NM_004960.4(FUS):c.318C>T (p.Pro106=)
|
rs200264709
|
0.00001
|
NM_004960.4(FUS):c.375C>G (p.Pro125=)
|
rs368148475
|
0.00001
|
NM_004960.4(FUS):c.39-12C>T
|
rs1162920137
|
0.00001
|
NM_004960.4(FUS):c.403A>G (p.Ser135Gly)
|
rs886051934
|
0.00001
|
NM_004960.4(FUS):c.616G>A (p.Gly206Ser)
|
rs387906628
|
0.00001
|
NM_004960.4(FUS):c.688G>T (p.Gly230Cys)
|
rs748374535
|
0.00001
|
NM_004960.4(FUS):c.701G>A (p.Arg234His)
|
rs749434237
|
0.00001
|
NM_004960.4(FUS):c.802C>G (p.Pro268Ala)
|
rs1159514550
|
0.00001
|
NM_004960.4(FUS):c.951G>A (p.Thr317=)
|
rs771216742
|
0.00001
|
NM_004960.4(FUS):c.99C>T (p.Tyr33=)
|
rs371503663
|
0.00001
|
NM_005022.4(PFN1):c.37G>A (p.Ala13Thr)
|
rs763837842
|
0.00001
|
NM_005235.3(ERBB4):c.2443A>G (p.Ile815Val)
|
rs778047462
|
0.00001
|
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln)
|
rs397514262
|
0.00001
|
NM_005235.3(ERBB4):c.3176T>C (p.Met1059Thr)
|
rs373685875
|
0.00001
|
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp)
|
rs397514263
|
0.00001
|
NM_005235.3(ERBB4):c.508C>T (p.Pro170Ser)
|
rs1223312722
|
0.00001
|
NM_005235.3(ERBB4):c.655G>A (p.Gly219Ser)
|
rs757597004
|
0.00001
|
NM_005866.4(SIGMAR1):c.*51G>T
|
rs768783740
|
0.00001
|
NM_005866.4(SIGMAR1):c.147C>T (p.Tyr49=)
|
rs1020552197
|
0.00001
|
NM_005866.4(SIGMAR1):c.152-6C>T
|
rs772336092
|
0.00001
|
NM_005866.4(SIGMAR1):c.18C>T (p.Gly6=)
|
rs1479520771
|
0.00001
|
NM_005866.4(SIGMAR1):c.195G>A (p.Leu65=)
|
rs1193231930
|
0.00001
|
NM_005866.4(SIGMAR1):c.208C>T (p.Pro70Ser)
|
rs777565671
|
0.00001
|
NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu)
|
rs773344340
|
0.00001
|
NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val)
|
rs1278952640
|
0.00001
|
NM_005866.4(SIGMAR1):c.303C>T (p.Ser101=)
|
rs59277791
|
0.00001
|
NM_005866.4(SIGMAR1):c.331T>C (p.Leu111=)
|
rs1158511598
|
0.00001
|
NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val)
|
rs1241574813
|
0.00001
|
NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys)
|
rs778413865
|
0.00001
|
NM_005866.4(SIGMAR1):c.366T>C (p.Ala122=)
|
rs754723315
|
0.00001
|
NM_005866.4(SIGMAR1):c.445+13G>A
|
rs1295625431
|
0.00001
|
NM_005866.4(SIGMAR1):c.452C>T (p.Thr151Met)
|
rs745503254
|
0.00001
|
NM_005866.4(SIGMAR1):c.453G>A (p.Thr151=)
|
rs751571040
|
0.00001
|
NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val)
|
rs202244713
|
0.00001
|
NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser)
|
rs1411120179
|
0.00001
|
NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile)
|
rs149409262
|
0.00001
|
NM_005866.4(SIGMAR1):c.575G>A (p.Ser192Asn)
|
rs892812356
|
0.00001
|
NM_005866.4(SIGMAR1):c.61G>A (p.Val21Met)
|
rs1396152845
|
0.00001
|
NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln)
|
rs541996857
|
0.00001
|
NM_005866.4(SIGMAR1):c.639G>A (p.Glu213=)
|
rs779179488
|
0.00001
|
NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe)
|
rs754118993
|
0.00001
|
NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro)
|
rs1254998914
|
0.00001
|
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr)
|
rs368743618
|
0.00001
|
NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)
|
rs730880025
|
0.00001
|
NM_006000.3(TUBA4A):c.959G>A (p.Arg320His)
|
rs730880026
|
0.00001
|
NM_006262.4(PRPH):c.607-1G>A
|
rs781660354
|
0.00001
|
NM_006308.3(HSPB3):c.144C>A (p.Thr48=)
|
rs1318012497
|
0.00001
|
NM_006308.3(HSPB3):c.194G>A (p.Arg65Gln)
|
rs371683736
|
0.00001
|
NM_006308.3(HSPB3):c.246del (p.Glu83fs)
|
rs772319292
|
0.00001
|
NM_006308.3(HSPB3):c.322G>A (p.Gly108Ser)
|
rs369890201
|
0.00001
|
NM_006308.3(HSPB3):c.345C>T (p.Thr115=)
|
rs751654650
|
0.00001
|
NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu)
|
rs746502208
|
0.00001
|
NM_006329.4(FBLN5):c.605G>T (p.Gly202Val)
|
rs137901671
|
0.00001
|
NM_006736.6(DNAJB2):c.*980C>T
|
rs753824788
|
0.00001
|
NM_006736.6(DNAJB2):c.*981G>A
|
rs1295474654
|
0.00001
|
NM_006736.6(DNAJB2):c.147G>A (p.Val49=)
|
rs1213188397
|
0.00001
|
NM_006736.6(DNAJB2):c.156A>G (p.Ala52=)
|
rs748638654
|
0.00001
|
NM_006736.6(DNAJB2):c.175+10G>A
|
rs772494708
|
0.00001
|
NM_006736.6(DNAJB2):c.175+13G>T
|
rs375470108
|
0.00001
|
NM_006736.6(DNAJB2):c.175+9C>T
|
rs776887529
|
0.00001
|
NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp)
|
rs747378005
|
0.00001
|
NM_006736.6(DNAJB2):c.208C>T (p.Arg70Trp)
|
rs773179867
|
0.00001
|
NM_006736.6(DNAJB2):c.229+9A>C
|
rs754628028
|
0.00001
|
NM_006736.6(DNAJB2):c.244C>T (p.Arg82Trp)
|
rs763649673
|
0.00001
|
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=)
|
rs576058376
|
0.00001
|
NM_006736.6(DNAJB2):c.265G>A (p.Gly89Arg)
|
rs1951909003
|
0.00001
|
NM_006736.6(DNAJB2):c.290G>A (p.Arg97His)
|
rs545130842
|
0.00001
|
NM_006736.6(DNAJB2):c.297C>T (p.Pro99=)
|
rs373432472
|
0.00001
|
NM_006736.6(DNAJB2):c.303G>A (p.Glu101=)
|
rs376497742
|
0.00001
|
NM_006736.6(DNAJB2):c.323G>C (p.Gly108Ala)
|
rs763591754
|
0.00001
|
NM_006736.6(DNAJB2):c.345G>C (p.Glu115Asp)
|
rs541289584
|
0.00001
|
NM_006736.6(DNAJB2):c.353-4G>A
|
rs368270286
|
0.00001
|
NM_006736.6(DNAJB2):c.385C>T (p.Arg129Trp)
|
rs373229634
|
0.00001
|
NM_006736.6(DNAJB2):c.386G>A (p.Arg129Gln)
|
rs778575500
|
0.00001
|
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter)
|
rs1182614290
|
0.00001
|
NM_006736.6(DNAJB2):c.41C>T (p.Ala14Val)
|
rs1340065979
|
0.00001
|
NM_006736.6(DNAJB2):c.420C>T (p.Phe140=)
|
rs929490670
|
0.00001
|
NM_006736.6(DNAJB2):c.429C>T (p.Ser143=)
|
rs371047447
|
0.00001
|
NM_006736.6(DNAJB2):c.438G>C (p.Gly146=)
|
rs763259212
|
0.00001
|
NM_006736.6(DNAJB2):c.441C>T (p.His147=)
|
rs1346857510
|
0.00001
|
NM_006736.6(DNAJB2):c.446-17C>G
|
rs760786001
|
0.00001
|
NM_006736.6(DNAJB2):c.469T>G (p.Phe157Val)
|
rs755622620
|
0.00001
|
NM_006736.6(DNAJB2):c.473G>T (p.Ser158Ile)
|
rs780605624
|
0.00001
|
NM_006736.6(DNAJB2):c.494G>A (p.Arg165His)
|
rs769095774
|
0.00001
|
NM_006736.6(DNAJB2):c.530G>A (p.Arg177His)
|
rs762985004
|
0.00001
|
NM_006736.6(DNAJB2):c.533G>A (p.Arg178His)
|
rs202123709
|
0.00001
|
NM_006736.6(DNAJB2):c.559A>T (p.Asn187Tyr)
|
rs1487966162
|
0.00001
|
NM_006736.6(DNAJB2):c.620-22_620-20del
|
rs1064795998
|
0.00001
|
NM_006736.6(DNAJB2):c.622G>A (p.Val208Ile)
|
rs752078357
|
0.00001
|
NM_006736.6(DNAJB2):c.659G>A (p.Arg220His)
|
rs769850234
|
0.00001
|
NM_006736.6(DNAJB2):c.664G>A (p.Glu222Lys)
|
rs201861589
|
0.00001
|
NM_006736.6(DNAJB2):c.73C>T (p.Arg25Cys)
|
rs750175376
|
0.00001
|
NM_006736.6(DNAJB2):c.742G>A (p.Asp248Asn)
|
rs1442415535
|
0.00001
|
NM_006736.6(DNAJB2):c.757G>C (p.Glu253Gln)
|
rs1018405924
|
0.00001
|
NM_006736.6(DNAJB2):c.830G>A (p.Arg277Gln)
|
rs778963579
|
0.00001
|
NM_007126.5(VCP):c.*184G>A
|
rs886063889
|
0.00001
|
NM_007126.5(VCP):c.*885G>A
|
rs925146670
|
0.00001
|
NM_007126.5(VCP):c.1081+8C>T
|
rs763106348
|
0.00001
|
NM_007126.5(VCP):c.1162A>G (p.Met388Val)
|
rs761895823
|
0.00001
|
NM_007126.5(VCP):c.1211A>C (p.His404Pro)
|
rs1359620830
|
0.00001
|
NM_007126.5(VCP):c.1294C>G (p.Leu432Val)
|
rs771751916
|
0.00001
|
NM_007126.5(VCP):c.130-3C>T
|
rs767838037
|
0.00001
|
NM_007126.5(VCP):c.1317C>T (p.Ala439=)
|
rs1009713233
|
0.00001
|
NM_007126.5(VCP):c.1327A>C (p.Asn443His)
|
rs770514866
|
0.00001
|
NM_007126.5(VCP):c.1360-12C>T
|
rs949886024
|
0.00001
|
NM_007126.5(VCP):c.1360-4C>G
|
rs769279961
|
0.00001
|
NM_007126.5(VCP):c.1371C>T (p.Ser457=)
|
rs747614057
|
0.00001
|
NM_007126.5(VCP):c.1401C>T (p.Thr467=)
|
rs916113917
|
0.00001
|
NM_007126.5(VCP):c.1402G>A (p.Val468Met)
|
rs779392075
|
0.00001
|
NM_007126.5(VCP):c.1407A>G (p.Val469=)
|
rs761430933
|
0.00001
|
NM_007126.5(VCP):c.1437C>T (p.Ile479=)
|
rs778069672
|
0.00001
|
NM_007126.5(VCP):c.1459C>T (p.Arg487Cys)
|
rs752765916
|
0.00001
|
NM_007126.5(VCP):c.1460G>A (p.Arg487His)
|
rs767379602
|
0.00001
|
NM_007126.5(VCP):c.1474C>T (p.Leu492=)
|
rs1203880418
|
0.00001
|
NM_007126.5(VCP):c.147G>A (p.Leu49=)
|
rs1359551592
|
0.00001
|
NM_007126.5(VCP):c.1482+9A>G
|
rs766140133
|
0.00001
|
NM_007126.5(VCP):c.1483-20C>T
|
rs1383725061
|
0.00001
|
NM_007126.5(VCP):c.1512G>A (p.Leu504=)
|
rs200548800
|
0.00001
|
NM_007126.5(VCP):c.1521C>T (p.Gly507=)
|
rs180999023
|
0.00001
|
NM_007126.5(VCP):c.1566T>C (p.Cys522=)
|
rs1828698940
|
0.00001
|
NM_007126.5(VCP):c.1695+11A>G
|
rs767026681
|
0.00001
|
NM_007126.5(VCP):c.1696-4A>G
|
rs963637081
|
0.00001
|
NM_007126.5(VCP):c.1696-8T>C
|
rs1401092893
|
0.00001
|
NM_007126.5(VCP):c.1768A>G (p.Ile590Val)
|
rs1255802734
|
0.00001
|
NM_007126.5(VCP):c.1776T>C (p.Asp592=)
|
rs768951162
|
0.00001
|
NM_007126.5(VCP):c.18-4C>G
|
rs1563981227
|
0.00001
|
NM_007126.5(VCP):c.1887T>C (p.Ile629=)
|
rs777402266
|
0.00001
|
NM_007126.5(VCP):c.1973A>C (p.Lys658Thr)
|
rs1284380722
|
0.00001
|
NM_007126.5(VCP):c.1985G>A (p.Arg662His)
|
rs762185724
|
0.00001
|
NM_007126.5(VCP):c.1996G>A (p.Val666Ile)
|
rs754268174
|
0.00001
|
NM_007126.5(VCP):c.2028T>C (p.Ala676=)
|
rs1828671869
|
0.00001
|
NM_007126.5(VCP):c.2052A>G (p.Gly684=)
|
rs753011642
|
0.00001
|
NM_007126.5(VCP):c.2126G>A (p.Arg709Gln)
|
rs746617777
|
0.00001
|
NM_007126.5(VCP):c.2132G>A (p.Arg711Gln)
|
rs779670266
|
0.00001
|
NM_007126.5(VCP):c.213C>T (p.Val71=)
|
rs1195805928
|
0.00001
|
NM_007126.5(VCP):c.2160+8T>G
|
rs564249854
|
0.00001
|
NM_007126.5(VCP):c.2194C>T (p.Arg732Cys)
|
rs758602597
|
0.00001
|
NM_007126.5(VCP):c.2316-8G>A
|
rs1440311672
|
0.00001
|
NM_007126.5(VCP):c.278G>A (p.Arg93His)
|
rs779959657
|
0.00001
|
NM_007126.5(VCP):c.284G>A (p.Arg95His)
|
rs758169026
|
0.00001
|
NM_007126.5(VCP):c.302+12G>A
|
rs1293215454
|
0.00001
|
NM_007126.5(VCP):c.303-3C>T
|
rs1183711292
|
0.00001
|
NM_007126.5(VCP):c.312A>G (p.Pro104=)
|
rs1484541220
|
0.00001
|
NM_007126.5(VCP):c.331G>A (p.Gly111Ser)
|
rs752038734
|
0.00001
|
NM_007126.5(VCP):c.335A>G (p.Lys112Arg)
|
rs766787045
|
0.00001
|
NM_007126.5(VCP):c.349C>T (p.Leu117=)
|
rs761887444
|
0.00001
|
NM_007126.5(VCP):c.351G>T (p.Leu117=)
|
rs1014455703
|
0.00001
|
NM_007126.5(VCP):c.418C>T (p.Leu140=)
|
rs778524417
|
0.00001
|
NM_007126.5(VCP):c.41C>T (p.Thr14Ile)
|
rs1219381953
|
0.00001
|
NM_007126.5(VCP):c.426G>A (p.Ala142=)
|
rs577812326
|
0.00001
|
NM_007126.5(VCP):c.446-15T>C
|
rs374074931
|
0.00001
|
NM_007126.5(VCP):c.446-4G>A
|
rs370700002
|
0.00001
|
NM_007126.5(VCP):c.451A>G (p.Ile151Val)
|
rs367881889
|
0.00001
|
NM_007126.5(VCP):c.465T>G (p.Arg155=)
|
rs765140312
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_007126.5(VCP):c.519T>C (p.Tyr173=)
|
rs762659353
|
0.00001
|
NM_007126.5(VCP):c.577-9C>T
|
rs1389133643
|
0.00001
|
NM_007126.5(VCP):c.618T>C (p.Ile206=)
|
rs1471384169
|
0.00001
|
NM_007126.5(VCP):c.628A>C (p.Arg210=)
|
rs755168304
|
0.00001
|
NM_007126.5(VCP):c.62A>G (p.Asn21Ser)
|
rs1409460709
|
0.00001
|
NM_007126.5(VCP):c.675A>G (p.Arg225=)
|
rs780139186
|
0.00001
|
NM_007126.5(VCP):c.697A>G (p.Ile233Val)
|
rs750335399
|
0.00001
|
NM_007126.5(VCP):c.702T>C (p.Gly234=)
|
rs765086841
|
0.00001
|
NM_007126.5(VCP):c.708+14G>T
|
rs753574871
|
0.00001
|
NM_007126.5(VCP):c.711T>G (p.Pro237=)
|
rs755771885
|
0.00001
|
NM_007126.5(VCP):c.73C>T (p.Arg25Trp)
|
rs920962883
|
0.00001
|
NM_007126.5(VCP):c.804G>A (p.Leu268=)
|
rs369094157
|
0.00001
|
NM_007126.5(VCP):c.87T>C (p.Asp29=)
|
rs1828873065
|
0.00001
|
NM_007126.5(VCP):c.897C>G (p.Ala299=)
|
rs974283155
|
0.00001
|
NM_007126.5(VCP):c.975A>G (p.Val325=)
|
rs749849000
|
0.00001
|
NM_007375.4(TARDBP):c.*2046T>G
|
rs886045047
|
0.00001
|
NM_007375.4(TARDBP):c.*2252A>G
|
rs552057039
|
0.00001
|
NM_007375.4(TARDBP):c.*2750G>A
|
rs779882516
|
0.00001
|
NM_007375.4(TARDBP):c.*551C>G
|
rs750948407
|
0.00001
|
NM_007375.4(TARDBP):c.*556G>A
|
rs776417983
|
0.00001
|
NM_007375.4(TARDBP):c.*591G>A
|
rs759396520
|
0.00001
|
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)
|
rs80356730
|
0.00001
|
NM_007375.4(TARDBP):c.1015A>G (p.Met339Val)
|
rs1162800752
|
0.00001
|
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys)
|
rs80356732
|
0.00001
|
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)
|
rs80356741
|
0.00001
|
NM_007375.4(TARDBP):c.162C>T (p.Val54=)
|
rs751073315
|
0.00001
|
NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser)
|
rs142913423
|
0.00001
|
NM_007375.4(TARDBP):c.402+19A>G
|
rs200818944
|
0.00001
|
NM_007375.4(TARDBP):c.411A>G (p.Lys137=)
|
rs766028449
|
0.00001
|
NM_007375.4(TARDBP):c.499A>G (p.Met167Val)
|
rs886045035
|
0.00001
|
NM_007375.4(TARDBP):c.543+9G>A
|
rs370342366
|
0.00001
|
NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys)
|
rs956150244
|
0.00001
|
NM_007375.4(TARDBP):c.622C>A (p.Arg208=)
|
rs1643615862
|
0.00001
|
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)
|
rs80356719
|
0.00001
|
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)
|
rs80356721
|
0.00001
|
NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser)
|
rs1419402299
|
0.00001
|
NM_007375.4(TARDBP):c.931A>G (p.Met311Val)
|
rs80356725
|
0.00001
|
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr)
|
rs763874949
|
0.00001
|
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)
|
rs1328949478
|
0.00001
|
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp)
|
rs753595352
|
0.00001
|
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu)
|
rs756751089
|
0.00001
|
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)
|
rs142030898
|
0.00001
|
NM_013254.4(TBK1):c.1340+13T>C
|
rs1010954287
|
0.00001
|
NM_013254.4(TBK1):c.1340+8A>G
|
rs2040817313
|
0.00001
|
NM_013254.4(TBK1):c.1422C>T (p.Asn474=)
|
rs747788401
|
0.00001
|
NM_013254.4(TBK1):c.1443A>T (p.Val481=)
|
rs1396706988
|
0.00001
|
NM_013254.4(TBK1):c.1476G>A (p.Ala492=)
|
rs139653737
|
0.00001
|
NM_013254.4(TBK1):c.1505A>G (p.His502Arg)
|
rs1206925876
|
0.00001
|
NM_013254.4(TBK1):c.1584A>G (p.Pro528=)
|
rs1592375893
|
0.00001
|
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val)
|
rs768023625
|
0.00001
|
NM_013254.4(TBK1):c.1960-19_1960-18insC
|
rs1213123906
|
0.00001
|
NM_013254.4(TBK1):c.2047T>C (p.Leu683=)
|
rs369067312
|
0.00001
|
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys)
|
rs748112833
|
0.00001
|
NM_013254.4(TBK1):c.301C>G (p.Pro101Ala)
|
rs371955059
|
0.00001
|
NM_013254.4(TBK1):c.380G>A (p.Arg127Gln)
|
rs1337698475
|
0.00001
|
NM_013254.4(TBK1):c.381A>C (p.Arg127=)
|
rs749847349
|
0.00001
|
NM_013254.4(TBK1):c.421dup (p.Ile141fs)
|
rs1565814492
|
0.00001
|
NM_013254.4(TBK1):c.437G>C (p.Gly146Ala)
|
rs41292021
|
0.00001
|
NM_013254.4(TBK1):c.438G>A (p.Gly146=)
|
rs751439290
|
0.00001
|
NM_013254.4(TBK1):c.51A>G (p.Gln17=)
|
rs769584803
|
0.00001
|
NM_013254.4(TBK1):c.540+8_540+9del
|
rs761043079
|
0.00001
|
NM_013254.4(TBK1):c.683G>A (p.Arg228His)
|
rs748622208
|
0.00001
|
NM_013254.4(TBK1):c.734C>T (p.Ala245Val)
|
rs751890932
|
0.00001
|
NM_013254.4(TBK1):c.829C>G (p.Leu277Val)
|
rs905184241
|
0.00001
|
NM_013254.4(TBK1):c.88-9T>C
|
rs758061744
|
0.00001
|
NM_013254.4(TBK1):c.945G>A (p.Ser315=)
|
rs775905530
|
0.00001
|
NM_013254.4(TBK1):c.962C>T (p.Ala321Val)
|
rs762705031
|
0.00001
|
NM_013254.4(TBK1):c.992+1G>A
|
rs1341055534
|
0.00001
|
NM_013444.4(UBQLN2):c.*1171T>A
|
rs937418356
|
0.00001
|
NM_013444.4(UBQLN2):c.*16T>C
|
rs1057515977
|
0.00001
|
NM_013444.4(UBQLN2):c.*661A>T
|
rs1001391381
|
0.00001
|
NM_013444.4(UBQLN2):c.1031A>G (p.Asn344Ser)
|
rs779133675
|
0.00001
|
NM_013444.4(UBQLN2):c.1170C>T (p.Pro390=)
|
rs1057515976
|
0.00001
|
NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg)
|
rs1243726473
|
0.00001
|
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu)
|
rs763131369
|
0.00001
|
NM_013444.4(UBQLN2):c.1329A>G (p.Leu443=)
|
rs766621093
|
0.00001
|
NM_013444.4(UBQLN2):c.1516C>T (p.Pro506Ser)
|
rs387906711
|
0.00001
|
NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp)
|
rs1343347647
|
0.00001
|
NM_013444.4(UBQLN2):c.1714G>A (p.Ala572Thr)
|
rs1293533801
|
0.00001
|
NM_013444.4(UBQLN2):c.1727C>A (p.Pro576Gln)
|
rs1569254665
|
0.00001
|
NM_013444.4(UBQLN2):c.1734A>G (p.Pro578=)
|
rs1271440811
|
0.00001
|
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=)
|
rs778382794
|
0.00001
|
NM_013444.4(UBQLN2):c.717G>A (p.Arg239=)
|
rs762742451
|
0.00001
|
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys)
|
rs1330837640
|
0.00001
|
NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro)
|
rs1459753673
|
0.00001
|
NM_014043.4(CHMP2B):c.*1482T>A
|
rs910263560
|
0.00001
|
NM_014043.4(CHMP2B):c.*901T>C
|
rs1014335812
|
0.00001
|
NM_014043.4(CHMP2B):c.-144C>T
|
rs1441064038
|
0.00001
|
NM_014043.4(CHMP2B):c.-205C>T
|
rs556556377
|
0.00001
|
NM_014043.4(CHMP2B):c.-34G>A
|
rs199854996
|
0.00001
|
NM_014043.4(CHMP2B):c.126+4A>G
|
rs369912013
|
0.00001
|
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg)
|
rs143800051
|
0.00001
|
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu)
|
rs745754634
|
0.00001
|
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp)
|
rs553846327
|
0.00001
|
NM_014043.4(CHMP2B):c.21G>A (p.Lys7=)
|
rs1364419230
|
0.00001
|
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met)
|
rs1295215037
|
0.00001
|
NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile)
|
rs202143621
|
0.00001
|
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu)
|
rs369257752
|
0.00001
|
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter)
|
rs63751048
|
0.00001
|
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter)
|
rs763615051
|
0.00001
|
NM_014365.3(HSPB8):c.*67T>G
|
rs886049026
|
0.00001
|
NM_014365.3(HSPB8):c.-172G>C
|
rs886049025
|
0.00001
|
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)
|
rs1011669872
|
0.00001
|
NM_014365.3(HSPB8):c.269C>T (p.Pro90Leu)
|
rs1565927080
|
0.00001
|
NM_014845.6(FIG4):c.-124A>G
|
rs544958043
|
0.00001
|
NM_014845.6(FIG4):c.-134C>G
|
rs560811735
|
0.00001
|
NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln)
|
rs749233172
|
0.00001
|
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr)
|
rs751399063
|
0.00001
|
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)
|
rs1274229885
|
0.00001
|
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)
|
rs375414729
|
0.00001
|
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu)
|
rs201375273
|
0.00001
|
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu)
|
rs774805375
|
0.00001
|
NM_014845.6(FIG4):c.524T>C (p.Leu175Pro)
|
rs397514707
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_015046.7(SETX):c.*13A>T
|
rs1204954131
|
0.00001
|
NM_015046.7(SETX):c.*1420A>T
|
rs751833631
|
0.00001
|
NM_015046.7(SETX):c.*1722A>G
|
rs963398615
|
0.00001
|
NM_015046.7(SETX):c.*2232T>C
|
rs545456048
|
0.00001
|
NM_015046.7(SETX):c.*2287T>C
|
rs1842428001
|
0.00001
|
NM_015046.7(SETX):c.*869C>T
|
rs1354270999
|
0.00001
|
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala)
|
rs999767103
|
0.00001
|
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)
|
rs768198537
|
0.00001
|
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)
|
rs772044862
|
0.00001
|
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)
|
rs778488721
|
0.00001
|
NM_015046.7(SETX):c.1398T>G (p.Ile466Met)
|
rs927783972
|
0.00001
|
NM_015046.7(SETX):c.1438G>T (p.Val480Leu)
|
rs377301250
|
0.00001
|
NM_015046.7(SETX):c.1479C>T (p.Ala493=)
|
rs771289068
|
0.00001
|
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)
|
rs750044197
|
0.00001
|
NM_015046.7(SETX):c.1561C>T (p.Leu521=)
|
rs148638979
|
0.00001
|
NM_015046.7(SETX):c.167T>C (p.Phe56Ser)
|
rs1032816797
|
0.00001
|
NM_015046.7(SETX):c.1714C>G (p.Leu572Val)
|
rs1482836809
|
0.00001
|
NM_015046.7(SETX):c.172C>T (p.His58Tyr)
|
rs757760067
|
0.00001
|
NM_015046.7(SETX):c.177+18G>A
|
rs201574662
|
0.00001
|
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala)
|
rs957434595
|
0.00001
|
NM_015046.7(SETX):c.1833A>G (p.Ala611=)
|
rs751829537
|
0.00001
|
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys)
|
rs773035724
|
0.00001
|
NM_015046.7(SETX):c.1889C>T (p.Thr630Met)
|
rs749132753
|
0.00001
|
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu)
|
rs1015257691
|
0.00001
|
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)
|
rs773195802
|
0.00001
|
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)
|
rs780898043
|
0.00001
|
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)
|
rs143727702
|
0.00001
|
NM_015046.7(SETX):c.202C>T (p.Arg68Cys)
|
rs771481623
|
0.00001
|
NM_015046.7(SETX):c.208A>G (p.Ile70Val)
|
rs747469176
|
0.00001
|
NM_015046.7(SETX):c.2116A>G (p.Lys706Glu)
|
rs776432277
|
0.00001
|
NM_015046.7(SETX):c.2119A>G (p.Ile707Val)
|
rs1419145387
|
0.00001
|
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)
|
rs750530263
|
0.00001
|
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)
|
rs780121182
|
0.00001
|
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)
|
rs922821119
|
0.00001
|
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)
|
rs745938575
|
0.00001
|
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
|
rs373647065
|
0.00001
|
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu)
|
rs771954896
|
0.00001
|
NM_015046.7(SETX):c.2427C>G (p.Ile809Met)
|
rs765654690
|
0.00001
|
NM_015046.7(SETX):c.245G>A (p.Gly82Glu)
|
rs201864041
|
0.00001
|
NM_015046.7(SETX):c.2552A>T (p.Asp851Val)
|
rs375242350
|
0.00001
|
NM_015046.7(SETX):c.2607_2609del (p.Lys870del)
|
rs781159054
|
0.00001
|
NM_015046.7(SETX):c.2749A>C (p.Met917Leu)
|
rs761943404
|
0.00001
|
NM_015046.7(SETX):c.2779A>G (p.Met927Val)
|
rs886063556
|
0.00001
|
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)
|
rs770694223
|
0.00001
|
NM_015046.7(SETX):c.27A>G (p.Pro9=)
|
rs761487448
|
0.00001
|
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala)
|
rs1375463032
|
0.00001
|
NM_015046.7(SETX):c.2914A>G (p.Ser972Gly)
|
rs1354775471
|
0.00001
|
NM_015046.7(SETX):c.2934C>T (p.Ser978=)
|
rs144154512
|
0.00001
|
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)
|
rs1285317289
|
0.00001
|
NM_015046.7(SETX):c.3018A>C (p.Gly1006=)
|
rs997364371
|
0.00001
|
NM_015046.7(SETX):c.301A>G (p.Ile101Val)
|
rs376848704
|
0.00001
|
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)
|
rs766799023
|
0.00001
|
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile)
|
rs773068299
|
0.00001
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr)
|
rs200856903
|
0.00001
|
NM_015046.7(SETX):c.304A>G (p.Thr102Ala)
|
rs770962447
|
0.00001
|
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn)
|
rs1846998334
|
0.00001
|
NM_015046.7(SETX):c.3099C>T (p.Leu1033=)
|
rs755461440
|
0.00001
|
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly)
|
rs752140967
|
0.00001
|
NM_015046.7(SETX):c.3294C>T (p.Asp1098=)
|
rs61732723
|
0.00001
|
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)
|
rs545072717
|
0.00001
|
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)
|
rs1564541841
|
0.00001
|
NM_015046.7(SETX):c.3351T>C (p.Thr1117=)
|
rs1846972454
|
0.00001
|
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp)
|
rs200072123
|
0.00001
|
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys)
|
rs778505279
|
0.00001
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)
|
rs375796832
|
0.00001
|
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp)
|
rs1297541939
|
0.00001
|
NM_015046.7(SETX):c.3525G>A (p.Arg1175=)
|
rs1353053473
|
0.00001
|
NM_015046.7(SETX):c.3603T>C (p.Ile1201=)
|
rs565774066
|
0.00001
|
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe)
|
rs750526955
|
0.00001
|
NM_015046.7(SETX):c.36T>C (p.Ala12=)
|
rs1198947358
|
0.00001
|
NM_015046.7(SETX):c.3723C>A (p.Thr1241=)
|
rs367828971
|
0.00001
|
NM_015046.7(SETX):c.372T>G (p.Leu124=)
|
rs1263479038
|
0.00001
|
NM_015046.7(SETX):c.3780A>G (p.Leu1260=)
|
rs375854407
|
0.00001
|
NM_015046.7(SETX):c.3802A>G (p.Ile1268Val)
|
rs764516725
|
0.00001
|
NM_015046.7(SETX):c.3813A>G (p.Pro1271=)
|
rs759945253
|
0.00001
|
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys)
|
rs760272692
|
0.00001
|
NM_015046.7(SETX):c.382C>T (p.Arg128Cys)
|
rs552476047
|
0.00001
|
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)
|
rs886063554
|
0.00001
|
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys)
|
rs773999398
|
0.00001
|
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu)
|
rs146407699
|
0.00001
|
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)
|
rs1564539457
|
0.00001
|
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu)
|
rs756823072
|
0.00001
|
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg)
|
rs778111855
|
0.00001
|
NM_015046.7(SETX):c.4283A>G (p.His1428Arg)
|
rs778236359
|
0.00001
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr)
|
rs759545112
|
0.00001
|
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr)
|
rs772466321
|
0.00001
|
NM_015046.7(SETX):c.4563A>G (p.Glu1521=)
|
rs374149839
|
0.00001
|
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val)
|
rs558075773
|
0.00001
|
NM_015046.7(SETX):c.4707T>C (p.Ser1569=)
|
rs769964668
|
0.00001
|
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys)
|
rs752179261
|
0.00001
|
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu)
|
rs1165229035
|
0.00001
|
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser)
|
rs916634082
|
0.00001
|
NM_015046.7(SETX):c.484C>T (p.His162Tyr)
|
rs1186709340
|
0.00001
|
NM_015046.7(SETX):c.4860T>G (p.Leu1620=)
|
rs758938142
|
0.00001
|
NM_015046.7(SETX):c.4872A>G (p.Leu1624=)
|
rs567475841
|
0.00001
|
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu)
|
rs1362908917
|
0.00001
|
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met)
|
rs1466879487
|
0.00001
|
NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro)
|
rs142509544
|
0.00001
|
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser)
|
rs567825753
|
0.00001
|
NM_015046.7(SETX):c.4971T>C (p.Asn1657=)
|
rs1159266524
|
0.00001
|
NM_015046.7(SETX):c.4989T>A (p.Ser1663=)
|
rs185338915
|
0.00001
|
NM_015046.7(SETX):c.499-10C>T
|
rs1444405452
|
0.00001
|
NM_015046.7(SETX):c.499-9T>C
|
rs760214195
|
0.00001
|
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys)
|
rs762808367
|
0.00001
|
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn)
|
rs770527045
|
0.00001
|
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile)
|
rs752646721
|
0.00001
|
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)
|
rs758411198
|
0.00001
|
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr)
|
rs766799310
|
0.00001
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
0.00001
|
NM_015046.7(SETX):c.5431G>A (p.Val1811Met)
|
rs947336270
|
0.00001
|
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile)
|
rs763771426
|
0.00001
|
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu)
|
rs1249423284
|
0.00001
|
NM_015046.7(SETX):c.5501A>G (p.His1834Arg)
|
rs770822383
|
0.00001
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
NM_015046.7(SETX):c.5548+17G>A
|
rs1313333580
|
0.00001
|
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg)
|
rs377620145
|
0.00001
|
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser)
|
rs747493129
|
0.00001
|
NM_015046.7(SETX):c.5661A>G (p.Gln1887=)
|
rs1589671916
|
0.00001
|
NM_015046.7(SETX):c.5697G>A (p.Arg1899=)
|
rs765849036
|
0.00001
|
NM_015046.7(SETX):c.5719C>T (p.Leu1907=)
|
rs767373911
|
0.00001
|
NM_015046.7(SETX):c.571G>A (p.Glu191Lys)
|
rs929798338
|
0.00001
|
NM_015046.7(SETX):c.5782-6A>G
|
rs781129157
|
0.00001
|
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)
|
rs200571606
|
0.00001
|
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser)
|
rs762791927
|
0.00001
|
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val)
|
rs1009296937
|
0.00001
|
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr)
|
rs141440621
|
0.00001
|
NM_015046.7(SETX):c.5901A>G (p.Thr1967=)
|
rs780717865
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_015046.7(SETX):c.5936G>A (p.Arg1979His)
|
rs761031238
|
0.00001
|
NM_015046.7(SETX):c.5950-14G>A
|
rs375632375
|
0.00001
|
NM_015046.7(SETX):c.5970A>G (p.Ser1990=)
|
rs1844648216
|
0.00001
|
NM_015046.7(SETX):c.5973C>T (p.Asp1991=)
|
rs1210056357
|
0.00001
|
NM_015046.7(SETX):c.598A>G (p.Ile200Val)
|
rs1368588434
|
0.00001
|
NM_015046.7(SETX):c.6024T>C (p.Pro2008=)
|
rs1045096306
|
0.00001
|
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)
|
rs546932016
|
0.00001
|
NM_015046.7(SETX):c.6106+13T>C
|
rs370909687
|
0.00001
|
NM_015046.7(SETX):c.6107-5A>G
|
rs1284217475
|
0.00001
|
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln)
|
rs747309962
|
0.00001
|
NM_015046.7(SETX):c.617A>G (p.Glu206Gly)
|
rs759880306
|
0.00001
|
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu)
|
rs755531730
|
0.00001
|
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)
|
rs751252138
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.6351C>T (p.Ser2117=)
|
rs200269892
|
0.00001
|
NM_015046.7(SETX):c.6474T>C (p.Ser2158=)
|
rs1216377543
|
0.00001
|
NM_015046.7(SETX):c.64G>A (p.Ala22Thr)
|
rs756600708
|
0.00001
|
NM_015046.7(SETX):c.6546+18C>G
|
rs915871195
|
0.00001
|
NM_015046.7(SETX):c.6654+12A>G
|
rs1015821444
|
0.00001
|
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu)
|
rs752107891
|
0.00001
|
NM_015046.7(SETX):c.6771G>A (p.Gln2257=)
|
rs778895541
|
0.00001
|
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)
|
rs148041889
|
0.00001
|
NM_015046.7(SETX):c.6804T>A (p.Pro2268=)
|
rs145236863
|
0.00001
|
NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr)
|
rs1421665944
|
0.00001
|
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp)
|
rs1843269972
|
0.00001
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly)
|
rs370135596
|
0.00001
|
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu)
|
rs781671592
|
0.00001
|
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn)
|
rs141657462
|
0.00001
|
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met)
|
rs201629099
|
0.00001
|
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)
|
rs1420833435
|
0.00001
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
NM_015046.7(SETX):c.7199+8A>G
|
rs747893697
|
0.00001
|
NM_015046.7(SETX):c.71A>G (p.Asn24Ser)
|
rs981346599
|
0.00001
|
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp)
|
rs912160285
|
0.00001
|
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)
|
rs1382990384
|
0.00001
|
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)
|
rs760196991
|
0.00001
|
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg)
|
rs183776349
|
0.00001
|
NM_015046.7(SETX):c.7473C>T (p.Pro2491=)
|
rs1173009713
|
0.00001
|
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr)
|
rs1842557730
|
0.00001
|
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg)
|
rs755711135
|
0.00001
|
NM_015046.7(SETX):c.7590T>A (p.Pro2530=)
|
rs1374204163
|
0.00001
|
NM_015046.7(SETX):c.765C>A (p.Ser255=)
|
rs774297687
|
0.00001
|
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg)
|
rs756715534
|
0.00001
|
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)
|
rs1240232139
|
0.00001
|
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)
|
rs145345675
|
0.00001
|
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr)
|
rs146862359
|
0.00001
|
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala)
|
rs905773255
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val)
|
rs144706487
|
0.00001
|
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)
|
rs779793402
|
0.00001
|
NM_015046.7(SETX):c.808A>G (p.Ile270Val)
|
rs1387745582
|
0.00001
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
0.00001
|
NM_015046.7(SETX):c.823G>A (p.Glu275Lys)
|
rs901741485
|
0.00001
|
NM_015046.7(SETX):c.865G>A (p.Ala289Thr)
|
rs775579797
|
0.00001
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
NM_015046.7(SETX):c.964G>A (p.Ala322Thr)
|
rs540348550
|
0.00001
|
NM_015046.7(SETX):c.980A>T (p.Glu327Val)
|
rs1315992594
|
0.00001
|
NM_015046.7(SETX):c.998A>G (p.Asn333Ser)
|
rs538829833
|
0.00001
|
NM_015046.7(SETX):c.99C>T (p.Ala33=)
|
rs762914576
|
0.00001
|
NM_016042.4(EXOSC3):c.*312T>G
|
rs1044154281
|
0.00001
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
NM_016042.4(EXOSC3):c.336A>G (p.Val112=)
|
rs1459576809
|
0.00001
|
NM_016042.4(EXOSC3):c.405G>T (p.Gly135=)
|
rs1828647334
|
0.00001
|
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)
|
rs387907195
|
0.00001
|
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)
|
rs748839685
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_016042.4(EXOSC3):c.813A>G (p.Arg271=)
|
rs373942170
|
0.00001
|
NM_016955.4(SEPSECS):c.*1008T>C
|
rs375166577
|
0.00001
|
NM_016955.4(SEPSECS):c.*2921A>G
|
rs1407421050
|
0.00001
|
NM_016955.4(SEPSECS):c.*354C>T
|
rs572862359
|
0.00001
|
NM_016955.4(SEPSECS):c.1148dup (p.His383fs)
|
rs761072755
|
0.00001
|
NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg)
|
rs1577598082
|
0.00001
|
NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile)
|
rs753701192
|
0.00001
|
NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=)
|
rs921485863
|
0.00001
|
NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys)
|
rs373439857
|
0.00001
|
NM_016955.4(SEPSECS):c.264T>A (p.His88Gln)
|
rs756402081
|
0.00001
|
NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp)
|
rs1004182733
|
0.00001
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter)
|
rs779387647
|
0.00001
|
NM_018325.5(C9orf72):c.*224C>G
|
rs1333786274
|
0.00001
|
NM_018325.5(C9orf72):c.*250T>C
|
rs886063840
|
0.00001
|
NM_018325.5(C9orf72):c.*552A>C
|
rs886063837
|
0.00001
|
NM_018325.5(C9orf72):c.*651G>T
|
rs548883941
|
0.00001
|
NM_018325.5(C9orf72):c.1002C>T (p.Ser334=)
|
rs780494226
|
0.00001
|
NM_018325.5(C9orf72):c.1259+8A>C
|
rs182259442
|
0.00001
|
NM_018325.5(C9orf72):c.1424G>A (p.Arg475Gln)
|
rs750045383
|
0.00001
|
NM_018325.5(C9orf72):c.985C>T (p.Arg329Cys)
|
rs773251849
|
0.00001
|
NM_018834.6(MATR3):c.*1111T>C
|
rs772678059
|
0.00001
|
NM_018834.6(MATR3):c.*1891T>G
|
rs886060001
|
0.00001
|
NM_018834.6(MATR3):c.*2142G>A
|
rs1561950387
|
0.00001
|
NM_018834.6(MATR3):c.*2194T>A
|
rs760576225
|
0.00001
|
NM_018834.6(MATR3):c.*305A>C
|
rs563125595
|
0.00001
|
NM_018834.6(MATR3):c.*493T>C
|
rs972728364
|
0.00001
|
NM_018834.6(MATR3):c.*60A>G
|
rs886059993
|
0.00001
|
NM_018834.6(MATR3):c.*97C>G
|
rs769044248
|
0.00001
|
NM_018834.6(MATR3):c.-5C>G
|
rs375381025
|
0.00001
|
NM_018834.6(MATR3):c.1130-9C>T
|
rs760841083
|
0.00001
|
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser)
|
rs948428305
|
0.00001
|
NM_018834.6(MATR3):c.1179A>G (p.Arg393=)
|
rs747566193
|
0.00001
|
NM_018834.6(MATR3):c.1187C>G (p.Thr396Ser)
|
rs1755320528
|
0.00001
|
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys)
|
rs1291862870
|
0.00001
|
NM_018834.6(MATR3):c.1348G>A (p.Ala450Thr)
|
rs779612686
|
0.00001
|
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala)
|
rs781213918
|
0.00001
|
NM_018834.6(MATR3):c.1401A>G (p.Arg467=)
|
rs774463869
|
0.00001
|
NM_018834.6(MATR3):c.1404T>C (p.Val468=)
|
rs1429293984
|
0.00001
|
NM_018834.6(MATR3):c.1435-10T>C
|
rs772340385
|
0.00001
|
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu)
|
rs777025841
|
0.00001
|
NM_018834.6(MATR3):c.1512G>A (p.Pro504=)
|
rs777712375
|
0.00001
|
NM_018834.6(MATR3):c.15C>T (p.Phe5=)
|
rs184609870
|
0.00001
|
NM_018834.6(MATR3):c.1603-9C>A
|
rs188764121
|
0.00001
|
NM_018834.6(MATR3):c.1636A>G (p.Met546Val)
|
rs1412628714
|
0.00001
|
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile)
|
rs748592981
|
0.00001
|
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala)
|
rs587777301
|
0.00001
|
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr)
|
rs1488614478
|
0.00001
|
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)
|
rs772231433
|
0.00001
|
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del)
|
rs1186297721
|
0.00001
|
NM_018834.6(MATR3):c.1938G>A (p.Gln646=)
|
rs755732018
|
0.00001
|
NM_018834.6(MATR3):c.1947T>C (p.Asn649=)
|
rs777432521
|
0.00001
|
NM_018834.6(MATR3):c.1949T>C (p.Met650Thr)
|
rs1176347654
|
0.00001
|
NM_018834.6(MATR3):c.1953T>C (p.Leu651=)
|
rs770765421
|
0.00001
|
NM_018834.6(MATR3):c.1997C>T (p.Ala666Val)
|
rs1261252930
|
0.00001
|
NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu)
|
rs1228960452
|
0.00001
|
NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu)
|
rs759928245
|
0.00001
|
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys)
|
rs764645698
|
0.00001
|
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser)
|
rs1468138513
|
0.00001
|
NM_018834.6(MATR3):c.2181C>T (p.Asn727=)
|
rs772833565
|
0.00001
|
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly)
|
rs538917496
|
0.00001
|
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser)
|
rs1452954379
|
0.00001
|
NM_018834.6(MATR3):c.2238A>G (p.Glu746=)
|
rs747456128
|
0.00001
|
NM_018834.6(MATR3):c.2265C>T (p.Asn755=)
|
rs1361987333
|
0.00001
|
NM_018834.6(MATR3):c.2271T>C (p.Asp757=)
|
rs753870064
|
0.00001
|
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg)
|
rs765284792
|
0.00001
|
NM_018834.6(MATR3):c.2372-3dup
|
rs1561945483
|
0.00001
|
NM_018834.6(MATR3):c.2460T>C (p.His820=)
|
rs1271177846
|
0.00001
|
NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr)
|
rs912142064
|
0.00001
|
NM_018834.6(MATR3):c.2538A>G (p.Glu846=)
|
rs747688305
|
0.00001
|
NM_018834.6(MATR3):c.256A>G (p.Ile86Val)
|
rs201277902
|
0.00001
|
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys)
|
rs1327023414
|
0.00001
|
NM_018834.6(MATR3):c.305G>A (p.Arg102His)
|
rs886059988
|
0.00001
|
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser)
|
rs745440760
|
0.00001
|
NM_018834.6(MATR3):c.325A>G (p.Ser109Gly)
|
rs1255035245
|
0.00001
|
NM_018834.6(MATR3):c.329A>C (p.Asn110Thr)
|
rs1433371817
|
0.00001
|
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys)
|
rs587777300
|
0.00001
|
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu)
|
rs761842979
|
0.00001
|
NM_018834.6(MATR3):c.507A>G (p.Pro169=)
|
rs1336473659
|
0.00001
|
NM_018834.6(MATR3):c.597G>A (p.Val199=)
|
rs1754794221
|
0.00001
|
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe)
|
rs200871699
|
0.00001
|
NM_018834.6(MATR3):c.769C>G (p.Pro257Ala)
|
rs774478774
|
0.00001
|
NM_018834.6(MATR3):c.827G>A (p.Ser276Asn)
|
rs762374587
|
0.00001
|
NM_018834.6(MATR3):c.898G>A (p.Val300Ile)
|
rs1307308858
|
0.00001
|
NM_018834.6(MATR3):c.960G>T (p.Gln320His)
|
rs773617455
|
0.00001
|
NM_018834.6(MATR3):c.974+7G>A
|
rs1443299870
|
0.00001
|
NM_020631.5(PLEKHG5):c.*1016A>G
|
rs886046488
|
0.00001
|
NM_020631.5(PLEKHG5):c.*1374C>T
|
rs1004946332
|
0.00001
|
NM_020631.5(PLEKHG5):c.*775T>G
|
rs886046492
|
0.00001
|
NM_020631.6(PLEKHG5):c.*192G>A
|
rs886046495
|
0.00001
|
NM_020631.6(PLEKHG5):c.*236G>A
|
rs1308834107
|
0.00001
|
NM_020631.6(PLEKHG5):c.-66C>T
|
rs755086442
|
0.00001
|
NM_020631.6(PLEKHG5):c.1020G>A (p.Ala340=)
|
rs562623276
|
0.00001
|
NM_020631.6(PLEKHG5):c.1041G>A (p.Thr347=)
|
rs779051638
|
0.00001
|
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val)
|
rs200802048
|
0.00001
|
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln)
|
rs61743372
|
0.00001
|
NM_020631.6(PLEKHG5):c.1068G>A (p.Arg356=)
|
rs1272202008
|
0.00001
|
NM_020631.6(PLEKHG5):c.1081-19C>T
|
rs1057524719
|
0.00001
|
NM_020631.6(PLEKHG5):c.1081-3C>T
|
rs772519809
|
0.00001
|
NM_020631.6(PLEKHG5):c.1082T>G (p.Leu361Arg)
|
rs762368406
|
0.00001
|
NM_020631.6(PLEKHG5):c.10G>A (p.Asp4Asn)
|
rs372434052
|
0.00001
|
NM_020631.6(PLEKHG5):c.1131+5G>T
|
rs1293986972
|
0.00001
|
NM_020631.6(PLEKHG5):c.1132-17C>T
|
rs1424401681
|
0.00001
|
NM_020631.6(PLEKHG5):c.1132-8G>T
|
rs1357497658
|
0.00001
|
NM_020631.6(PLEKHG5):c.1139C>T (p.Ala380Val)
|
rs374286001
|
0.00001
|
NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly)
|
rs1327802744
|
0.00001
|
NM_020631.6(PLEKHG5):c.1152C>T (p.Phe384=)
|
rs775687640
|
0.00001
|
NM_020631.6(PLEKHG5):c.1183C>G (p.Arg395Gly)
|
rs1644589733
|
0.00001
|
NM_020631.6(PLEKHG5):c.1200C>G (p.Ser400Arg)
|
rs755513110
|
0.00001
|
NM_020631.6(PLEKHG5):c.1227G>C (p.Ala409=)
|
rs1004728643
|
0.00001
|
NM_020631.6(PLEKHG5):c.1230G>T (p.Arg410=)
|
rs775775743
|
0.00001
|
NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys)
|
rs1271841187
|
0.00001
|
NM_020631.6(PLEKHG5):c.1243C>T (p.Leu415=)
|
rs771030645
|
0.00001
|
NM_020631.6(PLEKHG5):c.1264C>T (p.Leu422Phe)
|
rs779799130
|
0.00001
|
NM_020631.6(PLEKHG5):c.1267A>G (p.Lys423Glu)
|
rs1297083613
|
0.00001
|
NM_020631.6(PLEKHG5):c.1270G>A (p.Gly424Ser)
|
rs1366436495
|
0.00001
|
NM_020631.6(PLEKHG5):c.1286G>C (p.Gly429Ala)
|
rs1304686030
|
0.00001
|
NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter)
|
rs1443592761
|
0.00001
|
NM_020631.6(PLEKHG5):c.1295T>C (p.Phe432Ser)
|
rs1384133118
|
0.00001
|
NM_020631.6(PLEKHG5):c.12T>C (p.Asp4=)
|
rs772435791
|
0.00001
|
NM_020631.6(PLEKHG5):c.1360C>T (p.Arg454Cys)
|
rs200086651
|
0.00001
|
NM_020631.6(PLEKHG5):c.1371C>T (p.Asp457=)
|
rs776561735
|
0.00001
|
NM_020631.6(PLEKHG5):c.1391C>T (p.Thr464Met)
|
rs777612808
|
0.00001
|
NM_020631.6(PLEKHG5):c.1392G>A (p.Thr464=)
|
rs1412619450
|
0.00001
|
NM_020631.6(PLEKHG5):c.140A>C (p.Asp47Ala)
|
rs1180280762
|
0.00001
|
NM_020631.6(PLEKHG5):c.1410A>G (p.Pro470=)
|
rs200406088
|
0.00001
|
NM_020631.6(PLEKHG5):c.1414T>G (p.Cys472Gly)
|
rs1382976948
|
0.00001
|
NM_020631.6(PLEKHG5):c.1428G>A (p.Lys476=)
|
rs1243221708
|
0.00001
|
NM_020631.6(PLEKHG5):c.1443G>A (p.Leu481=)
|
rs1175716993
|
0.00001
|
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg)
|
rs1242593815
|
0.00001
|
NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs)
|
rs1266507622
|
0.00001
|
NM_020631.6(PLEKHG5):c.148G>C (p.Gly50Arg)
|
rs779791612
|
0.00001
|
NM_020631.6(PLEKHG5):c.1496T>G (p.Leu499Arg)
|
rs768323924
|
0.00001
|
NM_020631.6(PLEKHG5):c.150-11C>A
|
rs369136414
|
0.00001
|
NM_020631.6(PLEKHG5):c.150-13C>T
|
rs373087396
|
0.00001
|
NM_020631.6(PLEKHG5):c.1506C>T (p.Thr502=)
|
rs570632527
|
0.00001
|
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu)
|
rs770934745
|
0.00001
|
NM_020631.6(PLEKHG5):c.1524G>A (p.Lys508=)
|
rs777894074
|
0.00001
|
NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp)
|
rs548243654
|
0.00001
|
NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met)
|
rs377602965
|
0.00001
|
NM_020631.6(PLEKHG5):c.1558C>T (p.Arg520Cys)
|
rs999436825
|
0.00001
|
NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln)
|
rs1022969911
|
0.00001
|
NM_020631.6(PLEKHG5):c.1575G>C (p.Val525=)
|
rs1488054852
|
0.00001
|
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp)
|
rs774755047
|
0.00001
|
NM_020631.6(PLEKHG5):c.1596G>A (p.Arg532=)
|
rs777519794
|
0.00001
|
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln)
|
rs752167528
|
0.00001
|
NM_020631.6(PLEKHG5):c.1610G>A (p.Arg537Gln)
|
rs1322468026
|
0.00001
|
NM_020631.6(PLEKHG5):c.1647G>A (p.Glu549=)
|
rs770781624
|
0.00001
|
NM_020631.6(PLEKHG5):c.1681-3C>T
|
rs370601982
|
0.00001
|
NM_020631.6(PLEKHG5):c.168C>T (p.Gly56=)
|
rs1366828227
|
0.00001
|
NM_020631.6(PLEKHG5):c.1707C>T (p.Asp569=)
|
rs1033319065
|
0.00001
|
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys)
|
rs267598690
|
0.00001
|
NM_020631.6(PLEKHG5):c.1836G>A (p.Leu612=)
|
rs1026753861
|
0.00001
|
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys)
|
rs765998625
|
0.00001
|
NM_020631.6(PLEKHG5):c.1890C>T (p.Pro630=)
|
rs1280465351
|
0.00001
|
NM_020631.6(PLEKHG5):c.1929C>T (p.Asp643=)
|
rs1644505211
|
0.00001
|
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala)
|
rs781318885
|
0.00001
|
NM_020631.6(PLEKHG5):c.1933+17C>T
|
rs766391240
|
0.00001
|
NM_020631.6(PLEKHG5):c.1933+18C>T
|
rs369940156
|
0.00001
|
NM_020631.6(PLEKHG5):c.1933+4A>G
|
rs754759840
|
0.00001
|
NM_020631.6(PLEKHG5):c.1934-4C>G
|
rs951050550
|
0.00001
|
NM_020631.6(PLEKHG5):c.1934G>C (p.Gly645Ala)
|
rs749072819
|
0.00001
|
NM_020631.6(PLEKHG5):c.1935G>A (p.Gly645=)
|
rs147140763
|
0.00001
|
NM_020631.6(PLEKHG5):c.1951T>G (p.Tyr651Asp)
|
rs1644501019
|
0.00001
|
NM_020631.6(PLEKHG5):c.1980G>A (p.Gly660=)
|
rs751242417
|
0.00001
|
NM_020631.6(PLEKHG5):c.19G>A (p.Val7Ile)
|
rs779425195
|
0.00001
|
NM_020631.6(PLEKHG5):c.2042A>G (p.Asn681Ser)
|
rs936501984
|
0.00001
|
NM_020631.6(PLEKHG5):c.2049+10G>A
|
rs1478987550
|
0.00001
|
NM_020631.6(PLEKHG5):c.210+20C>T
|
rs777308688
|
0.00001
|
NM_020631.6(PLEKHG5):c.211-3C>T
|
rs754653668
|
0.00001
|
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu)
|
rs910994587
|
0.00001
|
NM_020631.6(PLEKHG5):c.2142A>G (p.Glu714=)
|
rs750902394
|
0.00001
|
NM_020631.6(PLEKHG5):c.2235C>T (p.Pro745=)
|
rs1323858843
|
0.00001
|
NM_020631.6(PLEKHG5):c.2249+4C>T
|
rs751575330
|
0.00001
|
NM_020631.6(PLEKHG5):c.2250-13C>T
|
rs547780813
|
0.00001
|
NM_020631.6(PLEKHG5):c.2250-5C>T
|
rs746215440
|
0.00001
|
NM_020631.6(PLEKHG5):c.2268G>A (p.Thr756=)
|
rs757831916
|
0.00001
|
NM_020631.6(PLEKHG5):c.22C>T (p.Arg8Cys)
|
rs754002297
|
0.00001
|
NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met)
|
rs1000775772
|
0.00001
|
NM_020631.6(PLEKHG5):c.2316C>T (p.Ser772=)
|
rs1342219532
|
0.00001
|
NM_020631.6(PLEKHG5):c.2325C>T (p.Phe775=)
|
rs1644465541
|
0.00001
|
NM_020631.6(PLEKHG5):c.2332G>A (p.Gly778Ser)
|
rs768087057
|
0.00001
|
NM_020631.6(PLEKHG5):c.23G>A (p.Arg8His)
|
rs779969203
|
0.00001
|
NM_020631.6(PLEKHG5):c.2411C>T (p.Pro804Leu)
|
rs1400722803
|
0.00001
|
NM_020631.6(PLEKHG5):c.2419C>T (p.Pro807Ser)
|
rs1175956588
|
0.00001
|
NM_020631.6(PLEKHG5):c.2420C>T (p.Pro807Leu)
|
rs371547045
|
0.00001
|
NM_020631.6(PLEKHG5):c.2435C>T (p.Ser812Phe)
|
rs145009237
|
0.00001
|
NM_020631.6(PLEKHG5):c.2438G>A (p.Cys813Tyr)
|
rs771230935
|
0.00001
|
NM_020631.6(PLEKHG5):c.2506A>G (p.Met836Val)
|
rs752621606
|
0.00001
|
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu)
|
rs768995193
|
0.00001
|
NM_020631.6(PLEKHG5):c.2565G>A (p.Ser855=)
|
rs372308060
|
0.00001
|
NM_020631.6(PLEKHG5):c.2578C>T (p.Arg860Cys)
|
rs557256913
|
0.00001
|
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe)
|
rs756639742
|
0.00001
|
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn)
|
rs769702301
|
0.00001
|
NM_020631.6(PLEKHG5):c.2683C>G (p.Pro895Ala)
|
rs753662166
|
0.00001
|
NM_020631.6(PLEKHG5):c.2698C>T (p.Arg900Cys)
|
rs750132016
|
0.00001
|
NM_020631.6(PLEKHG5):c.2713C>T (p.Leu905Phe)
|
rs774696513
|
0.00001
|
NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe)
|
rs993754184
|
0.00001
|
NM_020631.6(PLEKHG5):c.2728C>T (p.Pro910Ser)
|
rs1334075760
|
0.00001
|
NM_020631.6(PLEKHG5):c.2737G>C (p.Gly913Arg)
|
rs1407992685
|
0.00001
|
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu)
|
rs1436307319
|
0.00001
|
NM_020631.6(PLEKHG5):c.2772G>A (p.Gly924=)
|
rs1644444867
|
0.00001
|
NM_020631.6(PLEKHG5):c.2796C>T (p.Ala932=)
|
rs1315817273
|
0.00001
|
NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr)
|
rs1404826523
|
0.00001
|
NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg)
|
rs755699992
|
0.00001
|
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=)
|
rs749891873
|
0.00001
|
NM_020631.6(PLEKHG5):c.2837C>T (p.Ala946Val)
|
rs751158651
|
0.00001
|
NM_020631.6(PLEKHG5):c.2841G>A (p.Gly947=)
|
rs753283144
|
0.00001
|
NM_020631.6(PLEKHG5):c.2892C>G (p.Ala964=)
|
rs1388065890
|
0.00001
|
NM_020631.6(PLEKHG5):c.2916C>G (p.Pro972=)
|
rs923660925
|
0.00001
|
NM_020631.6(PLEKHG5):c.292A>G (p.Lys98Glu)
|
rs770771316
|
0.00001
|
NM_020631.6(PLEKHG5):c.2933C>T (p.Ala978Val)
|
rs150133974
|
0.00001
|
NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=)
|
rs886046497
|
0.00001
|
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter)
|
rs772171318
|
0.00001
|
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln)
|
rs762876171
|
0.00001
|
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val)
|
rs1360003341
|
0.00001
|
NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met)
|
rs781065380
|
0.00001
|
NM_020631.6(PLEKHG5):c.3011+3G>A
|
rs929173295
|
0.00001
|
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys)
|
rs768676402
|
0.00001
|
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser)
|
rs762546636
|
0.00001
|
NM_020631.6(PLEKHG5):c.422A>G (p.His141Arg)
|
rs371931309
|
0.00001
|
NM_020631.6(PLEKHG5):c.474G>A (p.Glu158=)
|
rs751440606
|
0.00001
|
NM_020631.6(PLEKHG5):c.47C>G (p.Ser16Cys)
|
rs201090415
|
0.00001
|
NM_020631.6(PLEKHG5):c.484A>G (p.Lys162Glu)
|
rs1644685170
|
0.00001
|
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=)
|
rs773624292
|
0.00001
|
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala)
|
rs531190324
|
0.00001
|
NM_020631.6(PLEKHG5):c.538C>T (p.Pro180Ser)
|
rs752485682
|
0.00001
|
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys)
|
rs760118221
|
0.00001
|
NM_020631.6(PLEKHG5):c.58C>T (p.Arg20Trp)
|
rs776026198
|
0.00001
|
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His)
|
rs939508255
|
0.00001
|
NM_020631.6(PLEKHG5):c.621G>A (p.Ser207=)
|
rs973366523
|
0.00001
|
NM_020631.6(PLEKHG5):c.631G>C (p.Gly211Arg)
|
rs1428031986
|
0.00001
|
NM_020631.6(PLEKHG5):c.63C>T (p.Asn21=)
|
rs138432284
|
0.00001
|
NM_020631.6(PLEKHG5):c.648C>T (p.Pro216=)
|
rs1030435109
|
0.00001
|
NM_020631.6(PLEKHG5):c.649G>A (p.Gly217Arg)
|
rs1253304988
|
0.00001
|
NM_020631.6(PLEKHG5):c.655G>A (p.Glu219Lys)
|
rs774845320
|
0.00001
|
NM_020631.6(PLEKHG5):c.663C>T (p.Pro221=)
|
rs577756377
|
0.00001
|
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala)
|
rs1348491680
|
0.00001
|
NM_020631.6(PLEKHG5):c.702C>T (p.Gly234=)
|
rs904191245
|
0.00001
|
NM_020631.6(PLEKHG5):c.705C>T (p.Ser235=)
|
rs573567464
|
0.00001
|
NM_020631.6(PLEKHG5):c.707C>T (p.Thr236Ile)
|
rs1180691543
|
0.00001
|
NM_020631.6(PLEKHG5):c.746G>A (p.Arg249His)
|
rs1172862216
|
0.00001
|
NM_020631.6(PLEKHG5):c.765C>T (p.Ser255=)
|
rs566596803
|
0.00001
|
NM_020631.6(PLEKHG5):c.777C>T (p.Ser259=)
|
rs373244537
|
0.00001
|
NM_020631.6(PLEKHG5):c.795+12C>T
|
rs754372537
|
0.00001
|
NM_020631.6(PLEKHG5):c.835A>G (p.Thr279Ala)
|
rs376817987
|
0.00001
|
NM_020631.6(PLEKHG5):c.850G>A (p.Gly284Arg)
|
rs569434019
|
0.00001
|
NM_020631.6(PLEKHG5):c.86C>T (p.Pro29Leu)
|
rs998963899
|
0.00001
|
NM_020631.6(PLEKHG5):c.877C>T (p.Arg293Cys)
|
rs374645103
|
0.00001
|
NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val)
|
rs1356599252
|
0.00001
|
NM_020631.6(PLEKHG5):c.913G>A (p.Glu305Lys)
|
rs750943470
|
0.00001
|
NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly)
|
rs145340974
|
0.00001
|
NM_020631.6(PLEKHG5):c.919G>A (p.Glu307Lys)
|
rs148745591
|
0.00001
|
NM_020631.6(PLEKHG5):c.931A>C (p.Asn311His)
|
rs146020517
|
0.00001
|
NM_020631.6(PLEKHG5):c.95G>C (p.Ser32Thr)
|
rs763262703
|
0.00001
|
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp)
|
rs761456870
|
0.00001
|
NM_020631.6(PLEKHG5):c.984+12C>T
|
rs1322343243
|
0.00001
|
NM_020631.6(PLEKHG5):c.984+9G>A
|
rs746193927
|
0.00001
|
NM_020631.6(PLEKHG5):c.985-6C>T
|
rs1371350296
|
0.00001
|
NM_020631.6(PLEKHG5):c.995G>A (p.Arg332Gln)
|
rs769390222
|
0.00001
|
NM_020919.4(ALS2):c.*1093C>T
|
rs983208576
|
0.00001
|
NM_020919.4(ALS2):c.*1249G>A
|
rs886055451
|
0.00001
|
NM_020919.4(ALS2):c.*1259A>G
|
rs888553434
|
0.00001
|
NM_020919.4(ALS2):c.*1398C>A
|
rs759248084
|
0.00001
|
NM_020919.4(ALS2):c.*1501A>G
|
rs1689312301
|
0.00001
|
NM_020919.4(ALS2):c.*1533C>T
|
rs763133240
|
0.00001
|
NM_020919.4(ALS2):c.*302A>G
|
rs1054683729
|
0.00001
|
NM_020919.4(ALS2):c.-31T>A
|
rs886055456
|
0.00001
|
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr)
|
rs41308816
|
0.00001
|
NM_020919.4(ALS2):c.1325G>T (p.Gly442Val)
|
rs780750146
|
0.00001
|
NM_020919.4(ALS2):c.1402G>A (p.Val468Met)
|
rs1412043555
|
0.00001
|
NM_020919.4(ALS2):c.1545A>C (p.Gly515=)
|
rs377402588
|
0.00001
|
NM_020919.4(ALS2):c.1640+10A>G
|
rs755148474
|
0.00001
|
NM_020919.4(ALS2):c.1805G>A (p.Arg602His)
|
rs201496655
|
0.00001
|
NM_020919.4(ALS2):c.20+9A>G
|
rs763370210
|
0.00001
|
NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter)
|
rs759408917
|
0.00001
|
NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr)
|
rs1184685995
|
0.00001
|
NM_020919.4(ALS2):c.2450A>G (p.Gln817Arg)
|
rs751084476
|
0.00001
|
NM_020919.4(ALS2):c.2472C>T (p.Asp824=)
|
rs761267157
|
0.00001
|
NM_020919.4(ALS2):c.2802T>C (p.Asn934=)
|
rs1265678329
|
0.00001
|
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)
|
rs375742430
|
0.00001
|
NM_020919.4(ALS2):c.2912+8C>T
|
rs528131651
|
0.00001
|
NM_020919.4(ALS2):c.2961A>G (p.Ser987=)
|
rs780301796
|
0.00001
|
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter)
|
rs1064797281
|
0.00001
|
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=)
|
rs557709223
|
0.00001
|
NM_020919.4(ALS2):c.3930C>A (p.Gly1310=)
|
rs780354290
|
0.00001
|
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)
|
rs761291489
|
0.00001
|
NM_020919.4(ALS2):c.4626+1G>A
|
rs1234882220
|
0.00001
|
NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu)
|
rs1689580631
|
0.00001
|
NM_021625.5(TRPV4):c.*212G>A
|
rs886048938
|
0.00001
|
NM_021625.5(TRPV4):c.*51G>A
|
rs886048939
|
0.00001
|
NM_021625.5(TRPV4):c.-59C>T
|
rs1299040866
|
0.00001
|
NM_021625.5(TRPV4):c.-74G>A
|
rs886048942
|
0.00001
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=)
|
rs189872222
|
0.00001
|
NM_021625.5(TRPV4):c.1601T>C (p.Met534Thr)
|
rs775011025
|
0.00001
|
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn)
|
rs757630049
|
0.00001
|
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)
|
rs763889344
|
0.00001
|
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)
|
rs770149544
|
0.00001
|
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg)
|
rs1423138633
|
0.00001
|
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly)
|
rs375189134
|
0.00001
|
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)
|
rs375851168
|
0.00001
|
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086
|
0.00001
|
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu)
|
rs764622721
|
0.00001
|
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn)
|
rs368963822
|
0.00001
|
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
|
rs1193945019
|
0.00001
|
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)
|
rs756559560
|
0.00001
|
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn)
|
rs769445973
|
0.00001
|
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)
|
rs548909101
|
0.00001
|
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu)
|
rs373980330
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
|
rs387907219
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_021815.5(SLC5A7):c.1026T>C (p.Ala342=)
|
rs745405514
|
0.00001
|
NM_021815.5(SLC5A7):c.1033A>T (p.Met345Leu)
|
rs769383404
|
0.00001
|
NM_021815.5(SLC5A7):c.103G>A (p.Ala35Thr)
|
rs1225811300
|
0.00001
|
NM_021815.5(SLC5A7):c.110A>G (p.Glu37Gly)
|
rs771965968
|
0.00001
|
NM_021815.5(SLC5A7):c.1118C>T (p.Ser373Leu)
|
rs776949424
|
0.00001
|
NM_021815.5(SLC5A7):c.1122C>A (p.Asp374Glu)
|
rs765428136
|
0.00001
|
NM_021815.5(SLC5A7):c.1181C>G (p.Ala394Gly)
|
rs750242187
|
0.00001
|
NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys)
|
rs760447400
|
0.00001
|
NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala)
|
rs770628227
|
0.00001
|
NM_021815.5(SLC5A7):c.1242C>T (p.Tyr414=)
|
rs771422735
|
0.00001
|
NM_021815.5(SLC5A7):c.1254C>A (p.Phe418Leu)
|
rs770003632
|
0.00001
|
NM_021815.5(SLC5A7):c.12T>G (p.His4Gln)
|
rs1677318394
|
0.00001
|
NM_021815.5(SLC5A7):c.1302G>C (p.Gly434=)
|
rs767552380
|
0.00001
|
NM_021815.5(SLC5A7):c.1305C>T (p.Ala435=)
|
rs750258339
|
0.00001
|
NM_021815.5(SLC5A7):c.1360C>T (p.Leu454=)
|
rs868433113
|
0.00001
|
NM_021815.5(SLC5A7):c.1362G>A (p.Leu454=)
|
rs561099749
|
0.00001
|
NM_021815.5(SLC5A7):c.138C>T (p.Gly46=)
|
rs776077643
|
0.00001
|
NM_021815.5(SLC5A7):c.13G>A (p.Val5Met)
|
rs759997671
|
0.00001
|
NM_021815.5(SLC5A7):c.1414A>G (p.Ile472Val)
|
rs1248009607
|
0.00001
|
NM_021815.5(SLC5A7):c.1444C>T (p.Leu482Phe)
|
rs370223910
|
0.00001
|
NM_021815.5(SLC5A7):c.1478G>T (p.Cys493Phe)
|
rs532174786
|
0.00001
|
NM_021815.5(SLC5A7):c.1484C>G (p.Ser495Cys)
|
rs1446927168
|
0.00001
|
NM_021815.5(SLC5A7):c.1517C>T (p.Thr506Ile)
|
rs140863834
|
0.00001
|
NM_021815.5(SLC5A7):c.1602T>C (p.Asn534=)
|
rs772245675
|
0.00001
|
NM_021815.5(SLC5A7):c.1613A>G (p.Lys538Arg)
|
rs1288760672
|
0.00001
|
NM_021815.5(SLC5A7):c.1628C>A (p.Ala543Glu)
|
rs751068657
|
0.00001
|
NM_021815.5(SLC5A7):c.1642C>T (p.Arg548Ter)
|
rs199636877
|
0.00001
|
NM_021815.5(SLC5A7):c.1672dup (p.Thr558fs)
|
rs748711877
|
0.00001
|
NM_021815.5(SLC5A7):c.1716G>T (p.Gly572=)
|
rs1025757053
|
0.00001
|
NM_021815.5(SLC5A7):c.1718C>T (p.Ser573Phe)
|
rs374245840
|
0.00001
|
NM_021815.5(SLC5A7):c.1722G>T (p.Gly574=)
|
rs762662680
|
0.00001
|
NM_021815.5(SLC5A7):c.1727A>T (p.Glu576Val)
|
rs751087167
|
0.00001
|
NM_021815.5(SLC5A7):c.192A>T (p.Gly64=)
|
rs773790295
|
0.00001
|
NM_021815.5(SLC5A7):c.207T>C (p.Asn69=)
|
rs1677475501
|
0.00001
|
NM_021815.5(SLC5A7):c.238T>C (p.Tyr80His)
|
rs748862220
|
0.00001
|
NM_021815.5(SLC5A7):c.277C>T (p.Leu93Phe)
|
rs1172822464
|
0.00001
|
NM_021815.5(SLC5A7):c.292+11G>A
|
rs777715689
|
0.00001
|
NM_021815.5(SLC5A7):c.319C>T (p.Arg107Cys)
|
rs1265189648
|
0.00001
|
NM_021815.5(SLC5A7):c.31A>G (p.Ile11Val)
|
rs911790588
|
0.00001
|
NM_021815.5(SLC5A7):c.321T>C (p.Arg107=)
|
rs759885480
|
0.00001
|
NM_021815.5(SLC5A7):c.34A>G (p.Ile12Val)
|
rs764663527
|
0.00001
|
NM_021815.5(SLC5A7):c.35T>C (p.Ile12Thr)
|
rs1057353436
|
0.00001
|
NM_021815.5(SLC5A7):c.373C>T (p.Arg125Cys)
|
rs757211775
|
0.00001
|
NM_021815.5(SLC5A7):c.382G>A (p.Gly128Arg)
|
rs1222306029
|
0.00001
|
NM_021815.5(SLC5A7):c.385C>T (p.Leu129Phe)
|
rs748901270
|
0.00001
|
NM_021815.5(SLC5A7):c.393T>C (p.Phe131=)
|
rs1425880594
|
0.00001
|
NM_021815.5(SLC5A7):c.449-14C>T
|
rs1168011809
|
0.00001
|
NM_021815.5(SLC5A7):c.504T>C (p.Ser168=)
|
rs752342608
|
0.00001
|
NM_021815.5(SLC5A7):c.534G>A (p.Val178=)
|
rs1573601177
|
0.00001
|
NM_021815.5(SLC5A7):c.625C>A (p.His209Asn)
|
rs763744412
|
0.00001
|
NM_021815.5(SLC5A7):c.645C>A (p.Ile215=)
|
rs1392135172
|
0.00001
|
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val)
|
rs1351029450
|
0.00001
|
NM_021815.5(SLC5A7):c.679C>G (p.Pro227Ala)
|
rs1035258430
|
0.00001
|
NM_021815.5(SLC5A7):c.698A>G (p.Asp233Gly)
|
rs1677927626
|
0.00001
|
NM_021815.5(SLC5A7):c.704C>G (p.Ser235Cys)
|
rs755576066
|
0.00001
|
NM_021815.5(SLC5A7):c.711C>G (p.Val237=)
|
rs1305450818
|
0.00001
|
NM_021815.5(SLC5A7):c.716C>T (p.Ser239Phe)
|
rs778161682
|
0.00001
|
NM_021815.5(SLC5A7):c.729T>C (p.Ser243=)
|
rs972194774
|
0.00001
|
NM_021815.5(SLC5A7):c.741+11C>G
|
rs781484974
|
0.00001
|
NM_021815.5(SLC5A7):c.741+12T>C
|
rs745918946
|
0.00001
|
NM_021815.5(SLC5A7):c.742-19C>A
|
rs758950508
|
0.00001
|
NM_021815.5(SLC5A7):c.742-7C>T
|
rs367795192
|
0.00001
|
NM_021815.5(SLC5A7):c.765A>G (p.Gln255=)
|
rs1354576821
|
0.00001
|
NM_021815.5(SLC5A7):c.792T>A (p.Ser264=)
|
rs199981715
|
0.00001
|
NM_021815.5(SLC5A7):c.837C>T (p.Phe279=)
|
rs369809428
|
0.00001
|
NM_021815.5(SLC5A7):c.84A>G (p.Arg28=)
|
rs202046349
|
0.00001
|
NM_021815.5(SLC5A7):c.864C>G (p.Ala288=)
|
rs1380320655
|
0.00001
|
NM_021815.5(SLC5A7):c.897C>G (p.Asp299Glu)
|
rs1370287710
|
0.00001
|
NM_021815.5(SLC5A7):c.978T>C (p.Tyr326=)
|
rs542281272
|
0.00001
|
NM_025137.4(SPG11):c.114G>A (p.Met38Ile)
|
rs886051185
|
0.00001
|
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr)
|
rs1331463203
|
0.00001
|
NM_025137.4(SPG11):c.130C>T (p.Arg44Trp)
|
rs1304995096
|
0.00001
|
NM_025137.4(SPG11):c.150G>C (p.Gln50His)
|
rs745498485
|
0.00001
|
NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys)
|
rs758046989
|
0.00001
|
NM_025137.4(SPG11):c.1632A>G (p.Thr544=)
|
rs368683333
|
0.00001
|
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)
|
rs763060505
|
0.00001
|
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala)
|
rs566318835
|
0.00001
|
NM_025137.4(SPG11):c.2379G>A (p.Val793=)
|
rs202245950
|
0.00001
|
NM_025137.4(SPG11):c.250T>C (p.Phe84Leu)
|
rs749011406
|
0.00001
|
NM_025137.4(SPG11):c.2612dup (p.Ser871fs)
|
rs750101275
|
0.00001
|
NM_025137.4(SPG11):c.2620+6T>C
|
rs762381864
|
0.00001
|
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg)
|
rs2083706533
|
0.00001
|
NM_025137.4(SPG11):c.2966A>G (p.His989Arg)
|
rs752882400
|
0.00001
|
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser)
|
rs758322703
|
0.00001
|
NM_025137.4(SPG11):c.3292-6dup
|
rs777377848
|
0.00001
|
NM_025137.4(SPG11):c.3412A>G (p.Ser1138Gly)
|
rs377351819
|
0.00001
|
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr)
|
rs747910594
|
0.00001
|
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His)
|
rs373641013
|
0.00001
|
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=)
|
rs1388337783
|
0.00001
|
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)
|
rs1459810136
|
0.00001
|
NM_025137.4(SPG11):c.3778T>C (p.Leu1260=)
|
rs776154524
|
0.00001
|
NM_025137.4(SPG11):c.3893C>T (p.Ala1298Val)
|
rs768718170
|
0.00001
|
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser)
|
rs1085307814
|
0.00001
|
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys)
|
rs200700774
|
0.00001
|
NM_025137.4(SPG11):c.4216G>T (p.Ala1406Ser)
|
rs748925327
|
0.00001
|
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr)
|
rs767343843
|
0.00001
|
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met)
|
rs766297012
|
0.00001
|
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)
|
rs368276916
|
0.00001
|
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser)
|
rs376207036
|
0.00001
|
NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr)
|
rs779161014
|
0.00001
|
NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly)
|
rs1185441476
|
0.00001
|
NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys)
|
rs201254271
|
0.00001
|
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)
|
rs375403626
|
0.00001
|
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)
|
rs570599267
|
0.00001
|
NM_025137.4(SPG11):c.5688A>C (p.Arg1896Ser)
|
rs2082706047
|
0.00001
|
NM_025137.4(SPG11):c.5741G>T (p.Cys1914Phe)
|
rs752725391
|
0.00001
|
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)
|
rs573482671
|
0.00001
|
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)
|
rs200793464
|
0.00001
|
NM_025137.4(SPG11):c.5975G>A (p.Arg1992Gln)
|
rs141262934
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr)
|
rs1179229360
|
0.00001
|
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln)
|
rs1365555358
|
0.00001
|
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp)
|
rs755438310
|
0.00001
|
NM_025137.4(SPG11):c.6180G>C (p.Glu2060Asp)
|
rs753980126
|
0.00001
|
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile)
|
rs543344637
|
0.00001
|
NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=)
|
rs146240471
|
0.00001
|
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu)
|
rs752165478
|
0.00001
|
NM_025137.4(SPG11):c.6697G>A (p.Glu2233Lys)
|
rs373587870
|
0.00001
|
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)
|
rs376245210
|
0.00001
|
NM_025137.4(SPG11):c.6881T>C (p.Leu2294Pro)
|
rs1275110844
|
0.00001
|
NM_025137.4(SPG11):c.6908A>T (p.His2303Leu)
|
rs1350164343
|
0.00001
|
NM_025137.4(SPG11):c.695A>G (p.Tyr232Cys)
|
rs375915115
|
0.00001
|
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)
|
rs779900397
|
0.00001
|
NM_025137.4(SPG11):c.7326del (p.Gly2443fs)
|
rs751228307
|
0.00001
|
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser)
|
rs777798718
|
0.00001
|
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg)
|
rs797046051
|
0.00001
|
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)
|
rs376815626
|
0.00001
|
NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser)
|
rs778603443
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)
|
rs879253780
|
0.00001
|
NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)
|
rs1247392012
|
0.00001
|
NM_145868.2(ANXA11):c.1481G>A (p.Arg494Gln)
|
rs1318489141
|
0.00001
|
NM_145868.2(ANXA11):c.744+3G>A
|
rs769390362
|
0.00001
|
NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly)
|
rs373012279
|
0.00001
|
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)
|
rs769683272
|
0.00001
|
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)
|
rs371666412
|
0.00001
|
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)
|
rs766257867
|
0.00001
|
NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)
|
rs771847002
|
0.00001
|
NM_205836.3(FBXO38):c.1012T>G (p.Ser338Ala)
|
rs1051684244
|
0.00001
|
NM_205836.3(FBXO38):c.1022A>G (p.Lys341Arg)
|
rs889149643
|
0.00001
|
NM_205836.3(FBXO38):c.1155T>C (p.Gly385=)
|
rs1581256078
|
0.00001
|
NM_205836.3(FBXO38):c.1170A>G (p.Ile390Met)
|
rs751242312
|
0.00001
|
NM_205836.3(FBXO38):c.1191A>G (p.Glu397=)
|
rs764041718
|
0.00001
|
NM_205836.3(FBXO38):c.1265-7T>C
|
rs888571837
|
0.00001
|
NM_205836.3(FBXO38):c.1305A>T (p.Val435=)
|
rs142263196
|
0.00001
|
NM_205836.3(FBXO38):c.1308G>A (p.Arg436=)
|
rs750331046
|
0.00001
|
NM_205836.3(FBXO38):c.1327G>C (p.Asp443His)
|
rs1318477469
|
0.00001
|
NM_205836.3(FBXO38):c.1378C>T (p.Leu460=)
|
rs199662567
|
0.00001
|
NM_205836.3(FBXO38):c.1467T>C (p.Val489=)
|
rs759754735
|
0.00001
|
NM_205836.3(FBXO38):c.1531A>G (p.Asn511Asp)
|
rs746674990
|
0.00001
|
NM_205836.3(FBXO38):c.1563G>A (p.Glu521=)
|
rs759678292
|
0.00001
|
NM_205836.3(FBXO38):c.1567A>C (p.Asn523His)
|
rs1468271814
|
0.00001
|
NM_205836.3(FBXO38):c.157A>G (p.Met53Val)
|
rs1361110357
|
0.00001
|
NM_205836.3(FBXO38):c.1591C>G (p.Pro531Ala)
|
rs928826029
|
0.00001
|
NM_205836.3(FBXO38):c.1618+8A>G
|
rs958930668
|
0.00001
|
NM_205836.3(FBXO38):c.1698C>A (p.Ser566Arg)
|
rs375251121
|
0.00001
|
NM_205836.3(FBXO38):c.1705A>G (p.Ile569Val)
|
rs772345898
|
0.00001
|
NM_205836.3(FBXO38):c.1729G>C (p.Glu577Gln)
|
rs759341101
|
0.00001
|
NM_205836.3(FBXO38):c.1743C>A (p.Pro581=)
|
rs1408503689
|
0.00001
|
NM_205836.3(FBXO38):c.1757G>A (p.Arg586His)
|
rs369833842
|
0.00001
|
NM_205836.3(FBXO38):c.1852G>A (p.Gly618Ser)
|
rs750086990
|
0.00001
|
NM_205836.3(FBXO38):c.1859G>A (p.Arg620Gln)
|
rs766830490
|
0.00001
|
NM_205836.3(FBXO38):c.1880A>G (p.Glu627Gly)
|
rs1376821948
|
0.00001
|
NM_205836.3(FBXO38):c.1919-19C>T
|
rs746868253
|
0.00001
|
NM_205836.3(FBXO38):c.192G>A (p.Val64=)
|
rs763779865
|
0.00001
|
NM_205836.3(FBXO38):c.1996G>A (p.Glu666Lys)
|
rs770649145
|
0.00001
|
NM_205836.3(FBXO38):c.2053A>G (p.Met685Val)
|
rs775906161
|
0.00001
|
NM_205836.3(FBXO38):c.2062G>A (p.Ala688Thr)
|
rs913559304
|
0.00001
|
NM_205836.3(FBXO38):c.206G>A (p.Arg69Gln)
|
rs761704413
|
0.00001
|
NM_205836.3(FBXO38):c.2156A>G (p.Asn719Ser)
|
rs1027079492
|
0.00001
|
NM_205836.3(FBXO38):c.2189C>T (p.Thr730Met)
|
rs767223993
|
0.00001
|
NM_205836.3(FBXO38):c.2203G>A (p.Gly735Ser)
|
rs779561720
|
0.00001
|
NM_205836.3(FBXO38):c.2283G>A (p.Glu761=)
|
rs779798577
|
0.00001
|
NM_205836.3(FBXO38):c.2295G>T (p.Glu765Asp)
|
rs966952897
|
0.00001
|
NM_205836.3(FBXO38):c.2309G>A (p.Ser770Asn)
|
rs1485057991
|
0.00001
|
NM_205836.3(FBXO38):c.2343C>T (p.Pro781=)
|
rs764011030
|
0.00001
|
NM_205836.3(FBXO38):c.239G>A (p.Arg80Gln)
|
rs751167811
|
0.00001
|
NM_205836.3(FBXO38):c.2402G>A (p.Arg801Gln)
|
rs751618541
|
0.00001
|
NM_205836.3(FBXO38):c.2423C>T (p.Pro808Leu)
|
rs757209133
|
0.00001
|
NM_205836.3(FBXO38):c.2433G>A (p.Thr811=)
|
rs368967979
|
0.00001
|
NM_205836.3(FBXO38):c.2695C>T (p.Arg899Trp)
|
rs755084155
|
0.00001
|
NM_205836.3(FBXO38):c.2711C>A (p.Ser904Tyr)
|
rs1014349605
|
0.00001
|
NM_205836.3(FBXO38):c.2715T>C (p.Thr905=)
|
rs748376542
|
0.00001
|
NM_205836.3(FBXO38):c.2755-8G>A
|
rs1468803464
|
0.00001
|
NM_205836.3(FBXO38):c.2801A>G (p.Asn934Ser)
|
rs1463668452
|
0.00001
|
NM_205836.3(FBXO38):c.2837C>G (p.Pro946Arg)
|
rs144849921
|
0.00001
|
NM_205836.3(FBXO38):c.286A>G (p.Thr96Ala)
|
rs1185057010
|
0.00001
|
NM_205836.3(FBXO38):c.2898T>G (p.Asn966Lys)
|
rs148580014
|
0.00001
|
NM_205836.3(FBXO38):c.291A>G (p.Leu97=)
|
rs1339219934
|
0.00001
|
NM_205836.3(FBXO38):c.2973A>G (p.Leu991=)
|
rs759970509
|
0.00001
|
NM_205836.3(FBXO38):c.2995C>T (p.Arg999Cys)
|
rs760782381
|
0.00001
|
NM_205836.3(FBXO38):c.3024+5C>T
|
rs781235057
|
0.00001
|
NM_205836.3(FBXO38):c.3025-11G>A
|
rs372858978
|
0.00001
|
NM_205836.3(FBXO38):c.3025-16A>G
|
rs371855987
|
0.00001
|
NM_205836.3(FBXO38):c.3163A>G (p.Ile1055Val)
|
rs1399229383
|
0.00001
|
NM_205836.3(FBXO38):c.3236C>A (p.Pro1079His)
|
rs757930681
|
0.00001
|
NM_205836.3(FBXO38):c.3274+14A>G
|
rs748557217
|
0.00001
|
NM_205836.3(FBXO38):c.3275-14del
|
rs766338496
|
0.00001
|
NM_205836.3(FBXO38):c.3277G>A (p.Val1093Ile)
|
rs779324806
|
0.00001
|
NM_205836.3(FBXO38):c.3378C>T (p.Asp1126=)
|
rs759126729
|
0.00001
|
NM_205836.3(FBXO38):c.338G>A (p.Arg113Gln)
|
rs1201701262
|
0.00001
|
NM_205836.3(FBXO38):c.3390C>A (p.Ser1130Arg)
|
rs1203605915
|
0.00001
|
NM_205836.3(FBXO38):c.3391A>C (p.Thr1131Pro)
|
rs1561551063
|
0.00001
|
NM_205836.3(FBXO38):c.340T>C (p.Tyr114His)
|
rs144375164
|
0.00001
|
NM_205836.3(FBXO38):c.3428C>T (p.Ala1143Val)
|
rs1554083508
|
0.00001
|
NM_205836.3(FBXO38):c.3456G>A (p.Glu1152=)
|
rs1314390167
|
0.00001
|
NM_205836.3(FBXO38):c.3471G>A (p.Met1157Ile)
|
rs764469305
|
0.00001
|
NM_205836.3(FBXO38):c.3482A>C (p.Lys1161Thr)
|
rs997254848
|
0.00001
|
NM_205836.3(FBXO38):c.3506T>C (p.Val1169Ala)
|
rs1754718621
|
0.00001
|
NM_205836.3(FBXO38):c.409G>A (p.Ala137Thr)
|
rs749305250
|
0.00001
|
NM_205836.3(FBXO38):c.438T>C (p.Thr146=)
|
rs771410003
|
0.00001
|
NM_205836.3(FBXO38):c.45T>C (p.Asn15=)
|
rs1470905234
|
0.00001
|
NM_205836.3(FBXO38):c.465T>C (p.Ile155=)
|
rs1752206103
|
0.00001
|
NM_205836.3(FBXO38):c.529A>G (p.Ile177Val)
|
rs560664064
|
0.00001
|
NM_205836.3(FBXO38):c.652G>A (p.Val218Ile)
|
rs747805838
|
0.00001
|
NM_205836.3(FBXO38):c.694A>G (p.Ile232Val)
|
rs1453234833
|
0.00001
|
NM_205836.3(FBXO38):c.792G>A (p.Leu264=)
|
rs1422318649
|
0.00001
|
NM_205836.3(FBXO38):c.812G>A (p.Arg271Gln)
|
rs896205714
|
0.00001
|
NM_205836.3(FBXO38):c.869-8G>A
|
rs777036251
|
0.00001
|
NM_205836.3(FBXO38):c.869-9C>T
|
rs768616588
|
0.00001
|
NM_205836.3(FBXO38):c.86A>G (p.Tyr29Cys)
|
rs775196268
|
0.00001
|
NM_205836.3(FBXO38):c.871G>A (p.Gly291Ser)
|
rs1752601122
|
0.00001
|
NM_205836.3(FBXO38):c.915T>G (p.Asn305Lys)
|
rs767430187
|
0.00001
|
NM_205836.3(FBXO38):c.958C>T (p.Arg320Cys)
|
rs779869264
|
0.00001
|
NM_205836.3(FBXO38):c.959G>A (p.Arg320His)
|
rs756850214
|
0.00001
|
NM_205836.3(FBXO38):c.962+3A>G
|
rs779258103
|
0.00001
|
NM_205836.3(FBXO38):c.988T>A (p.Ser330Thr)
|
rs764932115
|
0.00001
|
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp)
|
rs542013784
|
0.00001
|
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs)
|
rs762142684
|
0.00001
|
NM_213720.3(CHCHD10):c.106C>T (p.Pro36Ser)
|
rs1259379217
|
0.00001
|
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg)
|
rs945463572
|
0.00001
|
NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly)
|
rs751472303
|
0.00001
|
NM_213720.3(CHCHD10):c.189C>T (p.His63=)
|
rs202148090
|
0.00001
|
NM_213720.3(CHCHD10):c.192C>T (p.Val64=)
|
rs1392838932
|
0.00001
|
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)
|
rs542541060
|
0.00001
|
NM_213720.3(CHCHD10):c.261+9C>A
|
rs746028073
|
0.00001
|
NM_213720.3(CHCHD10):c.306C>T (p.Cys102=)
|
rs527737360
|
0.00001
|
NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu)
|
rs780959799
|
0.00001
|
NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe)
|
rs1358742335
|
0.00001
|
NM_213720.3(CHCHD10):c.372C>T (p.Gly124=)
|
rs372902325
|
0.00001
|
NM_213720.3(CHCHD10):c.408T>C (p.His136=)
|
rs113677828
|
0.00001
|
NM_213720.3(CHCHD10):c.409+11G>A
|
rs745652443
|
0.00001
|
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val)
|
rs1197865297
|
0.00001
|
NM_213720.3(CHCHD10):c.42-8C>T
|
rs1191330602
|
0.00001
|
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser)
|
rs927168789
|
0.00001
|
NM_213720.3(CHCHD10):c.53C>T (p.Ala18Val)
|
rs1244878740
|
0.00001
|
NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser)
|
rs1297070374
|
0.00001
|
GRCh37/hg19 12q14.2(chr12:64868010-64895161)
|
|
|
GRCh37/hg19 5q13.2(chr5:70220768-70247953)x0
|
|
|
GRCh37/hg19 5q13.2(chr5:70247768-70247821)
|
|
|
GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1
|
|
|
NC_000001.10:g.(?_6527623)_(6537631_?)dup
|
|
|
NC_000001.11:g.(?_6467553)_(6477668_?)del
|
|
|
NC_000001.11:g.(?_6474003)_(6477668_?)del
|
|
|
NC_000002.11:g.(?_108604592)_(108627337_?)dup
|
|
|
NC_000002.11:g.(?_108604612)_(108604809_?)del
|
|
|
NC_000002.11:g.(?_108604612)_(108609603_?)del
|
|
|
NC_000002.11:g.(?_108604612)_(108627317_?)del
|
|
|
NC_000002.11:g.(?_108604612)_(108627317_?)dup
|
|
|
NC_000002.11:g.(?_220144556)_(220150719_?)dup
|
|
|
NC_000002.11:g.(?_220150706)_(220290732_?)dup
|
|
|
NC_000002.11:g.(?_74588271)_(74607174_?)del
|
|
|
NC_000002.11:g.(?_74588626)_(74607164_?)dup
|
|
|
NC_000002.11:g.(?_74597072)_(74607164_?)dup
|
|
|
NC_000002.12:g.(?_107988146)_(108010871_?)dup
|
|
|
NC_000002.12:g.(?_107988146)_(108963283_?)del
|
|
|
NC_000002.12:g.(?_107988146)_(108963283_?)dup
|
|
|
NC_000002.12:g.74371167CCT[3]
|
|
|
NC_000003.11:g.(?_87276673)_(87325612_?)del
|
|
|
NC_000005.10:g.(?_148394767)_(148406404_?)dup
|
|
|
NC_000005.10:g.(?_179836426)_(179836603_?)del
|
|
|
NC_000005.10:g.(?_54455780)_(54456252_?)del
|
|
|
NC_000005.10:g.(?_70924941)_(70966375_?)del
|
|
|
NC_000005.10:g.(?_70951912)_(70951994_?)del
|
|
|
NC_000005.10:g.(?_70951921)_(70952011_?)del
|
|
|
NC_000005.10:g.(?_70951931)_(70952001_?)del
|
|
|
NC_000005.10:g.(?_70951941)_(70951991_?)del
|
|
|
NC_000005.10:g.70946066_70946176del
|
rs1554082110
|
|
NC_000005.9:g.(?_138608441)_(138668366_?)del
|
|
|
NC_000005.9:g.(?_138643105)_(138644036_?)dup
|
|
|
NC_000005.9:g.(?_138643105)_(138665084_?)dup
|
|
|
NC_000005.9:g.(?_147762498)_(147823399_?)del
|
|
|
NC_000005.9:g.(?_178413111)_(179263593_?)dup
|
|
|
NC_000005.9:g.(?_178770758)_(179263603_?)dup
|
|
|
NC_000005.9:g.(?_179260012)_(179260802_?)del
|
|
|
NC_000005.9:g.(?_179260567)_(179263593_?)dup
|
|
|
NC_000005.9:g.(?_179263416)_(179263593_?)del
|
|
|
NC_000005.9:g.(?_53751620)_(53752072_?)dup
|
|
|
NC_000005.9:g.(?_70219768)_70249839dup
|
|
|
NC_000005.9:g.(?_70247739)_(70247821_?)dup
|
|
|
NC_000005.9:g.(?_70247758)_(70247828_?)dup
|
|
|
NC_000005.9:g.70247853_70247854ins[N[1090];70247841_70247853]
|
|
|
NC_000008.11:g.(?_18051554)_(18107050_?)del
|
|
|
NC_000009.11:g.(135164039_135171258)_(135176191_135187143)del
|
|
|
NC_000009.11:g.(?_135156834)_(135156981_?)del
|
|
|
NC_000009.11:g.(?_135201691)_(135210134_?)del
|
|
|
NC_000009.11:g.(?_135209975)_(135210134_?)dup
|
|
|
NC_000009.11:g.(?_32453279)_(35068379_?)dup
|
|
|
NC_000009.11:g.(?_32453279)_(37785041_?)dup
|
|
|
NC_000009.11:g.(?_34458984)_(36277059_?)dup
|
|
|
NC_000009.11:g.(?_34458994)_(35072710_?)dup
|
|
|
NC_000009.11:g.(?_94794747)_(95527026_?)del
|
|
|
NC_000009.11:g.(?_95477699)_(95479322_?)del
|
|
|
NC_000009.11:g.(?_95526777)_(95527036_?)del
|
|
|
NC_000009.12:g.(?_132264229)_(132349438_?)dup
|
|
|
NC_000009.12:g.27573529_27573534GGCCCC[24_30]
|
|
|
NC_000009.12:g.27573529_27573534GGCCCC[60_?]
|
|
|
NC_000009.12:g.34637993_34637994delinsAA
|
rs371780375
|
|
NC_000010.10:g.(?_12833157)_(13178866_?)del
|
|
|
NC_000010.10:g.(?_13151123)_(13154655_?)dup
|
|
|
NC_000010.10:g.(?_13151123)_(13158360_?)del
|
|
|
NC_000010.10:g.(?_13151123)_(13178866_?)del
|
|
|
NC_000010.10:g.(?_13152254)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13152353)_(13162081_?)del
|
|
|
NC_000010.10:g.(?_13154433)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13158247)_(13158360_?)del
|
|
|
NC_000010.10:g.(?_13158247)_(13169923_?)dup
|
|
|
NC_000010.10:g.(?_13160868)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13160868)_(13161060_?)dup
|
|
|
NC_000010.10:g.(?_13164365)_(13168059_?)del
|
|
|
NC_000010.11:g.(?_13109103)_(13136886_?)del
|
|
|
NC_000010.11:g.(?_13109113)_(13112645_?)del
|
|
|
NC_000010.11:g.(?_13109123)_(13183100_?)del
|
|
|
NC_000010.11:g.(?_13116257)_(13116350_?)del
|
|
|
NC_000010.11:g.(?_13118878)_(13119050_?)del
|
|
|
NC_000010.11:g.13122383AG[1]
|
rs757559365
|
|
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del
|
|
|
NC_000011.10:g.(?_68908125)_(68908651_?)del
|
|
|
NC_000011.9:g.(?_68671411)_(68707209_?)del
|
|
|
NC_000011.9:g.(?_68671421)_(68679091_?)del
|
|
|
NC_000011.9:g.(?_68673517)_(68682511_?)del
|
|
|
NC_000011.9:g.(?_68682271)_(68682511_?)del
|
|
|
NC_000011.9:g.(?_68682281)_(68682501_?)del
|
|
|
NC_000012.11:g.(?_64849651)_(64854129_?)del
|
|
|
NC_000012.11:g.(?_64875602)_(64879817_?)del
|
|
|
NC_000014.8:g.(?_97299809)_(97327092_?)del
|
|
|
NC_000014.8:g.(?_97319158)_(97322933_?)del
|
|
|
NC_000014.8:g.(?_97326874)_(97327092_?)del
|
|
|
NC_000014.9:g.(?_96810669)_(96860745_?)del
|
|
|
NC_000014.9:g.(?_96846075)_(96847364_?)del
|
|
|
NC_000014.9:g.(?_96846085)_(96847354_?)del
|
|
|
NC_000014.9:g.(?_96856120)_(96860745_?)del
|
|
|
NC_000016.10:g.(?_31182388)_(31194881_?)dup
|
|
|
NC_000016.10:g.31184376GAGGTG[6]
|
|
|
NC_000020.10:g.(?_57009638)_(57019291_?)dup
|
|
|
NC_000020.11:g.(?_58389109)_(58389527_?)del
|
|
|
NC_000021.8:g.(?_32439271)_(39212984_?)dup
|
|
|
NC_000022.10:g.(?_24108011)_(24110169_?)dup
|
|
|
NC_000022.10:g.(?_24108174)_(24110081_?)dup
|
|
|
NC_000022.10:g.(?_24108194)_(24108482_?)del
|
|
|
NC_000022.10:g.(?_24109541)_(24110061_?)del
|
|
|
NC_000022.10:g.(?_24109541)_(24110081_?)del
|
|
|
NC_000022.11:g.(?_23765824)_(23767603_?)del
|
|
|
NC_000022.11:g.(?_23767364)_(23767982_?)del
|
|
|
NC_000023.10:g.(?_47058202)_(47074328_?)del
|
|
|
NC_000023.10:g.(?_47058202)_(47074328_?)dup
|
|
|
NC_000023.10:g.(?_76888675)_(77264780_?)dup
|
|
|
NC_000023.10:g.(?_77150786)_(77289339_?)dup
|
|
|
NC_000023.10:g.(?_77227108)_(77227268_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77258743_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77305902_?)dup
|
|
|
NC_000023.10:g.(?_77227129)_(77302077_?)dup
|
|
|
NC_000023.10:g.(?_77227139)_(77381327_?)dup
|
|
|
NC_000023.10:g.(?_77243718)_(77245474_?)del
|
|
|
NC_000023.10:g.(?_77243738)_(77302067_?)dup
|
|
|
NC_000023.10:g.(?_77264579)_(77264780_?)dup
|
|
|
NC_000023.10:g.(?_77264589)_(77264770_?)dup
|
|
|
NC_000023.10:g.(?_77264993)_(77268389_?)del
|
|
|
NC_000023.10:g.(?_77266653)_(77268629_?)dup
|
|
|
NC_000023.10:g.(?_77266653)_(77271398_?)dup
|
|
|
NC_000023.10:g.(?_77266663)_(77268619_?)dup
|
|
|
NC_000023.10:g.(?_77270139)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77270149)_(77305902_?)dup
|
|
|
NC_000023.10:g.(?_77271231)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77275721)_(77279056_?)del
|
|
|
NC_000023.10:g.(?_77275721)_(77381327_?)dup
|
|
|
NC_000023.10:g.(?_77275731)_(77302067_?)dup
|
|
|
NC_000023.10:g.(?_77276422)_(77276596_?)del
|
|
|
NC_000023.10:g.(?_77284727)_(77302087_?)dup
|
|
|
NC_000023.10:g.(?_77298795)_(77302067_?)dup
|
|
|
NC_000023.10:g.(?_77300947)_(77302067_?)del
|
|
|
NG_008691.1:g.(32498_32055)_(33073_?)del
|
|
|
NG_031977.1:g.(5321_5338)ins(60_?)
|
rs143561967
|
|
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
|
|
|
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr)
|
|
|
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met)
|
rs2149083240
|
|
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)
|
|
|
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=)
|
|
|
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=)
|
rs374656309
|
|
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=)
|
|
|
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile)
|
|
|
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg)
|
rs2077658544
|
|
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
|
|
|
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp)
|
|
|
NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
|
|
|
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala)
|
rs1557231859
|
|
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser)
|
|
|
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
|
|
|
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
|
|
|
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe)
|
|
|
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=)
|
rs2149083275
|
|
NM_000052.7(ATP7A):c.1077del (p.Ser360fs)
|
|
|
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=)
|
|
|
NM_000052.7(ATP7A):c.108G>A (p.Val36=)
|
rs2149073882
|
|
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile)
|
|
|
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala)
|
rs782616685
|
|
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys)
|
rs2077659011
|
|
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=)
|
|
|
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr)
|
rs1603378831
|
|
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser)
|
|
|
NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs)
|
|
|
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=)
|
rs2149083320
|
|
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
|
|
|
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr)
|
|
|
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
|
|
|
NM_000052.7(ATP7A):c.1154G>A (p.Gly385Asp)
|
|
|
NM_000052.7(ATP7A):c.1157T>G (p.Met386Arg)
|
rs2149083331
|
|
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro)
|
rs1569549600
|
|
NM_000052.7(ATP7A):c.1166A>G (p.Asn389Ser)
|
|
|
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=)
|
rs2149083338
|
|
NM_000052.7(ATP7A):c.1172del (p.Cys391fs)
|
|
|
NM_000052.7(ATP7A):c.1176G>A (p.Val392=)
|
rs2149083343
|
|
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu)
|
|
|
NM_000052.7(ATP7A):c.117T>A (p.Ile39=)
|
|
|
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=)
|
rs2149083355
|
|
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val)
|
|
|
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr)
|
|
|
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala)
|
|
|
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=)
|
rs2149083372
|
|
NM_000052.7(ATP7A):c.120+14T>C
|
|
|
NM_000052.7(ATP7A):c.120+15G>A
|
|
|
NM_000052.7(ATP7A):c.120+20C>T
|
|
|
NM_000052.7(ATP7A):c.120+7T>C
|
rs2149073895
|
|
NM_000052.7(ATP7A):c.120+8A>T
|
|
|
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)
|
|
|
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser)
|
|
|
NM_000052.7(ATP7A):c.120G>A (p.Lys40=)
|
|
|
NM_000052.7(ATP7A):c.121-12T>G
|
|
|
NM_000052.7(ATP7A):c.121-14T>G
|
|
|
NM_000052.7(ATP7A):c.121-2del
|
rs1287511385
|
|
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val)
|
|
|
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe)
|
|
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val)
|
|
|
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys)
|
|
|
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
|
rs781846400
|
|
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
|
|
|
NM_000052.7(ATP7A):c.1257T>G (p.Val419=)
|
|
|
NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs)
|
|
|
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
|
|
|
NM_000052.7(ATP7A):c.126A>G (p.Ser42=)
|
rs2149082519
|
|
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)
|
rs2077660153
|
|
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
|
|
|
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
|
|
|
NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs)
|
|
|
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg)
|
|
|
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
|
|
|
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
|
|
|
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln)
|
|
|
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=)
|
rs2149083467
|
|
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu)
|
rs2149083480
|
|
NM_000052.7(ATP7A):c.1336+10A>G
|
|
|
NM_000052.7(ATP7A):c.1336+3A>G
|
|
|
NM_000052.7(ATP7A):c.1336+7dup
|
|
|
NM_000052.7(ATP7A):c.1336+9C>A
|
|
|
NM_000052.7(ATP7A):c.1337-16T>A
|
|
|
NM_000052.7(ATP7A):c.1337-17C>G
|
|
|
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met)
|
|
|
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=)
|
rs2149087769
|
|
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser)
|
|
|
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
|
|
|
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
|
|
|
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=)
|
rs782421584
|
|
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
|
|
|
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
|
|
|
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu)
|
rs1603381269
|
|
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)
|
rs2077718812
|
|
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser)
|
|
|
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
|
|
|
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His)
|
|
|
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly)
|
rs1377636628
|
|
NM_000052.7(ATP7A):c.140dup (p.Asn47fs)
|
|
|
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala)
|
rs2149087825
|
|
NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs)
|
|
|
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=)
|
rs2149087828
|
|
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
|
|
|
NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs)
|
|
|
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
|
|
|
NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs)
|
|
|
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=)
|
rs2077719509
|
|
NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs)
|
|
|
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly)
|
|
|
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
|
|
|
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=)
|
rs2149087866
|
|
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
|
|
|
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
|
|
|
NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs)
|
|
|
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
|
|
|
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
|
rs2077719880
|
|
NM_000052.7(ATP7A):c.147T>C (p.Thr49=)
|
|
|
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser)
|
|
|
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser)
|
|
|
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr)
|
rs2149087885
|
|
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr)
|
|
|
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=)
|
|
|
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg)
|
|
|
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=)
|
rs2149087893
|
|
NM_000052.7(ATP7A):c.150T>A (p.Ile50=)
|
rs2149082532
|
|
NM_000052.7(ATP7A):c.1523G>A (p.Arg508Gln)
|
|
|
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
|
|
|
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp)
|
rs1030215501
|
|
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=)
|
rs1557232820
|
|
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)
|
rs1569549699
|
|
NM_000052.7(ATP7A):c.1537dup (p.Glu513fs)
|
|
|
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys)
|
|
|
NM_000052.7(ATP7A):c.1543+15A>G
|
|
|
NM_000052.7(ATP7A):c.1543+17G>A
|
rs2149087916
|
|
NM_000052.7(ATP7A):c.1543+18C>T
|
|
|
NM_000052.7(ATP7A):c.1543+8A>C
|
|
|
NM_000052.7(ATP7A):c.1544-16T>G
|
|
|
NM_000052.7(ATP7A):c.1544-1G>C
|
rs797045331
|
|
NM_000052.7(ATP7A):c.1544-2A>T
|
rs2077751404
|
|
NM_000052.7(ATP7A):c.1544-7C>T
|
rs2149090207
|
|
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val)
|
|
|
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=)
|
rs2149090230
|
|
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)
|
|
|
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=)
|
rs2149090234
|
|
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys)
|
|
|
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met)
|
rs782048861
|
|
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp)
|
rs1057524455
|
|
NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs)
|
|
|
NM_000052.7(ATP7A):c.159C>T (p.Asp53=)
|
rs2149082542
|
|
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
|
|
|
NM_000052.7(ATP7A):c.1605del (p.Val536fs)
|
|
|
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu)
|
|
|
NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs)
|
|
|
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
|
|
|
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met)
|
|
|
NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs)
|
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val)
|
rs1557233382
|
|
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
|
|
|
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
|
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val)
|
|
|
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile)
|
|
|
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg)
|
|
|
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
|
|
|
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn)
|
|
|
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=)
|
rs2149090265
|
|
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr)
|
|
|
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs)
|
rs2149090269
|
|
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
|
|
|
NM_000052.7(ATP7A):c.166C>T (p.Leu56=)
|
rs2149082544
|
|
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala)
|
|
|
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr)
|
rs1603383823
|
|
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys)
|
|
|
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln)
|
rs2077752247
|
|
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp)
|
|
|
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg)
|
|
|
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val)
|
rs782561107
|
|
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser)
|
|
|
NM_000052.7(ATP7A):c.1695T>C (p.Val565=)
|
rs2149090293
|
|
NM_000052.7(ATP7A):c.1697del (p.Leu566fs)
|
|
|
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
|
|
|
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=)
|
rs2149090295
|
|
NM_000052.7(ATP7A):c.1707+12T>G
|
|
|
NM_000052.7(ATP7A):c.1707+16del
|
|
|
NM_000052.7(ATP7A):c.1707+17G>A
|
|
|
NM_000052.7(ATP7A):c.1707+19G>A
|
|
|
NM_000052.7(ATP7A):c.1707+9G>C
|
rs2149090300
|
|
NM_000052.7(ATP7A):c.1708-16G>A
|
|
|
NM_000052.7(ATP7A):c.1708-19A>G
|
|
|
NM_000052.7(ATP7A):c.1708-5A>C
|
rs782104249
|
|
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu)
|
|
|
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
|
|
|
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg)
|
rs782076879
|
|
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe)
|
rs2149093499
|
|
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=)
|
rs2149093501
|
|
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile)
|
rs372116692
|
|
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
|
|
|
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
|
rs2077799245
|
|
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile)
|
|
|
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
|
|
|
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln)
|
rs1603384813
|
|
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
|
|
|
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)
|
|
|
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
|
|
|
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=)
|
rs2149093521
|
|
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val)
|
rs2149093524
|
|
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=)
|
rs1557234093
|
|
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His)
|
|
|
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=)
|
|
|
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1793C>T (p.Ala598Val)
|
rs782386693
|
|
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val)
|
rs2149093539
|
|
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp)
|
rs2077547692
|
|
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser)
|
|
|
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
|
|
|
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys)
|
|
|
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg)
|
|
|
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
|
|
|
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr)
|
rs2149093552
|
|
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg)
|
rs1020034878
|
|
NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)
|
|
|
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala)
|
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
|
|
|
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val)
|
rs1399879043
|
|
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln)
|
|
|
NM_000052.7(ATP7A):c.1869+12G>T
|
|
|
NM_000052.7(ATP7A):c.1869+17del
|
|
|
NM_000052.7(ATP7A):c.1869+4A>G
|
|
|
NM_000052.7(ATP7A):c.1869+7G>A
|
rs2149093596
|
|
NM_000052.7(ATP7A):c.1869+7G>T
|
rs2149093596
|
|
NM_000052.7(ATP7A):c.1869+9C>G
|
rs2149093599
|
|
NM_000052.7(ATP7A):c.186A>G (p.Leu62=)
|
rs2149082562
|
|
NM_000052.7(ATP7A):c.1870-14A>G
|
|
|
NM_000052.7(ATP7A):c.1870-18T>C
|
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
NM_000052.7(ATP7A):c.1870-7T>G
|
|
|
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=)
|
rs2149094927
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs)
|
|
|
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
|
|
|
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser)
|
rs876661241
|
|
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile)
|
|
|
NM_000052.7(ATP7A):c.1896C>G (p.Val632=)
|
rs2149094955
|
|
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu)
|
rs2149094957
|
|
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
|
|
|
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
|
|
|
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu)
|
|
|
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp)
|
rs1057523112
|
|
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=)
|
|
|
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=)
|
|
|
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly)
|
|
|
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn)
|
|
|
NM_000052.7(ATP7A):c.1920C>T (p.His640=)
|
rs2149094980
|
|
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn)
|
|
|
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)
|
|
|
NM_000052.7(ATP7A):c.1924del (p.Asp642fs)
|
|
|
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu)
|
|
|
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=)
|
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala)
|
rs2077822914
|
|
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
|
|
|
NM_000052.7(ATP7A):c.1945_1946+2dup
|
rs2077822992
|
|
NM_000052.7(ATP7A):c.1946+10T>G
|
rs2149095008
|
|
NM_000052.7(ATP7A):c.1946+12G>A
|
|
|
NM_000052.7(ATP7A):c.1946+12G>C
|
|
|
NM_000052.7(ATP7A):c.1946+15G>C
|
|
|
NM_000052.7(ATP7A):c.1946+16T>G
|
|
|
NM_000052.7(ATP7A):c.1947-15T>C
|
|
|
NM_000052.7(ATP7A):c.1947-16A>C
|
|
|
NM_000052.7(ATP7A):c.1947-16_1947-14del
|
rs2077824641
|
|
NM_000052.7(ATP7A):c.1947-16del
|
rs2149095131
|
|
NM_000052.7(ATP7A):c.1947-17T>A
|
|
|
NM_000052.7(ATP7A):c.1947-18T>C
|
|
|
NM_000052.7(ATP7A):c.1947-19T>C
|
|
|
NM_000052.7(ATP7A):c.1947-7A>C
|
|
|
NM_000052.7(ATP7A):c.1947-9C>T
|
rs2077824790
|
|
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=)
|
rs2077825077
|
|
NM_000052.7(ATP7A):c.1966G>C (p.Val656Leu)
|
|
|
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val)
|
|
|
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser)
|
|
|
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr)
|
|
|
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe)
|
|
|
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu)
|
|
|
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu)
|
|
|
NM_000052.7(ATP7A):c.1992A>G (p.Val664=)
|
|
|
NM_000052.7(ATP7A):c.19G>A (p.Val7Met)
|
|
|
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=)
|
rs2077825500
|
|
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=)
|
rs2077825500
|
|
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=)
|
rs2149095200
|
|
NM_000052.7(ATP7A):c.2013G>A (p.Met671Ile)
|
|
|
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
|
|
|
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr)
|
|
|
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle)
|
rs1569549885
|
|
NM_000052.7(ATP7A):c.2028C>T (p.His676=)
|
rs2149095212
|
|
NM_000052.7(ATP7A):c.2030A>G (p.His677Arg)
|
|
|
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys)
|
|
|
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=)
|
rs2077825942
|
|
NM_000052.7(ATP7A):c.2045_2046del (p.His682fs)
|
|
|
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
|
|
|
NM_000052.7(ATP7A):c.2051del (p.Asn684fs)
|
|
|
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
|
|
|
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
|
|
|
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu)
|
|
|
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=)
|
rs2149095237
|
|
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
|
|
|
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del)
|
|
|
NM_000052.7(ATP7A):c.2086_2087del (p.His696fs)
|
|
|
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys)
|
|
|
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe)
|
rs2077826335
|
|
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=)
|
rs2077826356
|
|
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys)
|
rs2149095258
|
|
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
|
|
|
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
|
|
|
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)
|
|
|
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His)
|
|
|
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His)
|
|
|
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=)
|
|
|
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe)
|
|
|
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=)
|
rs2077826844
|
|
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=)
|
rs2149095287
|
|
NM_000052.7(ATP7A):c.2149T>C (p.Phe717Leu)
|
rs1557234537
|
|
NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr)
|
rs2077650482
|
|
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
|
|
|
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly)
|
rs1569549892
|
|
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=)
|
rs797045346
|
|
NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs)
|
|
|
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
|
|
|
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)
|
|
|
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu)
|
|
|
NM_000052.7(ATP7A):c.2172+12G>C
|
rs1557234548
|
|
NM_000052.7(ATP7A):c.2172+13T>C
|
|
|
NM_000052.7(ATP7A):c.2172+2C>T
|
rs2077827112
|
|
NM_000052.7(ATP7A):c.2172+5G>A
|
rs797045347
|
|
NM_000052.7(ATP7A):c.2172+5G>C
|
rs797045347
|
|
NM_000052.7(ATP7A):c.2172+8A>C
|
rs2149095311
|
|
NM_000052.7(ATP7A):c.2172+8_2172+12dup
|
rs782170618
|
|
NM_000052.7(ATP7A):c.2173-15A>G
|
|
|
NM_000052.7(ATP7A):c.2173-15A>T
|
|
|
NM_000052.7(ATP7A):c.2173-4G>T
|
|
|
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu)
|
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu)
|
rs2149095964
|
|
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
|
rs2077837052
|
|
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)
|
rs2149095968
|
|
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)
|
|
|
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=)
|
|
|
NM_000052.7(ATP7A):c.21G>C (p.Val7=)
|
rs2149073808
|
|
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys)
|
|
|
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His)
|
rs2149095977
|
|
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
|
|
|
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe)
|
rs1569549929
|
|
NM_000052.7(ATP7A):c.2207del (p.Tyr736fs)
|
|
|
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=)
|
rs1557234725
|
|
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
|
|
|
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
|
|
|
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg)
|
rs2077837209
|
|
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)
|
|
|
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
|
|
|
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr)
|
|
|
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
|
|
|
NM_000052.7(ATP7A):c.2244A>G (p.Val748=)
|
rs2149095993
|
|
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=)
|
|
|
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
|
|
|
NM_000052.7(ATP7A):c.2253G>T (p.Val751=)
|
|
|
NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs)
|
|
|
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=)
|
|
|
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=)
|
rs2149096003
|
|
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=)
|
rs1473914623
|
|
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=)
|
|
|
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
|
|
|
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=)
|
rs2149096036
|
|
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=)
|
rs2149096038
|
|
NM_000052.7(ATP7A):c.2334dup (p.Thr779fs)
|
|
|
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu)
|
rs2077838145
|
|
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly)
|
|
|
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=)
|
|
|
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=)
|
|
|
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=)
|
|
|
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr)
|
rs1057523512
|
|
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
|
|
|
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=)
|
rs2149096056
|
|
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
|
|
|
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=)
|
rs2149096057
|
|
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
|
rs781834675
|
|
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly)
|
|
|
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
|
|
|
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met)
|
rs2077838404
|
|
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=)
|
rs1208805004
|
|
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
|
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=)
|
rs1603385697
|
|
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
|
|
|
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu)
|
|
|
NM_000052.7(ATP7A):c.2406+12A>C
|
|
|
NM_000052.7(ATP7A):c.2406+14G>A
|
|
|
NM_000052.7(ATP7A):c.2406+14G>T
|
|
|
NM_000052.7(ATP7A):c.2406+16G>A
|
|
|
NM_000052.7(ATP7A):c.2406+16G>T
|
|
|
NM_000052.7(ATP7A):c.2406+16_2406+18del
|
rs782017566
|
|
NM_000052.7(ATP7A):c.2406+19A>T
|
|
|
NM_000052.7(ATP7A):c.2406+20C>T
|
|
|
NM_000052.7(ATP7A):c.2406+6G>A
|
rs782307719
|
|
NM_000052.7(ATP7A):c.2407-10del
|
|
|
NM_000052.7(ATP7A):c.2407-19T>A
|
|
|
NM_000052.7(ATP7A):c.2407-19TGTT[3]
|
|
|
NM_000052.7(ATP7A):c.2407-4A>G
|
rs2149096806
|
|
NM_000052.7(ATP7A):c.2407-4A>T
|
rs2149096806
|
|
NM_000052.7(ATP7A):c.2407G>A (p.Gly803Ser)
|
|
|
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
|
|
|
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser)
|
|
|
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu)
|
|
|
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
|
|
|
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr)
|
|
|
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=)
|
rs782694822
|
|
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
|
|
|
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val)
|
rs781879594
|
|
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile)
|
|
|
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=)
|
rs2149096833
|
|
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)
|
|
|
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly)
|
|
|
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro)
|
rs1557234938
|
|
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=)
|
|
|
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=)
|
rs2149096836
|
|
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=)
|
rs2149096842
|
|
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
|
|
|
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr)
|
rs782768766
|
|
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)
|
rs1569549974
|
|
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser)
|
|
|
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
|
|
|
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
|
|
|
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe)
|
|
|
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)
|
|
|
NM_000052.7(ATP7A):c.2498+16C>G
|
|
|
NM_000052.7(ATP7A):c.2498+18T>C
|
|
|
NM_000052.7(ATP7A):c.2498+2T>G
|
rs797045357
|
|
NM_000052.7(ATP7A):c.2498+3A>T
|
rs1603386005
|
|
NM_000052.7(ATP7A):c.2499-10T>C
|
rs2149097330
|
|
NM_000052.7(ATP7A):c.2499-11C>A
|
|
|
NM_000052.7(ATP7A):c.2499-12A>T
|
rs2149097328
|
|
NM_000052.7(ATP7A):c.2499-18A>G
|
|
|
NM_000052.7(ATP7A):c.2499-20T>C
|
|
|
NM_000052.7(ATP7A):c.2499-3C>T
|
rs2077858280
|
|
NM_000052.7(ATP7A):c.2499-7T>A
|
|
|
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly)
|
rs1603386154
|
|
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser)
|
|
|
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe)
|
|
|
NM_000052.7(ATP7A):c.2526A>G (p.Val842=)
|
|
|
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg)
|
|
|
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=)
|
|
|
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)
|
|
|
NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)
|
|
|
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
|
|
|
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)
|
rs2077859082
|
|
NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly)
|
rs2149082599
|
|
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=)
|
rs2149097387
|
|
NM_000052.7(ATP7A):c.2586T>G (p.Val862=)
|
rs2149097395
|
|
NM_000052.7(ATP7A):c.2588T>C (p.Ile863Thr)
|
|
|
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr)
|
rs2149097408
|
|
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile)
|
rs782769542
|
|
NM_000052.7(ATP7A):c.261C>G (p.Thr87=)
|
rs2149082604
|
|
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg)
|
|
|
NM_000052.7(ATP7A):c.2626+11T>G
|
rs2077859760
|
|
NM_000052.7(ATP7A):c.2626+12C>G
|
|
|
NM_000052.7(ATP7A):c.2626+13A>G
|
|
|
NM_000052.7(ATP7A):c.2626+16G>A
|
rs2149097436
|
|
NM_000052.7(ATP7A):c.2626+17G>C
|
|
|
NM_000052.7(ATP7A):c.2626+18A>G
|
|
|
NM_000052.7(ATP7A):c.2626+5G>T
|
rs2149097418
|
|
NM_000052.7(ATP7A):c.2626+8C>T
|
rs2149097424
|
|
NM_000052.7(ATP7A):c.2627-13A>T
|
|
|
NM_000052.7(ATP7A):c.2627-16T>G
|
|
|
NM_000052.7(ATP7A):c.2627-19A>G
|
|
|
NM_000052.7(ATP7A):c.2627-19A>T
|
|
|
NM_000052.7(ATP7A):c.2627-7C>T
|
rs1603386991
|
|
NM_000052.7(ATP7A):c.2627-8C>G
|
|
|
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=)
|
|
|
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu)
|
|
|
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
|
|
|
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
|
|
|
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His)
|
|
|
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=)
|
rs781976106
|
|
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
|
|
|
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=)
|
rs2149099638
|
|
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro)
|
|
|
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)
|
rs2077896094
|
|
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala)
|
|
|
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=)
|
|
|
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=)
|
rs2149099672
|
|
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=)
|
rs2149099676
|
|
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val)
|
|
|
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=)
|
rs1396353749
|
|
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=)
|
rs1193758510
|
|
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr)
|
|
|
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala)
|
|
|
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=)
|
rs2149099708
|
|
NM_000052.7(ATP7A):c.2747T>C (p.Ile916Thr)
|
|
|
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys)
|
|
|
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln)
|
rs2149099719
|
|
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly)
|
|
|
NM_000052.7(ATP7A):c.2773_2781+4del
|
|
|
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=)
|
rs1603387045
|
|
NM_000052.7(ATP7A):c.2781+14C>T
|
|
|
NM_000052.7(ATP7A):c.2781+17G>C
|
|
|
NM_000052.7(ATP7A):c.2781+5C>T
|
|
|
NM_000052.7(ATP7A):c.2781+8A>T
|
rs2149099742
|
|
NM_000052.7(ATP7A):c.2782-11T>C
|
|
|
NM_000052.7(ATP7A):c.2782-13T>C
|
|
|
NM_000052.7(ATP7A):c.2782-14A>G
|
|
|
NM_000052.7(ATP7A):c.2782-14del
|
|
|
NM_000052.7(ATP7A):c.2782-17_2782-15del
|
|
|
NM_000052.7(ATP7A):c.2782-4C>T
|
|
|
NM_000052.7(ATP7A):c.2782-6T>C
|
|
|
NM_000052.7(ATP7A):c.2782-8A>C
|
rs2149100096
|
|
NM_000052.7(ATP7A):c.2782-9T>C
|
|
|
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val)
|
|
|
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=)
|
rs2149100114
|
|
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met)
|
|
|
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly)
|
|
|
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=)
|
rs2149100126
|
|
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
|
|
|
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser)
|
rs1569550056
|
|
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys)
|
|
|
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
|
|
|
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser)
|
|
|
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile)
|
rs2077902319
|
|
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe)
|
|
|
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
|
|
|
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr)
|
rs1557235719
|
|
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
|
|
|
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn)
|
|
|
NM_000052.7(ATP7A):c.2874A>C (p.Val958=)
|
|
|
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val)
|
|
|
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp)
|
|
|
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=)
|
|
|
NM_000052.7(ATP7A):c.2916+11T>G
|
|
|
NM_000052.7(ATP7A):c.2916+19C>T
|
|
|
NM_000052.7(ATP7A):c.2916+3A>T
|
rs2149100212
|
|
NM_000052.7(ATP7A):c.2916+3_2916+6del
|
rs797045364
|
|
NM_000052.7(ATP7A):c.2917-13C>A
|
rs1343084607
|
|
NM_000052.7(ATP7A):c.2917-13C>T
|
|
|
NM_000052.7(ATP7A):c.2917-14C>T
|
|
|
NM_000052.7(ATP7A):c.2917-15G>T
|
|
|
NM_000052.7(ATP7A):c.2917-16T>C
|
|
|
NM_000052.7(ATP7A):c.2917-19T>G
|
|
|
NM_000052.7(ATP7A):c.2917-6C>T
|
|
|
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val)
|
|
|
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=)
|
rs1557236690
|
|
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
|
|
|
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys)
|
|
|
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly)
|
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)
|
|
|
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=)
|
rs782757659
|
|
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=)
|
|
|
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=)
|
rs782757659
|
|
NM_000052.7(ATP7A):c.2953del (p.Ile985fs)
|
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=)
|
rs2077967350
|
|
NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp)
|
rs1557236729
|
|
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val)
|
rs1353488746
|
|
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
|
|
|
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)
|
rs267606673
|
|
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly)
|
rs2077967548
|
|
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
|
|
|
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)
|
rs797045365
|
|
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro)
|
|
|
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=)
|
rs2077967684
|
|
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=)
|
rs2149104881
|
|
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)
|
|
|
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
|
|
|
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
|
|
|
NM_000052.7(ATP7A):c.3028A>T (p.Thr1010Ser)
|
rs782480109
|
|
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val)
|
rs1557236745
|
|
NM_000052.7(ATP7A):c.302A>G (p.Asp101Gly)
|
|
|
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=)
|
rs2149104907
|
|
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu)
|
rs1557236747
|
|
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
|
|
|
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=)
|
|
|
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=)
|
rs2149104924
|
|
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=)
|
rs2149104926
|
|
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser)
|
rs2077968146
|
|
NM_000052.7(ATP7A):c.305A>G (p.His102Arg)
|
rs1253495703
|
|
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys)
|
|
|
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=)
|
|
|
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met)
|
|
|
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=)
|
|
|
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=)
|
rs2149104947
|
|
NM_000052.7(ATP7A):c.3081del (p.Gly1028fs)
|
|
|
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile)
|
|
|
NM_000052.7(ATP7A):c.3111+10T>C
|
|
|
NM_000052.7(ATP7A):c.3111+10T>G
|
|
|
NM_000052.7(ATP7A):c.3111+11C>A
|
|
|
NM_000052.7(ATP7A):c.3111+13C>G
|
|
|
NM_000052.7(ATP7A):c.3111+18A>T
|
rs2149104971
|
|
NM_000052.7(ATP7A):c.3111+19C>T
|
|
|
NM_000052.7(ATP7A):c.3111+6A>G
|
rs2077968712
|
|
NM_000052.7(ATP7A):c.3111+7C>T
|
|
|
NM_000052.7(ATP7A):c.3111+8A>G
|
|
|
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
|
|
|
NM_000052.7(ATP7A):c.3112-15_3112-14dup
|
rs2077982901
|
|
NM_000052.7(ATP7A):c.3112-16C>G
|
rs2149106076
|
|
NM_000052.7(ATP7A):c.3112-18A>G
|
|
|
NM_000052.7(ATP7A):c.3112-5T>C
|
rs2149106085
|
|
NM_000052.7(ATP7A):c.3112-5dup
|
rs1569550186
|
|
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
|
|
|
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
|
|
|
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile)
|
|
|
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
|
|
|
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala)
|
rs2077983152
|
|
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro)
|
|
|
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)
|
|
|
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=)
|
rs797045370
|
|
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=)
|
|
|
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln)
|
rs142998552
|
|
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala)
|
|
|
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=)
|
|
|
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=)
|
rs371089220
|
|
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=)
|
|
|
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg)
|
rs2077983527
|
|
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val)
|
|
|
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=)
|
rs2149106139
|
|
NM_000052.7(ATP7A):c.319T>C (p.Leu107=)
|
rs2149082638
|
|
NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs)
|
|
|
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser)
|
rs2149106147
|
|
NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs)
|
|
|
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg)
|
|
|
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val)
|
|
|
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=)
|
rs2149106153
|
|
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn)
|
rs1603389390
|
|
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp)
|
|
|
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
|
|
|
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)
|
rs1603389393
|
|
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=)
|
rs2149106168
|
|
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=)
|
rs2149106169
|
|
NM_000052.7(ATP7A):c.3256C>T (p.His1086Tyr)
|
|
|
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
|
|
|
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile)
|
rs2149106178
|
|
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr)
|
|
|
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile)
|
rs996808810
|
|
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile)
|
|
|
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
|
|
|
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly)
|
|
|
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln)
|
rs1557237081
|
|
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)
|
|
|
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_000052.7(ATP7A):c.3294+12dup
|
rs1223290704
|
|
NM_000052.7(ATP7A):c.3294+14C>T
|
|
|
NM_000052.7(ATP7A):c.3294+15dup
|
|
|
NM_000052.7(ATP7A):c.3294+16C>T
|
|
|
NM_000052.7(ATP7A):c.3294+1G>A
|
rs797045374
|
|
NM_000052.7(ATP7A):c.3294+7T>G
|
|
|
NM_000052.7(ATP7A):c.3295-11_3295-10del
|
|
|
NM_000052.7(ATP7A):c.3295-14T>C
|
|
|
NM_000052.7(ATP7A):c.3295-16T>C
|
|
|
NM_000052.7(ATP7A):c.3295-5G>T
|
rs2149107138
|
|
NM_000052.7(ATP7A):c.3295-6del
|
rs1557237411
|
|
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly)
|
|
|
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
|
|
|
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr)
|
rs2149107157
|
|
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
|
|
|
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu)
|
|
|
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile)
|
rs879254006
|
|
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu)
|
|
|
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
|
|
|
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser)
|
rs2149107164
|
|
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser)
|
|
|
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
|
|
|
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=)
|
rs2149107179
|
|
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
|
|
|
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
|
|
|
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile)
|
|
|
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe)
|
rs2077995918
|
|
NM_000052.7(ATP7A):c.338_339del (p.Val113fs)
|
|
|
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr)
|
rs2077996076
|
|
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
|
|
|
NM_000052.7(ATP7A):c.3415G>A (p.Asp1139Asn)
|
rs2149107203
|
|
NM_000052.7(ATP7A):c.3421A>C (p.Asn1141His)
|
rs2149107206
|
|
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
|
|
|
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
|
|
|
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val)
|
|
|
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr)
|
|
|
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu)
|
|
|
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
|
|
|
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser)
|
rs1288867080
|
|
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=)
|
rs2149107223
|
|
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
|
|
|
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
|
|
|
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)
|
rs1557237451
|
|
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile)
|
rs1557237452
|
|
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=)
|
|
|
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val)
|
|
|
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys)
|
|
|
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile)
|
|
|
NM_000052.7(ATP7A):c.348del (p.Ile118fs)
|
|
|
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr)
|
|
|
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu)
|
|
|
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=)
|
rs2077996988
|
|
NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs)
|
|
|
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)
|
|
|
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=)
|
|
|
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=)
|
|
|
NM_000052.7(ATP7A):c.3511+8A>C
|
rs2149107265
|
|
NM_000052.7(ATP7A):c.3511+9A>C
|
|
|
NM_000052.7(ATP7A):c.3511+9A>T
|
rs2149107266
|
|
NM_000052.7(ATP7A):c.3512-14G>A
|
|
|
NM_000052.7(ATP7A):c.3512-16C>T
|
|
|
NM_000052.7(ATP7A):c.3512-6T>C
|
rs2078029932
|
|
NM_000052.7(ATP7A):c.3512-7C>T
|
|
|
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr)
|
|
|
NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs)
|
|
|
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe)
|
|
|
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro)
|
|
|
NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs)
|
|
|
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del)
|
|
|
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile)
|
rs876661235
|
|
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
|
|
|
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)
|
rs2078030304
|
|
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu)
|
|
|
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val)
|
|
|
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
|
|
|
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr)
|
rs782588862
|
|
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)
|
rs2149109587
|
|
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)
|
|
|
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)
|
|
|
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser)
|
|
|
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)
|
|
|
NM_000052.7(ATP7A):c.3602A>T (p.Asp1201Val)
|
|
|
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val)
|
|
|
NM_000052.7(ATP7A):c.3605T>C (p.Phe1202Ser)
|
rs2078030949
|
|
NM_000052.7(ATP7A):c.360T>A (p.Pro120=)
|
rs1557231616
|
|
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
|
|
|
NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs)
|
|
|
NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs)
|
|
|
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
|
|
|
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu)
|
|
|
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
|
|
|
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
|
|
|
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala)
|
|
|
NM_000052.7(ATP7A):c.3658+17G>T
|
|
|
NM_000052.7(ATP7A):c.3658+19A>G
|
|
|
NM_000052.7(ATP7A):c.3658+4A>T
|
|
|
NM_000052.7(ATP7A):c.3659-1G>A
|
rs2149110457
|
|
NM_000052.7(ATP7A):c.3659-7A>G
|
|
|
NM_000052.7(ATP7A):c.3659-9C>T
|
|
|
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)
|
|
|
NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs)
|
|
|
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
|
|
|
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr)
|
|
|
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly)
|
|
|
NM_000052.7(ATP7A):c.3692del (p.Thr1231fs)
|
|
|
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=)
|
rs2149110480
|
|
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys)
|
rs2149110482
|
|
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly)
|
|
|
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
|
|
|
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val)
|
|
|
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe)
|
rs1603390828
|
|
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
|
|
|
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr)
|
|
|
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu)
|
|
|
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
|
rs782688596
|
|
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=)
|
|
|
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=)
|
rs2149110492
|
|
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn)
|
|
|
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile)
|
|
|
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
|
|
|
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser)
|
rs2078041778
|
|
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=)
|
rs1557238272
|
|
NM_000052.7(ATP7A):c.3788C>A (p.Ser1263Tyr)
|
|
|
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys)
|
rs372066609
|
|
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr)
|
rs2078042001
|
|
NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs)
|
|
|
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
|
|
|
NM_000052.7(ATP7A):c.3801+11G>A
|
|
|
NM_000052.7(ATP7A):c.3801+13G>T
|
|
|
NM_000052.7(ATP7A):c.3801+17T>C
|
|
|
NM_000052.7(ATP7A):c.3801+20G>A
|
|
|
NM_000052.7(ATP7A):c.3802-12T>C
|
|
|
NM_000052.7(ATP7A):c.3802-15A>G
|
|
|
NM_000052.7(ATP7A):c.3802-1G>A
|
rs398123135
|
|
NM_000052.7(ATP7A):c.3802-6A>G
|
rs2149111706
|
|
NM_000052.7(ATP7A):c.3802-6A>T
|
rs2149111706
|
|
NM_000052.7(ATP7A):c.380_381del (p.Val127fs)
|
|
|
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=)
|
rs2149111712
|
|
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile)
|
rs932523090
|
|
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=)
|
rs2149111740
|
|
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=)
|
|
|
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)
|
|
|
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val)
|
|
|
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=)
|
rs1043267619
|
|
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=)
|
rs2149111751
|
|
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=)
|
|
|
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)
|
rs1603391120
|
|
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)
|
rs999014839
|
|
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
|
|
|
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=)
|
|
|
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=)
|
|
|
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=)
|
rs372489000
|
|
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=)
|
|
|
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile)
|
|
|
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser)
|
|
|
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=)
|
|
|
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=)
|
|
|
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=)
|
rs2149111823
|
|
NM_000052.7(ATP7A):c.393T>A (p.Pro131=)
|
|
|
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
|
|
|
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
|
|
|
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val)
|
|
|
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
|
|
|
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
|
|
|
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu)
|
|
|
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=)
|
rs369114635
|
|
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile)
|
rs782692001
|
|
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
|
|
|
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly)
|
|
|
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=)
|
|
|
NM_000052.7(ATP7A):c.39T>C (p.Ser13=)
|
rs986987107
|
|
NM_000052.7(ATP7A):c.4005+12G>A
|
|
|
NM_000052.7(ATP7A):c.4005+13G>T
|
|
|
NM_000052.7(ATP7A):c.4005+16T>A
|
|
|
NM_000052.7(ATP7A):c.4005+17G>C
|
|
|
NM_000052.7(ATP7A):c.4005+1G>T
|
rs797045391
|
|
NM_000052.7(ATP7A):c.4005+5G>A
|
|
|
NM_000052.7(ATP7A):c.4006-10C>G
|
|
|
NM_000052.7(ATP7A):c.4006-13T>C
|
|
|
NM_000052.7(ATP7A):c.4006-1G>A
|
rs1557238665
|
|
NM_000052.7(ATP7A):c.4006-4T>C
|
|
|
NM_000052.7(ATP7A):c.4006-7T>A
|
|
|
NM_000052.7(ATP7A):c.400G>A (p.Val134Met)
|
|
|
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu)
|
rs371441365
|
|
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
|
|
|
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
|
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|
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=)
|
rs2078061918
|
|
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile)
|
|
|
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala)
|
rs2149112223
|
|
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
|
rs2078061940
|
|
NM_000052.7(ATP7A):c.402G>C (p.Val134=)
|
|
|
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu)
|
rs375819425
|
|
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=)
|
rs375819425
|
|
NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)
|
|
|
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)
|
|
|
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr)
|
rs2149112238
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn)
|
|
|
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp)
|
|
|
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
|
|
|
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
|
rs2078062220
|
|
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=)
|
rs1603391261
|
|
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser)
|
rs1603391261
|
|
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=)
|
rs2078062354
|
|
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=)
|
|
|
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
|
|
|
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe)
|
|
|
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile)
|
rs782483019
|
|
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser)
|
rs2149082684
|
|
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=)
|
|
|
NM_000052.7(ATP7A):c.4123+12T>A
|
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|
NM_000052.7(ATP7A):c.4123+17T>C
|
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|
NM_000052.7(ATP7A):c.4123+17T>G
|
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|
NM_000052.7(ATP7A):c.4124-13A>G
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|
NM_000052.7(ATP7A):c.4124-16C>T
|
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|
NM_000052.7(ATP7A):c.4124-17C>A
|
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|
NM_000052.7(ATP7A):c.4124-3T>C
|
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|
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)
|
|
|
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser)
|
|
|
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=)
|
rs2149113522
|
|
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
|
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly)
|
|
|
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile)
|
rs2149113528
|
|
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala)
|
|
|
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)
|
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|
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=)
|
rs2149113538
|
|
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=)
|
rs2149113545
|
|
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)
|
|
|
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg)
|
|
|
NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs)
|
|
|
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala)
|
rs2149113564
|
|
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val)
|
|
|
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg)
|
|
|
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile)
|
rs2149113574
|
|
NM_000052.7(ATP7A):c.4226+12A>G
|
|
|
NM_000052.7(ATP7A):c.4226+18C>A
|
|
|
NM_000052.7(ATP7A):c.4226+20C>T
|
|
|
NM_000052.7(ATP7A):c.4226+6T>G
|
|
|
NM_000052.7(ATP7A):c.4226+7A>G
|
|
|
NM_000052.7(ATP7A):c.4226+9G>A
|
rs1557239012
|
|
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro)
|
|
|
NM_000052.7(ATP7A):c.4227-10A>G
|
|
|
NM_000052.7(ATP7A):c.4227-11C>T
|
rs2149113924
|
|
NM_000052.7(ATP7A):c.4227-12G>C
|
|
|
NM_000052.7(ATP7A):c.4227-16T>C
|
|
|
NM_000052.7(ATP7A):c.4227-17C>T
|
|
|
NM_000052.7(ATP7A):c.4227-18del
|
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys)
|
|
|
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
|
|
|
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
|
|
|
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
|
|
|
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly)
|
rs2149113944
|
|
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys)
|
|
|
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=)
|
rs2078083306
|
|
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)
|
|
|
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser)
|
|
|
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=)
|
rs2149113967
|
|
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly)
|
rs2149113979
|
|
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=)
|
rs2149113981
|
|
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
|
|
|
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg)
|
|
|
NM_000052.7(ATP7A):c.4288A>G (p.Ser1430Gly)
|
rs2149113992
|
|
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn)
|
|
|
NM_000052.7(ATP7A):c.429T>G (p.Val143=)
|
rs2149082691
|
|
NM_000052.7(ATP7A):c.4300A>C (p.Ile1434Leu)
|
rs2149113995
|
|
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=)
|
rs2149114009
|
|
NM_000052.7(ATP7A):c.4316G>C (p.Gly1439Ala)
|
|
|
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr)
|
|
|
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg)
|
|
|
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr)
|
|
|
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=)
|
rs2149114035
|
|
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=)
|
rs2149114038
|
|
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=)
|
rs2149114044
|
|
NM_000052.7(ATP7A):c.4356G>T (p.Leu1452Phe)
|
|
|
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu)
|
rs147848649
|
|
NM_000052.7(ATP7A):c.437del (p.Leu146fs)
|
rs2149082699
|
|
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
|
|
|
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
|
|
|
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn)
|
|
|
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn)
|
|
|
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
|
|
|
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg)
|
rs1557239147
|
|
NM_000052.7(ATP7A):c.4447G>T (p.Asp1483Tyr)
|
rs2149114118
|
|
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
|
|
|
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala)
|
|
|
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=)
|
rs1603391708
|
|
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
|
|
|
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu)
|
rs2149114133
|
|
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys)
|
|
|
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn)
|
|
|
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly)
|
rs1557239152
|
|
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
|
|
|
NM_000052.7(ATP7A):c.453del (p.Thr152fs)
|
rs1603381331
|
|
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp)
|
|
|
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)
|
rs2077652014
|
|
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
|
|
|
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met)
|
rs2149082707
|
|
NM_000052.7(ATP7A):c.469_470del (p.Ser157fs)
|
|
|
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys)
|
|
|
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
|
|
|
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr)
|
|
|
NM_000052.7(ATP7A):c.48T>G (p.Gly16=)
|
rs2149073819
|
|
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys)
|
|
|
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
|
|
|
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
|
|
|
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)
|
|
|
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
|
|
|
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)
|
|
|
NM_000052.7(ATP7A):c.528A>G (p.Lys176=)
|
rs2149082749
|
|
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)
|
|
|
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)
|
|
|
NM_000052.7(ATP7A):c.534A>G (p.Glu178=)
|
rs2077652554
|
|
NM_000052.7(ATP7A):c.537G>A (p.Gly179=)
|
|
|
NM_000052.7(ATP7A):c.543C>T (p.Thr181=)
|
|
|
NM_000052.7(ATP7A):c.552A>G (p.Ser184=)
|
rs1557231655
|
|
NM_000052.7(ATP7A):c.552A>T (p.Ser184=)
|
|
|
NM_000052.7(ATP7A):c.555T>C (p.Cys185=)
|
|
|
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala)
|
rs1557231656
|
|
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
|
|
|
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
|
|
|
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
|
|
|
NM_000052.7(ATP7A):c.57C>T (p.Cys19=)
|
rs145406974
|
|
NM_000052.7(ATP7A):c.597T>C (p.Val199=)
|
|
|
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu)
|
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln)
|
rs897502448
|
|
NM_000052.7(ATP7A):c.610+10C>T
|
|
|
NM_000052.7(ATP7A):c.610+13G>A
|
|
|
NM_000052.7(ATP7A):c.610+15G>T
|
|
|
NM_000052.7(ATP7A):c.610+18G>T
|
|
|
NM_000052.7(ATP7A):c.610+19A>C
|
|
|
NM_000052.7(ATP7A):c.610+20T>C
|
|
|
NM_000052.7(ATP7A):c.610+2T>C
|
|
|
NM_000052.7(ATP7A):c.611-10T>C
|
rs2149083014
|
|
NM_000052.7(ATP7A):c.611-16del
|
|
|
NM_000052.7(ATP7A):c.611-20T>C
|
|
|
NM_000052.7(ATP7A):c.611-21_611-17del
|
rs1350377636
|
|
NM_000052.7(ATP7A):c.611-5A>G
|
rs1557231730
|
|
NM_000052.7(ATP7A):c.611-6A>G
|
|
|
NM_000052.7(ATP7A):c.612C>T (p.Val204=)
|
rs2077655830
|
|
NM_000052.7(ATP7A):c.616C>T (p.Leu206=)
|
|
|
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg)
|
rs2149083027
|
|
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro)
|
|
|
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
|
|
|
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
|
|
|
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
|
|
|
NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr)
|
rs2149083046
|
|
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr)
|
rs2077548143
|
|
NM_000052.7(ATP7A):c.674T>A (p.Met225Lys)
|
|
|
NM_000052.7(ATP7A):c.675G>A (p.Met225Ile)
|
|
|
NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
|
|
|
NM_000052.7(ATP7A):c.67G>A (p.Val23Ile)
|
|
|
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr)
|
rs1557231750
|
|
NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
|
|
|
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp)
|
|
|
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr)
|
rs2149083058
|
|
NM_000052.7(ATP7A):c.69T>G (p.Val23=)
|
|
|
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu)
|
|
|
NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs)
|
|
|
NM_000052.7(ATP7A):c.714C>A (p.Val238=)
|
rs2149083069
|
|
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)
|
|
|
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
|
|
|
NM_000052.7(ATP7A):c.722A>G (p.Gln241Arg)
|
rs2077656389
|
|
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg)
|
|
|
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr)
|
rs184646064
|
|
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
|
|
|
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser)
|
|
|
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
|
|
|
NM_000052.7(ATP7A):c.753T>C (p.Asp251=)
|
rs2149083096
|
|
NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs)
|
|
|
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile)
|
|
|
NM_000052.7(ATP7A):c.756A>G (p.Val252=)
|
|
|
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
|
|
|
NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
|
|
|
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
|
|
|
NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
|
|
|
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr)
|
rs2077656822
|
|
NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
|
|
|
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg)
|
|
|
NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
|
|
|
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)
|
rs2149083118
|
|
NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser)
|
rs868946047
|
|
NM_000052.7(ATP7A):c.816A>G (p.Ser272=)
|
rs2149083124
|
|
NM_000052.7(ATP7A):c.81G>A (p.Glu27=)
|
rs2149073851
|
|
NM_000052.7(ATP7A):c.822C>T (p.Thr274=)
|
rs2149083127
|
|
NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile)
|
|
|
NM_000052.7(ATP7A):c.828T>C (p.Asp276=)
|
rs2077656976
|
|
NM_000052.7(ATP7A):c.831A>T (p.Ser277=)
|
rs2149083138
|
|
NM_000052.7(ATP7A):c.833C>G (p.Thr278Arg)
|
|
|
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp)
|
|
|
NM_000052.7(ATP7A):c.837C>T (p.Ala279=)
|
|
|
NM_000052.7(ATP7A):c.843C>T (p.Phe281=)
|
|
|
NM_000052.7(ATP7A):c.849T>A (p.Ile283=)
|
|
|
NM_000052.7(ATP7A):c.84G>A (p.Gln28=)
|
rs1603378828
|
|
NM_000052.7(ATP7A):c.860A>G (p.His287Arg)
|
|
|
NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro)
|
|
|
NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
|
|
|
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
|
|
|
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
|
|
|
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
|
|
|
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro)
|
|
|
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
|
|
|
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)
|
|
|
NM_000052.7(ATP7A):c.903A>C (p.Ala301=)
|
rs1557231803
|
|
NM_000052.7(ATP7A):c.906C>T (p.Leu302=)
|
|
|
NM_000052.7(ATP7A):c.90T>G (p.Ile30Met)
|
rs2149073867
|
|
NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly)
|
|
|
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
|
|
|
NM_000052.7(ATP7A):c.927A>G (p.Val309=)
|
rs2149083187
|
|
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu)
|
rs1569549378
|
|
NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
|
|
|
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser)
|
rs1064797375
|
|
NM_000052.7(ATP7A):c.942T>C (p.Asn314=)
|
rs2149083195
|
|
NM_000052.7(ATP7A):c.945G>A (p.Arg315=)
|
rs2149083198
|
|
NM_000052.7(ATP7A):c.945G>T (p.Arg315Ser)
|
rs2149083198
|
|
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)
|
rs2077548318
|
|
NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu)
|
|
|
NM_000052.7(ATP7A):c.964A>G (p.Asn322Asp)
|
|
|
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr)
|
rs2149083223
|
|
NM_000052.7(ATP7A):c.973_974del (p.Val326fs)
|
|
|
NM_000052.7(ATP7A):c.978C>T (p.Val326=)
|
|
|
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu)
|
rs2077548355
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000344.3:c.*3+32_*3+33insSVA
|
|
|
NM_000344.4(SMN1):c.*3+1G>A
|
rs1290417835
|
|
NM_000344.4(SMN1):c.*3+1G>C
|
rs1290417835
|
|
NM_000344.4(SMN1):c.*3+3A>T
|
rs1749776954
|
|
NM_000344.4(SMN1):c.*3+4_*3+7del
|
|
|
NM_000344.4(SMN1):c.131A>T (p.Asp44Val)
|
rs104893931
|
|
NM_000344.4(SMN1):c.268C>T (p.Gln90Ter)
|
|
|
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)
|
rs1580886828
|
|
NM_000344.4(SMN1):c.280G>T (p.Val94Phe)
|
rs1749440512
|
|
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)
|
rs104893927
|
|
NM_000344.4(SMN1):c.291del (p.Lys97fs)
|
rs2112806309
|
|
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)
|
rs77804083
|
|
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly)
|
rs104893935
|
|
NM_000344.4(SMN1):c.346A>T (p.Ile116Phe)
|
rs104893933
|
|
NM_000344.4(SMN1):c.379T>C (p.Tyr127His)
|
rs1749441633
|
|
NM_000344.4(SMN1):c.388T>C (p.Tyr130His)
|
rs397514518
|
|
NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys)
|
rs397514517
|
|
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)
|
rs77668214
|
|
NM_000344.4(SMN1):c.406C>G (p.Gln136Glu)
|
rs104893934
|
|
NM_000344.4(SMN1):c.419A>T (p.Asp140Val)
|
rs1554081968
|
|
NM_000344.4(SMN1):c.439_443del (p.Glu147fs)
|
rs75991011
|
|
NM_000344.4(SMN1):c.462A>G (p.Gln154=)
|
rs4915
|
|
NM_000344.4(SMN1):c.469C>T (p.Gln157Ter)
|
rs1580886973
|
|
NM_000344.4(SMN1):c.48_55dup (p.Val19fs)
|
rs1561498701
|
|
NM_000344.4(SMN1):c.490C>A (p.Gln164Lys)
|
rs1561499713
|
|
NM_000344.4(SMN1):c.549del (p.Lys184fs)
|
rs2112806512
|
|
NM_000344.4(SMN1):c.724-2A>G
|
rs1561500842
|
|
NM_000344.4(SMN1):c.724_885del (p.Ile242_Ter295del)
|
|
|
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs)
|
rs1561500847
|
|
NM_000344.4(SMN1):c.784A>G (p.Ser262Gly)
|
rs104893932
|
|
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)
|
rs1554066659
|
|
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)
|
|
|
NM_000344.4(SMN1):c.803A>G (p.Tyr268Cys)
|
rs1554082113
|
|
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)
|
rs104893922
|
|
NM_000344.4(SMN1):c.82-2548_723+515del
|
|
|
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)
|
rs1554066666
|
|
NM_000344.4(SMN1):c.834+6T>G
|
rs2112814388
|
|
NM_000344.4(SMN1):c.835-18_835-12del
|
|
|
NM_000344.4(SMN1):c.835-1G>A
|
rs1217001154
|
|
NM_000344.4(SMN1):c.835-21_*3+17del
|
rs1561503058
|
|
NM_000344.4(SMN1):c.835-2A>G
|
rs141760116
|
|
NM_000344.4(SMN1):c.835-2A>T
|
rs141760116
|
|
NM_000344.4(SMN1):c.835-4dup
|
rs1554082376
|
|
NM_000344.4(SMN1):c.835-8_835-5delinsG
|
|
|
NM_000344.4(SMN1):c.835G>C (p.Gly279Arg)
|
|
|
NM_000344.4(SMN1):c.836G>T (p.Gly279Val)
|
rs76163360
|
|
NM_000344.4(SMN1):c.841A>C (p.Arg281=)
|
rs1482083567
|
|
NM_000344.4(SMN1):c.841A>G (p.Arg281Gly)
|
|
|
NM_000344.4(SMN1):c.855_858del (p.Arg288fs)
|
rs1475940018
|
|
NM_000344.4(SMN1):c.855dup (p.Glu286fs)
|
rs1554082383
|
|
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
|
|
|
NM_000344.4(SMN1):c.862A>G (p.Arg288Gly)
|
|
|
NM_000344.4(SMN1):c.862A>T (p.Arg288Trp)
|
|
|
NM_000344.4(SMN1):c.862dup (p.Arg288fs)
|
rs1580895068
|
|
NM_000344.4(SMN1):c.885A>G (p.Ter295=)
|
|
|
NM_000344.4(SMN1):c.88G>A (p.Asp30Asn)
|
rs104893930
|
|
NM_000454.4(SOD1):c.-87G>A
|
rs139202139
|
|
NM_000454.4(SOD1):c.-87G>C
|
rs139202139
|
|
NM_000454.4(SOD1):c.-91C>G
|
rs568985632
|
|
NM_000454.5(SOD1):c.*198G>A
|
rs2049623017
|
|
NM_000454.5(SOD1):c.*273_*276del
|
rs906761540
|
|
NM_000454.5(SOD1):c.-55C>G
|
rs16988395
|
|
NM_000454.5(SOD1):c.-55C>T
|
rs16988395
|
|
NM_000454.5(SOD1):c.-56T>A
|
rs535066119
|
|
NM_000454.5(SOD1):c.106A>T (p.Ile36Phe)
|
rs1057524474
|
|
NM_000454.5(SOD1):c.10A>G (p.Lys4Glu)
|
|
|
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)
|
rs121912431
|
|
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg)
|
rs121912431
|
|
NM_000454.5(SOD1):c.115C>G (p.Leu39Val)
|
rs121912432
|
|
NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)
|
|
|
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly)
|
rs1568809149
|
|
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser)
|
rs121912433
|
|
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp)
|
rs121912434
|
|
NM_000454.5(SOD1):c.131A>G (p.His44Arg)
|
rs121912435
|
|
NM_000454.5(SOD1):c.137T>G (p.Phe46Cys)
|
rs121912457
|
|
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)
|
rs121912444
|
|
NM_000454.5(SOD1):c.13G>T (p.Ala5Ser)
|
rs121912444
|
|
NM_000454.5(SOD1):c.140A>G (p.His47Arg)
|
rs121912443
|
|
NM_000454.5(SOD1):c.143T>C (p.Val48Ala)
|
rs1568809169
|
|
NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup)
|
rs2123431926
|
|
NM_000454.5(SOD1):c.146A>G (p.His49Arg)
|
rs1568809172
|
|
NM_000454.5(SOD1):c.148G>A (p.Glu50Lys)
|
rs1568809178
|
|
NM_000454.5(SOD1):c.150G>A (p.Glu50=)
|
|
|
NM_000454.5(SOD1):c.15C>T (p.Ala5=)
|
|
|
NM_000454.5(SOD1):c.165A>G (p.Thr55=)
|
|
|
NM_000454.5(SOD1):c.169+52_169+58del
|
rs541000032
|
|
NM_000454.5(SOD1):c.16G>A (p.Val6Met)
|
|
|
NM_000454.5(SOD1):c.170-11C>T
|
|
|
NM_000454.5(SOD1):c.170-19TTC[2]
|
|
|
NM_000454.5(SOD1):c.179G>A (p.Ser60Asn)
|
|
|
NM_000454.5(SOD1):c.17T>C (p.Val6Ala)
|
rs2123427988
|
|
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
|
|
|
NM_000454.5(SOD1):c.19T>A (p.Cys7Ser)
|
rs1312702973
|
|
NM_000454.5(SOD1):c.19T>G (p.Cys7Gly)
|
rs1312702973
|
|
NM_000454.5(SOD1):c.205T>C (p.Ser69Pro)
|
rs2049594204
|
|
NM_000454.5(SOD1):c.208A>G (p.Arg70Gly)
|
rs1457291290
|
|
NM_000454.5(SOD1):c.20G>T (p.Cys7Phe)
|
rs121912448
|
|
NM_000454.5(SOD1):c.214C>T (p.His72Tyr)
|
rs2049594311
|
|
NM_000454.5(SOD1):c.216C>G (p.His72Gln)
|
rs368042695
|
|
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)
|
rs121912455
|
|
NM_000454.5(SOD1):c.220G>A (p.Gly74Arg)
|
rs1555836720
|
|
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr)
|
rs1601157750
|
|
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)
|
rs1568810316
|
|
NM_000454.5(SOD1):c.239+15A>T
|
|
|
NM_000454.5(SOD1):c.239+17C>G
|
rs2123434677
|
|
NM_000454.5(SOD1):c.240-14T>C
|
|
|
NM_000454.5(SOD1):c.240-15C>G
|
|
|
NM_000454.5(SOD1):c.240-3T>C
|
|
|
NM_000454.5(SOD1):c.240-6T>A
|
rs2123435321
|
|
NM_000454.5(SOD1):c.240-9_240-6del
|
|
|
NM_000454.5(SOD1):c.241C>T (p.His81Tyr)
|
|
|
NM_000454.5(SOD1):c.242A>G (p.His81Arg)
|
rs121912458
|
|
NM_000454.5(SOD1):c.253T>G (p.Leu85Val)
|
rs121912452
|
|
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe)
|
rs1315541036
|
|
NM_000454.5(SOD1):c.256G>A (p.Gly86Ser)
|
rs121912436
|
|
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg)
|
rs121912436
|
|
NM_000454.5(SOD1):c.25C>G (p.Leu9Val)
|
rs1568807333
|
|
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser)
|
rs11556620
|
|
NM_000454.5(SOD1):c.262G>A (p.Val88Met)
|
rs1568810641
|
|
NM_000454.5(SOD1):c.263T>C (p.Val88Ala)
|
rs1339283341
|
|
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr)
|
rs1568810660
|
|
NM_000454.5(SOD1):c.26T>A (p.Leu9Gln)
|
|
|
NM_000454.5(SOD1):c.272A>T (p.Asp91Val)
|
|
|
NM_000454.5(SOD1):c.278A>T (p.Asp93Val)
|
|
|
NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)
|
|
|
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)
|
rs121912437
|
|
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys)
|
rs121912437
|
|
NM_000454.5(SOD1):c.281G>A (p.Gly94Asp)
|
rs121912438
|
|
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala)
|
rs121912438
|
|
NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)
|
|
|
NM_000454.5(SOD1):c.287C>T (p.Ala96Val)
|
rs1568810690
|
|
NM_000454.5(SOD1):c.288C>T (p.Ala96=)
|
|
|
NM_000454.5(SOD1):c.290A>T (p.Asp97Val)
|
rs1555836803
|
|
NM_000454.5(SOD1):c.292G>C (p.Val98Leu)
|
|
|
NM_000454.5(SOD1):c.297T>C (p.Ser99=)
|
|
|
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys)
|
rs76731700
|
|
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)
|
rs121912439
|
|
NM_000454.5(SOD1):c.304G>A (p.Asp102Asn)
|
|
|
NM_000454.5(SOD1):c.304G>C (p.Asp102His)
|
rs1568810715
|
|
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu)
|
rs1378590183
|
|
NM_000454.5(SOD1):c.318A>T (p.Ser106=)
|
|
|
NM_000454.5(SOD1):c.319C>G (p.Leu107Val)
|
rs121912440
|
|
NM_000454.5(SOD1):c.319C>T (p.Leu107Phe)
|
rs121912440
|
|
NM_000454.5(SOD1):c.319_324del (p.Leu107_Ser108del)
|
rs2123435528
|
|
NM_000454.5(SOD1):c.321C>T (p.Leu107=)
|
|
|
NM_000454.5(SOD1):c.325G>C (p.Gly109Arg)
|
rs1568810758
|
|
NM_000454.5(SOD1):c.326_328del (p.Gly109del)
|
rs2123435554
|
|
NM_000454.5(SOD1):c.331C>T (p.His111Tyr)
|
rs2049603707
|
|
NM_000454.5(SOD1):c.335G>A (p.Cys112Tyr)
|
|
|
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr)
|
rs74315452
|
|
NM_000454.5(SOD1):c.342T>G (p.Ile114Met)
|
|
|
NM_000454.5(SOD1):c.344G>C (p.Gly115Ala)
|
|
|
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)
|
rs1301635320
|
|
NM_000454.5(SOD1):c.346C>T (p.Arg116Cys)
|
rs1301635320
|
|
NM_000454.5(SOD1):c.347G>A (p.Arg116His)
|
|
|
NM_000454.5(SOD1):c.34G>T (p.Asp12Tyr)
|
|
|
NM_000454.5(SOD1):c.351A>C (p.Thr117=)
|
|
|
NM_000454.5(SOD1):c.352C>G (p.Leu118Val)
|
rs199474723
|
|
NM_000454.5(SOD1):c.357+2dup
|
|
|
NM_000454.5(SOD1):c.358-17_358-15del
|
rs774491046
|
|
NM_000454.5(SOD1):c.358-304=
|
rs1555836889
|
|
NM_000454.5(SOD1):c.374A>G (p.Asp125Gly)
|
rs1568811366
|
|
NM_000454.5(SOD1):c.374A>T (p.Asp125Val)
|
rs1568811366
|
|
NM_000454.5(SOD1):c.376G>A (p.Asp126Asn)
|
rs1568811372
|
|
NM_000454.5(SOD1):c.376G>C (p.Asp126His)
|
|
|
NM_000454.5(SOD1):c.376G>T (p.Asp126Tyr)
|
|
|
NM_000454.5(SOD1):c.377A>C (p.Asp126Ala)
|
rs1164911383
|
|
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)
|
rs121912456
|
|
NM_000454.5(SOD1):c.380T>A (p.Leu127Ter)
|
rs121912454
|
|
NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)
|
|
|
NM_000454.5(SOD1):c.387A>G (p.Lys129=)
|
|
|
NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)
|
|
|
NM_000454.5(SOD1):c.396T>G (p.Asn132Lys)
|
rs1027128618
|
|
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del)
|
rs1568811423
|
|
NM_000454.5(SOD1):c.39C>T (p.Gly13=)
|
|
|
NM_000454.5(SOD1):c.400G>A (p.Glu134Lys)
|
rs2049618449
|
|
NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)
|
|
|
NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)
|
|
|
NM_000454.5(SOD1):c.401A>T (p.Glu134Val)
|
|
|
NM_000454.5(SOD1):c.404G>A (p.Ser135Asn)
|
rs121912451
|
|
NM_000454.5(SOD1):c.408A>G (p.Thr136=)
|
|
|
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala)
|
rs1568811445
|
|
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)
|
rs1568811454
|
|
NM_000454.5(SOD1):c.414A>G (p.Thr138=)
|
|
|
NM_000454.5(SOD1):c.416G>A (p.Gly139Glu)
|
rs1568811464
|
|
NM_000454.5(SOD1):c.416G>T (p.Gly139Val)
|
|
|
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys)
|
rs1804449
|
|
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly)
|
rs1555836937
|
|
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
|
|
|
NM_000454.5(SOD1):c.425G>T (p.Gly142Val)
|
|
|
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)
|
rs121912446
|
|
NM_000454.5(SOD1):c.435G>T (p.Leu145Phe)
|
rs1482760341
|
|
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr)
|
rs121912447
|
|
NM_000454.5(SOD1):c.437C>T (p.Ala146Val)
|
rs1131690781
|
|
NM_000454.5(SOD1):c.439T>C (p.Cys147Arg)
|
|
|
NM_000454.5(SOD1):c.43G>A (p.Val15Met)
|
rs1568807400
|
|
NM_000454.5(SOD1):c.43G>C (p.Val15Leu)
|
rs1568807400
|
|
NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)
|
|
|
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp)
|
rs1555836950
|
|
NM_000454.5(SOD1):c.444T>C (p.Gly148=)
|
|
|
NM_000454.5(SOD1):c.445G>A (p.Val149Ile)
|
|
|
NM_000454.5(SOD1):c.446T>G (p.Val149Gly)
|
rs1476760624
|
|
NM_000454.5(SOD1):c.449T>A (p.Ile150Asn)
|
rs1424014997
|
|
NM_000454.5(SOD1):c.44T>G (p.Val15Gly)
|
rs1202989817
|
|
NM_000454.5(SOD1):c.450T>C (p.Ile150=)
|
|
|
NM_000454.5(SOD1):c.450T>G (p.Ile150Met)
|
rs2123437030
|
|
NM_000454.5(SOD1):c.455T>C (p.Ile152Thr)
|
rs121912449
|
|
NM_000454.5(SOD1):c.455T>G (p.Ile152Ser)
|
rs121912449
|
|
NM_000454.5(SOD1):c.49G>A (p.Gly17Ser)
|
rs121912453
|
|
NM_000454.5(SOD1):c.49G>T (p.Gly17Cys)
|
rs121912453
|
|
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala)
|
rs1200906022
|
|
NM_000454.5(SOD1):c.55A>T (p.Ile19Phe)
|
|
|
NM_000454.5(SOD1):c.56T>C (p.Ile19Thr)
|
rs1601153438
|
|
NM_000454.5(SOD1):c.59A>T (p.Asn20Ile)
|
|
|
NM_000454.5(SOD1):c.60T>C (p.Asn20=)
|
|
|
NM_000454.5(SOD1):c.62T>G (p.Phe21Cys)
|
rs1555836169
|
|
NM_000454.5(SOD1):c.63C>G (p.Phe21Leu)
|
rs1555836170
|
|
NM_000454.5(SOD1):c.64G>A (p.Glu22Lys)
|
rs121912450
|
|
NM_000454.5(SOD1):c.68A>C (p.Gln23Pro)
|
|
|
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu)
|
rs1169198442
|
|
NM_000454.5(SOD1):c.69G>C (p.Gln23His)
|
rs1424217272
|
|
NM_000454.5(SOD1):c.72+20C>T
|
|
|
NM_000454.5(SOD1):c.75A>G (p.Glu25=)
|
rs2049569274
|
|
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del)
|
rs2049569360
|
|
NM_000454.5(SOD1):c.87A>G (p.Pro29=)
|
|
|
NM_000454.5(SOD1):c.93G>C (p.Lys31Asn)
|
rs2123431867
|
|
NM_000454.5(SOD1):c.95T>C (p.Val32Ala)
|
rs1428716759
|
|
NM_000454.5(SOD1):c.96G>A (p.Val32=)
|
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000743.5(CHRNA3):c.247_248insG (p.Thr83fs)
|
rs2053501632
|
|
NM_000743.5(CHRNA3):c.708_709insG (p.Ile237fs)
|
rs2053208751
|
|
NM_000743.5(CHRNA3):c.725del (p.Leu242fs)
|
rs2053207945
|
|
NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg)
|
rs1476174487
|
|
NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr)
|
rs201645533
|
|
NM_000750.5(CHRNB4):c.116G>T (p.Arg39Leu)
|
rs548549089
|
|
NM_001003722.2(GLE1):c.1465G>A (p.Glu489Lys)
|
rs1290402597
|
|
NM_001003722.2(GLE1):c.2078C>T (p.Ser693Phe)
|
rs1564162129
|
|
NM_001003800.2(BICD2):c.1002C>G (p.Ser334=)
|
rs1403546969
|
|
NM_001003800.2(BICD2):c.1006C>T (p.Leu336=)
|
rs1853434245
|
|
NM_001003800.2(BICD2):c.1008A>T (p.Leu336=)
|
rs950357888
|
|
NM_001003800.2(BICD2):c.1020C>T (p.Leu340=)
|
rs2131502090
|
|
NM_001003800.2(BICD2):c.1027T>G (p.Ser343Ala)
|
|
|
NM_001003800.2(BICD2):c.102C>T (p.Ala34=)
|
|
|
NM_001003800.2(BICD2):c.1041G>A (p.Lys347=)
|
|
|
NM_001003800.2(BICD2):c.1047G>A (p.Lys349=)
|
rs2131502064
|
|
NM_001003800.2(BICD2):c.1053G>T (p.Gln351His)
|
rs2131502057
|
|
NM_001003800.2(BICD2):c.1058T>C (p.Met353Thr)
|
|
|
NM_001003800.2(BICD2):c.1062+5G>A
|
|
|
NM_001003800.2(BICD2):c.1062G>T (p.Gln354His)
|
|
|
NM_001003800.2(BICD2):c.1063-10G>A
|
|
|
NM_001003800.2(BICD2):c.1063-7T>A
|
rs1853416488
|
|
NM_001003800.2(BICD2):c.1063A>G (p.Met355Val)
|
rs767226677
|
|
NM_001003800.2(BICD2):c.1063A>T (p.Met355Leu)
|
rs767226677
|
|
NM_001003800.2(BICD2):c.1070G>A (p.Arg357Gln)
|
|
|
NM_001003800.2(BICD2):c.1083C>A (p.Gly361=)
|
rs1324298551
|
|
NM_001003800.2(BICD2):c.1083C>G (p.Gly361=)
|
|
|
NM_001003800.2(BICD2):c.1094C>A (p.Thr365Lys)
|
|
|
NM_001003800.2(BICD2):c.1098G>A (p.Leu366=)
|
|
|
NM_001003800.2(BICD2):c.1098G>T (p.Leu366=)
|
rs1423882382
|
|
NM_001003800.2(BICD2):c.10_12dup (p.Pro4_Ser5insPro)
|
|
|
NM_001003800.2(BICD2):c.1107A>G (p.Thr369=)
|
rs1430715621
|
|
NM_001003800.2(BICD2):c.1108C>A (p.Gln370Lys)
|
|
|
NM_001003800.2(BICD2):c.1110G>C (p.Gln370His)
|
|
|
NM_001003800.2(BICD2):c.111G>A (p.Thr37=)
|
|
|
NM_001003800.2(BICD2):c.1120G>A (p.Glu374Lys)
|
|
|
NM_001003800.2(BICD2):c.1123C>G (p.His375Asp)
|
|
|
NM_001003800.2(BICD2):c.1132G>T (p.Gly378Cys)
|
|
|
NM_001003800.2(BICD2):c.1133G>C (p.Gly378Ala)
|
rs1440404997
|
|
NM_001003800.2(BICD2):c.1138C>T (p.Leu380=)
|
rs767146224
|
|
NM_001003800.2(BICD2):c.1152G>A (p.Gln384=)
|
|
|
NM_001003800.2(BICD2):c.1153G>A (p.Glu385Lys)
|
|
|
NM_001003800.2(BICD2):c.1168C>T (p.Leu390Phe)
|
rs192669216
|
|
NM_001003800.2(BICD2):c.1174G>A (p.Glu392Lys)
|
|
|
NM_001003800.2(BICD2):c.1185T>A (p.Ser395Arg)
|
|
|
NM_001003800.2(BICD2):c.1189C>G (p.Leu397Val)
|
rs1853411761
|
|
NM_001003800.2(BICD2):c.1193G>A (p.Arg398Gln)
|
|
|
NM_001003800.2(BICD2):c.11C>G (p.Pro4Arg)
|
|
|
NM_001003800.2(BICD2):c.1203G>A (p.Gln401=)
|
rs752209653
|
|
NM_001003800.2(BICD2):c.1204G>A (p.Ala402Thr)
|
|
|
NM_001003800.2(BICD2):c.1204_1221del (p.Ala402_Gln407del)
|
|
|
NM_001003800.2(BICD2):c.120G>A (p.Lys40=)
|
rs761445273
|
|
NM_001003800.2(BICD2):c.1217G>A (p.Arg406Gln)
|
|
|
NM_001003800.2(BICD2):c.1221G>A (p.Gln407=)
|
|
|
NM_001003800.2(BICD2):c.1230G>A (p.Leu410=)
|
|
|
NM_001003800.2(BICD2):c.1237G>A (p.Glu413Lys)
|
rs368361239
|
|
NM_001003800.2(BICD2):c.1246C>T (p.Arg416Cys)
|
rs1853409127
|
|
NM_001003800.2(BICD2):c.1251C>T (p.Asp417=)
|
|
|
NM_001003800.2(BICD2):c.1257T>G (p.His419Gln)
|
rs774663157
|
|
NM_001003800.2(BICD2):c.1262A>T (p.Asp421Val)
|
|
|
NM_001003800.2(BICD2):c.1265G>A (p.Gly422Glu)
|
rs2131501032
|
|
NM_001003800.2(BICD2):c.1273T>C (p.Tyr425His)
|
rs1853407945
|
|
NM_001003800.2(BICD2):c.1276G>A (p.Glu426Lys)
|
rs184465241
|
|
NM_001003800.2(BICD2):c.1290C>T (p.Asn430=)
|
|
|
NM_001003800.2(BICD2):c.1291G>A (p.Gly431Arg)
|
rs780600581
|
|
NM_001003800.2(BICD2):c.1295C>T (p.Pro432Leu)
|
|
|
NM_001003800.2(BICD2):c.1299G>A (p.Glu433=)
|
|
|
NM_001003800.2(BICD2):c.12G>A (p.Pro4=)
|
|
|
NM_001003800.2(BICD2):c.1308C>T (p.Ala436=)
|
|
|
NM_001003800.2(BICD2):c.1312A>C (p.Lys438Gln)
|
rs1587669231
|
|
NM_001003800.2(BICD2):c.1335G>A (p.Glu445=)
|
rs1853406194
|
|
NM_001003800.2(BICD2):c.1342G>A (p.Glu448Lys)
|
|
|
NM_001003800.2(BICD2):c.1350C>T (p.Arg450=)
|
|
|
NM_001003800.2(BICD2):c.1369C>A (p.Arg457Ser)
|
rs376220375
|
|
NM_001003800.2(BICD2):c.1372A>G (p.Ser458Gly)
|
rs1853404911
|
|
NM_001003800.2(BICD2):c.1375A>G (p.Thr459Ala)
|
|
|
NM_001003800.2(BICD2):c.1380C>T (p.His460=)
|
rs922441020
|
|
NM_001003800.2(BICD2):c.1392G>A (p.Glu464=)
|
rs952855123
|
|
NM_001003800.2(BICD2):c.1397A>G (p.Gln466Arg)
|
|
|
NM_001003800.2(BICD2):c.1400A>G (p.His467Arg)
|
rs1564060261
|
|
NM_001003800.2(BICD2):c.1402G>A (p.Ala468Thr)
|
|
|
NM_001003800.2(BICD2):c.1405G>A (p.Glu469Lys)
|
|
|
NM_001003800.2(BICD2):c.1414G>A (p.Gly472Ser)
|
rs1853403012
|
|
NM_001003800.2(BICD2):c.141G>A (p.Gly47=)
|
|
|
NM_001003800.2(BICD2):c.1428T>G (p.Ala476=)
|
|
|
NM_001003800.2(BICD2):c.1429G>C (p.Glu477Gln)
|
rs372840233
|
|
NM_001003800.2(BICD2):c.1432G>A (p.Gly478Ser)
|
|
|
NM_001003800.2(BICD2):c.1443C>A (p.Leu481=)
|
rs550844711
|
|
NM_001003800.2(BICD2):c.1451A>C (p.Lys484Thr)
|
rs2131500709
|
|
NM_001003800.2(BICD2):c.1458C>T (p.Ser486=)
|
rs1853400904
|
|
NM_001003800.2(BICD2):c.1462C>T (p.Leu488=)
|
rs1404238241
|
|
NM_001003800.2(BICD2):c.1463T>C (p.Leu488Pro)
|
rs1587668983
|
|
NM_001003800.2(BICD2):c.1467G>A (p.Glu489=)
|
|
|
NM_001003800.2(BICD2):c.1473C>T (p.Ala491=)
|
|
|
NM_001003800.2(BICD2):c.1478G>A (p.Arg493His)
|
|
|
NM_001003800.2(BICD2):c.1478_1479delinsTT (p.Arg493Leu)
|
rs1587668960
|
|
NM_001003800.2(BICD2):c.1482G>A (p.Gln494=)
|
|
|
NM_001003800.2(BICD2):c.1486C>T (p.Arg496Cys)
|
rs1457844438
|
|
NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)
|
|
|
NM_001003800.2(BICD2):c.1501C>G (p.Arg501Gly)
|
|
|
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro)
|
rs398123032
|
|
NM_001003800.2(BICD2):c.1503G>A (p.Arg501=)
|
rs1554705508
|
|
NM_001003800.2(BICD2):c.1503G>T (p.Arg501=)
|
rs1554705508
|
|
NM_001003800.2(BICD2):c.1506G>A (p.Leu502=)
|
|
|
NM_001003800.2(BICD2):c.150G>C (p.Val50=)
|
rs186133837
|
|
NM_001003800.2(BICD2):c.1510_1512del (p.Lys504del)
|
rs1554705506
|
|
NM_001003800.2(BICD2):c.1512G>A (p.Lys504=)
|
|
|
NM_001003800.2(BICD2):c.1517T>C (p.Leu506Pro)
|
|
|
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)
|
rs398123031
|
|
NM_001003800.2(BICD2):c.1530C>T (p.Ser510=)
|
|
|
NM_001003800.2(BICD2):c.1533C>A (p.Asp511Glu)
|
|
|
NM_001003800.2(BICD2):c.1536C>T (p.Val512=)
|
|
|
NM_001003800.2(BICD2):c.153C>A (p.Leu51=)
|
rs1307832803
|
|
NM_001003800.2(BICD2):c.1541G>T (p.Gly514Val)
|
|
|
NM_001003800.2(BICD2):c.1543G>A (p.Glu515Lys)
|
rs1587668852
|
|
NM_001003800.2(BICD2):c.1551G>A (p.Gln517=)
|
rs773975705
|
|
NM_001003800.2(BICD2):c.1552G>C (p.Gly518Arg)
|
|
|
NM_001003800.2(BICD2):c.1561A>G (p.Ser521Gly)
|
rs1286725301
|
|
NM_001003800.2(BICD2):c.1563T>C (p.Ser521=)
|
rs2131500516
|
|
NM_001003800.2(BICD2):c.1564G>A (p.Val522Met)
|
rs1853397128
|
|
NM_001003800.2(BICD2):c.1569C>T (p.Ala523=)
|
rs1587668828
|
|
NM_001003800.2(BICD2):c.1579C>G (p.Leu527Val)
|
|
|
NM_001003800.2(BICD2):c.1582G>A (p.Val528Met)
|
rs908773556
|
|
NM_001003800.2(BICD2):c.1582G>T (p.Val528Leu)
|
rs908773556
|
|
NM_001003800.2(BICD2):c.1584G>T (p.Val528=)
|
|
|
NM_001003800.2(BICD2):c.1592G>T (p.Ser531Ile)
|
rs1287163670
|
|
NM_001003800.2(BICD2):c.1604C>T (p.Ala535Val)
|
rs1587668798
|
|
NM_001003800.2(BICD2):c.1607A>G (p.Asn536Ser)
|
|
|
NM_001003800.2(BICD2):c.1617C>G (p.His539Gln)
|
|
|
NM_001003800.2(BICD2):c.1617C>T (p.His539=)
|
|
|
NM_001003800.2(BICD2):c.1618C>G (p.His540Asp)
|
rs1564060049
|
|
NM_001003800.2(BICD2):c.1627A>T (p.Met543Leu)
|
|
|
NM_001003800.2(BICD2):c.1631G>A (p.Cys544Tyr)
|
rs1853395351
|
|
NM_001003800.2(BICD2):c.1633A>G (p.Asn545Asp)
|
rs1587668769
|
|
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)
|
rs1064795760
|
|
NM_001003800.2(BICD2):c.1637A>G (p.Asn546Ser)
|
rs1370503586
|
|
NM_001003800.2(BICD2):c.163C>G (p.His55Asp)
|
rs1854442288
|
|
NM_001003800.2(BICD2):c.1652G>A (p.Arg551His)
|
|
|
NM_001003800.2(BICD2):c.1655T>C (p.Val552Ala)
|
|
|
NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser)
|
rs1587668748
|
|
NM_001003800.2(BICD2):c.1667A>G (p.Tyr556Cys)
|
rs1587668748
|
|
NM_001003800.2(BICD2):c.1672C>T (p.Arg558Cys)
|
rs1351684855
|
|
NM_001003800.2(BICD2):c.1673G>C (p.Arg558Pro)
|
rs1263279945
|
|
NM_001003800.2(BICD2):c.1673G>T (p.Arg558Leu)
|
|
|
NM_001003800.2(BICD2):c.1674C>A (p.Arg558=)
|
rs35535468
|
|
NM_001003800.2(BICD2):c.1674C>T (p.Arg558=)
|
rs35535468
|
|
NM_001003800.2(BICD2):c.1675_1698del (p.Glu559_Arg566del)
|
|
|
NM_001003800.2(BICD2):c.1679G>A (p.Gly560Asp)
|
|
|
NM_001003800.2(BICD2):c.1688G>A (p.Gly563Glu)
|
|
|
NM_001003800.2(BICD2):c.16GAG[3] (p.Glu9del)
|
rs751269137
|
|
NM_001003800.2(BICD2):c.16GAG[5] (p.Glu9_Tyr10insGlu)
|
|
|
NM_001003800.2(BICD2):c.1703G>C (p.Ser568Thr)
|
|
|
NM_001003800.2(BICD2):c.1704_1721del (p.Gly570_Pro575del)
|
|
|
NM_001003800.2(BICD2):c.1704_1721dup (p.Gly570_Pro575dup)
|
rs998616675
|
|
NM_001003800.2(BICD2):c.1709_1726del (p.Gly570_Pro575del)
|
rs1333312158
|
|
NM_001003800.2(BICD2):c.1711G>A (p.Gly571Ser)
|
|
|
NM_001003800.2(BICD2):c.1712G>T (p.Gly571Val)
|
|
|
NM_001003800.2(BICD2):c.1718C>G (p.Thr573Ser)
|
|
|
NM_001003800.2(BICD2):c.1719C>A (p.Thr573=)
|
rs1587668638
|
|
NM_001003800.2(BICD2):c.1724C>A (p.Pro575His)
|
|
|
NM_001003800.2(BICD2):c.1725C>T (p.Pro575=)
|
rs201343832
|
|
NM_001003800.2(BICD2):c.1730C>T (p.Ala577Val)
|
|
|
NM_001003800.2(BICD2):c.1731G>A (p.Ala577=)
|
|
|
NM_001003800.2(BICD2):c.1732C>G (p.Arg578Gly)
|
|
|
NM_001003800.2(BICD2):c.1732C>T (p.Arg578Cys)
|
|
|
NM_001003800.2(BICD2):c.1732del (p.Arg578fs)
|
rs1554705455
|
|
NM_001003800.2(BICD2):c.1736G>A (p.Gly579Asp)
|
|
|
NM_001003800.2(BICD2):c.1739G>A (p.Arg580Gln)
|
rs775229197
|
|
NM_001003800.2(BICD2):c.1758A>G (p.Leu586=)
|
rs540475126
|
|
NM_001003800.2(BICD2):c.1766G>A (p.Gly589Glu)
|
|
|
NM_001003800.2(BICD2):c.1784C>T (p.Ala595Val)
|
|
|
NM_001003800.2(BICD2):c.1787G>T (p.Gly596Val)
|
rs1377173037
|
|
NM_001003800.2(BICD2):c.1798G>T (p.Gly600Cys)
|
|
|
NM_001003800.2(BICD2):c.1801G>T (p.Gly601Trp)
|
rs2131500027
|
|
NM_001003800.2(BICD2):c.1817G>A (p.Ser606Asn)
|
rs897077465
|
|
NM_001003800.2(BICD2):c.181T>C (p.Phe61Leu)
|
|
|
NM_001003800.2(BICD2):c.1824G>C (p.Ser608=)
|
|
|
NM_001003800.2(BICD2):c.1849C>G (p.Leu617Val)
|
rs990859311
|
|
NM_001003800.2(BICD2):c.1858C>A (p.Pro620Thr)
|
|
|
NM_001003800.2(BICD2):c.1862G>A (p.Arg621His)
|
|
|
NM_001003800.2(BICD2):c.1865G>A (p.Arg622Gln)
|
|
|
NM_001003800.2(BICD2):c.1883A>G (p.Tyr628Cys)
|
rs1853383567
|
|
NM_001003800.2(BICD2):c.1897A>G (p.Ile633Val)
|
|
|
NM_001003800.2(BICD2):c.18G>A (p.Glu6=)
|
rs2131542789
|
|
NM_001003800.2(BICD2):c.1903C>G (p.Arg635Gly)
|
|
|
NM_001003800.2(BICD2):c.1904G>A (p.Arg635His)
|
|
|
NM_001003800.2(BICD2):c.1914C>G (p.Ile638Met)
|
|
|
NM_001003800.2(BICD2):c.1922T>A (p.Leu641Gln)
|
|
|
NM_001003800.2(BICD2):c.1922T>C (p.Leu641Pro)
|
rs1554705383
|
|
NM_001003800.2(BICD2):c.1922T>G (p.Leu641Arg)
|
|
|
NM_001003800.2(BICD2):c.1928C>T (p.Ala643Val)
|
|
|
NM_001003800.2(BICD2):c.192C>T (p.Leu64=)
|
|
|
NM_001003800.2(BICD2):c.1931C>A (p.Ala644Asp)
|
rs1564059605
|
|
NM_001003800.2(BICD2):c.1957C>T (p.Arg653Cys)
|
|
|
NM_001003800.2(BICD2):c.1958G>A (p.Arg653His)
|
|
|
NM_001003800.2(BICD2):c.1959C>G (p.Arg653=)
|
|
|
NM_001003800.2(BICD2):c.1964G>T (p.Arg655Leu)
|
|
|
NM_001003800.2(BICD2):c.1978G>A (p.Glu660Lys)
|
rs1853379869
|
|
NM_001003800.2(BICD2):c.1993G>A (p.Val665Met)
|
|
|
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885
|
|
NM_001003800.2(BICD2):c.1997A>C (p.Asp666Ala)
|
rs1587668190
|
|
NM_001003800.2(BICD2):c.1A>C (p.Met1Leu)
|
rs2131542823
|
|
NM_001003800.2(BICD2):c.2004C>T (p.Asp668=)
|
|
|
NM_001003800.2(BICD2):c.2017A>G (p.Met673Val)
|
|
|
NM_001003800.2(BICD2):c.2021A>G (p.Glu674Gly)
|
|
|
NM_001003800.2(BICD2):c.2036T>G (p.Leu679Arg)
|
rs2131499599
|
|
NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu)
|
rs1853375829
|
|
NM_001003800.2(BICD2):c.2057A>T (p.Lys686Met)
|
rs1587668129
|
|
NM_001003800.2(BICD2):c.2058G>A (p.Lys686=)
|
|
|
NM_001003800.2(BICD2):c.2058G>C (p.Lys686Asn)
|
|
|
NM_001003800.2(BICD2):c.2058G>T (p.Lys686Asn)
|
rs376312313
|
|
NM_001003800.2(BICD2):c.2064G>A (p.Glu688=)
|
rs1198718448
|
|
NM_001003800.2(BICD2):c.2065C>G (p.Gln689Glu)
|
|
|
NM_001003800.2(BICD2):c.2066A>G (p.Gln689Arg)
|
rs1554705339
|
|
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)
|
rs797045412
|
|
NM_001003800.2(BICD2):c.2086G>C (p.Val696Leu)
|
|
|
NM_001003800.2(BICD2):c.2091C>T (p.Leu697=)
|
|
|
NM_001003800.2(BICD2):c.2105A>G (p.Gln702Arg)
|
rs1587668077
|
|
NM_001003800.2(BICD2):c.2106+11A>C
|
|
|
NM_001003800.2(BICD2):c.2106+13G>A
|
|
|
NM_001003800.2(BICD2):c.2106+14C>T
|
|
|
NM_001003800.2(BICD2):c.2106+6G>C
|
rs201184890
|
|
NM_001003800.2(BICD2):c.2106+8G>A
|
rs1587668064
|
|
NM_001003800.2(BICD2):c.2107-15A>G
|
|
|
NM_001003800.2(BICD2):c.2107-3C>T
|
|
|
NM_001003800.2(BICD2):c.2107-7C>G
|
|
|
NM_001003800.2(BICD2):c.2109G>A (p.Thr703=)
|
|
|
NM_001003800.2(BICD2):c.212T>C (p.Ile71Thr)
|
rs2131542548
|
|
NM_001003800.2(BICD2):c.2132T>C (p.Leu711Pro)
|
|
|
NM_001003800.2(BICD2):c.2158G>A (p.Ala720Thr)
|
|
|
NM_001003800.2(BICD2):c.2161A>G (p.Met721Val)
|
|
|
NM_001003800.2(BICD2):c.2170G>A (p.Glu724Lys)
|
|
|
NM_001003800.2(BICD2):c.2173A>T (p.Thr725Ser)
|
rs2131498763
|
|
NM_001003800.2(BICD2):c.2175C>G (p.Thr725=)
|
|
|
NM_001003800.2(BICD2):c.2181G>T (p.Met727Ile)
|
|
|
NM_001003800.2(BICD2):c.2184G>A (p.Lys728=)
|
rs771619173
|
|
NM_001003800.2(BICD2):c.2189G>T (p.Arg730Leu)
|
rs943974428
|
|
NM_001003800.2(BICD2):c.2200_2202del (p.Lys734del)
|
rs1853349816
|
|
NM_001003800.2(BICD2):c.2209A>G (p.Lys737Glu)
|
rs2131498684
|
|
NM_001003800.2(BICD2):c.2209_2211del (p.Lys737del)
|
rs2131498680
|
|
NM_001003800.2(BICD2):c.2219C>T (p.Ala740Val)
|
|
|
NM_001003800.2(BICD2):c.2224_2226dup (p.Thr742dup)
|
rs1554705227
|
|
NM_001003800.2(BICD2):c.2227_2228delinsAC (p.Phe743Thr)
|
rs1853349102
|
|
NM_001003800.2(BICD2):c.2229C>T (p.Phe743=)
|
|
|
NM_001003800.2(BICD2):c.2234C>T (p.Ser745Leu)
|
|
|
NM_001003800.2(BICD2):c.2235G>T (p.Ser745=)
|
|
|
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)
|
rs1587667544
|
|
NM_001003800.2(BICD2):c.2240G>T (p.Arg747Leu)
|
|
|
NM_001003800.2(BICD2):c.224T>C (p.Met75Thr)
|
|
|
NM_001003800.2(BICD2):c.2258+14T>C
|
|
|
NM_001003800.2(BICD2):c.2258+17C>G
|
|
|
NM_001003800.2(BICD2):c.2258+17C>T
|
rs554612134
|
|
NM_001003800.2(BICD2):c.2258+18G>A
|
rs376177099
|
|
NM_001003800.2(BICD2):c.2258+757_2305del
|
|
|
NM_001003800.2(BICD2):c.2258+7G>A
|
|
|
NM_001003800.2(BICD2):c.2259-3C>T
|
|
|
NM_001003800.2(BICD2):c.225G>T (p.Met75Ile)
|
rs1854440556
|
|
NM_001003800.2(BICD2):c.2285A>T (p.Asp762Val)
|
rs1853288605
|
|
NM_001003800.2(BICD2):c.2294A>G (p.Gln765Arg)
|
rs1853288308
|
|
NM_001003800.2(BICD2):c.2297G>A (p.Arg766Gln)
|
rs1216459221
|
|
NM_001003800.2(BICD2):c.2301G>A (p.Gln767=)
|
rs1357621526
|
|
NM_001003800.2(BICD2):c.2313T>A (p.Ala771=)
|
|
|
NM_001003800.2(BICD2):c.2314G>A (p.Glu772Lys)
|
|
|
NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys)
|
rs1131691347
|
|
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly)
|
rs398123030
|
|
NM_001003800.2(BICD2):c.2327A>C (p.Lys776Thr)
|
rs2131496327
|
|
NM_001003800.2(BICD2):c.2329A>G (p.Thr777Ala)
|
rs1587666004
|
|
NM_001003800.2(BICD2):c.2340G>T (p.Ser780=)
|
|
|
NM_001003800.2(BICD2):c.2355C>T (p.Ala785=)
|
|
|
NM_001003800.2(BICD2):c.2358C>A (p.Ile786=)
|
rs2131496275
|
|
NM_001003800.2(BICD2):c.2364G>A (p.Gln788=)
|
|
|
NM_001003800.2(BICD2):c.2368C>T (p.Leu790=)
|
|
|
NM_001003800.2(BICD2):c.2370G>A (p.Leu790=)
|
|
|
NM_001003800.2(BICD2):c.2383C>T (p.Arg795Trp)
|
rs756421767
|
|
NM_001003800.2(BICD2):c.238G>T (p.Glu80Ter)
|
|
|
NM_001003800.2(BICD2):c.2397C>G (p.Leu799=)
|
|
|
NM_001003800.2(BICD2):c.2398G>C (p.Glu800Gln)
|
|
|
NM_001003800.2(BICD2):c.240+11C>T
|
|
|
NM_001003800.2(BICD2):c.240+14C>T
|
|
|
NM_001003800.2(BICD2):c.240+8G>A
|
|
|
NM_001003800.2(BICD2):c.241-12C>T
|
|
|
NM_001003800.2(BICD2):c.241-4G>A
|
rs1400871977
|
|
NM_001003800.2(BICD2):c.2412G>A (p.Glu804=)
|
|
|
NM_001003800.2(BICD2):c.241G>C (p.Ala81Pro)
|
|
|
NM_001003800.2(BICD2):c.2420G>A (p.Arg807Gln)
|
rs1564057942
|
|
NM_001003800.2(BICD2):c.2422C>T (p.Arg808Cys)
|
rs143189118
|
|
NM_001003800.2(BICD2):c.2431G>A (p.Ala811Thr)
|
|
|
NM_001003800.2(BICD2):c.2439C>T (p.Ala813=)
|
|
|
NM_001003800.2(BICD2):c.2440G>A (p.Ala814Thr)
|
|
|
NM_001003800.2(BICD2):c.2444C>T (p.Pro815Leu)
|
|
|
NM_001003800.2(BICD2):c.2470G>C (p.Val824Leu)
|
rs774445661
|
|
NM_001003800.2(BICD2):c.247G>A (p.Gly83Arg)
|
rs1587675774
|
|
NM_001003800.2(BICD2):c.2481C>G (p.Thr827=)
|
|
|
NM_001003800.2(BICD2):c.2485G>A (p.Ala829Thr)
|
rs1853278571
|
|
NM_001003800.2(BICD2):c.2493C>T (p.Ala831=)
|
|
|
NM_001003800.2(BICD2):c.2496C>T (p.Ser832=)
|
|
|
NM_001003800.2(BICD2):c.2497G>A (p.Asp833Asn)
|
|
|
NM_001003800.2(BICD2):c.2510G>T (p.Gly837Val)
|
|
|
NM_001003800.2(BICD2):c.2527C>G (p.Gln843Glu)
|
|
|
NM_001003800.2(BICD2):c.2527C>T (p.Gln843Ter)
|
|
|
NM_001003800.2(BICD2):c.253G>A (p.Ala85Thr)
|
|
|
NM_001003800.2(BICD2):c.2545A>C (p.Lys849Gln)
|
rs1412613776
|
|
NM_001003800.2(BICD2):c.2547G>T (p.Lys849Asn)
|
|
|
NM_001003800.2(BICD2):c.2559C>T (p.Tyr853=)
|
|
|
NM_001003800.2(BICD2):c.2563G>A (p.Asp855Asn)
|
|
|
NM_001003800.2(BICD2):c.258C>T (p.His86=)
|
rs771744154
|
|
NM_001003800.2(BICD2):c.260C>G (p.Thr87Arg)
|
|
|
NM_001003800.2(BICD2):c.27G>C (p.Glu9Asp)
|
rs2131542772
|
|
NM_001003800.2(BICD2):c.291G>A (p.Glu97=)
|
|
|
NM_001003800.2(BICD2):c.301G>A (p.Glu101Lys)
|
rs1554706635
|
|
NM_001003800.2(BICD2):c.305G>T (p.Ser102Ile)
|
rs1853629682
|
|
NM_001003800.2(BICD2):c.307C>T (p.Leu103=)
|
rs1554706634
|
|
NM_001003800.2(BICD2):c.30C>T (p.Tyr10=)
|
|
|
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)
|
rs398123028
|
|
NM_001003800.2(BICD2):c.327C>T (p.Ser109=)
|
rs372097396
|
|
NM_001003800.2(BICD2):c.334C>G (p.Gln112Glu)
|
|
|
NM_001003800.2(BICD2):c.342C>T (p.Tyr114=)
|
|
|
NM_001003800.2(BICD2):c.346C>G (p.Arg116Gly)
|
|
|
NM_001003800.2(BICD2):c.35_52dup (p.Ala17_Gln18insArgLeuValMetGluAla)
|
|
|
NM_001003800.2(BICD2):c.368_369delinsTT (p.Thr123Ile)
|
|
|
NM_001003800.2(BICD2):c.36G>C (p.Arg12=)
|
|
|
NM_001003800.2(BICD2):c.380A>G (p.Gln127Arg)
|
|
|
NM_001003800.2(BICD2):c.386G>A (p.Arg129His)
|
rs780485203
|
|
NM_001003800.2(BICD2):c.38T>G (p.Leu13Arg)
|
rs1340902320
|
|
NM_001003800.2(BICD2):c.393C>A (p.Val131=)
|
|
|
NM_001003800.2(BICD2):c.396C>T (p.Leu132=)
|
|
|
NM_001003800.2(BICD2):c.398C>T (p.Thr133Ile)
|
|
|
NM_001003800.2(BICD2):c.39G>A (p.Leu13=)
|
|
|
NM_001003800.2(BICD2):c.421C>T (p.Arg141Cys)
|
|
|
NM_001003800.2(BICD2):c.422G>A (p.Arg141His)
|
|
|
NM_001003800.2(BICD2):c.422G>T (p.Arg141Leu)
|
|
|
NM_001003800.2(BICD2):c.453+13G>A
|
rs773913737
|
|
NM_001003800.2(BICD2):c.453+17G>A
|
|
|
NM_001003800.2(BICD2):c.453+20C>T
|
|
|
NM_001003800.2(BICD2):c.453+8G>T
|
rs1180069016
|
|
NM_001003800.2(BICD2):c.453+9G>A
|
|
|
NM_001003800.2(BICD2):c.453+9G>T
|
rs202189685
|
|
NM_001003800.2(BICD2):c.454-10C>T
|
|
|
NM_001003800.2(BICD2):c.454-5A>G
|
rs1554706060
|
|
NM_001003800.2(BICD2):c.454-6C>T
|
|
|
NM_001003800.2(BICD2):c.454-9C>A
|
|
|
NM_001003800.2(BICD2):c.454A>T (p.Ile152Phe)
|
rs1853491424
|
|
NM_001003800.2(BICD2):c.458A>T (p.Asn153Ile)
|
rs2131504307
|
|
NM_001003800.2(BICD2):c.464A>G (p.Asn155Ser)
|
rs1853491158
|
|
NM_001003800.2(BICD2):c.466G>A (p.Val156Met)
|
|
|
NM_001003800.2(BICD2):c.479G>A (p.Arg160His)
|
|
|
NM_001003800.2(BICD2):c.479G>T (p.Arg160Leu)
|
|
|
NM_001003800.2(BICD2):c.501C>A (p.Ile167=)
|
|
|
NM_001003800.2(BICD2):c.503A>C (p.Lys168Thr)
|
|
|
NM_001003800.2(BICD2):c.50C>A (p.Ala17Glu)
|
|
|
NM_001003800.2(BICD2):c.513A>G (p.Lys171=)
|
rs1587671742
|
|
NM_001003800.2(BICD2):c.516C>T (p.Phe172=)
|
|
|
NM_001003800.2(BICD2):c.527G>A (p.Arg176His)
|
rs1207286970
|
|
NM_001003800.2(BICD2):c.535C>T (p.Gln179Ter)
|
|
|
NM_001003800.2(BICD2):c.538G>A (p.Asp180Asn)
|
|
|
NM_001003800.2(BICD2):c.545C>T (p.Ser182Leu)
|
|
|
NM_001003800.2(BICD2):c.546G>C (p.Ser182=)
|
|
|
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr)
|
rs398123029
|
|
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe)
|
rs1587671674
|
|
NM_001003800.2(BICD2):c.567C>G (p.Ile189Met)
|
rs2131504104
|
|
NM_001003800.2(BICD2):c.56C>T (p.Pro19Leu)
|
|
|
NM_001003800.2(BICD2):c.578A>C (p.Lys193Thr)
|
|
|
NM_001003800.2(BICD2):c.581A>G (p.Gln194Arg)
|
rs1564061982
|
|
NM_001003800.2(BICD2):c.587C>T (p.Ser196Phe)
|
rs1853487156
|
|
NM_001003800.2(BICD2):c.58G>C (p.Glu20Gln)
|
rs780000539
|
|
NM_001003800.2(BICD2):c.597A>G (p.Arg199=)
|
|
|
NM_001003800.2(BICD2):c.598C>G (p.Gln200Glu)
|
|
|
NM_001003800.2(BICD2):c.59A>G (p.Glu20Gly)
|
|
|
NM_001003800.2(BICD2):c.606+18G>T
|
rs764986592
|
|
NM_001003800.2(BICD2):c.607-15G>T
|
|
|
NM_001003800.2(BICD2):c.607-18G>A
|
|
|
NM_001003800.2(BICD2):c.607-18G>C
|
rs370358019
|
|
NM_001003800.2(BICD2):c.607-19C>T
|
|
|
NM_001003800.2(BICD2):c.607-8C>T
|
|
|
NM_001003800.2(BICD2):c.619G>A (p.Gly207Ser)
|
|
|
NM_001003800.2(BICD2):c.623T>C (p.Leu208Pro)
|
rs1853448827
|
|
NM_001003800.2(BICD2):c.629A>C (p.His210Pro)
|
|
|
NM_001003800.2(BICD2):c.645G>A (p.Leu215=)
|
rs2131502716
|
|
NM_001003800.2(BICD2):c.64C>G (p.Leu22Val)
|
rs758212511
|
|
NM_001003800.2(BICD2):c.651G>A (p.Glu217=)
|
|
|
NM_001003800.2(BICD2):c.656C>G (p.Thr219Ser)
|
rs370390769
|
|
NM_001003800.2(BICD2):c.681G>T (p.Glu227Asp)
|
|
|
NM_001003800.2(BICD2):c.684T>A (p.Asp228Glu)
|
|
|
NM_001003800.2(BICD2):c.69C>T (p.Arg23=)
|
|
|
NM_001003800.2(BICD2):c.6G>C (p.Ser2=)
|
rs2131542810
|
|
NM_001003800.2(BICD2):c.703A>C (p.Ile235Leu)
|
rs1587670538
|
|
NM_001003800.2(BICD2):c.705C>G (p.Ile235Met)
|
rs1183367895
|
|
NM_001003800.2(BICD2):c.710A>G (p.Glu237Gly)
|
rs2131502641
|
|
NM_001003800.2(BICD2):c.714G>A (p.Arg238=)
|
|
|
NM_001003800.2(BICD2):c.717G>C (p.Gln239His)
|
|
|
NM_001003800.2(BICD2):c.725A>G (p.Glu242Gly)
|
rs369298186
|
|
NM_001003800.2(BICD2):c.729G>T (p.Ala243=)
|
|
|
NM_001003800.2(BICD2):c.72C>T (p.Ala24=)
|
|
|
NM_001003800.2(BICD2):c.735G>C (p.Glu245Asp)
|
rs2131502587
|
|
NM_001003800.2(BICD2):c.739C>A (p.Leu247Met)
|
|
|
NM_001003800.2(BICD2):c.759G>A (p.Gln253=)
|
|
|
NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg)
|
rs1367809298
|
|
NM_001003800.2(BICD2):c.766del (p.Ser256fs)
|
|
|
NM_001003800.2(BICD2):c.778G>T (p.Glu260Ter)
|
rs1445458188
|
|
NM_001003800.2(BICD2):c.786A>G (p.Ser262=)
|
|
|
NM_001003800.2(BICD2):c.791A>G (p.Tyr264Cys)
|
|
|
NM_001003800.2(BICD2):c.793A>C (p.Met265Leu)
|
rs779331320
|
|
NM_001003800.2(BICD2):c.809C>T (p.Ser270Phe)
|
rs375710311
|
|
NM_001003800.2(BICD2):c.812_814del (p.Phe271del)
|
|
|
NM_001003800.2(BICD2):c.819C>T (p.Thr273=)
|
rs1587670357
|
|
NM_001003800.2(BICD2):c.823C>T (p.His275Tyr)
|
|
|
NM_001003800.2(BICD2):c.82C>T (p.Arg28Trp)
|
|
|
NM_001003800.2(BICD2):c.833T>C (p.Val278Ala)
|
rs1853441867
|
|
NM_001003800.2(BICD2):c.84G>A (p.Arg28=)
|
|
|
NM_001003800.2(BICD2):c.85C>G (p.Leu29Val)
|
|
|
NM_001003800.2(BICD2):c.862G>A (p.Asp288Asn)
|
|
|
NM_001003800.2(BICD2):c.864T>A (p.Asp288Glu)
|
|
|
NM_001003800.2(BICD2):c.868G>A (p.Ala290Thr)
|
|
|
NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys)
|
rs1271142551
|
|
NM_001003800.2(BICD2):c.873G>A (p.Glu291=)
|
|
|
NM_001003800.2(BICD2):c.876C>G (p.Pro292=)
|
rs1564061112
|
|
NM_001003800.2(BICD2):c.877AAC[1] (p.Asn294del)
|
|
|
NM_001003800.2(BICD2):c.881A>T (p.Asn294Ile)
|
|
|
NM_001003800.2(BICD2):c.882C>T (p.Asn294=)
|
|
|
NM_001003800.2(BICD2):c.888C>T (p.Ala296=)
|
|
|
NM_001003800.2(BICD2):c.897G>A (p.Leu299=)
|
|
|
NM_001003800.2(BICD2):c.89C>G (p.Ser30Cys)
|
rs1271773744
|
|
NM_001003800.2(BICD2):c.8C>T (p.Ala3Val)
|
|
|
NM_001003800.2(BICD2):c.902A>G (p.Asn301Ser)
|
rs2131502289
|
|
NM_001003800.2(BICD2):c.903T>C (p.Asn301=)
|
rs1853438934
|
|
NM_001003800.2(BICD2):c.90C>T (p.Ser30=)
|
rs1417077198
|
|
NM_001003800.2(BICD2):c.911A>G (p.Glu304Gly)
|
|
|
NM_001003800.2(BICD2):c.913C>T (p.His305Tyr)
|
|
|
NM_001003800.2(BICD2):c.914A>G (p.His305Arg)
|
rs1480204082
|
|
NM_001003800.2(BICD2):c.919G>A (p.Gly307Ser)
|
|
|
NM_001003800.2(BICD2):c.91C>T (p.His31Tyr)
|
rs1554709923
|
|
NM_001003800.2(BICD2):c.922C>T (p.Leu308=)
|
rs2131502256
|
|
NM_001003800.2(BICD2):c.945C>T (p.Asn315=)
|
rs1406227956
|
|
NM_001003800.2(BICD2):c.94G>C (p.Glu32Gln)
|
rs1564076641
|
|
NM_001003800.2(BICD2):c.953C>T (p.Ser318Phe)
|
|
|
NM_001003800.2(BICD2):c.961AAG[1] (p.Lys322del)
|
|
|
NM_001003800.2(BICD2):c.976G>C (p.Ala326Pro)
|
|
|
NM_001003800.2(BICD2):c.976G>T (p.Ala326Ser)
|
rs571839806
|
|
NM_001003800.2(BICD2):c.989C>A (p.Pro330His)
|
rs1564060970
|
|
NM_001003800.2(BICD2):c.989C>G (p.Pro330Arg)
|
|
|
NM_001003800.2(BICD2):c.990C>A (p.Pro330=)
|
|
|
NM_001003800.2(BICD2):c.990C>G (p.Pro330=)
|
rs371444272
|
|
NM_001003800.2(BICD2):c.990C>T (p.Pro330=)
|
|
|
NM_001003800.2(BICD2):c.996C>G (p.Leu332=)
|
|
|
NM_001003800.2(BICD2):c.996C>T (p.Leu332=)
|
|
|
NM_001003800.2(BICD2):c.9G>A (p.Ala3=)
|
rs2131542805
|
|
NM_001008212.2(OPTN):c.*1042T>G
|
rs886046827
|
|
NM_001008212.2(OPTN):c.*386C>A
|
rs745564491
|
|
NM_001008212.2(OPTN):c.*631A>G
|
rs1833724733
|
|
NM_001008212.2(OPTN):c.*938C>G
|
rs886046826
|
|
NM_001008212.2(OPTN):c.-164+13A>G
|
rs556917167
|
|
NM_001008212.2(OPTN):c.-184C>G
|
rs955585590
|
|
NM_001008212.2(OPTN):c.-9A>G
|
rs779282676
|
|
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser)
|
rs1248850820
|
|
NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)
|
|
|
NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)
|
|
|
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=)
|
|
|
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)
|
rs1833438306
|
|
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
|
|
|
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
|
|
|
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=)
|
rs149806984
|
|
NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)
|
|
|
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=)
|
|
|
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
|
|
|
NM_001008212.2(OPTN):c.1149-13T>A
|
|
|
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)
|
rs267606928
|
|
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
|
|
|
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
|
|
|
NM_001008212.2(OPTN):c.1217del (p.Thr406fs)
|
rs1833451208
|
|
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
|
|
|
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
|
|
|
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs)
|
rs774772178
|
|
NM_001008212.2(OPTN):c.1242+6C>T
|
rs906152658
|
|
NM_001008212.2(OPTN):c.1243-11T>G
|
|
|
NM_001008212.2(OPTN):c.1243-4T>G
|
|
|
NM_001008212.2(OPTN):c.1243-9C>A
|
rs1833497674
|
|
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
|
|
|
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=)
|
|
|
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs)
|
|
|
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
|
|
|
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs)
|
rs1588449569
|
|
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)
|
|
|
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
|
|
|
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=)
|
|
|
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
|
|
|
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg)
|
rs1045159479
|
|
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
|
|
|
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=)
|
|
|
NM_001008212.2(OPTN):c.1400A>C (p.Gln467Pro)
|
rs2131520977
|
|
NM_001008212.2(OPTN):c.1401+1G>A
|
rs1370982012
|
|
NM_001008212.2(OPTN):c.1401+9C>T
|
|
|
NM_001008212.2(OPTN):c.1402-11del
|
|
|
NM_001008212.2(OPTN):c.1402-3C>G
|
rs1588452749
|
|
NM_001008212.2(OPTN):c.1402-7C>T
|
|
|
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)
|
rs886046821
|
|
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)
|
rs267606929
|
|
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=)
|
|
|
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln)
|
rs2131528196
|
|
NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)
|
|
|
NM_001008212.2(OPTN):c.1457A>G (p.His486Arg)
|
|
|
NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu)
|
rs1363384405
|
|
NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)
|
|
|
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg)
|
rs1564354765
|
|
NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)
|
|
|
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
|
|
|
NM_001008212.2(OPTN):c.1532+14A>G
|
|
|
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)
|
|
|
NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)
|
|
|
NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)
|
|
|
NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)
|
|
|
NM_001008212.2(OPTN):c.156C>T (p.His52=)
|
|
|
NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer)
|
rs1446908199
|
|
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)
|
rs1564354968
|
|
NM_001008212.2(OPTN):c.1612+17C>A
|
|
|
NM_001008212.2(OPTN):c.1612+17C>T
|
|
|
NM_001008212.2(OPTN):c.1613-13T>C
|
|
|
NM_001008212.2(OPTN):c.1613-1G>A
|
|
|
NM_001008212.2(OPTN):c.1613-3C>T
|
rs2131534998
|
|
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu)
|
rs967459877
|
|
NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)
|
|
|
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu)
|
rs2131535039
|
|
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
|
|
|
NM_001008212.2(OPTN):c.1642C>A (p.Arg548=)
|
rs767360238
|
|
NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp)
|
rs767360238
|
|
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=)
|
|
|
NM_001008212.2(OPTN):c.166+349_370-945del
|
|
|
NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser)
|
|
|
NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)
|
|
|
NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)
|
|
|
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=)
|
rs1833710699
|
|
NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu)
|
|
|
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
|
|
|
NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)
|
|
|
NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)
|
|
|
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter)
|
rs1275810602
|
|
NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)
|
|
|
NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr)
|
rs1564370960
|
|
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=)
|
|
|
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
|
|
|
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)
|
rs1832936570
|
|
NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)
|
|
|
NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)
|
|
|
NM_001008212.2(OPTN):c.213G>A (p.Glu71=)
|
|
|
NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)
|
|
|
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)
|
|
|
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)
|
|
|
NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)
|
|
|
NM_001008212.2(OPTN):c.261G>A (p.Glu87=)
|
rs749333165
|
|
NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)
|
|
|
NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)
|
|
|
NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)
|
|
|
NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)
|
|
|
NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)
|
|
|
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)
|
rs1832971194
|
|
NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)
|
|
|
NM_001008212.2(OPTN):c.369+11C>G
|
|
|
NM_001008212.2(OPTN):c.369+11C>T
|
|
|
NM_001008212.2(OPTN):c.369+12G>A
|
|
|
NM_001008212.2(OPTN):c.369+2T>C
|
|
|
NM_001008212.2(OPTN):c.370-13T>C
|
rs1410187067
|
|
NM_001008212.2(OPTN):c.370-1G>A
|
rs2131488754
|
|
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
|
|
|
NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro)
|
rs369071606
|
|
NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)
|
|
|
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr)
|
rs1269604352
|
|
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
|
rs113955718
|
|
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)
|
rs140599944
|
|
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala)
|
rs372714385
|
|
NM_001008212.2(OPTN):c.408G>A (p.Ala136=)
|
|
|
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
|
|
|
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
|
|
|
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
|
|
|
NM_001008212.2(OPTN):c.435C>T (p.Thr145=)
|
rs1042488570
|
|
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
|
|
|
NM_001008212.2(OPTN):c.441G>A (p.Val147=)
|
rs886046819
|
|
NM_001008212.2(OPTN):c.447G>T (p.Arg149Ser)
|
rs555741399
|
|
NM_001008212.2(OPTN):c.450dup (p.Gln151fs)
|
|
|
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
|
|
|
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp)
|
rs113811959
|
|
NM_001008212.2(OPTN):c.490C>T (p.Leu164=)
|
|
|
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
|
|
|
NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
|
|
|
NM_001008212.2(OPTN):c.523del (p.Glu175fs)
|
|
|
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
|
|
|
NM_001008212.2(OPTN):c.552+11G>C
|
rs1015367767
|
|
NM_001008212.2(OPTN):c.553-12C>T
|
|
|
NM_001008212.2(OPTN):c.553-17C>T
|
|
|
NM_001008212.2(OPTN):c.553-6_553-5delinsGT
|
|
|
NM_001008212.2(OPTN):c.582A>G (p.Glu194=)
|
|
|
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
|
|
|
NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
|
|
|
NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
|
|
|
NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser)
|
rs1833208430
|
|
NM_001008212.2(OPTN):c.612A>G (p.Thr204=)
|
rs1588441388
|
|
NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
|
|
|
NM_001008212.2(OPTN):c.626+17T>A
|
|
|
NM_001008212.2(OPTN):c.626+18C>T
|
|
|
NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
|
|
|
NM_001008212.2(OPTN):c.627-16C>T
|
|
|
NM_001008212.2(OPTN):c.633G>A (p.Leu211=)
|
|
|
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr)
|
rs1450047435
|
|
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
|
|
|
NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)
|
|
|
NM_001008212.2(OPTN):c.666del (p.Lys223fs)
|
|
|
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
|
|
|
NM_001008212.2(OPTN):c.675C>T (p.Tyr225=)
|
|
|
NM_001008212.2(OPTN):c.678C>T (p.Phe226=)
|
rs560438634
|
|
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
|
|
|
NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
|
|
|
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
|
|
|
NM_001008212.2(OPTN):c.729G>T (p.Gly243=)
|
|
|
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu)
|
rs760339006
|
|
NM_001008212.2(OPTN):c.759A>C (p.Ala253=)
|
|
|
NM_001008212.2(OPTN):c.762C>T (p.Leu254=)
|
|
|
NM_001008212.2(OPTN):c.76C>A (p.His26Asn)
|
|
|
NM_001008212.2(OPTN):c.76C>G (p.His26Asp)
|
|
|
NM_001008212.2(OPTN):c.76del (p.His26fs)
|
rs753966040
|
|
NM_001008212.2(OPTN):c.76dup (p.His26fs)
|
rs753966040
|
|
NM_001008212.2(OPTN):c.779+8A>G
|
|
|
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
|
|
|
NM_001008212.2(OPTN):c.780-1G>C
|
rs759311192
|
|
NM_001008212.2(OPTN):c.780-3C>T
|
|
|
NM_001008212.2(OPTN):c.78C>T (p.His26=)
|
rs1588433321
|
|
NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)
|
|
|
NM_001008212.2(OPTN):c.804A>C (p.Thr268=)
|
|
|
NM_001008212.2(OPTN):c.822T>A (p.Ile274=)
|
rs747912539
|
|
NM_001008212.2(OPTN):c.843C>T (p.Ser281=)
|
|
|
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln)
|
rs1833371043
|
|
NM_001008212.2(OPTN):c.875dup (p.Glu293fs)
|
rs1833371664
|
|
NM_001008212.2(OPTN):c.882+19C>T
|
|
|
NM_001008212.2(OPTN):c.882+20G>A
|
|
|
NM_001008212.2(OPTN):c.882+2_882+3del
|
|
|
NM_001008212.2(OPTN):c.882+5G>A
|
|
|
NM_001008212.2(OPTN):c.883-10C>T
|
|
|
NM_001008212.2(OPTN):c.883-6T>C
|
rs1588446686
|
|
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys)
|
rs1833407271
|
|
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs)
|
rs786205611
|
|
NM_001008212.2(OPTN):c.924T>G (p.Ser308=)
|
|
|
NM_001008212.2(OPTN):c.949C>G (p.His317Asp)
|
rs1387105883
|
|
NM_001008212.2(OPTN):c.94C>T (p.Leu32=)
|
|
|
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
|
|
|
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys)
|
rs886046820
|
|
NM_001008212.2(OPTN):c.964= (p.Glu322=)
|
|
|
NM_001008212.2(OPTN):c.97G>C (p.Asp33His)
|
|
|
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
|
|
|
NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly)
|
rs1564364468
|
|
NM_001008212.2(OPTN):c.986_990del (p.Arg329fs)
|
rs778911925
|
|
NM_001008212.2(OPTN):c.998+18A>G
|
rs1833410378
|
|
NM_001008212.2(OPTN):c.998+19T>C
|
rs1833410442
|
|
NM_001008212.2(OPTN):c.999-16T>C
|
|
|
NM_001008212.2(OPTN):c.999-20G>A
|
|
|
NM_001039550.2(DNAJB2):c.0_229+18del
|
|
|
NM_001042663.3(PLEKHG5):c.22_23insGGCC (p.Lys8fs)
|
rs2148627334
|
|
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)
|
rs113994150
|
|
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)
|
rs1246937494
|
|
NM_001080421.3(UNC13A):c.1668C>A (p.Phe556Leu)
|
|
|
NM_001080421.3(UNC13A):c.182C>T (p.Thr61Met)
|
|
|
NM_001097577.3(ANG):c.*10C>T
|
rs778543068
|
|
NM_001097577.3(ANG):c.*81A>C
|
rs550007170
|
|
NM_001097577.3(ANG):c.-18-4G>A
|
rs373669465
|
|
NM_001097577.3(ANG):c.107A>T (p.Gln36Leu)
|
rs121909535
|
|
NM_001097577.3(ANG):c.121A>G (p.Lys41Glu)
|
rs121909537
|
|
NM_001097577.3(ANG):c.164G>A (p.Arg55Lys)
|
rs121909538
|
|
NM_001097577.3(ANG):c.189C>G (p.Cys63Trp)
|
rs121909539
|
|
NM_001097577.3(ANG):c.191A>T (p.Lys64Ile)
|
rs121909540
|
|
NM_001097577.3(ANG):c.224G>A (p.Arg75His)
|
rs146485834
|
|
NM_001097577.3(ANG):c.324dup (p.Gly109fs)
|
rs1886957607
|
|
NM_001097577.3(ANG):c.368G>A (p.Gly123Glu)
|
rs535311762
|
|
NM_001097577.3(ANG):c.409G>A (p.Val137Ile)
|
rs121909544
|
|
NM_001097577.3(ANG):c.62C>A (p.Pro21Gln)
|
rs773237991
|
|
NM_001097577.3(ANG):c.99C>T (p.Phe33=)
|
rs563139057
|
|
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)
|
rs1424325463
|
|
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)
|
rs17850877
|
|
NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del)
|
rs769661232
|
|
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)
|
rs1590868109
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val)
|
rs751558047
|
|
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr)
|
rs1945271930
|
|
NM_001122955.4(BSCL2):c.259C>T (p.Arg87Cys)
|
|
|
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)
|
rs1349958377
|
|
NM_001122955.4(BSCL2):c.405-21TCC[2]
|
rs768556778
|
|
NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala)
|
rs1565150951
|
|
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)
|
rs137852973
|
|
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
|
|
|
NM_001122955.4(BSCL2):c.487-20A>T
|
rs115756273
|
|
NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr)
|
rs886048442
|
|
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)
|
rs150158560
|
|
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)
|
rs10776
|
|
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)
|
rs781217574
|
|
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)
|
rs998498207
|
|
NM_001122955.4(BSCL2):c.88-613G>A
|
rs112877243
|
|
NM_001122955.4(BSCL2):c.88-620A>C
|
rs886048443
|
|
NM_001122955.4(BSCL2):c.88-663G>A
|
rs117862461
|
|
NM_001122955.4(BSCL2):c.935T>C (p.Val312Ala)
|
|
|
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)
|
rs367783346
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val)
|
rs1060499675
|
|
NM_001130438.3(SPTAN1):c.3388C>T (p.Gln1130Ter)
|
|
|
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)
|
rs1851109762
|
|
NM_001130438.3(SPTAN1):c.4615C>T (p.Gln1539Ter)
|
|
|
NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)
|
|
|
NM_001130438.3(SPTAN1):c.6367del (p.Val2123fs)
|
|
|
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter)
|
rs1859856446
|
|
NM_001145.4(ANG):c.-237A>C
|
rs45525731
|
|
NM_001145.4(ANG):c.-381C>T
|
rs886050396
|
|
NM_001145.4(ANG):c.-542G>A
|
rs1886313088
|
|
NM_001145.4(ANG):c.-594C>A
|
rs886050394
|
|
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp)
|
rs1568504395
|
|
NM_001145809.2(MYH14):c.2272C>G (p.Arg758Gly)
|
|
|
NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro)
|
rs2034878363
|
|
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)
|
rs753356694
|
|
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)
|
rs113993956
|
|
NM_001145809.2(MYH14):c.2929G>C (p.Glu977Gln)
|
|
|
NM_001145809.2(MYH14):c.3457G>A (p.Ala1153Thr)
|
rs2123394094
|
|
NM_001145809.2(MYH14):c.3820C>T (p.Arg1274Trp)
|
|
|
NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys)
|
rs944541812
|
|
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys)
|
rs556548077
|
|
NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp)
|
rs116035034
|
|
NM_001145809.2(MYH14):c.5368C>T (p.Arg1790Cys)
|
|
|
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His)
|
rs567922009
|
|
NM_001145809.2(MYH14):c.5848G>A (p.Glu1950Lys)
|
rs774096368
|
|
NM_001145809.2(MYH14):c.6034G>A (p.Glu2012Lys)
|
|
|
NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro)
|
rs2036794429
|
|
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)
|
rs1215273187
|
|
NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs)
|
rs2036795216
|
|
NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser)
|
rs590722
|
|
NM_001164730.2(REEP1):c.40dup (p.Arg14fs)
|
rs2104562914
|
|
NM_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg)
|
rs768107851
|
|
NM_001166114.2(PNPLA6):c.649G>T (p.Gly217Cys)
|
rs150620708
|
|
NM_001190836.2(DCTN1):c.-18-2073C>T
|
rs566961027
|
|
NM_001199397.3(NEK1):c.1900G>T (p.Glu634Ter)
|
rs199678116
|
|
NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]
|
|
|
NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)
|
|
|
NM_001256054.3(C9orf72):c.-113C>G
|
rs750403732
|
|
NM_001256054.3(C9orf72):c.-157G>A
|
rs1819655845
|
|
NM_001371279.1(REEP1):c.160T>G (p.Phe54Val)
|
|
|
NM_001371279.1(REEP1):c.164C>A (p.Thr55Lys)
|
rs1677004351
|
|
NM_001371279.1(REEP1):c.206A>C (p.Lys69Thr)
|
rs1676462791
|
|
NM_001371279.1(REEP1):c.248del (p.Gly83fs)
|
rs2104244539
|
|
NM_001371279.1(REEP1):c.304-2A>G
|
rs387907242
|
|
NM_001371279.1(REEP1):c.67T>C (p.Ser23Pro)
|
rs2104394897
|
|
NM_001371279.1(REEP1):c.683A>C (p.Gln228Pro)
|
|
|
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
|
|
|
NM_001372574.1(ATXN2):c.18GCA[28] (p.Gln14_Gln28dup)
|
rs193922927
|
|
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln)
|
rs867381855
|
|
NM_001372574.1(ATXN2):c.2470A>C (p.Ile824Leu)
|
rs1338140819
|
|
NM_001372574.1(ATXN2):c.289-11del
|
rs144235483
|
|
NM_001372574.1(ATXN2):c.289-11dup
|
rs144235483
|
|
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr)
|
rs762930876
|
|
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)
|
rs10560189
|
|
NM_001376.5(DYNC1H1):c.1012G>A (p.Asp338Asn)
|
rs1555408131
|
|
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)
|
rs1555411400
|
|
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)
|
rs1818621543
|
|
NM_001376.5(DYNC1H1):c.1136G>A (p.Arg379His)
|
rs764826411
|
|
NM_001376.5(DYNC1H1):c.11464C>T (p.His3822Tyr)
|
rs2152595124
|
|
NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp)
|
rs754712755
|
|
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met)
|
rs780676515
|
|
NM_001376.5(DYNC1H1):c.11851G>T (p.Val3951Phe)
|
rs2152595709
|
|
NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly)
|
rs1595599240
|
|
NM_001376.5(DYNC1H1):c.11989C>T (p.Arg3997Trp)
|
rs1399236395
|
|
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=)
|
rs1446298826
|
|
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=)
|
rs114906811
|
|
NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg)
|
rs1060499574
|
|
NM_001376.5(DYNC1H1):c.12722C>G (p.Ser4241Cys)
|
rs778752793
|
|
NM_001376.5(DYNC1H1):c.13373-4G>A
|
rs2152600995
|
|
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr)
|
rs1567026040
|
|
NM_001376.5(DYNC1H1):c.13497T>C (p.Gly4499=)
|
rs1555412704
|
|
NM_001376.5(DYNC1H1):c.13515+19dup
|
rs774180410
|
|
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile)
|
rs750566844
|
|
NM_001376.5(DYNC1H1):c.1427T>C (p.Leu476Pro)
|
|
|
NM_001376.5(DYNC1H1):c.161_172del (p.50AALE[1])
|
|
|
NM_001376.5(DYNC1H1):c.1738G>A (p.Glu580Lys)
|
rs863223361
|
|
NM_001376.5(DYNC1H1):c.1741A>C (p.Met581Leu)
|
rs1566999047
|
|
NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu)
|
rs387906741
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376.5(DYNC1H1):c.1793G>C (p.Arg598Pro)
|
|
|
NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu)
|
rs879254085
|
|
NM_001376.5(DYNC1H1):c.1808A>T (p.Glu603Val)
|
rs1595600898
|
|
NM_001376.5(DYNC1H1):c.1817C>T (p.Thr606Ile)
|
rs1566999079
|
|
NM_001376.5(DYNC1H1):c.1834G>A (p.Val612Met)
|
rs1555408333
|
|
NM_001376.5(DYNC1H1):c.1867T>C (p.Phe623Leu)
|
rs2141274749
|
|
NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu)
|
rs387906742
|
|
NM_001376.5(DYNC1H1):c.2019G>C (p.Trp673Cys)
|
rs1555408345
|
|
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)
|
rs1057518083
|
|
NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys)
|
rs387906743
|
|
NM_001376.5(DYNC1H1):c.2989C>T (p.Pro997Ser)
|
|
|
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.3157-2A>T
|
rs2141280750
|
|
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys)
|
rs2048038246
|
|
NM_001376.5(DYNC1H1):c.3346G>C (p.Val1116Leu)
|
|
|
NM_001376.5(DYNC1H1):c.3395G>A (p.Gly1132Glu)
|
rs2141280974
|
|
NM_001376.5(DYNC1H1):c.3504del (p.Phe1169fs)
|
rs2141281091
|
|
NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser)
|
rs727505393
|
|
NM_001376.5(DYNC1H1):c.3624G>T (p.Trp1208Cys)
|
|
|
NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met)
|
rs751865408
|
|
NM_001376.5(DYNC1H1):c.4106A>G (p.Gln1369Arg)
|
rs2141285787
|
|
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr)
|
rs1555409418
|
|
NM_001376.5(DYNC1H1):c.5114T>C (p.Val1705Ala)
|
rs2048178354
|
|
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met)
|
rs1555409563
|
|
NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly)
|
rs773630385
|
|
NM_001376.5(DYNC1H1):c.5597T>A (p.Phe1866Tyr)
|
rs2141289673
|
|
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys)
|
rs879253881
|
|
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287
|
|
NM_001376.5(DYNC1H1):c.596A>C (p.Asn199Thr)
|
|
|
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
|
|
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634
|
|
NM_001376.5(DYNC1H1):c.7747A>G (p.Thr2583Ala)
|
rs2048329952
|
|
NM_001376.5(DYNC1H1):c.7846G>A (p.Glu2616Lys)
|
rs1555410285
|
|
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)
|
rs797045535
|
|
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)
|
rs713993043
|
|
NM_001376.5(DYNC1H1):c.791G>C (p.Arg264Pro)
|
rs713993043
|
|
NM_001376.5(DYNC1H1):c.791G>T (p.Arg264Leu)
|
rs713993043
|
|
NM_001376.5(DYNC1H1):c.7931C>T (p.Thr2644Ile)
|
rs1595617838
|
|
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
|
rs201272954
|
|
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His)
|
rs2152584603
|
|
NM_001376.5(DYNC1H1):c.8606G>T (p.Arg2869Leu)
|
|
|
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=)
|
rs1566996726
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs)
|
rs2152590132
|
|
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met)
|
rs1567017825
|
|
NM_001376.5(DYNC1H1):c.962-15dup
|
rs3830914
|
|
NM_001376.5(DYNC1H1):c.9642+4C>T
|
rs773101138
|
|
NM_001378743.1(CYLD):c.1008A>C (p.Lys336Asn)
|
|
|
NM_001378743.1(CYLD):c.1016C>T (p.Ala339Val)
|
|
|
NM_001378743.1(CYLD):c.1078G>C (p.Gly360Arg)
|
|
|
NM_001378743.1(CYLD):c.1111del (p.Ser371fs)
|
|
|
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)
|
rs886040872
|
|
NM_001378743.1(CYLD):c.1141G>T (p.Ala381Ser)
|
|
|
NM_001378743.1(CYLD):c.1151C>T (p.Pro384Leu)
|
|
|
NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg)
|
rs200759332
|
|
NM_001378743.1(CYLD):c.1190G>A (p.Arg397His)
|
|
|
NM_001378743.1(CYLD):c.1249C>T (p.His417Tyr)
|
|
|
NM_001378743.1(CYLD):c.125C>T (p.Pro42Leu)
|
|
|
NM_001378743.1(CYLD):c.1289A>G (p.Asn430Ser)
|
|
|
NM_001378743.1(CYLD):c.1331C>G (p.Ser444Cys)
|
|
|
NM_001378743.1(CYLD):c.1402C>T (p.His468Tyr)
|
|
|
NM_001378743.1(CYLD):c.1433T>C (p.Val478Ala)
|
|
|
NM_001378743.1(CYLD):c.157C>T (p.Arg53Cys)
|
|
|
NM_001378743.1(CYLD):c.1763T>C (p.Ile588Thr)
|
|
|
NM_001378743.1(CYLD):c.1827-3C>A
|
|
|
NM_001378743.1(CYLD):c.208A>G (p.Ile70Val)
|
|
|
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)
|
rs1971438573
|
|
NM_001378743.1(CYLD):c.2172A>C (p.Lys724Asn)
|
|
|
NM_001378743.1(CYLD):c.241G>T (p.Val81Phe)
|
|
|
NM_001378743.1(CYLD):c.2434A>G (p.Lys812Glu)
|
|
|
NM_001378743.1(CYLD):c.2462A>G (p.Asn821Ser)
|
|
|
NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile)
|
rs775394735
|
|
NM_001378743.1(CYLD):c.2578G>C (p.Glu860Gln)
|
|
|
NM_001378743.1(CYLD):c.2644G>A (p.Asp882Asn)
|
|
|
NM_001378743.1(CYLD):c.2650G>T (p.Ala884Ser)
|
|
|
NM_001378743.1(CYLD):c.274A>G (p.Ile92Val)
|
|
|
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)
|
rs121908390
|
|
NM_001378743.1(CYLD):c.285G>C (p.Lys95Asn)
|
|
|
NM_001378743.1(CYLD):c.421A>C (p.Lys141Gln)
|
|
|
NM_001378743.1(CYLD):c.439C>T (p.Arg147Cys)
|
|
|
NM_001378743.1(CYLD):c.467G>A (p.Arg156Lys)
|
|
|
NM_001378743.1(CYLD):c.55C>T (p.Arg19Trp)
|
|
|
NM_001378743.1(CYLD):c.608A>C (p.Glu203Ala)
|
|
|
NM_001378743.1(CYLD):c.611T>C (p.Leu204Pro)
|
|
|
NM_001378743.1(CYLD):c.635T>C (p.Leu212Ser)
|
|
|
NM_001378743.1(CYLD):c.640A>G (p.Ser214Gly)
|
|
|
NM_001378743.1(CYLD):c.649G>A (p.Ala217Thr)
|
|
|
NM_001378743.1(CYLD):c.680T>C (p.Leu227Pro)
|
|
|
NM_001378743.1(CYLD):c.685C>T (p.Pro229Ser)
|
|
|
NM_001378743.1(CYLD):c.694A>G (p.Ile232Val)
|
|
|
NM_001378743.1(CYLD):c.70C>T (p.Leu24Phe)
|
|
|
NM_001378743.1(CYLD):c.727A>G (p.Thr243Ala)
|
|
|
NM_001378743.1(CYLD):c.761T>G (p.Val254Gly)
|
|
|
NM_001378743.1(CYLD):c.841G>A (p.Asp281Asn)
|
|
|
NM_001378743.1(CYLD):c.956T>G (p.Leu319Arg)
|
|
|
NM_001393704.1(MOBP):c.514C>A (p.Arg172Ser)
|
rs1188260744
|
|
NM_001540.4(HSPB1):c.-122G>T
|
rs553127513
|
|
NM_001540.4(HSPB1):c.-129G>T
|
rs886062446
|
|
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)
|
rs765197724
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165
|
|
NM_001540.5(HSPB1):c.180dup (p.Ala61fs)
|
rs1064796370
|
|
NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser)
|
rs1563651698
|
|
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
|
rs926257693
|
|
NM_001540.5(HSPB1):c.295C>A (p.Leu99Met)
|
rs121909113
|
|
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)
|
rs765142574
|
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670
|
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768
|
|
NM_001540.5(HSPB1):c.365-7C>T
|
rs201897299
|
|
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)
|
rs29001571
|
|
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)
|
rs28939680
|
|
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
|
rs28939680
|
|
NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala)
|
rs1554614648
|
|
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112
|
|
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)
|
rs28937568
|
|
NM_001540.5(HSPB1):c.510del (p.Lys171fs)
|
rs1803069940
|
|
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)
|
rs104894020
|
|
NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu)
|
rs28937569
|
|
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu)
|
rs774585320
|
|
NM_001540.5(HSPB1):c.60C>T (p.Arg20=)
|
rs1803014628
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
|
rs1310856057
|
|
NM_001761.3(CCNF):c.205C>T (p.His69Tyr)
|
|
|
NM_001761.3(CCNF):c.436G>A (p.Ala146Thr)
|
|
|
NM_001761.3(CCNF):c.481G>A (p.Gly161Arg)
|
|
|
NM_001761.3(CCNF):c.585T>G (p.Ser195Arg)
|
rs1371569927
|
|
NM_001761.3(CCNF):c.62G>A (p.Arg21Gln)
|
|
|
NM_001917.5(DAO):c.212C>T (p.Thr71Ile)
|
rs138277420
|
|
NM_001917.5(DAO):c.34G>A (p.Gly12Arg)
|
rs373913310
|
|
NM_001917.5(DAO):c.962G>A (p.Gly321Glu)
|
rs2039610204
|
|
NM_002047.2(GARS1):c.-180G>C
|
rs919928419
|
|
NM_002047.2(GARS1):c.-195A>T
|
rs940014942
|
|
NM_002047.2(GARS1):c.-197G>C
|
rs886062269
|
|
NM_002047.2(GARS1):c.-45C>G
|
rs903029869
|
|
NM_002047.2(GARS1):c.-59C>T
|
rs886062271
|
|
NM_002047.2(GARS1):c.-64C>T
|
rs932663016
|
|
NM_002047.2(GARS1):c.-69T>G
|
rs527307703
|
|
NM_002047.4(GARS1):c.-36C>A
|
rs531483802
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)
|
rs1303447354
|
|
NM_002047.4(GARS1):c.1004C>T (p.Ser335Phe)
|
|
|
NM_002047.4(GARS1):c.1015G>A (p.Gly339Arg)
|
rs2128134030
|
|
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
|
rs1782883200
|
|
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)
|
rs1060502836
|
|
NM_002047.4(GARS1):c.1194+3A>C
|
rs1782884805
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
|
rs1783175611
|
|
NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala)
|
rs747080824
|
|
NM_002047.4(GARS1):c.2065C>T (p.Arg689Cys)
|
rs376308368
|
|
NM_002047.4(GARS1):c.2074A>G (p.Met692Val)
|
|
|
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)
|
rs137852645
|
|
NM_002047.4(GARS1):c.376G>A (p.Asp126Asn)
|
|
|
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)
|
rs137852644
|
|
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
|
rs1554337369
|
|
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136
|
|
NM_002047.4(GARS1):c.643G>C (p.Asp215His)
|
rs1584026191
|
|
NM_002047.4(GARS1):c.647A>G (p.His216Arg)
|
rs768987322
|
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974
|
|
NM_002047.4(GARS1):c.977T>C (p.Ile326Thr)
|
|
|
NM_002047.4(GARS1):c.979G>A (p.Gly327Arg)
|
rs1584034430
|
|
NM_002047.4(GARS1):c.998A>G (p.Glu333Gly)
|
rs863224873
|
|
NM_002047.4(GARS1):c.998A>T (p.Glu333Val)
|
rs863224873
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del)
|
rs758168578
|
|
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
|
|
|
NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]
|
|
|
NM_002180.3(IGHMBP2):c.*108G>A
|
rs1020096647
|
|
NM_002180.3(IGHMBP2):c.*226G>C
|
rs1447465473
|
|
NM_002180.3(IGHMBP2):c.*242C>T
|
rs543587344
|
|
NM_002180.3(IGHMBP2):c.*524T>C
|
rs192025232
|
|
NM_002180.3(IGHMBP2):c.*648G>A
|
rs139118510
|
|
NM_002180.3(IGHMBP2):c.*648G>T
|
rs139118510
|
|
NM_002180.3(IGHMBP2):c.*698C>A
|
rs1859711487
|
|
NM_002180.3(IGHMBP2):c.*729G>A
|
rs191714559
|
|
NM_002180.3(IGHMBP2):c.*788C>T
|
rs886048610
|
|
NM_002180.3(IGHMBP2):c.*797T>G
|
rs898341326
|
|
NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys)
|
rs1594431740
|
|
NM_002180.3(IGHMBP2):c.1008A>G (p.Ala336=)
|
|
|
NM_002180.3(IGHMBP2):c.1011T>G (p.Ala337=)
|
|
|
NM_002180.3(IGHMBP2):c.1017C>G (p.Leu339=)
|
|
|
NM_002180.3(IGHMBP2):c.1017C>T (p.Leu339=)
|
|
|
NM_002180.3(IGHMBP2):c.1026C>T (p.Leu342=)
|
|
|
NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu)
|
rs199586231
|
|
NM_002180.3(IGHMBP2):c.1041_1043del (p.Val348del)
|
rs1858730437
|
|
NM_002180.3(IGHMBP2):c.1053A>C (p.Thr351=)
|
|
|
NM_002180.3(IGHMBP2):c.1058C>G (p.Thr353Arg)
|
rs1368446033
|
|
NM_002180.3(IGHMBP2):c.1060+18T>A
|
|
|
NM_002180.3(IGHMBP2):c.1060+1G>T
|
rs1366461184
|
|
NM_002180.3(IGHMBP2):c.1060+7G>A
|
|
|
NM_002180.3(IGHMBP2):c.1060+8G>C
|
|
|
NM_002180.3(IGHMBP2):c.1060+9G>A
|
|
|
NM_002180.3(IGHMBP2):c.1061-16T>C
|
|
|
NM_002180.3(IGHMBP2):c.1061-20C>A
|
|
|
NM_002180.3(IGHMBP2):c.1061-20C>T
|
|
|
NM_002180.3(IGHMBP2):c.1065G>T (p.Ala355=)
|
|
|
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe)
|
rs2154008237
|
|
NM_002180.3(IGHMBP2):c.1074T>C (p.Asp358=)
|
|
|
NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg)
|
rs1768499175
|
|
NM_002180.3(IGHMBP2):c.1080C>G (p.Pro360=)
|
|
|
NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs)
|
|
|
NM_002180.3(IGHMBP2):c.1086G>A (p.Lys362=)
|
|
|
NM_002180.3(IGHMBP2):c.108T>G (p.Ser36=)
|
rs2154006530
|
|
NM_002180.3(IGHMBP2):c.1091T>C (p.Leu364Pro)
|
rs1594445394
|
|
NM_002180.3(IGHMBP2):c.1095C>T (p.Pro365=)
|
|
|
NM_002180.3(IGHMBP2):c.1101C>T (p.Ser367=)
|
|
|
NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu)
|
rs137852670
|
|
NM_002180.3(IGHMBP2):c.1107C>T (p.Phe369=)
|
|
|
NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe)
|
rs2154008241
|
|
NM_002180.3(IGHMBP2):c.1122T>C (p.Ile374=)
|
|
|
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys)
|
rs1178427226
|
|
NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg)
|
rs2154008248
|
|
NM_002180.3(IGHMBP2):c.1139C>T (p.Ala380Val)
|
rs1859182151
|
|
NM_002180.3(IGHMBP2):c.1143C>G (p.Leu381=)
|
rs145314949
|
|
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)
|
rs776730737
|
|
NM_002180.3(IGHMBP2):c.114del (p.Glu39fs)
|
rs1594415299
|
|
NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn)
|
|
|
NM_002180.3(IGHMBP2):c.1161C>T (p.Ile387=)
|
|
|
NM_002180.3(IGHMBP2):c.1164C>G (p.Pro388=)
|
|
|
NM_002180.3(IGHMBP2):c.1165C>T (p.Leu389=)
|
|
|
NM_002180.3(IGHMBP2):c.117G>A (p.Glu39=)
|
|
|
NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu)
|
rs35193202
|
|
NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg)
|
rs1555246489
|
|
NM_002180.3(IGHMBP2):c.1212G>T (p.Leu404=)
|
|
|
NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs)
|
|
|
NM_002180.3(IGHMBP2):c.1218C>A (p.Pro406=)
|
|
|
NM_002180.3(IGHMBP2):c.1218C>G (p.Pro406=)
|
|
|
NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs)
|
rs1594445698
|
|
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)
|
rs137852668
|
|
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)
|
rs1332319177
|
|
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
|
rs780692442
|
|
NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs)
|
|
|
NM_002180.3(IGHMBP2):c.1235+10del
|
rs747881237
|
|
NM_002180.3(IGHMBP2):c.1235+13T>C
|
|
|
NM_002180.3(IGHMBP2):c.1235+17_1235+25del
|
|
|
NM_002180.3(IGHMBP2):c.1235+18_1235+27del
|
|
|
NM_002180.3(IGHMBP2):c.1235+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.1235+20_1235+21del
|
|
|
NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG
|
|
|
NM_002180.3(IGHMBP2):c.1235+894C>A
|
rs1202430946
|
|
NM_002180.3(IGHMBP2):c.1235+894C>G
|
|
|
NM_002180.3(IGHMBP2):c.1235+894C>T
|
|
|
NM_002180.3(IGHMBP2):c.1236-17C>T
|
|
|
NM_002180.3(IGHMBP2):c.1236-19T>A
|
|
|
NM_002180.3(IGHMBP2):c.1236-1G>T
|
rs1124336
|
|
NM_002180.3(IGHMBP2):c.1236-4G>T
|
|
|
NM_002180.3(IGHMBP2):c.1236-6G>C
|
rs201538340
|
|
NM_002180.3(IGHMBP2):c.1236-6G>T
|
|
|
NM_002180.3(IGHMBP2):c.1239T>C (p.Ala413=)
|
|
|
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
|
|
|
NM_002180.3(IGHMBP2):c.1242G>A (p.Ala414=)
|
|
|
NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1254G>A (p.Leu418=)
|
|
|
NM_002180.3(IGHMBP2):c.1260C>G (p.Leu420=)
|
rs1345673085
|
|
NM_002180.3(IGHMBP2):c.1263C>T (p.Ser421=)
|
|
|
NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro)
|
rs1594451196
|
|
NM_002180.3(IGHMBP2):c.1287G>A (p.Glu429=)
|
|
|
NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser)
|
|
|
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
|
rs1859389487
|
|
NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=)
|
|
|
NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly)
|
rs1464006744
|
|
NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs)
|
rs777570288
|
|
NM_002180.3(IGHMBP2):c.1307G>A (p.Arg436Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
NM_002180.3(IGHMBP2):c.1317G>A (p.Thr439=)
|
|
|
NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His)
|
rs2154008602
|
|
NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro)
|
|
|
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)
|
rs571142182
|
|
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)
|
rs372181708
|
|
NM_002180.3(IGHMBP2):c.133del (p.Val45fs)
|
rs1594415353
|
|
NM_002180.3(IGHMBP2):c.1346del (p.Met449fs)
|
rs879253865
|
|
NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs)
|
|
|
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
|
rs1859394402
|
|
NM_002180.3(IGHMBP2):c.1362C>T (p.Asp454=)
|
|
|
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro)
|
rs775232759
|
|
NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe)
|
|
|
NM_002180.3(IGHMBP2):c.1377G>C (p.Gly459=)
|
|
|
NM_002180.3(IGHMBP2):c.1383C>T (p.Leu461=)
|
|
|
NM_002180.3(IGHMBP2):c.1392C>T (p.His464=)
|
|
|
NM_002180.3(IGHMBP2):c.1395T>C (p.Ser465=)
|
rs1594451498
|
|
NM_002180.3(IGHMBP2):c.1398C>G (p.Ser466=)
|
|
|
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=)
|
rs147477786
|
|
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs)
|
|
|
NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met)
|
rs755120725
|
|
NM_002180.3(IGHMBP2):c.1410C>T (p.His470=)
|
rs1484199036
|
|
NM_002180.3(IGHMBP2):c.1413C>G (p.Leu471=)
|
|
|
NM_002180.3(IGHMBP2):c.1416G>A (p.Leu472=)
|
|
|
NM_002180.3(IGHMBP2):c.1418+13G>T
|
|
|
NM_002180.3(IGHMBP2):c.1418+1G>C
|
rs1160978570
|
|
NM_002180.3(IGHMBP2):c.1418+4_1418+5del
|
|
|
NM_002180.3(IGHMBP2):c.1418+5G>A
|
|
|
NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys)
|
rs1594451539
|
|
NM_002180.3(IGHMBP2):c.1419-10T>C
|
|
|
NM_002180.3(IGHMBP2):c.1419-17C>T
|
|
|
NM_002180.3(IGHMBP2):c.1419-8T>C
|
|
|
NM_002180.3(IGHMBP2):c.1428A>G (p.Pro476=)
|
|
|
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met)
|
rs2154008642
|
|
NM_002180.3(IGHMBP2):c.1443A>G (p.Thr481=)
|
|
|
NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1461C>T (p.Pro487=)
|
|
|
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro)
|
rs2154008646
|
|
NM_002180.3(IGHMBP2):c.1464G>A (p.Leu488=)
|
|
|
NM_002180.3(IGHMBP2):c.1464G>C (p.Leu488=)
|
|
|
NM_002180.3(IGHMBP2):c.1468T>C (p.Leu490=)
|
|
|
NM_002180.3(IGHMBP2):c.1470G>A (p.Leu490=)
|
|
|
NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met)
|
|
|
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala)
|
rs2154008651
|
|
NM_002180.3(IGHMBP2):c.1479C>G (p.Thr493=)
|
rs370367228
|
|
NM_002180.3(IGHMBP2):c.1488C>T (p.Cys496=)
|
rs145226920
|
|
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
|
rs764111837
|
|
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp)
|
rs764111837
|
|
NM_002180.3(IGHMBP2):c.1493T>C (p.Leu498Pro)
|
rs2154008654
|
|
NM_002180.3(IGHMBP2):c.1494G>A (p.Leu498=)
|
|
|
NM_002180.3(IGHMBP2):c.1503G>T (p.Leu501=)
|
|
|
NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=)
|
|
|
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)
|
rs556292818
|
|
NM_002180.3(IGHMBP2):c.1518A>G (p.Glu506=)
|
|
|
NM_002180.3(IGHMBP2):c.1519C>T (p.Gln507Ter)
|
rs1285517746
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002180.3(IGHMBP2):c.1524G>A (p.Ser508=)
|
rs747627986
|
|
NM_002180.3(IGHMBP2):c.1524G>C (p.Ser508=)
|
rs747627986
|
|
NM_002180.3(IGHMBP2):c.1524G>T (p.Ser508=)
|
rs747627986
|
|
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
|
rs1049595127
|
|
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
|
rs772984773
|
|
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
|
rs1859418981
|
|
NM_002180.3(IGHMBP2):c.1537+10C>T
|
|
|
NM_002180.3(IGHMBP2):c.1537+13G>A
|
|
|
NM_002180.3(IGHMBP2):c.1537+18T>C
|
|
|
NM_002180.3(IGHMBP2):c.1538-11_1538-8del
|
rs1566444289
|
|
NM_002180.3(IGHMBP2):c.1538-20C>G
|
|
|
NM_002180.3(IGHMBP2):c.1538-20C>T
|
rs147148090
|
|
NM_002180.3(IGHMBP2):c.1538-4C>T
|
rs757915735
|
|
NM_002180.3(IGHMBP2):c.1538-5T>G
|
|
|
NM_002180.3(IGHMBP2):c.1538-7C>A
|
|
|
NM_002180.3(IGHMBP2):c.1538-9T>A
|
|
|
NM_002180.3(IGHMBP2):c.1539C>G (p.Gly513=)
|
rs746624957
|
|
NM_002180.3(IGHMBP2):c.1539C>T (p.Gly513=)
|
rs746624957
|
|
NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile)
|
rs926718557
|
|
NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu)
|
rs926718557
|
|
NM_002180.3(IGHMBP2):c.1562A>G (p.His521Arg)
|
rs1555247556
|
|
NM_002180.3(IGHMBP2):c.1564A>G (p.Ile522Val)
|
rs1859447330
|
|
NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg)
|
rs1594452962
|
|
NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=)
|
|
|
NM_002180.3(IGHMBP2):c.1584T>G (p.Ala528=)
|
rs1461885178
|
|
NM_002180.3(IGHMBP2):c.1587T>G (p.Gly529=)
|
rs886048604
|
|
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)
|
rs1178878248
|
|
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703
|
|
NM_002180.3(IGHMBP2):c.15T>A (p.Ala5=)
|
|
|
NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=)
|
|
|
NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del)
|
rs1594453111
|
|
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu)
|
rs879253887
|
|
NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=)
|
|
|
NM_002180.3(IGHMBP2):c.1632+12T>C
|
|
|
NM_002180.3(IGHMBP2):c.1632+13C>T
|
|
|
NM_002180.3(IGHMBP2):c.1632+15T>A
|
|
|
NM_002180.3(IGHMBP2):c.1632+16T>G
|
|
|
NM_002180.3(IGHMBP2):c.1632+19G>A
|
|
|
NM_002180.3(IGHMBP2):c.1632+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.1632+3del
|
rs2154008712
|
|
NM_002180.3(IGHMBP2):c.1632+7G>A
|
|
|
NM_002180.3(IGHMBP2):c.1632+8G>A
|
|
|
NM_002180.3(IGHMBP2):c.1633-12C>G
|
|
|
NM_002180.3(IGHMBP2):c.1633-15C>T
|
|
|
NM_002180.3(IGHMBP2):c.1633-2A>G
|
rs1566445029
|
|
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu)
|
rs1859480727
|
|
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala)
|
rs1566445036
|
|
NM_002180.3(IGHMBP2):c.1638C>T (p.Asp546=)
|
|
|
NM_002180.3(IGHMBP2):c.1664G>A (p.Arg555Lys)
|
rs2154008764
|
|
NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr)
|
rs7122089
|
|
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala)
|
rs7122089
|
|
NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser)
|
rs201649839
|
|
NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs)
|
|
|
NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val)
|
|
|
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs)
|
rs1555247732
|
|
NM_002180.3(IGHMBP2):c.1682T>C (p.Ile561Thr)
|
rs1594454240
|
|
NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu)
|
rs1566445093
|
|
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=)
|
rs2154006537
|
|
NM_002180.3(IGHMBP2):c.1692C>T (p.Val564=)
|
|
|
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
|
rs1859483901
|
|
NM_002180.3(IGHMBP2):c.1701C>T (p.Phe567=)
|
rs2154008770
|
|
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
|
rs1311146809
|
|
NM_002180.3(IGHMBP2):c.1707C>T (p.Gly569=)
|
rs1594454271
|
|
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)
|
rs1000091588
|
|
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1713G>A (p.Glu571=)
|
|
|
NM_002180.3(IGHMBP2):c.1714_1716del (p.Lys572del)
|
rs775542203
|
|
NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly)
|
rs1566445153
|
|
NM_002180.3(IGHMBP2):c.1719G>A (p.Glu573=)
|
|
|
NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=)
|
|
|
NM_002180.3(IGHMBP2):c.1720G>A (p.Ala574Thr)
|
rs1378524388
|
|
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1731G>C (p.Leu577=)
|
|
|
NM_002180.3(IGHMBP2):c.1734C>T (p.Ser578=)
|
|
|
NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys)
|
rs1566445212
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala)
|
rs2154006539
|
|
NM_002180.3(IGHMBP2):c.1741A>C (p.Arg581=)
|
|
|
NM_002180.3(IGHMBP2):c.1756+7A>G
|
|
|
NM_002180.3(IGHMBP2):c.1757-13T>C
|
|
|
NM_002180.3(IGHMBP2):c.1757-17C>T
|
|
|
NM_002180.3(IGHMBP2):c.1757-19C>T
|
|
|
NM_002180.3(IGHMBP2):c.1757-4G>A
|
|
|
NM_002180.3(IGHMBP2):c.1757-9C>T
|
|
|
NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile)
|
rs1566445855
|
|
NM_002180.3(IGHMBP2):c.1773T>G (p.Leu591=)
|
|
|
NM_002180.3(IGHMBP2):c.177G>A (p.Leu59=)
|
rs776499527
|
|
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
|
rs777841793
|
|
NM_002180.3(IGHMBP2):c.1783C>A (p.Arg595=)
|
|
|
NM_002180.3(IGHMBP2):c.1794C>A (p.Asn598Lys)
|
rs1337346956
|
|
NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=)
|
|
|
NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile)
|
rs779182888
|
|
NM_002180.3(IGHMBP2):c.1806C>T (p.Thr602=)
|
|
|
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)
|
rs1240319744
|
|
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943
|
|
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met)
|
rs573382473
|
|
NM_002180.3(IGHMBP2):c.1824G>C (p.Val608=)
|
|
|
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
|
|
|
NM_002180.3(IGHMBP2):c.1848T>C (p.Thr616=)
|
rs1164401206
|
|
NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.1854C>T (p.Asn618=)
|
|
|
NM_002180.3(IGHMBP2):c.1857C>T (p.Asn619=)
|
|
|
NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs)
|
|
|
NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs)
|
|
|
NM_002180.3(IGHMBP2):c.1890C>G (p.Phe630Leu)
|
|
|
NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1898A>G (p.His633Arg)
|
rs1594455594
|
|
NM_002180.3(IGHMBP2):c.189G>C (p.Leu63=)
|
|
|
NM_002180.3(IGHMBP2):c.1905A>G (p.Glu635=)
|
|
|
NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs)
|
|
|
NM_002180.3(IGHMBP2):c.1923G>A (p.Glu641=)
|
rs1555247971
|
|
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His)
|
rs1413846126
|
|
NM_002180.3(IGHMBP2):c.1938T>C (p.Ile646=)
|
rs1555247978
|
|
NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile)
|
|
|
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro)
|
rs1859530717
|
|
NM_002180.3(IGHMBP2):c.195C>T (p.Val65=)
|
|
|
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
|
rs753926352
|
|
NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs)
|
|
|
NM_002180.3(IGHMBP2):c.1974T>G (p.Gly658=)
|
rs1859531837
|
|
NM_002180.3(IGHMBP2):c.1977C>T (p.Ser659=)
|
|
|
NM_002180.3(IGHMBP2):c.1986T>C (p.Ala662=)
|
|
|
NM_002180.3(IGHMBP2):c.1989C>T (p.Ala663=)
|
|
|
NM_002180.3(IGHMBP2):c.1998C>T (p.Pro666=)
|
rs1308205831
|
|
NM_002180.3(IGHMBP2):c.200T>C (p.Phe67Ser)
|
rs1555242247
|
|
NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg)
|
rs377743886
|
|
NM_002180.3(IGHMBP2):c.2013G>A (p.Thr671=)
|
|
|
NM_002180.3(IGHMBP2):c.2043G>A (p.Glu681=)
|
|
|
NM_002180.3(IGHMBP2):c.2043G>C (p.Glu681Asp)
|
rs1859535346
|
|
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
|
rs1859535801
|
|
NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr)
|
rs1859535898
|
|
NM_002180.3(IGHMBP2):c.2079_2080delinsGT (p.Arg694Trp)
|
rs2154008864
|
|
NM_002180.3(IGHMBP2):c.2083A>T (p.Lys695Ter)
|
rs1594455979
|
|
NM_002180.3(IGHMBP2):c.2094T>C (p.Ala698=)
|
|
|
NM_002180.3(IGHMBP2):c.2116G>A (p.Ala706Thr)
|
rs746334377
|
|
NM_002180.3(IGHMBP2):c.2118T>C (p.Ala706=)
|
|
|
NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=)
|
rs773543257
|
|
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter)
|
rs773543257
|
|
NM_002180.3(IGHMBP2):c.2121A>C (p.Pro707=)
|
rs1342765347
|
|
NM_002180.3(IGHMBP2):c.2129C>T (p.Pro710Leu)
|
rs1594456094
|
|
NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg)
|
rs879254320
|
|
NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln)
|
|
|
NM_002180.3(IGHMBP2):c.2157A>G (p.Gly719=)
|
rs774145467
|
|
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)
|
rs755468547
|
|
NM_002180.3(IGHMBP2):c.2172T>C (p.Asp724=)
|
|
|
NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu)
|
rs536678728
|
|
NM_002180.3(IGHMBP2):c.2193C>T (p.Ala731=)
|
|
|
NM_002180.3(IGHMBP2):c.2202G>C (p.Val734=)
|
|
|
NM_002180.3(IGHMBP2):c.2205G>C (p.Glu735Asp)
|
rs1594456265
|
|
NM_002180.3(IGHMBP2):c.2209A>G (p.Met737Val)
|
rs1042285874
|
|
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg)
|
rs1859546493
|
|
NM_002180.3(IGHMBP2):c.222C>A (p.Ser74=)
|
rs139237340
|
|
NM_002180.3(IGHMBP2):c.2230T>C (p.Leu744=)
|
|
|
NM_002180.3(IGHMBP2):c.2238T>C (p.Phe746=)
|
|
|
NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2262C>T (p.Asp754=)
|
|
|
NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser)
|
|
|
NM_002180.3(IGHMBP2):c.2266C>T (p.Leu756=)
|
|
|
NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln)
|
|
|
NM_002180.3(IGHMBP2):c.2274C>G (p.Val758=)
|
|
|
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.2299C>T (p.Leu767=)
|
|
|
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro)
|
rs778774954
|
|
NM_002180.3(IGHMBP2):c.2316C>G (p.Ser772=)
|
|
|
NM_002180.3(IGHMBP2):c.2325G>C (p.Gly775=)
|
|
|
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
|
|
|
NM_002180.3(IGHMBP2):c.234T>C (p.Leu78=)
|
|
|
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
|
rs750994603
|
|
NM_002180.3(IGHMBP2):c.2373A>T (p.Ala791=)
|
|
|
NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr)
|
rs766802836
|
|
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
|
rs760161861
|
|
NM_002180.3(IGHMBP2):c.2386C>G (p.Pro796Ala)
|
rs1438075631
|
|
NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=)
|
rs757779436
|
|
NM_002180.3(IGHMBP2):c.2406A>G (p.Pro802=)
|
|
|
NM_002180.3(IGHMBP2):c.2409C>T (p.Ala803=)
|
|
|
NM_002180.3(IGHMBP2):c.2418G>A (p.Gln806=)
|
|
|
NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser)
|
rs1464851091
|
|
NM_002180.3(IGHMBP2):c.2427C>G (p.Pro809=)
|
rs1165471451
|
|
NM_002180.3(IGHMBP2):c.2427C>T (p.Pro809=)
|
|
|
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
|
rs1189538200
|
|
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)
|
rs1249076926
|
|
NM_002180.3(IGHMBP2):c.2433C>T (p.Thr811=)
|
rs915018099
|
|
NM_002180.3(IGHMBP2):c.2436del (p.Ala813fs)
|
rs1594456890
|
|
NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu)
|
rs779854653
|
|
NM_002180.3(IGHMBP2):c.2442G>A (p.Gln814=)
|
|
|
NM_002180.3(IGHMBP2):c.2445A>G (p.Thr815=)
|
|
|
NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln)
|
rs950453484
|
|
NM_002180.3(IGHMBP2):c.2448G>A (p.Glu816=)
|
rs1005880496
|
|
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=)
|
|
|
NM_002180.3(IGHMBP2):c.2466G>A (p.Gln822=)
|
|
|
NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=)
|
rs1241285720
|
|
NM_002180.3(IGHMBP2):c.2478C>T (p.Asp826=)
|
|
|
NM_002180.3(IGHMBP2):c.2496G>C (p.Thr832=)
|
rs756948501
|
|
NM_002180.3(IGHMBP2):c.250A>G (p.Thr84Ala)
|
rs2154006546
|
|
NM_002180.3(IGHMBP2):c.2513T>G (p.Leu838Arg)
|
rs755843076
|
|
NM_002180.3(IGHMBP2):c.2529C>T (p.Ser843=)
|
|
|
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2532G>C (p.Ala844=)
|
|
|
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs)
|
|
|
NM_002180.3(IGHMBP2):c.2538G>A (p.Gly846=)
|
|
|
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
|
rs1225532037
|
|
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=)
|
rs746248057
|
|
NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe)
|
|
|
NM_002180.3(IGHMBP2):c.2550C>T (p.Ser850=)
|
rs764637193
|
|
NM_002180.3(IGHMBP2):c.2556G>A (p.Glu852=)
|
|
|
NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg)
|
|
|
NM_002180.3(IGHMBP2):c.256+138A>G
|
|
|
NM_002180.3(IGHMBP2):c.256+14G>A
|
|
|
NM_002180.3(IGHMBP2):c.256+17C>T
|
|
|
NM_002180.3(IGHMBP2):c.256+20G>A
|
|
|
NM_002180.3(IGHMBP2):c.256+5G>C
|
|
|
NM_002180.3(IGHMBP2):c.256+7del
|
|
|
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)
|
rs750024353
|
|
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)
|
|
|
NM_002180.3(IGHMBP2):c.257-10G>C
|
|
|
NM_002180.3(IGHMBP2):c.257-11T>C
|
|
|
NM_002180.3(IGHMBP2):c.257-11T>G
|
|
|
NM_002180.3(IGHMBP2):c.257-17A>C
|
|
|
NM_002180.3(IGHMBP2):c.257-2A>G
|
rs1566424655
|
|
NM_002180.3(IGHMBP2):c.257-4G>A
|
rs1484354967
|
|
NM_002180.3(IGHMBP2):c.257-5T>C
|
rs2154006685
|
|
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)
|
rs1373247548
|
|
NM_002180.3(IGHMBP2):c.257G>A (p.Gly86Asp)
|
rs1594417834
|
|
NM_002180.3(IGHMBP2):c.2592G>T (p.Lys864Asn)
|
rs766051417
|
|
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)
|
rs886043774
|
|
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)
|
rs754422011
|
|
NM_002180.3(IGHMBP2):c.2599A>G (p.Lys867Glu)
|
rs753639706
|
|
NM_002180.3(IGHMBP2):c.2601A>G (p.Lys867=)
|
|
|
NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs)
|
|
|
NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup)
|
rs2154008959
|
|
NM_002180.3(IGHMBP2):c.2607C>A (p.Ala869=)
|
|
|
NM_002180.3(IGHMBP2):c.2607C>T (p.Ala869=)
|
|
|
NM_002180.3(IGHMBP2):c.2611+12A>G
|
rs2154008964
|
|
NM_002180.3(IGHMBP2):c.2611+14dup
|
|
|
NM_002180.3(IGHMBP2):c.2611+17G>C
|
|
|
NM_002180.3(IGHMBP2):c.2611+17_2611+19del
|
|
|
NM_002180.3(IGHMBP2):c.2611+1G>A
|
rs786205090
|
|
NM_002180.3(IGHMBP2):c.2611+20C>T
|
|
|
NM_002180.3(IGHMBP2):c.2611+7C>T
|
rs1343219004
|
|
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg)
|
rs1859576991
|
|
NM_002180.3(IGHMBP2):c.2612-10T>C
|
rs2154009107
|
|
NM_002180.3(IGHMBP2):c.2612-11G>A
|
|
|
NM_002180.3(IGHMBP2):c.2612-15dup
|
|
|
NM_002180.3(IGHMBP2):c.2612-20G>A
|
|
|
NM_002180.3(IGHMBP2):c.2612-4C>T
|
rs1859624339
|
|
NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala)
|
rs914944175
|
|
NM_002180.3(IGHMBP2):c.261T>C (p.Asp87=)
|
|
|
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met)
|
rs17612126
|
|
NM_002180.3(IGHMBP2):c.2637G>A (p.Thr879=)
|
|
|
NM_002180.3(IGHMBP2):c.264C>A (p.Ile88=)
|
|
|
NM_002180.3(IGHMBP2):c.264C>T (p.Ile88=)
|
|
|
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr)
|
rs1386297763
|
|
NM_002180.3(IGHMBP2):c.2683A>G (p.Asn895Asp)
|
rs886048607
|
|
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg)
|
rs1064796817
|
|
NM_002180.3(IGHMBP2):c.270C>T (p.Gly90=)
|
|
|
NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val)
|
|
|
NM_002180.3(IGHMBP2):c.2712C>T (p.Ala904=)
|
|
|
NM_002180.3(IGHMBP2):c.2736C>T (p.Phe912=)
|
|
|
NM_002180.3(IGHMBP2):c.273G>A (p.Leu91=)
|
|
|
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser)
|
rs145945230
|
|
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
|
rs145945230
|
|
NM_002180.3(IGHMBP2):c.2756G>A (p.Arg919His)
|
rs148605058
|
|
NM_002180.3(IGHMBP2):c.2760C>T (p.Tyr920=)
|
|
|
NM_002180.3(IGHMBP2):c.2766C>G (p.Leu922=)
|
|
|
NM_002180.3(IGHMBP2):c.2771A>C (p.His924Pro)
|
rs1566448570
|
|
NM_002180.3(IGHMBP2):c.2781C>T (p.Pro927=)
|
|
|
NM_002180.3(IGHMBP2):c.2784+15C>A
|
|
|
NM_002180.3(IGHMBP2):c.2784+7C>G
|
|
|
NM_002180.3(IGHMBP2):c.2784+8G>A
|
|
|
NM_002180.3(IGHMBP2):c.2785-13G>C
|
|
|
NM_002180.3(IGHMBP2):c.2785-13G>T
|
|
|
NM_002180.3(IGHMBP2):c.2785-14T>G
|
|
|
NM_002180.3(IGHMBP2):c.2785-19A>G
|
|
|
NM_002180.3(IGHMBP2):c.2785-3C>G
|
rs1859669997
|
|
NM_002180.3(IGHMBP2):c.2785-3C>T
|
rs1859669997
|
|
NM_002180.3(IGHMBP2):c.2785-4C>G
|
|
|
NM_002180.3(IGHMBP2):c.2785-4C>T
|
|
|
NM_002180.3(IGHMBP2):c.2785-6C>T
|
|
|
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
|
|
|
NM_002180.3(IGHMBP2):c.2785-8C>T
|
|
|
NM_002180.3(IGHMBP2):c.2785-9C>T
|
|
|
NM_002180.3(IGHMBP2):c.2787C>T (p.Ile929=)
|
|
|
NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr)
|
|
|
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg)
|
rs1594459783
|
|
NM_002180.3(IGHMBP2):c.2790T>C (p.His930=)
|
|
|
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs)
|
rs2154009273
|
|
NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys)
|
|
|
NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs)
|
|
|
NM_002180.3(IGHMBP2):c.2811C>T (p.Arg937=)
|
|
|
NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg)
|
rs751847212
|
|
NM_002180.3(IGHMBP2):c.2817T>C (p.His939=)
|
|
|
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr)
|
rs757839224
|
|
NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=)
|
rs557641477
|
|
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)
|
|
|
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
|
rs1859672618
|
|
NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly)
|
|
|
NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs)
|
|
|
NM_002180.3(IGHMBP2):c.2850C>T (p.Leu950=)
|
|
|
NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys)
|
|
|
NM_002180.3(IGHMBP2):c.2856C>A (p.Ala952=)
|
rs759627672
|
|
NM_002180.3(IGHMBP2):c.2857G>T (p.Gly953Cys)
|
rs775514650
|
|
NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val)
|
rs1859674357
|
|
NM_002180.3(IGHMBP2):c.2859C>T (p.Gly953=)
|
|
|
NM_002180.3(IGHMBP2):c.285T>C (p.Ala95=)
|
|
|
NM_002180.3(IGHMBP2):c.2861G>A (p.Ser954Asn)
|
rs2154009288
|
|
NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2863G>C (p.Gly955Arg)
|
rs764208218
|
|
NM_002180.3(IGHMBP2):c.2868C>G (p.Thr956=)
|
|
|
NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=)
|
rs752024072
|
|
NM_002180.3(IGHMBP2):c.2870A>G (p.Lys957Arg)
|
rs572019890
|
|
NM_002180.3(IGHMBP2):c.2880C>G (p.Ser960=)
|
|
|
NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs)
|
|
|
NM_002180.3(IGHMBP2):c.2892C>G (p.Ala964=)
|
|
|
NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2901C>T (p.Ala967=)
|
rs2154009296
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002180.3(IGHMBP2):c.2919G>A (p.Leu973=)
|
|
|
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
|
rs1858277137
|
|
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)
|
rs1131691657
|
|
NM_002180.3(IGHMBP2):c.2937G>A (p.Glu979=)
|
|
|
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys)
|
rs865849237
|
|
NM_002180.3(IGHMBP2):c.2946C>T (p.Asn982=)
|
|
|
NM_002180.3(IGHMBP2):c.2954C>G (p.Thr985Ser)
|
rs2154009308
|
|
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp)
|
rs1440519538
|
|
NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys)
|
|
|
NM_002180.3(IGHMBP2):c.2964G>A (p.Arg988=)
|
|
|
NM_002180.3(IGHMBP2):c.2975G>A (p.Gly992Glu)
|
rs886048608
|
|
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val)
|
rs886048608
|
|
NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro)
|
rs1271968797
|
|
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)
|
rs886037759
|
|
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=)
|
rs1281690554
|
|
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
|
rs1858278685
|
|
NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs)
|
|
|
NM_002180.3(IGHMBP2):c.318G>A (p.Leu106=)
|
|
|
NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser)
|
rs767244307
|
|
NM_002180.3(IGHMBP2):c.324G>A (p.Arg108=)
|
rs2154006693
|
|
NM_002180.3(IGHMBP2):c.333G>C (p.Gln111His)
|
rs1858279805
|
|
NM_002180.3(IGHMBP2):c.333G>T (p.Gln111His)
|
rs1858279805
|
|
NM_002180.3(IGHMBP2):c.34_35insCC (p.Lys12fs)
|
rs1858067021
|
|
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=)
|
rs1858280736
|
|
NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr)
|
rs1858281719
|
|
NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn)
|
|
|
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn)
|
rs1004055119
|
|
NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His)
|
rs1004055119
|
|
NM_002180.3(IGHMBP2):c.36G>A (p.Lys12=)
|
|
|
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter)
|
rs1015531394
|
|
NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His)
|
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=)
|
|
|
NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=)
|
|
|
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)
|
|
|
NM_002180.3(IGHMBP2):c.435C>T (p.Tyr145=)
|
|
|
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=)
|
rs1594418098
|
|
NM_002180.3(IGHMBP2):c.441A>T (p.Arg147=)
|
|
|
NM_002180.3(IGHMBP2):c.447A>G (p.Lys149=)
|
|
|
NM_002180.3(IGHMBP2):c.449+13G>A
|
|
|
NM_002180.3(IGHMBP2):c.449+17G>A
|
|
|
NM_002180.3(IGHMBP2):c.449+1G>A
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.449+1G>T
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.449+2T>A
|
|
|
NM_002180.3(IGHMBP2):c.449+2del
|
|
|
NM_002180.3(IGHMBP2):c.449+8G>C
|
|
|
NM_002180.3(IGHMBP2):c.450-17G>C
|
|
|
NM_002180.3(IGHMBP2):c.453C>A (p.Ala151=)
|
|
|
NM_002180.3(IGHMBP2):c.463C>T (p.Leu155=)
|
|
|
NM_002180.3(IGHMBP2):c.464T>A (p.Leu155Gln)
|
rs1594418365
|
|
NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro)
|
rs1594418365
|
|
NM_002180.3(IGHMBP2):c.467del (p.Lys156fs)
|
rs2154006724
|
|
NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)
|
|
|
NM_002180.3(IGHMBP2):c.46C>T (p.Leu16=)
|
|
|
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
|
rs1858294631
|
|
NM_002180.3(IGHMBP2):c.480T>C (p.Ser160=)
|
|
|
NM_002180.3(IGHMBP2):c.486A>G (p.Pro162=)
|
|
|
NM_002180.3(IGHMBP2):c.489C>T (p.Ala163=)
|
rs1858295479
|
|
NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer)
|
|
|
NM_002180.3(IGHMBP2):c.498C>G (p.Leu166=)
|
|
|
NM_002180.3(IGHMBP2):c.498C>T (p.Leu166=)
|
|
|
NM_002180.3(IGHMBP2):c.516C>A (p.Gly172=)
|
|
|
NM_002180.3(IGHMBP2):c.516C>T (p.Gly172=)
|
|
|
NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe)
|
|
|
NM_002180.3(IGHMBP2):c.531T>C (p.Ser177=)
|
rs779086573
|
|
NM_002180.3(IGHMBP2):c.532C>G (p.Pro178Ala)
|
rs1566425176
|
|
NM_002180.3(IGHMBP2):c.532C>T (p.Pro178Ser)
|
rs1566425176
|
|
NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly)
|
|
|
NM_002180.3(IGHMBP2):c.547+11C>T
|
|
|
NM_002180.3(IGHMBP2):c.547+15G>A
|
|
|
NM_002180.3(IGHMBP2):c.547+19T>C
|
|
|
NM_002180.3(IGHMBP2):c.547+20C>G
|
|
|
NM_002180.3(IGHMBP2):c.547+20C>T
|
|
|
NM_002180.3(IGHMBP2):c.548-12C>T
|
rs1858429648
|
|
NM_002180.3(IGHMBP2):c.548-13G>A
|
|
|
NM_002180.3(IGHMBP2):c.548-9C>T
|
|
|
NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg)
|
|
|
NM_002180.3(IGHMBP2):c.552G>A (p.Pro184=)
|
rs755103682
|
|
NM_002180.3(IGHMBP2):c.553C>T (p.Leu185=)
|
|
|
NM_002180.3(IGHMBP2):c.574C>T (p.Leu192=)
|
|
|
NM_002180.3(IGHMBP2):c.575T>C (p.Leu192Pro)
|
rs879253996
|
|
NM_002180.3(IGHMBP2):c.582C>A (p.Thr194=)
|
|
|
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)
|
|
|
NM_002180.3(IGHMBP2):c.587A>G (p.Gln196Arg)
|
rs1594422506
|
|
NM_002180.3(IGHMBP2):c.588G>A (p.Gln196=)
|
|
|
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
|
rs1280728139
|
|
NM_002180.3(IGHMBP2):c.595G>C (p.Ala199Pro)
|
rs1594422527
|
|
NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile)
|
rs369509318
|
|
NM_002180.3(IGHMBP2):c.612G>A (p.Leu204=)
|
|
|
NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro)
|
|
|
NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg)
|
|
|
NM_002180.3(IGHMBP2):c.633C>T (p.Ile211=)
|
|
|
NM_002180.3(IGHMBP2):c.636C>A (p.Ile212=)
|
|
|
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
|
|
|
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)
|
rs137852666
|
|
NM_002180.3(IGHMBP2):c.641G>C (p.Gly214Ala)
|
rs1566427330
|
|
NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg)
|
rs752135303
|
|
NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr)
|
rs771853806
|
|
NM_002180.3(IGHMBP2):c.653del (p.Thr218fs)
|
|
|
NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg)
|
rs1555243301
|
|
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn)
|
rs863224881
|
|
NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn)
|
|
|
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs)
|
rs779716706
|
|
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
|
rs1858437723
|
|
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
|
rs1858438320
|
|
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs)
|
rs786205089
|
|
NM_002180.3(IGHMBP2):c.676G>T (p.Glu226Ter)
|
rs1594422731
|
|
NM_002180.3(IGHMBP2):c.678G>C (p.Glu226Asp)
|
rs1594422735
|
|
NM_002180.3(IGHMBP2):c.686T>G (p.Leu229Arg)
|
rs2154006946
|
|
NM_002180.3(IGHMBP2):c.688C>G (p.Gln230Glu)
|
rs1555243325
|
|
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)
|
|
|
NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs)
|
rs2154006948
|
|
NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys)
|
|
|
NM_002180.3(IGHMBP2):c.711+12A>C
|
rs2154006952
|
|
NM_002180.3(IGHMBP2):c.711+15C>T
|
rs963088351
|
|
NM_002180.3(IGHMBP2):c.711+16C>T
|
|
|
NM_002180.3(IGHMBP2):c.711+17A>G
|
|
|
NM_002180.3(IGHMBP2):c.711+1G>A
|
|
|
NM_002180.3(IGHMBP2):c.712-10C>T
|
|
|
NM_002180.3(IGHMBP2):c.712-13T>C
|
|
|
NM_002180.3(IGHMBP2):c.712-18C>T
|
|
|
NM_002180.3(IGHMBP2):c.712-5C>T
|
|
|
NM_002180.3(IGHMBP2):c.712-9G>C
|
|
|
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val)
|
rs1858583764
|
|
NM_002180.3(IGHMBP2):c.717G>A (p.Leu239=)
|
|
|
NM_002180.3(IGHMBP2):c.720C>T (p.Cys240=)
|
|
|
NM_002180.3(IGHMBP2):c.723C>T (p.Cys241=)
|
|
|
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=)
|
rs76690064
|
|
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=)
|
rs76690064
|
|
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
|
rs1858584931
|
|
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)
|
rs1594427410
|
|
NM_002180.3(IGHMBP2):c.72G>A (p.Glu24=)
|
|
|
NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala)
|
rs775600808
|
|
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr)
|
rs1555243999
|
|
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)
|
rs1555243999
|
|
NM_002180.3(IGHMBP2):c.738C>T (p.Ile246=)
|
|
|
NM_002180.3(IGHMBP2):c.745G>A (p.Asp249Asn)
|
|
|
NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly)
|
|
|
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met)
|
rs1284064613
|
|
NM_002180.3(IGHMBP2):c.756G>A (p.Val252=)
|
|
|
NM_002180.3(IGHMBP2):c.759G>A (p.Glu253=)
|
|
|
NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs)
|
rs2154007211
|
|
NM_002180.3(IGHMBP2):c.772T>C (p.Cys258Arg)
|
rs1566430083
|
|
NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)
|
rs1594427564
|
|
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.792C>G (p.Arg264=)
|
|
|
NM_002180.3(IGHMBP2):c.797del (p.Gly266fs)
|
|
|
NM_002180.3(IGHMBP2):c.813C>A (p.Leu271=)
|
rs199619824
|
|
NM_002180.3(IGHMBP2):c.813C>G (p.Leu271=)
|
|
|
NM_002180.3(IGHMBP2):c.81G>A (p.Glu27=)
|
|
|
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)
|
rs1566430156
|
|
NM_002180.3(IGHMBP2):c.838C>T (p.Leu280=)
|
rs2154007218
|
|
NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr)
|
rs2154007219
|
|
NM_002180.3(IGHMBP2):c.846G>A (p.Ala282=)
|
|
|
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile)
|
rs2154007221
|
|
NM_002180.3(IGHMBP2):c.849T>C (p.Val283=)
|
|
|
NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=)
|
|
|
NM_002180.3(IGHMBP2):c.86+19G>T
|
|
|
NM_002180.3(IGHMBP2):c.86+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.86+7G>A
|
|
|
NM_002180.3(IGHMBP2):c.86+7G>C
|
rs527948004
|
|
NM_002180.3(IGHMBP2):c.86+9G>A
|
|
|
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)
|
rs564645287
|
|
NM_002180.3(IGHMBP2):c.861C>T (p.Ser287=)
|
rs564645287
|
|
NM_002180.3(IGHMBP2):c.867T>C (p.Ser289=)
|
|
|
NM_002180.3(IGHMBP2):c.87-11G>A
|
|
|
NM_002180.3(IGHMBP2):c.87-11G>C
|
|
|
NM_002180.3(IGHMBP2):c.87-12G>A
|
|
|
NM_002180.3(IGHMBP2):c.87-13G>C
|
|
|
NM_002180.3(IGHMBP2):c.87-14C>G
|
|
|
NM_002180.3(IGHMBP2):c.87-20C>A
|
|
|
NM_002180.3(IGHMBP2):c.87-9G>A
|
|
|
NM_002180.3(IGHMBP2):c.870C>G (p.Ala290=)
|
|
|
NM_002180.3(IGHMBP2):c.879T>C (p.Val293=)
|
|
|
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
|
rs759987473
|
|
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr)
|
rs375554721
|
|
NM_002180.3(IGHMBP2):c.891del (p.Lys298fs)
|
|
|
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
|
rs763867470
|
|
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
|
|
|
NM_002180.3(IGHMBP2):c.900C>T (p.Ile300=)
|
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_002180.3(IGHMBP2):c.905_912+85del
|
|
|
NM_002180.3(IGHMBP2):c.912+10A>G
|
|
|
NM_002180.3(IGHMBP2):c.912+11T>C
|
|
|
NM_002180.3(IGHMBP2):c.912+13G>A
|
|
|
NM_002180.3(IGHMBP2):c.912+18T>C
|
|
|
NM_002180.3(IGHMBP2):c.912+4G>A
|
rs758392980
|
|
NM_002180.3(IGHMBP2):c.912+4G>C
|
|
|
NM_002180.3(IGHMBP2):c.913-10T>C
|
|
|
NM_002180.3(IGHMBP2):c.913-19C>G
|
|
|
NM_002180.3(IGHMBP2):c.913-6T>A
|
rs2154007472
|
|
NM_002180.3(IGHMBP2):c.913-8C>G
|
|
|
NM_002180.3(IGHMBP2):c.915G>C (p.Val305=)
|
|
|
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln)
|
rs201177129
|
|
NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met)
|
|
|
NM_002180.3(IGHMBP2):c.927G>A (p.Lys309=)
|
rs1858724192
|
|
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn)
|
rs1858724192
|
|
NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser)
|
rs747287368
|
|
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)
|
rs863224880
|
|
NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer)
|
|
|
NM_002180.3(IGHMBP2):c.94C>T (p.Gln32Ter)
|
rs1566423140
|
|
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala)
|
rs1858726463
|
|
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)
|
rs746581714
|
|
NM_002180.3(IGHMBP2):c.987A>G (p.Glu329=)
|
|
|
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=)
|
rs1594431729
|
|
NM_002180.3(IGHMBP2):c.996G>A (p.Glu332=)
|
|
|
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)
|
rs759353094
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
NM_002937.5(RNASE4):c.-114G>C
|
rs886050397
|
|
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[27_33] (p.6Gln[27_33])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_003334.4(UBA1):c.-45C>T
|
rs1936108999
|
|
NM_003334.4(UBA1):c.1011C>G (p.His337Gln)
|
rs1044559809
|
|
NM_003334.4(UBA1):c.1027C>T (p.His343Tyr)
|
rs1936453274
|
|
NM_003334.4(UBA1):c.1038A>G (p.Pro346=)
|
rs1936453717
|
|
NM_003334.4(UBA1):c.1041T>A (p.Pro347=)
|
rs2147259947
|
|
NM_003334.4(UBA1):c.1042C>T (p.Arg348Trp)
|
|
|
NM_003334.4(UBA1):c.1043G>A (p.Arg348Gln)
|
|
|
NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys)
|
rs1556788657
|
|
NM_003334.4(UBA1):c.1054G>A (p.Glu352Lys)
|
rs2147260047
|
|
NM_003334.4(UBA1):c.1056+20A>G
|
|
|
NM_003334.4(UBA1):c.105G>A (p.Ser35=)
|
rs782781187
|
|
NM_003334.4(UBA1):c.106G>A (p.Val36Met)
|
rs990805894
|
|
NM_003334.4(UBA1):c.1089G>T (p.Gln363His)
|
|
|
NM_003334.4(UBA1):c.1090G>A (p.Ala364Thr)
|
|
|
NM_003334.4(UBA1):c.1094T>C (p.Val365Ala)
|
rs2147260730
|
|
NM_003334.4(UBA1):c.1114G>A (p.Ala372Thr)
|
rs2147260791
|
|
NM_003334.4(UBA1):c.1115C>G (p.Ala372Gly)
|
|
|
NM_003334.4(UBA1):c.1115C>T (p.Ala372Val)
|
rs782051479
|
|
NM_003334.4(UBA1):c.1131C>G (p.Asn377Lys)
|
rs1936465009
|
|
NM_003334.4(UBA1):c.1138G>A (p.Glu380Lys)
|
|
|
NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr)
|
rs1556788813
|
|
NM_003334.4(UBA1):c.1163A>G (p.Tyr388Cys)
|
|
|
NM_003334.4(UBA1):c.117C>T (p.Asn39=)
|
|
|
NM_003334.4(UBA1):c.118-10C>G
|
|
|
NM_003334.4(UBA1):c.118-11_118-3del
|
rs2147250233
|
|
NM_003334.4(UBA1):c.118-1G>C
|
rs2147250287
|
|
NM_003334.4(UBA1):c.118-2A>C
|
rs2147250283
|
|
NM_003334.4(UBA1):c.1194C>T (p.Asn398=)
|
rs782489931
|
|
NM_003334.4(UBA1):c.1218C>T (p.Ala406=)
|
rs2147261112
|
|
NM_003334.4(UBA1):c.121A>C (p.Met41Leu)
|
rs1936307795
|
|
NM_003334.4(UBA1):c.121A>G (p.Met41Val)
|
rs1936307795
|
|
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)
|
rs782416867
|
|
NM_003334.4(UBA1):c.1233+15G>A
|
|
|
NM_003334.4(UBA1):c.1233+20G>C
|
|
|
NM_003334.4(UBA1):c.1233+9G>A
|
|
|
NM_003334.4(UBA1):c.1234-18C>T
|
|
|
NM_003334.4(UBA1):c.1234-19_1234-16del
|
|
|
NM_003334.4(UBA1):c.1252A>G (p.Met418Val)
|
|
|
NM_003334.4(UBA1):c.1278T>C (p.Phe426=)
|
|
|
NM_003334.4(UBA1):c.1281T>C (p.Asp427=)
|
rs2147261868
|
|
NM_003334.4(UBA1):c.1288G>C (p.Glu430Gln)
|
|
|
NM_003334.4(UBA1):c.1292G>C (p.Cys431Ser)
|
rs1936478450
|
|
NM_003334.4(UBA1):c.1313T>G (p.Val438Gly)
|
rs1936479502
|
|
NM_003334.4(UBA1):c.1338+15C>T
|
|
|
NM_003334.4(UBA1):c.1339-17C>T
|
|
|
NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)
|
|
|
NM_003334.4(UBA1):c.1377C>T (p.Gly459=)
|
rs2147262470
|
|
NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)
|
|
|
NM_003334.4(UBA1):c.1392G>A (p.Glu464=)
|
|
|
NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn)
|
rs782565391
|
|
NM_003334.4(UBA1):c.1420-18T>C
|
rs372944361
|
|
NM_003334.4(UBA1):c.1420-18T>G
|
rs372944361
|
|
NM_003334.4(UBA1):c.1420-5C>T
|
|
|
NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)
|
|
|
NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr)
|
rs1602635435
|
|
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)
|
|
|
NM_003334.4(UBA1):c.1516G>A (p.Asp506Asn)
|
rs2147263751
|
|
NM_003334.4(UBA1):c.1533A>G (p.Ser511=)
|
rs2147263778
|
|
NM_003334.4(UBA1):c.153C>T (p.Asp51=)
|
|
|
NM_003334.4(UBA1):c.1569T>C (p.Asp523=)
|
rs1602635564
|
|
NM_003334.4(UBA1):c.1575+9G>C
|
|
|
NM_003334.4(UBA1):c.1575G>A (p.Thr525=)
|
|
|
NM_003334.4(UBA1):c.1592C>T (p.Thr531Met)
|
|
|
NM_003334.4(UBA1):c.15G>A (p.Pro5=)
|
|
|
NM_003334.4(UBA1):c.1612C>A (p.Gln538Lys)
|
|
|
NM_003334.4(UBA1):c.1617G>A (p.Met539Ile)
|
rs80356545
|
|
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)
|
rs80356545
|
|
NM_003334.4(UBA1):c.1630C>T (p.Arg544Trp)
|
rs1936658933
|
|
NM_003334.4(UBA1):c.1631G>A (p.Arg544Gln)
|
rs1556790802
|
|
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)
|
rs80356546
|
|
NM_003334.4(UBA1):c.1668G>A (p.Thr556=)
|
|
|
NM_003334.4(UBA1):c.1673G>A (p.Arg558His)
|
rs782746954
|
|
NM_003334.4(UBA1):c.167C>T (p.Ser56Phe)
|
rs2147250370
|
|
NM_003334.4(UBA1):c.1686C>T (p.Asp562=)
|
|
|
NM_003334.4(UBA1):c.1687G>T (p.Asp563Tyr)
|
rs2147273137
|
|
NM_003334.4(UBA1):c.1695C>T (p.Phe565=)
|
rs782804501
|
|
NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser)
|
rs1556790852
|
|
NM_003334.4(UBA1):c.1731C>T (p.Asn577=)
|
rs80356547
|
|
NM_003334.4(UBA1):c.1741+15G>A
|
|
|
NM_003334.4(UBA1):c.1741+20A>G
|
|
|
NM_003334.4(UBA1):c.1742-19C>T
|
|
|
NM_003334.4(UBA1):c.1742-3C>T
|
|
|
NM_003334.4(UBA1):c.177-13C>T
|
|
|
NM_003334.4(UBA1):c.1800A>G (p.Thr600=)
|
rs1233003223
|
|
NM_003334.4(UBA1):c.1836C>G (p.Pro612=)
|
|
|
NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys)
|
rs1556791125
|
|
NM_003334.4(UBA1):c.1858T>C (p.Ser620Pro)
|
|
|
NM_003334.4(UBA1):c.1859C>G (p.Ser620Cys)
|
|
|
NM_003334.4(UBA1):c.1920C>T (p.Ala640=)
|
|
|
NM_003334.4(UBA1):c.1921A>G (p.Ile641Val)
|
|
|
NM_003334.4(UBA1):c.1923C>T (p.Ile641=)
|
|
|
NM_003334.4(UBA1):c.1939-10C>G
|
|
|
NM_003334.4(UBA1):c.1939-11_1939-3del
|
rs1936835385
|
|
NM_003334.4(UBA1):c.1939-14_1939-13delinsAT
|
|
|
NM_003334.4(UBA1):c.1939-18T>C
|
|
|
NM_003334.4(UBA1):c.1953G>C (p.Glu651Asp)
|
rs2147286332
|
|
NM_003334.4(UBA1):c.195G>C (p.Glu65Asp)
|
rs1936314065
|
|
NM_003334.4(UBA1):c.1963C>A (p.Leu655Ile)
|
|
|
NM_003334.4(UBA1):c.2003+10T>C
|
|
|
NM_003334.4(UBA1):c.2003+11C>T
|
|
|
NM_003334.4(UBA1):c.2003+22_2003+23del
|
rs782114592
|
|
NM_003334.4(UBA1):c.2004-6T>C
|
|
|
NM_003334.4(UBA1):c.2045C>G (p.Thr682Ser)
|
|
|
NM_003334.4(UBA1):c.2059G>A (p.Val687Met)
|
rs1298433365
|
|
NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)
|
|
|
NM_003334.4(UBA1):c.2071G>C (p.Val691Leu)
|
|
|
NM_003334.4(UBA1):c.2077C>T (p.Arg693Cys)
|
|
|
NM_003334.4(UBA1):c.2078G>A (p.Arg693His)
|
|
|
NM_003334.4(UBA1):c.2094G>A (p.Gln698=)
|
rs1556792871
|
|
NM_003334.4(UBA1):c.2094G>T (p.Gln698His)
|
rs1556792871
|
|
NM_003334.4(UBA1):c.2096G>A (p.Arg699Gln)
|
|
|
NM_003334.4(UBA1):c.2106C>G (p.Thr702=)
|
rs1936856451
|
|
NM_003334.4(UBA1):c.2119G>A (p.Val707Met)
|
|
|
NM_003334.4(UBA1):c.2124C>T (p.Thr708=)
|
rs2147287638
|
|
NM_003334.4(UBA1):c.2130C>A (p.Ala710=)
|
rs782185391
|
|
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)
|
|
|
NM_003334.4(UBA1):c.2169G>T (p.Arg723=)
|
|
|
NM_003334.4(UBA1):c.2199+17G>C
|
|
|
NM_003334.4(UBA1):c.2199+8C>T
|
|
|
NM_003334.4(UBA1):c.2219C>T (p.Pro740Leu)
|
|
|
NM_003334.4(UBA1):c.2239C>T (p.Arg747Cys)
|
rs1936887844
|
|
NM_003334.4(UBA1):c.2247A>C (p.Pro749=)
|
|
|
NM_003334.4(UBA1):c.2247A>G (p.Pro749=)
|
|
|
NM_003334.4(UBA1):c.2250C>T (p.His750=)
|
|
|
NM_003334.4(UBA1):c.2252C>T (p.Pro751Leu)
|
rs1936888439
|
|
NM_003334.4(UBA1):c.2273A>G (p.Asn758Ser)
|
|
|
NM_003334.4(UBA1):c.2274+10C>T
|
|
|
NM_003334.4(UBA1):c.2274+10_2274+14del
|
|
|
NM_003334.4(UBA1):c.2274+14C>G
|
|
|
NM_003334.4(UBA1):c.2274+14C>T
|
|
|
NM_003334.4(UBA1):c.2275-17G>A
|
|
|
NM_003334.4(UBA1):c.2340C>T (p.Gly780=)
|
|
|
NM_003334.4(UBA1):c.2365A>G (p.Thr789Ala)
|
|
|
NM_003334.4(UBA1):c.2388C>A (p.Val796=)
|
|
|
NM_003334.4(UBA1):c.2408C>T (p.Ser803Phe)
|
|
|
NM_003334.4(UBA1):c.2413G>A (p.Val805Ile)
|
|
|
NM_003334.4(UBA1):c.241C>T (p.Arg81Trp)
|
rs1168231329
|
|
NM_003334.4(UBA1):c.2424T>C (p.His808=)
|
rs1936899956
|
|
NM_003334.4(UBA1):c.2433C>T (p.Asp811=)
|
|
|
NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp)
|
rs1569216553
|
|
NM_003334.4(UBA1):c.2455_2456delinsAT (p.Ala819Ile)
|
|
|
NM_003334.4(UBA1):c.2464+6_2464+9del
|
rs1175155400
|
|
NM_003334.4(UBA1):c.2464+7G>T
|
|
|
NM_003334.4(UBA1):c.2465-5T>C
|
|
|
NM_003334.4(UBA1):c.246C>T (p.Gly82=)
|
rs782336458
|
|
NM_003334.4(UBA1):c.2484G>A (p.Glu828=)
|
|
|
NM_003334.4(UBA1):c.2492C>T (p.Ala831Val)
|
|
|
NM_003334.4(UBA1):c.2554-6T>A
|
|
|
NM_003334.4(UBA1):c.2554-6_2554-5del
|
|
|
NM_003334.4(UBA1):c.2595A>T (p.Ala865=)
|
rs139492208
|
|
NM_003334.4(UBA1):c.2604C>G (p.Leu868=)
|
|
|
NM_003334.4(UBA1):c.261C>T (p.Ile87=)
|
|
|
NM_003334.4(UBA1):c.2621A>C (p.Asp874Ala)
|
|
|
NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu)
|
rs1556793890
|
|
NM_003334.4(UBA1):c.2638C>T (p.Arg880Trp)
|
|
|
NM_003334.4(UBA1):c.2646+11T>A
|
rs367788670
|
|
NM_003334.4(UBA1):c.2646+11T>C
|
rs367788670
|
|
NM_003334.4(UBA1):c.2646+19_2646+20del
|
|
|
NM_003334.4(UBA1):c.2647-9_2647-6del
|
rs1173482035
|
|
NM_003334.4(UBA1):c.264T>C (p.Ala88=)
|
|
|
NM_003334.4(UBA1):c.2653C>A (p.Leu885Met)
|
rs782087876
|
|
NM_003334.4(UBA1):c.2679C>A (p.Ala893=)
|
|
|
NM_003334.4(UBA1):c.2685C>T (p.Ala895=)
|
|
|
NM_003334.4(UBA1):c.2700C>T (p.Ala900=)
|
|
|
NM_003334.4(UBA1):c.2701G>A (p.Val901Met)
|
|
|
NM_003334.4(UBA1):c.2745G>T (p.Gly915=)
|
rs2147297953
|
|
NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu)
|
rs782409785
|
|
NM_003334.4(UBA1):c.2778C>T (p.Phe926=)
|
rs2147298051
|
|
NM_003334.4(UBA1):c.2793G>A (p.Leu931=)
|
rs782340410
|
|
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)
|
|
|
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys)
|
rs1556794074
|
|
NM_003334.4(UBA1):c.2838+16C>T
|
|
|
NM_003334.4(UBA1):c.2838+7del
|
rs1057515899
|
|
NM_003334.4(UBA1):c.2838+8C>T
|
rs782075261
|
|
NM_003334.4(UBA1):c.2839-13_2839-12del
|
|
|
NM_003334.4(UBA1):c.2839-20C>A
|
|
|
NM_003334.4(UBA1):c.2839-3C>T
|
rs1937056868
|
|
NM_003334.4(UBA1):c.2839-4G>A
|
|
|
NM_003334.4(UBA1):c.2841C>T (p.Tyr947=)
|
|
|
NM_003334.4(UBA1):c.2859A>G (p.Thr953=)
|
|
|
NM_003334.4(UBA1):c.2889G>T (p.Leu963=)
|
rs2147303075
|
|
NM_003334.4(UBA1):c.2897A>C (p.Asn966Thr)
|
|
|
NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)
|
|
|
NM_003334.4(UBA1):c.2964C>G (p.Thr988=)
|
|
|
NM_003334.4(UBA1):c.2987T>A (p.Met996Lys)
|
rs1602662535
|
|
NM_003334.4(UBA1):c.3008C>T (p.Pro1003Leu)
|
rs2147304012
|
|
NM_003334.4(UBA1):c.3074G>A (p.Arg1025Gln)
|
|
|
NM_003334.4(UBA1):c.3090C>T (p.His1030=)
|
|
|
NM_003334.4(UBA1):c.3091G>A (p.Val1031Met)
|
|
|
NM_003334.4(UBA1):c.3091G>T (p.Val1031Leu)
|
|
|
NM_003334.4(UBA1):c.3095G>A (p.Arg1032Gln)
|
|
|
NM_003334.4(UBA1):c.3135C>A (p.Gly1045=)
|
rs2147305266
|
|
NM_003334.4(UBA1):c.3138G>A (p.Glu1046=)
|
rs2147305287
|
|
NM_003334.4(UBA1):c.3144C>T (p.Val1048=)
|
|
|
NM_003334.4(UBA1):c.3173G>A (p.Arg1058His)
|
rs374092856
|
|
NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)
|
|
|
NM_003334.4(UBA1):c.345+11C>T
|
|
|
NM_003334.4(UBA1):c.345+20T>C
|
|
|
NM_003334.4(UBA1):c.345+20_345+23del
|
|
|
NM_003334.4(UBA1):c.345+29_345+36del
|
|
|
NM_003334.4(UBA1):c.346-16C>T
|
|
|
NM_003334.4(UBA1):c.347T>G (p.Phe116Cys)
|
|
|
NM_003334.4(UBA1):c.356G>A (p.Arg119Gln)
|
rs1556786841
|
|
NM_003334.4(UBA1):c.367A>G (p.Ile123Val)
|
|
|
NM_003334.4(UBA1):c.369C>T (p.Ile123=)
|
rs200892576
|
|
NM_003334.4(UBA1):c.377A>G (p.Asn126Ser)
|
rs781821596
|
|
NM_003334.4(UBA1):c.384C>G (p.Ala128=)
|
rs782618684
|
|
NM_003334.4(UBA1):c.384C>T (p.Ala128=)
|
|
|
NM_003334.4(UBA1):c.405C>T (p.Leu135=)
|
|
|
NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)
|
|
|
NM_003334.4(UBA1):c.406G>T (p.Ala136Ser)
|
rs1159180530
|
|
NM_003334.4(UBA1):c.430G>A (p.Val144Ile)
|
rs781887272
|
|
NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)
|
|
|
NM_003334.4(UBA1):c.454G>A (p.Val152Ile)
|
|
|
NM_003334.4(UBA1):c.480+9G>A
|
|
|
NM_003334.4(UBA1):c.484G>T (p.Val162Leu)
|
|
|
NM_003334.4(UBA1):c.500C>T (p.Thr167Ile)
|
rs1936389956
|
|
NM_003334.4(UBA1):c.501C>T (p.Thr167=)
|
rs782020007
|
|
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
|
|
|
NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)
|
|
|
NM_003334.4(UBA1):c.540C>T (p.His180=)
|
rs1602629095
|
|
NM_003334.4(UBA1):c.545G>A (p.Arg182His)
|
|
|
NM_003334.4(UBA1):c.54G>T (p.Lys18Asn)
|
|
|
NM_003334.4(UBA1):c.559G>T (p.Val187Leu)
|
rs1556787682
|
|
NM_003334.4(UBA1):c.56C>T (p.Pro19Leu)
|
|
|
NM_003334.4(UBA1):c.572C>T (p.Thr191Met)
|
|
|
NM_003334.4(UBA1):c.574C>A (p.Arg192=)
|
rs185589110
|
|
NM_003334.4(UBA1):c.57G>A (p.Pro19=)
|
|
|
NM_003334.4(UBA1):c.587+21del
|
|
|
NM_003334.4(UBA1):c.587+3G>A
|
rs782499064
|
|
NM_003334.4(UBA1):c.588-13C>T
|
|
|
NM_003334.4(UBA1):c.588-20C>T
|
|
|
NM_003334.4(UBA1):c.588-4A>C
|
|
|
NM_003334.4(UBA1):c.588-7T>C
|
rs1428822064
|
|
NM_003334.4(UBA1):c.613G>A (p.Glu205Lys)
|
rs1936409583
|
|
NM_003334.4(UBA1):c.632C>G (p.Ser211Cys)
|
rs1936410112
|
|
NM_003334.4(UBA1):c.636T>C (p.Asn212=)
|
|
|
NM_003334.4(UBA1):c.64A>G (p.Asn22Asp)
|
|
|
NM_003334.4(UBA1):c.658A>G (p.Met220Val)
|
|
|
NM_003334.4(UBA1):c.667A>G (p.Met223Val)
|
|
|
NM_003334.4(UBA1):c.669G>A (p.Met223Ile)
|
|
|
NM_003334.4(UBA1):c.678+4A>T
|
|
|
NM_003334.4(UBA1):c.678+6G>A
|
|
|
NM_003334.4(UBA1):c.679-16C>G
|
|
|
NM_003334.4(UBA1):c.683A>C (p.Asn228Thr)
|
rs1936415717
|
|
NM_003334.4(UBA1):c.683A>G (p.Asn228Ser)
|
rs1936415717
|
|
NM_003334.4(UBA1):c.72C>T (p.Ser24=)
|
|
|
NM_003334.4(UBA1):c.746C>T (p.Ser249Phe)
|
rs782434472
|
|
NM_003334.4(UBA1):c.750T>C (p.Phe250=)
|
rs1936417887
|
|
NM_003334.4(UBA1):c.757G>A (p.Val253Ile)
|
|
|
NM_003334.4(UBA1):c.75T>G (p.Pro25=)
|
|
|
NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)
|
|
|
NM_003334.4(UBA1):c.779A>G (p.Asn260Ser)
|
|
|
NM_003334.4(UBA1):c.786T>C (p.Asn262=)
|
|
|
NM_003334.4(UBA1):c.790C>G (p.Pro264Ala)
|
|
|
NM_003334.4(UBA1):c.793A>G (p.Met265Val)
|
rs1936419804
|
|
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)
|
|
|
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)
|
rs781996319
|
|
NM_003334.4(UBA1):c.811+17G>A
|
|
|
NM_003334.4(UBA1):c.811+18G>C
|
rs2147257670
|
|
NM_003334.4(UBA1):c.822C>T (p.Thr274=)
|
|
|
NM_003334.4(UBA1):c.829A>G (p.Ile277Val)
|
|
|
NM_003334.4(UBA1):c.840C>G (p.Thr280=)
|
|
|
NM_003334.4(UBA1):c.840C>T (p.Thr280=)
|
rs1936439884
|
|
NM_003334.4(UBA1):c.843C>G (p.Ser281=)
|
|
|
NM_003334.4(UBA1):c.846C>T (p.Asn282=)
|
|
|
NM_003334.4(UBA1):c.84C>T (p.Ser28=)
|
rs782656395
|
|
NM_003334.4(UBA1):c.859A>G (p.Ile287Val)
|
rs1556788364
|
|
NM_003334.4(UBA1):c.85G>A (p.Val29Met)
|
rs1936300089
|
|
NM_003334.4(UBA1):c.874G>A (p.Val292Ile)
|
rs1301756527
|
|
NM_003334.4(UBA1):c.875T>C (p.Val292Ala)
|
|
|
NM_003334.4(UBA1):c.909+11C>T
|
|
|
NM_003334.4(UBA1):c.909+9G>T
|
|
|
NM_003334.4(UBA1):c.910-14T>C
|
rs782428315
|
|
NM_003334.4(UBA1):c.910-9C>G
|
rs1602632158
|
|
NM_003334.4(UBA1):c.914C>G (p.Ser305Cys)
|
|
|
NM_003334.4(UBA1):c.920T>C (p.Val307Ala)
|
|
|
NM_003334.4(UBA1):c.92C>G (p.Ser31Cys)
|
|
|
NM_003334.4(UBA1):c.977C>T (p.Pro326Leu)
|
rs782052714
|
|
NM_003334.4(UBA1):c.991A>G (p.Ile331Val)
|
|
|
NM_003384.2(VRK1):c.318_889+1945del
|
|
|
NM_003384.3(VRK1):c.*104A>G
|
rs1889251007
|
|
NM_003384.3(VRK1):c.*171C>A
|
rs1889253340
|
|
NM_003384.3(VRK1):c.*211A>G
|
rs886050949
|
|
NM_003384.3(VRK1):c.*338A>G
|
rs1889259011
|
|
NM_003384.3(VRK1):c.-5-146A>G
|
|
|
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu)
|
rs1261157260
|
|
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)
|
rs779911846
|
|
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro)
|
rs1566713262
|
|
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
|
|
|
NM_003384.3(VRK1):c.1038T>C (p.Asn346=)
|
rs2139815079
|
|
NM_003384.3(VRK1):c.103_104del (p.Lys35fs)
|
rs2139748811
|
|
NM_003384.3(VRK1):c.1056A>G (p.Lys352=)
|
rs2139815109
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
NM_003384.3(VRK1):c.1059A>C (p.Thr353=)
|
rs1226336700
|
|
NM_003384.3(VRK1):c.105G>A (p.Lys35=)
|
|
|
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
|
|
|
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
|
|
|
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1068+10G>A
|
|
|
NM_003384.3(VRK1):c.1068+17_1068+21del
|
|
|
NM_003384.3(VRK1):c.1068+20T>C
|
|
|
NM_003384.3(VRK1):c.1068+20T>G
|
|
|
NM_003384.3(VRK1):c.1068+9T>C
|
|
|
NM_003384.3(VRK1):c.1069-12T>G
|
|
|
NM_003384.3(VRK1):c.1069-17T>C
|
|
|
NM_003384.3(VRK1):c.1069-17T>G
|
|
|
NM_003384.3(VRK1):c.1069-19_1069-16del
|
|
|
NM_003384.3(VRK1):c.1069-2A>G
|
|
|
NM_003384.3(VRK1):c.1069-6T>C
|
rs1889016062
|
|
NM_003384.3(VRK1):c.1069-9A>T
|
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
NM_003384.3(VRK1):c.1072C>A (p.Arg358=)
|
|
|
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
|
|
|
NM_003384.3(VRK1):c.1083A>G (p.Glu361=)
|
|
|
NM_003384.3(VRK1):c.1086T>C (p.Ile362=)
|
rs2139845833
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
|
|
|
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs)
|
rs2139845849
|
|
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg)
|
rs2139748832
|
|
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg)
|
rs1470768259
|
|
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala)
|
rs1168205465
|
|
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)
|
rs2139748841
|
|
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)
|
rs2139845924
|
|
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro)
|
rs199759408
|
|
NM_003384.3(VRK1):c.1119G>A (p.Thr373=)
|
rs777515325
|
|
NM_003384.3(VRK1):c.1122A>G (p.Glu374=)
|
|
|
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg)
|
rs1595691599
|
|
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs)
|
rs1889019962
|
|
NM_003384.3(VRK1):c.1134A>G (p.Thr378=)
|
|
|
NM_003384.3(VRK1):c.1135_1136del (p.Gln379fs)
|
rs1889019962
|
|
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1146G>A (p.Glu382=)
|
rs1889020417
|
|
NM_003384.3(VRK1):c.1149C>T (p.Ala383=)
|
rs1257711610
|
|
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
|
|
|
NM_003384.3(VRK1):c.1159+10A>G
|
rs756764690
|
|
NM_003384.3(VRK1):c.1159+11C>T
|
|
|
NM_003384.3(VRK1):c.1159+18G>T
|
|
|
NM_003384.3(VRK1):c.1159+1G>A
|
rs774877872
|
|
NM_003384.3(VRK1):c.1160-14G>C
|
|
|
NM_003384.3(VRK1):c.1160-2A>G
|
rs199916225
|
|
NM_003384.3(VRK1):c.1160-4C>G
|
|
|
NM_003384.3(VRK1):c.1160-4C>T
|
|
|
NM_003384.3(VRK1):c.1160-5T>C
|
rs2139857584
|
|
NM_003384.3(VRK1):c.1160-7C>T
|
rs1251234541
|
|
NM_003384.3(VRK1):c.1160-7del
|
|
|
NM_003384.3(VRK1):c.1160-8del
|
rs2139857568
|
|
NM_003384.3(VRK1):c.1161T>C (p.Arg387=)
|
rs1196862965
|
|
NM_003384.3(VRK1):c.1161T>G (p.Arg387=)
|
|
|
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
|
|
|
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
|
|
|
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)
|
rs749258908
|
|
NM_003384.3(VRK1):c.1176G>A (p.Lys392=)
|
|
|
NM_003384.3(VRK1):c.120A>G (p.Gly40=)
|
|
|
NM_003384.3(VRK1):c.12A>T (p.Val4=)
|
|
|
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
|
|
|
NM_003384.3(VRK1):c.135A>G (p.Gln45=)
|
rs1595660598
|
|
NM_003384.3(VRK1):c.138A>G (p.Gly46=)
|
|
|
NM_003384.3(VRK1):c.150T>C (p.Cys50=)
|
rs747562164
|
|
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)
|
rs1887100431
|
|
NM_003384.3(VRK1):c.156_160+3del
|
rs1566696845
|
|
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
|
|
|
NM_003384.3(VRK1):c.160+1G>T
|
rs2139749072
|
|
NM_003384.3(VRK1):c.160+1del
|
|
|
NM_003384.3(VRK1):c.161-10T>C
|
|
|
NM_003384.3(VRK1):c.161-2A>G
|
|
|
NM_003384.3(VRK1):c.161-6A>T
|
|
|
NM_003384.3(VRK1):c.161-7dup
|
rs1295596727
|
|
NM_003384.3(VRK1):c.179_180del (p.Glu60fs)
|
rs2139759363
|
|
NM_003384.3(VRK1):c.183A>G (p.Ser61=)
|
|
|
NM_003384.3(VRK1):c.184G>A (p.Val62Ile)
|
rs1555360117
|
|
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
|
|
|
NM_003384.3(VRK1):c.216+1G>A
|
|
|
NM_003384.3(VRK1):c.216+9T>C
|
|
|
NM_003384.3(VRK1):c.217-10A>G
|
rs2139778948
|
|
NM_003384.3(VRK1):c.217-10dup
|
|
|
NM_003384.3(VRK1):c.217-12T>C
|
|
|
NM_003384.3(VRK1):c.217-14T>C
|
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
NM_003384.3(VRK1):c.217-7T>C
|
rs2139778978
|
|
NM_003384.3(VRK1):c.217-8_217-7del
|
|
|
NM_003384.3(VRK1):c.217-9T>C
|
rs529433051
|
|
NM_003384.3(VRK1):c.217-9del
|
rs2139778965
|
|
NM_003384.3(VRK1):c.219A>G (p.Glu73=)
|
|
|
NM_003384.3(VRK1):c.21T>C (p.Ala7=)
|
|
|
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
|
|
|
NM_003384.3(VRK1):c.222C>T (p.Pro74=)
|
|
|
NM_003384.3(VRK1):c.222del (p.Ser75fs)
|
rs2139779014
|
|
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
|
|
|
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
|
|
|
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu)
|
rs2139779062
|
|
NM_003384.3(VRK1):c.237T>G (p.Pro79=)
|
|
|
NM_003384.3(VRK1):c.238C>G (p.Leu80Val)
|
rs2139779081
|
|
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys)
|
rs2139779137
|
|
NM_003384.3(VRK1):c.252A>G (p.Leu84=)
|
|
|
NM_003384.3(VRK1):c.261C>T (p.Tyr87=)
|
rs748309797
|
|
NM_003384.3(VRK1):c.270T>C (p.Ala90=)
|
|
|
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
|
|
|
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro)
|
rs1887677369
|
|
NM_003384.3(VRK1):c.286+11C>A
|
|
|
NM_003384.3(VRK1):c.286+11C>T
|
|
|
NM_003384.3(VRK1):c.286+15A>G
|
|
|
NM_003384.3(VRK1):c.287-11T>C
|
|
|
NM_003384.3(VRK1):c.287-2A>C
|
|
|
NM_003384.3(VRK1):c.287-4G>A
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-4G>T
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-7T>C
|
|
|
NM_003384.3(VRK1):c.287-8_287-7delinsTA
|
rs1064795545
|
|
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
|
|
|
NM_003384.3(VRK1):c.306C>G (p.Thr102=)
|
rs1326352230
|
|
NM_003384.3(VRK1):c.312G>A (p.Lys104=)
|
rs1269621133
|
|
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
|
|
|
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
|
|
|
NM_003384.3(VRK1):c.327T>A (p.Gly109=)
|
|
|
NM_003384.3(VRK1):c.330T>C (p.Val110=)
|
|
|
NM_003384.3(VRK1):c.339T>C (p.Tyr113=)
|
|
|
NM_003384.3(VRK1):c.354A>G (p.Leu118=)
|
|
|
NM_003384.3(VRK1):c.362_365del (p.Lys121fs)
|
rs772146380
|
|
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly)
|
rs1887746110
|
|
NM_003384.3(VRK1):c.374+11G>A
|
rs937625087
|
|
NM_003384.3(VRK1):c.374+15G>C
|
|
|
NM_003384.3(VRK1):c.374+1G>T
|
|
|
NM_003384.3(VRK1):c.374+7A>T
|
|
|
NM_003384.3(VRK1):c.374+7dup
|
|
|
NM_003384.3(VRK1):c.375-10T>C
|
rs2139795498
|
|
NM_003384.3(VRK1):c.375-12A>G
|
|
|
NM_003384.3(VRK1):c.375-14A>G
|
|
|
NM_003384.3(VRK1):c.375-19T>C
|
|
|
NM_003384.3(VRK1):c.375-4T>C
|
|
|
NM_003384.3(VRK1):c.378C>T (p.Tyr126=)
|
rs1344283744
|
|
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp)
|
rs1888003676
|
|
NM_003384.3(VRK1):c.381G>A (p.Arg127=)
|
rs2139795531
|
|
NM_003384.3(VRK1):c.387dup (p.Ile130fs)
|
rs2139795550
|
|
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
|
|
|
NM_003384.3(VRK1):c.396T>C (p.Asp132=)
|
rs2139795583
|
|
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly)
|
rs387906830
|
|
NM_003384.3(VRK1):c.399C>T (p.Arg133=)
|
|
|
NM_003384.3(VRK1):c.402_890-895del
|
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
NM_003384.3(VRK1):c.426T>C (p.Tyr142=)
|
rs2139795639
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
NM_003384.3(VRK1):c.444G>A (p.Arg148=)
|
|
|
NM_003384.3(VRK1):c.456A>G (p.Lys152=)
|
rs2139795727
|
|
NM_003384.3(VRK1):c.459T>C (p.Thr153=)
|
rs145911601
|
|
NM_003384.3(VRK1):c.462C>A (p.Val154=)
|
rs757654085
|
|
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
|
|
|
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
|
|
|
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu)
|
rs763034734
|
|
NM_003384.3(VRK1):c.471A>C (p.Leu157=)
|
rs2139795805
|
|
NM_003384.3(VRK1):c.474C>T (p.Ser158=)
|
rs2139795825
|
|
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser)
|
rs888338488
|
|
NM_003384.3(VRK1):c.483+10_483+23del
|
rs1888009081
|
|
NM_003384.3(VRK1):c.483+12A>G
|
|
|
NM_003384.3(VRK1):c.483+15T>A
|
|
|
NM_003384.3(VRK1):c.483+17C>G
|
|
|
NM_003384.3(VRK1):c.483+1G>A
|
|
|
NM_003384.3(VRK1):c.483+20_483+22del
|
rs566207500
|
|
NM_003384.3(VRK1):c.483+20dup
|
|
|
NM_003384.3(VRK1):c.483+8A>G
|
rs2139795917
|
|
NM_003384.3(VRK1):c.483T>A (p.Ile161=)
|
rs1888008625
|
|
NM_003384.3(VRK1):c.484-15A>T
|
|
|
NM_003384.3(VRK1):c.484-16T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>G
|
|
|
NM_003384.3(VRK1):c.484-5C>T
|
|
|
NM_003384.3(VRK1):c.484-6T>G
|
|
|
NM_003384.3(VRK1):c.484-6dup
|
rs2139796250
|
|
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro)
|
rs1888014947
|
|
NM_003384.3(VRK1):c.495G>C (p.Leu165=)
|
rs2139796298
|
|
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
|
|
|
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
|
|
|
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
|
|
|
NM_003384.3(VRK1):c.513T>C (p.His171=)
|
rs2139796362
|
|
NM_003384.3(VRK1):c.516G>A (p.Glu172=)
|
rs2139796370
|
|
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)
|
rs888762581
|
|
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup)
|
rs2139796397
|
|
NM_003384.3(VRK1):c.534C>T (p.Ile178=)
|
|
|
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg)
|
rs1566708080
|
|
NM_003384.3(VRK1):c.537G>A (p.Lys179=)
|
rs1888016926
|
|
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
|
|
|
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer)
|
rs2139796429
|
|
NM_003384.3(VRK1):c.544A>C (p.Asn182His)
|
rs745552947
|
|
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)
|
rs774219368
|
|
NM_003384.3(VRK1):c.549T>C (p.Leu183=)
|
rs1888017489
|
|
NM_003384.3(VRK1):c.551T>A (p.Leu184His)
|
rs1888017746
|
|
NM_003384.3(VRK1):c.555G>C (p.Leu185=)
|
rs2139796508
|
|
NM_003384.3(VRK1):c.561C>T (p.Tyr187=)
|
rs2139796518
|
|
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
|
|
|
NM_003384.3(VRK1):c.576+11A>G
|
|
|
NM_003384.3(VRK1):c.576+18A>G
|
|
|
NM_003384.3(VRK1):c.576+1G>A
|
|
|
NM_003384.3(VRK1):c.577-11del
|
|
|
NM_003384.3(VRK1):c.577-16G>C
|
|
|
NM_003384.3(VRK1):c.577-18G>A
|
|
|
NM_003384.3(VRK1):c.577-18G>T
|
|
|
NM_003384.3(VRK1):c.577-18del
|
rs759260596
|
|
NM_003384.3(VRK1):c.577-5T>C
|
|
|
NM_003384.3(VRK1):c.57T>C (p.Leu19=)
|
rs2139748645
|
|
NM_003384.3(VRK1):c.582C>T (p.Tyr194=)
|
|
|
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe)
|
rs748878251
|
|
NM_003384.3(VRK1):c.586G>C (p.Val196Leu)
|
rs372089106
|
|
NM_003384.3(VRK1):c.588A>G (p.Val196=)
|
rs1387075963
|
|
NM_003384.3(VRK1):c.591T>C (p.Asp197=)
|
|
|
NM_003384.3(VRK1):c.600T>C (p.Leu200=)
|
|
|
NM_003384.3(VRK1):c.603T>G (p.Ala201=)
|
rs1157448476
|
|
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
|
|
|
NM_003384.3(VRK1):c.609G>A (p.Arg203=)
|
|
|
NM_003384.3(VRK1):c.609G>C (p.Arg203=)
|
rs1298227038
|
|
NM_003384.3(VRK1):c.615C>T (p.Cys205=)
|
rs772730428
|
|
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
|
|
|
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
|
|
|
NM_003384.3(VRK1):c.636A>G (p.Glu212=)
|
rs776975502
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.648C>T (p.Asp216=)
|
rs765348075
|
|
NM_003384.3(VRK1):c.651C>G (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.651C>T (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter)
|
rs2139801958
|
|
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)
|
rs762979613
|
|
NM_003384.3(VRK1):c.660T>C (p.Cys220=)
|
rs762979613
|
|
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.669C>T (p.Gly223=)
|
|
|
NM_003384.3(VRK1):c.672T>A (p.Thr224=)
|
|
|
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
|
|
|
NM_003384.3(VRK1):c.684G>A (p.Thr228=)
|
rs753585913
|
|
NM_003384.3(VRK1):c.684G>C (p.Thr228=)
|
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly)
|
rs757917768
|
|
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser)
|
rs2139802156
|
|
NM_003384.3(VRK1):c.705C>G (p.Gly235=)
|
rs2230532
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.709+12G>A
|
|
|
NM_003384.3(VRK1):c.709+13T>A
|
|
|
NM_003384.3(VRK1):c.709+14A>G
|
|
|
NM_003384.3(VRK1):c.709+17G>A
|
|
|
NM_003384.3(VRK1):c.709+18G>T
|
|
|
NM_003384.3(VRK1):c.709+7_709+12dup
|
|
|
NM_003384.3(VRK1):c.709+8A>G
|
|
|
NM_003384.3(VRK1):c.710-13C>G
|
|
|
NM_003384.3(VRK1):c.710-15C>G
|
rs757988438
|
|
NM_003384.3(VRK1):c.710-1G>A
|
|
|
NM_003384.3(VRK1):c.710-8A>G
|
rs781693457
|
|
NM_003384.3(VRK1):c.710-9C>T
|
|
|
NM_003384.3(VRK1):c.711C>T (p.Ala237=)
|
rs2139803845
|
|
NM_003384.3(VRK1):c.729T>C (p.Asp243=)
|
|
|
NM_003384.3(VRK1):c.72A>G (p.Ala24=)
|
|
|
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter)
|
rs1200170208
|
|
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro)
|
rs1478722226
|
|
NM_003384.3(VRK1):c.747T>C (p.Tyr249=)
|
|
|
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp)
|
rs1888144387
|
|
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg)
|
rs768822328
|
|
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
|
|
|
NM_003384.3(VRK1):c.768T>C (p.Thr256=)
|
rs2139804008
|
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
NM_003384.3(VRK1):c.779del (p.Pro260fs)
|
|
|
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter)
|
rs2139804073
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)
|
rs1566696565
|
|
NM_003384.3(VRK1):c.804T>C (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.804T>G (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu)
|
rs1888147421
|
|
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
|
|
|
NM_003384.3(VRK1):c.812T>C (p.Val271Ala)
|
rs2139804166
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
NM_003384.3(VRK1):c.822C>T (p.Ser274=)
|
|
|
NM_003384.3(VRK1):c.830+12C>T
|
|
|
NM_003384.3(VRK1):c.830+16_830+20del
|
|
|
NM_003384.3(VRK1):c.830+1G>C
|
|
|
NM_003384.3(VRK1):c.830+7G>A
|
rs2139804244
|
|
NM_003384.3(VRK1):c.830+9A>G
|
rs2139804260
|
|
NM_003384.3(VRK1):c.830G>A (p.Arg277Lys)
|
rs1888148684
|
|
NM_003384.3(VRK1):c.831-12A>T
|
|
|
NM_003384.3(VRK1):c.831-16C>T
|
|
|
NM_003384.3(VRK1):c.831-9T>C
|
rs2139804862
|
|
NM_003384.3(VRK1):c.837A>G (p.Arg279=)
|
|
|
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
|
|
|
NM_003384.3(VRK1):c.864A>G (p.Lys288=)
|
rs1744342065
|
|
NM_003384.3(VRK1):c.881del (p.Asn294fs)
|
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
NM_003384.3(VRK1):c.883_886del (p.Lys295fs)
|
rs779282547
|
|
NM_003384.3(VRK1):c.889+10G>A
|
|
|
NM_003384.3(VRK1):c.889+10G>T
|
rs1456272984
|
|
NM_003384.3(VRK1):c.889+11A>G
|
|
|
NM_003384.3(VRK1):c.889+14T>C
|
|
|
NM_003384.3(VRK1):c.889+15C>T
|
|
|
NM_003384.3(VRK1):c.889+18C>T
|
|
|
NM_003384.3(VRK1):c.889+19A>C
|
|
|
NM_003384.3(VRK1):c.889+1G>A
|
rs1482696609
|
|
NM_003384.3(VRK1):c.889+20G>C
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+20G>T
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+8A>G
|
|
|
NM_003384.3(VRK1):c.889+9T>C
|
rs1257886278
|
|
NM_003384.3(VRK1):c.890-10A>G
|
|
|
NM_003384.3(VRK1):c.890-15G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>C
|
|
|
NM_003384.3(VRK1):c.890-22_890-15del
|
|
|
NM_003384.3(VRK1):c.890-4T>C
|
rs2139814659
|
|
NM_003384.3(VRK1):c.894A>G (p.Glu298=)
|
|
|
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
|
|
|
NM_003384.3(VRK1):c.897del (p.Ile299fs)
|
rs2139814687
|
|
NM_003384.3(VRK1):c.8G>A (p.Arg3His)
|
rs902439355
|
|
NM_003384.3(VRK1):c.913dup (p.Thr305fs)
|
rs2139814734
|
|
NM_003384.3(VRK1):c.915A>G (p.Thr305=)
|
rs1481654179
|
|
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
|
|
|
NM_003384.3(VRK1):c.933C>T (p.Tyr311=)
|
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
NM_003384.3(VRK1):c.948T>C (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.948T>G (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
|
|
|
NM_003384.3(VRK1):c.962G>A (p.Arg321His)
|
rs200927943
|
|
NM_003384.3(VRK1):c.967A>G (p.Ile323Val)
|
rs754315181
|
|
NM_003384.3(VRK1):c.969T>C (p.Ile323=)
|
|
|
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg)
|
rs2139814873
|
|
NM_003384.3(VRK1):c.972T>C (p.Leu324=)
|
rs2139814880
|
|
NM_003384.3(VRK1):c.972T>G (p.Leu324=)
|
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003384.3(VRK1):c.984A>G (p.Leu328=)
|
rs765633672
|
|
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
|
|
|
NM_003384.3(VRK1):c.9T>G (p.Arg3=)
|
rs771646609
|
|
NM_003790.3(TNFRSF25):c.-51A>G
|
rs1644367397
|
|
NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=)
|
rs765964997
|
|
NM_003900.5(SQSTM1):c.-27C>T
|
rs781131232
|
|
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
|
|
|
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334=)
|
|
|
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
|
|
|
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn)
|
rs1554091442
|
|
NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)
|
|
|
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
|
|
|
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln)
|
rs1554091448
|
|
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
|
|
|
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr)
|
rs774512680
|
|
NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
|
|
|
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
|
|
|
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=)
|
rs2113512674
|
|
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln)
|
rs765610848
|
|
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)
|
rs765610848
|
|
NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
|
|
|
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
|
|
|
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs)
|
rs1758356210
|
|
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
|
|
|
NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
|
|
|
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu)
|
rs2113512735
|
|
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
|
|
|
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
|
|
|
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val)
|
rs2113512757
|
|
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
|
|
|
NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
|
|
|
NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
|
|
|
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=)
|
rs2113512810
|
|
NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)
|
|
|
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys)
|
rs1582022482
|
|
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
|
|
|
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
|
|
|
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe)
|
rs2113512860
|
|
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
|
|
|
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
|
|
|
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=)
|
rs569052431
|
|
NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer)
|
rs1758359961
|
|
NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
|
|
|
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=)
|
rs778833279
|
|
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu)
|
rs1298281008
|
|
NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)
|
|
|
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
|
|
|
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383=)
|
|
|
NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)
|
|
|
NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
|
|
|
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
|
|
|
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
|
|
|
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=)
|
rs944423329
|
|
NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)
|
|
|
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg)
|
rs2113513106
|
|
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
|
|
|
NM_003900.5(SQSTM1):c.1158C>T (p.Leu386=)
|
|
|
NM_003900.5(SQSTM1):c.1159C>G (p.Pro387Ala)
|
|
|
NM_003900.5(SQSTM1):c.1161G>A (p.Pro387=)
|
rs372271201
|
|
NM_003900.5(SQSTM1):c.1161G>T (p.Pro387=)
|
|
|
NM_003900.5(SQSTM1):c.1165+10C>T
|
|
|
NM_003900.5(SQSTM1):c.1165+12A>G
|
|
|
NM_003900.5(SQSTM1):c.1165+7G>T
|
|
|
NM_003900.5(SQSTM1):c.1165+9del
|
|
|
NM_003900.5(SQSTM1):c.1166-12C>T
|
rs201463748
|
|
NM_003900.5(SQSTM1):c.1166-14_1166-11del
|
rs538853972
|
|
NM_003900.5(SQSTM1):c.1166-20C>T
|
|
|
NM_003900.5(SQSTM1):c.1166-2A>G
|
|
|
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr)
|
rs2113524011
|
|
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=)
|
rs1440412378
|
|
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs)
|
rs1758558921
|
|
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn)
|
rs2113524028
|
|
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
|
|
|
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
|
|
|
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=)
|
rs1449666849
|
|
NM_003900.5(SQSTM1):c.1181_*644del (p.Leu394fs)
|
|
|
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr)
|
rs1471635040
|
|
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter)
|
rs1254158201
|
|
NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)
|
|
|
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
|
|
|
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
|
|
|
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
|
|
|
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu)
|
rs201795943
|
|
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
|
|
|
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
|
|
|
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)
|
rs1247551175
|
|
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=)
|
rs368933511
|
|
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser)
|
rs1377640860
|
|
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
|
|
|
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
|
|
|
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
|
|
|
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=)
|
rs1554092111
|
|
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417=)
|
|
|
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
|
|
|
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=)
|
rs1383894920
|
|
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423=)
|
|
|
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
|
|
|
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr)
|
rs2113524491
|
|
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
|
|
|
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro)
|
rs770118706
|
|
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His)
|
rs2113524577
|
|
NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)
|
|
|
NM_003900.5(SQSTM1):c.1306C>T (p.His436Tyr)
|
rs534476029
|
|
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
|
|
|
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
|
|
|
NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)
|
|
|
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
|
|
|
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
|
|
|
NM_003900.5(SQSTM1):c.1317G>A (p.Pro439=)
|
|
|
NM_003900.5(SQSTM1):c.1317G>C (p.Pro439=)
|
|
|
NM_003900.5(SQSTM1):c.1320G>A (p.Leu440=)
|
rs753600779
|
|
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
|
|
|
NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)
|
|
|
NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)
|
|
|
NM_003900.5(SQSTM1):c.147C>T (p.Ser49=)
|
rs1258824064
|
|
NM_003900.5(SQSTM1):c.15C>T (p.Thr5=)
|
rs756670021
|
|
NM_003900.5(SQSTM1):c.165C>T (p.Phe55=)
|
rs886060501
|
|
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu)
|
rs778461636
|
|
NM_003900.5(SQSTM1):c.171G>T (p.Ala57=)
|
|
|
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del)
|
rs2113480023
|
|
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser)
|
rs1411304344
|
|
NM_003900.5(SQSTM1):c.183C>A (p.Gly61=)
|
rs767340839
|
|
NM_003900.5(SQSTM1):c.185_205+48delinsCACTACAGAGGTCCTGGTCTGTGCGGGGGCCTCCAGGCCTTCTGCGCTGCAGCCACTGCGCTGTGTCCCCTGTGATTGTCAATCTCCCTAAAGATGGCCCAGAGCAGTGCGGCCTGAATC
|
|
|
NM_003900.5(SQSTM1):c.186C>T (p.Gly62=)
|
|
|
NM_003900.5(SQSTM1):c.192G>A (p.Gln64=)
|
|
|
NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)
|
|
|
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
|
|
|
NM_003900.5(SQSTM1):c.195G>T (p.Ala65=)
|
|
|
NM_003900.5(SQSTM1):c.200A>G (p.Tyr67Cys)
|
|
|
NM_003900.5(SQSTM1):c.205+11C>G
|
|
|
NM_003900.5(SQSTM1):c.205+12G>C
|
rs869101530
|
|
NM_003900.5(SQSTM1):c.205+12G>T
|
rs869101530
|
|
NM_003900.5(SQSTM1):c.205+14G>A
|
|
|
NM_003900.5(SQSTM1):c.205+14G>C
|
|
|
NM_003900.5(SQSTM1):c.205+16A>C
|
|
|
NM_003900.5(SQSTM1):c.205+18C>G
|
rs1757759662
|
|
NM_003900.5(SQSTM1):c.205+18C>T
|
|
|
NM_003900.5(SQSTM1):c.205+19G>T
|
|
|
NM_003900.5(SQSTM1):c.205+2T>C
|
|
|
NM_003900.5(SQSTM1):c.205+7G>A
|
rs912066047
|
|
NM_003900.5(SQSTM1):c.205+7G>T
|
|
|
NM_003900.5(SQSTM1):c.206-11A>G
|
|
|
NM_003900.5(SQSTM1):c.206-2A>G
|
|
|
NM_003900.5(SQSTM1):c.206-4C>G
|
rs370778198
|
|
NM_003900.5(SQSTM1):c.206-4C>T
|
rs370778198
|
|
NM_003900.5(SQSTM1):c.206-7_206-4del
|
rs779766449
|
|
NM_003900.5(SQSTM1):c.206-8C>T
|
|
|
NM_003900.5(SQSTM1):c.206-9A>G
|
rs2113484953
|
|
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp)
|
rs2113484986
|
|
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
|
|
|
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala)
|
rs1757838607
|
|
NM_003900.5(SQSTM1):c.240C>G (p.Asp80Glu)
|
rs148366738
|
|
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)
|
rs1425863340
|
|
NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)
|
|
|
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=)
|
rs752464933
|
|
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
|
|
|
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
|
|
|
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
|
|
|
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
|
|
|
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
|
|
|
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
|
|
|
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile)
|
rs1274176534
|
|
NM_003900.5(SQSTM1):c.301+10T>A
|
|
|
NM_003900.5(SQSTM1):c.301+12C>T
|
rs141530539
|
|
NM_003900.5(SQSTM1):c.301+13_301+24del
|
rs1582006453
|
|
NM_003900.5(SQSTM1):c.301+1G>T
|
rs2113485289
|
|
NM_003900.5(SQSTM1):c.301+20G>A
|
|
|
NM_003900.5(SQSTM1):c.301+6G>C
|
|
|
NM_003900.5(SQSTM1):c.302-10C>A
|
|
|
NM_003900.5(SQSTM1):c.302-10C>T
|
|
|
NM_003900.5(SQSTM1):c.302-11C>T
|
|
|
NM_003900.5(SQSTM1):c.302-13A>G
|
|
|
NM_003900.5(SQSTM1):c.302-15T>C
|
|
|
NM_003900.5(SQSTM1):c.302-20T>C
|
|
|
NM_003900.5(SQSTM1):c.302-4G>A
|
rs1757883398
|
|
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del)
|
rs2113487449
|
|
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
|
|
|
NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)
|
|
|
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
|
|
|
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp)
|
rs886060503
|
|
NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)
|
|
|
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
|
|
|
NM_003900.5(SQSTM1):c.327C>T (p.His109=)
|
rs2113487546
|
|
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
|
|
|
NM_003900.5(SQSTM1):c.333A>C (p.Pro111=)
|
|
|
NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)
|
|
|
NM_003900.5(SQSTM1):c.339T>C (p.Cys113=)
|
|
|
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly)
|
rs1757886934
|
|
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
|
|
|
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
|
|
|
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
|
|
|
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile)
|
rs1562654519
|
|
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val)
|
rs866832054
|
|
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
|
|
|
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
|
|
|
NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)
|
|
|
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
|
|
|
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
|
|
|
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=)
|
rs2113487764
|
|
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
|
|
|
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met)
|
rs1582007866
|
|
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr)
|
rs753212399
|
|
NM_003900.5(SQSTM1):c.387T>C (p.Asp129=)
|
|
|
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
|
|
|
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
|
|
|
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
|
|
|
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
|
|
|
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
|
|
|
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu)
|
rs372480231
|
|
NM_003900.5(SQSTM1):c.402T>C (p.Pro134=)
|
|
|
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=)
|
rs2113487897
|
|
NM_003900.5(SQSTM1):c.415del (p.Arg139fs)
|
rs2113487920
|
|
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=)
|
rs374417389
|
|
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
|
|
|
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
|
|
|
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
|
|
|
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
|
|
|
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
|
|
|
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
|
|
|
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
|
|
|
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)
|
rs775988188
|
|
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
|
|
|
NM_003900.5(SQSTM1):c.465G>A (p.Glu155=)
|
|
|
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)
|
rs773552098
|
|
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
|
|
|
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=)
|
rs35266480
|
|
NM_003900.5(SQSTM1):c.480C>T (p.His160=)
|
|
|
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln)
|
rs118160361
|
|
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
|
|
|
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=)
|
rs1284664878
|
|
NM_003900.5(SQSTM1):c.489C>T (p.His163=)
|
|
|
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
|
|
|
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
|
|
|
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
|
|
|
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
|
|
|
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
|
|
|
NM_003900.5(SQSTM1):c.522C>T (p.His174=)
|
|
|
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs)
|
rs1331685476
|
|
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys)
|
rs1229776140
|
|
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
|
|
|
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala)
|
rs1392938040
|
|
NM_003900.5(SQSTM1):c.531+14C>G
|
|
|
NM_003900.5(SQSTM1):c.531+15dup
|
rs2113488538
|
|
NM_003900.5(SQSTM1):c.531+16G>A
|
|
|
NM_003900.5(SQSTM1):c.531+16G>T
|
|
|
NM_003900.5(SQSTM1):c.531+7A>G
|
rs2113488503
|
|
NM_003900.5(SQSTM1):c.532-18T>C
|
|
|
NM_003900.5(SQSTM1):c.532-5C>T
|
|
|
NM_003900.5(SQSTM1):c.532-6C>T
|
rs2113488787
|
|
NM_003900.5(SQSTM1):c.532-7C>A
|
rs770329828
|
|
NM_003900.5(SQSTM1):c.532-9C>T
|
|
|
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)
|
|
|
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
|
|
|
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn)
|
rs1757907176
|
|
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg)
|
rs1562655554
|
|
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
|
|
|
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=)
|
rs1582002994
|
|
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
|
|
|
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg)
|
rs373585056
|
|
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
|
|
|
NM_003900.5(SQSTM1):c.588A>G (p.Pro196=)
|
|
|
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
|
|
|
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val)
|
rs377371202
|
|
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
|
|
|
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=)
|
rs2113489068
|
|
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
|
|
|
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
|
|
|
NM_003900.5(SQSTM1):c.609A>G (p.Pro203=)
|
rs1253593077
|
|
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)
|
rs771036207
|
|
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
|
|
|
NM_003900.5(SQSTM1):c.621C>T (p.Ser207=)
|
|
|
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr)
|
rs1256909021
|
|
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu)
|
rs1757909856
|
|
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His)
|
rs1303154345
|
|
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
|
|
|
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser)
|
rs1370363543
|
|
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del)
|
rs747274001
|
|
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
|
|
|
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly)
|
rs201263163
|
|
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys)
|
rs201263163
|
|
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
|
|
|
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
|
|
|
NM_003900.5(SQSTM1):c.639A>G (p.Ala213=)
|
|
|
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=)
|
rs2113489256
|
|
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met)
|
rs199663339
|
|
NM_003900.5(SQSTM1):c.673+15G>A
|
|
|
NM_003900.5(SQSTM1):c.673+19C>A
|
|
|
NM_003900.5(SQSTM1):c.673+19C>T
|
|
|
NM_003900.5(SQSTM1):c.673+9T>G
|
rs2113489349
|
|
NM_003900.5(SQSTM1):c.674-11A>G
|
|
|
NM_003900.5(SQSTM1):c.674-13G>A
|
rs2113491112
|
|
NM_003900.5(SQSTM1):c.674-18T>G
|
rs1317780724
|
|
NM_003900.5(SQSTM1):c.674-5C>T
|
|
|
NM_003900.5(SQSTM1):c.674-7dup
|
rs761346520
|
|
NM_003900.5(SQSTM1):c.674-8A>G
|
|
|
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
|
|
|
NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)
|
|
|
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=)
|
rs140341924
|
|
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
|
|
|
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=)
|
rs766419538
|
|
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp)
|
rs1467107148
|
|
NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)
|
|
|
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
|
|
|
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)
|
rs796052214
|
|
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
|
|
|
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=)
|
rs889431769
|
|
NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)
|
|
|
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
|
|
|
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
|
|
|
NM_003900.5(SQSTM1):c.751C>T (p.Leu251=)
|
|
|
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
|
|
|
NM_003900.5(SQSTM1):c.754+11C>G
|
|
|
NM_003900.5(SQSTM1):c.754+11C>T
|
|
|
NM_003900.5(SQSTM1):c.754+13C>A
|
rs1232662115
|
|
NM_003900.5(SQSTM1):c.754+18C>T
|
|
|
NM_003900.5(SQSTM1):c.754+5G>A
|
|
|
NM_003900.5(SQSTM1):c.755-12C>G
|
|
|
NM_003900.5(SQSTM1):c.755-12C>T
|
rs1043468451
|
|
NM_003900.5(SQSTM1):c.755-13C>T
|
|
|
NM_003900.5(SQSTM1):c.755-20C>G
|
|
|
NM_003900.5(SQSTM1):c.755-4C>T
|
|
|
NM_003900.5(SQSTM1):c.755-6C>T
|
|
|
NM_003900.5(SQSTM1):c.755-8G>T
|
rs369581639
|
|
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr)
|
rs753016349
|
|
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile)
|
rs182522590
|
|
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
|
|
|
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
|
|
|
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala)
|
rs988411948
|
|
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly)
|
rs988411948
|
|
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met)
|
rs372827450
|
|
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=)
|
rs372827450
|
|
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
|
|
|
NM_003900.5(SQSTM1):c.786A>G (p.Gly262=)
|
rs1214357767
|
|
NM_003900.5(SQSTM1):c.78C>T (p.Cys26=)
|
rs2113479661
|
|
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
|
|
|
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser)
|
rs745853858
|
|
NM_003900.5(SQSTM1):c.810del (p.Val271fs)
|
rs1758316662
|
|
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
|
|
|
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
|
|
|
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
|
|
|
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
|
|
|
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs)
|
rs1273214757
|
|
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe)
|
rs202119215
|
|
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly)
|
rs2113510695
|
|
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
|
|
|
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)
|
rs752009611
|
|
NM_003900.5(SQSTM1):c.837G>A (p.Glu279=)
|
rs2113510724
|
|
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr)
|
rs760785371
|
|
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)
|
rs759823891
|
|
NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)
|
|
|
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr)
|
rs764205744
|
|
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu)
|
rs754060027
|
|
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg)
|
rs1012113887
|
|
NM_003900.5(SQSTM1):c.885G>A (p.Lys295=)
|
rs2113510916
|
|
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=)
|
rs148984239
|
|
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
|
|
|
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys)
|
rs764111892
|
|
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg)
|
rs2113510972
|
|
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
|
|
|
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
|
|
|
NM_003900.5(SQSTM1):c.918T>C (p.Ser306=)
|
|
|
NM_003900.5(SQSTM1):c.919C>T (p.Leu307=)
|
|
|
NM_003900.5(SQSTM1):c.921G>A (p.Leu307=)
|
|
|
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
|
|
|
NM_003900.5(SQSTM1):c.934A>C (p.Arg312=)
|
|
|
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
|
|
|
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met)
|
rs200695664
|
|
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
|
|
|
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
|
|
|
NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)
|
|
|
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
|
|
|
NM_003900.5(SQSTM1):c.969+14C>T
|
|
|
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=)
|
rs2113511316
|
|
NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)
|
|
|
NM_003900.5(SQSTM1):c.970-13A>G
|
rs1013927869
|
|
NM_003900.5(SQSTM1):c.970-2A>G
|
rs2113512370
|
|
NM_003900.5(SQSTM1):c.970-4C>T
|
|
|
NM_003900.5(SQSTM1):c.970-8T>C
|
|
|
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys)
|
rs1436000961
|
|
NM_003900.5(SQSTM1):c.970del
|
rs758377403
|
|
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
|
|
|
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys)
|
rs1358261412
|
|
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)
|
|
|
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
|
|
|
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
|
|
|
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
|
|
|
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
|
|
|
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
|
|
|
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
|
|
|
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
|
|
|
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu)
|
rs1185406298
|
|
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)
|
rs778047147
|
|
NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)
|
|
|
NM_004082.5(DCTN1):c.*111C>T
|
rs1673974256
|
|
NM_004082.5(DCTN1):c.-262A>G
|
rs886056336
|
|
NM_004082.5(DCTN1):c.-263C>G
|
rs1013222986
|
|
NM_004082.5(DCTN1):c.-72C>G
|
rs886056334
|
|
NM_004082.5(DCTN1):c.1000G>A (p.Glu334Lys)
|
|
|
NM_004082.5(DCTN1):c.1000G>T (p.Glu334Ter)
|
|
|
NM_004082.5(DCTN1):c.1008T>C (p.Thr336=)
|
|
|
NM_004082.5(DCTN1):c.1009A>G (p.Thr337Ala)
|
rs2103659798
|
|
NM_004082.5(DCTN1):c.1016T>C (p.Leu339Ser)
|
|
|
NM_004082.5(DCTN1):c.1023C>T (p.Ile341=)
|
rs1211302208
|
|
NM_004082.5(DCTN1):c.1026C>T (p.Leu342=)
|
|
|
NM_004082.5(DCTN1):c.1048+10C>T
|
rs2103659237
|
|
NM_004082.5(DCTN1):c.1048+17T>C
|
|
|
NM_004082.5(DCTN1):c.1048+20T>A
|
rs1674765824
|
|
NM_004082.5(DCTN1):c.1048+3A>C
|
rs1674767158
|
|
NM_004082.5(DCTN1):c.1048+4A>G
|
rs1309897356
|
|
NM_004082.5(DCTN1):c.1048+6G>A
|
|
|
NM_004082.5(DCTN1):c.1048+8G>A
|
rs1335279632
|
|
NM_004082.5(DCTN1):c.1049-13_1049-12del
|
|
|
NM_004082.5(DCTN1):c.1054G>C (p.Asp352His)
|
|
|
NM_004082.5(DCTN1):c.1062T>C (p.Ala354=)
|
|
|
NM_004082.5(DCTN1):c.1065A>T (p.Ala355=)
|
rs886056333
|
|
NM_004082.5(DCTN1):c.1086G>T (p.Gln362His)
|
|
|
NM_004082.5(DCTN1):c.1093G>T (p.Glu365Ter)
|
|
|
NM_004082.5(DCTN1):c.1102G>A (p.Ala368Thr)
|
rs1034996844
|
|
NM_004082.5(DCTN1):c.1106G>A (p.Arg369His)
|
|
|
NM_004082.5(DCTN1):c.1125G>T (p.Val375=)
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|
NM_004082.5(DCTN1):c.1127+14T>C
|
|
|
NM_004082.5(DCTN1):c.1127+16C>T
|
|
|
NM_004082.5(DCTN1):c.1127+6G>A
|
rs951022782
|
|
NM_004082.5(DCTN1):c.1127+8C>G
|
rs2103657565
|
|
NM_004082.5(DCTN1):c.1128-10A>G
|
|
|
NM_004082.5(DCTN1):c.1128-13C>G
|
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|
NM_004082.5(DCTN1):c.1128-13C>T
|
|
|
NM_004082.5(DCTN1):c.1128-15C>G
|
|
|
NM_004082.5(DCTN1):c.1128-16C>T
|
rs2103656711
|
|
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu)
|
rs570863800
|
|
NM_004082.5(DCTN1):c.1132C>T (p.Arg378Trp)
|
|
|
NM_004082.5(DCTN1):c.1133G>A (p.Arg378Gln)
|
|
|
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=)
|
rs886056332
|
|
NM_004082.5(DCTN1):c.1161G>A (p.Glu387=)
|
rs72659373
|
|
NM_004082.5(DCTN1):c.1165G>A (p.Val389Met)
|
|
|
NM_004082.5(DCTN1):c.1170G>A (p.Lys390=)
|
rs1674741348
|
|
NM_004082.5(DCTN1):c.1179G>C (p.Lys393Asn)
|
rs1674740605
|
|
NM_004082.5(DCTN1):c.1199A>C (p.Gln400Pro)
|
|
|
NM_004082.5(DCTN1):c.11G>A (p.Ser4Asn)
|
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|
NM_004082.5(DCTN1):c.1200A>G (p.Gln400=)
|
|
|
NM_004082.5(DCTN1):c.1203G>T (p.Glu401Asp)
|
rs2103655781
|
|
NM_004082.5(DCTN1):c.121C>T (p.Arg41Ter)
|
rs2103723456
|
|
NM_004082.5(DCTN1):c.1227G>C (p.Arg409=)
|
rs2103655320
|
|
NM_004082.5(DCTN1):c.1231C>T (p.Arg411Cys)
|
|
|
NM_004082.5(DCTN1):c.1232G>A (p.Arg411His)
|
|
|
NM_004082.5(DCTN1):c.1232G>T (p.Arg411Leu)
|
rs186892779
|
|
NM_004082.5(DCTN1):c.1248A>G (p.Leu416=)
|
rs2103655091
|
|
NM_004082.5(DCTN1):c.1251C>T (p.Ser417=)
|
rs1553465163
|
|
NM_004082.5(DCTN1):c.1259A>G (p.Glu420Gly)
|
rs1674734372
|
|
NM_004082.5(DCTN1):c.1274A>C (p.Glu425Ala)
|
rs2103654759
|
|
NM_004082.5(DCTN1):c.1284G>A (p.Glu428=)
|
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|
NM_004082.5(DCTN1):c.1287+12C>T
|
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|
NM_004082.5(DCTN1):c.1287+5G>A
|
|
|
NM_004082.5(DCTN1):c.1288-10C>G
|
rs72659375
|
|
NM_004082.5(DCTN1):c.1288-12C>T
|
|
|
NM_004082.5(DCTN1):c.1288-19T>C
|
rs2103653681
|
|
NM_004082.5(DCTN1):c.1288-1G>A
|
rs2103653438
|
|
NM_004082.5(DCTN1):c.1288-20C>T
|
|
|
NM_004082.5(DCTN1):c.1288-7_1289del
|
rs1674719585
|
|
NM_004082.5(DCTN1):c.1288G>A (p.Val430Met)
|
|
|
NM_004082.5(DCTN1):c.1292A>G (p.Asp431Gly)
|
|
|
NM_004082.5(DCTN1):c.1316T>C (p.Met439Thr)
|
rs1573161529
|
|
NM_004082.5(DCTN1):c.1333G>C (p.Asp445His)
|
|
|
NM_004082.5(DCTN1):c.1335T>C (p.Asp445=)
|
|
|
NM_004082.5(DCTN1):c.1340A>G (p.Asn447Ser)
|
|
|
NM_004082.5(DCTN1):c.1347T>A (p.Asn449Lys)
|
rs2103652994
|
|
NM_004082.5(DCTN1):c.1356G>A (p.Glu452=)
|
|
|
NM_004082.5(DCTN1):c.1366G>A (p.Glu456Lys)
|
rs2103652794
|
|
NM_004082.5(DCTN1):c.1388A>G (p.Asp463Gly)
|
rs1558941192
|
|
NM_004082.5(DCTN1):c.1392+13C>T
|
rs2103652491
|
|
NM_004082.5(DCTN1):c.1392+7G>A
|
|
|
NM_004082.5(DCTN1):c.1392+8_1392+9del
|
rs1573161311
|
|
NM_004082.5(DCTN1):c.1393-13T>C
|
|
|
NM_004082.5(DCTN1):c.1393-17_1393-16del
|
|
|
NM_004082.5(DCTN1):c.1393-4C>T
|
|
|
NM_004082.5(DCTN1):c.1393-4del
|
|
|
NM_004082.5(DCTN1):c.1393-7G>A
|
rs886056330
|
|
NM_004082.5(DCTN1):c.1393-7G>T
|
rs886056330
|
|
NM_004082.5(DCTN1):c.1393-8T>C
|
rs886056331
|
|
NM_004082.5(DCTN1):c.1393-9_1393-7del
|
rs1452712153
|
|
NM_004082.5(DCTN1):c.1396G>A (p.Ala466Thr)
|
|
|
NM_004082.5(DCTN1):c.1397C>T (p.Ala466Val)
|
|
|
NM_004082.5(DCTN1):c.1398G>C (p.Ala466=)
|
|
|
NM_004082.5(DCTN1):c.1408A>G (p.Met470Val)
|
|
|
NM_004082.5(DCTN1):c.1414G>A (p.Asp472Asn)
|
|
|
NM_004082.5(DCTN1):c.1425G>A (p.Gln475=)
|
|
|
NM_004082.5(DCTN1):c.142_143delinsAT (p.Gly48Ile)
|
rs1573179028
|
|
NM_004082.5(DCTN1):c.1435C>T (p.Arg479Cys)
|
rs1558940606
|
|
NM_004082.5(DCTN1):c.1436G>T (p.Arg479Leu)
|
|
|
NM_004082.5(DCTN1):c.1447C>A (p.Leu483Met)
|
|
|
NM_004082.5(DCTN1):c.1461G>A (p.Glu487=)
|
rs758555575
|
|
NM_004082.5(DCTN1):c.1481C>A (p.Ala494Glu)
|
|
|
NM_004082.5(DCTN1):c.1499A>G (p.Gln500Arg)
|
|
|
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys)
|
rs145958900
|
|
NM_004082.5(DCTN1):c.150A>G (p.Thr50=)
|
rs1295226562
|
|
NM_004082.5(DCTN1):c.1514C>T (p.Ala505Val)
|
|
|
NM_004082.5(DCTN1):c.153G>C (p.Leu51=)
|
rs765144648
|
|
NM_004082.5(DCTN1):c.1542G>A (p.Gln514=)
|
rs2103646064
|
|
NM_004082.5(DCTN1):c.1552AAG[1] (p.Lys519del)
|
rs2103645875
|
|
NM_004082.5(DCTN1):c.155T>C (p.Phe52Ser)
|
rs2103723246
|
|
NM_004082.5(DCTN1):c.1562G>A (p.Arg521His)
|
|
|
NM_004082.5(DCTN1):c.1572C>T (p.Thr524=)
|
|
|
NM_004082.5(DCTN1):c.1581A>G (p.Leu527=)
|
|
|
NM_004082.5(DCTN1):c.1584+12C>T
|
|
|
NM_004082.5(DCTN1):c.1584+18G>A
|
|
|
NM_004082.5(DCTN1):c.1584+19C>A
|
|
|
NM_004082.5(DCTN1):c.1584+20T>C
|
rs1441516485
|
|
NM_004082.5(DCTN1):c.1584+2T>C
|
|
|
NM_004082.5(DCTN1):c.1584+5A>G
|
rs1283119090
|
|
NM_004082.5(DCTN1):c.1584+9C>T
|
rs751116557
|
|
NM_004082.5(DCTN1):c.1585-11T>C
|
rs2103645005
|
|
NM_004082.5(DCTN1):c.1585-12C>T
|
|
|
NM_004082.5(DCTN1):c.1585-13TC[2]
|
rs777190760
|
|
NM_004082.5(DCTN1):c.1585-14G>C
|
|
|
NM_004082.5(DCTN1):c.1585-16C>T
|
|
|
NM_004082.5(DCTN1):c.1585-17A>G
|
|
|
NM_004082.5(DCTN1):c.1585-20T>C
|
|
|
NM_004082.5(DCTN1):c.1585-4C>G
|
|
|
NM_004082.5(DCTN1):c.1585-6T>C
|
rs2103644864
|
|
NM_004082.5(DCTN1):c.1592A>G (p.Asn531Ser)
|
rs367910524
|
|
NM_004082.5(DCTN1):c.1594C>T (p.Arg532Trp)
|
|
|
NM_004082.5(DCTN1):c.1595G>T (p.Arg532Leu)
|
rs759306485
|
|
NM_004082.5(DCTN1):c.1602G>C (p.Leu534=)
|
|
|
NM_004082.5(DCTN1):c.1606A>C (p.Asn536His)
|
rs1553464927
|
|
NM_004082.5(DCTN1):c.1615G>A (p.Glu539Lys)
|
|
|
NM_004082.5(DCTN1):c.1616A>G (p.Glu539Gly)
|
|
|
NM_004082.5(DCTN1):c.1618G>A (p.Ala540Thr)
|
|
|
NM_004082.5(DCTN1):c.161C>T (p.Thr54Ile)
|
|
|
NM_004082.5(DCTN1):c.1626G>A (p.Val542=)
|
rs2103644312
|
|
NM_004082.5(DCTN1):c.1629G>A (p.Glu543=)
|
|
|
NM_004082.5(DCTN1):c.1635A>G (p.Gln545=)
|
|
|
NM_004082.5(DCTN1):c.1636C>T (p.Gln546Ter)
|
|
|
NM_004082.5(DCTN1):c.1649C>T (p.Pro550Leu)
|
rs2103644049
|
|
NM_004082.5(DCTN1):c.1659T>C (p.Phe553=)
|
|
|
NM_004082.5(DCTN1):c.1662C>T (p.Asp554=)
|
rs188566922
|
|
NM_004082.5(DCTN1):c.1667A>G (p.Lys556Arg)
|
|
|
NM_004082.5(DCTN1):c.1671C>T (p.Ile557=)
|
|
|
NM_004082.5(DCTN1):c.1679C>A (p.Ala560Asp)
|
|
|
NM_004082.5(DCTN1):c.1683G>A (p.Glu561=)
|
rs1573158885
|
|
NM_004082.5(DCTN1):c.1684A>T (p.Thr562Ser)
|
|
|
NM_004082.5(DCTN1):c.1685C>T (p.Thr562Ile)
|
|
|
NM_004082.5(DCTN1):c.1697C>G (p.Ala566Gly)
|
|
|
NM_004082.5(DCTN1):c.1701+10G>C
|
rs2103643570
|
|
NM_004082.5(DCTN1):c.1702-19C>T
|
|
|
NM_004082.5(DCTN1):c.1702-20C>T
|
|
|
NM_004082.5(DCTN1):c.1702-3C>A
|
|
|
NM_004082.5(DCTN1):c.1702-7C>G
|
|
|
NM_004082.5(DCTN1):c.1702G>A (p.Ala568Thr)
|
|
|
NM_004082.5(DCTN1):c.1706T>A (p.Ile569Asn)
|
rs1553464828
|
|
NM_004082.5(DCTN1):c.1706T>C (p.Ile569Thr)
|
|
|
NM_004082.5(DCTN1):c.1707T>C (p.Ile569=)
|
rs765410716
|
|
NM_004082.5(DCTN1):c.1719G>T (p.Leu573Phe)
|
|
|
NM_004082.5(DCTN1):c.1727T>C (p.Met576Thr)
|
rs2103640952
|
|
NM_004082.5(DCTN1):c.1732G>A (p.Val578Met)
|
rs1674617834
|
|
NM_004082.5(DCTN1):c.1741G>T (p.Ala581Ser)
|
|
|
NM_004082.5(DCTN1):c.1747C>G (p.Arg583Gly)
|
rs1288295388
|
|
NM_004082.5(DCTN1):c.1750C>A (p.His584Asn)
|
rs2103640754
|
|
NM_004082.5(DCTN1):c.1752C>A (p.His584Gln)
|
rs1345909454
|
|
NM_004082.5(DCTN1):c.1758C>A (p.Ser586=)
|
rs773517017
|
|
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)
|
rs121909342
|
|
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg)
|
rs121909342
|
|
NM_004082.5(DCTN1):c.1761G>C (p.Leu587=)
|
|
|
NM_004082.5(DCTN1):c.1774A>C (p.Met592Leu)
|
|
|
NM_004082.5(DCTN1):c.1777C>T (p.Pro593Ser)
|
|
|
NM_004082.5(DCTN1):c.1788C>A (p.Phe596Leu)
|
|
|
NM_004082.5(DCTN1):c.178G>A (p.Val60Met)
|
rs74768853
|
|
NM_004082.5(DCTN1):c.1799G>A (p.Gly600Asp)
|
|
|
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn)
|
rs1558939544
|
|
NM_004082.5(DCTN1):c.1808A>G (p.His603Arg)
|
|
|
NM_004082.5(DCTN1):c.1813T>G (p.Cys605Gly)
|
rs1674611581
|
|
NM_004082.5(DCTN1):c.1814G>A (p.Cys605Tyr)
|
|
|
NM_004082.5(DCTN1):c.1827G>A (p.Leu609=)
|
|
|
NM_004082.5(DCTN1):c.1834A>T (p.Met612Leu)
|
|
|
NM_004082.5(DCTN1):c.1840C>T (p.Arg614Cys)
|
rs1674609133
|
|
NM_004082.5(DCTN1):c.1841G>A (p.Arg614His)
|
|
|
NM_004082.5(DCTN1):c.1844T>A (p.Leu615His)
|
rs1674608736
|
|
NM_004082.5(DCTN1):c.1854+10A>G
|
|
|
NM_004082.5(DCTN1):c.1854+18C>T
|
|
|
NM_004082.5(DCTN1):c.1854+20T>A
|
rs369606521
|
|
NM_004082.5(DCTN1):c.1854+9A>G
|
|
|
NM_004082.5(DCTN1):c.1855-7C>T
|
rs2103634309
|
|
NM_004082.5(DCTN1):c.1862T>G (p.Leu621Arg)
|
|
|
NM_004082.5(DCTN1):c.1863G>C (p.Leu621=)
|
rs2103634135
|
|
NM_004082.5(DCTN1):c.1864A>T (p.Ile622Phe)
|
rs1328116832
|
|
NM_004082.5(DCTN1):c.1867C>A (p.Arg623=)
|
rs764568642
|
|
NM_004082.5(DCTN1):c.1873C>T (p.Gln625Ter)
|
rs1674561364
|
|
NM_004082.5(DCTN1):c.187G>A (p.Asp63Asn)
|
|
|
NM_004082.5(DCTN1):c.1882_1884del (p.Glu628del)
|
|
|
NM_004082.5(DCTN1):c.1902G>T (p.Glu634Asp)
|
|
|
NM_004082.5(DCTN1):c.1904A>G (p.Asn635Ser)
|
|
|
NM_004082.5(DCTN1):c.1912G>A (p.Glu638Lys)
|
|
|
NM_004082.5(DCTN1):c.1912G>C (p.Glu638Gln)
|
|
|
NM_004082.5(DCTN1):c.1915C>T (p.Arg639Trp)
|
|
|
NM_004082.5(DCTN1):c.1916G>A (p.Arg639Gln)
|
|
|
NM_004082.5(DCTN1):c.1916G>T (p.Arg639Leu)
|
rs201095249
|
|
NM_004082.5(DCTN1):c.1927C>T (p.Arg643Ter)
|
rs866457869
|
|
NM_004082.5(DCTN1):c.1928G>A (p.Arg643Gln)
|
rs555733849
|
|
NM_004082.5(DCTN1):c.1931G>T (p.Gly644Val)
|
|
|
NM_004082.5(DCTN1):c.1982G>T (p.Ser661Ile)
|
rs1558938711
|
|
NM_004082.5(DCTN1):c.1983C>A (p.Ser661Arg)
|
rs2103632771
|
|
NM_004082.5(DCTN1):c.1986G>A (p.Leu662=)
|
rs1409478361
|
|
NM_004082.5(DCTN1):c.1995C>A (p.Ala665=)
|
rs767698839
|
|
NM_004082.5(DCTN1):c.2004C>T (p.His668=)
|
|
|
NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)
|
rs886039228
|
|
NM_004082.5(DCTN1):c.2014C>G (p.His672Asp)
|
|
|
NM_004082.5(DCTN1):c.2015+19C>A
|
|
|
NM_004082.5(DCTN1):c.2015+1G>C
|
rs2103632452
|
|
NM_004082.5(DCTN1):c.2015+5G>A
|
rs770696267
|
|
NM_004082.5(DCTN1):c.2016-12T>C
|
|
|
NM_004082.5(DCTN1):c.2016-3T>C
|
|
|
NM_004082.5(DCTN1):c.2016-6C>A
|
rs1573155729
|
|
NM_004082.5(DCTN1):c.2020C>A (p.Leu674Ile)
|
|
|
NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe)
|
rs368531137
|
|
NM_004082.5(DCTN1):c.2024C>G (p.Ser675Cys)
|
|
|
NM_004082.5(DCTN1):c.2026C>T (p.Gln676Ter)
|
|
|
NM_004082.5(DCTN1):c.2031C>T (p.Cys677=)
|
rs112930313
|
|
NM_004082.5(DCTN1):c.2033G>C (p.Ser678Thr)
|
|
|
NM_004082.5(DCTN1):c.2034T>C (p.Ser678=)
|
|
|
NM_004082.5(DCTN1):c.2039A>G (p.Asp680Gly)
|
rs2103630948
|
|
NM_004082.5(DCTN1):c.2060G>C (p.Ser687Thr)
|
|
|
NM_004082.5(DCTN1):c.2065T>A (p.Tyr689Asn)
|
rs72659377
|
|
NM_004082.5(DCTN1):c.2069C>T (p.Pro690Leu)
|
|
|
NM_004082.5(DCTN1):c.2071G>C (p.Glu691Gln)
|
rs1674536343
|
|
NM_004082.5(DCTN1):c.2080G>A (p.Ala694Thr)
|
rs2103630505
|
|
NM_004082.5(DCTN1):c.2088G>A (p.Glu696=)
|
|
|
NM_004082.5(DCTN1):c.2089C>T (p.Arg697Cys)
|
rs1674533703
|
|
NM_004082.5(DCTN1):c.2091C>G (p.Arg697=)
|
|
|
NM_004082.5(DCTN1):c.2093C>T (p.Ser698Phe)
|
|
|
NM_004082.5(DCTN1):c.2103C>T (p.Phe701=)
|
|
|
NM_004082.5(DCTN1):c.2104C>T (p.Leu702Phe)
|
rs374500944
|
|
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)
|
rs67586389
|
|
NM_004082.5(DCTN1):c.2140A>G (p.Thr714Ala)
|
|
|
NM_004082.5(DCTN1):c.2142T>C (p.Thr714=)
|
|
|
NM_004082.5(DCTN1):c.2147A>C (p.Asn716Thr)
|
|
|
NM_004082.5(DCTN1):c.2154G>A (p.Glu718=)
|
|
|
NM_004082.5(DCTN1):c.2161A>G (p.Thr721Ala)
|
|
|
NM_004082.5(DCTN1):c.2163C>T (p.Thr721=)
|
|
|
NM_004082.5(DCTN1):c.2165A>C (p.Lys722Thr)
|
|
|
NM_004082.5(DCTN1):c.2180A>G (p.Tyr727Cys)
|
rs1287560245
|
|
NM_004082.5(DCTN1):c.2184+16T>C
|
|
|
NM_004082.5(DCTN1):c.2184+19G>A
|
rs1349408124
|
|
NM_004082.5(DCTN1):c.2185-15G>C
|
|
|
NM_004082.5(DCTN1):c.2185-17_2185-14del
|
|
|
NM_004082.5(DCTN1):c.2185-3C>T
|
|
|
NM_004082.5(DCTN1):c.2186A>G (p.His729Arg)
|
|
|
NM_004082.5(DCTN1):c.2194A>G (p.Ser732Gly)
|
|
|
NM_004082.5(DCTN1):c.2202C>T (p.His734=)
|
rs2103626323
|
|
NM_004082.5(DCTN1):c.2206G>A (p.Ala736Thr)
|
|
|
NM_004082.5(DCTN1):c.2208C>G (p.Ala736=)
|
|
|
NM_004082.5(DCTN1):c.2214G>T (p.Gln738His)
|
|
|
NM_004082.5(DCTN1):c.2217T>G (p.Pro739=)
|
rs1553464448
|
|
NM_004082.5(DCTN1):c.221A>G (p.Gln74Arg)
|
|
|
NM_004082.5(DCTN1):c.2221G>A (p.Asp741Asn)
|
|
|
NM_004082.5(DCTN1):c.2221G>C (p.Asp741His)
|
|
|
NM_004082.5(DCTN1):c.2230A>G (p.Met744Val)
|
|
|
NM_004082.5(DCTN1):c.2237T>C (p.Leu746Pro)
|
rs1674497225
|
|
NM_004082.5(DCTN1):c.2238G>A (p.Leu746=)
|
rs1553464441
|
|
NM_004082.5(DCTN1):c.223G>A (p.Gly75Ser)
|
rs2103722715
|
|
NM_004082.5(DCTN1):c.2253+13G>A
|
|
|
NM_004082.5(DCTN1):c.2253+14G>T
|
rs2103625486
|
|
NM_004082.5(DCTN1):c.2253+16C>T
|
|
|
NM_004082.5(DCTN1):c.2254-18A>G
|
|
|
NM_004082.5(DCTN1):c.2254-8C>T
|
rs1674478166
|
|
NM_004082.5(DCTN1):c.2254T>C (p.Phe752Leu)
|
|
|
NM_004082.5(DCTN1):c.2259G>A (p.Thr753=)
|
|
|
NM_004082.5(DCTN1):c.2259G>C (p.Thr753=)
|
rs200275059
|
|
NM_004082.5(DCTN1):c.2264dup (p.Ser755fs)
|
|
|
NM_004082.5(DCTN1):c.2267C>T (p.Ala756Val)
|
|
|
NM_004082.5(DCTN1):c.2275T>C (p.Cys759Arg)
|
rs2104418971
|
|
NM_004082.5(DCTN1):c.2283T>C (p.Ser761=)
|
rs879630850
|
|
NM_004082.5(DCTN1):c.2292A>G (p.Val764=)
|
rs1290529283
|
|
NM_004082.5(DCTN1):c.2294G>A (p.Gly765Glu)
|
rs1410846987
|
|
NM_004082.5(DCTN1):c.2301G>A (p.Leu767=)
|
|
|
NM_004082.5(DCTN1):c.2302C>T (p.Arg768Cys)
|
|
|
NM_004082.5(DCTN1):c.2316+15A>G
|
|
|
NM_004082.5(DCTN1):c.2316+5G>A
|
rs913439751
|
|
NM_004082.5(DCTN1):c.2317-15C>G
|
|
|
NM_004082.5(DCTN1):c.2317-16T>C
|
rs1674462194
|
|
NM_004082.5(DCTN1):c.2317-19T>C
|
|
|
NM_004082.5(DCTN1):c.2317-20A>G
|
|
|
NM_004082.5(DCTN1):c.2317-2A>T
|
rs980571603
|
|
NM_004082.5(DCTN1):c.231G>A (p.Lys77=)
|
|
|
NM_004082.5(DCTN1):c.2320G>A (p.Gly774Arg)
|
|
|
NM_004082.5(DCTN1):c.2328G>A (p.Glu776=)
|
rs2104417915
|
|
NM_004082.5(DCTN1):c.232T>C (p.Tyr78His)
|
rs1558948987
|
|
NM_004082.5(DCTN1):c.2332A>G (p.Thr778Ala)
|
|
|
NM_004082.5(DCTN1):c.2338A>G (p.Ile780Val)
|
rs1558937413
|
|
NM_004082.5(DCTN1):c.2344C>G (p.Leu782Val)
|
rs2104417734
|
|
NM_004082.5(DCTN1):c.2354G>A (p.Arg785Gln)
|
|
|
NM_004082.5(DCTN1):c.2359C>G (p.Leu787Val)
|
rs2104417597
|
|
NM_004082.5(DCTN1):c.2367T>G (p.Thr789=)
|
rs994669046
|
|
NM_004082.5(DCTN1):c.2367_2368del (p.Ser790fs)
|
|
|
NM_004082.5(DCTN1):c.2371T>C (p.Cys791Arg)
|
rs1297844991
|
|
NM_004082.5(DCTN1):c.2377G>A (p.Asp793Asn)
|
|
|
NM_004082.5(DCTN1):c.2382C>A (p.Ile794=)
|
rs142107482
|
|
NM_004082.5(DCTN1):c.2387A>G (p.Gln796Arg)
|
rs1674452900
|
|
NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)
|
|
|
NM_004082.5(DCTN1):c.2401A>G (p.Ile801Val)
|
rs573330919
|
|
NM_004082.5(DCTN1):c.2405G>A (p.Arg802Gln)
|
|
|
NM_004082.5(DCTN1):c.2410C>T (p.Arg804Ter)
|
rs1674450649
|
|
NM_004082.5(DCTN1):c.2418A>G (p.Pro806=)
|
rs2104417117
|
|
NM_004082.5(DCTN1):c.2427T>G (p.Asp809Glu)
|
rs1573152954
|
|
NM_004082.5(DCTN1):c.2429C>G (p.Ala810Gly)
|
rs372500630
|
|
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg)
|
rs150928856
|
|
NM_004082.5(DCTN1):c.2432C>T (p.Pro811Leu)
|
|
|
NM_004082.5(DCTN1):c.2442A>G (p.Pro814=)
|
rs2104416925
|
|
NM_004082.5(DCTN1):c.2454C>G (p.Ala818=)
|
rs766673794
|
|
NM_004082.5(DCTN1):c.2462C>G (p.Pro821Arg)
|
|
|
NM_004082.5(DCTN1):c.2466+17G>C
|
rs2104416659
|
|
NM_004082.5(DCTN1):c.2467-17T>C
|
|
|
NM_004082.5(DCTN1):c.2467-7C>G
|
|
|
NM_004082.5(DCTN1):c.2467-8G>A
|
|
|
NM_004082.5(DCTN1):c.2469A>G (p.Val823=)
|
|
|
NM_004082.5(DCTN1):c.2480T>C (p.Leu827Pro)
|
rs1470946965
|
|
NM_004082.5(DCTN1):c.2493G>C (p.Arg831Ser)
|
|
|
NM_004082.5(DCTN1):c.2496A>G (p.Lys832=)
|
|
|
NM_004082.5(DCTN1):c.24G>A (p.Val8=)
|
|
|
NM_004082.5(DCTN1):c.2504C>T (p.Thr835Met)
|
|
|
NM_004082.5(DCTN1):c.2512G>A (p.Val838Met)
|
|
|
NM_004082.5(DCTN1):c.2520G>A (p.Val840=)
|
rs2104415505
|
|
NM_004082.5(DCTN1):c.2525A>G (p.Gln842Arg)
|
rs2104415444
|
|
NM_004082.5(DCTN1):c.2549A>T (p.Gln850Leu)
|
rs75213803
|
|
NM_004082.5(DCTN1):c.2550G>C (p.Gln850His)
|
rs2104415238
|
|
NM_004082.5(DCTN1):c.2575G>A (p.Glu859Lys)
|
|
|
NM_004082.5(DCTN1):c.2596C>G (p.Leu866Val)
|
|
|
NM_004082.5(DCTN1):c.2608G>A (p.Ala870Thr)
|
rs1267339489
|
|
NM_004082.5(DCTN1):c.2612T>C (p.Phe871Ser)
|
|
|
NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)
|
|
|
NM_004082.5(DCTN1):c.2628+11A>G
|
|
|
NM_004082.5(DCTN1):c.2628+3G>A
|
|
|
NM_004082.5(DCTN1):c.2628+5G>T
|
|
|
NM_004082.5(DCTN1):c.2629-13T>C
|
|
|
NM_004082.5(DCTN1):c.2629-18T>C
|
|
|
NM_004082.5(DCTN1):c.2629-7C>A
|
rs1278207608
|
|
NM_004082.5(DCTN1):c.2642C>G (p.Pro881Arg)
|
|
|
NM_004082.5(DCTN1):c.2676A>G (p.Ser892=)
|
|
|
NM_004082.5(DCTN1):c.2677T>A (p.Cys893Ser)
|
|
|
NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp)
|
rs1437825772
|
|
NM_004082.5(DCTN1):c.2681A>G (p.Asn894Ser)
|
rs1207333910
|
|
NM_004082.5(DCTN1):c.2688C>T (p.Leu896=)
|
|
|
NM_004082.5(DCTN1):c.269G>A (p.Arg90His)
|
|
|
NM_004082.5(DCTN1):c.2705A>G (p.Lys902Arg)
|
|
|
NM_004082.5(DCTN1):c.2706G>A (p.Lys902=)
|
|
|
NM_004082.5(DCTN1):c.2711C>T (p.Ala904Val)
|
|
|
NM_004082.5(DCTN1):c.2719A>G (p.Met907Val)
|
rs1459064982
|
|
NM_004082.5(DCTN1):c.2731dup (p.Glu911fs)
|
rs1573151165
|
|
NM_004082.5(DCTN1):c.2738A>G (p.Asp913Gly)
|
|
|
NM_004082.5(DCTN1):c.2749C>T (p.Pro917Ser)
|
|
|
NM_004082.5(DCTN1):c.2760+10G>C
|
rs2104413368
|
|
NM_004082.5(DCTN1):c.2760+11A>G
|
|
|
NM_004082.5(DCTN1):c.2760+18T>C
|
|
|
NM_004082.5(DCTN1):c.2760+8G>A
|
|
|
NM_004082.5(DCTN1):c.2761-13_2761-10dup
|
rs1308261864
|
|
NM_004082.5(DCTN1):c.2761-14C>T
|
|
|
NM_004082.5(DCTN1):c.2761-16A>C
|
|
|
NM_004082.5(DCTN1):c.2761-16A>G
|
|
|
NM_004082.5(DCTN1):c.2761-19C>G
|
rs200545447
|
|
NM_004082.5(DCTN1):c.2761-19C>T
|
|
|
NM_004082.5(DCTN1):c.2761-20C>G
|
|
|
NM_004082.5(DCTN1):c.2761C>G (p.Pro921Ala)
|
|
|
NM_004082.5(DCTN1):c.2768C>T (p.Pro923Leu)
|
|
|
NM_004082.5(DCTN1):c.2769G>A (p.Pro923=)
|
|
|
NM_004082.5(DCTN1):c.2782G>A (p.Ala928Thr)
|
rs1674377455
|
|
NM_004082.5(DCTN1):c.279+11C>A
|
|
|
NM_004082.5(DCTN1):c.279+1G>A
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>C
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>T
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+20G>T
|
|
|
NM_004082.5(DCTN1):c.279+2T>C
|
|
|
NM_004082.5(DCTN1):c.2793dup (p.Arg932fs)
|
rs1674376535
|
|
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys)
|
rs373818927
|
|
NM_004082.5(DCTN1):c.2795G>T (p.Arg932Leu)
|
|
|
NM_004082.5(DCTN1):c.279G>A (p.Gln93=)
|
rs1675325580
|
|
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
|
|
|
NM_004082.5(DCTN1):c.280-14del
|
|
|
NM_004082.5(DCTN1):c.280-34_280-12del
|
rs762313810
|
|
NM_004082.5(DCTN1):c.280-34_280-12dup
|
rs762313810
|
|
NM_004082.5(DCTN1):c.280-5C>T
|
rs1675307447
|
|
NM_004082.5(DCTN1):c.2802G>C (p.Glu934Asp)
|
rs1674375862
|
|
NM_004082.5(DCTN1):c.2808del (p.Asp937fs)
|
rs1674375059
|
|
NM_004082.5(DCTN1):c.2809G>A (p.Asp937Asn)
|
rs2104411784
|
|
NM_004082.5(DCTN1):c.280A>G (p.Ile94Val)
|
|
|
NM_004082.5(DCTN1):c.282C>A (p.Ile94=)
|
|
|
NM_004082.5(DCTN1):c.2835C>A (p.Leu945=)
|
rs138305126
|
|
NM_004082.5(DCTN1):c.2835C>T (p.Leu945=)
|
rs138305126
|
|
NM_004082.5(DCTN1):c.2871G>A (p.Lys957=)
|
|
|
NM_004082.5(DCTN1):c.2879A>G (p.Lys960Arg)
|
rs1354697657
|
|
NM_004082.5(DCTN1):c.287T>C (p.Val96Ala)
|
rs1675306520
|
|
NM_004082.5(DCTN1):c.2886+18T>C
|
rs1409532126
|
|
NM_004082.5(DCTN1):c.2886+19C>T
|
rs1417650041
|
|
NM_004082.5(DCTN1):c.2887-14C>G
|
|
|
NM_004082.5(DCTN1):c.2887-5T>A
|
|
|
NM_004082.5(DCTN1):c.2887-8T>A
|
|
|
NM_004082.5(DCTN1):c.2887G>C (p.Gly963Arg)
|
|
|
NM_004082.5(DCTN1):c.288A>G (p.Val96=)
|
rs1553466396
|
|
NM_004082.5(DCTN1):c.2895G>T (p.Glu965Asp)
|
|
|
NM_004082.5(DCTN1):c.2909A>G (p.Asn970Ser)
|
rs568812456
|
|
NM_004082.5(DCTN1):c.2926C>A (p.Leu976Met)
|
rs2104409827
|
|
NM_004082.5(DCTN1):c.2927T>C (p.Leu976Pro)
|
|
|
NM_004082.5(DCTN1):c.2932AAG[1] (p.Lys979del)
|
rs1371339798
|
|
NM_004082.5(DCTN1):c.2937G>A (p.Lys979=)
|
|
|
NM_004082.5(DCTN1):c.2938T>A (p.Leu980Met)
|
|
|
NM_004082.5(DCTN1):c.2951C>T (p.Ala984Val)
|
|
|
NM_004082.5(DCTN1):c.2963A>T (p.Asp988Val)
|
|
|
NM_004082.5(DCTN1):c.2964T>A (p.Asp988Glu)
|
rs1674344495
|
|
NM_004082.5(DCTN1):c.2964T>G (p.Asp988Glu)
|
|
|
NM_004082.5(DCTN1):c.2968C>T (p.Arg990Cys)
|
|
|
NM_004082.5(DCTN1):c.2969G>T (p.Arg990Leu)
|
|
|
NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met)
|
rs140969689
|
|
NM_004082.5(DCTN1):c.2973C>T (p.Ile991=)
|
|
|
NM_004082.5(DCTN1):c.2974G>A (p.Glu992Lys)
|
rs768409522
|
|
NM_004082.5(DCTN1):c.2986A>G (p.Thr996Ala)
|
rs1558935430
|
|
NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp)
|
rs1030053524
|
|
NM_004082.5(DCTN1):c.2991G>C (p.Arg997=)
|
|
|
NM_004082.5(DCTN1):c.2992C>T (p.Leu998=)
|
|
|
NM_004082.5(DCTN1):c.3012G>T (p.Leu1004=)
|
|
|
NM_004082.5(DCTN1):c.3017G>A (p.Arg1006Gln)
|
rs752882353
|
|
NM_004082.5(DCTN1):c.3024G>A (p.Lys1008=)
|
|
|
NM_004082.5(DCTN1):c.3029+12T>G
|
|
|
NM_004082.5(DCTN1):c.3029+16T>C
|
|
|
NM_004082.5(DCTN1):c.3029+19G>T
|
rs201665169
|
|
NM_004082.5(DCTN1):c.3029+5G>A
|
|
|
NM_004082.5(DCTN1):c.3030-20G>A
|
|
|
NM_004082.5(DCTN1):c.3034T>C (p.Phe1012Leu)
|
rs1674319515
|
|
NM_004082.5(DCTN1):c.3045A>G (p.Thr1015=)
|
|
|
NM_004082.5(DCTN1):c.3046A>G (p.Met1016Val)
|
|
|
NM_004082.5(DCTN1):c.305A>G (p.Asp102Gly)
|
|
|
NM_004082.5(DCTN1):c.3067A>G (p.Ile1023Val)
|
|
|
NM_004082.5(DCTN1):c.3070G>A (p.Asp1024Asn)
|
rs1558935068
|
|
NM_004082.5(DCTN1):c.3096A>G (p.Glu1032=)
|
|
|
NM_004082.5(DCTN1):c.3106C>T (p.Arg1036Cys)
|
|
|
NM_004082.5(DCTN1):c.310A>G (p.Thr104Ala)
|
|
|
NM_004082.5(DCTN1):c.3125A>G (p.Lys1042Arg)
|
|
|
NM_004082.5(DCTN1):c.3129C>T (p.Arg1043=)
|
rs1354118647
|
|
NM_004082.5(DCTN1):c.3131C>T (p.Thr1044Met)
|
|
|
NM_004082.5(DCTN1):c.3132G>A (p.Thr1044=)
|
rs375157202
|
|
NM_004082.5(DCTN1):c.3133A>T (p.Ile1045Phe)
|
|
|
NM_004082.5(DCTN1):c.3134T>C (p.Ile1045Thr)
|
rs1187766749
|
|
NM_004082.5(DCTN1):c.3157C>G (p.Pro1053Ala)
|
|
|
NM_004082.5(DCTN1):c.3157C>T (p.Pro1053Ser)
|
|
|
NM_004082.5(DCTN1):c.316C>G (p.Pro106Ala)
|
|
|
NM_004082.5(DCTN1):c.3172A>T (p.Thr1058Ser)
|
rs1470101332
|
|
NM_004082.5(DCTN1):c.3174T>G (p.Thr1058=)
|
rs2104406793
|
|
NM_004082.5(DCTN1):c.3175C>G (p.Leu1059Val)
|
rs752323459
|
|
NM_004082.5(DCTN1):c.3177G>A (p.Leu1059=)
|
rs1213472053
|
|
NM_004082.5(DCTN1):c.3196+16T>C
|
rs773177686
|
|
NM_004082.5(DCTN1):c.3196+19G>A
|
rs1371299263
|
|
NM_004082.5(DCTN1):c.3197-11C>G
|
rs374292466
|
|
NM_004082.5(DCTN1):c.3197-16G>T
|
|
|
NM_004082.5(DCTN1):c.3197-19T>C
|
rs1258376234
|
|
NM_004082.5(DCTN1):c.3197-20A>G
|
|
|
NM_004082.5(DCTN1):c.3197-6G>A
|
|
|
NM_004082.5(DCTN1):c.3197-9C>T
|
|
|
NM_004082.5(DCTN1):c.31C>T (p.Arg11Trp)
|
|
|
NM_004082.5(DCTN1):c.3209G>A (p.Arg1070Gln)
|
|
|
NM_004082.5(DCTN1):c.3211+13T>G
|
|
|
NM_004082.5(DCTN1):c.3211+14C>G
|
|
|
NM_004082.5(DCTN1):c.3211+19C>G
|
rs377261118
|
|
NM_004082.5(DCTN1):c.3211+19C>T
|
|
|
NM_004082.5(DCTN1):c.3211+20G>A
|
|
|
NM_004082.5(DCTN1):c.3211+9C>G
|
|
|
NM_004082.5(DCTN1):c.3212-14dup
|
|
|
NM_004082.5(DCTN1):c.3212-20A>T
|
|
|
NM_004082.5(DCTN1):c.3212-2A>G
|
rs1674169667
|
|
NM_004082.5(DCTN1):c.3212-3C>T
|
|
|
NM_004082.5(DCTN1):c.3219C>T (p.Ile1073=)
|
|
|
NM_004082.5(DCTN1):c.3236G>A (p.Gly1079Glu)
|
|
|
NM_004082.5(DCTN1):c.3259G>C (p.Val1087Leu)
|
|
|
NM_004082.5(DCTN1):c.325C>A (p.Pro109Thr)
|
|
|
NM_004082.5(DCTN1):c.325_327dup (p.Pro109_Asp110insPro)
|
|
|
NM_004082.5(DCTN1):c.3279G>T (p.Leu1093=)
|
|
|
NM_004082.5(DCTN1):c.3280C>T (p.Leu1094Phe)
|
rs762263842
|
|
NM_004082.5(DCTN1):c.3286C>A (p.Gln1096Lys)
|
rs1246390551
|
|
NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=)
|
|
|
NM_004082.5(DCTN1):c.3296C>T (p.Ala1099Val)
|
|
|
NM_004082.5(DCTN1):c.33+16C>G
|
|
|
NM_004082.5(DCTN1):c.33+16C>T
|
|
|
NM_004082.5(DCTN1):c.3303G>A (p.Arg1101=)
|
|
|
NM_004082.5(DCTN1):c.3310A>G (p.Ile1104Val)
|
|
|
NM_004082.5(DCTN1):c.3326A>G (p.His1109Arg)
|
rs1244901384
|
|
NM_004082.5(DCTN1):c.3328G>A (p.Glu1110Lys)
|
rs765267495
|
|
NM_004082.5(DCTN1):c.332C>A (p.Ser111Tyr)
|
rs374419252
|
|
NM_004082.5(DCTN1):c.332C>T (p.Ser111Phe)
|
|
|
NM_004082.5(DCTN1):c.3333C>T (p.Asn1111=)
|
|
|
NM_004082.5(DCTN1):c.3335G>C (p.Ser1112Thr)
|
|
|
NM_004082.5(DCTN1):c.3339C>A (p.Ile1113=)
|
|
|
NM_004082.5(DCTN1):c.3345+10C>T
|
rs1558932839
|
|
NM_004082.5(DCTN1):c.3345+17G>A
|
|
|
NM_004082.5(DCTN1):c.3345G>A (p.Lys1115=)
|
|
|
NM_004082.5(DCTN1):c.3346-17T>C
|
|
|
NM_004082.5(DCTN1):c.3350C>G (p.Ala1117Gly)
|
|
|
NM_004082.5(DCTN1):c.3375C>G (p.Ser1125=)
|
rs921121555
|
|
NM_004082.5(DCTN1):c.3378G>A (p.Leu1126=)
|
|
|
NM_004082.5(DCTN1):c.3391G>T (p.Val1131Phe)
|
rs1296558175
|
|
NM_004082.5(DCTN1):c.3397A>G (p.Lys1133Glu)
|
rs1064797254
|
|
NM_004082.5(DCTN1):c.34-13C>A
|
|
|
NM_004082.5(DCTN1):c.34-1G>C
|
|
|
NM_004082.5(DCTN1):c.34-20T>C
|
|
|
NM_004082.5(DCTN1):c.3400C>G (p.Leu1134Val)
|
|
|
NM_004082.5(DCTN1):c.3407A>G (p.His1136Arg)
|
rs1674138994
|
|
NM_004082.5(DCTN1):c.3408T>C (p.His1136=)
|
|
|
NM_004082.5(DCTN1):c.3417T>C (p.Pro1139=)
|
|
|
NM_004082.5(DCTN1):c.3420C>G (p.Gly1140=)
|
|
|
NM_004082.5(DCTN1):c.3422G>A (p.Ser1141Asn)
|
|
|
NM_004082.5(DCTN1):c.3425A>G (p.Glu1142Gly)
|
rs1573142045
|
|
NM_004082.5(DCTN1):c.3430C>A (p.Pro1144Thr)
|
rs1399568739
|
|
NM_004082.5(DCTN1):c.3434C>G (p.Ala1145Gly)
|
|
|
NM_004082.5(DCTN1):c.3445T>C (p.Tyr1149His)
|
|
|
NM_004082.5(DCTN1):c.345A>G (p.Lys115=)
|
rs1675303256
|
|
NM_004082.5(DCTN1):c.3461A>G (p.Gln1154Arg)
|
rs1674134327
|
|
NM_004082.5(DCTN1):c.3490A>T (p.Thr1164Ser)
|
rs72466493
|
|
NM_004082.5(DCTN1):c.3497C>G (p.Thr1166Arg)
|
rs376549770
|
|
NM_004082.5(DCTN1):c.3499C>A (p.His1167Asn)
|
rs2104395345
|
|
NM_004082.5(DCTN1):c.3511A>G (p.Ile1171Val)
|
|
|
NM_004082.5(DCTN1):c.3516T>G (p.Thr1172=)
|
|
|
NM_004082.5(DCTN1):c.3517C>T (p.Arg1173Cys)
|
rs1442881228
|
|
NM_004082.5(DCTN1):c.3529+13C>T
|
rs1674126281
|
|
NM_004082.5(DCTN1):c.3529+15A>G
|
|
|
NM_004082.5(DCTN1):c.3529+20C>T
|
rs890924549
|
|
NM_004082.5(DCTN1):c.3529+8C>G
|
|
|
NM_004082.5(DCTN1):c.3529+8C>T
|
rs547520298
|
|
NM_004082.5(DCTN1):c.3530-18A>G
|
rs767080798
|
|
NM_004082.5(DCTN1):c.3530-1G>A
|
rs2104393432
|
|
NM_004082.5(DCTN1):c.3537G>A (p.Lys1179=)
|
rs148146325
|
|
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn)
|
rs148146325
|
|
NM_004082.5(DCTN1):c.3540C>T (p.Ser1180=)
|
|
|
NM_004082.5(DCTN1):c.3542C>G (p.Pro1181Arg)
|
rs1403208705
|
|
NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu)
|
rs1403208705
|
|
NM_004082.5(DCTN1):c.3547G>T (p.Ala1183Ser)
|
rs886056329
|
|
NM_004082.5(DCTN1):c.3556A>G (p.Met1186Val)
|
rs1477782343
|
|
NM_004082.5(DCTN1):c.3559G>C (p.Glu1187Gln)
|
rs1485769288
|
|
NM_004082.5(DCTN1):c.3564A>G (p.Gln1188=)
|
rs1674099395
|
|
NM_004082.5(DCTN1):c.3568G>T (p.Ala1190Ser)
|
|
|
NM_004082.5(DCTN1):c.3571C>A (p.Gln1191Lys)
|
|
|
NM_004082.5(DCTN1):c.358+17_358+18insGA
|
rs2103719288
|
|
NM_004082.5(DCTN1):c.3580T>G (p.Ser1194Ala)
|
|
|
NM_004082.5(DCTN1):c.3584T>G (p.Leu1195Arg)
|
|
|
NM_004082.5(DCTN1):c.359-6C>T
|
|
|
NM_004082.5(DCTN1):c.3595G>A (p.Val1199Ile)
|
rs538291598
|
|
NM_004082.5(DCTN1):c.3609+17dup
|
|
|
NM_004082.5(DCTN1):c.3609+20C>T
|
|
|
NM_004082.5(DCTN1):c.3610-13_3612del
|
rs2104389854
|
|
NM_004082.5(DCTN1):c.3610-16C>T
|
|
|
NM_004082.5(DCTN1):c.3610-17C>G
|
rs2104390002
|
|
NM_004082.5(DCTN1):c.3610-20C>T
|
|
|
NM_004082.5(DCTN1):c.3610-5C>G
|
|
|
NM_004082.5(DCTN1):c.3610-5C>T
|
|
|
NM_004082.5(DCTN1):c.3615G>T (p.Glu1205Asp)
|
|
|
NM_004082.5(DCTN1):c.3629C>G (p.Thr1210Arg)
|
rs565866230
|
|
NM_004082.5(DCTN1):c.3638_3640del (p.Gln1213del)
|
rs1364182022
|
|
NM_004082.5(DCTN1):c.3643C>T (p.Pro1215Ser)
|
rs184147813
|
|
NM_004082.5(DCTN1):c.3645T>C (p.Pro1215=)
|
|
|
NM_004082.5(DCTN1):c.3650C>G (p.Ala1217Gly)
|
|
|
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala)
|
rs886070472
|
|
NM_004082.5(DCTN1):c.3659C>A (p.Pro1220His)
|
rs1276978486
|
|
NM_004082.5(DCTN1):c.3664G>A (p.Asp1222Asn)
|
|
|
NM_004082.5(DCTN1):c.3683C>T (p.Ser1228Leu)
|
|
|
NM_004082.5(DCTN1):c.3684A>G (p.Ser1228=)
|
|
|
NM_004082.5(DCTN1):c.3693C>T (p.Phe1231=)
|
rs1573138460
|
|
NM_004082.5(DCTN1):c.3694C>G (p.Leu1232Val)
|
|
|
NM_004082.5(DCTN1):c.3699+11G>A
|
|
|
NM_004082.5(DCTN1):c.3699+12_3699+23del
|
rs769645845
|
|
NM_004082.5(DCTN1):c.3699+18_3699+29del
|
rs780978911
|
|
NM_004082.5(DCTN1):c.3699+18del
|
|
|
NM_004082.5(DCTN1):c.3699+8_3699+9dup
|
|
|
NM_004082.5(DCTN1):c.3699+9dup
|
rs542984299
|
|
NM_004082.5(DCTN1):c.3700-18C>A
|
|
|
NM_004082.5(DCTN1):c.3700-18C>T
|
|
|
NM_004082.5(DCTN1):c.3700-20T>C
|
|
|
NM_004082.5(DCTN1):c.3700-3C>G
|
|
|
NM_004082.5(DCTN1):c.3700-3C>T
|
rs747435830
|
|
NM_004082.5(DCTN1):c.3700-4C>T
|
rs1182597936
|
|
NM_004082.5(DCTN1):c.3700-6C>A
|
|
|
NM_004082.5(DCTN1):c.3700-6C>T
|
rs371163273
|
|
NM_004082.5(DCTN1):c.3701C>T (p.Ala1234Val)
|
rs1200946425
|
|
NM_004082.5(DCTN1):c.3709G>A (p.Glu1237Lys)
|
|
|
NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)
|
|
|
NM_004082.5(DCTN1):c.371C>G (p.Thr124Arg)
|
rs769430160
|
|
NM_004082.5(DCTN1):c.3726A>T (p.Thr1242=)
|
|
|
NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys)
|
rs752422008
|
|
NM_004082.5(DCTN1):c.3741A>C (p.Lys1247Asn)
|
rs2104386809
|
|
NM_004082.5(DCTN1):c.3747C>G (p.Thr1249=)
|
rs759710617
|
|
NM_004082.5(DCTN1):c.3747C>T (p.Thr1249=)
|
rs759710617
|
|
NM_004082.5(DCTN1):c.374C>T (p.Thr125Ile)
|
rs1275593815
|
|
NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu)
|
rs1673994728
|
|
NM_004082.5(DCTN1):c.3751T>G (p.Ser1251Ala)
|
rs766778493
|
|
NM_004082.5(DCTN1):c.3752C>T (p.Ser1251Leu)
|
|
|
NM_004082.5(DCTN1):c.3754T>C (p.Cys1252Arg)
|
rs1238095268
|
|
NM_004082.5(DCTN1):c.376G>A (p.Ala126Thr)
|
rs1553466338
|
|
NM_004082.5(DCTN1):c.3778C>T (p.His1260Tyr)
|
rs1375787578
|
|
NM_004082.5(DCTN1):c.3780C>T (p.His1260=)
|
|
|
NM_004082.5(DCTN1):c.3783G>T (p.Arg1261=)
|
rs779676968
|
|
NM_004082.5(DCTN1):c.3787G>A (p.Val1263Met)
|
rs2104386411
|
|
NM_004082.5(DCTN1):c.378A>G (p.Ala126=)
|
|
|
NM_004082.5(DCTN1):c.3797A>G (p.Gln1266Arg)
|
|
|
NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys)
|
rs146083590
|
|
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)
|
rs146083590
|
|
NM_004082.5(DCTN1):c.3803A>G (p.Gln1268Arg)
|
rs751431467
|
|
NM_004082.5(DCTN1):c.3811C>G (p.Gln1271Glu)
|
rs1673987624
|
|
NM_004082.5(DCTN1):c.3820A>C (p.Ser1274Arg)
|
|
|
NM_004082.5(DCTN1):c.3828C>T (p.Leu1276=)
|
rs374006190
|
|
NM_004082.5(DCTN1):c.3830T>C (p.Ile1277Thr)
|
|
|
NM_004082.5(DCTN1):c.3834C>T (p.Ser1278=)
|
|
|
NM_004082.5(DCTN1):c.391C>G (p.Leu131Val)
|
|
|
NM_004082.5(DCTN1):c.393+15G>A
|
|
|
NM_004082.5(DCTN1):c.393+15G>T
|
rs535614130
|
|
NM_004082.5(DCTN1):c.393+16del
|
rs529200706
|
|
NM_004082.5(DCTN1):c.393G>A (p.Leu131=)
|
|
|
NM_004082.5(DCTN1):c.394-10C>T
|
rs541163314
|
|
NM_004082.5(DCTN1):c.394-17dup
|
rs771736182
|
|
NM_004082.5(DCTN1):c.394-20C>T
|
|
|
NM_004082.5(DCTN1):c.394-2dup
|
rs1403988786
|
|
NM_004082.5(DCTN1):c.394-3C>T
|
|
|
NM_004082.5(DCTN1):c.394-9_394-7del
|
rs932190621
|
|
NM_004082.5(DCTN1):c.394C>T (p.Arg132Trp)
|
|
|
NM_004082.5(DCTN1):c.403A>C (p.Lys135Gln)
|
rs1675250026
|
|
NM_004082.5(DCTN1):c.414+12A>C
|
|
|
NM_004082.5(DCTN1):c.414+1G>T
|
rs576198476
|
|
NM_004082.5(DCTN1):c.415-5G>A
|
rs2103694423
|
|
NM_004082.5(DCTN1):c.419C>A (p.Pro140Gln)
|
|
|
NM_004082.5(DCTN1):c.419C>T (p.Pro140Leu)
|
rs147939455
|
|
NM_004082.5(DCTN1):c.41G>T (p.Ser14Ile)
|
|
|
NM_004082.5(DCTN1):c.422C>G (p.Thr141Arg)
|
rs2103694207
|
|
NM_004082.5(DCTN1):c.425C>T (p.Ala142Val)
|
|
|
NM_004082.5(DCTN1):c.427C>G (p.Arg143Gly)
|
rs781290307
|
|
NM_004082.5(DCTN1):c.428G>A (p.Arg143Gln)
|
rs764615912
|
|
NM_004082.5(DCTN1):c.428G>C (p.Arg143Pro)
|
|
|
NM_004082.5(DCTN1):c.432+10C>T
|
rs758964727
|
|
NM_004082.5(DCTN1):c.432+14C>T
|
|
|
NM_004082.5(DCTN1):c.432+18C>A
|
rs201820150
|
|
NM_004082.5(DCTN1):c.432+18C>T
|
rs201820150
|
|
NM_004082.5(DCTN1):c.432+19G>A
|
rs375037820
|
|
NM_004082.5(DCTN1):c.432+19G>C
|
|
|
NM_004082.5(DCTN1):c.432+19G>T
|
|
|
NM_004082.5(DCTN1):c.432+1G>T
|
rs1235693710
|
|
NM_004082.5(DCTN1):c.433-17T>A
|
|
|
NM_004082.5(DCTN1):c.433-3C>T
|
rs375832615
|
|
NM_004082.5(DCTN1):c.433-9C>T
|
|
|
NM_004082.5(DCTN1):c.434C>G (p.Thr145Ser)
|
|
|
NM_004082.5(DCTN1):c.442C>G (p.Arg148Gly)
|
rs148810193
|
|
NM_004082.5(DCTN1):c.453+14C>A
|
|
|
NM_004082.5(DCTN1):c.453+15C>T
|
|
|
NM_004082.5(DCTN1):c.453+6A>G
|
|
|
NM_004082.5(DCTN1):c.454-12C>T
|
|
|
NM_004082.5(DCTN1):c.454-17C>T
|
|
|
NM_004082.5(DCTN1):c.454-7T>C
|
rs1275843862
|
|
NM_004082.5(DCTN1):c.475G>T (p.Gly159Trp)
|
|
|
NM_004082.5(DCTN1):c.487G>T (p.Ala163Ser)
|
rs746429168
|
|
NM_004082.5(DCTN1):c.495C>T (p.Ser165=)
|
|
|
NM_004082.5(DCTN1):c.518C>G (p.Ala173Gly)
|
rs1445980252
|
|
NM_004082.5(DCTN1):c.518C>T (p.Ala173Val)
|
rs1445980252
|
|
NM_004082.5(DCTN1):c.519G>A (p.Ala173=)
|
rs376565787
|
|
NM_004082.5(DCTN1):c.51G>T (p.Arg17Ser)
|
|
|
NM_004082.5(DCTN1):c.524C>T (p.Ala175Val)
|
|
|
NM_004082.5(DCTN1):c.528T>G (p.Gly176=)
|
|
|
NM_004082.5(DCTN1):c.537C>T (p.Ser179=)
|
|
|
NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn)
|
rs1365948671
|
|
NM_004082.5(DCTN1):c.540C>T (p.Ser180=)
|
|
|
NM_004082.5(DCTN1):c.546G>A (p.Glu182=)
|
|
|
NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser)
|
rs1674861180
|
|
NM_004082.5(DCTN1):c.549C>T (p.Pro183=)
|
|
|
NM_004082.5(DCTN1):c.557C>G (p.Pro186Arg)
|
|
|
NM_004082.5(DCTN1):c.562C>G (p.Gln188Glu)
|
|
|
NM_004082.5(DCTN1):c.570G>T (p.Pro190=)
|
rs528908728
|
|
NM_004082.5(DCTN1):c.577G>A (p.Ala193Thr)
|
|
|
NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu)
|
rs1057518814
|
|
NM_004082.5(DCTN1):c.588C>T (p.Ile196=)
|
rs761974691
|
|
NM_004082.5(DCTN1):c.589C>T (p.Pro197Ser)
|
|
|
NM_004082.5(DCTN1):c.593C>T (p.Thr198Met)
|
|
|
NM_004082.5(DCTN1):c.5C>T (p.Ala2Val)
|
rs1675439973
|
|
NM_004082.5(DCTN1):c.605C>T (p.Thr202Ile)
|
|
|
NM_004082.5(DCTN1):c.606C>G (p.Thr202=)
|
|
|
NM_004082.5(DCTN1):c.611C>T (p.Pro204Leu)
|
|
|
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser)
|
rs770302677
|
|
NM_004082.5(DCTN1):c.626C>A (p.Pro209Gln)
|
rs112725508
|
|
NM_004082.5(DCTN1):c.626C>G (p.Pro209Arg)
|
rs112725508
|
|
NM_004082.5(DCTN1):c.626C>T (p.Pro209Leu)
|
rs112725508
|
|
NM_004082.5(DCTN1):c.626dup (p.Leu210fs)
|
|
|
NM_004082.5(DCTN1):c.627G>A (p.Pro209=)
|
rs147673066
|
|
NM_004082.5(DCTN1):c.627G>C (p.Pro209=)
|
|
|
NM_004082.5(DCTN1):c.627G>T (p.Pro209=)
|
rs147673066
|
|
NM_004082.5(DCTN1):c.629T>G (p.Leu210Arg)
|
rs1558943273
|
|
NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu)
|
rs754827026
|
|
NM_004082.5(DCTN1):c.645+11G>T
|
|
|
NM_004082.5(DCTN1):c.645+19G>A
|
|
|
NM_004082.5(DCTN1):c.645+8C>T
|
rs1170361781
|
|
NM_004082.5(DCTN1):c.646-20G>A
|
|
|
NM_004082.5(DCTN1):c.646-9C>T
|
rs771722291
|
|
NM_004082.5(DCTN1):c.660A>G (p.Leu220=)
|
|
|
NM_004082.5(DCTN1):c.663G>A (p.Arg221=)
|
rs1573164850
|
|
NM_004082.5(DCTN1):c.694G>C (p.Glu232Gln)
|
rs1573164746
|
|
NM_004082.5(DCTN1):c.69C>T (p.Ser23=)
|
|
|
NM_004082.5(DCTN1):c.70G>A (p.Ala24Thr)
|
rs372733713
|
|
NM_004082.5(DCTN1):c.70G>T (p.Ala24Ser)
|
|
|
NM_004082.5(DCTN1):c.713G>A (p.Arg238Gln)
|
|
|
NM_004082.5(DCTN1):c.714G>T (p.Arg238=)
|
|
|
NM_004082.5(DCTN1):c.727G>T (p.Ala243Ser)
|
rs1674806644
|
|
NM_004082.5(DCTN1):c.742C>G (p.Leu248Val)
|
rs112475795
|
|
NM_004082.5(DCTN1):c.74G>A (p.Arg25Gln)
|
|
|
NM_004082.5(DCTN1):c.786G>A (p.Lys262=)
|
rs1573164518
|
|
NM_004082.5(DCTN1):c.793A>C (p.Met265Leu)
|
|
|
NM_004082.5(DCTN1):c.793A>T (p.Met265Leu)
|
rs2103663572
|
|
NM_004082.5(DCTN1):c.809C>T (p.Ala270Val)
|
|
|
NM_004082.5(DCTN1):c.810C>G (p.Ala270=)
|
rs569011011
|
|
NM_004082.5(DCTN1):c.820C>T (p.Arg274Trp)
|
|
|
NM_004082.5(DCTN1):c.82C>T (p.Arg28Trp)
|
|
|
NM_004082.5(DCTN1):c.833A>T (p.Glu278Val)
|
rs1553465344
|
|
NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr)
|
rs1674798940
|
|
NM_004082.5(DCTN1):c.840A>G (p.Arg280=)
|
|
|
NM_004082.5(DCTN1):c.843+13A>G
|
|
|
NM_004082.5(DCTN1):c.843+14T>G
|
|
|
NM_004082.5(DCTN1):c.843+18G>A
|
|
|
NM_004082.5(DCTN1):c.843+19G>A
|
rs556822905
|
|
NM_004082.5(DCTN1):c.843+19G>C
|
|
|
NM_004082.5(DCTN1):c.843+19G>T
|
rs556822905
|
|
NM_004082.5(DCTN1):c.843+7C>T
|
|
|
NM_004082.5(DCTN1):c.844-17C>T
|
|
|
NM_004082.5(DCTN1):c.844-2A>G
|
rs2103661242
|
|
NM_004082.5(DCTN1):c.851A>G (p.Lys284Arg)
|
rs755017882
|
|
NM_004082.5(DCTN1):c.852G>A (p.Lys284=)
|
|
|
NM_004082.5(DCTN1):c.857C>T (p.Ala286Val)
|
rs896989123
|
|
NM_004082.5(DCTN1):c.858G>A (p.Ala286=)
|
rs151107870
|
|
NM_004082.5(DCTN1):c.858G>T (p.Ala286=)
|
rs151107870
|
|
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys)
|
rs1200414397
|
|
NM_004082.5(DCTN1):c.879T>C (p.Tyr293=)
|
|
|
NM_004082.5(DCTN1):c.885G>A (p.Glu295=)
|
rs1219824885
|
|
NM_004082.5(DCTN1):c.900T>A (p.Thr300=)
|
|
|
NM_004082.5(DCTN1):c.903T>C (p.Ala301=)
|
rs2103660730
|
|
NM_004082.5(DCTN1):c.909C>T (p.Ala303=)
|
rs1206939326
|
|
NM_004082.5(DCTN1):c.920C>G (p.Ala307Gly)
|
rs759253635
|
|
NM_004082.5(DCTN1):c.921C>T (p.Ala307=)
|
|
|
NM_004082.5(DCTN1):c.949C>T (p.Arg317Trp)
|
|
|
NM_004082.5(DCTN1):c.954T>C (p.Ala318=)
|
|
|
NM_004082.5(DCTN1):c.95G>A (p.Arg32His)
|
|
|
NM_004082.5(DCTN1):c.969G>A (p.Gln323=)
|
|
|
NM_004082.5(DCTN1):c.986A>G (p.Lys329Arg)
|
rs760539371
|
|
NM_004082.5(DCTN1):c.990G>A (p.Glu330=)
|
rs2103660210
|
|
NM_004082.5(DCTN1):c.991C>T (p.Arg331Trp)
|
rs1064797256
|
|
NM_004082.5(DCTN1):c.992G>A (p.Arg331Gln)
|
|
|
NM_004082.5(DCTN1):c.999C>A (p.Asp333Glu)
|
|
|
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu)
|
rs200952455
|
|
NM_004082.5(DCTN1):c.999C>T (p.Asp333=)
|
rs200952455
|
|
NM_004184.4(WARS1):c.413T>A (p.Phe138Tyr)
|
rs1895599490
|
|
NM_004184.4(WARS1):c.770A>G (p.His257Arg)
|
rs770003315
|
|
NM_004184.4(WARS1):c.841C>T (p.Pro281Ser)
|
|
|
NM_004184.4(WARS1):c.941A>G (p.Asp314Gly)
|
rs1894240526
|
|
NM_004184.4(WARS1):c.964G>A (p.Asp322Asn)
|
rs2139921550
|
|
NM_004738.5(VAPB):c.*1431G>T
|
rs886056813
|
|
NM_004738.5(VAPB):c.*1905C>T
|
rs1989287889
|
|
NM_004738.5(VAPB):c.*1919A>G
|
rs886056816
|
|
NM_004738.5(VAPB):c.*2350A>G
|
rs1989298509
|
|
NM_004738.5(VAPB):c.*2571G>A
|
rs1989303521
|
|
NM_004738.5(VAPB):c.*2676A>G
|
rs886056817
|
|
NM_004738.5(VAPB):c.*2876A>G
|
rs1989311671
|
|
NM_004738.5(VAPB):c.*3014C>T
|
rs1269284815
|
|
NM_004738.5(VAPB):c.*3118C>A
|
rs56310716
|
|
NM_004738.5(VAPB):c.*3260C>T
|
rs886056819
|
|
NM_004738.5(VAPB):c.*3516C>G
|
rs886056820
|
|
NM_004738.5(VAPB):c.*3870G>C
|
rs886056822
|
|
NM_004738.5(VAPB):c.*4206G>A
|
rs886056824
|
|
NM_004738.5(VAPB):c.*4374A>C
|
rs1989355496
|
|
NM_004738.5(VAPB):c.*4418C>T
|
rs774417253
|
|
NM_004738.5(VAPB):c.*4637G>T
|
rs1313089832
|
|
NM_004738.5(VAPB):c.*5114G>A
|
rs886056826
|
|
NM_004738.5(VAPB):c.*5479C>T
|
rs554455751
|
|
NM_004738.5(VAPB):c.*5500A>G
|
rs1989390124
|
|
NM_004738.5(VAPB):c.*5612C>G
|
rs140602757
|
|
NM_004738.5(VAPB):c.*5616T>C
|
rs1989394911
|
|
NM_004738.5(VAPB):c.*5789C>T
|
rs867023811
|
|
NM_004738.5(VAPB):c.*5795T>G
|
rs886056831
|
|
NM_004738.5(VAPB):c.*5815G>A
|
rs886056832
|
|
NM_004738.5(VAPB):c.*6068T>C
|
rs897600456
|
|
NM_004738.5(VAPB):c.*6631G>T
|
rs1442004772
|
|
NM_004738.5(VAPB):c.-150C>G
|
rs572151788
|
|
NM_004738.5(VAPB):c.-152C>A
|
rs753958893
|
|
NM_004738.5(VAPB):c.-33C>G
|
rs201547974
|
|
NM_004738.5(VAPB):c.109G>C (p.Asp37His)
|
|
|
NM_004738.5(VAPB):c.110A>C (p.Asp37Ala)
|
rs755474083
|
|
NM_004738.5(VAPB):c.111C>A (p.Asp37Glu)
|
rs781691837
|
|
NM_004738.5(VAPB):c.111C>T (p.Asp37=)
|
rs781691837
|
|
NM_004738.5(VAPB):c.114_118del (p.Asn39fs)
|
|
|
NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)
|
|
|
NM_004738.5(VAPB):c.117T>C (p.Asn39=)
|
rs748583918
|
|
NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)
|
|
|
NM_004738.5(VAPB):c.122_123del (p.Cys41fs)
|
|
|
NM_004738.5(VAPB):c.137C>T (p.Thr46Ile)
|
rs281875284
|
|
NM_004738.5(VAPB):c.13G>A (p.Glu5Lys)
|
rs777026649
|
|
NM_004738.5(VAPB):c.149G>T (p.Arg50Leu)
|
|
|
NM_004738.5(VAPB):c.151A>G (p.Arg51Gly)
|
|
|
NM_004738.5(VAPB):c.156C>T (p.Tyr52=)
|
rs749580878
|
|
NM_004738.5(VAPB):c.159del (p.Cys53fs)
|
|
|
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)
|
rs74315431
|
|
NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp)
|
|
|
NM_004738.5(VAPB):c.167C>G (p.Pro56Arg)
|
|
|
NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)
|
|
|
NM_004738.5(VAPB):c.178A>G (p.Ile60Val)
|
|
|
NM_004738.5(VAPB):c.188C>T (p.Ala63Val)
|
|
|
NM_004738.5(VAPB):c.189A>C (p.Ala63=)
|
rs2123058915
|
|
NM_004738.5(VAPB):c.193G>A (p.Ala65Thr)
|
|
|
NM_004738.5(VAPB):c.194C>T (p.Ala65Val)
|
rs1555813002
|
|
NM_004738.5(VAPB):c.195C>A (p.Ala65=)
|
rs1555813003
|
|
NM_004738.5(VAPB):c.207A>G (p.Val69=)
|
|
|
NM_004738.5(VAPB):c.209C>T (p.Ser70Phe)
|
rs762603323
|
|
NM_004738.5(VAPB):c.211+11A>T
|
|
|
NM_004738.5(VAPB):c.212-12T>C
|
rs1988997194
|
|
NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT
|
|
|
NM_004738.5(VAPB):c.21C>G (p.Val7=)
|
rs763066492
|
|
NM_004738.5(VAPB):c.224C>G (p.Pro75Arg)
|
rs2123088879
|
|
NM_004738.5(VAPB):c.229G>A (p.Asp77Asn)
|
|
|
NM_004738.5(VAPB):c.242A>G (p.Asn81Ser)
|
|
|
NM_004738.5(VAPB):c.246G>A (p.Glu82=)
|
|
|
NM_004738.5(VAPB):c.246G>C (p.Glu82Asp)
|
rs2123088925
|
|
NM_004738.5(VAPB):c.24G>A (p.Leu8=)
|
|
|
NM_004738.5(VAPB):c.252T>C (p.Ser84=)
|
rs2123088934
|
|
NM_004738.5(VAPB):c.256C>G (p.His86Asp)
|
|
|
NM_004738.5(VAPB):c.258C>A (p.His86Gln)
|
|
|
NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)
|
|
|
NM_004738.5(VAPB):c.283G>T (p.Ala95Ser)
|
|
|
NM_004738.5(VAPB):c.301G>C (p.Asp101His)
|
|
|
NM_004738.5(VAPB):c.305T>C (p.Met102Thr)
|
|
|
NM_004738.5(VAPB):c.309A>G (p.Glu103=)
|
|
|
NM_004738.5(VAPB):c.30C>T (p.Leu10=)
|
rs886056811
|
|
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr)
|
rs1295445556
|
|
NM_004738.5(VAPB):c.315+14G>A
|
|
|
NM_004738.5(VAPB):c.315+14G>T
|
|
|
NM_004738.5(VAPB):c.315+15C>A
|
rs2123089093
|
|
NM_004738.5(VAPB):c.316-17A>T
|
rs201335617
|
|
NM_004738.5(VAPB):c.316-3del
|
|
|
NM_004738.5(VAPB):c.31G>C (p.Glu11Gln)
|
|
|
NM_004738.5(VAPB):c.340C>G (p.Leu114Val)
|
|
|
NM_004738.5(VAPB):c.344T>C (p.Met115Thr)
|
|
|
NM_004738.5(VAPB):c.34C>T (p.Pro12Ser)
|
rs1431840351
|
|
NM_004738.5(VAPB):c.354A>C (p.Lys118Asn)
|
|
|
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu)
|
rs1987730075
|
|
NM_004738.5(VAPB):c.373T>A (p.Leu125Met)
|
|
|
NM_004738.5(VAPB):c.375G>A (p.Leu125=)
|
rs2123096724
|
|
NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)
|
|
|
NM_004738.5(VAPB):c.378A>G (p.Pro126=)
|
rs981564507
|
|
NM_004738.5(VAPB):c.384G>A (p.Glu128=)
|
|
|
NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr)
|
|
|
NM_004738.5(VAPB):c.38A>C (p.Gln13Pro)
|
rs760656837
|
|
NM_004738.5(VAPB):c.396+16G>A
|
|
|
NM_004738.5(VAPB):c.396+21_396+23del
|
|
|
NM_004738.5(VAPB):c.396+6T>C
|
|
|
NM_004738.5(VAPB):c.396+9A>G
|
|
|
NM_004738.5(VAPB):c.397-12G>T
|
|
|
NM_004738.5(VAPB):c.397-17C>T
|
|
|
NM_004738.5(VAPB):c.402T>C (p.Asp134=)
|
|
|
NM_004738.5(VAPB):c.421A>G (p.Ile141Val)
|
rs1392475929
|
|
NM_004738.5(VAPB):c.434C>T (p.Ala145Val)
|
|
|
NM_004738.5(VAPB):c.438A>G (p.Ser146=)
|
|
|
NM_004738.5(VAPB):c.451C>T (p.Pro151Ser)
|
rs1989146263
|
|
NM_004738.5(VAPB):c.454A>G (p.Ile152Val)
|
|
|
NM_004738.5(VAPB):c.455T>C (p.Ile152Thr)
|
|
|
NM_004738.5(VAPB):c.457G>A (p.Val153Met)
|
rs1362788253
|
|
NM_004738.5(VAPB):c.460T>A (p.Ser154Thr)
|
|
|
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del)
|
rs566283411
|
|
NM_004738.5(VAPB):c.482T>C (p.Leu161Ser)
|
rs1555815825
|
|
NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val)
|
rs2123099930
|
|
NM_004738.5(VAPB):c.512A>T (p.Glu171Val)
|
|
|
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr)
|
rs1989148708
|
|
NM_004738.5(VAPB):c.532G>A (p.Gly178Ser)
|
rs1039112226
|
|
NM_004738.5(VAPB):c.542A>G (p.Gln181Arg)
|
|
|
NM_004738.5(VAPB):c.545G>A (p.Arg182Lys)
|
rs1568720020
|
|
NM_004738.5(VAPB):c.547C>T (p.Leu183=)
|
|
|
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln)
|
rs145483046
|
|
NM_004738.5(VAPB):c.563A>G (p.Lys188Arg)
|
|
|
NM_004738.5(VAPB):c.563dup (p.Gln189fs)
|
|
|
NM_004738.5(VAPB):c.564G>A (p.Lys188=)
|
rs1252962552
|
|
NM_004738.5(VAPB):c.573+16C>A
|
|
|
NM_004738.5(VAPB):c.574-15C>T
|
|
|
NM_004738.5(VAPB):c.574-7C>T
|
|
|
NM_004738.5(VAPB):c.58+10A>G
|
|
|
NM_004738.5(VAPB):c.58+18C>T
|
|
|
NM_004738.5(VAPB):c.58+8C>G
|
|
|
NM_004738.5(VAPB):c.587T>C (p.Leu196Pro)
|
rs1252954619
|
|
NM_004738.5(VAPB):c.589C>T (p.Arg197Trp)
|
rs371134278
|
|
NM_004738.5(VAPB):c.59-11T>C
|
|
|
NM_004738.5(VAPB):c.59-11_59-10del
|
|
|
NM_004738.5(VAPB):c.59-16_59-15del
|
|
|
NM_004738.5(VAPB):c.59-20G>A
|
|
|
NM_004738.5(VAPB):c.59-3C>T
|
|
|
NM_004738.5(VAPB):c.592A>T (p.Met198Leu)
|
|
|
NM_004738.5(VAPB):c.601A>T (p.Thr201Ser)
|
rs757786343
|
|
NM_004738.5(VAPB):c.602C>T (p.Thr201Ile)
|
|
|
NM_004738.5(VAPB):c.610A>G (p.Ser204Gly)
|
|
|
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp)
|
rs1989221617
|
|
NM_004738.5(VAPB):c.63C>G (p.Pro21=)
|
|
|
NM_004738.5(VAPB):c.640A>G (p.Thr214Ala)
|
|
|
NM_004738.5(VAPB):c.656G>T (p.Gly219Val)
|
rs786205553
|
|
NM_004738.5(VAPB):c.659T>G (p.Leu220Arg)
|
rs1989222839
|
|
NM_004738.5(VAPB):c.668G>C (p.Arg223Pro)
|
rs763755820
|
|
NM_004738.5(VAPB):c.674T>C (p.Leu225Ser)
|
rs1439925669
|
|
NM_004738.5(VAPB):c.677C>A (p.Ala226Asp)
|
rs2123105103
|
|
NM_004738.5(VAPB):c.677C>T (p.Ala226Val)
|
rs2123105103
|
|
NM_004738.5(VAPB):c.680T>C (p.Leu227Pro)
|
|
|
NM_004738.5(VAPB):c.688T>G (p.Leu230Val)
|
rs1600821730
|
|
NM_004738.5(VAPB):c.691T>C (p.Phe231Leu)
|
|
|
NM_004738.5(VAPB):c.69C>T (p.Thr23=)
|
|
|
NM_004738.5(VAPB):c.700G>A (p.Val234Ile)
|
|
|
NM_004738.5(VAPB):c.704G>T (p.Gly235Val)
|
|
|
NM_004738.5(VAPB):c.709A>G (p.Ile237Val)
|
rs1555816248
|
|
NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)
|
|
|
NM_004738.5(VAPB):c.719A>G (p.Lys240Arg)
|
|
|
NM_004738.5(VAPB):c.78C>T (p.Val26=)
|
rs2123058654
|
|
NM_004738.5(VAPB):c.82A>G (p.Thr28Ala)
|
rs2123058661
|
|
NM_004738.5(VAPB):c.85A>G (p.Asn29Asp)
|
rs2123058664
|
|
NM_004738.5(VAPB):c.86A>G (p.Asn29Ser)
|
rs1293144080
|
|
NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)
|
|
|
NM_004738.5(VAPB):c.99C>T (p.Gly33=)
|
|
|
NM_004960.3(FUS):c.*1230C>G
|
rs886051945
|
|
NM_004960.3(FUS):c.*1302T>G
|
rs1323278196
|
|
NM_004960.3(FUS):c.*1734C>T
|
rs886051949
|
|
NM_004960.3(FUS):c.*175C>T
|
rs375615976
|
|
NM_004960.3(FUS):c.*2063C>G
|
rs954792797
|
|
NM_004960.3(FUS):c.*2329G>C
|
rs2079389885
|
|
NM_004960.3(FUS):c.*272T>C
|
rs1175838580
|
|
NM_004960.3(FUS):c.*2815T>C
|
rs2079395649
|
|
NM_004960.3(FUS):c.*2955A>G
|
rs149361851
|
|
NM_004960.3(FUS):c.*3092C>T
|
rs886051958
|
|
NM_004960.3(FUS):c.*3230A>G
|
rs550798081
|
|
NM_004960.3(FUS):c.*3263T>G
|
rs886051959
|
|
NM_004960.3(FUS):c.*408A>C
|
rs553760130
|
|
NM_004960.3(FUS):c.*415A>T
|
rs771689682
|
|
NM_004960.3(FUS):c.*805C>G
|
rs886051942
|
|
NM_004960.3(FUS):c.*814T>C
|
rs772679520
|
|
NM_004960.3(FUS):c.*953G>T
|
rs2079374011
|
|
NM_004960.3(FUS):c.515_523+3del
|
|
|
NM_004960.3(FUS):c.521_523+3dup6
|
|
|
NM_004960.4(FUS):c.*132C>A
|
rs565540429
|
|
NM_004960.4(FUS):c.-15C>G
|
rs768477428
|
|
NM_004960.4(FUS):c.-48C>G
|
rs199671743
|
|
NM_004960.4(FUS):c.-49G>A
|
rs200997075
|
|
NM_004960.4(FUS):c.-49G>T
|
rs200997075
|
|
NM_004960.4(FUS):c.-53C>T
|
rs759668256
|
|
NM_004960.4(FUS):c.1014G>A (p.Thr338=)
|
|
|
NM_004960.4(FUS):c.1014G>T (p.Thr338=)
|
rs374933969
|
|
NM_004960.4(FUS):c.1055A>T (p.Asp352Val)
|
|
|
NM_004960.4(FUS):c.1066+14G>A
|
|
|
NM_004960.4(FUS):c.1067-15T>A
|
|
|
NM_004960.4(FUS):c.1067-16T>C
|
|
|
NM_004960.4(FUS):c.1067-17del
|
|
|
NM_004960.4(FUS):c.1086T>C (p.Asn362=)
|
|
|
NM_004960.4(FUS):c.1087C>G (p.Pro363Ala)
|
|
|
NM_004960.4(FUS):c.1111C>T (p.Arg371Cys)
|
rs773141319
|
|
NM_004960.4(FUS):c.1125T>C (p.Phe375=)
|
|
|
NM_004960.4(FUS):c.1148G>A (p.Arg383His)
|
|
|
NM_004960.4(FUS):c.1157G>C (p.Arg386Pro)
|
|
|
NM_004960.4(FUS):c.1168+16C>T
|
|
|
NM_004960.4(FUS):c.1169-7G>A
|
rs763718245
|
|
NM_004960.4(FUS):c.1171C>G (p.Pro391Ala)
|
rs560450437
|
|
NM_004960.4(FUS):c.1181G>T (p.Arg394Leu)
|
rs886051936
|
|
NM_004960.4(FUS):c.1190A>G (p.Tyr397Cys)
|
|
|
NM_004960.4(FUS):c.119G>C (p.Gly40Ala)
|
|
|
NM_004960.4(FUS):c.1234A>G (p.Ser412Gly)
|
|
|
NM_004960.4(FUS):c.1285C>T (p.Pro429Ser)
|
|
|
NM_004960.4(FUS):c.1292+20T>A
|
|
|
NM_004960.4(FUS):c.1292+22dup
|
rs572228309
|
|
NM_004960.4(FUS):c.1293-13C>T
|
|
|
NM_004960.4(FUS):c.13+11_13+13del
|
rs1057518893
|
|
NM_004960.4(FUS):c.1317T>C (p.Ser439=)
|
rs377010944
|
|
NM_004960.4(FUS):c.135G>T (p.Thr45=)
|
|
|
NM_004960.4(FUS):c.1369G>A (p.Gly457Arg)
|
|
|
NM_004960.4(FUS):c.1371_1373dup (p.Gly458_Pro459insGly)
|
|
|
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu)
|
rs1131691846
|
|
NM_004960.4(FUS):c.1377A>C (p.Pro459=)
|
|
|
NM_004960.4(FUS):c.1391_1392dup (p.Gly465fs)
|
rs2144138894
|
|
NM_004960.4(FUS):c.1393+17T>C
|
|
|
NM_004960.4(FUS):c.1393+20T>G
|
|
|
NM_004960.4(FUS):c.1394-12C>T
|
|
|
NM_004960.4(FUS):c.1394-13del
|
|
|
NM_004960.4(FUS):c.1394-19C>A
|
|
|
NM_004960.4(FUS):c.1394-1G>T
|
rs2079347087
|
|
NM_004960.4(FUS):c.1394-2del
|
rs1555509569
|
|
NM_004960.4(FUS):c.1395G>T (p.Gly465=)
|
|
|
NM_004960.4(FUS):c.14-9C>G
|
|
|
NM_004960.4(FUS):c.1404C>T (p.Tyr468=)
|
rs562029185
|
|
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys)
|
rs914056789
|
|
NM_004960.4(FUS):c.1436A>G (p.Tyr479Cys)
|
|
|
NM_004960.4(FUS):c.1446C>T (p.Gly482=)
|
rs112061837
|
|
NM_004960.4(FUS):c.1449_1488del (p.Tyr484fs)
|
|
|
NM_004960.4(FUS):c.144A>G (p.Ser48=)
|
|
|
NM_004960.4(FUS):c.1451A>G (p.Tyr484Cys)
|
|
|
NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)
|
|
|
NM_004960.4(FUS):c.1468dup (p.Asp490fs)
|
|
|
NM_004960.4(FUS):c.1471C>A (p.Arg491Ser)
|
rs753458243
|
|
NM_004960.4(FUS):c.1500dup (p.Gly501fs)
|
rs2144140268
|
|
NM_004960.4(FUS):c.1506C>T (p.Asp502=)
|
|
|
NM_004960.4(FUS):c.1509_1510del (p.Gly504fs)
|
rs1596912983
|
|
NM_004960.4(FUS):c.1509_1510dup (p.Gly504fs)
|
rs1596912983
|
|
NM_004960.4(FUS):c.1509dup (p.Gly504fs)
|
rs2079350332
|
|
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp)
|
rs267606831
|
|
NM_004960.4(FUS):c.1528A>G (p.Lys510Glu)
|
|
|
NM_004960.4(FUS):c.1531dup (p.Met511fs)
|
|
|
NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)
|
|
|
NM_004960.4(FUS):c.1540A>T (p.Arg514Trp)
|
rs1555509609
|
|
NM_004960.4(FUS):c.1541+12A>C
|
|
|
NM_004960.4(FUS):c.1541+1G>A
|
rs2079351113
|
|
NM_004960.4(FUS):c.1541+9_1541+10del
|
rs761850706
|
|
NM_004960.4(FUS):c.1542-1G>C
|
rs1596914113
|
|
NM_004960.4(FUS):c.1542-1G>T
|
rs1596914113
|
|
NM_004960.4(FUS):c.1543G>A (p.Gly515Ser)
|
|
|
NM_004960.4(FUS):c.1545_1547dup (p.Gly515_Glu516insAsp)
|
rs2079357583
|
|
NM_004960.4(FUS):c.1549C>A (p.His517Asn)
|
|
|
NM_004960.4(FUS):c.1550A>G (p.His517Arg)
|
rs1085308015
|
|
NM_004960.4(FUS):c.1552A>G (p.Arg518Gly)
|
rs1409962577
|
|
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys)
|
rs121909669
|
|
NM_004960.4(FUS):c.1554_1557del (p.Gln519fs)
|
rs2144142389
|
|
NM_004960.4(FUS):c.1555C>G (p.Gln519Glu)
|
rs1567479067
|
|
NM_004960.4(FUS):c.1555C>T (p.Gln519Ter)
|
rs1567479067
|
|
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly)
|
rs121909668
|
|
NM_004960.4(FUS):c.1562G>A (p.Arg521His)
|
rs121909671
|
|
NM_004960.4(FUS):c.1562G>T (p.Arg521Leu)
|
rs121909671
|
|
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly)
|
rs1555509693
|
|
NM_004960.4(FUS):c.1566G>C (p.Arg522Ser)
|
|
|
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp)
|
rs267606833
|
|
NM_004960.4(FUS):c.1571G>T (p.Arg524Met)
|
rs544088874
|
|
NM_004960.4(FUS):c.1573C>A (p.Pro525Thr)
|
|
|
NM_004960.4(FUS):c.1573C>G (p.Pro525Ala)
|
rs1555509699
|
|
NM_004960.4(FUS):c.1573C>T (p.Pro525Ser)
|
|
|
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)
|
rs886041390
|
|
NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys)
|
rs1228194239
|
|
NM_004960.4(FUS):c.167CTT[1] (p.Ser57del)
|
rs777545405
|
|
NM_004960.4(FUS):c.190+16C>T
|
|
|
NM_004960.4(FUS):c.191-8C>T
|
|
|
NM_004960.4(FUS):c.211A>G (p.Thr71Ala)
|
|
|
NM_004960.4(FUS):c.215C>T (p.Pro72Leu)
|
rs2144107259
|
|
NM_004960.4(FUS):c.231G>A (p.Ser77=)
|
rs746093073
|
|
NM_004960.4(FUS):c.234T>C (p.Thr78=)
|
|
|
NM_004960.4(FUS):c.253C>T (p.Gln85Ter)
|
|
|
NM_004960.4(FUS):c.267G>A (p.Ser89=)
|
|
|
NM_004960.4(FUS):c.285C>G (p.Ser95=)
|
|
|
NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr)
|
rs2079220021
|
|
NM_004960.4(FUS):c.335+6G>C
|
|
|
NM_004960.4(FUS):c.335+8G>C
|
|
|
NM_004960.4(FUS):c.336-19T>G
|
|
|
NM_004960.4(FUS):c.336-19_336-16del
|
rs755482297
|
|
NM_004960.4(FUS):c.336-20T>G
|
|
|
NM_004960.4(FUS):c.336-4C>G
|
|
|
NM_004960.4(FUS):c.340G>A (p.Gly114Ser)
|
|
|
NM_004960.4(FUS):c.38+19C>T
|
|
|
NM_004960.4(FUS):c.39-11C>G
|
rs1449243081
|
|
NM_004960.4(FUS):c.39-18G>A
|
|
|
NM_004960.4(FUS):c.392G>A (p.Ser131Asn)
|
|
|
NM_004960.4(FUS):c.40T>A (p.Tyr14Asn)
|
rs2079194587
|
|
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1])
|
rs747579808
|
|
NM_004960.4(FUS):c.414A>G (p.Gly138=)
|
|
|
NM_004960.4(FUS):c.432A>T (p.Gly144=)
|
|
|
NM_004960.4(FUS):c.453C>T (p.Pro151=)
|
|
|
NM_004960.4(FUS):c.474G>C (p.Gln158His)
|
|
|
NM_004960.4(FUS):c.493A>G (p.Ser165Gly)
|
rs1325339011
|
|
NM_004960.4(FUS):c.493_495del (p.Ser165del)
|
rs2079227565
|
|
NM_004960.4(FUS):c.511G>T (p.Gly171Cys)
|
|
|
NM_004960.4(FUS):c.518_523del
|
|
|
NM_004960.4(FUS):c.523+21_523+24del
|
|
|
NM_004960.4(FUS):c.524-13del
|
|
|
NM_004960.4(FUS):c.524-13dup
|
rs755045476
|
|
NM_004960.4(FUS):c.524-7C>T
|
rs747200795
|
|
NM_004960.4(FUS):c.52C>A (p.Pro18Thr)
|
rs144888138
|
|
NM_004960.4(FUS):c.52C>T (p.Pro18Ser)
|
rs144888138
|
|
NM_004960.4(FUS):c.537A>C (p.Gln179His)
|
|
|
NM_004960.4(FUS):c.550A>G (p.Met184Val)
|
|
|
NM_004960.4(FUS):c.559G>A (p.Gly187Ser)
|
|
|
NM_004960.4(FUS):c.566G>A (p.Gly189Asp)
|
|
|
NM_004960.4(FUS):c.571G>A (p.Gly191Ser)
|
rs148758737
|
|
NM_004960.4(FUS):c.576C>T (p.Gly192=)
|
|
|
NM_004960.4(FUS):c.579T>G (p.Gly193=)
|
|
|
NM_004960.4(FUS):c.587A>G (p.Asn196Ser)
|
|
|
NM_004960.4(FUS):c.623A>G (p.Tyr208Cys)
|
|
|
NM_004960.4(FUS):c.636C>A (p.Asp212Glu)
|
|
|
NM_004960.4(FUS):c.646_669del (p.Arg216_Gly223del)
|
|
|
NM_004960.4(FUS):c.647G>A (p.Arg216His)
|
|
|
NM_004960.4(FUS):c.649G>C (p.Gly217Arg)
|
rs565915110
|
|
NM_004960.4(FUS):c.652_678del (p.Arg218_Gly226del)
|
rs756437417
|
|
NM_004960.4(FUS):c.654_662dup (p.Gly220_Ser221insArgGlyGly)
|
|
|
NM_004960.4(FUS):c.669CGG[10] (p.Gly228_Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[2] (p.Gly228_Gly231del)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[4] (p.Gly230_Gly231del)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[5] (p.Gly231del)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[8] (p.Gly230_Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.672C>T (p.Gly224=)
|
|
|
NM_004960.4(FUS):c.678C>T (p.Gly226=)
|
|
|
NM_004960.4(FUS):c.681C>T (p.Gly227=)
|
|
|
NM_004960.4(FUS):c.681_689del (p.Gly229_Gly231del)
|
rs767564995
|
|
NM_004960.4(FUS):c.684_692del (p.Gly229_Gly231del)
|
rs778398729
|
|
NM_004960.4(FUS):c.685GGT[2] (p.Gly231del)
|
|
|
NM_004960.4(FUS):c.685GGT[4] (p.Gly231_Tyr232insGly)
|
|
|
NM_004960.4(FUS):c.685GGT[5] (p.Gly230_Gly231dup)
|
rs757651881
|
|
NM_004960.4(FUS):c.685GGT[6] (p.Gly229_Gly231dup)
|
rs757651881
|
|
NM_004960.4(FUS):c.689G>T (p.Gly230Val)
|
|
|
NM_004960.4(FUS):c.691G>A (p.Gly231Ser)
|
rs2144114616
|
|
NM_004960.4(FUS):c.700C>T (p.Arg234Cys)
|
|
|
NM_004960.4(FUS):c.702C>T (p.Arg234=)
|
rs149785330
|
|
NM_004960.4(FUS):c.705C>T (p.Ser235=)
|
|
|
NM_004960.4(FUS):c.726A>G (p.Arg242=)
|
rs2144114862
|
|
NM_004960.4(FUS):c.731G>A (p.Arg244His)
|
|
|
NM_004960.4(FUS):c.735_737dup (p.Gly247_Arg248insGly)
|
|
|
NM_004960.4(FUS):c.739_750dup (p.Gly250_Arg251insGlyArgGlyGly)
|
|
|
NM_004960.4(FUS):c.743G>A (p.Arg248His)
|
rs760351730
|
|
NM_004960.4(FUS):c.744T>A (p.Arg248=)
|
rs1596898427
|
|
NM_004960.4(FUS):c.759C>T (p.Gly253=)
|
|
|
NM_004960.4(FUS):c.761T>C (p.Met254Thr)
|
|
|
NM_004960.4(FUS):c.764+9C>G
|
|
|
NM_004960.4(FUS):c.799+13_799+14del
|
|
|
NM_004960.4(FUS):c.810C>T (p.Asp270=)
|
rs1238867683
|
|
NM_004960.4(FUS):c.823C>T (p.His275Tyr)
|
|
|
NM_004960.4(FUS):c.824A>G (p.His275Arg)
|
rs1405011209
|
|
NM_004960.4(FUS):c.831C>T (p.Ser277=)
|
|
|
NM_004960.4(FUS):c.832+13G>A
|
|
|
NM_004960.4(FUS):c.833-10C>G
|
|
|
NM_004960.4(FUS):c.833-6A>G
|
|
|
NM_004960.4(FUS):c.833-9A>T
|
rs1055720509
|
|
NM_004960.4(FUS):c.849C>T (p.Asp283=)
|
|
|
NM_004960.4(FUS):c.884A>G (p.Asn295Ser)
|
|
|
NM_004960.4(FUS):c.906T>C (p.Ala302=)
|
|
|
NM_004960.4(FUS):c.936+12G>A
|
|
|
NM_004960.4(FUS):c.936+21dup
|
rs764726122
|
|
NM_004960.4(FUS):c.936+7G>A
|
|
|
NM_004960.4(FUS):c.937-10C>T
|
rs199705472
|
|
NM_004960.4(FUS):c.96C>T (p.Pro32=)
|
rs932534102
|
|
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)
|
rs1882640177
|
|
NM_005022.4(PFN1):c.211T>G (p.Cys71Gly)
|
rs387907264
|
|
NM_005022.4(PFN1):c.280G>T (p.Gly94Cys)
|
|
|
NM_005022.4(PFN1):c.318_319dup (p.Asp107fs)
|
rs2151134645
|
|
NM_005022.4(PFN1):c.341T>C (p.Met114Thr)
|
rs387907265
|
|
NM_005022.4(PFN1):c.351A>T (p.Glu117Asp)
|
|
|
NM_005022.4(PFN1):c.353G>T (p.Gly118Val)
|
rs387907266
|
|
NM_005235.3(ERBB4):c.1027A>T (p.Met343Leu)
|
|
|
NM_005235.3(ERBB4):c.1289+1G>C
|
|
|
NM_005235.3(ERBB4):c.1885A>G (p.Thr629Ala)
|
|
|
NM_005235.3(ERBB4):c.1947-28dup
|
rs57466272
|
|
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn)
|
rs1574867228
|
|
NM_005235.3(ERBB4):c.2487+8_2487+11del
|
|
|
NM_005235.3(ERBB4):c.2525G>A (p.Arg842Gln)
|
|
|
NM_005235.3(ERBB4):c.3305T>C (p.Phe1102Ser)
|
rs2125319546
|
|
NM_005235.3(ERBB4):c.3337A>G (p.Lys1113Glu)
|
rs2062698939
|
|
NM_005235.3(ERBB4):c.3494C>G (p.Pro1165Arg)
|
|
|
NM_005235.3(ERBB4):c.3814G>A (p.Gly1272Arg)
|
rs371332509
|
|
NM_005235.3(ERBB4):c.3878G>A (p.Gly1293Asp)
|
|
|
NM_005235.3(ERBB4):c.472G>A (p.Ala158Thr)
|
|
|
NM_005235.3(ERBB4):c.625A>T (p.Thr209Ser)
|
|
|
NM_005235.3(ERBB4):c.884-7del
|
rs67894136
|
|
NM_005243.4(EWSR1):c.1783G>A (p.Asp595Asn)
|
rs2061187258
|
|
NM_005866.4(SIGMAR1):c.106G>C (p.Val36Leu)
|
rs2132330402
|
|
NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys)
|
rs867727095
|
|
NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)
|
|
|
NM_005866.4(SIGMAR1):c.130C>G (p.Gln44Glu)
|
|
|
NM_005866.4(SIGMAR1):c.13del (p.Val5fs)
|
rs1564096761
|
|
NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro)
|
rs779459049
|
|
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs)
|
rs1820936580
|
|
NM_005866.4(SIGMAR1):c.151+16G>A
|
|
|
NM_005866.4(SIGMAR1):c.151+16G>C
|
|
|
NM_005866.4(SIGMAR1):c.151+19G>A
|
|
|
NM_005866.4(SIGMAR1):c.151+1G>T
|
rs796065352
|
|
NM_005866.4(SIGMAR1):c.152-16C>T
|
|
|
NM_005866.4(SIGMAR1):c.152-2A>T
|
rs2132329744
|
|
NM_005866.4(SIGMAR1):c.152-4C>A
|
rs1678098962
|
|
NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu)
|
rs2132329730
|
|
NM_005866.4(SIGMAR1):c.153G>T (p.Gly51=)
|
|
|
NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly)
|
rs1382890194
|
|
NM_005866.4(SIGMAR1):c.171C>T (p.Ala57=)
|
|
|
NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del)
|
|
|
NM_005866.4(SIGMAR1):c.177T>G (p.Ser59=)
|
rs1365967267
|
|
NM_005866.4(SIGMAR1):c.198G>C (p.Arg66=)
|
|
|
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs)
|
rs747285235
|
|
NM_005866.4(SIGMAR1):c.202C>T (p.Leu68=)
|
rs2132329481
|
|
NM_005866.4(SIGMAR1):c.207C>T (p.His69=)
|
|
|
NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala)
|
|
|
NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala)
|
|
|
NM_005866.4(SIGMAR1):c.237G>T (p.Leu79=)
|
rs555351774
|
|
NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter)
|
rs1564096221
|
|
NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu)
|
rs1820911034
|
|
NM_005866.4(SIGMAR1):c.255T>C (p.Asn85=)
|
|
|
NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser)
|
rs768933234
|
|
NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg)
|
rs768933234
|
|
NM_005866.4(SIGMAR1):c.261T>A (p.Gly87=)
|
|
|
NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile)
|
rs1820909011
|
|
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs)
|
rs780136067
|
|
NM_005866.4(SIGMAR1):c.291C>T (p.His97=)
|
|
|
NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser)
|
|
|
NM_005866.4(SIGMAR1):c.297G>T (p.Ser99=)
|
|
|
NM_005866.4(SIGMAR1):c.300G>A (p.Leu100=)
|
rs1554707982
|
|
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)
|
rs387906829
|
|
NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys)
|
|
|
NM_005866.4(SIGMAR1):c.309T>C (p.Tyr103=)
|
|
|
NM_005866.4(SIGMAR1):c.30G>T (p.Ala10=)
|
rs1482584320
|
|
NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala)
|
|
|
NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys)
|
rs1234992727
|
|
NM_005866.4(SIGMAR1):c.348C>T (p.His116=)
|
rs978371056
|
|
NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=)
|
|
|
NM_005866.4(SIGMAR1):c.352+10A>G
|
rs2132328730
|
|
NM_005866.4(SIGMAR1):c.352+12C>T
|
|
|
NM_005866.4(SIGMAR1):c.352+16G>C
|
|
|
NM_005866.4(SIGMAR1):c.353-9G>C
|
|
|
NM_005866.4(SIGMAR1):c.356G>A (p.Arg119His)
|
|
|
NM_005866.4(SIGMAR1):c.369G>A (p.Glu123=)
|
rs2132328286
|
|
NM_005866.4(SIGMAR1):c.372C>T (p.Ile124=)
|
rs749047578
|
|
NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)
|
|
|
NM_005866.4(SIGMAR1):c.375G>T (p.Ser125=)
|
rs2132328246
|
|
NM_005866.4(SIGMAR1):c.391G>A (p.Gly131Ser)
|
|
|
NM_005866.4(SIGMAR1):c.39G>C (p.Ala13=)
|
rs2132330807
|
|
NM_005866.4(SIGMAR1):c.445+14C>T
|
|
|
NM_005866.4(SIGMAR1):c.445+17T>A
|
|
|
NM_005866.4(SIGMAR1):c.446-10T>C
|
rs2132324834
|
|
NM_005866.4(SIGMAR1):c.446-16G>A
|
|
|
NM_005866.4(SIGMAR1):c.446-25_*40del
|
rs1554707622
|
|
NM_005866.4(SIGMAR1):c.446-5C>G
|
rs1564095230
|
|
NM_005866.4(SIGMAR1):c.446-7C>G
|
|
|
NM_005866.4(SIGMAR1):c.446G>A (p.Gly149Glu)
|
|
|
NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys)
|
rs757260058
|
|
NM_005866.4(SIGMAR1):c.451A>G (p.Thr151Ala)
|
rs1820836522
|
|
NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)
|
|
|
NM_005866.4(SIGMAR1):c.45C>G (p.Leu15=)
|
rs2132330785
|
|
NM_005866.4(SIGMAR1):c.462C>T (p.His154=)
|
|
|
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg)
|
rs200076129
|
|
NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp)
|
rs200076129
|
|
NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala)
|
rs2132324643
|
|
NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp)
|
rs1820834441
|
|
NM_005866.4(SIGMAR1):c.48G>A (p.Leu16=)
|
|
|
NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter)
|
rs1242817438
|
|
NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu)
|
rs1820832825
|
|
NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln)
|
|
|
NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala)
|
|
|
NM_005866.4(SIGMAR1):c.543C>T (p.Thr181=)
|
rs1820831056
|
|
NM_005866.4(SIGMAR1):c.546G>A (p.Leu182=)
|
|
|
NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del)
|
rs2132324233
|
|
NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr)
|
rs777650644
|
|
NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro)
|
rs777650644
|
|
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs)
|
rs1554707680
|
|
NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)
|
|
|
NM_005866.4(SIGMAR1):c.567T>C (p.Thr189=)
|
|
|
NM_005866.4(SIGMAR1):c.56C>T (p.Ala19Val)
|
|
|
NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)
|
|
|
NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu)
|
rs1406092949
|
|
NM_005866.4(SIGMAR1):c.600C>T (p.Phe200=)
|
|
|
NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe)
|
rs1820825348
|
|
NM_005866.4(SIGMAR1):c.618T>C (p.Tyr206=)
|
|
|
NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu)
|
rs1396152845
|
|
NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)
|
|
|
NM_005866.4(SIGMAR1):c.627C>A (p.Gly209=)
|
rs746866850
|
|
NM_005866.4(SIGMAR1):c.637G>A (p.Glu213Lys)
|
rs2132323906
|
|
NM_005866.4(SIGMAR1):c.63G>A (p.Val21=)
|
|
|
NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs)
|
rs752243393
|
|
NM_005866.4(SIGMAR1):c.660C>T (p.Gly220=)
|
|
|
NM_005866.4(SIGMAR1):c.72G>C (p.Gln24His)
|
rs764002616
|
|
NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg)
|
rs1564096623
|
|
NM_005866.4(SIGMAR1):c.84C>T (p.Leu28=)
|
|
|
NM_005866.4(SIGMAR1):c.89T>C (p.Leu30Pro)
|
rs1820931363
|
|
NM_006000.3(TUBA4A):c.1025A>G (p.Gln342Arg)
|
|
|
NM_006000.3(TUBA4A):c.1169G>A (p.Arg390His)
|
|
|
NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter)
|
rs730880027
|
|
NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)
|
|
|
NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro)
|
rs730880029
|
|
NM_006000.3(TUBA4A):c.648C>A (p.Asn216Lys)
|
|
|
NM_006000.3(TUBA4A):c.727C>A (p.Arg243Ser)
|
|
|
NM_006000.3(TUBA4A):c.842C>T (p.Ala281Val)
|
|
|
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro)
|
rs201455550
|
|
NM_006262.4(PRPH):c.1235A>C (p.His412Pro)
|
|
|
NM_006262.4(PRPH):c.190C>T (p.Arg64Ter)
|
rs1943161245
|
|
NM_006308.3(HSPB3):c.*11G>T
|
rs1761047037
|
|
NM_006308.3(HSPB3):c.*79C>T
|
rs898535055
|
|
NM_006308.3(HSPB3):c.127G>A (p.Val43Met)
|
|
|
NM_006308.3(HSPB3):c.158C>A (p.Ser53Tyr)
|
rs756831768
|
|
NM_006308.3(HSPB3):c.176C>T (p.Ala59Val)
|
|
|
NM_006308.3(HSPB3):c.177G>A (p.Ala59=)
|
|
|
NM_006308.3(HSPB3):c.183G>A (p.Glu61=)
|
rs1761039858
|
|
NM_006308.3(HSPB3):c.185C>T (p.Thr62Met)
|
|
|
NM_006308.3(HSPB3):c.209A>G (p.His70Arg)
|
|
|
NM_006308.3(HSPB3):c.224T>A (p.Leu75Gln)
|
|
|
NM_006308.3(HSPB3):c.229G>A (p.Val77Met)
|
|
|
NM_006308.3(HSPB3):c.229G>T (p.Val77Leu)
|
rs148535965
|
|
NM_006308.3(HSPB3):c.25C>T (p.Leu9Phe)
|
|
|
NM_006308.3(HSPB3):c.261T>C (p.Ile87=)
|
|
|
NM_006308.3(HSPB3):c.275G>A (p.Gly92Asp)
|
rs777949955
|
|
NM_006308.3(HSPB3):c.300C>T (p.His100=)
|
|
|
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln)
|
rs150931007
|
|
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro)
|
rs150931007
|
|
NM_006308.3(HSPB3):c.408T>C (p.Asp136=)
|
|
|
NM_006308.3(HSPB3):c.420G>A (p.Val140=)
|
rs2112803288
|
|
NM_006308.3(HSPB3):c.90G>T (p.Leu30=)
|
rs2112802922
|
|
NM_006308.3(HSPB3):c.92A>G (p.Asp31Gly)
|
|
|
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)
|
rs1197928094
|
|
NM_006415.4(SPTLC1):c.113T>G (p.Leu38Arg)
|
|
|
NM_006415.4(SPTLC1):c.118_123del (p.Phe40_Ser41del)
|
rs2118840030
|
|
NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)
|
rs879254294
|
|
NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe)
|
rs1554716504
|
|
NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter)
|
rs779016234
|
|
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)
|
rs267607087
|
|
NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala)
|
rs1844420892
|
|
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)
|
rs1593910113
|
|
NM_006736.6(DNAJB2):c.*988C>T
|
|
|
NM_006736.6(DNAJB2):c.*990C>G
|
rs754902866
|
|
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)
|
|
|
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs)
|
rs2125081805
|
|
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)
|
rs730882140
|
|
NM_006736.6(DNAJB2):c.168G>C (p.Leu56=)
|
|
|
NM_006736.6(DNAJB2):c.175+11G>T
|
|
|
NM_006736.6(DNAJB2):c.175+19C>G
|
|
|
NM_006736.6(DNAJB2):c.175+9C>G
|
rs776887529
|
|
NM_006736.6(DNAJB2):c.176-10_176-9del
|
|
|
NM_006736.6(DNAJB2):c.176-20G>A
|
|
|
NM_006736.6(DNAJB2):c.17A>G (p.Glu6Gly)
|
|
|
NM_006736.6(DNAJB2):c.187G>A (p.Glu63Lys)
|
rs1322194084
|
|
NM_006736.6(DNAJB2):c.190A>G (p.Ile64Val)
|
rs1165402332
|
|
NM_006736.6(DNAJB2):c.196G>T (p.Asp66Tyr)
|
rs746079387
|
|
NM_006736.6(DNAJB2):c.197_205del (p.Asp66_Tyr68del)
|
rs749724691
|
|
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser)
|
rs140172586
|
|
NM_006736.6(DNAJB2):c.199C>G (p.Arg67Gly)
|
rs140172586
|
|
NM_006736.6(DNAJB2):c.199C>T (p.Arg67Cys)
|
rs140172586
|
|
NM_006736.6(DNAJB2):c.203A>T (p.Tyr68Phe)
|
|
|
NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter)
|
rs2125082259
|
|
NM_006736.6(DNAJB2):c.208C>A (p.Arg70=)
|
rs773179867
|
|
NM_006736.6(DNAJB2):c.216G>A (p.Gly72=)
|
rs2125082264
|
|
NM_006736.6(DNAJB2):c.218T>C (p.Leu73Pro)
|
|
|
NM_006736.6(DNAJB2):c.21C>A (p.Ile7=)
|
|
|
NM_006736.6(DNAJB2):c.229+1G>A
|
rs730882139
|
|
NM_006736.6(DNAJB2):c.229+8G>T
|
rs1181656151
|
|
NM_006736.6(DNAJB2):c.230-19C>G
|
|
|
NM_006736.6(DNAJB2):c.230-4C>A
|
|
|
NM_006736.6(DNAJB2):c.233C>T (p.Thr78Ile)
|
rs1951908601
|
|
NM_006736.6(DNAJB2):c.236G>A (p.Gly79Asp)
|
|
|
NM_006736.6(DNAJB2):c.237C>T (p.Gly79=)
|
rs1408021796
|
|
NM_006736.6(DNAJB2):c.245G>A (p.Arg82Gln)
|
rs576205050
|
|
NM_006736.6(DNAJB2):c.259A>G (p.Ser87Gly)
|
|
|
NM_006736.6(DNAJB2):c.27C>T (p.Asp9=)
|
rs767774707
|
|
NM_006736.6(DNAJB2):c.289C>T (p.Arg97Cys)
|
rs1951909330
|
|
NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly)
|
rs1233939998
|
|
NM_006736.6(DNAJB2):c.310del (p.Arg104fs)
|
rs879253868
|
|
NM_006736.6(DNAJB2):c.337T>C (p.Phe113Leu)
|
rs1349202271
|
|
NM_006736.6(DNAJB2):c.33G>T (p.Pro11=)
|
|
|
NM_006736.6(DNAJB2):c.348C>G (p.Leu116=)
|
|
|
NM_006736.6(DNAJB2):c.353-1G>C
|
|
|
NM_006736.6(DNAJB2):c.363C>G (p.Gly121=)
|
|
|
NM_006736.6(DNAJB2):c.366C>T (p.Pro122=)
|
|
|
NM_006736.6(DNAJB2):c.369C>T (p.Phe123=)
|
|
|
NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp)
|
|
|
NM_006736.6(DNAJB2):c.405C>T (p.Gly135=)
|
|
|
NM_006736.6(DNAJB2):c.406C>G (p.Pro136Ala)
|
rs1951918459
|
|
NM_006736.6(DNAJB2):c.408C>T (p.Pro136=)
|
|
|
NM_006736.6(DNAJB2):c.408CTT[1] (p.Phe138del)
|
rs916480780
|
|
NM_006736.6(DNAJB2):c.411C>T (p.Phe137=)
|
rs770337874
|
|
NM_006736.6(DNAJB2):c.425C>T (p.Ser142Phe)
|
|
|
NM_006736.6(DNAJB2):c.426C>T (p.Ser142=)
|
rs1235987345
|
|
NM_006736.6(DNAJB2):c.433C>T (p.Pro145Ser)
|
|
|
NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro)
|
rs1223035732
|
|
NM_006736.6(DNAJB2):c.445+11C>T
|
|
|
NM_006736.6(DNAJB2):c.445+17C>T
|
|
|
NM_006736.6(DNAJB2):c.445+1G>A
|
|
|
NM_006736.6(DNAJB2):c.445+8C>T
|
rs1553575245
|
|
NM_006736.6(DNAJB2):c.445+9T>A
|
rs2125082819
|
|
NM_006736.6(DNAJB2):c.446-1G>A
|
rs2125082935
|
|
NM_006736.6(DNAJB2):c.446-2A>G
|
rs758322672
|
|
NM_006736.6(DNAJB2):c.446-3C>T
|
rs1951921657
|
|
NM_006736.6(DNAJB2):c.446-4C>A
|
rs1574901171
|
|
NM_006736.6(DNAJB2):c.449T>C (p.Phe150Ser)
|
rs1951921696
|
|
NM_006736.6(DNAJB2):c.454T>C (p.Ser152Pro)
|
rs1951921760
|
|
NM_006736.6(DNAJB2):c.459A>C (p.Ser153=)
|
|
|
NM_006736.6(DNAJB2):c.476C>G (p.Pro159Arg)
|
rs1951922090
|
|
NM_006736.6(DNAJB2):c.499G>A (p.Val167Ile)
|
|
|
NM_006736.6(DNAJB2):c.4G>A (p.Ala2Thr)
|
rs2125081450
|
|
NM_006736.6(DNAJB2):c.507A>C (p.Thr169=)
|
|
|
NM_006736.6(DNAJB2):c.509C>T (p.Ser170Phe)
|
rs1951922399
|
|
NM_006736.6(DNAJB2):c.520G>T (p.Val174Phe)
|
rs2125082980
|
|
NM_006736.6(DNAJB2):c.524A>G (p.Gln175Arg)
|
rs1559286796
|
|
NM_006736.6(DNAJB2):c.529C>T (p.Arg177Cys)
|
rs1415279774
|
|
NM_006736.6(DNAJB2):c.538A>G (p.Thr180Ala)
|
rs1317732158
|
|
NM_006736.6(DNAJB2):c.548+13T>G
|
|
|
NM_006736.6(DNAJB2):c.548+19G>C
|
|
|
NM_006736.6(DNAJB2):c.548+4A>G
|
|
|
NM_006736.6(DNAJB2):c.548+5G>A
|
rs1951923213
|
|
NM_006736.6(DNAJB2):c.548+7G>C
|
rs1559286820
|
|
NM_006736.6(DNAJB2):c.549-4A>G
|
rs548673998
|
|
NM_006736.6(DNAJB2):c.555G>A (p.Met185Ile)
|
rs1574901375
|
|
NM_006736.6(DNAJB2):c.562G>A (p.Gly188Arg)
|
|
|
NM_006736.6(DNAJB2):c.572G>A (p.Arg191Gln)
|
|
|
NM_006736.6(DNAJB2):c.582G>A (p.Val194=)
|
|
|
NM_006736.6(DNAJB2):c.583G>C (p.Glu195Gln)
|
rs2125083127
|
|
NM_006736.6(DNAJB2):c.619+16C>T
|
|
|
NM_006736.6(DNAJB2):c.619+8G>A
|
|
|
NM_006736.6(DNAJB2):c.620-6T>C
|
|
|
NM_006736.6(DNAJB2):c.620G>T (p.Gly207Val)
|
|
|
NM_006736.6(DNAJB2):c.625C>T (p.Pro209Ser)
|
rs769946182
|
|
NM_006736.6(DNAJB2):c.638_649dup (p.Ala213_Leu216dup)
|
rs1016678138
|
|
NM_006736.6(DNAJB2):c.639A>G (p.Ala213=)
|
|
|
NM_006736.6(DNAJB2):c.63G>A (p.Lys21=)
|
rs970821372
|
|
NM_006736.6(DNAJB2):c.640C>T (p.Leu214=)
|
|
|
NM_006736.6(DNAJB2):c.641T>C (p.Leu214Pro)
|
|
|
NM_006736.6(DNAJB2):c.645C>T (p.Gly215=)
|
|
|
NM_006736.6(DNAJB2):c.65+10T>G
|
|
|
NM_006736.6(DNAJB2):c.65+12C>T
|
|
|
NM_006736.6(DNAJB2):c.65+1G>A
|
|
|
NM_006736.6(DNAJB2):c.65+5G>T
|
|
|
NM_006736.6(DNAJB2):c.658C>A (p.Arg220Ser)
|
rs373611775
|
|
NM_006736.6(DNAJB2):c.65C>A (p.Ala22Glu)
|
rs1357690630
|
|
NM_006736.6(DNAJB2):c.66-11A>G
|
|
|
NM_006736.6(DNAJB2):c.66-16C>T
|
|
|
NM_006736.6(DNAJB2):c.66-18T>C
|
|
|
NM_006736.6(DNAJB2):c.663C>T (p.Arg221=)
|
rs377593022
|
|
NM_006736.6(DNAJB2):c.671A>C (p.Gln224Pro)
|
|
|
NM_006736.6(DNAJB2):c.68A>G (p.Tyr23Cys)
|
rs1951895139
|
|
NM_006736.6(DNAJB2):c.693T>G (p.Ser231=)
|
rs2125083703
|
|
NM_006736.6(DNAJB2):c.708C>T (p.Val236=)
|
rs762345246
|
|
NM_006736.6(DNAJB2):c.70C>T (p.Arg24Trp)
|
rs370819068
|
|
NM_006736.6(DNAJB2):c.71G>A (p.Arg24Gln)
|
rs780839621
|
|
NM_006736.6(DNAJB2):c.723C>T (p.Ala241=)
|
rs891313732
|
|
NM_006736.6(DNAJB2):c.72G>A (p.Arg24=)
|
|
|
NM_006736.6(DNAJB2):c.730C>T (p.Pro244Ser)
|
rs749436734
|
|
NM_006736.6(DNAJB2):c.739A>G (p.Ser247Gly)
|
rs2125083744
|
|
NM_006736.6(DNAJB2):c.741C>T (p.Ser247=)
|
|
|
NM_006736.6(DNAJB2):c.74G>A (p.Arg25His)
|
rs1403156116
|
|
NM_006736.6(DNAJB2):c.750T>G (p.Ser250=)
|
|
|
NM_006736.6(DNAJB2):c.756T>C (p.Asp252=)
|
rs2125083748
|
|
NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys)
|
rs1018405924
|
|
NM_006736.6(DNAJB2):c.775A>G (p.Met259Val)
|
rs769533786
|
|
NM_006736.6(DNAJB2):c.805G>A (p.Ala269Thr)
|
rs762419182
|
|
NM_006736.6(DNAJB2):c.819C>T (p.Pro273=)
|
|
|
NM_006736.6(DNAJB2):c.820G>A (p.Ala274Thr)
|
|
|
NM_006736.6(DNAJB2):c.825T>A (p.Gly275=)
|
rs1574902248
|
|
NM_006736.6(DNAJB2):c.827G>A (p.Gly276Glu)
|
rs753991111
|
|
NM_006736.6(DNAJB2):c.829C>T (p.Arg277Trp)
|
rs755166275
|
|
NM_006736.6(DNAJB2):c.839A>G (p.Gln280Arg)
|
|
|
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)
|
rs1951895452
|
|
NM_006736.6(DNAJB2):c.928C>T (p.Arg310Cys)
|
|
|
NM_006736.6(DNAJB2):c.96A>G (p.Pro32=)
|
|
|
NM_006736.6(DNAJB2):c.99C>G (p.Asp33Glu)
|
|
|
NM_007046.4(EMILIN1):c.748C>T (p.Arg250Cys)
|
|
|
NM_007126.5(VCP):c.*216G>A
|
rs567542622
|
|
NM_007126.5(VCP):c.*788G>A
|
rs886063887
|
|
NM_007126.5(VCP):c.-53C>T
|
rs369830702
|
|
NM_007126.5(VCP):c.1017A>G (p.Ala339=)
|
rs565534943
|
|
NM_007126.5(VCP):c.1031T>C (p.Met344Thr)
|
|
|
NM_007126.5(VCP):c.1050C>G (p.Pro350=)
|
|
|
NM_007126.5(VCP):c.1058T>C (p.Ile353Thr)
|
|
|
NM_007126.5(VCP):c.1081+15T>C
|
|
|
NM_007126.5(VCP):c.1081+17C>A
|
|
|
NM_007126.5(VCP):c.1081+8C>A
|
rs763106348
|
|
NM_007126.5(VCP):c.1081+9T>C
|
rs773115735
|
|
NM_007126.5(VCP):c.1082-18_1082-8dup
|
rs11272867
|
|
NM_007126.5(VCP):c.1082-8_1082-7insTGTTTGTGTAT
|
|
|
NM_007126.5(VCP):c.1095G>A (p.Arg365=)
|
|
|
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)
|
rs1828723406
|
|
NM_007126.5(VCP):c.1107T>C (p.Ile369=)
|
|
|
NM_007126.5(VCP):c.1115C>T (p.Pro372Leu)
|
|
|
NM_007126.5(VCP):c.1137G>A (p.Glu379=)
|
|
|
NM_007126.5(VCP):c.1144C>G (p.Gln382Glu)
|
rs1828722725
|
|
NM_007126.5(VCP):c.1156A>G (p.Lys386Glu)
|
rs1563977665
|
|
NM_007126.5(VCP):c.1160A>G (p.Asn387Ser)
|
|
|
NM_007126.5(VCP):c.1179T>C (p.Asp393=)
|
|
|
NM_007126.5(VCP):c.1180G>A (p.Val394Met)
|
rs1587122661
|
|
NM_007126.5(VCP):c.1182G>A (p.Val394=)
|
rs1828721841
|
|
NM_007126.5(VCP):c.1186C>G (p.Leu396Val)
|
rs2131031813
|
|
NM_007126.5(VCP):c.1191A>G (p.Glu397=)
|
rs1587122637
|
|
NM_007126.5(VCP):c.1194+12A>G
|
|
|
NM_007126.5(VCP):c.1194+8G>A
|
|
|
NM_007126.5(VCP):c.1194+9A>G
|
|
|
NM_007126.5(VCP):c.1194+9ATG[2]
|
rs886038581
|
|
NM_007126.5(VCP):c.1195-12C>G
|
|
|
NM_007126.5(VCP):c.1197A>G (p.Val399=)
|
rs886044575
|
|
NM_007126.5(VCP):c.1198G>T (p.Ala400Ser)
|
|
|
NM_007126.5(VCP):c.11G>A (p.Gly4Glu)
|
|
|
NM_007126.5(VCP):c.1202A>T (p.Asn401Ile)
|
rs148329626
|
|
NM_007126.5(VCP):c.1265C>G (p.Ala422Gly)
|
rs2131031304
|
|
NM_007126.5(VCP):c.1283A>T (p.Asp428Val)
|
rs2131031300
|
|
NM_007126.5(VCP):c.1287C>T (p.Leu429=)
|
|
|
NM_007126.5(VCP):c.129+11G>C
|
rs941014724
|
|
NM_007126.5(VCP):c.129+12C>T
|
rs1469170170
|
|
NM_007126.5(VCP):c.1293C>T (p.Asp431=)
|
rs1828712869
|
|
NM_007126.5(VCP):c.1299G>A (p.Glu433=)
|
|
|
NM_007126.5(VCP):c.130-20C>T
|
|
|
NM_007126.5(VCP):c.130-6C>T
|
|
|
NM_007126.5(VCP):c.130-9T>C
|
rs1828868223
|
|
NM_007126.5(VCP):c.1307C>T (p.Thr436Ile)
|
|
|
NM_007126.5(VCP):c.1309A>G (p.Ile437Val)
|
|
|
NM_007126.5(VCP):c.1310T>C (p.Ile437Thr)
|
|
|
NM_007126.5(VCP):c.1318G>A (p.Glu440Lys)
|
rs955652521
|
|
NM_007126.5(VCP):c.1324A>G (p.Met442Val)
|
rs1828712085
|
|
NM_007126.5(VCP):c.1329C>T (p.Asn443=)
|
rs748816624
|
|
NM_007126.5(VCP):c.1332T>C (p.Ser444=)
|
rs2131031228
|
|
NM_007126.5(VCP):c.1333C>T (p.Leu445=)
|
|
|
NM_007126.5(VCP):c.1338A>G (p.Ala446=)
|
|
|
NM_007126.5(VCP):c.1341T>C (p.Val447=)
|
|
|
NM_007126.5(VCP):c.1357C>T (p.Arg453Trp)
|
rs755519450
|
|
NM_007126.5(VCP):c.1359+11C>T
|
|
|
NM_007126.5(VCP):c.1359+16G>A
|
|
|
NM_007126.5(VCP):c.1359+17T>A
|
|
|
NM_007126.5(VCP):c.1359+8C>T
|
|
|
NM_007126.5(VCP):c.1360-5T>C
|
rs772756435
|
|
NM_007126.5(VCP):c.1360-9C>T
|
rs770599017
|
|
NM_007126.5(VCP):c.1374G>C (p.Gln458His)
|
rs1060499674
|
|
NM_007126.5(VCP):c.1383A>G (p.Pro461=)
|
|
|
NM_007126.5(VCP):c.1416A>G (p.Pro472=)
|
|
|
NM_007126.5(VCP):c.1433A>G (p.Asp478Gly)
|
rs1554668345
|
|
NM_007126.5(VCP):c.1465C>T (p.Leu489=)
|
|
|
NM_007126.5(VCP):c.1467A>G (p.Leu489=)
|
|
|
NM_007126.5(VCP):c.1476G>A (p.Leu492=)
|
rs759475496
|
|
NM_007126.5(VCP):c.1479C>G (p.Val493=)
|
|
|
NM_007126.5(VCP):c.1482+10C>T
|
|
|
NM_007126.5(VCP):c.1483-14C>T
|
rs776057031
|
|
NM_007126.5(VCP):c.1488T>C (p.Pro496=)
|
rs1563976866
|
|
NM_007126.5(VCP):c.1528C>T (p.Pro510Ser)
|
|
|
NM_007126.5(VCP):c.1569G>T (p.Gly523=)
|
|
|
NM_007126.5(VCP):c.1587A>G (p.Lys529=)
|
|
|
NM_007126.5(VCP):c.15C>T (p.Ala5=)
|
rs1253022077
|
|
NM_007126.5(VCP):c.1617C>T (p.Phe539=)
|
rs2131030379
|
|
NM_007126.5(VCP):c.1623C>T (p.Ser541=)
|
|
|
NM_007126.5(VCP):c.1637A>G (p.Glu546Gly)
|
|
|
NM_007126.5(VCP):c.1680A>G (p.Arg560=)
|
|
|
NM_007126.5(VCP):c.168A>C (p.Thr56=)
|
rs1373925196
|
|
NM_007126.5(VCP):c.168A>G (p.Thr56=)
|
|
|
NM_007126.5(VCP):c.1695+18G>A
|
|
|
NM_007126.5(VCP):c.1696-11_1696-10insA
|
|
|
NM_007126.5(VCP):c.1696-15C>G
|
rs1048514063
|
|
NM_007126.5(VCP):c.1696-34_1716dup
|
rs2131029563
|
|
NM_007126.5(VCP):c.1696-3C>T
|
|
|
NM_007126.5(VCP):c.1696-5dup
|
rs2131029583
|
|
NM_007126.5(VCP):c.1696-7C>T
|
rs1554668202
|
|
NM_007126.5(VCP):c.1699C>T (p.Arg567Cys)
|
|
|
NM_007126.5(VCP):c.17+8_17+9del
|
|
|
NM_007126.5(VCP):c.1722A>G (p.Leu574=)
|
|
|
NM_007126.5(VCP):c.1731T>C (p.Asp577=)
|
|
|
NM_007126.5(VCP):c.1743G>A (p.Ser581=)
|
|
|
NM_007126.5(VCP):c.1743G>T (p.Ser581=)
|
|
|
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn)
|
rs387906790
|
|
NM_007126.5(VCP):c.1790C>T (p.Ala597Val)
|
rs890637602
|
|
NM_007126.5(VCP):c.18-6T>A
|
rs1587130773
|
|
NM_007126.5(VCP):c.18-6T>C
|
|
|
NM_007126.5(VCP):c.18-8C>T
|
|
|
NM_007126.5(VCP):c.18-9_18-8del
|
|
|
NM_007126.5(VCP):c.1818A>G (p.Thr606=)
|
|
|
NM_007126.5(VCP):c.1837A>G (p.Thr613Ala)
|
rs2131029426
|
|
NM_007126.5(VCP):c.1839A>C (p.Thr613=)
|
rs77203288
|
|
NM_007126.5(VCP):c.1842A>G (p.Lys614=)
|
|
|
NM_007126.5(VCP):c.1847dup (p.Asn616fs)
|
rs751290466
|
|
NM_007126.5(VCP):c.1854C>T (p.Phe618=)
|
|
|
NM_007126.5(VCP):c.185A>G (p.Lys62Arg)
|
rs886063892
|
|
NM_007126.5(VCP):c.1864G>T (p.Ala622Ser)
|
rs1828681453
|
|
NM_007126.5(VCP):c.1884C>T (p.Ile628=)
|
|
|
NM_007126.5(VCP):c.1896C>A (p.Ala632=)
|
rs141275388
|
|
NM_007126.5(VCP):c.1896C>G (p.Ala632=)
|
|
|
NM_007126.5(VCP):c.1915C>A (p.Leu639Ile)
|
|
|
NM_007126.5(VCP):c.192A>G (p.Arg64=)
|
rs1828866649
|
|
NM_007126.5(VCP):c.1944T>C (p.Pro648=)
|
rs1828679866
|
|
NM_007126.5(VCP):c.194G>A (p.Arg65Gln)
|
|
|
NM_007126.5(VCP):c.1950G>A (p.Glu650=)
|
rs752382520
|
|
NM_007126.5(VCP):c.1972A>C (p.Lys658Gln)
|
|
|
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys)
|
rs765795425
|
|
NM_007126.5(VCP):c.1993C>T (p.Pro665Ser)
|
rs2131029246
|
|
NM_007126.5(VCP):c.2004+8C>T
|
|
|
NM_007126.5(VCP):c.2005-14G>A
|
|
|
NM_007126.5(VCP):c.2005-20A>G
|
|
|
NM_007126.5(VCP):c.2005-6T>C
|
|
|
NM_007126.5(VCP):c.2005-9T>C
|
|
|
NM_007126.5(VCP):c.2014T>G (p.Leu672Val)
|
rs757829124
|
|
NM_007126.5(VCP):c.2036C>T (p.Thr679Ile)
|
|
|
NM_007126.5(VCP):c.207C>T (p.Cys69=)
|
|
|
NM_007126.5(VCP):c.2110G>A (p.Glu704Lys)
|
|
|
NM_007126.5(VCP):c.2111A>C (p.Glu704Ala)
|
|
|
NM_007126.5(VCP):c.211G>A (p.Val71Ile)
|
|
|
NM_007126.5(VCP):c.2134G>C (p.Glu712Gln)
|
|
|
NM_007126.5(VCP):c.2143A>G (p.Thr715Ala)
|
|
|
NM_007126.5(VCP):c.2151A>G (p.Pro717=)
|
|
|
NM_007126.5(VCP):c.2160+14C>A
|
rs1480730816
|
|
NM_007126.5(VCP):c.2161-20T>A
|
|
|
NM_007126.5(VCP):c.2161-5T>C
|
rs2131026711
|
|
NM_007126.5(VCP):c.2175T>C (p.Asp725=)
|
rs2131026686
|
|
NM_007126.5(VCP):c.2190G>T (p.Glu730Asp)
|
|
|
NM_007126.5(VCP):c.2197C>A (p.Arg733=)
|
rs2131026649
|
|
NM_007126.5(VCP):c.2205C>T (p.His735=)
|
|
|
NM_007126.5(VCP):c.2221C>T (p.Arg741Cys)
|
|
|
NM_007126.5(VCP):c.2223C>T (p.Arg741=)
|
rs775316749
|
|
NM_007126.5(VCP):c.2228C>T (p.Ala743Val)
|
rs771662410
|
|
NM_007126.5(VCP):c.2233C>T (p.Arg745Cys)
|
rs2131026595
|
|
NM_007126.5(VCP):c.2234G>A (p.Arg745His)
|
|
|
NM_007126.5(VCP):c.2242A>T (p.Ser748Cys)
|
rs1828632660
|
|
NM_007126.5(VCP):c.2244T>C (p.Ser748=)
|
|
|
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys)
|
rs1587117319
|
|
NM_007126.5(VCP):c.2298G>A (p.Arg766=)
|
|
|
NM_007126.5(VCP):c.230G>A (p.Cys77Tyr)
|
|
|
NM_007126.5(VCP):c.2315+10T>C
|
|
|
NM_007126.5(VCP):c.2315+6T>C
|
|
|
NM_007126.5(VCP):c.2316-11C>G
|
|
|
NM_007126.5(VCP):c.2316-5C>T
|
|
|
NM_007126.5(VCP):c.2334G>A (p.Gln778=)
|
|
|
NM_007126.5(VCP):c.2343T>C (p.Ala781=)
|
|
|
NM_007126.5(VCP):c.2345G>C (p.Gly782Ala)
|
rs1828626335
|
|
NM_007126.5(VCP):c.2345G>T (p.Gly782Val)
|
rs1828626335
|
|
NM_007126.5(VCP):c.234T>C (p.Ser78=)
|
rs1202208932
|
|
NM_007126.5(VCP):c.2367C>T (p.Gly789=)
|
|
|
NM_007126.5(VCP):c.2370C>T (p.Gly790=)
|
|
|
NM_007126.5(VCP):c.2373A>G (p.Thr791=)
|
|
|
NM_007126.5(VCP):c.2381G>A (p.Ser794Asn)
|
|
|
NM_007126.5(VCP):c.2385A>G (p.Val795=)
|
|
|
NM_007126.5(VCP):c.2391A>G (p.Thr797=)
|
|
|
NM_007126.5(VCP):c.2420A>G (p.Ter807=)
|
|
|
NM_007126.5(VCP):c.244A>C (p.Ile82Leu)
|
|
|
NM_007126.5(VCP):c.255T>C (p.Asn85=)
|
|
|
NM_007126.5(VCP):c.258A>G (p.Arg86=)
|
rs1563980979
|
|
NM_007126.5(VCP):c.265C>T (p.Arg89Trp)
|
rs1828865320
|
|
NM_007126.5(VCP):c.266G>A (p.Arg89Gln)
|
|
|
NM_007126.5(VCP):c.268A>G (p.Asn90Asp)
|
rs1828865209
|
|
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)
|
rs863225291
|
|
NM_007126.5(VCP):c.273C>A (p.Asn91Lys)
|
rs1563980966
|
|
NM_007126.5(VCP):c.273C>G (p.Asn91Lys)
|
rs1563980966
|
|
NM_007126.5(VCP):c.277C>T (p.Arg93Cys)
|
rs1554669087
|
|
NM_007126.5(VCP):c.283C>A (p.Arg95Ser)
|
|
|
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)
|
rs121909332
|
|
NM_007126.5(VCP):c.284G>C (p.Arg95Pro)
|
rs758169026
|
|
NM_007126.5(VCP):c.288A>G (p.Leu96=)
|
|
|
NM_007126.5(VCP):c.290G>A (p.Gly97Glu)
|
rs864309502
|
|
NM_007126.5(VCP):c.291G>A (p.Gly97=)
|
|
|
NM_007126.5(VCP):c.298A>G (p.Ile100Val)
|
|
|
NM_007126.5(VCP):c.302+11G>C
|
|
|
NM_007126.5(VCP):c.302+2TG[3]
|
rs748148701
|
|
NM_007126.5(VCP):c.302+8T>G
|
|
|
NM_007126.5(VCP):c.303-21_303-19del
|
rs571628729
|
|
NM_007126.5(VCP):c.303-4T>G
|
|
|
NM_007126.5(VCP):c.303-5C>T
|
|
|
NM_007126.5(VCP):c.310C>T (p.Pro104Ser)
|
rs1186937475
|
|
NM_007126.5(VCP):c.313T>C (p.Cys105Arg)
|
rs1828842736
|
|
NM_007126.5(VCP):c.318T>C (p.Pro106=)
|
|
|
NM_007126.5(VCP):c.320A>T (p.Asp107Val)
|
rs1563980440
|
|
NM_007126.5(VCP):c.34C>T (p.Leu12=)
|
|
|
NM_007126.5(VCP):c.355A>G (p.Ile119Val)
|
|
|
NM_007126.5(VCP):c.365C>T (p.Thr122Ile)
|
rs2131038987
|
|
NM_007126.5(VCP):c.366A>G (p.Thr122=)
|
rs1397108432
|
|
NM_007126.5(VCP):c.367G>A (p.Val123Met)
|
rs2131038977
|
|
NM_007126.5(VCP):c.367G>C (p.Val123Leu)
|
|
|
NM_007126.5(VCP):c.372A>G (p.Glu124=)
|
rs1587128887
|
|
NM_007126.5(VCP):c.374G>A (p.Gly125Asp)
|
rs1563980403
|
|
NM_007126.5(VCP):c.375C>T (p.Gly125=)
|
|
|
NM_007126.5(VCP):c.377T>G (p.Ile126Ser)
|
rs1828841085
|
|
NM_007126.5(VCP):c.380C>T (p.Thr127Ile)
|
|
|
NM_007126.5(VCP):c.382G>A (p.Gly128Ser)
|
|
|
NM_007126.5(VCP):c.382G>C (p.Gly128Arg)
|
|
|
NM_007126.5(VCP):c.383G>C (p.Gly128Ala)
|
rs1554668979
|
|
NM_007126.5(VCP):c.390C>G (p.Leu130=)
|
rs1587128848
|
|
NM_007126.5(VCP):c.393C>T (p.Phe131=)
|
|
|
NM_007126.5(VCP):c.397G>T (p.Val133Leu)
|
|
|
NM_007126.5(VCP):c.399A>G (p.Val133=)
|
|
|
NM_007126.5(VCP):c.400T>C (p.Tyr134His)
|
|
|
NM_007126.5(VCP):c.401A>G (p.Tyr134Cys)
|
rs1828840466
|
|
NM_007126.5(VCP):c.401A>T (p.Tyr134Phe)
|
|
|
NM_007126.5(VCP):c.407A>C (p.Lys136Thr)
|
|
|
NM_007126.5(VCP):c.411G>A (p.Pro137=)
|
|
|
NM_007126.5(VCP):c.411G>C (p.Pro137=)
|
|
|
NM_007126.5(VCP):c.445+8C>G
|
|
|
NM_007126.5(VCP):c.446-11T>C
|
rs746343398
|
|
NM_007126.5(VCP):c.446-19G>T
|
|
|
NM_007126.5(VCP):c.446-4G>T
|
|
|
NM_007126.5(VCP):c.446-4_446-3delinsAT
|
rs1828808684
|
|
NM_007126.5(VCP):c.446-7C>G
|
|
|
NM_007126.5(VCP):c.446-7C>T
|
rs757560700
|
|
NM_007126.5(VCP):c.453T>G (p.Ile151Met)
|
rs1828808459
|
|
NM_007126.5(VCP):c.45C>T (p.Ala15=)
|
rs2131041103
|
|
NM_007126.5(VCP):c.460G>T (p.Val154Phe)
|
rs1587127201
|
|
NM_007126.5(VCP):c.463C>A (p.Arg155Ser)
|
rs121909330
|
|
NM_007126.5(VCP):c.463C>G (p.Arg155Gly)
|
rs121909330
|
|
NM_007126.5(VCP):c.463C>T (p.Arg155Cys)
|
rs121909330
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007126.5(VCP):c.464G>C (p.Arg155Pro)
|
rs121909329
|
|
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)
|
|
|
NM_007126.5(VCP):c.467G>T (p.Gly156Val)
|
|
|
NM_007126.5(VCP):c.469G>A (p.Gly157Arg)
|
rs1554668814
|
|
NM_007126.5(VCP):c.472A>G (p.Met158Val)
|
rs1554668813
|
|
NM_007126.5(VCP):c.475C>A (p.Arg159Ser)
|
rs387906789
|
|
NM_007126.5(VCP):c.475C>G (p.Arg159Gly)
|
rs387906789
|
|
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)
|
rs387906789
|
|
NM_007126.5(VCP):c.478G>C (p.Ala160Pro)
|
rs1554668805
|
|
NM_007126.5(VCP):c.479C>T (p.Ala160Val)
|
rs1554668804
|
|
NM_007126.5(VCP):c.486G>C (p.Glu162Asp)
|
|
|
NM_007126.5(VCP):c.487T>A (p.Phe163Ile)
|
|
|
NM_007126.5(VCP):c.512G>A (p.Ser171Asn)
|
rs200911363
|
|
NM_007126.5(VCP):c.512G>T (p.Ser171Ile)
|
rs200911363
|
|
NM_007126.5(VCP):c.522C>T (p.Cys174=)
|
|
|
NM_007126.5(VCP):c.523A>G (p.Ile175Val)
|
rs1828806031
|
|
NM_007126.5(VCP):c.531T>A (p.Ala177=)
|
rs1032568811
|
|
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)
|
rs864309501
|
|
NM_007126.5(VCP):c.555A>G (p.Glu185=)
|
|
|
NM_007126.5(VCP):c.565A>G (p.Ile189Val)
|
|
|
NM_007126.5(VCP):c.571C>A (p.Arg191=)
|
|
|
NM_007126.5(VCP):c.572G>C (p.Arg191Pro)
|
rs121909334
|
|
NM_007126.5(VCP):c.576+10C>G
|
rs757728490
|
|
NM_007126.5(VCP):c.576+10C>T
|
|
|
NM_007126.5(VCP):c.576+14_576+15del
|
|
|
NM_007126.5(VCP):c.577-15C>G
|
rs1587126066
|
|
NM_007126.5(VCP):c.577-15C>T
|
rs1587126066
|
|
NM_007126.5(VCP):c.577-21_577-18del
|
rs763622603
|
|
NM_007126.5(VCP):c.577-2A>G
|
rs1828784075
|
|
NM_007126.5(VCP):c.584A>G (p.Glu195Gly)
|
|
|
NM_007126.5(VCP):c.591C>G (p.Ser197=)
|
rs866003333
|
|
NM_007126.5(VCP):c.605G>A (p.Gly202Glu)
|
|
|
NM_007126.5(VCP):c.606G>A (p.Gly202=)
|
|
|
NM_007126.5(VCP):c.627C>T (p.Cys209=)
|
|
|
NM_007126.5(VCP):c.636G>C (p.Gln212His)
|
|
|
NM_007126.5(VCP):c.648A>G (p.Ile216Met)
|
rs1828783140
|
|
NM_007126.5(VCP):c.663A>G (p.Glu221=)
|
|
|
NM_007126.5(VCP):c.664C>T (p.Leu222=)
|
rs2131035159
|
|
NM_007126.5(VCP):c.666G>A (p.Leu222=)
|
|
|
NM_007126.5(VCP):c.670C>T (p.Leu224=)
|
rs1828782859
|
|
NM_007126.5(VCP):c.672G>C (p.Leu224=)
|
|
|
NM_007126.5(VCP):c.677A>T (p.His226Leu)
|
rs2131035134
|
|
NM_007126.5(VCP):c.684C>T (p.Ala228=)
|
|
|
NM_007126.5(VCP):c.708+12G>C
|
|
|
NM_007126.5(VCP):c.708+16T>G
|
|
|
NM_007126.5(VCP):c.708+20G>A
|
|
|
NM_007126.5(VCP):c.709-18C>G
|
|
|
NM_007126.5(VCP):c.709-19_709-18del
|
|
|
NM_007126.5(VCP):c.709-4A>G
|
rs1587124649
|
|
NM_007126.5(VCP):c.722T>C (p.Ile241Thr)
|
|
|
NM_007126.5(VCP):c.726G>A (p.Leu242=)
|
|
|
NM_007126.5(VCP):c.729T>G (p.Leu243=)
|
|
|
NM_007126.5(VCP):c.735A>G (p.Gly245=)
|
|
|
NM_007126.5(VCP):c.738T>A (p.Pro246=)
|
rs560145873
|
|
NM_007126.5(VCP):c.756C>T (p.Thr252=)
|
|
|
NM_007126.5(VCP):c.759G>C (p.Leu253=)
|
|
|
NM_007126.5(VCP):c.760A>T (p.Ile254Phe)
|
|
|
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)
|
|
|
NM_007126.5(VCP):c.767G>A (p.Arg256Gln)
|
rs1828757317
|
|
NM_007126.5(VCP):c.792C>T (p.Ala264=)
|
rs1828756572
|
|
NM_007126.5(VCP):c.792CTT[3] (p.Phe267del)
|
|
|
NM_007126.5(VCP):c.794T>C (p.Phe265Ser)
|
rs1828756507
|
|
NM_007126.5(VCP):c.807C>T (p.Ile269=)
|
|
|
NM_007126.5(VCP):c.810T>C (p.Asn270=)
|
rs1372175418
|
|
NM_007126.5(VCP):c.811+13G>C
|
|
|
NM_007126.5(VCP):c.811+13G>T
|
|
|
NM_007126.5(VCP):c.811+14T>C
|
|
|
NM_007126.5(VCP):c.811+17A>G
|
|
|
NM_007126.5(VCP):c.811+19C>T
|
|
|
NM_007126.5(VCP):c.811+2_811+3inv
|
|
|
NM_007126.5(VCP):c.811+8A>G
|
|
|
NM_007126.5(VCP):c.811+9T>C
|
|
|
NM_007126.5(VCP):c.812-17A>G
|
|
|
NM_007126.5(VCP):c.812-19C>G
|
|
|
NM_007126.5(VCP):c.812-9T>C
|
|
|
NM_007126.5(VCP):c.82G>A (p.Val28Ile)
|
rs1480586527
|
|
NM_007126.5(VCP):c.840T>C (p.Gly280=)
|
|
|
NM_007126.5(VCP):c.84T>A (p.Val28=)
|
rs1587130660
|
|
NM_007126.5(VCP):c.894T>A (p.Pro298=)
|
|
|
NM_007126.5(VCP):c.945+11A>C
|
|
|
NM_007126.5(VCP):c.945+16A>C
|
|
|
NM_007126.5(VCP):c.946-12del
|
rs2131032564
|
|
NM_007126.5(VCP):c.946-15A>T
|
rs2131032568
|
|
NM_007126.5(VCP):c.946-17A>G
|
|
|
NM_007126.5(VCP):c.946-17dup
|
rs2131032583
|
|
NM_007126.5(VCP):c.946-20C>T
|
|
|
NM_007126.5(VCP):c.946-8T>A
|
rs1563977996
|
|
NM_007126.5(VCP):c.94A>G (p.Ile32Val)
|
rs1828872947
|
|
NM_007126.5(VCP):c.951T>C (p.His317=)
|
|
|
NM_007126.5(VCP):c.982T>C (p.Leu328=)
|
rs1025521461
|
|
NM_007126.5(VCP):c.995T>C (p.Met332Thr)
|
rs1828737891
|
|
NM_007126.5(VCP):c.9T>C (p.Ser3=)
|
|
|
NM_007204.5(DDX20):c.2237T>C (p.Leu746Ser)
|
rs1663787736
|
|
NM_007375.4(TARDBP):c.*1084A>T
|
rs886045041
|
|
NM_007375.4(TARDBP):c.*142T>C
|
rs1643667051
|
|
NM_007375.4(TARDBP):c.*159A>C
|
rs886045037
|
|
NM_007375.4(TARDBP):c.*2005T>C
|
rs886045045
|
|
NM_007375.4(TARDBP):c.*2029C>T
|
rs886045046
|
|
NM_007375.4(TARDBP):c.*2260T>G
|
rs1241104365
|
|
NM_007375.4(TARDBP):c.*2360C>T
|
rs886045049
|
|
NM_007375.4(TARDBP):c.*560A>T
|
rs1218479013
|
|
NM_007375.4(TARDBP):c.*56C>T
|
rs1440666601
|
|
NM_007375.4(TARDBP):c.*616G>C
|
rs1401947753
|
|
NM_007375.4(TARDBP):c.*697G>A
|
rs387906334
|
|
NM_007375.4(TARDBP):c.*763G>A
|
rs1643678827
|
|
NM_007375.4(TARDBP):c.*842G>A
|
rs886045039
|
|
NM_007375.4(TARDBP):c.*862G>T
|
rs886045040
|
|
NM_007375.4(TARDBP):c.-42C>T
|
rs886045033
|
|
NM_007375.4(TARDBP):c.-77G>A
|
rs886045032
|
|
NM_007375.4(TARDBP):c.1028A>G (p.Gln343Arg)
|
rs80356731
|
|
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)
|
rs80356733
|
|
NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser)
|
|
|
NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)
|
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu)
|
rs1643659556
|
|
NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg)
|
rs1553159719
|
|
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
|
|
|
NM_007375.4(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup)
|
rs1570725407
|
|
NM_007375.4(TARDBP):c.111G>A (p.Gly37=)
|
rs1553158651
|
|
NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe)
|
rs1643661597
|
|
NM_007375.4(TARDBP):c.1121dup (p.Tyr374Ter)
|
rs80356737
|
|
NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter)
|
|
|
NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter)
|
rs147795017
|
|
NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)
|
|
|
NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)
|
|
|
NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter)
|
|
|
NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)
|
rs1557660662
|
|
NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)
|
|
|
NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr)
|
|
|
NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr)
|
|
|
NM_007375.4(TARDBP):c.114G>A (p.Ala38=)
|
|
|
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)
|
rs797044594
|
|
NM_007375.4(TARDBP):c.1153T>G (p.Trp385Gly)
|
rs797044595
|
|
NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter)
|
rs2100857066
|
|
NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu)
|
|
|
NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla)
|
|
|
NM_007375.4(TARDBP):c.1173A>G (p.Ala391=)
|
|
|
NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu)
|
rs80356743
|
|
NM_007375.4(TARDBP):c.1179G>A (p.Ser393=)
|
|
|
NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp)
|
rs2100857132
|
|
NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)
|
|
|
NM_007375.4(TARDBP):c.12T>C (p.Tyr4=)
|
|
|
NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)
|
|
|
NM_007375.4(TARDBP):c.189C>T (p.Ala63=)
|
rs1399738284
|
|
NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp)
|
rs1643465434
|
|
NM_007375.4(TARDBP):c.238+16G>T
|
|
|
NM_007375.4(TARDBP):c.238+21dup
|
|
|
NM_007375.4(TARDBP):c.239-12C>T
|
|
|
NM_007375.4(TARDBP):c.239-18T>C
|
|
|
NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile)
|
rs1553159049
|
|
NM_007375.4(TARDBP):c.273A>G (p.Ser91=)
|
|
|
NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)
|
|
|
NM_007375.4(TARDBP):c.312C>T (p.Ser104=)
|
|
|
NM_007375.4(TARDBP):c.360G>A (p.Leu120=)
|
|
|
NM_007375.4(TARDBP):c.403-14A>G
|
|
|
NM_007375.4(TARDBP):c.465T>C (p.Tyr155=)
|
|
|
NM_007375.4(TARDBP):c.495A>G (p.Arg165=)
|
|
|
NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)
|
|
|
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly)
|
rs80356717
|
|
NM_007375.4(TARDBP):c.543+15G>A
|
rs749471636
|
|
NM_007375.4(TARDBP):c.543+16C>G
|
|
|
NM_007375.4(TARDBP):c.543+20G>T
|
|
|
NM_007375.4(TARDBP):c.544-15T>C
|
|
|
NM_007375.4(TARDBP):c.544-6G>C
|
rs2100852266
|
|
NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu)
|
|
|
NM_007375.4(TARDBP):c.609T>G (p.Thr203=)
|
|
|
NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln)
|
rs1219922877
|
|
NM_007375.4(TARDBP):c.636T>G (p.Ser212=)
|
|
|
NM_007375.4(TARDBP):c.639G>C (p.Gln213His)
|
|
|
NM_007375.4(TARDBP):c.642C>T (p.Tyr214=)
|
|
|
NM_007375.4(TARDBP):c.699A>G (p.Thr233=)
|
rs745343269
|
|
NM_007375.4(TARDBP):c.714+18G>A
|
|
|
NM_007375.4(TARDBP):c.714+69dup
|
rs143130606
|
|
NM_007375.4(TARDBP):c.715-11A>G
|
|
|
NM_007375.4(TARDBP):c.715-18A>G
|
|
|
NM_007375.4(TARDBP):c.717T>C (p.Ile239=)
|
rs1643650855
|
|
NM_007375.4(TARDBP):c.774C>G (p.Ser258=)
|
|
|
NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser)
|
|
|
NM_007375.4(TARDBP):c.780C>T (p.Ala260=)
|
|
|
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu)
|
rs267607102
|
|
NM_007375.4(TARDBP):c.792C>T (p.His264=)
|
|
|
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala)
|
rs121908395
|
|
NM_007375.4(TARDBP):c.881G>C (p.Gly294Ala)
|
rs80356721
|
|
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)
|
rs80356723
|
|
NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg)
|
rs80356723
|
|
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)
|
rs4884357
|
|
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)
|
rs1643653768
|
|
NM_007375.4(TARDBP):c.909A>G (p.Gln303=)
|
|
|
NM_007375.4(TARDBP):c.930G>A (p.Gly310=)
|
|
|
NM_007375.4(TARDBP):c.939T>C (p.Phe313=)
|
|
|
NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala)
|
|
|
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)
|
rs80356726
|
|
NM_007375.4(TARDBP):c.944C>T (p.Ala315Val)
|
|
|
NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu)
|
|
|
NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile)
|
|
|
NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp)
|
rs1304706298
|
|
NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr)
|
|
|
NM_007375.4(TARDBP):c.990A>G (p.Leu330=)
|
|
|
NM_007375.4(TARDBP):c.991C>A (p.Gln331Lys)
|
rs80356727
|
|
NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn)
|
rs80356728
|
|
NM_012465.4(TLL2):c.112G>C (p.Glu38Gln)
|
rs1292893658
|
|
NM_012465.4(TLL2):c.1609C>T (p.His537Tyr)
|
rs1589410819
|
|
NM_013254.3(TBK1):c.1644-5_1644-2del
|
rs755646937
|
|
NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)
|
|
|
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)
|
|
|
NM_013254.4(TBK1):c.1051G>A (p.Glu351Lys)
|
|
|
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)
|
|
|
NM_013254.4(TBK1):c.1089T>C (p.Pro363=)
|
|
|
NM_013254.4(TBK1):c.110T>G (p.Ile37Ser)
|
rs2136056628
|
|
NM_013254.4(TBK1):c.1148G>T (p.Ser383Ile)
|
rs1592369002
|
|
NM_013254.4(TBK1):c.1151G>A (p.Arg384Gln)
|
|
|
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)
|
rs765106259
|
|
NM_013254.4(TBK1):c.1180T>G (p.Tyr394Asp)
|
rs1267274595
|
|
NM_013254.4(TBK1):c.1189+1G>A
|
rs2136078402
|
|
NM_013254.4(TBK1):c.1189+1G>T
|
rs2136078402
|
|
NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)
|
|
|
NM_013254.4(TBK1):c.1206A>G (p.Val402=)
|
|
|
NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)
|
|
|
NM_013254.4(TBK1):c.1219G>C (p.Asp407His)
|
|
|
NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)
|
|
|
NM_013254.4(TBK1):c.1234del (p.Ala412fs)
|
|
|
NM_013254.4(TBK1):c.1248+18T>A
|
|
|
NM_013254.4(TBK1):c.1249-5A>C
|
|
|
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)
|
|
|
NM_013254.4(TBK1):c.1260G>C (p.Gly420=)
|
|
|
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile)
|
rs201332131
|
|
NM_013254.4(TBK1):c.1272del (p.Cys423_Tyr424insTer)
|
rs2040816609
|
|
NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)
|
|
|
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)
|
|
|
NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)
|
|
|
NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)
|
|
|
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter)
|
rs769588220
|
|
NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)
|
|
|
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln)
|
rs2136079527
|
|
NM_013254.4(TBK1):c.1323G>A (p.Lys441=)
|
|
|
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter)
|
rs2136079548
|
|
NM_013254.4(TBK1):c.1338G>T (p.Leu446=)
|
|
|
NM_013254.4(TBK1):c.1340+1G>A
|
rs767898276
|
|
NM_013254.4(TBK1):c.1340+3A>G
|
|
|
NM_013254.4(TBK1):c.1341-10_1341-9del
|
|
|
NM_013254.4(TBK1):c.1341-1G>C
|
|
|
NM_013254.4(TBK1):c.1341-3del
|
rs201728462
|
|
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs)
|
rs876657404
|
|
NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu)
|
rs1565821771
|
|
NM_013254.4(TBK1):c.1364A>G (p.Asn455Ser)
|
|
|
NM_013254.4(TBK1):c.1364A>T (p.Asn455Ile)
|
|
|
NM_013254.4(TBK1):c.1372_1373del (p.Val458fs)
|
|
|
NM_013254.4(TBK1):c.1382dup (p.Thr462fs)
|
rs1178717934
|
|
NM_013254.4(TBK1):c.1385_1388del (p.Thr462fs)
|
|
|
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs)
|
rs1555204731
|
|
NM_013254.4(TBK1):c.1412G>A (p.Cys471Tyr)
|
|
|
NM_013254.4(TBK1):c.1412G>C (p.Cys471Ser)
|
rs369875862
|
|
NM_013254.4(TBK1):c.142C>G (p.Pro48Ala)
|
rs2136056652
|
|
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs)
|
rs876657405
|
|
NM_013254.4(TBK1):c.1442+17C>T
|
|
|
NM_013254.4(TBK1):c.1442+18T>G
|
|
|
NM_013254.4(TBK1):c.1443-15T>C
|
|
|
NM_013254.4(TBK1):c.1443-1G>T
|
|
|
NM_013254.4(TBK1):c.1443-6A>G
|
rs1033675488
|
|
NM_013254.4(TBK1):c.1466A>G (p.Asn489Ser)
|
rs2136082596
|
|
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)
|
|
|
NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)
|
|
|
NM_013254.4(TBK1):c.149A>C (p.Asp50Ala)
|
rs1010930015
|
|
NM_013254.4(TBK1):c.14C>A (p.Ser5Tyr)
|
|
|
NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)
|
|
|
NM_013254.4(TBK1):c.1539A>C (p.Gly513=)
|
|
|
NM_013254.4(TBK1):c.153T>C (p.Val51=)
|
|
|
NM_013254.4(TBK1):c.1551C>T (p.Thr517=)
|
rs1460627390
|
|
NM_013254.4(TBK1):c.1566C>G (p.Ile522Met)
|
rs375618295
|
|
NM_013254.4(TBK1):c.1566C>T (p.Ile522=)
|
rs375618295
|
|
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys)
|
rs922333386
|
|
NM_013254.4(TBK1):c.1588G>A (p.Gly530Arg)
|
rs2040916858
|
|
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro)
|
rs1192216525
|
|
NM_013254.4(TBK1):c.1602C>T (p.Asp534=)
|
|
|
NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)
|
|
|
NM_013254.4(TBK1):c.1622G>A (p.Gly541Asp)
|
rs2040917422
|
|
NM_013254.4(TBK1):c.1631C>T (p.Pro544Leu)
|
|
|
NM_013254.4(TBK1):c.1638_1641del (p.Asp546fs)
|
|
|
NM_013254.4(TBK1):c.1643+19C>T
|
|
|
NM_013254.4(TBK1):c.1643+20G>A
|
|
|
NM_013254.4(TBK1):c.1644-2A>T
|
|
|
NM_013254.4(TBK1):c.1656A>G (p.Leu552=)
|
|
|
NM_013254.4(TBK1):c.1675A>G (p.Met559Val)
|
|
|
NM_013254.4(TBK1):c.1691A>G (p.Tyr564Cys)
|
rs776059942
|
|
NM_013254.4(TBK1):c.1717C>A (p.Arg573Ser)
|
|
|
NM_013254.4(TBK1):c.1720+16T>A
|
|
|
NM_013254.4(TBK1):c.1720+2dup
|
rs2136087264
|
|
NM_013254.4(TBK1):c.1727C>G (p.Ala576Gly)
|
rs767446906
|
|
NM_013254.4(TBK1):c.172G>A (p.Val58Met)
|
rs1042991833
|
|
NM_013254.4(TBK1):c.1739A>G (p.Glu580Gly)
|
rs2040925135
|
|
NM_013254.4(TBK1):c.1740del (p.Glu580fs)
|
rs2136087722
|
|
NM_013254.4(TBK1):c.1760+4_1760+7del
|
rs753802322
|
|
NM_013254.4(TBK1):c.1761-3C>G
|
|
|
NM_013254.4(TBK1):c.1770G>A (p.Leu590=)
|
rs753990284
|
|
NM_013254.4(TBK1):c.1770_1771del (p.Tyr591fs)
|
rs2040932099
|
|
NM_013254.4(TBK1):c.1785A>G (p.Thr595=)
|
|
|
NM_013254.4(TBK1):c.1796C>T (p.Thr599Met)
|
|
|
NM_013254.4(TBK1):c.1803T>G (p.Phe601Leu)
|
rs1565824642
|
|
NM_013254.4(TBK1):c.1816G>A (p.Val606Ile)
|
rs2136088188
|
|
NM_013254.4(TBK1):c.1846_1849del (p.Ser616fs)
|
rs2136088227
|
|
NM_013254.4(TBK1):c.1852G>A (p.Glu618Lys)
|
|
|
NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)
|
|
|
NM_013254.4(TBK1):c.1862+13_1862+15del
|
|
|
NM_013254.4(TBK1):c.1862+7A>C
|
rs2040933572
|
|
NM_013254.4(TBK1):c.1863-1G>A
|
|
|
NM_013254.4(TBK1):c.1876C>A (p.Leu626Ile)
|
rs2136088345
|
|
NM_013254.4(TBK1):c.1879A>G (p.Arg627Gly)
|
|
|
NM_013254.4(TBK1):c.1887G>C (p.Gln629His)
|
rs752047246
|
|
NM_013254.4(TBK1):c.1889TAT[1] (p.Leu631del)
|
rs2136088359
|
|
NM_013254.4(TBK1):c.1895C>T (p.Ser632Leu)
|
|
|
NM_013254.4(TBK1):c.1917T>C (p.Asp639=)
|
|
|
NM_013254.4(TBK1):c.1917del (p.Asp639fs)
|
|
|
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)
|
rs1402092579
|
|
NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter)
|
rs2136088420
|
|
NM_013254.4(TBK1):c.1952C>A (p.Thr651Asn)
|
rs1592376939
|
|
NM_013254.4(TBK1):c.1954_1956del (p.Asn652del)
|
rs141727722
|
|
NM_013254.4(TBK1):c.1956del (p.Asn652fs)
|
|
|
NM_013254.4(TBK1):c.1959+13G>A
|
|
|
NM_013254.4(TBK1):c.1959+17A>C
|
|
|
NM_013254.4(TBK1):c.1960-10G>T
|
rs371275822
|
|
NM_013254.4(TBK1):c.1960-20_1960-19insC
|
|
|
NM_013254.4(TBK1):c.1960-2A>T
|
|
|
NM_013254.4(TBK1):c.1960-7G>T
|
rs768189768
|
|
NM_013254.4(TBK1):c.1972_1973del (p.Leu658fs)
|
rs2136088934
|
|
NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter)
|
rs2136088954
|
|
NM_013254.4(TBK1):c.198T>C (p.Asn66=)
|
|
|
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)
|
|
|
NM_013254.4(TBK1):c.201T>C (p.Ile67=)
|
|
|
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly)
|
rs2136089009
|
|
NM_013254.4(TBK1):c.2043C>T (p.Asn681=)
|
rs759638468
|
|
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser)
|
rs1306279522
|
|
NM_013254.4(TBK1):c.204C>G (p.Val68=)
|
|
|
NM_013254.4(TBK1):c.2066+11C>G
|
|
|
NM_013254.4(TBK1):c.2067-7T>A
|
rs1187318445
|
|
NM_013254.4(TBK1):c.2067-7_2067-3del
|
|
|
NM_013254.4(TBK1):c.2069T>G (p.Met690Arg)
|
|
|
NM_013254.4(TBK1):c.2075A>G (p.Lys692Arg)
|
|
|
NM_013254.4(TBK1):c.2078T>C (p.Leu693Ser)
|
rs2136089194
|
|
NM_013254.4(TBK1):c.2080_2082del (p.Lys694del)
|
rs2040947403
|
|
NM_013254.4(TBK1):c.2095G>A (p.Gly699Arg)
|
|
|
NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)
|
|
|
NM_013254.4(TBK1):c.2129T>A (p.Ile710Asn)
|
|
|
NM_013254.4(TBK1):c.2138+12A>C
|
|
|
NM_013254.4(TBK1):c.2138+2T>C
|
rs876657406
|
|
NM_013254.4(TBK1):c.2139-5_2139-3dup
|
|
|
NM_013254.4(TBK1):c.2139-7G>A
|
rs534404556
|
|
NM_013254.4(TBK1):c.2139-9G>A
|
|
|
NM_013254.4(TBK1):c.2139G>T (p.Arg713Ser)
|
rs2136092217
|
|
NM_013254.4(TBK1):c.2155A>G (p.Met719Val)
|
|
|
NM_013254.4(TBK1):c.2165G>A (p.Gly722Asp)
|
|
|
NM_013254.4(TBK1):c.2167C>G (p.Leu723Val)
|
rs2136092255
|
|
NM_013254.4(TBK1):c.2171G>A (p.Arg724His)
|
|
|
NM_013254.4(TBK1):c.2174A>G (p.Asn725Ser)
|
rs2136092274
|
|
NM_013254.4(TBK1):c.2176G>A (p.Val726Ile)
|
|
|
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)
|
|
|
NM_013254.4(TBK1):c.2185C>T (p.Leu729Phe)
|
|
|
NM_013254.4(TBK1):c.228+19A>G
|
|
|
NM_013254.4(TBK1):c.228+4A>C
|
rs2136056750
|
|
NM_013254.4(TBK1):c.229-14_229-13insC
|
|
|
NM_013254.4(TBK1):c.229-4dup
|
rs57810028
|
|
NM_013254.4(TBK1):c.229-5_229-4dup
|
|
|
NM_013254.4(TBK1):c.229-9_229-8insG
|
rs2136060930
|
|
NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)
|
|
|
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)
|
rs748007618
|
|
NM_013254.4(TBK1):c.236C>G (p.Thr79Arg)
|
|
|
NM_013254.4(TBK1):c.236C>T (p.Thr79Ile)
|
|
|
NM_013254.4(TBK1):c.253A>G (p.Ile85Val)
|
|
|
NM_013254.4(TBK1):c.270A>C (p.Pro90=)
|
|
|
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)
|
|
|
NM_013254.4(TBK1):c.289G>A (p.Val97Ile)
|
|
|
NM_013254.4(TBK1):c.292T>A (p.Leu98Ile)
|
rs767134050
|
|
NM_013254.4(TBK1):c.2T>C (p.Met1Thr)
|
|
|
NM_013254.4(TBK1):c.300_309del (p.Ser102fs)
|
|
|
NM_013254.4(TBK1):c.312C>T (p.Ala104=)
|
|
|
NM_013254.4(TBK1):c.330T>C (p.Ser110=)
|
rs1592356440
|
|
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)
|
rs757203783
|
|
NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)
|
|
|
NM_013254.4(TBK1):c.352G>A (p.Asp118Asn)
|
|
|
NM_013254.4(TBK1):c.353A>T (p.Asp118Val)
|
|
|
NM_013254.4(TBK1):c.358+13A>G
|
|
|
NM_013254.4(TBK1):c.358+17A>G
|
|
|
NM_013254.4(TBK1):c.358+4T>C
|
|
|
NM_013254.4(TBK1):c.358+5G>A
|
rs2136061124
|
|
NM_013254.4(TBK1):c.358+9_358+12del
|
rs769662604
|
|
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)
|
|
|
NM_013254.4(TBK1):c.401G>A (p.Arg134His)
|
|
|
NM_013254.4(TBK1):c.402T>C (p.Arg134=)
|
|
|
NM_013254.4(TBK1):c.41T>C (p.Ile14Thr)
|
rs2136052738
|
|
NM_013254.4(TBK1):c.422T>C (p.Ile141Thr)
|
|
|
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)
|
rs1027249002
|
|
NM_013254.4(TBK1):c.428G>A (p.Arg143His)
|
|
|
NM_013254.4(TBK1):c.430G>A (p.Val144Ile)
|
|
|
NM_013254.4(TBK1):c.440A>G (p.Glu147Gly)
|
|
|
NM_013254.4(TBK1):c.452C>G (p.Ser151Cys)
|
rs55824172
|
|
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)
|
rs55824172
|
|
NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)
|
|
|
NM_013254.4(TBK1):c.511G>A (p.Val171Ile)
|
rs2136063606
|
|
NM_013254.4(TBK1):c.519del (p.Tyr174fs)
|
|
|
NM_013254.4(TBK1):c.527C>T (p.Thr176Ile)
|
rs2136063629
|
|
NM_013254.4(TBK1):c.533A>G (p.Glu178Gly)
|
|
|
NM_013254.4(TBK1):c.535T>C (p.Tyr179His)
|
rs2136063631
|
|
NM_013254.4(TBK1):c.541-18T>C
|
|
|
NM_013254.4(TBK1):c.541-3T>G
|
rs747738866
|
|
NM_013254.4(TBK1):c.541-9del
|
rs369498196
|
|
NM_013254.4(TBK1):c.541-9dup
|
rs369498196
|
|
NM_013254.4(TBK1):c.550A>G (p.Met184Val)
|
|
|
NM_013254.4(TBK1):c.563C>T (p.Ala188Val)
|
|
|
NM_013254.4(TBK1):c.574A>G (p.Lys192Glu)
|
rs781700275
|
|
NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)
|
|
|
NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)
|
|
|
NM_013254.4(TBK1):c.629C>T (p.Thr210Ile)
|
rs2136069875
|
|
NM_013254.4(TBK1):c.639T>C (p.His213=)
|
|
|
NM_013254.4(TBK1):c.641C>A (p.Ala214Glu)
|
|
|
NM_013254.4(TBK1):c.649G>A (p.Gly217Arg)
|
|
|
NM_013254.4(TBK1):c.64A>G (p.Asn22Asp)
|
rs576726084
|
|
NM_013254.4(TBK1):c.701+16A>T
|
rs2136069949
|
|
NM_013254.4(TBK1):c.701+1G>A
|
rs1592362719
|
|
NM_013254.4(TBK1):c.701+2T>G
|
|
|
NM_013254.4(TBK1):c.722del (p.Lys241fs)
|
|
|
NM_013254.4(TBK1):c.729T>G (p.Ser243=)
|
|
|
NM_013254.4(TBK1):c.72dup (p.Arg25fs)
|
rs1279619378
|
|
NM_013254.4(TBK1):c.731G>T (p.Gly244Val)
|
|
|
NM_013254.4(TBK1):c.738_739del (p.Ser247fs)
|
|
|
NM_013254.4(TBK1):c.744A>C (p.Gly248=)
|
|
|
NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)
|
|
|
NM_013254.4(TBK1):c.758A>C (p.Glu253Ala)
|
|
|
NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)
|
|
|
NM_013254.4(TBK1):c.770T>C (p.Ile257Thr)
|
rs1555203984
|
|
NM_013254.4(TBK1):c.780T>C (p.Ser260=)
|
|
|
NM_013254.4(TBK1):c.794T>C (p.Val265Ala)
|
|
|
NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)
|
|
|
NM_013254.4(TBK1):c.805C>G (p.Leu269Val)
|
|
|
NM_013254.4(TBK1):c.812+18A>G
|
|
|
NM_013254.4(TBK1):c.813-3T>C
|
rs2040770701
|
|
NM_013254.4(TBK1):c.813-7A>C
|
rs376075252
|
|
NM_013254.4(TBK1):c.816T>G (p.Gly272=)
|
|
|
NM_013254.4(TBK1):c.828A>G (p.Leu276=)
|
|
|
NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe)
|
rs2136052800
|
|
NM_013254.4(TBK1):c.86dup (p.Lys30fs)
|
rs1592350883
|
|
NM_013254.4(TBK1):c.87+17C>T
|
|
|
NM_013254.4(TBK1):c.87G>A (p.Lys29=)
|
rs1592350887
|
|
NM_013254.4(TBK1):c.88-4A>G
|
|
|
NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)
|
|
|
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)
|
|
|
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter)
|
rs1284582102
|
|
NM_013254.4(TBK1):c.935A>G (p.His312Arg)
|
|
|
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)
|
|
|
NM_013254.4(TBK1):c.94G>A (p.Gly32Ser)
|
rs1943095779
|
|
NM_013254.4(TBK1):c.958del (p.Thr320fs)
|
rs755950225
|
|
NM_013254.4(TBK1):c.992+13A>G
|
|
|
NM_013254.4(TBK1):c.992+21_992+23del
|
rs138753162
|
|
NM_013437.5:c.-102CGG[(90_?)]
|
|
|
NM_013444.3(UBQLN2):c.-277A>C
|
rs1057515973
|
|
NM_013444.4(UBQLN2):c.*41G>T
|
rs990201540
|
|
NM_013444.4(UBQLN2):c.*655A>C
|
rs2068642753
|
|
NM_013444.4(UBQLN2):c.*881A>G
|
rs1057515979
|
|
NM_013444.4(UBQLN2):c.*905G>A
|
rs2068644137
|
|
NM_013444.4(UBQLN2):c.-159A>G
|
rs2068626818
|
|
NM_013444.4(UBQLN2):c.-54T>G
|
rs2068627546
|
|
NM_013444.4(UBQLN2):c.1001C>T (p.Thr334Met)
|
|
|
NM_013444.4(UBQLN2):c.1003A>T (p.Thr335Ser)
|
|
|
NM_013444.4(UBQLN2):c.1011C>T (p.Ser337=)
|
rs972652102
|
|
NM_013444.4(UBQLN2):c.1013C>T (p.Thr338Ile)
|
rs917131397
|
|
NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp)
|
|
|
NM_013444.4(UBQLN2):c.1040G>A (p.Ser347Asn)
|
|
|
NM_013444.4(UBQLN2):c.1049C>T (p.Thr350Ile)
|
|
|
NM_013444.4(UBQLN2):c.1053G>A (p.Gly351=)
|
|
|
NM_013444.4(UBQLN2):c.1060G>A (p.Val354Ile)
|
rs748840115
|
|
NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu)
|
|
|
NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=)
|
|
|
NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr)
|
|
|
NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn)
|
|
|
NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=)
|
|
|
NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His)
|
|
|
NM_013444.4(UBQLN2):c.1279C>G (p.Arg427Gly)
|
rs2068634857
|
|
NM_013444.4(UBQLN2):c.1318C>T (p.Pro440Ser)
|
|
|
NM_013444.4(UBQLN2):c.138C>T (p.Phe46=)
|
|
|
NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile)
|
|
|
NM_013444.4(UBQLN2):c.1407A>T (p.Ala469=)
|
|
|
NM_013444.4(UBQLN2):c.1416G>C (p.Leu472=)
|
|
|
NM_013444.4(UBQLN2):c.1422G>A (p.Pro474=)
|
|
|
NM_013444.4(UBQLN2):c.1464T>C (p.Ala488=)
|
|
|
NM_013444.4(UBQLN2):c.1474G>T (p.Val492Leu)
|
rs756653207
|
|
NM_013444.4(UBQLN2):c.1481C>T (p.Pro494Leu)
|
|
|
NM_013444.4(UBQLN2):c.1486A>G (p.Thr496Ala)
|
rs2146636525
|
|
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser)
|
rs387906710
|
|
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His)
|
rs387906709
|
|
NM_013444.4(UBQLN2):c.1490C>G (p.Pro497Arg)
|
rs387906709
|
|
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu)
|
rs387906709
|
|
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])
|
|
|
NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met)
|
|
|
NM_013444.4(UBQLN2):c.150G>A (p.Glu50=)
|
|
|
NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr)
|
rs387906711
|
|
NM_013444.4(UBQLN2):c.1522A>G (p.Thr508Ala)
|
|
|
NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn)
|
|
|
NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val)
|
|
|
NM_013444.4(UBQLN2):c.1569C>T (p.Ala523=)
|
|
|
NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala)
|
|
|
NM_013444.4(UBQLN2):c.1574C>T (p.Pro525Leu)
|
rs1602589802
|
|
NM_013444.4(UBQLN2):c.1579T>C (p.Ser527Pro)
|
|
|
NM_013444.4(UBQLN2):c.1584C>T (p.Thr528=)
|
|
|
NM_013444.4(UBQLN2):c.159G>T (p.Ser53=)
|
|
|
NM_013444.4(UBQLN2):c.1601C>T (p.Thr534Met)
|
|
|
NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser)
|
|
|
NM_013444.4(UBQLN2):c.165G>A (p.Gln55=)
|
|
|
NM_013444.4(UBQLN2):c.1698C>T (p.Ala566=)
|
|
|
NM_013444.4(UBQLN2):c.1707A>T (p.Gly569=)
|
|
|
NM_013444.4(UBQLN2):c.1719A>G (p.Pro573=)
|
|
|
NM_013444.4(UBQLN2):c.1722G>T (p.Gln574His)
|
|
|
NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu)
|
|
|
NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His)
|
|
|
NM_013444.4(UBQLN2):c.1779G>T (p.Gly593=)
|
|
|
NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp)
|
|
|
NM_013444.4(UBQLN2):c.180G>T (p.Ala60=)
|
|
|
NM_013444.4(UBQLN2):c.1852C>T (p.Leu618=)
|
rs1602589986
|
|
NM_013444.4(UBQLN2):c.1858G>C (p.Gly620Arg)
|
rs2068639281
|
|
NM_013444.4(UBQLN2):c.186G>A (p.Ser62=)
|
|
|
NM_013444.4(UBQLN2):c.1872G>A (p.Ser624=)
|
|
|
NM_013444.4(UBQLN2):c.195C>T (p.Phe65=)
|
|
|
NM_013444.4(UBQLN2):c.278A>G (p.His93Arg)
|
rs2146635699
|
|
NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met)
|
|
|
NM_013444.4(UBQLN2):c.320G>A (p.Arg107Gln)
|
rs1602589042
|
|
NM_013444.4(UBQLN2):c.327G>C (p.Gln109His)
|
|
|
NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala)
|
|
|
NM_013444.4(UBQLN2):c.364A>G (p.Asn122Asp)
|
|
|
NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser)
|
|
|
NM_013444.4(UBQLN2):c.399C>T (p.Ser133=)
|
|
|
NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile)
|
|
|
NM_013444.4(UBQLN2):c.405T>C (p.Pro135=)
|
|
|
NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu)
|
|
|
NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile)
|
|
|
NM_013444.4(UBQLN2):c.462T>C (p.Leu154=)
|
|
|
NM_013444.4(UBQLN2):c.464G>A (p.Ser155Asn)
|
|
|
NM_013444.4(UBQLN2):c.494C>T (p.Ser165Phe)
|
|
|
NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser)
|
|
|
NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser)
|
|
|
NM_013444.4(UBQLN2):c.56C>T (p.Ala19Val)
|
rs2146635566
|
|
NM_013444.4(UBQLN2):c.645T>G (p.Ile215Met)
|
|
|
NM_013444.4(UBQLN2):c.648G>T (p.Gln216His)
|
|
|
NM_013444.4(UBQLN2):c.69G>A (p.Ser23=)
|
|
|
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr)
|
rs1360902821
|
|
NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser)
|
|
|
NM_013444.4(UBQLN2):c.779G>A (p.Ser260Asn)
|
|
|
NM_013444.4(UBQLN2):c.823A>C (p.Ile275Leu)
|
|
|
NM_013444.4(UBQLN2):c.845C>T (p.Ala282Val)
|
|
|
NM_013444.4(UBQLN2):c.847G>A (p.Ala283Thr)
|
rs749463696
|
|
NM_013444.4(UBQLN2):c.857A>G (p.Gln286Arg)
|
rs2146636094
|
|
NM_013444.4(UBQLN2):c.900C>T (p.Ser300=)
|
rs1451386394
|
|
NM_013444.4(UBQLN2):c.915G>C (p.Thr305=)
|
rs1474772730
|
|
NM_013444.4(UBQLN2):c.938G>A (p.Arg313His)
|
rs2068632850
|
|
NM_013444.4(UBQLN2):c.968C>T (p.Pro323Leu)
|
rs1555977386
|
|
NM_013444.4(UBQLN2):c.969G>A (p.Pro323=)
|
|
|
NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile)
|
|
|
NM_014043.4(CHMP2B):c.*1080C>T
|
rs963258376
|
|
NM_014043.4(CHMP2B):c.*121G>A
|
rs1706359144
|
|
NM_014043.4(CHMP2B):c.*1376G>C
|
rs191203869
|
|
NM_014043.4(CHMP2B):c.*1414T>C
|
rs1575973316
|
|
NM_014043.4(CHMP2B):c.*602T>G
|
rs886058908
|
|
NM_014043.4(CHMP2B):c.*626A>G
|
rs971797498
|
|
NM_014043.4(CHMP2B):c.*968G>A
|
rs886058910
|
|
NM_014043.4(CHMP2B):c.-38C>T
|
rs886058905
|
|
NM_014043.4(CHMP2B):c.114A>G (p.Gln38=)
|
|
|
NM_014043.4(CHMP2B):c.127-7C>T
|
|
|
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
|
|
|
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
|
|
|
NM_014043.4(CHMP2B):c.180T>G (p.Val60=)
|
|
|
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=)
|
rs1706200423
|
|
NM_014043.4(CHMP2B):c.216G>A (p.Lys72=)
|
|
|
NM_014043.4(CHMP2B):c.234A>C (p.Val78=)
|
rs765641845
|
|
NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)
|
|
|
NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)
|
|
|
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu)
|
rs1706202120
|
|
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr)
|
rs2106908498
|
|
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)
|
rs281864934
|
|
NM_014043.4(CHMP2B):c.315A>C (p.Thr105=)
|
rs778796624
|
|
NM_014043.4(CHMP2B):c.321+10A>C
|
|
|
NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)
|
|
|
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys)
|
rs747904374
|
|
NM_014043.4(CHMP2B):c.34+14C>G
|
|
|
NM_014043.4(CHMP2B):c.34+6T>C
|
|
|
NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)
|
|
|
NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)
|
|
|
NM_014043.4(CHMP2B):c.390G>A (p.Lys130=)
|
|
|
NM_014043.4(CHMP2B):c.408A>G (p.Glu136=)
|
|
|
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val)
|
rs1706285788
|
|
NM_014043.4(CHMP2B):c.424+19_424+21del
|
rs2106913116
|
|
NM_014043.4(CHMP2B):c.424+20A>C
|
|
|
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp)
|
rs2106916834
|
|
NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)
|
|
|
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)
|
rs63750653
|
|
NM_014043.4(CHMP2B):c.453C>T (p.Asp151=)
|
rs767746876
|
|
NM_014043.4(CHMP2B):c.474A>G (p.Glu158=)
|
rs1285764025
|
|
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)
|
rs63750355
|
|
NM_014043.4(CHMP2B):c.531+14C>A
|
|
|
NM_014043.4(CHMP2B):c.531+8C>T
|
rs374796686
|
|
NM_014043.4(CHMP2B):c.532-14A>G
|
|
|
NM_014043.4(CHMP2B):c.532-1G>A
|
rs63750652
|
|
NM_014043.4(CHMP2B):c.532-1G>C
|
rs63750652
|
|
NM_014043.4(CHMP2B):c.535del (p.Ala179fs)
|
|
|
NM_014043.4(CHMP2B):c.548C>G (p.Ser183Ter)
|
|
|
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp)
|
rs2106917283
|
|
NM_014043.4(CHMP2B):c.579T>A (p.Thr193=)
|
|
|
NM_014043.4(CHMP2B):c.589A>G (p.Thr197Ala)
|
|
|
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln)
|
rs750217435
|
|
NM_014043.4(CHMP2B):c.614G>T (p.Arg205Leu)
|
|
|
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)
|
rs63751126
|
|
NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)
|
|
|
NM_014043.4(CHMP2B):c.67G>A (p.Gly23Ser)
|
|
|
NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)
|
|
|
NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)
|
|
|
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser)
|
rs775142652
|
|
NM_014365.2(HSPB8):c.-489G>A
|
rs886049023
|
|
NM_014365.2(HSPB8):c.-522C>G
|
rs981936850
|
|
NM_014365.3(HSPB8):c.*330A>T
|
rs1954730443
|
|
NM_014365.3(HSPB8):c.*504T>C
|
rs886049027
|
|
NM_014365.3(HSPB8):c.*616C>G
|
rs6413487
|
|
NM_014365.3(HSPB8):c.*616C>T
|
rs6413487
|
|
NM_014365.3(HSPB8):c.*860T>C
|
rs1223485106
|
|
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg)
|
rs35909818
|
|
NM_014365.3(HSPB8):c.403G>C (p.Val135Leu)
|
rs917644809
|
|
NM_014365.3(HSPB8):c.413A>C (p.Asn138Thr)
|
rs1565929080
|
|
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu)
|
rs104894351
|
|
NM_014365.3(HSPB8):c.423G>C (p.Lys141Asn)
|
rs104894345
|
|
NM_014365.3(HSPB8):c.432-10T>A
|
rs368810689
|
|
NM_014365.3(HSPB8):c.562del (p.Gln188fs)
|
rs1954727678
|
|
NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter)
|
rs774853645
|
|
NM_014845.6(FIG4):c.1049C>T (p.Ala350Val)
|
|
|
NM_014845.6(FIG4):c.1150del (p.Arg384fs)
|
rs1583695322
|
|
NM_014845.6(FIG4):c.1162A>G (p.Arg388Gly)
|
|
|
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)
|
rs879253926
|
|
NM_014845.6(FIG4):c.1272-10C>G
|
rs201293291
|
|
NM_014845.6(FIG4):c.1388+5G>T
|
rs200730266
|
|
NM_014845.6(FIG4):c.143A>G (p.Asp48Gly)
|
|
|
NM_014845.6(FIG4):c.1550A>G (p.Lys517Arg)
|
rs1189038219
|
|
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr)
|
rs121908290
|
|
NM_014845.6(FIG4):c.1619C>T (p.Thr540Ile)
|
rs1057519386
|
|
NM_014845.6(FIG4):c.1889+9C>T
|
rs1777643262
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.6(FIG4):c.2223G>T (p.Thr741=)
|
rs181012139
|
|
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg)
|
rs886060982
|
|
NM_014845.6(FIG4):c.2376+2T>G
|
rs756308787
|
|
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser)
|
rs886060984
|
|
NM_014845.6(FIG4):c.2509C>T (p.Gln837Ter)
|
|
|
NM_014845.6(FIG4):c.2546+5G>C
|
rs1060501401
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.6(FIG4):c.2568G>T (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.311G>A (p.Gly104Asp)
|
rs397509395
|
|
NM_014845.6(FIG4):c.397A>G (p.Ile133Val)
|
rs777011122
|
|
NM_014845.6(FIG4):c.446+32dup
|
rs11459279
|
|
NM_014845.6(FIG4):c.447-16delinsTT
|
rs1776038653
|
|
NM_014845.6(FIG4):c.447-17dup
|
rs764540259
|
|
NM_014845.6(FIG4):c.447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
|
NM_014845.6(FIG4):c.647-2_647-1insG
|
|
|
NM_014845.6(FIG4):c.67-1G>T
|
|
|
NM_014845.6(FIG4):c.670C>T (p.Pro224Ser)
|
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014845.6(FIG4):c.837T>G (p.Phe279Leu)
|
|
|
NM_015046.5(SETX):c.-190G>A
|
rs1055615359
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
NM_015046.7(SETX):c.*1050A>C
|
rs1842477894
|
|
NM_015046.7(SETX):c.*1148T>C
|
rs138991890
|
|
NM_015046.7(SETX):c.*1148T>G
|
rs138991890
|
|
NM_015046.7(SETX):c.*1233A>G
|
rs1388263414
|
|
NM_015046.7(SETX):c.*1368G>A
|
rs7025
|
|
NM_015046.7(SETX):c.*1370G>C
|
rs116822064
|
|
NM_015046.7(SETX):c.*1433A>T
|
rs886063550
|
|
NM_015046.7(SETX):c.*1487A>G
|
rs1842460355
|
|
NM_015046.7(SETX):c.*1494A>G
|
rs1327797847
|
|
NM_015046.7(SETX):c.*1713C>T
|
rs771853459
|
|
NM_015046.7(SETX):c.*1987T>C
|
rs1589593075
|
|
NM_015046.7(SETX):c.*2002A>G
|
rs886063547
|
|
NM_015046.7(SETX):c.*2015C>T
|
rs552487555
|
|
NM_015046.7(SETX):c.*2136A>T
|
rs886063545
|
|
NM_015046.7(SETX):c.*2190A>G
|
rs531640605
|
|
NM_015046.7(SETX):c.*2639T>C
|
rs886063543
|
|
NM_015046.7(SETX):c.*266A>G
|
rs575959163
|
|
NM_015046.7(SETX):c.*2753G>A
|
rs886063542
|
|
NM_015046.7(SETX):c.*431_*432del
|
rs112251805
|
|
NM_015046.7(SETX):c.*608G>C
|
rs528924481
|
|
NM_015046.7(SETX):c.-154G>C
|
rs886063561
|
|
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
|
|
|
NM_015046.7(SETX):c.1010+14A>C
|
|
|
NM_015046.7(SETX):c.1010+4_1010+7dup
|
rs1222378139
|
|
NM_015046.7(SETX):c.1011-2A>G
|
|
|
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
|
|
|
NM_015046.7(SETX):c.1026G>A (p.Pro342=)
|
|
|
NM_015046.7(SETX):c.1034A>T (p.Tyr345Phe)
|
|
|
NM_015046.7(SETX):c.1099-13del
|
|
|
NM_015046.7(SETX):c.1099-17C>T
|
|
|
NM_015046.7(SETX):c.1110G>A (p.Trp370Ter)
|
rs2131463657
|
|
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
|
|
|
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys)
|
rs1554821963
|
|
NM_015046.7(SETX):c.1165_1167del (p.Leu389del)
|
rs2131463325
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.1167A>C (p.Leu389Phe)
|
rs2131463306
|
|
NM_015046.7(SETX):c.1173T>C (p.Ser391=)
|
|
|
NM_015046.7(SETX):c.1260T>C (p.Asp420=)
|
rs2131462924
|
|
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
|
rs747053403
|
|
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)
|
rs774123592
|
|
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
|
|
|
NM_015046.7(SETX):c.1338A>G (p.Gln446=)
|
|
|
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala)
|
rs370363342
|
|
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg)
|
rs886063559
|
|
NM_015046.7(SETX):c.135T>A (p.Ala45=)
|
|
|
NM_015046.7(SETX):c.1391_1392inv (p.Ser464Leu)
|
|
|
NM_015046.7(SETX):c.1392A>T (p.Ser464=)
|
|
|
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser)
|
rs2131461800
|
|
NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)
|
|
|
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr)
|
rs754200234
|
|
NM_015046.7(SETX):c.1423T>C (p.Leu475=)
|
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
NM_015046.7(SETX):c.1443T>C (p.Ser481=)
|
|
|
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro)
|
rs2131461009
|
|
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
|
|
|
NM_015046.7(SETX):c.14G>C (p.Cys5Ser)
|
rs1589791895
|
|
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)
|
rs777256092
|
|
NM_015046.7(SETX):c.1535C>G (p.Ser512Cys)
|
|
|
NM_015046.7(SETX):c.1536C>T (p.Ser512=)
|
rs2131460559
|
|
NM_015046.7(SETX):c.1541G>C (p.Gly514Ala)
|
|
|
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
|
|
|
NM_015046.7(SETX):c.1549A>G (p.Met517Val)
|
|
|
NM_015046.7(SETX):c.156T>C (p.Asp52=)
|
rs1848476611
|
|
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala)
|
rs2131460183
|
|
NM_015046.7(SETX):c.1576A>G (p.Met526Val)
|
rs762013471
|
|
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
|
|
|
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp)
|
rs1847120441
|
|
NM_015046.7(SETX):c.1590T>C (p.Ser530=)
|
|
|
NM_015046.7(SETX):c.159A>G (p.Glu53=)
|
rs2131575185
|
|
NM_015046.7(SETX):c.160T>C (p.Leu54=)
|
|
|
NM_015046.7(SETX):c.1617T>A (p.Ile539=)
|
|
|
NM_015046.7(SETX):c.1621A>G (p.Ser541Gly)
|
|
|
NM_015046.7(SETX):c.162G>A (p.Leu54=)
|
rs1175429740
|
|
NM_015046.7(SETX):c.1655A>C (p.Gln552Pro)
|
|
|
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)
|
|
|
NM_015046.7(SETX):c.1668G>A (p.Lys556=)
|
rs1328865930
|
|
NM_015046.7(SETX):c.1732A>G (p.Ser578Gly)
|
rs770280073
|
|
NM_015046.7(SETX):c.173A>G (p.His58Arg)
|
|
|
NM_015046.7(SETX):c.174T>C (p.His58=)
|
rs1470975448
|
|
NM_015046.7(SETX):c.177+6A>G
|
rs2131575018
|
|
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
|
|
|
NM_015046.7(SETX):c.178-19C>T
|
|
|
NM_015046.7(SETX):c.1783A>G (p.Ile595Val)
|
|
|
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
|
|
|
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
|
|
|
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
|
|
|
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe)
|
rs143340285
|
|
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
|
|
|
NM_015046.7(SETX):c.1886A>C (p.Lys629Thr)
|
rs768673354
|
|
NM_015046.7(SETX):c.1890G>A (p.Thr630=)
|
|
|
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
|
|
|
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp)
|
rs998278975
|
|
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
|
|
|
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys)
|
rs886063557
|
|
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
|
|
|
NM_015046.7(SETX):c.1934T>A (p.Phe645Tyr)
|
rs2131457188
|
|
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
|
|
|
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
|
|
|
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
|
|
|
NM_015046.7(SETX):c.1966G>A (p.Val656Ile)
|
|
|
NM_015046.7(SETX):c.197C>T (p.Thr66Ile)
|
|
|
NM_015046.7(SETX):c.1986C>T (p.Asn662=)
|
rs1307680734
|
|
NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)
|
|
|
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
|
|
|
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys)
|
rs1339144218
|
|
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln)
|
rs1339144218
|
|
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)
|
|
|
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
|
|
|
NM_015046.7(SETX):c.199T>C (p.Leu67=)
|
rs2131558600
|
|
NM_015046.7(SETX):c.2037A>G (p.Leu679=)
|
rs1432462823
|
|
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
|
|
|
NM_015046.7(SETX):c.207C>G (p.Leu69=)
|
|
|
NM_015046.7(SETX):c.2096A>G (p.Glu699Gly)
|
|
|
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile)
|
rs1554821571
|
|
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
|
|
|
NM_015046.7(SETX):c.2133G>A (p.Lys711=)
|
rs746772505
|
|
NM_015046.7(SETX):c.2154C>A (p.Ile718=)
|
|
|
NM_015046.7(SETX):c.2160A>C (p.Ser720=)
|
|
|
NM_015046.7(SETX):c.2177G>A (p.Cys726Tyr)
|
|
|
NM_015046.7(SETX):c.2190T>C (p.Asn730=)
|
|
|
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly)
|
rs2131454695
|
|
NM_015046.7(SETX):c.2232A>C (p.Thr744=)
|
rs749481788
|
|
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
|
|
|
NM_015046.7(SETX):c.2267A>T (p.Glu756Val)
|
rs202036078
|
|
NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)
|
|
|
NM_015046.7(SETX):c.2303A>T (p.Lys768Met)
|
rs1554821462
|
|
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
|
|
|
NM_015046.7(SETX):c.2316T>C (p.Leu772=)
|
|
|
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu)
|
rs2131453786
|
|
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile)
|
rs1554821445
|
|
NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)
|
|
|
NM_015046.7(SETX):c.2380G>A (p.Val794Ile)
|
|
|
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)
|
rs745775419
|
|
NM_015046.7(SETX):c.23C>T (p.Thr8Met)
|
rs1057520367
|
|
NM_015046.7(SETX):c.2415C>T (p.Val805=)
|
|
|
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)
|
|
|
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
|
|
|
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
|
|
|
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
|
|
|
NM_015046.7(SETX):c.2445G>T (p.Leu815Phe)
|
|
|
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys)
|
rs544815791
|
|
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
|
|
|
NM_015046.7(SETX):c.24G>A (p.Thr8=)
|
|
|
NM_015046.7(SETX):c.2516A>T (p.His839Leu)
|
rs1847047743
|
|
NM_015046.7(SETX):c.2517C>T (p.His839=)
|
rs1464623855
|
|
NM_015046.7(SETX):c.2520T>C (p.Asn840=)
|
|
|
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
|
rs1847046317
|
|
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg)
|
rs774820992
|
|
NM_015046.7(SETX):c.2536A>G (p.Ser846Gly)
|
|
|
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
|
|
|
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)
|
|
|
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
|
|
|
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
|
|
|
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
|
|
|
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
|
|
|
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu)
|
rs2131450530
|
|
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
|
|
|
NM_015046.7(SETX):c.2646C>T (p.Asn882=)
|
|
|
NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)
|
|
|
NM_015046.7(SETX):c.2668C>T (p.His890Tyr)
|
|
|
NM_015046.7(SETX):c.267A>C (p.Ile89=)
|
|
|
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
|
rs1320466105
|
|
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
|
|
|
NM_015046.7(SETX):c.2729C>T (p.Ser910Leu)
|
|
|
NM_015046.7(SETX):c.273C>T (p.Asp91=)
|
|
|
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
|
|
|
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn)
|
rs1258279869
|
|
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
|
|
|
NM_015046.7(SETX):c.2830C>G (p.Pro944Ala)
|
|
|
NM_015046.7(SETX):c.2842C>T (p.Pro948Ser)
|
rs778882347
|
|
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr)
|
rs1847020598
|
|
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
|
|
|
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
|
|
|
NM_015046.7(SETX):c.2895A>G (p.Leu965=)
|
|
|
NM_015046.7(SETX):c.2902C>T (p.Leu968=)
|
|
|
NM_015046.7(SETX):c.2907T>A (p.Ala969=)
|
|
|
NM_015046.7(SETX):c.2925G>C (p.Thr975=)
|
|
|
NM_015046.7(SETX):c.2958G>A (p.Gln986=)
|
rs969060686
|
|
NM_015046.7(SETX):c.2964A>G (p.Gln988=)
|
|
|
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
|
|
|
NM_015046.7(SETX):c.2988A>G (p.Arg996=)
|
rs1358681495
|
|
NM_015046.7(SETX):c.2990G>A (p.Cys997Tyr)
|
|
|
NM_015046.7(SETX):c.3018A>T (p.Gly1006=)
|
|
|
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu)
|
rs1847007637
|
|
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
|
|
|
NM_015046.7(SETX):c.3027C>T (p.Ser1009=)
|
|
|
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
|
|
|
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)
|
rs765663814
|
|
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly)
|
rs768510428
|
|
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)
|
|
|
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
|
|
|
NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)
|
|
|
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
|
|
|
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del)
|
rs576141809
|
|
NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)
|
|
|
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
|
|
|
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)
|
|
|
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
|
|
|
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val)
|
rs931570379
|
|
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
|
|
|
NM_015046.7(SETX):c.3265G>A (p.Val1089Met)
|
rs917637229
|
|
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
|
|
|
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
|
|
|
NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)
|
|
|
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
|
|
|
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser)
|
rs545072717
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
|
|
|
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
|
rs1564541749
|
|
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp)
|
rs1278965355
|
|
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala)
|
rs866546546
|
|
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp)
|
rs907569728
|
|
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
|
|
|
NM_015046.7(SETX):c.33T>C (p.Gly11=)
|
rs1243832257
|
|
NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp)
|
|
|
NM_015046.7(SETX):c.3422A>T (p.His1141Leu)
|
rs1554820904
|
|
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)
|
|
|
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)
|
|
|
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu)
|
rs748505684
|
|
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
|
|
|
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly)
|
rs1554820858
|
|
NM_015046.7(SETX):c.34G>T (p.Ala12Ser)
|
|
|
NM_015046.7(SETX):c.3515A>G (p.Asp1172Gly)
|
|
|
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala)
|
rs141996565
|
|
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
|
|
|
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr)
|
rs1846954116
|
|
NM_015046.7(SETX):c.3567T>C (p.Asn1189=)
|
|
|
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn)
|
rs149558692
|
|
NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)
|
|
|
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
|
|
|
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
|
|
|
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
|
|
|
NM_015046.7(SETX):c.3632G>A (p.Arg1211His)
|
|
|
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala)
|
rs1846942479
|
|
NM_015046.7(SETX):c.3651G>A (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.3651G>C (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.3651G>T (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del)
|
rs1238089698
|
|
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
|
|
|
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe)
|
rs2131440671
|
|
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter)
|
rs2131440608
|
|
NM_015046.7(SETX):c.3699C>T (p.Ile1233=)
|
|
|
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
|
|
|
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
|
|
|
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
|
|
|
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg)
|
rs1467137301
|
|
NM_015046.7(SETX):c.3732A>G (p.Lys1244=)
|
|
|
NM_015046.7(SETX):c.3737A>C (p.His1246Pro)
|
rs2131440106
|
|
NM_015046.7(SETX):c.3761A>C (p.Asn1254Thr)
|
|
|
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del)
|
rs2131439346
|
|
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
|
|
|
NM_015046.7(SETX):c.3819A>G (p.Lys1273=)
|
|
|
NM_015046.7(SETX):c.387_388+2del
|
|
|
NM_015046.7(SETX):c.388+19C>G
|
|
|
NM_015046.7(SETX):c.388+19C>T
|
|
|
NM_015046.7(SETX):c.388+8T>G
|
|
|
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
|
|
|
NM_015046.7(SETX):c.389-20A>C
|
rs1848060275
|
|
NM_015046.7(SETX):c.389-7T>C
|
|
|
NM_015046.7(SETX):c.389-8_389-6del
|
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
|
|
|
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
|
|
|
NM_015046.7(SETX):c.3942C>T (p.Gly1314=)
|
|
|
NM_015046.7(SETX):c.3945A>G (p.Lys1315=)
|
|
|
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)
|
rs1564539968
|
|
NM_015046.7(SETX):c.3966C>T (p.Thr1322=)
|
|
|
NM_015046.7(SETX):c.397T>G (p.Cys133Gly)
|
rs766625711
|
|
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
|
|
|
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
|
|
|
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)
|
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
|
|
|
NM_015046.7(SETX):c.4053A>G (p.Gln1351=)
|
rs886063553
|
|
NM_015046.7(SETX):c.4071A>G (p.Lys1357=)
|
|
|
NM_015046.7(SETX):c.407C>T (p.Ala136Val)
|
|
|
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
|
|
|
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)
|
|
|
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)
|
rs1445388214
|
|
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
|
|
|
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
|
|
|
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
|
|
|
NM_015046.7(SETX):c.4210G>A (p.Val1404Ile)
|
|
|
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)
|
|
|
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
|
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
NM_015046.7(SETX):c.4325G>A (p.Cys1442Tyr)
|
|
|
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
|
|
|
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)
|
rs1477696040
|
|
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
|
|
|
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
|
|
|
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
|
|
|
NM_015046.7(SETX):c.4386A>G (p.Glu1462=)
|
rs1554820336
|
|
NM_015046.7(SETX):c.43A>G (p.Ile15Val)
|
rs151040199
|
|
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
|
|
|
NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile)
|
|
|
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)
|
|
|
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
|
|
|
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
|
|
|
NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)
|
|
|
NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)
|
|
|
NM_015046.7(SETX):c.4500A>G (p.Gln1500=)
|
|
|
NM_015046.7(SETX):c.4516A>G (p.Met1506Val)
|
|
|
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys)
|
rs199974622
|
|
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)
|
rs199974622
|
|
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
|
|
|
NM_015046.7(SETX):c.4559T>C (p.Ile1520Thr)
|
|
|
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)
|
|
|
NM_015046.7(SETX):c.4585G>A (p.Val1529Ile)
|
|
|
NM_015046.7(SETX):c.459T>C (p.His153=)
|
rs774939461
|
|
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn)
|
rs746807833
|
|
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val)
|
rs1554820219
|
|
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
|
|
|
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys)
|
rs2131431252
|
|
NM_015046.7(SETX):c.4641A>G (p.Thr1547=)
|
|
|
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser)
|
rs1554820196
|
|
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu)
|
rs776238150
|
|
NM_015046.7(SETX):c.4679dup (p.Asn1560fs)
|
rs746973259
|
|
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
|
|
|
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr)
|
rs781383567
|
|
NM_015046.7(SETX):c.474G>A (p.Leu158=)
|
|
|
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser)
|
rs1846817047
|
|
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
|
|
|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
|
|
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
|
|
|
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
|
|
|
NM_015046.7(SETX):c.4848T>A (p.Thr1616=)
|
|
|
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
|
|
|
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu)
|
rs1022473091
|
|
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)
|
|
|
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg)
|
rs150918808
|
|
NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)
|
|
|
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
|
rs375942182
|
|
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
|
|
|
NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)
|
|
|
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
|
|
|
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
|
|
|
NM_015046.7(SETX):c.4961A>G (p.Asn1654Ser)
|
|
|
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
|
|
|
NM_015046.7(SETX):c.4978C>T (p.His1660Tyr)
|
|
|
NM_015046.7(SETX):c.498+10A>G
|
|
|
NM_015046.7(SETX):c.498+8dup
|
|
|
NM_015046.7(SETX):c.499-13_499-8dup
|
|
|
NM_015046.7(SETX):c.499-18_499-15del
|
|
|
NM_015046.7(SETX):c.499-8G>T
|
|
|
NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)
|
|
|
NM_015046.7(SETX):c.4992G>A (p.Pro1664=)
|
|
|
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)
|
|
|
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
|
|
|
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)
|
|
|
NM_015046.7(SETX):c.5019del (p.Val1674fs)
|
|
|
NM_015046.7(SETX):c.502C>T (p.Arg168Trp)
|
|
|
NM_015046.7(SETX):c.5054C>G (p.Ser1685Cys)
|
rs1846780010
|
|
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
|
|
|
NM_015046.7(SETX):c.5065A>T (p.Asn1689Tyr)
|
rs2131426426
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
NM_015046.7(SETX):c.5097C>T (p.Asp1699=)
|
rs1163054039
|
|
NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)
|
|
|
NM_015046.7(SETX):c.5148T>C (p.Phe1716=)
|
|
|
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
|
|
|
NM_015046.7(SETX):c.5160G>T (p.Gly1720=)
|
rs763408913
|
|
NM_015046.7(SETX):c.5196T>C (p.Pro1732=)
|
|
|
NM_015046.7(SETX):c.5199G>A (p.Val1733=)
|
|
|
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu)
|
rs1846757741
|
|
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
|
|
|
NM_015046.7(SETX):c.5264del (p.Thr1755fs)
|
rs776632212
|
|
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr)
|
rs762175796
|
|
NM_015046.7(SETX):c.5275-14del
|
rs761232500
|
|
NM_015046.7(SETX):c.528A>G (p.Arg176=)
|
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
|
|
|
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser)
|
rs886063552
|
|
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
|
|
|
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
|
|
|
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
|
|
|
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
|
|
|
NM_015046.7(SETX):c.5374+20A>G
|
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.5375-20G>T
|
|
|
NM_015046.7(SETX):c.5375-9G>A
|
|
|
NM_015046.7(SETX):c.5375-9G>C
|
rs1239409311
|
|
NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
|
|
|
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
|
|
|
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)
|
|
|
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)
|
|
|
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
|
|
|
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)
|
|
|
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
|
|
|
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
|
|
|
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu)
|
rs2131306081
|
|
NM_015046.7(SETX):c.5505A>G (p.Glu1835=)
|
rs2131305953
|
|
NM_015046.7(SETX):c.5538C>G (p.Arg1846=)
|
|
|
NM_015046.7(SETX):c.5549-5G>A
|
|
|
NM_015046.7(SETX):c.5549-6T>C
|
|
|
NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
|
|
|
NM_015046.7(SETX):c.5604G>A (p.Pro1868=)
|
rs373607369
|
|
NM_015046.7(SETX):c.5609A>G (p.Asn1870Ser)
|
|
|
NM_015046.7(SETX):c.5627A>G (p.Asn1876Ser)
|
|
|
NM_015046.7(SETX):c.5637A>T (p.Val1879=)
|
rs2131295454
|
|
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
|
|
|
NM_015046.7(SETX):c.567A>G (p.Leu189=)
|
|
|
NM_015046.7(SETX):c.5693G>A (p.Ser1898Asn)
|
|
|
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
|
|
|
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
|
|
|
NM_015046.7(SETX):c.5754T>C (p.Asp1918=)
|
|
|
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro)
|
rs1844774142
|
|
NM_015046.7(SETX):c.5781+7G>A
|
|
|
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp)
|
rs1443102808
|
|
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr)
|
rs1844714133
|
|
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
|
|
|
NM_015046.7(SETX):c.5835A>G (p.Ala1945=)
|
rs1298267771
|
|
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
|
|
|
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
|
|
|
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser)
|
|
|
NM_015046.7(SETX):c.589T>A (p.Phe197Ile)
|
rs1847622210
|
|
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
|
|
|
NM_015046.7(SETX):c.590T>C (p.Phe197Ser)
|
rs1847622037
|
|
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
|
|
|
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro)
|
rs761031238
|
|
NM_015046.7(SETX):c.5949+13G>A
|
|
|
NM_015046.7(SETX):c.5949+13G>T
|
rs2131289221
|
|
NM_015046.7(SETX):c.5949+4_5949+7del
|
rs1844702677
|
|
NM_015046.7(SETX):c.5949G>A (p.Glu1983=)
|
rs2131289331
|
|
NM_015046.7(SETX):c.5950-11G>A
|
|
|
NM_015046.7(SETX):c.5950-20G>A
|
|
|
NM_015046.7(SETX):c.5950-4G>A
|
|
|
NM_015046.7(SETX):c.5950-5T>C
|
|
|
NM_015046.7(SETX):c.5964G>A (p.Gly1988=)
|
rs775658101
|
|
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser)
|
rs2131284986
|
|
NM_015046.7(SETX):c.5994C>T (p.Ile1998=)
|
|
|
NM_015046.7(SETX):c.6021A>G (p.Ala2007=)
|
|
|
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
|
|
|
NM_015046.7(SETX):c.60C>T (p.Arg20=)
|
rs553346505
|
|
NM_015046.7(SETX):c.6106+8A>G
|
rs1314479594
|
|
NM_015046.7(SETX):c.6106+8dup
|
|
|
NM_015046.7(SETX):c.6107-19C>T
|
|
|
NM_015046.7(SETX):c.6107-3C>T
|
|
|
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)
|
|
|
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys)
|
rs762479596
|
|
NM_015046.7(SETX):c.6150G>A (p.Lys2050=)
|
|
|
NM_015046.7(SETX):c.6159T>C (p.Asn2053=)
|
rs2131248104
|
|
NM_015046.7(SETX):c.617A>C (p.Glu206Ala)
|
rs759880306
|
|
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met)
|
rs2131247894
|
|
NM_015046.7(SETX):c.6205A>G (p.Met2069Val)
|
|
|
NM_015046.7(SETX):c.6208+17G>T
|
|
|
NM_015046.7(SETX):c.6208+2dup
|
|
|
NM_015046.7(SETX):c.6209-12T>G
|
|
|
NM_015046.7(SETX):c.6209-18_6209-15del
|
|
|
NM_015046.7(SETX):c.6209-19dup
|
|
|
NM_015046.7(SETX):c.6209-7_6209-6insG
|
rs2131246566
|
|
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
|
|
|
NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)
|
|
|
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter)
|
rs1844047388
|
|
NM_015046.7(SETX):c.6282T>C (p.Leu2094=)
|
|
|
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter)
|
rs770684782
|
|
NM_015046.7(SETX):c.62A>G (p.Tyr21Cys)
|
|
|
NM_015046.7(SETX):c.6300A>G (p.Leu2100=)
|
|
|
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
|
|
|
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
|
|
|
NM_015046.7(SETX):c.6324+5C>G
|
|
|
NM_015046.7(SETX):c.6325-5dup
|
|
|
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val)
|
rs1589647043
|
|
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly)
|
rs957607977
|
|
NM_015046.7(SETX):c.6384T>A (p.Ser2128=)
|
rs2131234628
|
|
NM_015046.7(SETX):c.6390T>C (p.Ile2130=)
|
rs2131234539
|
|
NM_015046.7(SETX):c.6397-17A>C
|
|
|
NM_015046.7(SETX):c.6397-20T>C
|
|
|
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)
|
rs121434378
|
|
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
|
|
|
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln)
|
rs1387036733
|
|
NM_015046.7(SETX):c.6441G>A (p.Glu2147=)
|
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
NM_015046.7(SETX):c.6486A>G (p.Leu2162=)
|
|
|
NM_015046.7(SETX):c.64G>T (p.Ala22Ser)
|
rs756600708
|
|
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys)
|
rs1843647719
|
|
NM_015046.7(SETX):c.6516T>G (p.Gly2172=)
|
|
|
NM_015046.7(SETX):c.6525C>T (p.Phe2175=)
|
|
|
NM_015046.7(SETX):c.6547-11A>G
|
|
|
NM_015046.7(SETX):c.6547-15del
|
|
|
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu)
|
rs1843510567
|
|
NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)
|
|
|
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
|
|
|
NM_015046.7(SETX):c.6610C>T (p.Leu2204=)
|
rs2131200445
|
|
NM_015046.7(SETX):c.6635C>G (p.Pro2212Arg)
|
|
|
NM_015046.7(SETX):c.6654+5G>A
|
rs1843497922
|
|
NM_015046.7(SETX):c.6654+9_6654+11del
|
|
|
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)
|
|
|
NM_015046.7(SETX):c.667C>A (p.Leu223Ile)
|
rs774068411
|
|
NM_015046.7(SETX):c.667C>G (p.Leu223Val)
|
rs774068411
|
|
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
|
rs764541704
|
|
NM_015046.7(SETX):c.6685A>G (p.Met2229Val)
|
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
|
|
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys)
|
rs2131182464
|
|
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
|
|
|
NM_015046.7(SETX):c.6756A>G (p.Leu2252=)
|
|
|
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
|
|
|
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu)
|
rs1843274414
|
|
NM_015046.7(SETX):c.6796C>G (p.Leu2266Val)
|
|
|
NM_015046.7(SETX):c.6808A>C (p.Asn2270His)
|
rs1843272035
|
|
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
|
|
|
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala)
|
rs1843271572
|
|
NM_015046.7(SETX):c.682A>G (p.Met228Val)
|
|
|
NM_015046.7(SETX):c.6842+11dup
|
|
|
NM_015046.7(SETX):c.6842+15T>A
|
|
|
NM_015046.7(SETX):c.6842+19T>C
|
|
|
NM_015046.7(SETX):c.6842+1G>T
|
rs1038776365
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-3_6843-1del
|
rs1186690391
|
|
NM_015046.7(SETX):c.6843-4A>T
|
rs1466427179
|
|
NM_015046.7(SETX):c.6843-5del
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6849A>G (p.Thr2283=)
|
|
|
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
|
|
|
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)
|
|
|
NM_015046.7(SETX):c.68C>T (p.Ser23Phe)
|
rs1323126988
|
|
NM_015046.7(SETX):c.6936-8T>A
|
|
|
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
|
|
|
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
|
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
|
|
|
NM_015046.7(SETX):c.7041T>C (p.His2347=)
|
|
|
NM_015046.7(SETX):c.7059G>A (p.Thr2353=)
|
|
|
NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu)
|
|
|
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
|
|
|
NM_015046.7(SETX):c.708C>T (p.Ser236=)
|
|
|
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn)
|
|
|
NM_015046.7(SETX):c.7100+19T>C
|
|
|
NM_015046.7(SETX):c.7100+2T>C
|
|
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
|
NM_015046.7(SETX):c.7100+7C>T
|
|
|
NM_015046.7(SETX):c.7101-16T>C
|
|
|
NM_015046.7(SETX):c.7131C>T (p.Phe2377=)
|
|
|
NM_015046.7(SETX):c.7146G>A (p.Lys2382=)
|
rs2131148463
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
NM_015046.7(SETX):c.7164G>A (p.Thr2388=)
|
rs368602563
|
|
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)
|
|
|
NM_015046.7(SETX):c.718+11T>A
|
|
|
NM_015046.7(SETX):c.718+13C>T
|
|
|
NM_015046.7(SETX):c.718+16A>C
|
rs769647958
|
|
NM_015046.7(SETX):c.718+18A>C
|
rs773630853
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
NM_015046.7(SETX):c.719-17T>G
|
rs140720865
|
|
NM_015046.7(SETX):c.719-17dup
|
|
|
NM_015046.7(SETX):c.719-18C>T
|
|
|
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp)
|
rs2131148064
|
|
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe)
|
rs150489999
|
|
NM_015046.7(SETX):c.7199+14_7199+16del
|
|
|
NM_015046.7(SETX):c.7199+17G>T
|
rs768161524
|
|
NM_015046.7(SETX):c.7200-10dup
|
rs531485265
|
|
NM_015046.7(SETX):c.7200-11_7200-10del
|
rs531485265
|
|
NM_015046.7(SETX):c.7200-3T>C
|
|
|
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)
|
|
|
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val)
|
rs1402767850
|
|
NM_015046.7(SETX):c.7222T>C (p.Leu2408=)
|
|
|
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
|
|
|
NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)
|
|
|
NM_015046.7(SETX):c.7235T>C (p.Ile2412Thr)
|
rs2131137949
|
|
NM_015046.7(SETX):c.7248G>A (p.Lys2416=)
|
|
|
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
|
|
|
NM_015046.7(SETX):c.727A>G (p.Met243Val)
|
|
|
NM_015046.7(SETX):c.7281C>G (p.Thr2427=)
|
rs1482971726
|
|
NM_015046.7(SETX):c.7288-14C>T
|
|
|
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
|
|
|
NM_015046.7(SETX):c.7360A>G (p.Asn2454Asp)
|
|
|
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
|
|
|
NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)
|
|
|
NM_015046.7(SETX):c.7370A>G (p.His2457Arg)
|
rs753051382
|
|
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr)
|
rs1182285610
|
|
NM_015046.7(SETX):c.737C>G (p.Thr246Ser)
|
rs1847481832
|
|
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
|
|
|
NM_015046.7(SETX):c.7427C>A (p.Pro2476His)
|
rs767515528
|
|
NM_015046.7(SETX):c.742C>T (p.Leu248Phe)
|
rs748358261
|
|
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser)
|
rs771027936
|
|
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys)
|
rs2131114345
|
|
NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys)
|
|
|
NM_015046.7(SETX):c.7458C>G (p.Pro2486=)
|
rs2131114205
|
|
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
|
|
|
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn)
|
rs1564464193
|
|
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
|
|
|
NM_015046.7(SETX):c.7494A>C (p.Gly2498=)
|
rs1404779640
|
|
NM_015046.7(SETX):c.7508C>G (p.Ser2503Cys)
|
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)
|
|
|
NM_015046.7(SETX):c.7530C>G (p.His2510Gln)
|
rs1303389955
|
|
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)
|
|
|
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser)
|
rs557347174
|
|
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
|
|
|
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)
|
|
|
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
|
|
|
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys)
|
rs2131113325
|
|
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp)
|
rs2131113303
|
|
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
|
|
|
NM_015046.7(SETX):c.75T>G (p.Thr25=)
|
rs1589791526
|
|
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg)
|
rs2131113093
|
|
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
|
|
|
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
|
|
|
NM_015046.7(SETX):c.763T>A (p.Ser255Thr)
|
|
|
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter)
|
rs1039417117
|
|
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu)
|
rs1842546596
|
|
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)
|
rs368269464
|
|
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
|
|
|
NM_015046.7(SETX):c.7680C>A (p.Pro2560=)
|
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
NM_015046.7(SETX):c.7711C>T (p.Pro2571Ser)
|
rs1554801479
|
|
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
|
|
|
NM_015046.7(SETX):c.7713T>C (p.Pro2571=)
|
rs2131112226
|
|
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)
|
|
|
NM_015046.7(SETX):c.7725G>A (p.Pro2575=)
|
rs201695580
|
|
NM_015046.7(SETX):c.7725G>C (p.Pro2575=)
|
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)
|
rs144121978
|
|
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly)
|
rs2131112014
|
|
NM_015046.7(SETX):c.7749C>T (p.Asp2583=)
|
rs754701648
|
|
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
|
|
|
NM_015046.7(SETX):c.7750C>T (p.Leu2584=)
|
rs1842537896
|
|
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
|
|
|
NM_015046.7(SETX):c.7764G>A (p.Gln2588=)
|
|
|
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer)
|
rs2131111712
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
NM_015046.7(SETX):c.7786G>T (p.Ala2596Ser)
|
|
|
NM_015046.7(SETX):c.77C>G (p.Pro26Arg)
|
rs377617692
|
|
NM_015046.7(SETX):c.7810G>A (p.Val2604Met)
|
rs757554863
|
|
NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)
|
|
|
NM_015046.7(SETX):c.7813C>T (p.Arg2605Trp)
|
|
|
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala)
|
rs765888424
|
|
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
|
|
|
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr)
|
rs979454428
|
|
NM_015046.7(SETX):c.784A>G (p.Lys262Glu)
|
rs2131492208
|
|
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)
|
rs1421049695
|
|
NM_015046.7(SETX):c.7857G>A (p.Gln2619=)
|
|
|
NM_015046.7(SETX):c.785A>G (p.Lys262Arg)
|
rs770255148
|
|
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg)
|
rs778362262
|
|
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
|
rs536241867
|
|
NM_015046.7(SETX):c.7881G>A (p.Glu2627=)
|
|
|
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)
|
|
|
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
|
|
|
NM_015046.7(SETX):c.792T>C (p.Asn264=)
|
|
|
NM_015046.7(SETX):c.7941T>C (p.Gly2647=)
|
rs1471003365
|
|
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
|
|
|
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
|
|
|
NM_015046.7(SETX):c.7984del (p.Arg2662fs)
|
rs2131109788
|
|
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
|
|
|
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
|
|
|
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe)
|
rs749325764
|
|
NM_015046.7(SETX):c.80C>T (p.Ser27Phe)
|
|
|
NM_015046.7(SETX):c.823G>C (p.Glu275Gln)
|
rs901741485
|
|
NM_015046.7(SETX):c.838+10T>G
|
rs2131491563
|
|
NM_015046.7(SETX):c.839-14C>T
|
|
|
NM_015046.7(SETX):c.839-20A>G
|
|
|
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
|
|
|
NM_015046.7(SETX):c.879T>C (p.Phe293=)
|
|
|
NM_015046.7(SETX):c.896G>A (p.Arg299His)
|
|
|
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)
|
rs28941475
|
|
NM_015046.7(SETX):c.912C>T (p.Val304=)
|
rs1473756878
|
|
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
|
|
|
NM_015046.7(SETX):c.92A>G (p.Gln31Arg)
|
|
|
NM_015046.7(SETX):c.951C>T (p.Thr317=)
|
rs1025452911
|
|
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
|
|
|
NM_015046.7(SETX):c.988C>T (p.His330Tyr)
|
rs1847220041
|
|
NM_016042.4(EXOSC3):c.*118G>T
|
rs1059059
|
|
NM_016042.4(EXOSC3):c.*242A>C
|
rs1828556271
|
|
NM_016042.4(EXOSC3):c.*354C>A
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*354C>G
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*419A>G
|
rs1828546518
|
|
NM_016042.4(EXOSC3):c.*582A>C
|
rs886063932
|
|
NM_016042.4(EXOSC3):c.*812T>G
|
rs886063931
|
|
NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)
|
|
|
NM_016042.4(EXOSC3):c.105C>T (p.Leu35=)
|
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu)
|
rs372128042
|
|
NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)
|
|
|
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
|
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
NM_016042.4(EXOSC3):c.150G>A (p.Glu50=)
|
|
|
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
|
|
|
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
|
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)
|
|
|
NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)
|
|
|
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
|
|
|
NM_016042.4(EXOSC3):c.171T>C (p.Ala57=)
|
rs1589061382
|
|
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
|
|
|
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe)
|
rs749691951
|
|
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
|
|
|
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
|
|
|
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
|
|
|
NM_016042.4(EXOSC3):c.201C>T (p.Cys67=)
|
|
|
NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys)
|
rs745785017
|
|
NM_016042.4(EXOSC3):c.209G>A (p.Gly70Asp)
|
|
|
NM_016042.4(EXOSC3):c.21C>A (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.21C>G (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
|
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)
|
|
|
NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.234G>T (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.240C>T (p.Val80=)
|
|
|
NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)
|
|
|
NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)
|
|
|
NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val)
|
rs2118981494
|
|
NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)
|
|
|
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser)
|
rs1404319370
|
|
NM_016042.4(EXOSC3):c.261T>A (p.Arg87=)
|
rs1294998925
|
|
NM_016042.4(EXOSC3):c.264C>T (p.His88=)
|
|
|
NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)
|
|
|
NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)
|
|
|
NM_016042.4(EXOSC3):c.27T>C (p.Ala9=)
|
|
|
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
|
|
|
NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)
|
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
|
|
|
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
|
|
|
NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)
|
|
|
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
|
|
|
NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)
|
|
|
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)
|
|
|
NM_016042.4(EXOSC3):c.324+9G>T
|
|
|
NM_016042.4(EXOSC3):c.325-10C>G
|
|
|
NM_016042.4(EXOSC3):c.325-1G>T
|
|
|
NM_016042.4(EXOSC3):c.325-20C>T
|
|
|
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
|
|
|
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
|
|
|
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)
|
rs145622193
|
|
NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)
|
|
|
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly)
|
rs2118980284
|
|
NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)
|
|
|
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
|
|
|
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr)
|
rs758230758
|
|
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs)
|
rs2118980242
|
|
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln)
|
rs373193552
|
|
NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)
|
|
|
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
|
|
|
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)
|
rs1198691735
|
|
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)
|
rs1828647523
|
|
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs)
|
rs2118980158
|
|
NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)
|
|
|
NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)
|
|
|
NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
|
|
|
NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)
|
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)
|
|
|
NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)
|
|
|
NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)
|
|
|
NM_016042.4(EXOSC3):c.474+11G>C
|
|
|
NM_016042.4(EXOSC3):c.474+11del
|
|
|
NM_016042.4(EXOSC3):c.474+13G>A
|
|
|
NM_016042.4(EXOSC3):c.474+14C>T
|
|
|
NM_016042.4(EXOSC3):c.474+15C>T
|
|
|
NM_016042.4(EXOSC3):c.474+16T>C
|
|
|
NM_016042.4(EXOSC3):c.474+8C>T
|
|
|
NM_016042.4(EXOSC3):c.474+9G>A
|
|
|
NM_016042.4(EXOSC3):c.475-15T>A
|
|
|
NM_016042.4(EXOSC3):c.475-6T>C
|
|
|
NM_016042.4(EXOSC3):c.475-8_475-6del
|
|
|
NM_016042.4(EXOSC3):c.475-8del
|
|
|
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)
|
rs2118977758
|
|
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
|
|
|
NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)
|
|
|
NM_016042.4(EXOSC3):c.537C>T (p.Val179=)
|
|
|
NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)
|
|
|
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
|
|
|
NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)
|
rs730882145
|
|
NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)
|
|
|
NM_016042.4(EXOSC3):c.57T>C (p.Ala19=)
|
|
|
NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)
|
|
|
NM_016042.4(EXOSC3):c.591T>G (p.Gly197=)
|
rs753935327
|
|
NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)
|
|
|
NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)
|
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
|
|
|
NM_016042.4(EXOSC3):c.626+11A>G
|
|
|
NM_016042.4(EXOSC3):c.626+15C>G
|
|
|
NM_016042.4(EXOSC3):c.627-12_627-8del
|
rs778480656
|
|
NM_016042.4(EXOSC3):c.627-16_627-12del
|
|
|
NM_016042.4(EXOSC3):c.627-18C>A
|
|
|
NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)
|
|
|
NM_016042.4(EXOSC3):c.63C>G (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)
|
|
|
NM_016042.4(EXOSC3):c.663G>A (p.Val221=)
|
|
|
NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.66A>G (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
|
|
|
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
|
|
|
NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)
|
|
|
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
|
|
|
NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)
|
|
|
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
|
|
|
NM_016042.4(EXOSC3):c.69A>G (p.Val23=)
|
|
|
NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>G (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)
|
|
|
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
|
|
|
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)
|
rs140199968
|
|
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)
|
rs140199968
|
|
NM_016042.4(EXOSC3):c.70C>T (p.Leu24=)
|
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
|
|
|
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr)
|
rs2118975671
|
|
NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)
|
|
|
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser)
|
rs561283125
|
|
NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)
|
|
|
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)
|
rs767942736
|
|
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
|
|
|
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
|
|
|
NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)
|
|
|
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del)
|
rs755175121
|
|
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
|
|
|
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
|
|
|
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
|
|
|
NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)
|
|
|
NM_016042.4(EXOSC3):c.81G>C (p.Val27=)
|
|
|
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)
|
rs1828567719
|
|
NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)
|
|
|
NM_016955.4(SEPSECS):c.*1031G>A
|
rs559066856
|
|
NM_016955.4(SEPSECS):c.*1622T>C
|
rs886059347
|
|
NM_016955.4(SEPSECS):c.*1635G>A
|
rs886059346
|
|
NM_016955.4(SEPSECS):c.*2300A>G
|
rs184832870
|
|
NM_016955.4(SEPSECS):c.*2480T>G
|
rs966419399
|
|
NM_016955.4(SEPSECS):c.*2618C>A
|
rs1728115319
|
|
NM_016955.4(SEPSECS):c.*2708G>A
|
rs886059342
|
|
NM_016955.4(SEPSECS):c.*271G>A
|
rs544559197
|
|
NM_016955.4(SEPSECS):c.*2871T>C
|
rs1728102688
|
|
NM_016955.4(SEPSECS):c.*2916A>G
|
rs1728100643
|
|
NM_016955.4(SEPSECS):c.*3082A>G
|
rs886059341
|
|
NM_016955.4(SEPSECS):c.*3134C>A
|
rs886059340
|
|
NM_016955.4(SEPSECS):c.*352A>G
|
rs1728221965
|
|
NM_016955.4(SEPSECS):c.*420G>C
|
rs886059352
|
|
NM_016955.4(SEPSECS):c.*470T>G
|
rs886059351
|
|
NM_016955.4(SEPSECS):c.*612G>T
|
rs886059350
|
|
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His)
|
rs1029077401
|
|
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)
|
rs267607036
|
|
NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys)
|
rs1064796736
|
|
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs)
|
rs781277383
|
|
NM_016955.4(SEPSECS):c.1067C>T (p.Ser356Leu)
|
|
|
NM_016955.4(SEPSECS):c.1120+8C>A
|
rs1728415390
|
|
NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr)
|
rs1261267969
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
|
|
NM_016955.4(SEPSECS):c.115-18dup
|
rs34423002
|
|
NM_016955.4(SEPSECS):c.115-4del
|
rs34423002
|
|
NM_016955.4(SEPSECS):c.1178C>T (p.Ser393Leu)
|
|
|
NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr)
|
rs527970470
|
|
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe)
|
rs752082832
|
|
NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu)
|
rs751823145
|
|
NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr)
|
rs1233729947
|
|
NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn)
|
rs1728243877
|
|
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)
|
rs773876739
|
|
NM_016955.4(SEPSECS):c.181A>G (p.Met61Val)
|
rs910702708
|
|
NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu)
|
rs1025711998
|
|
NM_016955.4(SEPSECS):c.238G>A (p.Ala80Thr)
|
|
|
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)
|
rs1309003036
|
|
NM_016955.4(SEPSECS):c.388+5G>A
|
rs1057518887
|
|
NM_016955.4(SEPSECS):c.437T>C (p.Met146Thr)
|
|
|
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter)
|
rs1712612053
|
|
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)
|
rs776438003
|
|
NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys)
|
rs768840152
|
|
NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg)
|
rs1194507895
|
|
NM_016955.4(SEPSECS):c.804+4A>T
|
rs1479554001
|
|
NM_016955.4(SEPSECS):c.812G>T (p.Arg271Leu)
|
rs573577287
|
|
NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val)
|
rs746824533
|
|
NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg)
|
rs1323473750
|
|
NM_016955.5(SEPSECS):c.808dup
|
rs776969714
|
|
NM_017411.4(SMN2):c.835-1897C>T
|
rs1381625877
|
|
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
|
|
|
NM_018325.5(C9orf72):c.*1064A>G
|
rs184151041
|
|
NM_018325.5(C9orf72):c.*1136T>C
|
rs375528640
|
|
NM_018325.5(C9orf72):c.*144C>T
|
rs1820806932
|
|
NM_018325.5(C9orf72):c.*1626G>A
|
rs1820774330
|
|
NM_018325.5(C9orf72):c.*356T>G
|
rs886063838
|
|
NM_018325.5(C9orf72):c.*577G>C
|
rs886063836
|
|
NM_018325.5(C9orf72):c.*787G>A
|
rs148832592
|
|
NM_018325.5(C9orf72):c.1051G>T (p.Asp351Tyr)
|
rs1307772456
|
|
NM_018325.5(C9orf72):c.1055C>G (p.Thr352Arg)
|
|
|
NM_018325.5(C9orf72):c.1426G>C (p.Asp476His)
|
rs767272170
|
|
NM_018325.5(C9orf72):c.218G>A (p.Arg73Gln)
|
rs1819480368
|
|
NM_018325.5(C9orf72):c.329A>G (p.Tyr110Cys)
|
rs1375695528
|
|
NM_018325.5(C9orf72):c.600+27A>G
|
rs2589050
|
|
NM_018325.5(C9orf72):c.771A>G (p.Pro257=)
|
rs1169081203
|
|
NM_018325.5(C9orf72):c.994A>T (p.Met332Leu)
|
rs146043466
|
|
NM_018446.4(GLT8D1):c.1108A>G (p.Ile370Val)
|
rs2154099907
|
|
NM_018834.6(MATR3):c.*138T>C
|
rs1756028343
|
|
NM_018834.6(MATR3):c.*1633T>C
|
rs886059998
|
|
NM_018834.6(MATR3):c.*1821T>G
|
rs886060000
|
|
NM_018834.6(MATR3):c.*1999G>T
|
rs886060002
|
|
NM_018834.6(MATR3):c.*2077A>C
|
rs886060003
|
|
NM_018834.6(MATR3):c.*413A>T
|
rs886059995
|
|
NM_018834.6(MATR3):c.*441C>G
|
rs572126808
|
|
NM_018834.6(MATR3):c.*487C>T
|
rs1756049111
|
|
NM_018834.6(MATR3):c.*640A>G
|
rs145836548
|
|
NM_018834.6(MATR3):c.*929G>A
|
rs886059997
|
|
NM_018834.6(MATR3):c.-124T>C
|
rs886059987
|
|
NM_018834.6(MATR3):c.-139G>A
|
rs886059986
|
|
NM_018834.6(MATR3):c.-43T>A
|
rs12153162
|
|
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
|
|
|
NM_018834.6(MATR3):c.1010A>G (p.His337Arg)
|
rs553687055
|
|
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
|
|
|
NM_018834.6(MATR3):c.1016+13T>C
|
|
|
NM_018834.6(MATR3):c.1017-16G>A
|
rs2151984888
|
|
NM_018834.6(MATR3):c.1017-4C>T
|
rs1035772952
|
|
NM_018834.6(MATR3):c.1017-4dup
|
|
|
NM_018834.6(MATR3):c.102G>A (p.Gln34=)
|
rs747469006
|
|
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr)
|
rs1561938220
|
|
NM_018834.6(MATR3):c.1129+7A>G
|
rs1477606021
|
|
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
|
|
|
NM_018834.6(MATR3):c.1130-14C>G
|
|
|
NM_018834.6(MATR3):c.1130-15T>A
|
|
|
NM_018834.6(MATR3):c.1130-15T>C
|
|
|
NM_018834.6(MATR3):c.1130-18C>A
|
rs1755284160
|
|
NM_018834.6(MATR3):c.1130-8C>G
|
|
|
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
|
|
|
NM_018834.6(MATR3):c.1182+11A>G
|
rs774114454
|
|
NM_018834.6(MATR3):c.1182+17T>G
|
|
|
NM_018834.6(MATR3):c.1182+4A>C
|
rs2151988816
|
|
NM_018834.6(MATR3):c.1183-4A>T
|
|
|
NM_018834.6(MATR3):c.1183-5del
|
|
|
NM_018834.6(MATR3):c.1245A>G (p.Leu415=)
|
|
|
NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile)
|
|
|
NM_018834.6(MATR3):c.1252C>T (p.Leu418=)
|
|
|
NM_018834.6(MATR3):c.1263A>G (p.Pro421=)
|
rs1581248568
|
|
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
|
|
|
NM_018834.6(MATR3):c.1284T>C (p.His428=)
|
|
|
NM_018834.6(MATR3):c.1308+18G>A
|
|
|
NM_018834.6(MATR3):c.1308+24_1308+26del
|
|
|
NM_018834.6(MATR3):c.1309-10A>G
|
|
|
NM_018834.6(MATR3):c.1328C>A (p.Thr443Asn)
|
rs2151995266
|
|
NM_018834.6(MATR3):c.1332A>G (p.Thr444=)
|
|
|
NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)
|
|
|
NM_018834.6(MATR3):c.1344G>C (p.Gln448His)
|
|
|
NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)
|
|
|
NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly)
|
|
|
NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)
|
|
|
NM_018834.6(MATR3):c.1383A>G (p.Val461=)
|
|
|
NM_018834.6(MATR3):c.1398G>A (p.Val466=)
|
|
|
NM_018834.6(MATR3):c.1413C>A (p.Ser471=)
|
|
|
NM_018834.6(MATR3):c.1434+10del
|
rs2151995486
|
|
NM_018834.6(MATR3):c.1435-17G>A
|
rs1291025838
|
|
NM_018834.6(MATR3):c.1486C>A (p.Arg496Ser)
|
|
|
NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)
|
|
|
NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)
|
|
|
NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)
|
|
|
NM_018834.6(MATR3):c.153C>T (p.Arg51=)
|
|
|
NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs)
|
|
|
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn)
|
rs1581251198
|
|
NM_018834.6(MATR3):c.1596A>G (p.Lys532=)
|
|
|
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn)
|
rs1033118784
|
|
NM_018834.6(MATR3):c.1602+10A>G
|
|
|
NM_018834.6(MATR3):c.1602+9C>T
|
|
|
NM_018834.6(MATR3):c.1603-11T>C
|
|
|
NM_018834.6(MATR3):c.1603-11T>G
|
|
|
NM_018834.6(MATR3):c.1603-13_1603-12del
|
|
|
NM_018834.6(MATR3):c.1603-17T>C
|
rs199789148
|
|
NM_018834.6(MATR3):c.1603-17T>G
|
|
|
NM_018834.6(MATR3):c.1603-18C>G
|
|
|
NM_018834.6(MATR3):c.1603-18C>T
|
|
|
NM_018834.6(MATR3):c.1603-19T>C
|
|
|
NM_018834.6(MATR3):c.1603-7T>C
|
rs1161987811
|
|
NM_018834.6(MATR3):c.1603-7_1603-4del
|
|
|
NM_018834.6(MATR3):c.1603-9_1603-6del
|
|
|
NM_018834.6(MATR3):c.1603-9_1603-8del
|
rs1581255414
|
|
NM_018834.6(MATR3):c.1617G>A (p.Met539Ile)
|
rs2152007107
|
|
NM_018834.6(MATR3):c.1629A>G (p.Glu543=)
|
|
|
NM_018834.6(MATR3):c.1642A>G (p.Met548Val)
|
|
|
NM_018834.6(MATR3):c.1654T>A (p.Cys552Ser)
|
rs2152007192
|
|
NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)
|
|
|
NM_018834.6(MATR3):c.165A>G (p.Leu55=)
|
|
|
NM_018834.6(MATR3):c.1668C>T (p.Ala556=)
|
|
|
NM_018834.6(MATR3):c.1689T>C (p.Cys563=)
|
rs201037038
|
|
NM_018834.6(MATR3):c.1716T>C (p.Tyr572=)
|
|
|
NM_018834.6(MATR3):c.1734+10A>G
|
|
|
NM_018834.6(MATR3):c.1734+11T>G
|
rs886059990
|
|
NM_018834.6(MATR3):c.1734+19G>A
|
|
|
NM_018834.6(MATR3):c.1734+7A>G
|
|
|
NM_018834.6(MATR3):c.1735-18A>C
|
rs781510247
|
|
NM_018834.6(MATR3):c.1735-19C>G
|
|
|
NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)
|
|
|
NM_018834.6(MATR3):c.1778+17T>C
|
rs776365113
|
|
NM_018834.6(MATR3):c.1778+19del
|
rs753454728
|
|
NM_018834.6(MATR3):c.1779-19T>G
|
|
|
NM_018834.6(MATR3):c.1779-20GT[2]
|
rs779005896
|
|
NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
|
|
|
NM_018834.6(MATR3):c.1803C>G (p.Gly601=)
|
rs746452114
|
|
NM_018834.6(MATR3):c.1812T>A (p.Ser604=)
|
|
|
NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
|
|
|
NM_018834.6(MATR3):c.1839T>C (p.Asp613=)
|
|
|
NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg)
|
rs2152009933
|
|
NM_018834.6(MATR3):c.184T>A (p.Ser62Thr)
|
rs1357612214
|
|
NM_018834.6(MATR3):c.1854T>A (p.Thr618=)
|
|
|
NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)
|
|
|
NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)
|
|
|
NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg)
|
rs2152010076
|
|
NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)
|
|
|
NM_018834.6(MATR3):c.1899A>G (p.Glu633=)
|
|
|
NM_018834.6(MATR3):c.18G>A (p.Gln6=)
|
|
|
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp)
|
rs1755638457
|
|
NM_018834.6(MATR3):c.1908G>A (p.Glu636=)
|
|
|
NM_018834.6(MATR3):c.190T>C (p.Leu64=)
|
rs775134951
|
|
NM_018834.6(MATR3):c.1912G>C (p.Asp638His)
|
rs1554148872
|
|
NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala)
|
rs2152010206
|
|
NM_018834.6(MATR3):c.1914C>T (p.Asp638=)
|
rs369312174
|
|
NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser)
|
rs765603068
|
|
NM_018834.6(MATR3):c.1920G>A (p.Lys640=)
|
|
|
NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)
|
|
|
NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)
|
|
|
NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)
|
|
|
NM_018834.6(MATR3):c.1929G>C (p.Gln643His)
|
rs553655919
|
|
NM_018834.6(MATR3):c.1929G>T (p.Gln643His)
|
|
|
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu)
|
rs749026971
|
|
NM_018834.6(MATR3):c.1948A>G (p.Met650Val)
|
|
|
NM_018834.6(MATR3):c.1954C>T (p.Leu652Phe)
|
rs886059991
|
|
NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)
|
|
|
NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
|
|
|
NM_018834.6(MATR3):c.1972C>T (p.Leu658=)
|
rs745805004
|
|
NM_018834.6(MATR3):c.2016C>G (p.Gly672=)
|
|
|
NM_018834.6(MATR3):c.2031C>T (p.Asp677=)
|
rs557085910
|
|
NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)
|
|
|
NM_018834.6(MATR3):c.2038G>C (p.Asp680His)
|
rs752161415
|
|
NM_018834.6(MATR3):c.2046T>A (p.Ala682=)
|
|
|
NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)
|
|
|
NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr)
|
rs765251685
|
|
NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)
|
|
|
NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)
|
|
|
NM_018834.6(MATR3):c.2076A>G (p.Lys692=)
|
|
|
NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)
|
|
|
NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)
|
|
|
NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)
|
|
|
NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn)
|
rs2152010949
|
|
NM_018834.6(MATR3):c.2148+14C>G
|
|
|
NM_018834.6(MATR3):c.2148+17T>A
|
|
|
NM_018834.6(MATR3):c.2148+3A>G
|
|
|
NM_018834.6(MATR3):c.2148+8_2148+11del
|
rs745750214
|
|
NM_018834.6(MATR3):c.2148+9A>G
|
|
|
NM_018834.6(MATR3):c.2149-5T>C
|
|
|
NM_018834.6(MATR3):c.2149-8A>G
|
|
|
NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
|
|
|
NM_018834.6(MATR3):c.2160C>T (p.Ile720=)
|
|
|
NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)
|
|
|
NM_018834.6(MATR3):c.2170G>C (p.Asp724His)
|
rs1452903586
|
|
NM_018834.6(MATR3):c.2171A>T (p.Asp724Val)
|
rs1235948155
|
|
NM_018834.6(MATR3):c.2181C>G (p.Asn727Lys)
|
rs772833565
|
|
NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr)
|
|
|
NM_018834.6(MATR3):c.2187A>G (p.Ala729=)
|
|
|
NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly)
|
rs762668138
|
|
NM_018834.6(MATR3):c.2190G>A (p.Ala730=)
|
|
|
NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
|
|
|
NM_018834.6(MATR3):c.2199T>C (p.Asn733=)
|
|
|
NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)
|
|
|
NM_018834.6(MATR3):c.2203A>G (p.Ile735Val)
|
|
|
NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)
|
|
|
NM_018834.6(MATR3):c.2220C>T (p.Asn740=)
|
rs1204915381
|
|
NM_018834.6(MATR3):c.2223A>G (p.Thr741=)
|
|
|
NM_018834.6(MATR3):c.2232T>G (p.Gly744=)
|
rs1581261752
|
|
NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro)
|
rs772433814
|
|
NM_018834.6(MATR3):c.2235T>C (p.Ala745=)
|
|
|
NM_018834.6(MATR3):c.2237A>G (p.Glu746Gly)
|
|
|
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del)
|
rs1016579955
|
|
NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)
|
|
|
NM_018834.6(MATR3):c.2300A>T (p.Asp767Val)
|
|
|
NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)
|
|
|
NM_018834.6(MATR3):c.2301T>C (p.Asp767=)
|
rs748749843
|
|
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
|
|
|
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn)
|
rs1755815403
|
|
NM_018834.6(MATR3):c.2313C>T (p.Asp771=)
|
|
|
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
|
|
|
NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
|
|
|
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)
|
rs368217486
|
|
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
|
rs368217486
|
|
NM_018834.6(MATR3):c.2321C>T (p.Thr774Ile)
|
rs1755816787
|
|
NM_018834.6(MATR3):c.2323A>G (p.Ile775Val)
|
|
|
NM_018834.6(MATR3):c.2326C>T (p.Pro776Ser)
|
rs370051410
|
|
NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)
|
|
|
NM_018834.6(MATR3):c.2331T>C (p.Asp777=)
|
|
|
NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)
|
|
|
NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)
|
|
|
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
|
|
|
NM_018834.6(MATR3):c.2371+10A>G
|
|
|
NM_018834.6(MATR3):c.2371+13T>G
|
rs2152022664
|
|
NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG
|
|
|
NM_018834.6(MATR3):c.2372-4C>T
|
|
|
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
|
|
|
NM_018834.6(MATR3):c.2424C>G (p.Leu808=)
|
rs2152024327
|
|
NM_018834.6(MATR3):c.2448A>G (p.Ala816=)
|
|
|
NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala)
|
|
|
NM_018834.6(MATR3):c.2483A>G (p.Gln828Arg)
|
rs2152024424
|
|
NM_018834.6(MATR3):c.2493+12T>A
|
|
|
NM_018834.6(MATR3):c.2493+19C>T
|
rs2152024488
|
|
NM_018834.6(MATR3):c.2493+3A>G
|
rs2152024439
|
|
NM_018834.6(MATR3):c.2494-12_2494-11del
|
rs756391139
|
|
NM_018834.6(MATR3):c.2494-14_2494-11del
|
|
|
NM_018834.6(MATR3):c.2494-8_2494-5del
|
|
|
NM_018834.6(MATR3):c.2494-9T>C
|
|
|
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
|
|
|
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
|
|
|
NM_018834.6(MATR3):c.2521C>G (p.Arg841Gly)
|
|
|
NM_018834.6(MATR3):c.2527C>G (p.Gln843Glu)
|
rs2152033705
|
|
NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del)
|
rs1232740498
|
|
NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)
|
|
|
NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala)
|
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn)
|
rs1460343731
|
|
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
|
|
|
NM_018834.6(MATR3):c.306T>C (p.Arg102=)
|
rs1397245799
|
|
NM_018834.6(MATR3):c.306T>G (p.Arg102=)
|
|
|
NM_018834.6(MATR3):c.334T>C (p.Leu112=)
|
|
|
NM_018834.6(MATR3):c.358A>G (p.Arg120Gly)
|
|
|
NM_018834.6(MATR3):c.420A>G (p.Gln140=)
|
|
|
NM_018834.6(MATR3):c.429A>G (p.Leu143=)
|
|
|
NM_018834.6(MATR3):c.439A>C (p.Arg147=)
|
|
|
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser)
|
rs2151960855
|
|
NM_018834.6(MATR3):c.459C>G (p.Gly153=)
|
|
|
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)
|
rs587777302
|
|
NM_018834.6(MATR3):c.462T>C (p.Pro154=)
|
|
|
NM_018834.6(MATR3):c.474T>C (p.Tyr158=)
|
|
|
NM_018834.6(MATR3):c.491C>T (p.Ser164Phe)
|
rs1191529191
|
|
NM_018834.6(MATR3):c.493_495del (p.Ala165del)
|
rs760040641
|
|
NM_018834.6(MATR3):c.499C>T (p.Arg167Trp)
|
rs138894013
|
|
NM_018834.6(MATR3):c.504G>A (p.Glu168=)
|
|
|
NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)
|
|
|
NM_018834.6(MATR3):c.575G>A (p.Arg192His)
|
|
|
NM_018834.6(MATR3):c.580C>T (p.Pro194Ser)
|
rs2151961098
|
|
NM_018834.6(MATR3):c.626A>G (p.Gln209Arg)
|
rs2151961199
|
|
NM_018834.6(MATR3):c.628_630del (p.Glu210del)
|
rs1754795693
|
|
NM_018834.6(MATR3):c.63G>C (p.Leu21=)
|
|
|
NM_018834.6(MATR3):c.663T>C (p.Asp221=)
|
rs2151961303
|
|
NM_018834.6(MATR3):c.675A>G (p.Arg225=)
|
rs199711502
|
|
NM_018834.6(MATR3):c.687G>T (p.Arg229Ser)
|
|
|
NM_018834.6(MATR3):c.68C>T (p.Ala23Val)
|
|
|
NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)
|
|
|
NM_018834.6(MATR3):c.719C>T (p.Ser240Leu)
|
rs2151961434
|
|
NM_018834.6(MATR3):c.734A>T (p.Lys245Ile)
|
|
|
NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)
|
|
|
NM_018834.6(MATR3):c.747G>A (p.Glu249=)
|
|
|
NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)
|
|
|
NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)
|
|
|
NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)
|
|
|
NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)
|
|
|
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile)
|
rs1554146560
|
|
NM_018834.6(MATR3):c.795C>T (p.Leu265=)
|
rs1354833142
|
|
NM_018834.6(MATR3):c.813C>T (p.Gly271=)
|
rs1754806535
|
|
NM_018834.6(MATR3):c.815C>G (p.Ala272Gly)
|
|
|
NM_018834.6(MATR3):c.81C>G (p.Gly27=)
|
|
|
NM_018834.6(MATR3):c.832A>G (p.Ile278Val)
|
rs765718462
|
|
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu)
|
rs1318047828
|
|
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe)
|
rs1754770320
|
|
NM_018834.6(MATR3):c.870C>T (p.Pro290=)
|
|
|
NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)
|
|
|
NM_018834.6(MATR3):c.883A>G (p.Ile295Val)
|
|
|
NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)
|
|
|
NM_018834.6(MATR3):c.897A>C (p.Pro299=)
|
|
|
NM_018834.6(MATR3):c.90T>C (p.Ala30=)
|
|
|
NM_018834.6(MATR3):c.912+11_912+15del
|
|
|
NM_018834.6(MATR3):c.924A>G (p.Gln308=)
|
|
|
NM_018834.6(MATR3):c.93T>G (p.Ala31=)
|
|
|
NM_018834.6(MATR3):c.952C>A (p.Arg318=)
|
|
|
NM_018834.6(MATR3):c.966T>C (p.Leu322=)
|
|
|
NM_018834.6(MATR3):c.974+20T>C
|
|
|
NM_018834.6(MATR3):c.975-9T>G
|
|
|
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)
|
|
|
NM_019112.4(ABCA7):c.302T>G (p.Leu101Arg)
|
|
|
NM_020631.5(PLEKHG5):c.*1158G>C
|
rs2986754
|
|
NM_020631.5(PLEKHG5):c.*555T>A
|
rs886046494
|
|
NM_020631.5(PLEKHG5):c.*573G>A
|
rs1644399627
|
|
NM_020631.5(PLEKHG5):c.*697C>T
|
rs3176900
|
|
NM_020631.6(PLEKHG5):c.*363C>G
|
rs186882493
|
|
NM_020631.6(PLEKHG5):c.1002G>A (p.Gln334=)
|
|
|
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs)
|
rs1644626732
|
|
NM_020631.6(PLEKHG5):c.1013A>G (p.Gln338Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1029G>A (p.Glu343=)
|
|
|
NM_020631.6(PLEKHG5):c.102A>G (p.Ala34=)
|
rs771144155
|
|
NM_020631.6(PLEKHG5):c.1032G>T (p.Leu344=)
|
|
|
NM_020631.6(PLEKHG5):c.1033C>T (p.Leu345=)
|
|
|
NM_020631.6(PLEKHG5):c.1035G>A (p.Leu345=)
|
|
|
NM_020631.6(PLEKHG5):c.1037A>G (p.His346Arg)
|
rs2148587188
|
|
NM_020631.6(PLEKHG5):c.1047C>T (p.Ala349=)
|
rs187107798
|
|
NM_020631.6(PLEKHG5):c.1050C>G (p.Ser350=)
|
rs1290410043
|
|
NM_020631.6(PLEKHG5):c.1051T>C (p.Tyr351His)
|
rs1569865241
|
|
NM_020631.6(PLEKHG5):c.1052A>G (p.Tyr351Cys)
|
|
|
NM_020631.6(PLEKHG5):c.1064T>C (p.Leu355Pro)
|
rs372001535
|
|
NM_020631.6(PLEKHG5):c.1065G>T (p.Leu355=)
|
rs2148587100
|
|
NM_020631.6(PLEKHG5):c.1073TCA[1] (p.Ile359del)
|
|
|
NM_020631.6(PLEKHG5):c.1080+11G>A
|
|
|
NM_020631.6(PLEKHG5):c.1080+12C>T
|
|
|
NM_020631.6(PLEKHG5):c.1080+13T>C
|
|
|
NM_020631.6(PLEKHG5):c.1080+15C>G
|
|
|
NM_020631.6(PLEKHG5):c.1080+15C>T
|
|
|
NM_020631.6(PLEKHG5):c.1080+16G>A
|
|
|
NM_020631.6(PLEKHG5):c.1080+16G>C
|
|
|
NM_020631.6(PLEKHG5):c.1080+16G>T
|
|
|
NM_020631.6(PLEKHG5):c.1080+17C>T
|
|
|
NM_020631.6(PLEKHG5):c.1080+18T>A
|
|
|
NM_020631.6(PLEKHG5):c.1080+5G>T
|
rs1644623669
|
|
NM_020631.6(PLEKHG5):c.1081-11T>C
|
|
|
NM_020631.6(PLEKHG5):c.1081-12C>G
|
|
|
NM_020631.6(PLEKHG5):c.1081-8T>C
|
|
|
NM_020631.6(PLEKHG5):c.1086C>G (p.Phe362Leu)
|
|
|
NM_020631.6(PLEKHG5):c.1098C>G (p.Leu366=)
|
rs1553174372
|
|
NM_020631.6(PLEKHG5):c.1099C>T (p.Leu367=)
|
|
|
NM_020631.6(PLEKHG5):c.1111G>A (p.Glu371Lys)
|
rs2148585629
|
|
NM_020631.6(PLEKHG5):c.1112A>C (p.Glu371Ala)
|
rs1569861657
|
|
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu)
|
rs1644599017
|
|
NM_020631.6(PLEKHG5):c.111G>C (p.Leu37Phe)
|
rs1244644253
|
|
NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)
|
|
|
NM_020631.6(PLEKHG5):c.112GAG[8] (p.Glu43_Ser44insGluGlu)
|
rs760139855
|
|
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu43_Ser44insGluGluGlu)
|
rs760139855
|
|
NM_020631.6(PLEKHG5):c.1131+10G>A
|
|
|
NM_020631.6(PLEKHG5):c.1131+15G>A
|
|
|
NM_020631.6(PLEKHG5):c.1131+18G>T
|
|
|
NM_020631.6(PLEKHG5):c.1131+18_1131+34del
|
|
|
NM_020631.6(PLEKHG5):c.1131+19G>A
|
rs746822140
|
|
NM_020631.6(PLEKHG5):c.1131+19G>C
|
|
|
NM_020631.6(PLEKHG5):c.1132-15dup
|
|
|
NM_020631.6(PLEKHG5):c.1132-1G>T
|
rs2148585199
|
|
NM_020631.6(PLEKHG5):c.1132-20G>C
|
|
|
NM_020631.6(PLEKHG5):c.1132-3del
|
|
|
NM_020631.6(PLEKHG5):c.1132-6G>C
|
rs1569860714
|
|
NM_020631.6(PLEKHG5):c.1132-7C>A
|
|
|
NM_020631.6(PLEKHG5):c.1145G>T (p.Arg382Leu)
|
rs1020039192
|
|
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs)
|
rs1644591704
|
|
NM_020631.6(PLEKHG5):c.1161C>G (p.Ile387Met)
|
rs1644590923
|
|
NM_020631.6(PLEKHG5):c.1162C>T (p.Pro388Ser)
|
rs1644590851
|
|
NM_020631.6(PLEKHG5):c.1163C>G (p.Pro388Arg)
|
rs746094917
|
|
NM_020631.6(PLEKHG5):c.1166A>T (p.Glu389Val)
|
|
|
NM_020631.6(PLEKHG5):c.1170C>A (p.Ile390=)
|
|
|
NM_020631.6(PLEKHG5):c.1173G>T (p.Ala391=)
|
rs1224927053
|
|
NM_020631.6(PLEKHG5):c.1200C>T (p.Ser400=)
|
|
|
NM_020631.6(PLEKHG5):c.1209G>T (p.Ala403=)
|
|
|
NM_020631.6(PLEKHG5):c.1215G>A (p.Val405=)
|
rs757671338
|
|
NM_020631.6(PLEKHG5):c.1215G>C (p.Val405=)
|
|
|
NM_020631.6(PLEKHG5):c.1218G>A (p.Leu406=)
|
|
|
NM_020631.6(PLEKHG5):c.1230G>C (p.Arg410=)
|
|
|
NM_020631.6(PLEKHG5):c.1248A>G (p.Leu416=)
|
|
|
NM_020631.6(PLEKHG5):c.1251G>A (p.Gln417=)
|
|
|
NM_020631.6(PLEKHG5):c.1251G>T (p.Gln417His)
|
rs568915094
|
|
NM_020631.6(PLEKHG5):c.1256G>A (p.Gly419Glu)
|
rs768648425
|
|
NM_020631.6(PLEKHG5):c.1258del (p.Asp420fs)
|
|
|
NM_020631.6(PLEKHG5):c.1263C>T (p.Phe421=)
|
|
|
NM_020631.6(PLEKHG5):c.1266C>T (p.Leu422=)
|
|
|
NM_020631.6(PLEKHG5):c.1271G>C (p.Gly424Ala)
|
rs1209779631
|
|
NM_020631.6(PLEKHG5):c.1278G>A (p.Lys426=)
|
|
|
NM_020631.6(PLEKHG5):c.1281+14C>T
|
|
|
NM_020631.6(PLEKHG5):c.1281+19G>T
|
|
|
NM_020631.6(PLEKHG5):c.1281+19_1281+30del
|
|
|
NM_020631.6(PLEKHG5):c.1281+8C>G
|
|
|
NM_020631.6(PLEKHG5):c.1281+9G>A
|
|
|
NM_020631.6(PLEKHG5):c.1282-18T>G
|
|
|
NM_020631.6(PLEKHG5):c.1282-19_1282-18insG
|
|
|
NM_020631.6(PLEKHG5):c.1282-6G>T
|
|
|
NM_020631.6(PLEKHG5):c.1282-7G>A
|
rs780551776
|
|
NM_020631.6(PLEKHG5):c.1282-7G>C
|
|
|
NM_020631.6(PLEKHG5):c.1282-7G>T
|
|
|
NM_020631.6(PLEKHG5):c.1293C>G (p.Leu431=)
|
|
|
NM_020631.6(PLEKHG5):c.1304A>G (p.Tyr435Cys)
|
rs1569857188
|
|
NM_020631.6(PLEKHG5):c.1314C>T (p.Tyr438=)
|
|
|
NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del)
|
|
|
NM_020631.6(PLEKHG5):c.1322AGG[4] (p.Glu443_Gly444insGlu)
|
rs2148583756
|
|
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1334G>T (p.Cys445Phe)
|
|
|
NM_020631.6(PLEKHG5):c.1335C>T (p.Cys445=)
|
|
|
NM_020631.6(PLEKHG5):c.1336A>G (p.Met446Val)
|
|
|
NM_020631.6(PLEKHG5):c.1344C>T (p.Tyr448=)
|
|
|
NM_020631.6(PLEKHG5):c.1346T>C (p.Met449Thr)
|
rs1553174146
|
|
NM_020631.6(PLEKHG5):c.1353C>T (p.Gly451=)
|
|
|
NM_020631.6(PLEKHG5):c.1354C>T (p.Leu452=)
|
|
|
NM_020631.6(PLEKHG5):c.1362C>T (p.Arg454=)
|
rs1644560362
|
|
NM_020631.6(PLEKHG5):c.1374C>T (p.Leu458=)
|
rs1346162495
|
|
NM_020631.6(PLEKHG5):c.1377C>T (p.Phe459=)
|
|
|
NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln)
|
rs1309731055
|
|
NM_020631.6(PLEKHG5):c.1380G>A (p.Arg460=)
|
|
|
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys)
|
rs2148583545
|
|
NM_020631.6(PLEKHG5):c.1392+10_1392+24del
|
rs1064795162
|
|
NM_020631.6(PLEKHG5):c.1392+12C>T
|
|
|
NM_020631.6(PLEKHG5):c.1392+13G>C
|
|
|
NM_020631.6(PLEKHG5):c.1392+14_1392+34del
|
|
|
NM_020631.6(PLEKHG5):c.1392+15G>A
|
rs1190288914
|
|
NM_020631.6(PLEKHG5):c.1392+16C>T
|
|
|
NM_020631.6(PLEKHG5):c.1392+17C>T
|
|
|
NM_020631.6(PLEKHG5):c.1392+8C>T
|
rs771832632
|
|
NM_020631.6(PLEKHG5):c.1392+9G>C
|
|
|
NM_020631.6(PLEKHG5):c.1393-11C>T
|
|
|
NM_020631.6(PLEKHG5):c.1393-14C>T
|
|
|
NM_020631.6(PLEKHG5):c.1393-15A>G
|
|
|
NM_020631.6(PLEKHG5):c.1393-22dup
|
rs111312565
|
|
NM_020631.6(PLEKHG5):c.1393-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.1393-4G>A
|
|
|
NM_020631.6(PLEKHG5):c.1393-6C>A
|
|
|
NM_020631.6(PLEKHG5):c.1393-8dup
|
|
|
NM_020631.6(PLEKHG5):c.1393-9C>A
|
|
|
NM_020631.6(PLEKHG5):c.1393-9C>G
|
|
|
NM_020631.6(PLEKHG5):c.1396G>A (p.Ala466Thr)
|
|
|
NM_020631.6(PLEKHG5):c.1396G>C (p.Ala466Pro)
|
rs757292650
|
|
NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)
|
|
|
NM_020631.6(PLEKHG5):c.1407C>T (p.His469=)
|
|
|
NM_020631.6(PLEKHG5):c.1412A>G (p.Gln471Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1415G>A (p.Cys472Tyr)
|
rs2148583006
|
|
NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter)
|
rs1435710212
|
|
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met)
|
rs1644551354
|
|
NM_020631.6(PLEKHG5):c.1423C>T (p.Leu475=)
|
rs2148582975
|
|
NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn)
|
rs1243221708
|
|
NM_020631.6(PLEKHG5):c.1434C>T (p.Ser478=)
|
|
|
NM_020631.6(PLEKHG5):c.1435G>A (p.Asp479Asn)
|
rs2148582918
|
|
NM_020631.6(PLEKHG5):c.1438A>C (p.Met480Leu)
|
rs1441260635
|
|
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs)
|
rs1644550472
|
|
NM_020631.6(PLEKHG5):c.1439T>G (p.Met480Arg)
|
rs2148582901
|
|
NM_020631.6(PLEKHG5):c.1448A>T (p.Lys483Ile)
|
|
|
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs)
|
rs1644549927
|
|
NM_020631.6(PLEKHG5):c.1457A>G (p.Gln486Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1458G>A (p.Gln486=)
|
|
|
NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met)
|
rs534760199
|
|
NM_020631.6(PLEKHG5):c.1470G>T (p.Lys490Asn)
|
rs2148582809
|
|
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn)
|
rs1644549269
|
|
NM_020631.6(PLEKHG5):c.1476G>A (p.Pro492=)
|
|
|
NM_020631.6(PLEKHG5):c.1476G>T (p.Pro492=)
|
|
|
NM_020631.6(PLEKHG5):c.147A>G (p.Lys49=)
|
|
|
NM_020631.6(PLEKHG5):c.149+13T>C
|
|
|
NM_020631.6(PLEKHG5):c.149+13T>G
|
|
|
NM_020631.6(PLEKHG5):c.149+20G>A
|
|
|
NM_020631.6(PLEKHG5):c.1495C>G (p.Leu499Val)
|
rs1064796900
|
|
NM_020631.6(PLEKHG5):c.1498A>G (p.Arg500Gly)
|
|
|
NM_020631.6(PLEKHG5):c.150-11C>T
|
|
|
NM_020631.6(PLEKHG5):c.150-12G>A
|
|
|
NM_020631.6(PLEKHG5):c.150-15_150-13del
|
rs773870699
|
|
NM_020631.6(PLEKHG5):c.150-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.150-19C>T
|
|
|
NM_020631.6(PLEKHG5):c.150-8C>T
|
|
|
NM_020631.6(PLEKHG5):c.1500G>C (p.Arg500Ser)
|
|
|
NM_020631.6(PLEKHG5):c.1506C>A (p.Thr502=)
|
|
|
NM_020631.6(PLEKHG5):c.1513C>T (p.Pro505Ser)
|
rs530846615
|
|
NM_020631.6(PLEKHG5):c.1515G>A (p.Pro505=)
|
|
|
NM_020631.6(PLEKHG5):c.1518C>T (p.Arg506=)
|
|
|
NM_020631.6(PLEKHG5):c.1519G>A (p.Ala507Thr)
|
rs868002197
|
|
NM_020631.6(PLEKHG5):c.1519G>C (p.Ala507Pro)
|
rs868002197
|
|
NM_020631.6(PLEKHG5):c.1520C>T (p.Ala507Val)
|
rs1464559999
|
|
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr)
|
rs1475922783
|
|
NM_020631.6(PLEKHG5):c.1533C>T (p.Val511=)
|
|
|
NM_020631.6(PLEKHG5):c.1535T>C (p.Val512Ala)
|
|
|
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser)
|
rs1214327374
|
|
NM_020631.6(PLEKHG5):c.1542+10A>G
|
|
|
NM_020631.6(PLEKHG5):c.1542+16A>T
|
|
|
NM_020631.6(PLEKHG5):c.1542+18C>G
|
|
|
NM_020631.6(PLEKHG5):c.1542+18C>T
|
|
|
NM_020631.6(PLEKHG5):c.1542+19G>A
|
|
|
NM_020631.6(PLEKHG5):c.1542+19G>C
|
|
|
NM_020631.6(PLEKHG5):c.1542+1G>C
|
|
|
NM_020631.6(PLEKHG5):c.1542+8T>C
|
|
|
NM_020631.6(PLEKHG5):c.1543-11C>T
|
|
|
NM_020631.6(PLEKHG5):c.1543-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.1543-2A>G
|
|
|
NM_020631.6(PLEKHG5):c.1543-4C>G
|
|
|
NM_020631.6(PLEKHG5):c.1543-4C>T
|
|
|
NM_020631.6(PLEKHG5):c.1543-5C>T
|
rs1281567980
|
|
NM_020631.6(PLEKHG5):c.1543-6C>T
|
|
|
NM_020631.6(PLEKHG5):c.1545C>T (p.Ile515=)
|
rs762389784
|
|
NM_020631.6(PLEKHG5):c.1548C>T (p.Gly516=)
|
|
|
NM_020631.6(PLEKHG5):c.154C>G (p.Arg52Gly)
|
rs777277703
|
|
NM_020631.6(PLEKHG5):c.1551C>T (p.Ser517=)
|
|
|
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu)
|
rs1464358180
|
|
NM_020631.6(PLEKHG5):c.1566C>T (p.Ile522=)
|
|
|
NM_020631.6(PLEKHG5):c.1569C>T (p.His523=)
|
rs967572264
|
|
NM_020631.6(PLEKHG5):c.1570C>T (p.His524Tyr)
|
rs761251191
|
|
NM_020631.6(PLEKHG5):c.1581G>A (p.Ala527=)
|
rs773262365
|
|
NM_020631.6(PLEKHG5):c.1581G>T (p.Ala527=)
|
|
|
NM_020631.6(PLEKHG5):c.1588C>T (p.Arg530Trp)
|
rs1480269028
|
|
NM_020631.6(PLEKHG5):c.1594C>T (p.Arg532Trp)
|
|
|
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)
|
rs1557739505
|
|
NM_020631.6(PLEKHG5):c.15G>A (p.Gly5=)
|
|
|
NM_020631.6(PLEKHG5):c.1602G>A (p.Glu534=)
|
|
|
NM_020631.6(PLEKHG5):c.1617G>A (p.Ala539=)
|
|
|
NM_020631.6(PLEKHG5):c.1617G>C (p.Ala539=)
|
|
|
NM_020631.6(PLEKHG5):c.1620C>T (p.Ala540=)
|
|
|
NM_020631.6(PLEKHG5):c.1623G>A (p.Val541=)
|
|
|
NM_020631.6(PLEKHG5):c.1626G>T (p.Val542=)
|
|
|
NM_020631.6(PLEKHG5):c.1630C>T (p.Arg544Cys)
|
rs1046202834
|
|
NM_020631.6(PLEKHG5):c.1635C>T (p.Ile545=)
|
rs1569851488
|
|
NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1644C>T (p.Tyr548=)
|
|
|
NM_020631.6(PLEKHG5):c.1650G>T (p.Val550=)
|
|
|
NM_020631.6(PLEKHG5):c.1653G>A (p.Val551=)
|
|
|
NM_020631.6(PLEKHG5):c.1659C>T (p.Ser553=)
|
|
|
NM_020631.6(PLEKHG5):c.1668C>G (p.Asp556Glu)
|
|
|
NM_020631.6(PLEKHG5):c.1677C>T (p.Asp559=)
|
|
|
NM_020631.6(PLEKHG5):c.1680+13G>A
|
|
|
NM_020631.6(PLEKHG5):c.1680+17G>A
|
|
|
NM_020631.6(PLEKHG5):c.1680+18C>G
|
|
|
NM_020631.6(PLEKHG5):c.1680+18C>T
|
rs758693239
|
|
NM_020631.6(PLEKHG5):c.1680+1G>T
|
|
|
NM_020631.6(PLEKHG5):c.1680+7G>A
|
|
|
NM_020631.6(PLEKHG5):c.1680+7G>C
|
|
|
NM_020631.6(PLEKHG5):c.1680+7G>T
|
|
|
NM_020631.6(PLEKHG5):c.1681-15G>A
|
|
|
NM_020631.6(PLEKHG5):c.1681-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.1681-17A>G
|
|
|
NM_020631.6(PLEKHG5):c.1681-27_1681-3dup
|
rs748372368
|
|
NM_020631.6(PLEKHG5):c.1681-5C>T
|
|
|
NM_020631.6(PLEKHG5):c.1681-6C>T
|
|
|
NM_020631.6(PLEKHG5):c.1681-8G>A
|
|
|
NM_020631.6(PLEKHG5):c.1681-9C>G
|
rs373133607
|
|
NM_020631.6(PLEKHG5):c.1681-9C>T
|
rs373133607
|
|
NM_020631.6(PLEKHG5):c.1686G>C (p.Leu562=)
|
rs1416853157
|
|
NM_020631.6(PLEKHG5):c.1703T>C (p.Leu568Pro)
|
rs759670081
|
|
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=)
|
rs1644528365
|
|
NM_020631.6(PLEKHG5):c.1716G>A (p.Ala572=)
|
|
|
NM_020631.6(PLEKHG5):c.1725T>A (p.Pro575=)
|
rs1644527800
|
|
NM_020631.6(PLEKHG5):c.1728C>T (p.Gly576=)
|
|
|
NM_020631.6(PLEKHG5):c.1728dup (p.Ala577fs)
|
|
|
NM_020631.6(PLEKHG5):c.1734C>T (p.Ser578=)
|
|
|
NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)
|
|
|
NM_020631.6(PLEKHG5):c.1737G>A (p.Pro579=)
|
|
|
NM_020631.6(PLEKHG5):c.1737G>T (p.Pro579=)
|
|
|
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter)
|
rs760122001
|
|
NM_020631.6(PLEKHG5):c.1743G>A (p.Glu581=)
|
rs1401679164
|
|
NM_020631.6(PLEKHG5):c.1747C>G (p.Arg583Gly)
|
rs766560337
|
|
NM_020631.6(PLEKHG5):c.1752G>A (p.Gln584=)
|
|
|
NM_020631.6(PLEKHG5):c.1768A>G (p.Ser590Gly)
|
|
|
NM_020631.6(PLEKHG5):c.1776G>A (p.Arg592=)
|
|
|
NM_020631.6(PLEKHG5):c.1782G>A (p.Lys594=)
|
rs762805368
|
|
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)
|
rs1644525008
|
|
NM_020631.6(PLEKHG5):c.1800+10G>A
|
|
|
NM_020631.6(PLEKHG5):c.1800+16C>A
|
|
|
NM_020631.6(PLEKHG5):c.1800+19C>T
|
|
|
NM_020631.6(PLEKHG5):c.1801-10_1801-8del
|
|
|
NM_020631.6(PLEKHG5):c.1801-15C>G
|
|
|
NM_020631.6(PLEKHG5):c.1801-15C>T
|
|
|
NM_020631.6(PLEKHG5):c.1801-15del
|
rs750991690
|
|
NM_020631.6(PLEKHG5):c.1801-15dup
|
|
|
NM_020631.6(PLEKHG5):c.1801-16C>A
|
rs369955570
|
|
NM_020631.6(PLEKHG5):c.1801-16C>G
|
|
|
NM_020631.6(PLEKHG5):c.1801-16C>T
|
rs369955570
|
|
NM_020631.6(PLEKHG5):c.1801-17C>A
|
|
|
NM_020631.6(PLEKHG5):c.1801-17C>G
|
rs373357833
|
|
NM_020631.6(PLEKHG5):c.1801-17C>T
|
|
|
NM_020631.6(PLEKHG5):c.1801-18C>G
|
|
|
NM_020631.6(PLEKHG5):c.1801-20C>G
|
|
|
NM_020631.6(PLEKHG5):c.1801-2A>G
|
|
|
NM_020631.6(PLEKHG5):c.1801A>G (p.Met601Val)
|
rs1156760922
|
|
NM_020631.6(PLEKHG5):c.1804G>A (p.Asp602Asn)
|
rs1557738049
|
|
NM_020631.6(PLEKHG5):c.1809G>A (p.Val603=)
|
|
|
NM_020631.6(PLEKHG5):c.180C>T (p.Ser60=)
|
|
|
NM_020631.6(PLEKHG5):c.1812C>T (p.Tyr604=)
|
|
|
NM_020631.6(PLEKHG5):c.1815C>T (p.Cys605=)
|
|
|
NM_020631.6(PLEKHG5):c.1827G>A (p.Thr609=)
|
|
|
NM_020631.6(PLEKHG5):c.1834C>T (p.Leu612=)
|
|
|
NM_020631.6(PLEKHG5):c.1840G>C (p.Val614Leu)
|
rs752514480
|
|
NM_020631.6(PLEKHG5):c.1842G>A (p.Val614=)
|
|
|
NM_020631.6(PLEKHG5):c.1845C>T (p.Thr615=)
|
|
|
NM_020631.6(PLEKHG5):c.1860G>A (p.Lys620=)
|
|
|
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr)
|
rs759538158
|
|
NM_020631.6(PLEKHG5):c.1869G>A (p.Arg623=)
|
|
|
NM_020631.6(PLEKHG5):c.1872C>G (p.Thr624=)
|
|
|
NM_020631.6(PLEKHG5):c.1878C>T (p.Val626=)
|
|
|
NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1884G>A (p.Arg628=)
|
|
|
NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His)
|
rs1644506661
|
|
NM_020631.6(PLEKHG5):c.1893G>A (p.Leu631=)
|
rs2148579764
|
|
NM_020631.6(PLEKHG5):c.1902C>A (p.Asp634Glu)
|
|
|
NM_020631.6(PLEKHG5):c.1904A>G (p.Lys635Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1933+10C>A
|
|
|
NM_020631.6(PLEKHG5):c.1933+12T>C
|
rs2148579594
|
|
NM_020631.6(PLEKHG5):c.1933+14G>T
|
|
|
NM_020631.6(PLEKHG5):c.1933+19C>G
|
|
|
NM_020631.6(PLEKHG5):c.1933+1del
|
|
|
NM_020631.6(PLEKHG5):c.1933+9C>T
|
|
|
NM_020631.6(PLEKHG5):c.1934-17G>T
|
|
|
NM_020631.6(PLEKHG5):c.1934-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.1934-9C>G
|
rs373933352
|
|
NM_020631.6(PLEKHG5):c.1935G>T (p.Gly645=)
|
rs147140763
|
|
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser)
|
rs63750315
|
|
NM_020631.6(PLEKHG5):c.1955T>C (p.Leu652Pro)
|
rs1644500916
|
|
NM_020631.6(PLEKHG5):c.1966C>T (p.His656Tyr)
|
rs1644500686
|
|
NM_020631.6(PLEKHG5):c.1979G>A (p.Gly660Glu)
|
rs1460646554
|
|
NM_020631.6(PLEKHG5):c.1989G>A (p.Thr663=)
|
|
|
NM_020631.6(PLEKHG5):c.1998C>T (p.Ala666=)
|
|
|
NM_020631.6(PLEKHG5):c.1999A>G (p.Ser667Gly)
|
|
|
NM_020631.6(PLEKHG5):c.1A>G (p.Met1Val)
|
|
|
NM_020631.6(PLEKHG5):c.2001_2002inv (p.Gly668Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2040C>T (p.Tyr680=)
|
|
|
NM_020631.6(PLEKHG5):c.2049+11A>G
|
rs1557737418
|
|
NM_020631.6(PLEKHG5):c.2049+7G>A
|
|
|
NM_020631.6(PLEKHG5):c.2049+8C>G
|
|
|
NM_020631.6(PLEKHG5):c.2050-10T>A
|
|
|
NM_020631.6(PLEKHG5):c.2050-11C>G
|
|
|
NM_020631.6(PLEKHG5):c.2050-12C>T
|
|
|
NM_020631.6(PLEKHG5):c.2050-14A>G
|
|
|
NM_020631.6(PLEKHG5):c.2050-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.2050-9T>G
|
|
|
NM_020631.6(PLEKHG5):c.2052C>T (p.Asn684=)
|
|
|
NM_020631.6(PLEKHG5):c.2056C>T (p.Leu686=)
|
rs1569842648
|
|
NM_020631.6(PLEKHG5):c.2060A>T (p.Gln687Leu)
|
rs1046289350
|
|
NM_020631.6(PLEKHG5):c.2066T>G (p.Leu689Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys)
|
rs149089640
|
|
NM_020631.6(PLEKHG5):c.2074_2075del (p.Gln692fs)
|
rs2148578668
|
|
NM_020631.6(PLEKHG5):c.2076G>A (p.Gln692=)
|
|
|
NM_020631.6(PLEKHG5):c.207G>A (p.Thr69=)
|
|
|
NM_020631.6(PLEKHG5):c.2088C>T (p.Gly696=)
|
|
|
NM_020631.6(PLEKHG5):c.210+14C>G
|
|
|
NM_020631.6(PLEKHG5):c.210+14dup
|
|
|
NM_020631.6(PLEKHG5):c.210+15A>G
|
|
|
NM_020631.6(PLEKHG5):c.210+9C>T
|
|
|
NM_020631.6(PLEKHG5):c.211-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.211-17C>T
|
|
|
NM_020631.6(PLEKHG5):c.211-22CCCACC[3]
|
|
|
NM_020631.6(PLEKHG5):c.211-23_211-14dup
|
|
|
NM_020631.6(PLEKHG5):c.211-4C>G
|
|
|
NM_020631.6(PLEKHG5):c.211-5C>A
|
|
|
NM_020631.6(PLEKHG5):c.211-5C>T
|
|
|
NM_020631.6(PLEKHG5):c.211-7C>A
|
|
|
NM_020631.6(PLEKHG5):c.2112G>A (p.Leu704=)
|
|
|
NM_020631.6(PLEKHG5):c.2117A>G (p.Glu706Gly)
|
|
|
NM_020631.6(PLEKHG5):c.2130G>A (p.Glu710=)
|
|
|
NM_020631.6(PLEKHG5):c.2132A>G (p.Gln711Arg)
|
rs886046500
|
|
NM_020631.6(PLEKHG5):c.2132del (p.Gln711fs)
|
|
|
NM_020631.6(PLEKHG5):c.2138A>C (p.Glu713Ala)
|
rs1241363420
|
|
NM_020631.6(PLEKHG5):c.2139G>A (p.Glu713=)
|
|
|
NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu)
|
rs1553173393
|
|
NM_020631.6(PLEKHG5):c.2142_2156del (p.Glu719_Glu723del)
|
|
|
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2148G>A (p.Glu716=)
|
rs1569841449
|
|
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter)
|
rs184242303
|
|
NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)
|
|
|
NM_020631.6(PLEKHG5):c.2151G>A (p.Glu717=)
|
|
|
NM_020631.6(PLEKHG5):c.2151G>C (p.Glu717Asp)
|
rs761945225
|
|
NM_020631.6(PLEKHG5):c.2154G>A (p.Glu718=)
|
rs1410366410
|
|
NM_020631.6(PLEKHG5):c.2156_2157insAGA (p.Glu723_Gly724insGlu)
|
rs1553173388
|
|
NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
|
|
|
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys)
|
rs1020150780
|
|
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp)
|
rs62639695
|
|
NM_020631.6(PLEKHG5):c.2163delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)
|
|
|
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs)
|
rs201182604
|
|
NM_020631.6(PLEKHG5):c.2165_2170dup (p.Glu723_Gly724insGluGlu)
|
rs960528373
|
|
NM_020631.6(PLEKHG5):c.2166_2167insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu722_Glu723insGlnGluGluGluGluGluGluGluGluGluGluGlu)
|
|
|
NM_020631.6(PLEKHG5):c.2180G>T (p.Ser727Ile)
|
rs770641755
|
|
NM_020631.6(PLEKHG5):c.2199C>T (p.Ser733=)
|
|
|
NM_020631.6(PLEKHG5):c.2208C>G (p.Thr736=)
|
|
|
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val)
|
rs1644484109
|
|
NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2217G>A (p.Arg739=)
|
|
|
NM_020631.6(PLEKHG5):c.2227G>C (p.Gly743Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala)
|
rs1245961862
|
|
NM_020631.6(PLEKHG5):c.2229C>T (p.Gly743=)
|
|
|
NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)
|
|
|
NM_020631.6(PLEKHG5):c.2232C>T (p.Ser744=)
|
|
|
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr)
|
rs756501907
|
|
NM_020631.6(PLEKHG5):c.2234C>G (p.Pro745Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2236G>A (p.Asp746Asn)
|
|
|
NM_020631.6(PLEKHG5):c.2241T>C (p.Ser747=)
|
|
|
NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2244G>A (p.Gln748=)
|
rs1569839599
|
|
NM_020631.6(PLEKHG5):c.2244G>C (p.Gln748His)
|
rs1569839599
|
|
NM_020631.6(PLEKHG5):c.2249+12C>T
|
|
|
NM_020631.6(PLEKHG5):c.2249+14T>C
|
|
|
NM_020631.6(PLEKHG5):c.2249+14T>G
|
|
|
NM_020631.6(PLEKHG5):c.2249+16A>G
|
rs2148577839
|
|
NM_020631.6(PLEKHG5):c.2249+1G>A
|
|
|
NM_020631.6(PLEKHG5):c.2250-12C>G
|
|
|
NM_020631.6(PLEKHG5):c.2250-15C>T
|
|
|
NM_020631.6(PLEKHG5):c.2250-18C>G
|
|
|
NM_020631.6(PLEKHG5):c.2250-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.2252C>T (p.Ala751Val)
|
|
|
NM_020631.6(PLEKHG5):c.2253C>T (p.Ala751=)
|
|
|
NM_020631.6(PLEKHG5):c.2265C>A (p.Ser755=)
|
|
|
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2274C>A (p.Thr758=)
|
|
|
NM_020631.6(PLEKHG5):c.2279C>T (p.Ala760Val)
|
rs1569836518
|
|
NM_020631.6(PLEKHG5):c.2280C>T (p.Ala760=)
|
rs2148576793
|
|
NM_020631.6(PLEKHG5):c.2292A>G (p.Val764=)
|
|
|
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln)
|
rs532817130
|
|
NM_020631.6(PLEKHG5):c.2301G>C (p.Gly767=)
|
|
|
NM_020631.6(PLEKHG5):c.2312C>A (p.Ser771Tyr)
|
rs1644465940
|
|
NM_020631.6(PLEKHG5):c.2316C>A (p.Ser772=)
|
|
|
NM_020631.6(PLEKHG5):c.2319C>G (p.Pro773=)
|
rs80031446
|
|
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=)
|
rs80031446
|
|
NM_020631.6(PLEKHG5):c.2332G>T (p.Gly778Cys)
|
rs768087057
|
|
NM_020631.6(PLEKHG5):c.2334T>G (p.Gly778=)
|
|
|
NM_020631.6(PLEKHG5):c.2352T>G (p.Ser784=)
|
rs2148576624
|
|
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs)
|
rs759212541
|
|
NM_020631.6(PLEKHG5):c.2372C>A (p.Thr791Asn)
|
|
|
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
NM_020631.6(PLEKHG5):c.2381C>T (p.Ser794Leu)
|
rs2148576538
|
|
NM_020631.6(PLEKHG5):c.2397C>T (p.Thr799=)
|
|
|
NM_020631.6(PLEKHG5):c.2400T>C (p.Ser800=)
|
|
|
NM_020631.6(PLEKHG5):c.2410C>T (p.Pro804Ser)
|
rs886046499
|
|
NM_020631.6(PLEKHG5):c.2418T>C (p.Gly806=)
|
|
|
NM_020631.6(PLEKHG5):c.2421G>C (p.Pro807=)
|
|
|
NM_020631.6(PLEKHG5):c.2428G>T (p.Gly810Cys)
|
rs76625876
|
|
NM_020631.6(PLEKHG5):c.2439C>T (p.Cys813=)
|
|
|
NM_020631.6(PLEKHG5):c.2442C>T (p.Ser814=)
|
|
|
NM_020631.6(PLEKHG5):c.2451T>C (p.Ser817=)
|
|
|
NM_020631.6(PLEKHG5):c.2453C>T (p.Ala818Val)
|
|
|
NM_020631.6(PLEKHG5):c.2454C>G (p.Ala818=)
|
|
|
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.2463C>G (p.Thr821=)
|
|
|
NM_020631.6(PLEKHG5):c.2464C>A (p.Leu822Ile)
|
|
|
NM_020631.6(PLEKHG5):c.2471del (p.Pro824fs)
|
|
|
NM_020631.6(PLEKHG5):c.2472A>G (p.Pro824=)
|
|
|
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala)
|
rs779264802
|
|
NM_020631.6(PLEKHG5):c.2489T>C (p.Phe830Ser)
|
rs764007395
|
|
NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)
|
|
|
NM_020631.6(PLEKHG5):c.2496C>A (p.Ala832=)
|
|
|
NM_020631.6(PLEKHG5):c.2496C>T (p.Ala832=)
|
|
|
NM_020631.6(PLEKHG5):c.249G>C (p.Leu83=)
|
|
|
NM_020631.6(PLEKHG5):c.2502C>T (p.Gly834=)
|
|
|
NM_020631.6(PLEKHG5):c.2503_2510del (p.Pro835fs)
|
|
|
NM_020631.6(PLEKHG5):c.2505A>G (p.Pro835=)
|
|
|
NM_020631.6(PLEKHG5):c.2513A>G (p.Glu838Gly)
|
rs1287801386
|
|
NM_020631.6(PLEKHG5):c.2520G>A (p.Val840=)
|
rs2148576118
|
|
NM_020631.6(PLEKHG5):c.2537C>A (p.Ser846Tyr)
|
rs1180411078
|
|
NM_020631.6(PLEKHG5):c.2538C>A (p.Ser846=)
|
rs776995250
|
|
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser)
|
rs1390984037
|
|
NM_020631.6(PLEKHG5):c.2540del (p.Pro847fs)
|
|
|
NM_020631.6(PLEKHG5):c.2553C>T (p.Ser851=)
|
rs2148575994
|
|
NM_020631.6(PLEKHG5):c.2589T>C (p.Pro863=)
|
|
|
NM_020631.6(PLEKHG5):c.2596C>T (p.Leu866=)
|
|
|
NM_020631.6(PLEKHG5):c.2612C>T (p.Pro871Leu)
|
rs886046498
|
|
NM_020631.6(PLEKHG5):c.2622C>G (p.Leu874=)
|
|
|
NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2646C>T (p.Leu882=)
|
|
|
NM_020631.6(PLEKHG5):c.2652G>T (p.Gln884His)
|
|
|
NM_020631.6(PLEKHG5):c.2658G>A (p.Leu886=)
|
|
|
NM_020631.6(PLEKHG5):c.265A>G (p.Thr89Ala)
|
rs981552118
|
|
NM_020631.6(PLEKHG5):c.2664G>T (p.Gly888=)
|
rs1569832075
|
|
NM_020631.6(PLEKHG5):c.2665del (p.Ala889fs)
|
|
|
NM_020631.6(PLEKHG5):c.2672C>T (p.Thr891Ile)
|
rs2148575479
|
|
NM_020631.6(PLEKHG5):c.2679G>A (p.Gly893=)
|
|
|
NM_020631.6(PLEKHG5):c.2691C>G (p.Ala897=)
|
rs755539639
|
|
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly)
|
rs1247695536
|
|
NM_020631.6(PLEKHG5):c.2721G>A (p.Leu907=)
|
|
|
NM_020631.6(PLEKHG5):c.2733C>A (p.Ala911=)
|
|
|
NM_020631.6(PLEKHG5):c.2733C>T (p.Ala911=)
|
|
|
NM_020631.6(PLEKHG5):c.2736A>C (p.Pro912=)
|
|
|
NM_020631.6(PLEKHG5):c.273C>A (p.Ile91=)
|
|
|
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys)
|
rs1644446616
|
|
NM_020631.6(PLEKHG5):c.2745G>A (p.Arg915=)
|
|
|
NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu)
|
rs910647086
|
|
NM_020631.6(PLEKHG5):c.2751G>C (p.Gln917His)
|
|
|
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del)
|
rs536097668
|
|
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2789G>T (p.Arg930Leu)
|
rs376237905
|
|
NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg)
|
rs1644443857
|
|
NM_020631.6(PLEKHG5):c.2793G>A (p.Gly931=)
|
|
|
NM_020631.6(PLEKHG5):c.2796C>G (p.Ala932=)
|
|
|
NM_020631.6(PLEKHG5):c.2799T>G (p.Pro933=)
|
rs779825659
|
|
NM_020631.6(PLEKHG5):c.27C>T (p.Phe9=)
|
|
|
NM_020631.6(PLEKHG5):c.2827G>A (p.Gly943Ser)
|
rs114619322
|
|
NM_020631.6(PLEKHG5):c.2838C>G (p.Ala946=)
|
rs573561537
|
|
NM_020631.6(PLEKHG5):c.2868G>A (p.Arg956=)
|
|
|
NM_020631.6(PLEKHG5):c.286AAG[2] (p.Lys98del)
|
rs781153386
|
|
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg)
|
rs1320979244
|
|
NM_020631.6(PLEKHG5):c.2880_2881del (p.Pro961fs)
|
|
|
NM_020631.6(PLEKHG5):c.2883C>T (p.Pro961=)
|
|
|
NM_020631.6(PLEKHG5):c.2886G>A (p.Ser962=)
|
rs749015188
|
|
NM_020631.6(PLEKHG5):c.2887G>T (p.Gly963Trp)
|
rs780100460
|
|
NM_020631.6(PLEKHG5):c.2888G>A (p.Gly963Glu)
|
rs2148574527
|
|
NM_020631.6(PLEKHG5):c.288G>T (p.Lys96Asn)
|
rs575792064
|
|
NM_020631.6(PLEKHG5):c.2893_2915del (p.Ser965fs)
|
|
|
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe)
|
rs1337483830
|
|
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
|
|
|
NM_020631.6(PLEKHG5):c.2915C>G (p.Pro972Arg)
|
rs777368688
|
|
NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu)
|
rs777368688
|
|
NM_020631.6(PLEKHG5):c.291G>A (p.Lys97=)
|
|
|
NM_020631.6(PLEKHG5):c.2924G>A (p.Gly975Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2925G>A (p.Gly975=)
|
|
|
NM_020631.6(PLEKHG5):c.2944A>G (p.Lys982Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)
|
|
|
NM_020631.6(PLEKHG5):c.2956G>A (p.Ala986Thr)
|
|
|
NM_020631.6(PLEKHG5):c.2958C>T (p.Ala986=)
|
|
|
NM_020631.6(PLEKHG5):c.2972T>C (p.Ile991Thr)
|
|
|
NM_020631.6(PLEKHG5):c.2975G>A (p.Arg992Lys)
|
rs750720112
|
|
NM_020631.6(PLEKHG5):c.2976G>A (p.Arg992=)
|
|
|
NM_020631.6(PLEKHG5):c.2982C>T (p.Thr994=)
|
|
|
NM_020631.6(PLEKHG5):c.2983C>T (p.Leu995=)
|
|
|
NM_020631.6(PLEKHG5):c.2986C>T (p.Leu996=)
|
rs1249333557
|
|
NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro)
|
rs2148574076
|
|
NM_020631.6(PLEKHG5):c.298C>T (p.Leu100=)
|
rs2148592587
|
|
NM_020631.6(PLEKHG5):c.2994C>T (p.Asn998=)
|
|
|
NM_020631.6(PLEKHG5):c.2T>C (p.Met1Thr)
|
|
|
NM_020631.6(PLEKHG5):c.3000G>A (p.Thr1000=)
|
rs770466036
|
|
NM_020631.6(PLEKHG5):c.3003C>T (p.Leu1001=)
|
|
|
NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val)
|
|
|
NM_020631.6(PLEKHG5):c.3011+11T>C
|
|
|
NM_020631.6(PLEKHG5):c.3011+12G>A
|
|
|
NM_020631.6(PLEKHG5):c.3011+15C>A
|
|
|
NM_020631.6(PLEKHG5):c.3011+17G>A
|
|
|
NM_020631.6(PLEKHG5):c.3011+19G>A
|
|
|
NM_020631.6(PLEKHG5):c.3011+6T>C
|
rs1569827097
|
|
NM_020631.6(PLEKHG5):c.3012-10C>T
|
|
|
NM_020631.6(PLEKHG5):c.3012-11C>G
|
|
|
NM_020631.6(PLEKHG5):c.3012-15C>G
|
|
|
NM_020631.6(PLEKHG5):c.3012-17C>T
|
|
|
NM_020631.6(PLEKHG5):c.3012-17_3012-6del
|
rs774593947
|
|
NM_020631.6(PLEKHG5):c.3012-18C>T
|
|
|
NM_020631.6(PLEKHG5):c.3012-7C>T
|
|
|
NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)
|
|
|
NM_020631.6(PLEKHG5):c.302+10_302+11delinsTT
|
rs1553175406
|
|
NM_020631.6(PLEKHG5):c.302+16del
|
|
|
NM_020631.6(PLEKHG5):c.302+6G>A
|
rs1553175409
|
|
NM_020631.6(PLEKHG5):c.303-12T>C
|
|
|
NM_020631.6(PLEKHG5):c.303-13G>C
|
|
|
NM_020631.6(PLEKHG5):c.303-16C>T
|
rs2148591484
|
|
NM_020631.6(PLEKHG5):c.303-19C>G
|
|
|
NM_020631.6(PLEKHG5):c.303-19C>T
|
|
|
NM_020631.6(PLEKHG5):c.303-4G>A
|
rs746297437
|
|
NM_020631.6(PLEKHG5):c.303-7G>C
|
rs1164371404
|
|
NM_020631.6(PLEKHG5):c.307G>T (p.Val103Leu)
|
rs141032388
|
|
NM_020631.6(PLEKHG5):c.318T>C (p.Pro106=)
|
|
|
NM_020631.6(PLEKHG5):c.333G>A (p.Lys111=)
|
|
|
NM_020631.6(PLEKHG5):c.341C>T (p.Ala114Val)
|
|
|
NM_020631.6(PLEKHG5):c.342G>A (p.Ala114=)
|
|
|
NM_020631.6(PLEKHG5):c.343C>T (p.Leu115=)
|
|
|
NM_020631.6(PLEKHG5):c.34C>T (p.Pro12Ser)
|
rs140687324
|
|
NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)
|
|
|
NM_020631.6(PLEKHG5):c.363C>T (p.Tyr121=)
|
|
|
NM_020631.6(PLEKHG5):c.365_378del (p.Leu122fs)
|
|
|
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn)
|
rs759645488
|
|
NM_020631.6(PLEKHG5):c.369C>T (p.Asp123=)
|
|
|
NM_020631.6(PLEKHG5):c.36C>A (p.Pro12=)
|
rs2148598115
|
|
NM_020631.6(PLEKHG5):c.372G>A (p.Gln124=)
|
|
|
NM_020631.6(PLEKHG5):c.379A>G (p.Thr127Ala)
|
rs2148591381
|
|
NM_020631.6(PLEKHG5):c.386del (p.Leu129fs)
|
rs2148591365
|
|
NM_020631.6(PLEKHG5):c.38C>T (p.Pro13Leu)
|
rs776271244
|
|
NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)
|
|
|
NM_020631.6(PLEKHG5):c.39A>G (p.Pro13=)
|
rs2148598086
|
|
NM_020631.6(PLEKHG5):c.407A>G (p.Tyr136Cys)
|
rs986133840
|
|
NM_020631.6(PLEKHG5):c.412T>C (p.Phe138Leu)
|
rs1302453044
|
|
NM_020631.6(PLEKHG5):c.415G>A (p.Gly139Arg)
|
rs769529781
|
|
NM_020631.6(PLEKHG5):c.415G>C (p.Gly139Arg)
|
rs769529781
|
|
NM_020631.6(PLEKHG5):c.417G>A (p.Gly139=)
|
|
|
NM_020631.6(PLEKHG5):c.420A>T (p.Gly140=)
|
|
|
NM_020631.6(PLEKHG5):c.426C>T (p.Tyr142=)
|
|
|
NM_020631.6(PLEKHG5):c.43+12C>T
|
|
|
NM_020631.6(PLEKHG5):c.43+13G>C
|
|
|
NM_020631.6(PLEKHG5):c.43+14_43+20del
|
rs527883968
|
|
NM_020631.6(PLEKHG5):c.43+19C>T
|
|
|
NM_020631.6(PLEKHG5):c.43+20G>A
|
rs200779049
|
|
NM_020631.6(PLEKHG5):c.43+7A>G
|
|
|
NM_020631.6(PLEKHG5):c.43+8_43+22del
|
|
|
NM_020631.6(PLEKHG5):c.431G>A (p.Arg144His)
|
rs150152888
|
|
NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu)
|
rs150152888
|
|
NM_020631.6(PLEKHG5):c.439+17G>A
|
|
|
NM_020631.6(PLEKHG5):c.439+8G>A
|
|
|
NM_020631.6(PLEKHG5):c.439+9C>G
|
|
|
NM_020631.6(PLEKHG5):c.44-13G>A
|
|
|
NM_020631.6(PLEKHG5):c.44-5C>T
|
|
|
NM_020631.6(PLEKHG5):c.440-17G>A
|
rs200894921
|
|
NM_020631.6(PLEKHG5):c.440-17G>C
|
|
|
NM_020631.6(PLEKHG5):c.440-18C>T
|
|
|
NM_020631.6(PLEKHG5):c.440-7_440-6inv
|
|
|
NM_020631.6(PLEKHG5):c.440-9C>T
|
rs772633418
|
|
NM_020631.6(PLEKHG5):c.441C>A (p.Ala147=)
|
|
|
NM_020631.6(PLEKHG5):c.441C>T (p.Ala147=)
|
|
|
NM_020631.6(PLEKHG5):c.444A>G (p.Pro148=)
|
|
|
NM_020631.6(PLEKHG5):c.450G>A (p.Lys150=)
|
|
|
NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs)
|
rs1569875704
|
|
NM_020631.6(PLEKHG5):c.454G>A (p.Gly152Arg)
|
|
|
NM_020631.6(PLEKHG5):c.456A>G (p.Gly152=)
|
|
|
NM_020631.6(PLEKHG5):c.479G>A (p.Gly160Asp)
|
|
|
NM_020631.6(PLEKHG5):c.489C>G (p.Asp163Glu)
|
|
|
NM_020631.6(PLEKHG5):c.494A>G (p.Lys165Arg)
|
|
|
NM_020631.6(PLEKHG5):c.495G>C (p.Lys165Asn)
|
rs150772386
|
|
NM_020631.6(PLEKHG5):c.498C>T (p.Ser166=)
|
|
|
NM_020631.6(PLEKHG5):c.4C>T (p.His2Tyr)
|
rs2148598223
|
|
NM_020631.6(PLEKHG5):c.503G>C (p.Ser168Thr)
|
rs1346810555
|
|
NM_020631.6(PLEKHG5):c.509C>A (p.Pro170Gln)
|
rs59117380
|
|
NM_020631.6(PLEKHG5):c.510G>C (p.Pro170=)
|
|
|
NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly)
|
rs372602993
|
|
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp)
|
rs372602993
|
|
NM_020631.6(PLEKHG5):c.521C>T (p.Pro174Leu)
|
rs1374927816
|
|
NM_020631.6(PLEKHG5):c.525T>G (p.Ala175=)
|
|
|
NM_020631.6(PLEKHG5):c.534G>T (p.Gly178=)
|
rs1569875832
|
|
NM_020631.6(PLEKHG5):c.535C>T (p.Pro179Ser)
|
rs1644682762
|
|
NM_020631.6(PLEKHG5):c.537C>A (p.Pro179=)
|
|
|
NM_020631.6(PLEKHG5):c.540C>A (p.Pro180=)
|
|
|
NM_020631.6(PLEKHG5):c.540C>G (p.Pro180=)
|
rs372624847
|
|
NM_020631.6(PLEKHG5):c.540C>T (p.Pro180=)
|
rs372624847
|
|
NM_020631.6(PLEKHG5):c.541G>C (p.Ala181Pro)
|
rs527341275
|
|
NM_020631.6(PLEKHG5):c.547G>A (p.Glu183Lys)
|
rs886046502
|
|
NM_020631.6(PLEKHG5):c.552T>G (p.Arg184=)
|
|
|
NM_020631.6(PLEKHG5):c.559G>A (p.Ala187Thr)
|
rs199503669
|
|
NM_020631.6(PLEKHG5):c.55G>A (p.Ala19Thr)
|
|
|
NM_020631.6(PLEKHG5):c.562C>A (p.Gln188Lys)
|
|
|
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly)
|
rs1321100552
|
|
NM_020631.6(PLEKHG5):c.567CCG[1] (p.Arg191del)
|
rs1380854015
|
|
NM_020631.6(PLEKHG5):c.569G>A (p.Arg190His)
|
rs770010475
|
|
NM_020631.6(PLEKHG5):c.572G>A (p.Arg191Gln)
|
rs541234129
|
|
NM_020631.6(PLEKHG5):c.573G>A (p.Arg191=)
|
|
|
NM_020631.6(PLEKHG5):c.583G>A (p.Asp195Asn)
|
|
|
NM_020631.6(PLEKHG5):c.586A>G (p.Ile196Val)
|
rs1159602956
|
|
NM_020631.6(PLEKHG5):c.58del (p.Arg20fs)
|
rs1553175760
|
|
NM_020631.6(PLEKHG5):c.591+10dup
|
|
|
NM_020631.6(PLEKHG5):c.591+14G>C
|
|
|
NM_020631.6(PLEKHG5):c.591+15G>A
|
|
|
NM_020631.6(PLEKHG5):c.591+15del
|
|
|
NM_020631.6(PLEKHG5):c.591+4AGG[4]
|
|
|
NM_020631.6(PLEKHG5):c.591+9G>C
|
rs372310391
|
|
NM_020631.6(PLEKHG5):c.591+9G>T
|
|
|
NM_020631.6(PLEKHG5):c.592-10C>T
|
|
|
NM_020631.6(PLEKHG5):c.592-13C>G
|
|
|
NM_020631.6(PLEKHG5):c.592-13C>T
|
|
|
NM_020631.6(PLEKHG5):c.592-15C>A
|
|
|
NM_020631.6(PLEKHG5):c.592-20G>A
|
|
|
NM_020631.6(PLEKHG5):c.592-4C>T
|
|
|
NM_020631.6(PLEKHG5):c.592-6G>C
|
|
|
NM_020631.6(PLEKHG5):c.592-8C>A
|
|
|
NM_020631.6(PLEKHG5):c.592-9C>T
|
|
|
NM_020631.6(PLEKHG5):c.594C>G (p.Ala198=)
|
rs1557745612
|
|
NM_020631.6(PLEKHG5):c.594C>T (p.Ala198=)
|
|
|
NM_020631.6(PLEKHG5):c.59G>A (p.Arg20Gln)
|
rs1259066437
|
|
NM_020631.6(PLEKHG5):c.600C>T (p.Gly200=)
|
|
|
NM_020631.6(PLEKHG5):c.601C>T (p.Arg201Cys)
|
rs561283132
|
|
NM_020631.6(PLEKHG5):c.601CGC[4] (p.Arg203_Lys204insArg)
|
|
|
NM_020631.6(PLEKHG5):c.605G>A (p.Arg202His)
|
|
|
NM_020631.6(PLEKHG5):c.615C>G (p.Asn205Lys)
|
rs2148589091
|
|
NM_020631.6(PLEKHG5):c.618G>T (p.Met206Ile)
|
rs1644658818
|
|
NM_020631.6(PLEKHG5):c.627C>T (p.Phe209=)
|
|
|
NM_020631.6(PLEKHG5):c.633G>A (p.Gly211=)
|
|
|
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=)
|
rs1365704916
|
|
NM_020631.6(PLEKHG5):c.657G>A (p.Glu219=)
|
|
|
NM_020631.6(PLEKHG5):c.663C>A (p.Pro221=)
|
|
|
NM_020631.6(PLEKHG5):c.665C>A (p.Thr222Lys)
|
rs373678202
|
|
NM_020631.6(PLEKHG5):c.666G>A (p.Thr222=)
|
|
|
NM_020631.6(PLEKHG5):c.66G>C (p.Val22=)
|
|
|
NM_020631.6(PLEKHG5):c.690C>T (p.Ser230=)
|
|
|
NM_020631.6(PLEKHG5):c.711C>T (p.Asn237=)
|
|
|
NM_020631.6(PLEKHG5):c.717C>T (p.Gly239=)
|
|
|
NM_020631.6(PLEKHG5):c.729G>A (p.Lys243=)
|
|
|
NM_020631.6(PLEKHG5):c.738G>A (p.Ala246=)
|
|
|
NM_020631.6(PLEKHG5):c.739G>C (p.Ala247Pro)
|
rs772232182
|
|
NM_020631.6(PLEKHG5):c.740C>T (p.Ala247Val)
|
|
|
NM_020631.6(PLEKHG5):c.745C>T (p.Arg249Cys)
|
rs1436222408
|
|
NM_020631.6(PLEKHG5):c.748T>C (p.Phe250Leu)
|
|
|
NM_020631.6(PLEKHG5):c.74G>A (p.Arg25Gln)
|
rs1201574261
|
|
NM_020631.6(PLEKHG5):c.74G>C (p.Arg25Pro)
|
rs1201574261
|
|
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs)
|
rs1644651573
|
|
NM_020631.6(PLEKHG5):c.784G>A (p.Ala262Thr)
|
rs550362834
|
|
NM_020631.6(PLEKHG5):c.78A>G (p.Ser26=)
|
|
|
NM_020631.6(PLEKHG5):c.792C>T (p.Gly264=)
|
|
|
NM_020631.6(PLEKHG5):c.794G>A (p.Arg265Gln)
|
rs1280977628
|
|
NM_020631.6(PLEKHG5):c.795+16T>A
|
|
|
NM_020631.6(PLEKHG5):c.795+20C>G
|
|
|
NM_020631.6(PLEKHG5):c.795+20C>T
|
|
|
NM_020631.6(PLEKHG5):c.796-12G>C
|
|
|
NM_020631.6(PLEKHG5):c.796-13G>A
|
|
|
NM_020631.6(PLEKHG5):c.796-13G>C
|
rs377254091
|
|
NM_020631.6(PLEKHG5):c.796-17C>T
|
|
|
NM_020631.6(PLEKHG5):c.796-20T>C
|
rs1344632009
|
|
NM_020631.6(PLEKHG5):c.796-6T>C
|
|
|
NM_020631.6(PLEKHG5):c.796-6T>G
|
|
|
NM_020631.6(PLEKHG5):c.806A>T (p.Lys269Met)
|
rs886046501
|
|
NM_020631.6(PLEKHG5):c.807G>A (p.Lys269=)
|
|
|
NM_020631.6(PLEKHG5):c.80G>A (p.Cys27Tyr)
|
rs1569889912
|
|
NM_020631.6(PLEKHG5):c.819G>A (p.Leu273=)
|
rs771904496
|
|
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln)
|
rs1644646685
|
|
NM_020631.6(PLEKHG5):c.840C>T (p.Tyr280=)
|
|
|
NM_020631.6(PLEKHG5):c.845T>A (p.Leu282His)
|
rs2148588292
|
|
NM_020631.6(PLEKHG5):c.869G>A (p.Arg290Gln)
|
|
|
NM_020631.6(PLEKHG5):c.870G>A (p.Arg290=)
|
|
|
NM_020631.6(PLEKHG5):c.873G>C (p.Gly291=)
|
|
|
NM_020631.6(PLEKHG5):c.879C>T (p.Arg293=)
|
|
|
NM_020631.6(PLEKHG5):c.889G>A (p.Asp297Asn)
|
rs1644643276
|
|
NM_020631.6(PLEKHG5):c.893C>T (p.Ser298Phe)
|
|
|
NM_020631.6(PLEKHG5):c.89G>A (p.Arg30His)
|
rs199745947
|
|
NM_020631.6(PLEKHG5):c.903_923del (p.Glu301_Glu307del)
|
rs1465693103
|
|
NM_020631.6(PLEKHG5):c.906G>A (p.Glu302=)
|
|
|
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter)
|
rs376900021
|
|
NM_020631.6(PLEKHG5):c.909_911del (p.Asp304del)
|
rs2148588099
|
|
NM_020631.6(PLEKHG5):c.90C>T (p.Arg30=)
|
|
|
NM_020631.6(PLEKHG5):c.915A>G (p.Glu305=)
|
|
|
NM_020631.6(PLEKHG5):c.919G>C (p.Glu307Gln)
|
rs148745591
|
|
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala)
|
rs1644755304
|
|
NM_020631.6(PLEKHG5):c.921G>A (p.Glu307=)
|
|
|
NM_020631.6(PLEKHG5):c.927G>A (p.Glu309=)
|
|
|
NM_020631.6(PLEKHG5):c.92C>G (p.Thr31Ser)
|
|
|
NM_020631.6(PLEKHG5):c.935C>A (p.Ala312Asp)
|
|
|
NM_020631.6(PLEKHG5):c.938G>A (p.Cys313Tyr)
|
|
|
NM_020631.6(PLEKHG5):c.940C>T (p.Leu314=)
|
|
|
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp)
|
rs767511293
|
|
NM_020631.6(PLEKHG5):c.966G>A (p.Glu322=)
|
|
|
NM_020631.6(PLEKHG5):c.967C>A (p.Leu323Ile)
|
rs1275790736
|
|
NM_020631.6(PLEKHG5):c.984+14A>G
|
|
|
NM_020631.6(PLEKHG5):c.984+14A>T
|
|
|
NM_020631.6(PLEKHG5):c.984+15C>T
|
|
|
NM_020631.6(PLEKHG5):c.984+15_984+16del
|
|
|
NM_020631.6(PLEKHG5):c.984+17G>A
|
|
|
NM_020631.6(PLEKHG5):c.984+3G>A
|
rs1282919159
|
|
NM_020631.6(PLEKHG5):c.984+8C>A
|
|
|
NM_020631.6(PLEKHG5):c.984+8C>G
|
|
|
NM_020631.6(PLEKHG5):c.985-11C>T
|
|
|
NM_020631.6(PLEKHG5):c.985-18A>T
|
|
|
NM_020631.6(PLEKHG5):c.985-19C>T
|
|
|
NM_020631.6(PLEKHG5):c.985-19del
|
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
NM_020631.6(PLEKHG5):c.985-4C>T
|
|
|
NM_020631.6(PLEKHG5):c.985-6C>G
|
rs1371350296
|
|
NM_020631.6(PLEKHG5):c.985-7C>A
|
|
|
NM_020631.6(PLEKHG5):c.990G>T (p.Leu330=)
|
|
|
NM_020631.6(PLEKHG5):c.993C>T (p.Thr331=)
|
|
|
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=)
|
rs148232621
|
|
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp)
|
rs148232621
|
|
NM_020631.6(PLEKHG5):c.99C>A (p.Pro33=)
|
|
|
NM_020631.6(PLEKHG5):c.99C>G (p.Pro33=)
|
|
|
NM_020919.4(ALS2):c.*1079A>G
|
rs1689339340
|
|
NM_020919.4(ALS2):c.*1219C>G
|
rs549727520
|
|
NM_020919.4(ALS2):c.*1328G>T
|
rs998591070
|
|
NM_020919.4(ALS2):c.*15T>G
|
rs561331219
|
|
NM_020919.4(ALS2):c.*426T>A
|
rs535733859
|
|
NM_020919.4(ALS2):c.*764A>G
|
rs74933581
|
|
NM_020919.4(ALS2):c.*912A>G
|
rs572942753
|
|
NM_020919.4(ALS2):c.-93A>G
|
rs373055404
|
|
NM_020919.4(ALS2):c.-99C>T
|
rs1047871413
|
|
NM_020919.4(ALS2):c.1011A>G (p.Pro337=)
|
rs1574786314
|
|
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=)
|
rs1693726956
|
|
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)
|
rs369577952
|
|
NM_020919.4(ALS2):c.1304A>T (p.Gln435Leu)
|
rs1085307055
|
|
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs)
|
|
|
NM_020919.4(ALS2):c.138del (p.Ala47fs)
|
rs386134173
|
|
NM_020919.4(ALS2):c.142C>G (p.Leu48Val)
|
|
|
NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu)
|
rs2106071765
|
|
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu)
|
rs763455928
|
|
NM_020919.4(ALS2):c.176A>T (p.Asp59Val)
|
|
|
NM_020919.4(ALS2):c.1783G>T (p.Asp595Tyr)
|
rs199603159
|
|
NM_020919.4(ALS2):c.1816-7G>A
|
rs763440221
|
|
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)
|
rs730882255
|
|
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)
|
rs1574748038
|
|
NM_020919.4(ALS2):c.2168dup (p.Leu723fs)
|
|
|
NM_020919.4(ALS2):c.2170+19T>C
|
rs2106050526
|
|
NM_020919.4(ALS2):c.248T>G (p.Ile83Ser)
|
rs886055455
|
|
NM_020919.4(ALS2):c.2580+15A>G
|
rs1691683706
|
|
NM_020919.4(ALS2):c.2580+2T>C
|
rs2106023727
|
|
NM_020919.4(ALS2):c.2707dup (p.Met903fs)
|
rs2106012637
|
|
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)
|
rs587777132
|
|
NM_020919.4(ALS2):c.346G>A (p.Gly116Arg)
|
rs1693775888
|
|
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)
|
rs757972700
|
|
NM_020919.4(ALS2):c.3624+1G>A
|
rs2105998730
|
|
NM_020919.4(ALS2):c.3893del (p.Asp1298fs)
|
|
|
NM_020919.4(ALS2):c.4064del (p.Gln1355fs)
|
|
|
NM_020919.4(ALS2):c.4123-4T>C
|
rs886055453
|
|
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter)
|
rs2105972075
|
|
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)
|
rs863225293
|
|
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)
|
rs1689931402
|
|
NM_020919.4(ALS2):c.4366G>C (p.Gly1456Arg)
|
rs886055452
|
|
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)
|
rs374047961
|
|
NM_020919.4(ALS2):c.4566T>C (p.Phe1522=)
|
rs1214757167
|
|
NM_020919.4(ALS2):c.4573dup (p.Val1525fs)
|
rs730882256
|
|
NM_020919.4(ALS2):c.4627-4G>A
|
rs765859367
|
|
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs)
|
rs1689584119
|
|
NM_020919.4(ALS2):c.553del (p.Thr185fs)
|
rs386134174
|
|
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)
|
rs1574787779
|
|
NM_021076.4(NEFH):c.1083+254=
|
rs140814097
|
|
NM_021076.4(NEFH):c.1376_1379del (p.Glu459fs)
|
rs1404118739
|
|
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3])
|
rs147489453
|
|
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1])
|
rs59890097
|
|
NM_021625.4(TRPV4):c.-92G>T
|
rs906360195
|
|
NM_021625.5(TRPV4):c.*145C>T
|
rs1889461810
|
|
NM_021625.5(TRPV4):c.*227A>G
|
rs1889456342
|
|
NM_021625.5(TRPV4):c.*2G>A
|
rs1889473862
|
|
NM_021625.5(TRPV4):c.*421G>A
|
rs1010774371
|
|
NM_021625.5(TRPV4):c.*83C>G
|
rs1360617913
|
|
NM_021625.5(TRPV4):c.1344G>T (p.Glu448Asp)
|
|
|
NM_021625.5(TRPV4):c.1352C>T (p.Ala451Val)
|
rs886048940
|
|
NM_021625.5(TRPV4):c.171T>C (p.Pro57=)
|
rs886048941
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg)
|
rs769225216
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
NM_021625.5(TRPV4):c.1825-15C>T
|
rs200602134
|
|
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
|
rs1891742510
|
|
NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)
|
|
|
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg)
|
rs1555205050
|
|
NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys)
|
rs1889714023
|
|
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)
|
rs267607149
|
|
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
|
rs34071623
|
|
NM_021625.5(TRPV4):c.290C>G (p.Pro97Arg)
|
rs876661124
|
|
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr)
|
rs201642486
|
|
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494
|
|
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met)
|
rs1031096826
|
|
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904
|
|
NM_021625.5(TRPV4):c.760G>A (p.Val254Met)
|
rs143548402
|
|
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val)
|
rs1890720450
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145
|
|
NM_021815.5(SLC5A7):c.1012G>T (p.Gly338Cys)
|
rs2104379258
|
|
NM_021815.5(SLC5A7):c.1023T>C (p.Ser341=)
|
|
|
NM_021815.5(SLC5A7):c.1023T>G (p.Ser341=)
|
|
|
NM_021815.5(SLC5A7):c.1027G>A (p.Ala343Thr)
|
rs140481686
|
|
NM_021815.5(SLC5A7):c.102C>T (p.Ser34=)
|
rs778941657
|
|
NM_021815.5(SLC5A7):c.1046A>G (p.Asp349Gly)
|
rs2104379374
|
|
NM_021815.5(SLC5A7):c.1072A>T (p.Met358Leu)
|
rs762453964
|
|
NM_021815.5(SLC5A7):c.1086C>T (p.Asn362=)
|
rs761044523
|
|
NM_021815.5(SLC5A7):c.1096C>A (p.Leu366Ile)
|
rs2104379560
|
|
NM_021815.5(SLC5A7):c.10C>G (p.His4Asp)
|
rs1206415590
|
|
NM_021815.5(SLC5A7):c.1113+13del
|
rs2104379640
|
|
NM_021815.5(SLC5A7):c.1113+14C>A
|
|
|
NM_021815.5(SLC5A7):c.1113+14del
|
|
|
NM_021815.5(SLC5A7):c.1114-10T>C
|
|
|
NM_021815.5(SLC5A7):c.1114-13C>A
|
|
|
NM_021815.5(SLC5A7):c.1114-16_1114-15del
|
|
|
NM_021815.5(SLC5A7):c.1115C>A (p.Ala372Asp)
|
|
|
NM_021815.5(SLC5A7):c.112C>T (p.Arg38Cys)
|
rs935822553
|
|
NM_021815.5(SLC5A7):c.1132G>T (p.Val378Phe)
|
|
|
NM_021815.5(SLC5A7):c.1137G>T (p.Trp379Cys)
|
|
|
NM_021815.5(SLC5A7):c.1138G>A (p.Val380Ile)
|
rs2104382635
|
|
NM_021815.5(SLC5A7):c.113G>A (p.Arg38His)
|
rs1054170676
|
|
NM_021815.5(SLC5A7):c.113G>T (p.Arg38Leu)
|
|
|
NM_021815.5(SLC5A7):c.1153G>T (p.Val385Leu)
|
rs1678267305
|
|
NM_021815.5(SLC5A7):c.1161G>A (p.Val387=)
|
rs2104382693
|
|
NM_021815.5(SLC5A7):c.1170A>G (p.Ala390=)
|
|
|
NM_021815.5(SLC5A7):c.117C>A (p.Ser39Arg)
|
|
|
NM_021815.5(SLC5A7):c.1182C>T (p.Ala394=)
|
|
|
NM_021815.5(SLC5A7):c.1184T>C (p.Met395Thr)
|
rs556748289
|
|
NM_021815.5(SLC5A7):c.1196C>T (p.Thr399Met)
|
|
|
NM_021815.5(SLC5A7):c.1202C>G (p.Thr401Ser)
|
rs1558872383
|
|
NM_021815.5(SLC5A7):c.1203T>A (p.Thr401=)
|
|
|
NM_021815.5(SLC5A7):c.1204G>A (p.Val402Met)
|
|
|
NM_021815.5(SLC5A7):c.121G>A (p.Ala41Thr)
|
rs1677323077
|
|
NM_021815.5(SLC5A7):c.1220A>G (p.Tyr407Cys)
|
|
|
NM_021815.5(SLC5A7):c.1251C>T (p.Ile417=)
|
rs1334655911
|
|
NM_021815.5(SLC5A7):c.1257C>T (p.Pro419=)
|
rs557717267
|
|
NM_021815.5(SLC5A7):c.1262T>C (p.Leu421Pro)
|
rs2104383027
|
|
NM_021815.5(SLC5A7):c.1266T>G (p.Leu422=)
|
rs1553459987
|
|
NM_021815.5(SLC5A7):c.1269T>C (p.Cys423=)
|
rs1678273384
|
|
NM_021815.5(SLC5A7):c.1274T>C (p.Leu425Pro)
|
rs2104383051
|
|
NM_021815.5(SLC5A7):c.1286G>A (p.Gly429Glu)
|
|
|
NM_021815.5(SLC5A7):c.1290C>G (p.Thr430=)
|
rs1573618054
|
|
NM_021815.5(SLC5A7):c.1293C>G (p.Asn431Lys)
|
rs2104383095
|
|
NM_021815.5(SLC5A7):c.1300G>A (p.Gly434Arg)
|
rs2104383123
|
|
NM_021815.5(SLC5A7):c.1302G>A (p.Gly434=)
|
rs767552380
|
|
NM_021815.5(SLC5A7):c.1306G>T (p.Val436Leu)
|
rs148535388
|
|
NM_021815.5(SLC5A7):c.1316A>T (p.Tyr439Phe)
|
rs2104383202
|
|
NM_021815.5(SLC5A7):c.1319T>C (p.Val440Ala)
|
rs1446985615
|
|
NM_021815.5(SLC5A7):c.1326C>T (p.Gly442=)
|
|
|
NM_021815.5(SLC5A7):c.1357T>C (p.Tyr453His)
|
rs1678278823
|
|
NM_021815.5(SLC5A7):c.1362G>C (p.Leu454=)
|
|
|
NM_021815.5(SLC5A7):c.1362G>T (p.Leu454=)
|
|
|
NM_021815.5(SLC5A7):c.1376T>C (p.Leu459Ser)
|
rs145310206
|
|
NM_021815.5(SLC5A7):c.137G>T (p.Gly46Val)
|
|
|
NM_021815.5(SLC5A7):c.1387C>T (p.Pro463Ser)
|
rs1558872670
|
|
NM_021815.5(SLC5A7):c.1389T>C (p.Pro463=)
|
|
|
NM_021815.5(SLC5A7):c.1399C>A (p.Pro467Thr)
|
|
|
NM_021815.5(SLC5A7):c.1405G>A (p.Asp469Asn)
|
rs1678280904
|
|
NM_021815.5(SLC5A7):c.1409A>G (p.Asn470Ser)
|
rs1678281220
|
|
NM_021815.5(SLC5A7):c.1412G>A (p.Gly471Asp)
|
|
|
NM_021815.5(SLC5A7):c.1415T>G (p.Ile472Arg)
|
|
|
NM_021815.5(SLC5A7):c.1418A>G (p.Tyr473Cys)
|
rs1323329132
|
|
NM_021815.5(SLC5A7):c.1425G>T (p.Gln475His)
|
|
|
NM_021815.5(SLC5A7):c.142G>A (p.Asp48Asn)
|
|
|
NM_021815.5(SLC5A7):c.1436T>G (p.Phe479Cys)
|
rs1274120636
|
|
NM_021815.5(SLC5A7):c.145A>T (p.Ile49Phe)
|
|
|
NM_021815.5(SLC5A7):c.1462T>C (p.Phe488Leu)
|
|
|
NM_021815.5(SLC5A7):c.1465T>C (p.Leu489=)
|
rs2104383662
|
|
NM_021815.5(SLC5A7):c.1469C>T (p.Thr490Ile)
|
|
|
NM_021815.5(SLC5A7):c.146T>C (p.Ile49Thr)
|
|
|
NM_021815.5(SLC5A7):c.1476_1481dup (p.Ile494_Ser495insCysIle)
|
|
|
NM_021815.5(SLC5A7):c.1480A>G (p.Ile494Val)
|
|
|
NM_021815.5(SLC5A7):c.1482C>G (p.Ile494Met)
|
|
|
NM_021815.5(SLC5A7):c.148G>T (p.Gly50Cys)
|
|
|
NM_021815.5(SLC5A7):c.1493C>G (p.Ala498Gly)
|
|
|
NM_021815.5(SLC5A7):c.1497G>A (p.Lys499=)
|
rs2104383766
|
|
NM_021815.5(SLC5A7):c.1497del (p.Lys499fs)
|
rs1558872865
|
|
NM_021815.5(SLC5A7):c.1498T>C (p.Tyr500His)
|
|
|
NM_021815.5(SLC5A7):c.1500T>A (p.Tyr500Ter)
|
|
|
NM_021815.5(SLC5A7):c.1501C>T (p.Leu501=)
|
|
|
NM_021815.5(SLC5A7):c.1503A>G (p.Leu501=)
|
|
|
NM_021815.5(SLC5A7):c.1503_1506del (p.Phe502fs)
|
|
|
NM_021815.5(SLC5A7):c.1526C>A (p.Pro509His)
|
|
|
NM_021815.5(SLC5A7):c.1526C>G (p.Pro509Arg)
|
|
|
NM_021815.5(SLC5A7):c.1529A>T (p.Lys510Ile)
|
rs199693962
|
|
NM_021815.5(SLC5A7):c.1533A>G (p.Leu511=)
|
rs748269839
|
|
NM_021815.5(SLC5A7):c.1543G>C (p.Asp515His)
|
|
|
NM_021815.5(SLC5A7):c.154T>C (p.Leu52=)
|
rs894241313
|
|
NM_021815.5(SLC5A7):c.1550T>C (p.Val517Ala)
|
|
|
NM_021815.5(SLC5A7):c.1553T>C (p.Val518Ala)
|
rs1558872967
|
|
NM_021815.5(SLC5A7):c.1556C>G (p.Ala519Gly)
|
rs776499560
|
|
NM_021815.5(SLC5A7):c.1566T>G (p.Ser522Arg)
|
|
|
NM_021815.5(SLC5A7):c.1569A>G (p.Glu523=)
|
|
|
NM_021815.5(SLC5A7):c.1576A>G (p.Met526Val)
|
|
|
NM_021815.5(SLC5A7):c.1581T>A (p.Asp527Glu)
|
|
|
NM_021815.5(SLC5A7):c.1581dup (p.Lys528Ter)
|
rs1678292762
|
|
NM_021815.5(SLC5A7):c.1601A>G (p.Asn534Ser)
|
rs1678293099
|
|
NM_021815.5(SLC5A7):c.1607A>G (p.Asn536Ser)
|
|
|
NM_021815.5(SLC5A7):c.1608T>C (p.Asn536=)
|
|
|
NM_021815.5(SLC5A7):c.1610T>C (p.Ile537Thr)
|
rs1157492588
|
|
NM_021815.5(SLC5A7):c.1615T>C (p.Leu539=)
|
rs904369740
|
|
NM_021815.5(SLC5A7):c.1629A>C (p.Ala543=)
|
|
|
NM_021815.5(SLC5A7):c.1637A>G (p.Lys546Arg)
|
|
|
NM_021815.5(SLC5A7):c.1649G>A (p.Ser550Asn)
|
|
|
NM_021815.5(SLC5A7):c.1659C>G (p.Leu553=)
|
rs2104384314
|
|
NM_021815.5(SLC5A7):c.1659C>T (p.Leu553=)
|
rs2104384314
|
|
NM_021815.5(SLC5A7):c.1670T>C (p.Phe557Ser)
|
rs1558873189
|
|
NM_021815.5(SLC5A7):c.1672A>T (p.Thr558Ser)
|
|
|
NM_021815.5(SLC5A7):c.1673C>G (p.Thr558Ser)
|
rs747026995
|
|
NM_021815.5(SLC5A7):c.1676A>G (p.Asn559Ser)
|
|
|
NM_021815.5(SLC5A7):c.1677T>C (p.Asn559=)
|
rs1678299598
|
|
NM_021815.5(SLC5A7):c.1685C>A (p.Ala562Asp)
|
|
|
NM_021815.5(SLC5A7):c.1685C>G (p.Ala562Gly)
|
rs776388070
|
|
NM_021815.5(SLC5A7):c.1690C>G (p.Leu564Val)
|
rs1553460067
|
|
NM_021815.5(SLC5A7):c.1697T>C (p.Val566Ala)
|
rs202227094
|
|
NM_021815.5(SLC5A7):c.1699G>T (p.Asp567Tyr)
|
rs1573619033
|
|
NM_021815.5(SLC5A7):c.1703C>G (p.Ser568Cys)
|
|
|
NM_021815.5(SLC5A7):c.1708_*45delinsATCAACCAGAACC (p.Pro570fs)
|
|
|
NM_021815.5(SLC5A7):c.1721G>T (p.Gly574Val)
|
rs1222691698
|
|
NM_021815.5(SLC5A7):c.1725T>G (p.Thr575=)
|
rs1678302888
|
|
NM_021815.5(SLC5A7):c.1726G>A (p.Glu576Lys)
|
rs763725923
|
|
NM_021815.5(SLC5A7):c.175A>T (p.Thr59Ser)
|
|
|
NM_021815.5(SLC5A7):c.177A>G (p.Thr59=)
|
rs1553457528
|
|
NM_021815.5(SLC5A7):c.178+13G>A
|
|
|
NM_021815.5(SLC5A7):c.178+1G>C
|
rs1677325509
|
|
NM_021815.5(SLC5A7):c.178+4C>G
|
|
|
NM_021815.5(SLC5A7):c.178+6T>C
|
rs1553457530
|
|
NM_021815.5(SLC5A7):c.179-2A>G
|
rs2104340311
|
|
NM_021815.5(SLC5A7):c.189C>T (p.Val63=)
|
rs1573591981
|
|
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu)
|
rs886039765
|
|
NM_021815.5(SLC5A7):c.19G>C (p.Gly7Arg)
|
rs753442687
|
|
NM_021815.5(SLC5A7):c.21A>G (p.Gly7=)
|
|
|
NM_021815.5(SLC5A7):c.229G>A (p.Val77Ile)
|
|
|
NM_021815.5(SLC5A7):c.230T>A (p.Val77Glu)
|
rs1573592052
|
|
NM_021815.5(SLC5A7):c.236G>T (p.Gly79Val)
|
rs1177599655
|
|
NM_021815.5(SLC5A7):c.260C>T (p.Ala87Val)
|
rs1558859918
|
|
NM_021815.5(SLC5A7):c.266T>C (p.Ile89Thr)
|
|
|
NM_021815.5(SLC5A7):c.26T>C (p.Ile9Thr)
|
rs543338077
|
|
NM_021815.5(SLC5A7):c.275C>T (p.Ser92Phe)
|
rs60964124
|
|
NM_021815.5(SLC5A7):c.277C>A (p.Leu93Ile)
|
rs1172822464
|
|
NM_021815.5(SLC5A7):c.278T>G (p.Leu93Arg)
|
|
|
NM_021815.5(SLC5A7):c.285G>C (p.Leu95=)
|
|
|
NM_021815.5(SLC5A7):c.292+11G>C
|
rs777715689
|
|
NM_021815.5(SLC5A7):c.292+1G>A
|
rs1677478183
|
|
NM_021815.5(SLC5A7):c.292+5G>C
|
|
|
NM_021815.5(SLC5A7):c.293-17A>T
|
|
|
NM_021815.5(SLC5A7):c.294T>C (p.Gly98=)
|
rs2104342304
|
|
NM_021815.5(SLC5A7):c.297C>T (p.Gly99=)
|
|
|
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser)
|
rs886039766
|
|
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
|
|
|
NM_021815.5(SLC5A7):c.324A>C (p.Ser108=)
|
|
|
NM_021815.5(SLC5A7):c.333T>C (p.Tyr111=)
|
rs1573593406
|
|
NM_021815.5(SLC5A7):c.351G>C (p.Pro117=)
|
rs368109143
|
|
NM_021815.5(SLC5A7):c.354T>C (p.Phe118=)
|
|
|
NM_021815.5(SLC5A7):c.364dup (p.Tyr122fs)
|
rs2104342591
|
|
NM_021815.5(SLC5A7):c.36C>T (p.Ile12=)
|
|
|
NM_021815.5(SLC5A7):c.376A>G (p.Met126Val)
|
rs371931981
|
|
NM_021815.5(SLC5A7):c.377T>C (p.Met126Thr)
|
|
|
NM_021815.5(SLC5A7):c.378G>A (p.Met126Ile)
|
rs1336840043
|
|
NM_021815.5(SLC5A7):c.37G>A (p.Val13Met)
|
rs1677319788
|
|
NM_021815.5(SLC5A7):c.390G>A (p.Leu130=)
|
rs1553457998
|
|
NM_021815.5(SLC5A7):c.39G>A (p.Val13=)
|
|
|
NM_021815.5(SLC5A7):c.401C>T (p.Ala134Val)
|
|
|
NM_021815.5(SLC5A7):c.402A>C (p.Ala134=)
|
|
|
NM_021815.5(SLC5A7):c.406A>G (p.Met136Val)
|
|
|
NM_021815.5(SLC5A7):c.419T>G (p.Phe140Cys)
|
rs1558860651
|
|
NM_021815.5(SLC5A7):c.427G>A (p.Ala143Thr)
|
rs1558860658
|
|
NM_021815.5(SLC5A7):c.428C>A (p.Ala143Glu)
|
rs1677517934
|
|
NM_021815.5(SLC5A7):c.429A>G (p.Ala143=)
|
rs2104342884
|
|
NM_021815.5(SLC5A7):c.42C>A (p.Phe14Leu)
|
rs1558857378
|
|
NM_021815.5(SLC5A7):c.441T>C (p.Ser147=)
|
|
|
NM_021815.5(SLC5A7):c.448+12C>T
|
rs775806807
|
|
NM_021815.5(SLC5A7):c.448+6G>A
|
|
|
NM_021815.5(SLC5A7):c.448+7A>G
|
|
|
NM_021815.5(SLC5A7):c.448+9C>T
|
rs759922183
|
|
NM_021815.5(SLC5A7):c.449-11G>A
|
|
|
NM_021815.5(SLC5A7):c.449-13_449-12del
|
|
|
NM_021815.5(SLC5A7):c.449-9_449-8del
|
|
|
NM_021815.5(SLC5A7):c.451G>A (p.Ala151Thr)
|
rs1677727536
|
|
NM_021815.5(SLC5A7):c.463G>C (p.Val155Leu)
|
|
|
NM_021815.5(SLC5A7):c.466A>G (p.Ile156Val)
|
|
|
NM_021815.5(SLC5A7):c.46C>A (p.Leu16Ile)
|
|
|
NM_021815.5(SLC5A7):c.46C>G (p.Leu16Val)
|
rs143876748
|
|
NM_021815.5(SLC5A7):c.472G>C (p.Asp158His)
|
|
|
NM_021815.5(SLC5A7):c.499A>T (p.Ile167Phe)
|
|
|
NM_021815.5(SLC5A7):c.502T>C (p.Ser168Pro)
|
|
|
NM_021815.5(SLC5A7):c.517A>T (p.Thr173Ser)
|
rs2104354270
|
|
NM_021815.5(SLC5A7):c.518C>A (p.Thr173Asn)
|
rs746514670
|
|
NM_021815.5(SLC5A7):c.518C>T (p.Thr173Ile)
|
rs746514670
|
|
NM_021815.5(SLC5A7):c.528A>G (p.Thr176=)
|
rs780484840
|
|
NM_021815.5(SLC5A7):c.529C>A (p.Leu177Met)
|
rs2104354340
|
|
NM_021815.5(SLC5A7):c.531G>T (p.Leu177=)
|
rs1027922396
|
|
NM_021815.5(SLC5A7):c.532G>A (p.Val178Met)
|
|
|
NM_021815.5(SLC5A7):c.540G>A (p.Gly180=)
|
rs574474443
|
|
NM_021815.5(SLC5A7):c.540G>T (p.Gly180=)
|
rs574474443
|
|
NM_021815.5(SLC5A7):c.543C>T (p.Leu181=)
|
|
|
NM_021815.5(SLC5A7):c.555C>T (p.Ala185=)
|
rs1032544775
|
|
NM_021815.5(SLC5A7):c.567C>T (p.Val189=)
|
|
|
NM_021815.5(SLC5A7):c.568G>C (p.Val190Leu)
|
rs541031936
|
|
NM_021815.5(SLC5A7):c.572A>G (p.Gln191Arg)
|
|
|
NM_021815.5(SLC5A7):c.577T>G (p.Phe193Val)
|
|
|
NM_021815.5(SLC5A7):c.583A>G (p.Ile195Val)
|
rs776668635
|
|
NM_021815.5(SLC5A7):c.591A>G (p.Val197=)
|
|
|
NM_021815.5(SLC5A7):c.594G>T (p.Gly198=)
|
|
|
NM_021815.5(SLC5A7):c.597+14C>T
|
rs370808911
|
|
NM_021815.5(SLC5A7):c.598-12T>C
|
|
|
NM_021815.5(SLC5A7):c.598-18T>G
|
rs892853771
|
|
NM_021815.5(SLC5A7):c.598-7G>A
|
rs759555286
|
|
NM_021815.5(SLC5A7):c.598T>C (p.Trp200Arg)
|
|
|
NM_021815.5(SLC5A7):c.603C>G (p.Ile201Met)
|
|
|
NM_021815.5(SLC5A7):c.607G>A (p.Val203Ile)
|
|
|
NM_021815.5(SLC5A7):c.607G>C (p.Val203Leu)
|
|
|
NM_021815.5(SLC5A7):c.625C>T (p.His209Tyr)
|
rs763744412
|
|
NM_021815.5(SLC5A7):c.630T>C (p.Pro210=)
|
|
|
NM_021815.5(SLC5A7):c.648G>C (p.Gly216=)
|
rs1573607048
|
|
NM_021815.5(SLC5A7):c.649T>A (p.Phe217Ile)
|
|
|
NM_021815.5(SLC5A7):c.656C>T (p.Ala219Val)
|
rs2104364447
|
|
NM_021815.5(SLC5A7):c.663T>A (p.His221Gln)
|
rs2104364491
|
|
NM_021815.5(SLC5A7):c.679C>T (p.Pro227Ser)
|
rs1035258430
|
|
NM_021815.5(SLC5A7):c.682T>A (p.Trp228Arg)
|
rs1677927136
|
|
NM_021815.5(SLC5A7):c.703T>G (p.Ser235Ala)
|
rs1677928025
|
|
NM_021815.5(SLC5A7):c.729T>G (p.Ser243Arg)
|
|
|
NM_021815.5(SLC5A7):c.737T>C (p.Leu246Ser)
|
|
|
NM_021815.5(SLC5A7):c.741+11C>T
|
|
|
NM_021815.5(SLC5A7):c.741+8A>C
|
|
|
NM_021815.5(SLC5A7):c.742-10T>C
|
rs2104373298
|
|
NM_021815.5(SLC5A7):c.742-15G>A
|
|
|
NM_021815.5(SLC5A7):c.742-17T>C
|
|
|
NM_021815.5(SLC5A7):c.742-2A>G
|
|
|
NM_021815.5(SLC5A7):c.742-3C>T
|
rs995989817
|
|
NM_021815.5(SLC5A7):c.742-5C>T
|
rs1287734210
|
|
NM_021815.5(SLC5A7):c.742-6G>T
|
|
|
NM_021815.5(SLC5A7):c.742A>T (p.Met248Leu)
|
|
|
NM_021815.5(SLC5A7):c.747G>A (p.Leu249=)
|
rs2104373334
|
|
NM_021815.5(SLC5A7):c.74C>T (p.Ala25Val)
|
rs2104332660
|
|
NM_021815.5(SLC5A7):c.759A>T (p.Pro253=)
|
rs372145153
|
|
NM_021815.5(SLC5A7):c.768A>C (p.Ala256=)
|
|
|
NM_021815.5(SLC5A7):c.772T>C (p.Phe258Leu)
|
|
|
NM_021815.5(SLC5A7):c.779G>T (p.Arg260Met)
|
rs1678107773
|
|
NM_021815.5(SLC5A7):c.788C>G (p.Ser263Cys)
|
rs1259002559
|
|
NM_021815.5(SLC5A7):c.797C>T (p.Ser266Leu)
|
|
|
NM_021815.5(SLC5A7):c.800C>T (p.Ala267Val)
|
rs761583647
|
|
NM_021815.5(SLC5A7):c.806A>G (p.Tyr269Cys)
|
|
|
NM_021815.5(SLC5A7):c.815T>C (p.Val272Ala)
|
rs772699592
|
|
NM_021815.5(SLC5A7):c.81G>A (p.Trp27Ter)
|
rs1677321281
|
|
NM_021815.5(SLC5A7):c.827T>C (p.Leu276Pro)
|
rs2104373588
|
|
NM_021815.5(SLC5A7):c.840G>T (p.Gly280=)
|
|
|
NM_021815.5(SLC5A7):c.862G>C (p.Ala288Pro)
|
|
|
NM_021815.5(SLC5A7):c.877G>A (p.Ala293Thr)
|
rs2104373775
|
|
NM_021815.5(SLC5A7):c.878C>T (p.Ala293Val)
|
rs1553459529
|
|
NM_021815.5(SLC5A7):c.880A>G (p.Ile294Val)
|
|
|
NM_021815.5(SLC5A7):c.888A>C (p.Ala296=)
|
|
|
NM_021815.5(SLC5A7):c.895+12G>A
|
|
|
NM_021815.5(SLC5A7):c.895+17T>C
|
|
|
NM_021815.5(SLC5A7):c.895+1G>C
|
rs1678115852
|
|
NM_021815.5(SLC5A7):c.895+20A>G
|
|
|
NM_021815.5(SLC5A7):c.895+4A>G
|
|
|
NM_021815.5(SLC5A7):c.896-13T>C
|
|
|
NM_021815.5(SLC5A7):c.896-17T>C
|
|
|
NM_021815.5(SLC5A7):c.896-18G>T
|
|
|
NM_021815.5(SLC5A7):c.8T>C (p.Phe3Ser)
|
|
|
NM_021815.5(SLC5A7):c.903C>T (p.Asn301=)
|
rs2104379044
|
|
NM_021815.5(SLC5A7):c.912A>C (p.Ala304=)
|
|
|
NM_021815.5(SLC5A7):c.919C>T (p.Leu307Phe)
|
|
|
NM_021815.5(SLC5A7):c.931A>C (p.Lys311Gln)
|
rs1307429820
|
|
NM_021815.5(SLC5A7):c.939A>G (p.Thr313=)
|
rs778842636
|
|
NM_021815.5(SLC5A7):c.949G>T (p.Asp317Tyr)
|
rs1678201892
|
|
NM_021815.5(SLC5A7):c.952A>G (p.Met318Val)
|
rs1678202004
|
|
NM_021815.5(SLC5A7):c.95G>A (p.Ser32Asn)
|
|
|
NM_021815.5(SLC5A7):c.963A>G (p.Pro321=)
|
|
|
NM_021815.5(SLC5A7):c.964A>G (p.Ile322Val)
|
|
|
NM_021815.5(SLC5A7):c.981C>T (p.Leu327=)
|
rs1011037891
|
|
NM_021980.4(OPTN):c.-187G>T
|
rs553169923
|
|
NM_021980.4(OPTN):c.-227G>T
|
rs3814657
|
|
NM_021980.4(OPTN):c.-232G>T
|
rs886046816
|
|
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys)
|
rs892937993
|
|
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)
|
rs267607084
|
|
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
|
|
|
NM_025137.4(SPG11):c.1377C>T (p.Gly459=)
|
rs768183449
|
|
NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter)
|
rs1226110412
|
|
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly)
|
rs911119510
|
|
NM_025137.4(SPG11):c.1529G>A (p.Ser510Asn)
|
rs1408459133
|
|
NM_025137.4(SPG11):c.1588A>G (p.Ile530Val)
|
rs746138256
|
|
NM_025137.4(SPG11):c.1735+4A>G
|
rs2141056546
|
|
NM_025137.4(SPG11):c.1801C>T (p.Pro601Ser)
|
rs775799559
|
|
NM_025137.4(SPG11):c.193G>A (p.Val65Met)
|
rs999651004
|
|
NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs)
|
rs1303294230
|
|
NM_025137.4(SPG11):c.19G>T (p.Val7Phe)
|
rs774670657
|
|
NM_025137.4(SPG11):c.2128A>G (p.Ile710Val)
|
rs779467011
|
|
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)
|
rs312262739
|
|
NM_025137.4(SPG11):c.2250del (p.Phe750fs)
|
rs2083790483
|
|
NM_025137.4(SPG11):c.23C>T (p.Ala8Val)
|
rs200939573
|
|
NM_025137.4(SPG11):c.2445-20del
|
rs374899647
|
|
NM_025137.4(SPG11):c.2445-32dup
|
rs374899647
|
|
NM_025137.4(SPG11):c.257+17A>G
|
rs201878138
|
|
NM_025137.4(SPG11):c.258-6del
|
rs373234269
|
|
NM_025137.4(SPG11):c.2621-15dup
|
rs577083743
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
NM_025137.4(SPG11):c.3039-10T>G
|
rs1567163243
|
|
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs)
|
rs746971952
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.3508C>A (p.Leu1170Ile)
|
rs534771304
|
|
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)
|
rs1555451521
|
|
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr)
|
rs76389165
|
|
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile)
|
rs2140977252
|
|
NM_025137.4(SPG11):c.3914C>G (p.Ala1305Gly)
|
rs746116309
|
|
NM_025137.4(SPG11):c.3989A>G (p.Gln1330Arg)
|
rs2083094391
|
|
NM_025137.4(SPG11):c.4161+9C>G
|
rs1555451101
|
|
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala)
|
rs2083030697
|
|
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)
|
rs2140971559
|
|
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)
|
rs374303102
|
|
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
|
rs587777921
|
|
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met)
|
rs754536969
|
|
NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys)
|
rs762524521
|
|
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg)
|
rs1555448989
|
|
NM_025137.4(SPG11):c.5199del (p.Lys1733fs)
|
rs779268551
|
|
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala)
|
rs766375553
|
|
NM_025137.4(SPG11):c.5866_5866+4del
|
rs771346977
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln)
|
rs879367729
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg)
|
rs773225085
|
|
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg)
|
rs751929116
|
|
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr)
|
rs1567129561
|
|
NM_025137.4(SPG11):c.6391C>A (p.His2131Asn)
|
rs775209503
|
|
NM_025137.4(SPG11):c.6477+4A>G
|
rs312262780
|
|
NM_025137.4(SPG11):c.6586-7T>C
|
rs1057524222
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
NM_025137.4(SPG11):c.6755-17_6755-15del
|
rs143026515
|
|
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del)
|
rs1060501169
|
|
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)
|
rs371334506
|
|
NM_025137.4(SPG11):c.7029dup (p.Val2344fs)
|
rs312262788
|
|
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val)
|
rs780550991
|
|
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)
|
rs778305085
|
|
NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)
|
|
|
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro)
|
rs765644977
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile)
|
rs75309308
|
|
NM_025265.4(TSEN2):c.1016T>G (p.Phe339Cys)
|
|
|
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys)
|
rs1477347690
|
|
NM_025265.4(TSEN2):c.1087G>A (p.Gly363Arg)
|
|
|
NM_025265.4(TSEN2):c.1272T>C (p.Ile424=)
|
rs111535594
|
|
NM_025265.4(TSEN2):c.1355G>T (p.Arg452Leu)
|
|
|
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)
|
rs797046052
|
|
NM_025265.4(TSEN2):c.23C>A (p.Ala8Asp)
|
|
|
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter)
|
rs730880294
|
|
NM_025265.4(TSEN2):c.703CAT[1] (p.His236del)
|
|
|
NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs)
|
rs2054534882
|
|
NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys)
|
rs1553587071
|
|
NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg)
|
rs886037739
|
|
NM_025265.4(TSEN2):c.960+1_960+5del
|
rs886037738
|
|
NM_031157.4(HNRNPA1):c.491-3dup
|
rs202119045
|
|
NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn)
|
rs397518453
|
|
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly)
|
rs730882223
|
|
NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys)
|
rs879253779
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_144599.5(NIPA1):c.24GGC[21] (p.Ala4_Ala16dup)
|
rs531550505
|
|
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)
|
rs368751524
|
|
NM_145868.2(ANXA11):c.488AGC[2] (p.Gln165del)
|
rs1438529241
|
|
NM_145868.2(ANXA11):c.523G>A (p.Gly175Arg)
|
rs754594235
|
|
NM_145868.2(ANXA11):c.607del (p.Leu203fs)
|
|
|
NM_145868.2(ANXA11):c.904C>T (p.Arg302Cys)
|
rs142183550
|
|
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)
|
rs267607623
|
|
NM_177924.5(ASAH1):c.1098+120T>G
|
rs420610
|
|
NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)
|
|
|
NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg)
|
rs1800367831
|
|
NM_177924.5(ASAH1):c.125+1G>A
|
rs1588999312
|
|
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)
|
rs766395283
|
|
NM_177924.5(ASAH1):c.223_224insC (p.Val75fs)
|
rs1588990194
|
|
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)
|
rs966267709
|
|
NM_177924.5(ASAH1):c.458-81T>A
|
rs7824650
|
|
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)
|
rs1588978873
|
|
NM_177924.5(ASAH1):c.556A>G (p.Thr186Ala)
|
rs368212646
|
|
NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe)
|
rs1588978684
|
|
NM_177924.5(ASAH1):c.667C>T (p.Leu223=)
|
rs371332103
|
|
NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg)
|
rs886039750
|
|
NM_177924.5(ASAH1):c.79-50G>A
|
rs34482943
|
|
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)
|
rs794729663
|
|
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr)
|
rs200758704
|
|
NM_181503.3(EXOSC8):c.17+1G>T
|
rs1412754843
|
|
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)
|
|
|
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)
|
|
|
NM_181503.3(EXOSC8):c.55-10_55-9del
|
rs144158336
|
|
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)
|
rs606231285
|
|
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)
|
rs1593709247
|
|
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)
|
rs773616244
|
|
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)
|
rs1221939030
|
|
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
|
rs764339075
|
|
NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter)
|
rs2076486420
|
|
NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)
|
rs775935265
|
|
NM_199189.2(MATR3):c.-563T>C
|
rs1753162477
|
|
NM_205836.3(FBXO38):c.1008C>G (p.Val336=)
|
rs2113563750
|
|
NM_205836.3(FBXO38):c.1062T>C (p.His354=)
|
|
|
NM_205836.3(FBXO38):c.1073T>A (p.Val358Glu)
|
|
|
NM_205836.3(FBXO38):c.1093+15A>C
|
|
|
NM_205836.3(FBXO38):c.1093+2T>A
|
rs1554079701
|
|
NM_205836.3(FBXO38):c.1094-11G>A
|
|
|
NM_205836.3(FBXO38):c.1094-14del
|
|
|
NM_205836.3(FBXO38):c.1094-17T>A
|
|
|
NM_205836.3(FBXO38):c.1094-6T>C
|
|
|
NM_205836.3(FBXO38):c.1094-8C>G
|
|
|
NM_205836.3(FBXO38):c.1094-8C>T
|
|
|
NM_205836.3(FBXO38):c.1096A>C (p.Arg366=)
|
|
|
NM_205836.3(FBXO38):c.1104T>C (p.Ala368=)
|
|
|
NM_205836.3(FBXO38):c.1109C>T (p.Ala370Val)
|
|
|
NM_205836.3(FBXO38):c.1123T>C (p.Tyr375His)
|
|
|
NM_205836.3(FBXO38):c.1132G>T (p.Ala378Ser)
|
|
|
NM_205836.3(FBXO38):c.1154G>T (p.Gly385Val)
|
rs1554080059
|
|
NM_205836.3(FBXO38):c.1156A>G (p.Ile386Val)
|
|
|
NM_205836.3(FBXO38):c.1159A>G (p.Ile387Val)
|
rs1271122205
|
|
NM_205836.3(FBXO38):c.1174A>G (p.Met392Val)
|
|
|
NM_205836.3(FBXO38):c.117C>T (p.Cys39=)
|
rs2113505913
|
|
NM_205836.3(FBXO38):c.1190A>G (p.Glu397Gly)
|
|
|
NM_205836.3(FBXO38):c.1202G>C (p.Cys401Ser)
|
|
|
NM_205836.3(FBXO38):c.1203T>C (p.Cys401=)
|
rs146977833
|
|
NM_205836.3(FBXO38):c.1208A>G (p.Lys403Arg)
|
|
|
NM_205836.3(FBXO38):c.1219A>G (p.Ile407Val)
|
|
|
NM_205836.3(FBXO38):c.1233T>C (p.Pro411=)
|
rs1581256311
|
|
NM_205836.3(FBXO38):c.1253A>G (p.Asn418Ser)
|
|
|
NM_205836.3(FBXO38):c.1258A>G (p.Ile420Val)
|
rs1752930598
|
|
NM_205836.3(FBXO38):c.1264+7C>A
|
rs748117269
|
|
NM_205836.3(FBXO38):c.1265-18A>T
|
|
|
NM_205836.3(FBXO38):c.1265-20T>G
|
|
|
NM_205836.3(FBXO38):c.1265-7T>G
|
|
|
NM_205836.3(FBXO38):c.1273A>G (p.Arg425Gly)
|
|
|
NM_205836.3(FBXO38):c.1275A>G (p.Arg425=)
|
rs1753027554
|
|
NM_205836.3(FBXO38):c.128+19G>A
|
|
|
NM_205836.3(FBXO38):c.128+6A>G
|
|
|
NM_205836.3(FBXO38):c.128+9G>T
|
rs1376941419
|
|
NM_205836.3(FBXO38):c.1283G>A (p.Arg428Gln)
|
|
|
NM_205836.3(FBXO38):c.1284A>G (p.Arg428=)
|
rs138223855
|
|
NM_205836.3(FBXO38):c.129-17T>C
|
|
|
NM_205836.3(FBXO38):c.1302A>T (p.Leu434=)
|
|
|
NM_205836.3(FBXO38):c.1307G>A (p.Arg436Gln)
|
|
|
NM_205836.3(FBXO38):c.1310G>T (p.Cys437Phe)
|
rs1554080351
|
|
NM_205836.3(FBXO38):c.1313A>G (p.His438Arg)
|
rs2113584557
|
|
NM_205836.3(FBXO38):c.1328A>G (p.Asp443Gly)
|
|
|
NM_205836.3(FBXO38):c.1329C>A (p.Asp443Glu)
|
rs770394960
|
|
NM_205836.3(FBXO38):c.1353A>C (p.Leu451Phe)
|
|
|
NM_205836.3(FBXO38):c.1357C>T (p.Pro453Ser)
|
|
|
NM_205836.3(FBXO38):c.1359C>T (p.Pro453=)
|
|
|
NM_205836.3(FBXO38):c.135C>G (p.Leu45=)
|
|
|
NM_205836.3(FBXO38):c.137C>T (p.Pro46Leu)
|
rs1403533819
|
|
NM_205836.3(FBXO38):c.1387A>C (p.Met463Leu)
|
rs2113584815
|
|
NM_205836.3(FBXO38):c.13A>C (p.Lys5Gln)
|
|
|
NM_205836.3(FBXO38):c.1407+14G>T
|
rs2113584936
|
|
NM_205836.3(FBXO38):c.1407+8A>G
|
|
|
NM_205836.3(FBXO38):c.1408-17T>C
|
|
|
NM_205836.3(FBXO38):c.1408-20G>A
|
|
|
NM_205836.3(FBXO38):c.1416T>C (p.Ala472=)
|
|
|
NM_205836.3(FBXO38):c.1417C>T (p.Arg473Ter)
|
rs1172459945
|
|
NM_205836.3(FBXO38):c.1418G>A (p.Arg473Gln)
|
rs770228743
|
|
NM_205836.3(FBXO38):c.1454C>G (p.Ser485Ter)
|
|
|
NM_205836.3(FBXO38):c.1458A>G (p.Ser486=)
|
rs751775711
|
|
NM_205836.3(FBXO38):c.1471A>C (p.Asn491His)
|
rs1561531225
|
|
NM_205836.3(FBXO38):c.1484A>G (p.Asn495Ser)
|
|
|
NM_205836.3(FBXO38):c.1487A>G (p.Asn496Ser)
|
rs1315072548
|
|
NM_205836.3(FBXO38):c.1492G>A (p.Asp498Asn)
|
|
|
NM_205836.3(FBXO38):c.1493A>G (p.Asp498Gly)
|
|
|
NM_205836.3(FBXO38):c.1513A>G (p.Asn505Asp)
|
rs1753101306
|
|
NM_205836.3(FBXO38):c.1518C>T (p.Ala506=)
|
rs2113589139
|
|
NM_205836.3(FBXO38):c.1533C>G (p.Asn511Lys)
|
|
|
NM_205836.3(FBXO38):c.1535A>G (p.Asn512Ser)
|
|
|
NM_205836.3(FBXO38):c.1537C>G (p.His513Asp)
|
rs1753104074
|
|
NM_205836.3(FBXO38):c.1554C>T (p.Asp518=)
|
|
|
NM_205836.3(FBXO38):c.155G>A (p.Cys52Tyr)
|
rs1400080044
|
|
NM_205836.3(FBXO38):c.1569T>C (p.Asn523=)
|
|
|
NM_205836.3(FBXO38):c.1570G>A (p.Asp524Asn)
|
rs2113589581
|
|
NM_205836.3(FBXO38):c.1576C>T (p.Arg526Trp)
|
|
|
NM_205836.3(FBXO38):c.157A>T (p.Met53Leu)
|
|
|
NM_205836.3(FBXO38):c.1608T>C (p.Phe536=)
|
rs2113589792
|
|
NM_205836.3(FBXO38):c.1617C>T (p.Asp539=)
|
|
|
NM_205836.3(FBXO38):c.1618+1G>T
|
rs1581261359
|
|
NM_205836.3(FBXO38):c.1619-13A>T
|
|
|
NM_205836.3(FBXO38):c.1619-15A>T
|
|
|
NM_205836.3(FBXO38):c.1619-6T>C
|
|
|
NM_205836.3(FBXO38):c.1619-7G>C
|
|
|
NM_205836.3(FBXO38):c.1619-8C>T
|
|
|
NM_205836.3(FBXO38):c.1638C>T (p.Asp546=)
|
rs1214333274
|
|
NM_205836.3(FBXO38):c.1641C>T (p.Ile547=)
|
|
|
NM_205836.3(FBXO38):c.1642G>A (p.Val548Ile)
|
rs751449877
|
|
NM_205836.3(FBXO38):c.1643T>G (p.Val548Gly)
|
rs1753582545
|
|
NM_205836.3(FBXO38):c.1660G>A (p.Val554Met)
|
|
|
NM_205836.3(FBXO38):c.1663G>A (p.Val555Met)
|
rs1012140873
|
|
NM_205836.3(FBXO38):c.1668C>T (p.Ala556=)
|
rs778114879
|
|
NM_205836.3(FBXO38):c.1669G>A (p.Glu557Lys)
|
|
|
NM_205836.3(FBXO38):c.1670A>G (p.Glu557Gly)
|
|
|
NM_205836.3(FBXO38):c.1678A>C (p.Asn560His)
|
|
|
NM_205836.3(FBXO38):c.1682A>G (p.Asn561Ser)
|
rs1554081337
|
|
NM_205836.3(FBXO38):c.1685C>A (p.Thr562Asn)
|
rs748051444
|
|
NM_205836.3(FBXO38):c.1689A>T (p.Pro563=)
|
|
|
NM_205836.3(FBXO38):c.1690G>C (p.Ala564Pro)
|
rs371915188
|
|
NM_205836.3(FBXO38):c.1717G>T (p.Asp573Tyr)
|
|
|
NM_205836.3(FBXO38):c.1720G>T (p.Val574Phe)
|
|
|
NM_205836.3(FBXO38):c.172C>T (p.Arg58Trp)
|
|
|
NM_205836.3(FBXO38):c.1738+7_1738+8del
|
|
|
NM_205836.3(FBXO38):c.1739-17C>G
|
|
|
NM_205836.3(FBXO38):c.1739-4del
|
|
|
NM_205836.3(FBXO38):c.1739-4dup
|
|
|
NM_205836.3(FBXO38):c.173G>T (p.Arg58Leu)
|
|
|
NM_205836.3(FBXO38):c.1757G>C (p.Arg586Pro)
|
rs369833842
|
|
NM_205836.3(FBXO38):c.1774T>G (p.Ser592Ala)
|
rs10043775
|
|
NM_205836.3(FBXO38):c.1788T>C (p.His596=)
|
|
|
NM_205836.3(FBXO38):c.1791T>G (p.Asp597Glu)
|
rs1554081566
|
|
NM_205836.3(FBXO38):c.17A>G (p.Lys6Arg)
|
|
|
NM_205836.3(FBXO38):c.1801G>T (p.Asp601Tyr)
|
rs2113621540
|
|
NM_205836.3(FBXO38):c.1805del (p.Asp602fs)
|
|
|
NM_205836.3(FBXO38):c.1806T>A (p.Asp602Glu)
|
rs1222414075
|
|
NM_205836.3(FBXO38):c.1813G>C (p.Asp605His)
|
|
|
NM_205836.3(FBXO38):c.1815T>C (p.Asp605=)
|
|
|
NM_205836.3(FBXO38):c.1829A>C (p.Gln610Pro)
|
rs771845635
|
|
NM_205836.3(FBXO38):c.183G>T (p.Lys61Asn)
|
|
|
NM_205836.3(FBXO38):c.1840A>G (p.Ile614Val)
|
|
|
NM_205836.3(FBXO38):c.1872A>T (p.Glu624Asp)
|
|
|
NM_205836.3(FBXO38):c.1874G>A (p.Arg625His)
|
|
|
NM_205836.3(FBXO38):c.1884A>G (p.Lys628=)
|
rs1432315334
|
|
NM_205836.3(FBXO38):c.188C>T (p.Ala63Val)
|
rs2113521830
|
|
NM_205836.3(FBXO38):c.1893G>A (p.Glu631=)
|
rs1293117799
|
|
NM_205836.3(FBXO38):c.1914G>A (p.Leu638=)
|
|
|
NM_205836.3(FBXO38):c.1914G>C (p.Leu638Phe)
|
|
|
NM_205836.3(FBXO38):c.1918+10T>C
|
|
|
NM_205836.3(FBXO38):c.1918+19C>G
|
rs2113622260
|
|
NM_205836.3(FBXO38):c.1918+3G>A
|
rs758236031
|
|
NM_205836.3(FBXO38):c.1918+8A>G
|
|
|
NM_205836.3(FBXO38):c.1918+9T>C
|
|
|
NM_205836.3(FBXO38):c.1919-2A>C
|
rs2113627058
|
|
NM_205836.3(FBXO38):c.1922G>A (p.Ser641Asn)
|
|
|
NM_205836.3(FBXO38):c.193A>G (p.Thr65Ala)
|
|
|
NM_205836.3(FBXO38):c.1941A>T (p.Pro647=)
|
|
|
NM_205836.3(FBXO38):c.1945C>T (p.Arg649Ter)
|
|
|
NM_205836.3(FBXO38):c.1946G>A (p.Arg649Gln)
|
|
|
NM_205836.3(FBXO38):c.1953G>C (p.Arg651Ser)
|
rs2113627223
|
|
NM_205836.3(FBXO38):c.1970T>A (p.Met657Lys)
|
rs1753763617
|
|
NM_205836.3(FBXO38):c.1977G>A (p.Gln659=)
|
|
|
NM_205836.3(FBXO38):c.1989T>G (p.Phe663Leu)
|
|
|
NM_205836.3(FBXO38):c.1991C>T (p.Pro664Leu)
|
|
|
NM_205836.3(FBXO38):c.1995C>T (p.Leu665=)
|
|
|
NM_205836.3(FBXO38):c.199T>A (p.Tyr67Asn)
|
rs1751991718
|
|
NM_205836.3(FBXO38):c.1A>G (p.Met1Val)
|
rs1758391504
|
|
NM_205836.3(FBXO38):c.2008T>C (p.Cys670Arg)
|
|
|
NM_205836.3(FBXO38):c.2050G>T (p.Asp684Tyr)
|
|
|
NM_205836.3(FBXO38):c.2052T>C (p.Asp684=)
|
rs2113627556
|
|
NM_205836.3(FBXO38):c.2057A>C (p.Lys686Thr)
|
|
|
NM_205836.3(FBXO38):c.2062G>T (p.Ala688Ser)
|
|
|
NM_205836.3(FBXO38):c.2069A>T (p.Asp690Val)
|
|
|
NM_205836.3(FBXO38):c.2072T>C (p.Ile691Thr)
|
rs765514195
|
|
NM_205836.3(FBXO38):c.2075C>T (p.Pro692Leu)
|
rs1581280139
|
|
NM_205836.3(FBXO38):c.2085A>G (p.Lys695=)
|
rs2113627744
|
|
NM_205836.3(FBXO38):c.2089A>G (p.Asn697Asp)
|
|
|
NM_205836.3(FBXO38):c.2096A>T (p.Asp699Val)
|
rs1262248200
|
|
NM_205836.3(FBXO38):c.209T>C (p.Val70Ala)
|
|
|
NM_205836.3(FBXO38):c.2114G>A (p.Ser705Asn)
|
|
|
NM_205836.3(FBXO38):c.2128A>G (p.Ser710Gly)
|
rs2113627979
|
|
NM_205836.3(FBXO38):c.2131A>C (p.Thr711Pro)
|
|
|
NM_205836.3(FBXO38):c.2134G>C (p.Val712Leu)
|
rs1753773505
|
|
NM_205836.3(FBXO38):c.2135T>C (p.Val712Ala)
|
|
|
NM_205836.3(FBXO38):c.2152C>T (p.His718Tyr)
|
|
|
NM_205836.3(FBXO38):c.2157C>T (p.Asn719=)
|
|
|
NM_205836.3(FBXO38):c.2164T>C (p.Ser722Pro)
|
|
|
NM_205836.3(FBXO38):c.216A>G (p.Arg72=)
|
rs1751992559
|
|
NM_205836.3(FBXO38):c.2171G>A (p.Ser724Asn)
|
|
|
NM_205836.3(FBXO38):c.2177A>C (p.Asp726Ala)
|
rs2113628246
|
|
NM_205836.3(FBXO38):c.2182G>A (p.Val728Ile)
|
rs763198382
|
|
NM_205836.3(FBXO38):c.218_247del (p.Val73_Trp82del)
|
rs1751992784
|
|
NM_205836.3(FBXO38):c.2196C>T (p.Asn732=)
|
rs1436645762
|
|
NM_205836.3(FBXO38):c.2215C>A (p.Pro739Thr)
|
|
|
NM_205836.3(FBXO38):c.2223T>C (p.Pro741=)
|
|
|
NM_205836.3(FBXO38):c.2226A>T (p.Thr742=)
|
rs201175127
|
|
NM_205836.3(FBXO38):c.2231T>C (p.Val744Ala)
|
|
|
NM_205836.3(FBXO38):c.2257T>G (p.Ser753Ala)
|
rs1188977922
|
|
NM_205836.3(FBXO38):c.2263G>A (p.Gly755Ser)
|
|
|
NM_205836.3(FBXO38):c.2265T>G (p.Gly755=)
|
|
|
NM_205836.3(FBXO38):c.2275G>A (p.Asp759Asn)
|
rs1300558545
|
|
NM_205836.3(FBXO38):c.228C>T (p.Leu76=)
|
|
|
NM_205836.3(FBXO38):c.2295G>A (p.Glu765=)
|
|
|
NM_205836.3(FBXO38):c.22G>A (p.Val8Met)
|
|
|
NM_205836.3(FBXO38):c.2326T>C (p.Cys776Arg)
|
rs1400525129
|
|
NM_205836.3(FBXO38):c.2331C>T (p.Cys777=)
|
rs1027047013
|
|
NM_205836.3(FBXO38):c.2338A>G (p.Arg780Gly)
|
|
|
NM_205836.3(FBXO38):c.2340G>T (p.Arg780Ser)
|
rs143193609
|
|
NM_205836.3(FBXO38):c.2341C>A (p.Pro781Thr)
|
rs116266000
|
|
NM_205836.3(FBXO38):c.234A>G (p.Ala78=)
|
rs2113522018
|
|
NM_205836.3(FBXO38):c.2362A>C (p.Thr788Pro)
|
|
|
NM_205836.3(FBXO38):c.2367C>G (p.Ser789Arg)
|
|
|
NM_205836.3(FBXO38):c.2377G>A (p.Asp793Asn)
|
|
|
NM_205836.3(FBXO38):c.2378A>G (p.Asp793Gly)
|
|
|
NM_205836.3(FBXO38):c.238C>T (p.Arg80Trp)
|
|
|
NM_205836.3(FBXO38):c.2395A>G (p.Thr799Ala)
|
|
|
NM_205836.3(FBXO38):c.2402G>T (p.Arg801Leu)
|
rs751618541
|
|
NM_205836.3(FBXO38):c.2404G>A (p.Ala802Thr)
|
|
|
NM_205836.3(FBXO38):c.2407T>C (p.Cys803Arg)
|
rs1161148986
|
|
NM_205836.3(FBXO38):c.2421C>G (p.Gly807=)
|
rs1581281621
|
|
NM_205836.3(FBXO38):c.2425G>T (p.Asp809Tyr)
|
|
|
NM_205836.3(FBXO38):c.2426A>C (p.Asp809Ala)
|
|
|
NM_205836.3(FBXO38):c.2432C>T (p.Thr811Met)
|
|
|
NM_205836.3(FBXO38):c.2434A>C (p.Arg812=)
|
|
|
NM_205836.3(FBXO38):c.2439C>T (p.Ser813=)
|
|
|
NM_205836.3(FBXO38):c.2440G>A (p.Ala814Thr)
|
rs201680339
|
|
NM_205836.3(FBXO38):c.2440G>T (p.Ala814Ser)
|
|
|
NM_205836.3(FBXO38):c.2447C>T (p.Ser816Phe)
|
|
|
NM_205836.3(FBXO38):c.247G>A (p.Glu83Lys)
|
|
|
NM_205836.3(FBXO38):c.261T>A (p.Ser87Arg)
|
|
|
NM_205836.3(FBXO38):c.262+7G>A
|
rs2113522185
|
|
NM_205836.3(FBXO38):c.263-13C>G
|
|
|
NM_205836.3(FBXO38):c.263-8C>T
|
rs2113531734
|
|
NM_205836.3(FBXO38):c.2654-20T>C
|
|
|
NM_205836.3(FBXO38):c.2671C>T (p.Pro891Ser)
|
|
|
NM_205836.3(FBXO38):c.2684T>C (p.Met895Thr)
|
|
|
NM_205836.3(FBXO38):c.2700A>G (p.Thr900=)
|
|
|
NM_205836.3(FBXO38):c.2714C>G (p.Thr905Ser)
|
|
|
NM_205836.3(FBXO38):c.2746C>T (p.His916Tyr)
|
rs2113648332
|
|
NM_205836.3(FBXO38):c.274G>T (p.Ala92Ser)
|
|
|
NM_205836.3(FBXO38):c.2754+12dup
|
rs778971526
|
|
NM_205836.3(FBXO38):c.2754+13C>A
|
|
|
NM_205836.3(FBXO38):c.2755-11T>A
|
rs2113648657
|
|
NM_205836.3(FBXO38):c.2755-19C>T
|
rs1754167640
|
|
NM_205836.3(FBXO38):c.2755G>A (p.Val919Ile)
|
rs1554082512
|
|
NM_205836.3(FBXO38):c.2800A>T (p.Asn934Tyr)
|
|
|
NM_205836.3(FBXO38):c.2818C>G (p.Leu940Val)
|
rs1347172293
|
|
NM_205836.3(FBXO38):c.2857+13G>T
|
rs2113649139
|
|
NM_205836.3(FBXO38):c.2857+21_2857+23del
|
rs143121025
|
|
NM_205836.3(FBXO38):c.2857+3A>G
|
|
|
NM_205836.3(FBXO38):c.2857+7A>G
|
|
|
NM_205836.3(FBXO38):c.2858-9A>C
|
|
|
NM_205836.3(FBXO38):c.2904A>G (p.Pro968=)
|
rs2113663254
|
|
NM_205836.3(FBXO38):c.2905A>G (p.Ile969Val)
|
rs373620719
|
|
NM_205836.3(FBXO38):c.2908G>T (p.Val970Leu)
|
rs1754471311
|
|
NM_205836.3(FBXO38):c.2915G>A (p.Arg972Gln)
|
|
|
NM_205836.3(FBXO38):c.2924A>G (p.Tyr975Cys)
|
|
|
NM_205836.3(FBXO38):c.2941C>G (p.Leu981Val)
|
|
|
NM_205836.3(FBXO38):c.2955G>A (p.Gln985=)
|
rs2113663411
|
|
NM_205836.3(FBXO38):c.2964C>T (p.Asp988=)
|
rs1581309185
|
|
NM_205836.3(FBXO38):c.2978T>C (p.Met993Thr)
|
|
|
NM_205836.3(FBXO38):c.2981C>T (p.Pro994Leu)
|
|
|
NM_205836.3(FBXO38):c.2985C>G (p.Pro995=)
|
rs144172824
|
|
NM_205836.3(FBXO38):c.2993A>G (p.Asn998Ser)
|
rs1293617168
|
|
NM_205836.3(FBXO38):c.2997C>T (p.Arg999=)
|
rs1581309331
|
|
NM_205836.3(FBXO38):c.3001A>G (p.Ile1001Val)
|
|
|
NM_205836.3(FBXO38):c.3021G>A (p.Gln1007=)
|
|
|
NM_205836.3(FBXO38):c.3024+6G>A
|
rs146510581
|
|
NM_205836.3(FBXO38):c.3025-18_3025-17del
|
|
|
NM_205836.3(FBXO38):c.3025-18_3025-17insA
|
|
|
NM_205836.3(FBXO38):c.3032C>T (p.Thr1011Ile)
|
|
|
NM_205836.3(FBXO38):c.3051G>A (p.Lys1017=)
|
rs1422351313
|
|
NM_205836.3(FBXO38):c.3066C>T (p.Pro1022=)
|
rs895981912
|
|
NM_205836.3(FBXO38):c.3105C>A (p.Asn1035Lys)
|
|
|
NM_205836.3(FBXO38):c.310G>A (p.Val104Ile)
|
|
|
NM_205836.3(FBXO38):c.3119G>A (p.Arg1040Gln)
|
|
|
NM_205836.3(FBXO38):c.3131G>A (p.Arg1044His)
|
rs1754565238
|
|
NM_205836.3(FBXO38):c.3136C>T (p.Arg1046Cys)
|
|
|
NM_205836.3(FBXO38):c.3137G>A (p.Arg1046His)
|
rs145142109
|
|
NM_205836.3(FBXO38):c.3140G>A (p.Ser1047Asn)
|
rs1208732580
|
|
NM_205836.3(FBXO38):c.3152C>T (p.Thr1051Ile)
|
|
|
NM_205836.3(FBXO38):c.3164T>C (p.Ile1055Thr)
|
|
|
NM_205836.3(FBXO38):c.3170+11_3170+12delinsCC
|
|
|
NM_205836.3(FBXO38):c.3177C>T (p.Leu1059=)
|
|
|
NM_205836.3(FBXO38):c.3185A>G (p.Tyr1062Cys)
|
|
|
NM_205836.3(FBXO38):c.3210A>C (p.Arg1070=)
|
|
|
NM_205836.3(FBXO38):c.3212G>C (p.Ser1071Thr)
|
rs1044917671
|
|
NM_205836.3(FBXO38):c.3216AGA[1] (p.Glu1073del)
|
|
|
NM_205836.3(FBXO38):c.3218A>T (p.Glu1073Val)
|
rs1581313648
|
|
NM_205836.3(FBXO38):c.3223T>G (p.Leu1075Val)
|
|
|
NM_205836.3(FBXO38):c.3226A>G (p.Lys1076Glu)
|
|
|
NM_205836.3(FBXO38):c.3244C>G (p.Pro1082Ala)
|
rs1754612690
|
|
NM_205836.3(FBXO38):c.3246C>T (p.Pro1082=)
|
rs959005458
|
|
NM_205836.3(FBXO38):c.3264T>C (p.Tyr1088=)
|
|
|
NM_205836.3(FBXO38):c.3265A>C (p.Thr1089Pro)
|
rs1049321456
|
|
NM_205836.3(FBXO38):c.326G>A (p.Gly109Asp)
|
rs2113531978
|
|
NM_205836.3(FBXO38):c.3274+10T>C
|
|
|
NM_205836.3(FBXO38):c.3274+16T>C
|
|
|
NM_205836.3(FBXO38):c.3274+19T>G
|
|
|
NM_205836.3(FBXO38):c.3274+4A>T
|
|
|
NM_205836.3(FBXO38):c.3275-13A>G
|
|
|
NM_205836.3(FBXO38):c.3275-4T>C
|
|
|
NM_205836.3(FBXO38):c.3284A>T (p.Asp1095Val)
|
|
|
NM_205836.3(FBXO38):c.3312C>T (p.Asp1104=)
|
rs2113671150
|
|
NM_205836.3(FBXO38):c.3335G>A (p.Arg1112Gln)
|
|
|
NM_205836.3(FBXO38):c.333C>T (p.His111=)
|
|
|
NM_205836.3(FBXO38):c.3354C>G (p.Ser1118Arg)
|
rs147580008
|
|
NM_205836.3(FBXO38):c.3357C>T (p.Phe1119=)
|
rs577469242
|
|
NM_205836.3(FBXO38):c.3366C>T (p.Tyr1122=)
|
|
|
NM_205836.3(FBXO38):c.3367G>A (p.Asp1123Asn)
|
|
|
NM_205836.3(FBXO38):c.3369C>T (p.Asp1123=)
|
rs2113671331
|
|
NM_205836.3(FBXO38):c.337C>T (p.Arg113Ter)
|
rs1306910725
|
|
NM_205836.3(FBXO38):c.3383A>G (p.Glu1128Gly)
|
|
|
NM_205836.3(FBXO38):c.3384A>G (p.Glu1128=)
|
|
|
NM_205836.3(FBXO38):c.3387A>C (p.Glu1129Asp)
|
|
|
NM_205836.3(FBXO38):c.3388+12C>A
|
rs2113671439
|
|
NM_205836.3(FBXO38):c.3388+7A>G
|
rs2113671422
|
|
NM_205836.3(FBXO38):c.3392C>G (p.Thr1131Ser)
|
|
|
NM_205836.3(FBXO38):c.341A>G (p.Tyr114Cys)
|
rs1433144114
|
|
NM_205836.3(FBXO38):c.3423G>C (p.Leu1141=)
|
rs1754712234
|
|
NM_205836.3(FBXO38):c.3433A>T (p.Ile1145Phe)
|
|
|
NM_205836.3(FBXO38):c.3446C>T (p.Thr1149Ile)
|
rs2113673143
|
|
NM_205836.3(FBXO38):c.345T>G (p.Leu115=)
|
|
|
NM_205836.3(FBXO38):c.3472C>T (p.Arg1158Cys)
|
|
|
NM_205836.3(FBXO38):c.3473G>T (p.Arg1158Leu)
|
|
|
NM_205836.3(FBXO38):c.34A>G (p.Ile12Val)
|
rs1160174748
|
|
NM_205836.3(FBXO38):c.3528T>C (p.Cys1176=)
|
rs1168641854
|
|
NM_205836.3(FBXO38):c.3547G>C (p.Val1183Leu)
|
|
|
NM_205836.3(FBXO38):c.3555T>C (p.Asp1185=)
|
|
|
NM_205836.3(FBXO38):c.3558C>T (p.Asp1186=)
|
|
|
NM_205836.3(FBXO38):c.3562A>T (p.Ile1188Phe)
|
|
|
NM_205836.3(FBXO38):c.358G>T (p.Val120Leu)
|
rs2113532084
|
|
NM_205836.3(FBXO38):c.373G>A (p.Ala125Thr)
|
|
|
NM_205836.3(FBXO38):c.376T>C (p.Phe126Leu)
|
|
|
NM_205836.3(FBXO38):c.37A>T (p.Met13Leu)
|
|
|
NM_205836.3(FBXO38):c.396A>G (p.Leu132=)
|
|
|
NM_205836.3(FBXO38):c.405G>T (p.Leu135Phe)
|
|
|
NM_205836.3(FBXO38):c.427-18T>C
|
|
|
NM_205836.3(FBXO38):c.432G>A (p.Val144=)
|
rs911073783
|
|
NM_205836.3(FBXO38):c.448G>A (p.Glu150Lys)
|
|
|
NM_205836.3(FBXO38):c.451T>C (p.Leu151=)
|
rs2113533109
|
|
NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter)
|
|
|
NM_205836.3(FBXO38):c.474T>A (p.Tyr158Ter)
|
rs2113533186
|
|
NM_205836.3(FBXO38):c.474T>C (p.Tyr158=)
|
rs2113533186
|
|
NM_205836.3(FBXO38):c.481C>T (p.His161Tyr)
|
|
|
NM_205836.3(FBXO38):c.484G>T (p.Val162Phe)
|
rs2113533252
|
|
NM_205836.3(FBXO38):c.497G>A (p.Gly166Glu)
|
rs1404180680
|
|
NM_205836.3(FBXO38):c.4G>A (p.Gly2Arg)
|
rs1272218730
|
|
NM_205836.3(FBXO38):c.505C>T (p.Arg169Cys)
|
|
|
NM_205836.3(FBXO38):c.512G>A (p.Arg171His)
|
|
|
NM_205836.3(FBXO38):c.51T>C (p.Ile17=)
|
rs751405536
|
|
NM_205836.3(FBXO38):c.525T>C (p.Phe175=)
|
|
|
NM_205836.3(FBXO38):c.534T>C (p.Pro178=)
|
|
|
NM_205836.3(FBXO38):c.547C>T (p.Leu183=)
|
|
|
NM_205836.3(FBXO38):c.560T>C (p.Ile187Thr)
|
rs1470214468
|
|
NM_205836.3(FBXO38):c.592+3G>A
|
|
|
NM_205836.3(FBXO38):c.592+9A>G
|
|
|
NM_205836.3(FBXO38):c.593-19T>C
|
|
|
NM_205836.3(FBXO38):c.593-19T>G
|
|
|
NM_205836.3(FBXO38):c.606T>G (p.Pro202=)
|
|
|
NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg)
|
rs398122838
|
|
NM_205836.3(FBXO38):c.617G>C (p.Cys206Ser)
|
rs757064226
|
|
NM_205836.3(FBXO38):c.61A>G (p.Met21Val)
|
rs1581225783
|
|
NM_205836.3(FBXO38):c.62T>C (p.Met21Thr)
|
|
|
NM_205836.3(FBXO38):c.633G>C (p.Arg211Ser)
|
rs779718633
|
|
NM_205836.3(FBXO38):c.634C>T (p.His212Tyr)
|
rs746462800
|
|
NM_205836.3(FBXO38):c.641A>G (p.Tyr214Cys)
|
|
|
NM_205836.3(FBXO38):c.679A>C (p.Lys227Gln)
|
rs1581241597
|
|
NM_205836.3(FBXO38):c.688C>A (p.Leu230Ile)
|
rs763481232
|
|
NM_205836.3(FBXO38):c.696C>T (p.Ile232=)
|
|
|
NM_205836.3(FBXO38):c.698G>A (p.Ser233Asn)
|
|
|
NM_205836.3(FBXO38):c.703A>G (p.Arg235Gly)
|
|
|
NM_205836.3(FBXO38):c.707C>T (p.Thr236Ile)
|
|
|
NM_205836.3(FBXO38):c.711C>T (p.Phe237=)
|
rs199969692
|
|
NM_205836.3(FBXO38):c.712G>A (p.Val238Ile)
|
rs144890577
|
|
NM_205836.3(FBXO38):c.712G>C (p.Val238Leu)
|
rs144890577
|
|
NM_205836.3(FBXO38):c.71A>G (p.Asp24Gly)
|
|
|
NM_205836.3(FBXO38):c.730+14A>G
|
|
|
NM_205836.3(FBXO38):c.730+17A>G
|
|
|
NM_205836.3(FBXO38):c.730+8T>G
|
|
|
NM_205836.3(FBXO38):c.731-12T>C
|
|
|
NM_205836.3(FBXO38):c.731-20A>C
|
|
|
NM_205836.3(FBXO38):c.731-5dup
|
rs201558003
|
|
NM_205836.3(FBXO38):c.731-6_731-5dup
|
rs201558003
|
|
NM_205836.3(FBXO38):c.736A>T (p.Thr246Ser)
|
|
|
NM_205836.3(FBXO38):c.753T>C (p.Tyr251=)
|
|
|
NM_205836.3(FBXO38):c.767C>T (p.Thr256Ile)
|
|
|
NM_205836.3(FBXO38):c.771C>T (p.Gly257=)
|
rs1581244170
|
|
NM_205836.3(FBXO38):c.783C>T (p.Ala261=)
|
rs764322313
|
|
NM_205836.3(FBXO38):c.786A>G (p.Arg262=)
|
|
|
NM_205836.3(FBXO38):c.789C>T (p.Asn263=)
|
rs2113547963
|
|
NM_205836.3(FBXO38):c.798C>T (p.His266=)
|
rs2113547993
|
|
NM_205836.3(FBXO38):c.801A>T (p.Leu267Phe)
|
|
|
NM_205836.3(FBXO38):c.811C>A (p.Arg271=)
|
|
|
NM_205836.3(FBXO38):c.814G>A (p.Val272Ile)
|
|
|
NM_205836.3(FBXO38):c.856A>G (p.Ser286Gly)
|
|
|
NM_205836.3(FBXO38):c.862A>C (p.Arg288=)
|
|
|
NM_205836.3(FBXO38):c.868+12_868+15del
|
rs2113548210
|
|
NM_205836.3(FBXO38):c.869G>A (p.Gly290Asp)
|
|
|
NM_205836.3(FBXO38):c.880A>T (p.Asn294Tyr)
|
rs1752601349
|
|
NM_205836.3(FBXO38):c.888C>T (p.His296=)
|
|
|
NM_205836.3(FBXO38):c.892A>G (p.Ile298Val)
|
|
|
NM_205836.3(FBXO38):c.898C>G (p.Leu300Val)
|
|
|
NM_205836.3(FBXO38):c.911A>G (p.Lys304Arg)
|
|
|
NM_205836.3(FBXO38):c.919C>T (p.Leu307Phe)
|
|
|
NM_205836.3(FBXO38):c.926T>G (p.Val309Gly)
|
rs1752606337
|
|
NM_205836.3(FBXO38):c.933T>G (p.Leu311=)
|
|
|
NM_205836.3(FBXO38):c.942C>T (p.Leu314=)
|
|
|
NM_205836.3(FBXO38):c.962+12C>G
|
|
|
NM_205836.3(FBXO38):c.962+20T>C
|
rs2113558593
|
|
NM_205836.3(FBXO38):c.963-16C>G
|
|
|
NM_205836.3(FBXO38):c.976C>T (p.Arg326Trp)
|
rs763613189
|
|
NM_205836.3(FBXO38):c.981C>G (p.Ile327Met)
|
|
|
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr)
|
rs1568003520
|
|
NM_207346.3(TSEN54):c.1280T>C (p.Leu427Pro)
|
rs2053450384
|
|
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)
|
rs797046054
|
|
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)
|
rs797046055
|
|
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser)
|
rs1598480419
|
|
NM_207346.3(TSEN54):c.167G>A (p.Arg56His)
|
rs1281448557
|
|
NM_207346.3(TSEN54):c.175C>G (p.Arg59Gly)
|
|
|
NM_207346.3(TSEN54):c.823del (p.Val275fs)
|
rs797046057
|
|
NM_207346.3(TSEN54):c.940del (p.Leu314fs)
|
rs1012275384
|
|
NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu)
|
|
|
NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr)
|
|
|
NM_213720.3(CHCHD10):c.109G>A (p.Ala37Thr)
|
rs752472094
|
|
NM_213720.3(CHCHD10):c.116C>T (p.Ser39Leu)
|
rs1569151061
|
|
NM_213720.3(CHCHD10):c.129G>A (p.Gly43=)
|
|
|
NM_213720.3(CHCHD10):c.134T>A (p.Met45Lys)
|
|
|
NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp)
|
|
|
NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val)
|
|
|
NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser)
|
|
|
NM_213720.3(CHCHD10):c.159A>G (p.Ala53=)
|
|
|
NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu)
|
|
|
NM_213720.3(CHCHD10):c.162G>T (p.Gly54=)
|
|
|
NM_213720.3(CHCHD10):c.168C>G (p.Ala56=)
|
rs13053635
|
|
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)
|
|
|
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)
|
rs587777574
|
|
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile)
|
rs781304084
|
|
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp)
|
rs730880031
|
|
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val)
|
rs730880031
|
|
NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn)
|
rs1926926045
|
|
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val)
|
rs1926925550
|
|
NM_213720.3(CHCHD10):c.207G>A (p.Leu69=)
|
|
|
NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg)
|
rs2145926804
|
|
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro)
|
rs542541060
|
|
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)
|
|
|
NM_213720.3(CHCHD10):c.21C>T (p.Ser7=)
|
rs984321947
|
|
NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)
|
|
|
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu)
|
rs767069606
|
|
NM_213720.3(CHCHD10):c.228G>T (p.Gly76=)
|
|
|
NM_213720.3(CHCHD10):c.231C>T (p.Ser77=)
|
|
|
NM_213720.3(CHCHD10):c.234G>C (p.Ser78=)
|
|
|
NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys)
|
rs1555925855
|
|
NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro)
|
|
|
NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)
|
|
|
NM_213720.3(CHCHD10):c.24G>A (p.Ala8=)
|
rs1926992574
|
|
NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro)
|
|
|
NM_213720.3(CHCHD10):c.261+10G>C
|
|
|
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
|
|
|
NM_213720.3(CHCHD10):c.261+11_261+12delinsGC
|
|
|
NM_213720.3(CHCHD10):c.261+17A>G
|
rs754940184
|
|
NM_213720.3(CHCHD10):c.261+7A>G
|
rs2145926622
|
|
NM_213720.3(CHCHD10):c.262-11T>A
|
|
|
NM_213720.3(CHCHD10):c.262-14C>T
|
rs1419450340
|
|
NM_213720.3(CHCHD10):c.262-18C>T
|
|
|
NM_213720.3(CHCHD10):c.262-3C>G
|
rs867521564
|
|
NM_213720.3(CHCHD10):c.262-4C>G
|
|
|
NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser)
|
rs1926806684
|
|
NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp)
|
rs564469294
|
|
NM_213720.3(CHCHD10):c.267C>T (p.Pro89=)
|
|
|
NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)
|
|
|
NM_213720.3(CHCHD10):c.274del (p.Ala92fs)
|
|
|
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)
|
rs1252496774
|
|
NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter)
|
rs1926798746
|
|
NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg)
|
rs1348340557
|
|
NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg)
|
rs1926995828
|
|
NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu)
|
rs776781535
|
|
NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr)
|
|
|
NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val)
|
rs2145924358
|
|
NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter)
|
rs9153
|
|
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)
|
rs9153
|
|
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)
|
rs9153
|
|
NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)
|
|
|
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly)
|
rs951686050
|
|
NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)
|
|
|
NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)
|
|
|
NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)
|
|
|
NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly)
|
rs750293377
|
|
NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg)
|
rs964013488
|
|
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys)
|
rs931085449
|
|
NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn)
|
rs1926782349
|
|
NM_213720.3(CHCHD10):c.354C>T (p.Asp118=)
|
|
|
NM_213720.3(CHCHD10):c.357G>T (p.Leu119=)
|
|
|
NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)
|
|
|
NM_213720.3(CHCHD10):c.361C>T (p.Leu121=)
|
|
|
NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)
|
|
|
NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn)
|
rs1601354726
|
|
NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)
|
|
|
NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr)
|
|
|
NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro)
|
rs1569149526
|
|
NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg)
|
rs2145924084
|
|
NM_213720.3(CHCHD10):c.38C>T (p.Ala13Val)
|
rs1926990244
|
|
NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)
|
|
|
NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)
|
|
|
NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)
|
|
|
NM_213720.3(CHCHD10):c.409+11G>C
|
|
|
NM_213720.3(CHCHD10):c.409+15C>G
|
|
|
NM_213720.3(CHCHD10):c.409+17C>T
|
|
|
NM_213720.3(CHCHD10):c.409+18G>A
|
|
|
NM_213720.3(CHCHD10):c.409+27G>C
|
rs140182
|
|
NM_213720.3(CHCHD10):c.41+17G>A
|
|
|
NM_213720.3(CHCHD10):c.41+9G>A
|
|
|
NM_213720.3(CHCHD10):c.410-13C>T
|
|
|
NM_213720.3(CHCHD10):c.410-15C>G
|
|
|
NM_213720.3(CHCHD10):c.410-3C>G
|
|
|
NM_213720.3(CHCHD10):c.410-3C>T
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rs767630947
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NM_213720.3(CHCHD10):c.410-8del
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rs759453467
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NM_213720.3(CHCHD10):c.412C>T (p.Leu138=)
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NM_213720.3(CHCHD10):c.42-10A>G
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NM_213720.3(CHCHD10):c.42-15C>T
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NM_213720.3(CHCHD10):c.42-18T>C
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NM_213720.3(CHCHD10):c.42-4G>T
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NM_213720.3(CHCHD10):c.42-5C>G
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rs868345557
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NM_213720.3(CHCHD10):c.42-5C>T
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rs868345557
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NM_213720.3(CHCHD10):c.42-5del
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rs1926955562
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NM_213720.3(CHCHD10):c.42-6C>G
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NM_213720.3(CHCHD10):c.42-9C>T
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NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr)
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rs1294246273
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NM_213720.3(CHCHD10):c.42C>T (p.Ser14=)
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rs1447212146
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NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)
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NM_213720.3(CHCHD10):c.44G>A (p.Arg15His)
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rs730880030
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NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)
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rs730880030
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NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu)
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rs2145927350
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NM_213720.3(CHCHD10):c.48A>T (p.Pro16=)
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NM_213720.3(CHCHD10):c.54G>A (p.Ala18=)
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rs1344583612
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NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser)
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rs1926950297
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NM_213720.3(CHCHD10):c.57C>T (p.Pro19=)
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rs1381948310
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NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
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NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser)
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rs917149626
|
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NM_213720.3(CHCHD10):c.75G>A (p.Ala25=)
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NM_213720.3(CHCHD10):c.75G>C (p.Ala25=)
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NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
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NM_213720.3(CHCHD10):c.82C>T (p.Pro28Ser)
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rs2145927205
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NM_213720.3(CHCHD10):c.84G>T (p.Pro28=)
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NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
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NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro)
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rs766426370
|
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NM_213720.3(CHCHD10):c.95C>G (p.Ala32Gly)
|
|
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NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
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NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)
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NM_213720.3(CHCHD10):c.9G>A (p.Arg3=)
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rs1165025561
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Single allele
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TSEN54:c.[277T>C;919G>T]
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