ClinVar Miner

List of variants studied for anterior horn disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15066
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HGVS dbSNP gnomAD frequency
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=)
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
NM_000052.7(ATP7A):c.4123+17T>C
NM_000052.7(ATP7A):c.4123+17T>G
NM_000052.7(ATP7A):c.4124-13A>G
NM_000052.7(ATP7A):c.4124-16C>T
NM_000052.7(ATP7A):c.4124-17C>A
NM_000052.7(ATP7A):c.4124-3T>C
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=)
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=)
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
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)
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=)
NM_004082.5(DCTN1):c.1287+12C>T
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 rs767630947
NM_213720.3(CHCHD10):c.410-8del rs759453467
NM_213720.3(CHCHD10):c.412C>T (p.Leu138=)
NM_213720.3(CHCHD10):c.42-10A>G
NM_213720.3(CHCHD10):c.42-15C>T
NM_213720.3(CHCHD10):c.42-18T>C
NM_213720.3(CHCHD10):c.42-4G>T
NM_213720.3(CHCHD10):c.42-5C>G rs868345557
NM_213720.3(CHCHD10):c.42-5C>T rs868345557
NM_213720.3(CHCHD10):c.42-5del rs1926955562
NM_213720.3(CHCHD10):c.42-6C>G
NM_213720.3(CHCHD10):c.42-9C>T
NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr) rs1294246273
NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) rs1447212146
NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)
NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) rs730880030
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu) rs2145927350
NM_213720.3(CHCHD10):c.48A>T (p.Pro16=)
NM_213720.3(CHCHD10):c.54G>A (p.Ala18=) rs1344583612
NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser) rs1926950297
NM_213720.3(CHCHD10):c.57C>T (p.Pro19=) rs1381948310
NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser) rs917149626
NM_213720.3(CHCHD10):c.75G>A (p.Ala25=)
NM_213720.3(CHCHD10):c.75G>C (p.Ala25=)
NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
NM_213720.3(CHCHD10):c.82C>T (p.Pro28Ser) rs2145927205
NM_213720.3(CHCHD10):c.84G>T (p.Pro28=)
NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro) rs766426370
NM_213720.3(CHCHD10):c.95C>G (p.Ala32Gly)
NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)
NM_213720.3(CHCHD10):c.9G>A (p.Arg3=) rs1165025561
Single allele
TSEN54:c.[277T>C;919G>T]

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