NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
0.00041
|
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser)
|
rs144466778
|
0.00034
|
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)
|
rs200641225
|
0.00034
|
NM_004960.4(FUS):c.188A>G (p.Asn63Ser)
|
rs140883211
|
0.00033
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)
|
rs145056421
|
0.00029
|
NM_004082.5(DCTN1):c.3029+6G>T
|
rs754143116
|
0.00029
|
NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln)
|
rs149682441
|
0.00029
|
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu)
|
rs572530276
|
0.00026
|
NM_021815.5(SLC5A7):c.1177A>G (p.Thr393Ala)
|
rs75427357
|
0.00026
|
NM_213720.3(CHCHD10):c.409+1G>A
|
rs367684804
|
0.00025
|
NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys)
|
rs147724326
|
0.00023
|
NM_000454.5(SOD1):c.239+6A>C
|
rs374610141
|
0.00022
|
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)
|
rs80356715
|
0.00022
|
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp)
|
rs201178873
|
0.00021
|
NM_205836.3(FBXO38):c.3379G>A (p.Asp1127Asn)
|
rs145662452
|
0.00021
|
NM_003334.4(UBA1):c.1049G>A (p.Arg350His)
|
rs5906354
|
0.00020
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_021815.5(SLC5A7):c.1645C>A (p.Gln549Lys)
|
rs1280034815
|
0.00020
|
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)
|
rs140066692
|
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_205836.3(FBXO38):c.1861C>T (p.Arg621Cys)
|
rs146121161
|
0.00019
|
NM_003334.4(UBA1):c.2878G>T (p.Val960Leu)
|
rs186224021
|
0.00018
|
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly)
|
rs545080321
|
0.00018
|
NM_003334.4(UBA1):c.904A>G (p.Ser302Gly)
|
rs200541240
|
0.00017
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met)
|
rs148535388
|
0.00017
|
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)
|
rs186547381
|
0.00016
|
NM_020631.6(PLEKHG5):c.2614C>T (p.His872Tyr)
|
rs372143370
|
0.00016
|
NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu)
|
rs143585428
|
0.00016
|
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser)
|
rs200152247
|
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_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_000344.4(SMN1):c.864G>T (p.Arg288Ser)
|
rs368899583
|
0.00014
|
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)
|
rs140599944
|
0.00014
|
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg)
|
rs376802604
|
0.00014
|
NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val)
|
rs367968662
|
0.00014
|
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)
|
rs192188850
|
0.00014
|
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro)
|
rs187886272
|
0.00014
|
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile)
|
rs773393717
|
0.00014
|
NM_205836.3(FBXO38):c.1862G>A (p.Arg621His)
|
rs199901955
|
0.00014
|
NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg)
|
rs146450269
|
0.00013
|
NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr)
|
rs376564889
|
0.00013
|
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His)
|
rs776489779
|
0.00013
|
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys)
|
rs760122001
|
0.00013
|
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_003900.5(SQSTM1):c.1277C>T (p.Ala426Val)
|
rs201239306
|
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_005866.4(SIGMAR1):c.510G>A (p.Met170Ile)
|
rs1336386973
|
0.00012
|
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr)
|
rs746862312
|
0.00012
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
NM_004082.5(DCTN1):c.2588T>C (p.Val863Ala)
|
rs150798076
|
0.00011
|
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly)
|
rs187434401
|
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_205836.3(FBXO38):c.1117G>A (p.Val373Met)
|
rs201279960
|
0.00011
|
NM_205836.3(FBXO38):c.1968G>T (p.Gln656His)
|
rs370471937
|
0.00011
|
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.856C>T (p.Arg286Trp)
|
rs751421003
|
0.00010
|
NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp)
|
rs139130383
|
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.2353C>T (p.Arg785Trp)
|
rs121909344
|
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_004960.4(FUS):c.661_663del (p.Ser221del)
|
rs746633090
|
0.00010
|
NM_020631.6(PLEKHG5):c.2212A>G (p.Met738Val)
|
rs778686532
|
0.00010
|
NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln)
|
rs376237905
|
0.00010
|
NM_205836.3(FBXO38):c.3261C>G (p.Ile1087Met)
|
rs201719515
|
0.00010
|
NM_001008212.2(OPTN):c.1401+4A>G
|
rs371470839
|
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_003384.3(VRK1):c.440A>G (p.Lys147Arg)
|
rs149350224
|
0.00009
|
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn)
|
rs201923000
|
0.00009
|
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp)
|
rs144718603
|
0.00009
|
NM_006308.3(HSPB3):c.98dup (p.Leu34fs)
|
rs778166378
|
0.00009
|
NM_014043.4(CHMP2B):c.532-3T>C
|
rs375829451
|
0.00009
|
NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser)
|
rs144637575
|
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.518G>A (p.Arg173Gln)
|
rs142378760
|
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_199189.3(MATR3):c.-339+2T>A
|
rs539017488
|
0.00009
|
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_003900.5(SQSTM1):c.332C>T (p.Pro111Leu)
|
rs371719657
|
0.00008
|
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln)
|
rs151052060
|
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_007126.5(VCP):c.1194+3G>A
|
rs183223259
|
0.00008
|
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln)
|
rs761000380
|
0.00008
|
NM_205836.3(FBXO38):c.2176G>A (p.Asp726Asn)
|
rs548894296
|
0.00008
|
NM_205836.3(FBXO38):c.561A>G (p.Ile187Met)
|
rs750935580
|
0.00008
|
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)
|
rs142812715
|
0.00007
|
NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn)
|
rs200007067
|
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.3529+3A>G
|
rs370727908
|
0.00007
|
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys)
|
rs141670992
|
0.00007
|
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met)
|
rs755520364
|
0.00007
|
NM_020631.6(PLEKHG5):c.1510G>A (p.Glu504Lys)
|
rs552364487
|
0.00007
|
NM_020631.6(PLEKHG5):c.2227G>A (p.Gly743Ser)
|
rs145073653
|
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_021815.5(SLC5A7):c.1081C>T (p.Arg361Trp)
|
rs376624433
|
0.00007
|
NM_205836.3(FBXO38):c.1834G>A (p.Val612Ile)
|
rs201999494
|
0.00007
|
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)
|
rs374353973
|
0.00007
|
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr)
|
rs760492259
|
0.00006
|
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala)
|
rs750995656
|
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.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_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu)
|
rs199854262
|
0.00006
|
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)
|
rs769325755
|
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.811G>A (p.Val271Ile)
|
rs376283809
|
0.00006
|
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His)
|
rs752889531
|
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.3557T>C (p.Met1186Thr)
|
rs145819459
|
0.00006
|
NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg)
|
rs758026180
|
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_004960.4(FUS):c.630G>C (p.Gln210His)
|
rs779124981
|
0.00006
|
NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn)
|
rs746079387
|
0.00006
|
NM_007126.5(VCP):c.1482+4G>A
|
rs768327051
|
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_015046.7(SETX):c.5853C>G (p.His1951Gln)
|
rs928020122
|
0.00006
|
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val)
|
rs766453846
|
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.1697T>A (p.Leu566Gln)
|
rs376513313
|
0.00006
|
NM_020631.6(PLEKHG5):c.1924C>T (p.Arg642Trp)
|
rs139188442
|
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_205836.3(FBXO38):c.11G>A (p.Arg4Gln)
|
rs148337492
|
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.2675G>A (p.Arg892His)
|
rs183483408
|
0.00006
|
NM_205836.3(FBXO38):c.2683A>G (p.Met895Val)
|
rs758909222
|
0.00006
|
NM_001003800.2(BICD2):c.79A>G (p.Lys27Glu)
|
rs575275088
|
0.00005
|
NM_002180.3(IGHMBP2):c.1632+4C>T
|
rs775832239
|
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.265G>A (p.Val89Met)
|
rs1384314579
|
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.761G>A (p.Arg254His)
|
rs761191746
|
0.00005
|
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln)
|
rs1412431442
|
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.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.446G>A (p.Arg149Gln)
|
rs149447433
|
0.00005
|
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala)
|
rs752091117
|
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_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln)
|
rs868161574
|
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.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_021815.5(SLC5A7):c.466A>T (p.Ile156Phe)
|
rs763294235
|
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_000052.7(ATP7A):c.3790A>G (p.Ile1264Val)
|
rs782323741
|
0.00004
|
NM_000454.5(SOD1):c.59A>G (p.Asn20Ser)
|
rs768029813
|
0.00004
|
NM_001003800.2(BICD2):c.1649A>G (p.Asn550Ser)
|
rs754018322
|
0.00004
|
NM_001003800.2(BICD2):c.2465C>T (p.Pro822Leu)
|
rs768524403
|
0.00004
|
NM_001003800.2(BICD2):c.746C>T (p.Thr249Met)
|
rs148937530
|
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.425A>C (p.Gln142Pro)
|
rs757411888
|
0.00004
|
NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln)
|
rs1021399630
|
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.217G>A (p.Gly73Arg)
|
rs376644749
|
0.00004
|
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg)
|
rs754559345
|
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.2646C>A (p.Asp882Glu)
|
rs372629862
|
0.00004
|
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser)
|
rs772387164
|
0.00004
|
NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val)
|
rs759609027
|
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_003334.4(UBA1):c.1150C>T (p.Arg384Trp)
|
rs148642741
|
0.00004
|
NM_003334.4(UBA1):c.1765G>A (p.Val589Ile)
|
rs782106589
|
0.00004
|
NM_003334.4(UBA1):c.370G>A (p.Gly124Ser)
|
rs149161653
|
0.00004
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
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.683C>T (p.Thr228Met)
|
rs146113610
|
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.251C>T (p.Thr84Ile)
|
rs539682696
|
0.00004
|
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)
|
rs141502868
|
0.00004
|
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His)
|
rs761822261
|
0.00004
|
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala)
|
rs142719499
|
0.00004
|
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met)
|
rs150926394
|
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.1936G>T (p.Ala646Ser)
|
rs146865209
|
0.00004
|
NM_004082.5(DCTN1):c.2090G>A (p.Arg697His)
|
rs758712765
|
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.259A>G (p.Ile87Val)
|
rs969750631
|
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.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.3640C>T (p.Arg1214Cys)
|
rs759373031
|
0.00004
|
NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val)
|
rs1026036256
|
0.00004
|
NM_004082.5(DCTN1):c.559G>T (p.Ala187Ser)
|
rs960727301
|
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.502A>G (p.Lys168Glu)
|
rs774643393
|
0.00004
|
NM_004738.5(VAPB):c.58+5G>A
|
rs753611165
|
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.595C>T (p.Leu199Phe)
|
rs146118253
|
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.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.1242G>A (p.Leu414=)
|
rs375262833
|
0.00004
|
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)
|
rs80356742
|
0.00004
|
NM_013254.4(TBK1):c.1057A>G (p.Ile353Val)
|
rs755655622
|
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_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_015046.7(SETX):c.1416A>T (p.Lys472Asn)
|
rs886063558
|
0.00004
|
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)
|
rs763545230
|
0.00004
|
NM_018834.6(MATR3):c.1778+5T>C
|
rs377212154
|
0.00004
|
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala)
|
rs765603068
|
0.00004
|
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn)
|
rs774070119
|
0.00004
|
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu)
|
rs374819399
|
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.1729G>A (p.Ala577Thr)
|
rs143545780
|
0.00004
|
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys)
|
rs184242303
|
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.571C>T (p.Arg191Trp)
|
rs183712624
|
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.916G>A (p.Asp306Asn)
|
rs781614887
|
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.872T>C (p.Ile291Thr)
|
rs375397889
|
0.00004
|
NM_205836.3(FBXO38):c.1169T>C (p.Ile390Thr)
|
rs141355914
|
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.2201G>C (p.Gly734Ala)
|
rs745545823
|
0.00004
|
NM_205836.3(FBXO38):c.2212G>A (p.Glu738Lys)
|
rs141211499
|
0.00004
|
NM_205836.3(FBXO38):c.2332T>A (p.Cys778Ser)
|
rs770230868
|
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.382G>T (p.Ala128Ser)
|
rs371437007
|
0.00004
|
NM_213720.3(CHCHD10):c.42-2A>G
|
rs1354578196
|
0.00004
|
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
|
rs1423719687
|
0.00003
|
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe)
|
rs1189381967
|
0.00003
|
NM_001003800.2(BICD2):c.2192A>G (p.Asn731Ser)
|
rs756538071
|
0.00003
|
NM_001008212.2(OPTN):c.1533-3C>T
|
rs373981784
|
0.00003
|
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln)
|
rs550042475
|
0.00003
|
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)
|
rs202044898
|
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_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met)
|
rs1170552394
|
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.1814G>A (p.Arg605Gln)
|
rs141107419
|
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.2287G>A (p.Glu763Lys)
|
rs768670979
|
0.00003
|
NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser)
|
rs778232785
|
0.00003
|
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
|
rs141836800
|
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_003334.4(UBA1):c.1151G>A (p.Arg384Gln)
|
rs781909775
|
0.00003
|
NM_003334.4(UBA1):c.1226T>C (p.Val409Ala)
|
rs1556788859
|
0.00003
|
NM_003334.4(UBA1):c.2359G>A (p.Val787Met)
|
rs1204889932
|
0.00003
|
NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys)
|
rs1466232811
|
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.733G>A (p.Gly245Arg)
|
rs781803482
|
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_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.335C>T (p.Pro112Leu)
|
rs761423892
|
0.00003
|
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)
|
rs758090054
|
0.00003
|
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg)
|
rs781478225
|
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.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.2633A>G (p.Tyr878Cys)
|
rs778201974
|
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.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.73C>T (p.Arg25Trp)
|
rs756611519
|
0.00003
|
NM_004738.5(VAPB):c.104C>T (p.Pro35Leu)
|
rs1456089445
|
0.00003
|
NM_004738.5(VAPB):c.550C>T (p.Arg184Trp)
|
rs750394268
|
0.00003
|
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser)
|
rs201533156
|
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_005866.4(SIGMAR1):c.124A>G (p.Ile42Val)
|
rs778074369
|
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_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.493C>T (p.Arg165Cys)
|
rs544935330
|
0.00003
|
NM_006736.6(DNAJB2):c.761A>G (p.Asp254Gly)
|
rs770788678
|
0.00003
|
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)
|
rs80356718
|
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.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_013444.4(UBQLN2):c.1198A>G (p.Ser400Gly)
|
rs781734842
|
0.00003
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
0.00003
|
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)
|
rs1230355404
|
0.00003
|
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp)
|
rs771969117
|
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_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.379C>T (p.Arg127Cys)
|
rs768516057
|
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.2131C>G (p.Gln711Glu)
|
rs761272621
|
0.00003
|
NM_020631.6(PLEKHG5):c.2432G>A (p.Arg811His)
|
rs891527256
|
0.00003
|
NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile)
|
rs761640668
|
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.998G>A (p.Arg333Gln)
|
rs759306471
|
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.1655C>A (p.Thr552Asn)
|
rs748431280
|
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_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.2201G>A (p.Gly734Asp)
|
rs745545823
|
0.00003
|
NM_205836.3(FBXO38):c.2794A>G (p.Met932Val)
|
rs372479730
|
0.00003
|
NM_205836.3(FBXO38):c.3439A>G (p.Met1147Val)
|
rs550138374
|
0.00003
|
NM_205836.3(FBXO38):c.707C>A (p.Thr236Asn)
|
rs370799682
|
0.00003
|
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu)
|
rs1438034155
|
0.00003
|
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.3294+5A>C
|
rs370596012
|
0.00002
|
NM_000052.7(ATP7A):c.4227-1G>A
|
rs782283173
|
0.00002
|
NM_000454.5(SOD1):c.149del (p.Glu50fs)
|
rs752237082
|
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_001003800.2(BICD2):c.1341C>T (p.Gly447=)
|
rs750241183
|
0.00002
|
NM_001003800.2(BICD2):c.1418G>A (p.Arg473His)
|
rs766539334
|
0.00002
|
NM_001003800.2(BICD2):c.1488C>T (p.Arg496=)
|
rs750614733
|
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.372G>T (p.Glu124Asp)
|
rs1490576971
|
0.00002
|
NM_001003800.2(BICD2):c.478C>T (p.Arg160Cys)
|
rs754493702
|
0.00002
|
NM_001003800.2(BICD2):c.641G>A (p.Arg214His)
|
rs373760993
|
0.00002
|
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr)
|
rs768591421
|
0.00002
|
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val)
|
rs900961302
|
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.626+5del
|
rs776938424
|
0.00002
|
NM_001008212.2(OPTN):c.882+3G>A
|
rs761196996
|
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.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.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.2185T>C (p.Phe729Leu)
|
rs763014565
|
0.00002
|
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
|
rs765230277
|
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.2756G>C (p.Arg919Pro)
|
rs148605058
|
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.665C>T (p.Thr222Met)
|
rs745416724
|
0.00002
|
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val)
|
rs377678376
|
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.1115C>A (p.Ala372Glu)
|
rs782051479
|
0.00002
|
NM_003334.4(UBA1):c.1117G>A (p.Val373Met)
|
rs782354395
|
0.00002
|
NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr)
|
rs917269296
|
0.00002
|
NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro)
|
rs1028156593
|
0.00002
|
NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln)
|
rs1215231057
|
0.00002
|
NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr)
|
rs1556793806
|
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.499A>G (p.Thr167Ala)
|
rs781828163
|
0.00002
|
NM_003334.4(UBA1):c.575G>A (p.Arg192Gln)
|
rs782068633
|
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.863G>A (p.Arg288His)
|
rs782554153
|
0.00002
|
NM_003334.4(UBA1):c.878G>A (p.Ser293Asn)
|
rs1365209491
|
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_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu)
|
rs772889843
|
0.00002
|
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val)
|
rs772122047
|
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.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.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.562G>A (p.Val188Met)
|
rs371832577
|
0.00002
|
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg)
|
rs368010261
|
0.00002
|
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys)
|
rs769873457
|
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_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.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.1802G>C (p.Gly601Ala)
|
rs370192633
|
0.00002
|
NM_004082.5(DCTN1):c.2006G>A (p.Arg669His)
|
rs140523637
|
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.2383C>T (p.Arg795Cys)
|
rs771231109
|
0.00002
|
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met)
|
rs766585070
|
0.00002
|
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)
|
rs771075973
|
0.00002
|
NM_004082.5(DCTN1):c.2872T>G (p.Ser958Ala)
|
rs753405772
|
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.3217A>G (p.Ile1073Val)
|
rs757034536
|
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.3545C>T (p.Ser1182Leu)
|
rs975026607
|
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.199A>G (p.Ile67Val)
|
rs772975721
|
0.00002
|
NM_004960.4(FUS):c.1204_1206del (p.Ser402del)
|
rs781120756
|
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.716A>G (p.Tyr239Cys)
|
rs145013063
|
0.00002
|
NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg)
|
rs990147591
|
0.00002
|
NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp)
|
rs780073328
|
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.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.284C>A (p.Thr95Asn)
|
rs1314160406
|
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.548G>A (p.Arg183Lys)
|
rs369758068
|
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.811+5G>C
|
rs1356010891
|
0.00002
|
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu)
|
rs748571947
|
0.00002
|
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile)
|
rs1433610854
|
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_013444.4(UBQLN2):c.1474G>C (p.Val492Leu)
|
rs756653207
|
0.00002
|
NM_013444.4(UBQLN2):c.21C>G (p.Ser7Arg)
|
rs202132872
|
0.00002
|
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile)
|
rs771168824
|
0.00002
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
NM_018834.6(MATR3):c.1366A>G (p.Thr456Ala)
|
rs748098389
|
0.00002
|
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)
|
rs752161415
|
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.620G>A (p.Arg207His)
|
rs749335257
|
0.00002
|
NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr)
|
rs754678569
|
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.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.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.2524C>T (p.Arg842Trp)
|
rs770870023
|
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.2812G>A (p.Gly938Ser)
|
rs573883242
|
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.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.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_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.472G>A (p.Asp158Asn)
|
rs768776054
|
0.00002
|
NM_021815.5(SLC5A7):c.568G>A (p.Val190Ile)
|
rs541031936
|
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.1985A>G (p.Gln662Arg)
|
rs748950456
|
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.2689C>T (p.Arg897Trp)
|
rs138967647
|
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.506G>A (p.Arg169His)
|
rs771708027
|
0.00002
|
NM_205836.3(FBXO38):c.625A>G (p.Met209Val)
|
rs778733611
|
0.00002
|
NM_205836.3(FBXO38):c.91A>C (p.Asn31His)
|
rs112086763
|
0.00002
|
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala)
|
rs1287389347
|
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.1286A>G (p.Glu429Gly)
|
rs2077660217
|
0.00001
|
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu)
|
rs1557232786
|
0.00001
|
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)
|
rs1193696385
|
0.00001
|
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg)
|
rs1569549834
|
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.2071G>A (p.Glu691Lys)
|
rs944415019
|
0.00001
|
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)
|
rs2077837721
|
0.00001
|
NM_000052.7(ATP7A):c.2573T>G (p.Val858Gly)
|
rs782094714
|
0.00001
|
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg)
|
rs1324162252
|
0.00001
|
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg)
|
rs1557235625
|
0.00001
|
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr)
|
rs782807828
|
0.00001
|
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys)
|
rs1557235740
|
0.00001
|
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln)
|
rs781995242
|
0.00001
|
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val)
|
rs1341604631
|
0.00001
|
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg)
|
rs782486797
|
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.3776A>T (p.Lys1259Ile)
|
rs962646396
|
0.00001
|
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile)
|
rs782499160
|
0.00001
|
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=)
|
rs1569550333
|
0.00001
|
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His)
|
rs1204475767
|
0.00001
|
NM_000052.7(ATP7A):c.488A>G (p.His163Arg)
|
rs1164298315
|
0.00001
|
NM_000052.7(ATP7A):c.548A>G (p.His183Arg)
|
rs1186296000
|
0.00001
|
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)
|
rs1030039318
|
0.00001
|
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr)
|
rs567432143
|
0.00001
|
NM_001003800.2(BICD2):c.1024A>G (p.Ile342Val)
|
rs777795062
|
0.00001
|
NM_001003800.2(BICD2):c.1165C>T (p.Arg389Cys)
|
rs766132361
|
0.00001
|
NM_001003800.2(BICD2):c.133G>C (p.Glu45Gln)
|
rs776420993
|
0.00001
|
NM_001003800.2(BICD2):c.1502G>A (p.Arg501Gln)
|
rs398123032
|
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.1675G>A (p.Glu559Lys)
|
rs759941912
|
0.00001
|
NM_001003800.2(BICD2):c.1693G>A (p.Gly565Ser)
|
rs1302642659
|
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.1940G>A (p.Arg647His)
|
rs774220760
|
0.00001
|
NM_001003800.2(BICD2):c.1975C>G (p.Gln659Glu)
|
rs748802657
|
0.00001
|
NM_001003800.2(BICD2):c.2008G>A (p.Glu670Lys)
|
rs372899268
|
0.00001
|
NM_001003800.2(BICD2):c.203A>G (p.Tyr68Cys)
|
rs141519259
|
0.00001
|
NM_001003800.2(BICD2):c.2218G>A (p.Ala740Thr)
|
rs1210812038
|
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.2347C>T (p.Arg783Cys)
|
rs144944522
|
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.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.389A>G (p.Asn130Ser)
|
rs142827536
|
0.00001
|
NM_001003800.2(BICD2):c.404C>T (p.Thr135Met)
|
rs758588310
|
0.00001
|
NM_001003800.2(BICD2):c.454-4A>G
|
rs1379719399
|
0.00001
|
NM_001003800.2(BICD2):c.527G>T (p.Arg176Leu)
|
rs1207286970
|
0.00001
|
NM_001003800.2(BICD2):c.733G>A (p.Glu245Lys)
|
rs371897802
|
0.00001
|
NM_001003800.2(BICD2):c.889G>A (p.Glu297Lys)
|
rs770331418
|
0.00001
|
NM_001003800.2(BICD2):c.956C>T (p.Thr319Met)
|
rs753891194
|
0.00001
|
NM_001003800.2(BICD2):c.986C>A (p.Ser329Tyr)
|
rs761526161
|
0.00001
|
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala)
|
rs751226367
|
0.00001
|
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly)
|
rs956159636
|
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.46C>G (p.Pro16Ala)
|
rs758942502
|
0.00001
|
NM_001008212.2(OPTN):c.481G>A (p.Val161Met)
|
rs776058639
|
0.00001
|
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)
|
rs199700857
|
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.867G>C (p.Glu289Asp)
|
rs143727251
|
0.00001
|
NM_001008212.2(OPTN):c.882+5G>C
|
rs766398912
|
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_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.1051A>G (p.Thr351Ala)
|
rs1033402228
|
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.1148C>T (p.Ala383Val)
|
rs876661217
|
0.00001
|
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
|
rs372477029
|
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.1277T>G (p.Leu426Arg)
|
rs1555247218
|
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.1348C>T (p.Arg450Cys)
|
rs374363750
|
0.00001
|
NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg)
|
rs751446350
|
0.00001
|
NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu)
|
rs755120725
|
0.00001
|
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg)
|
rs1555247334
|
0.00001
|
NM_002180.3(IGHMBP2):c.1537+17A>G
|
rs1164525405
|
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.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.1756+5G>A
|
rs1352994155
|
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.1816C>T (p.Arg606Cys)
|
rs536556753
|
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.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.2036G>A (p.Arg679Gln)
|
rs767422655
|
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.2194A>G (p.Met732Val)
|
rs750717921
|
0.00001
|
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
|
rs1444267409
|
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.2359C>T (p.Pro787Ser)
|
rs543060051
|
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.2438C>T (p.Ala813Val)
|
rs779854653
|
0.00001
|
NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup)
|
rs1267983821
|
0.00001
|
NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser)
|
rs1131691275
|
0.00001
|
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg)
|
rs1300949116
|
0.00001
|
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu)
|
rs772539742
|
0.00001
|
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr)
|
rs149294713
|
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.2752C>T (p.Arg918Cys)
|
rs199962477
|
0.00001
|
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met)
|
rs761854167
|
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.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.2978C>T (p.Thr993Met)
|
rs777591006
|
0.00001
|
NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp)
|
rs750026880
|
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.479C>A (p.Ser160Tyr)
|
rs767665196
|
0.00001
|
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val)
|
rs750539690
|
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.596C>T (p.Ala199Val)
|
rs780802298
|
0.00001
|
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr)
|
rs768493454
|
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.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.986A>T (p.Glu329Val)
|
rs201726883
|
0.00001
|
NM_003334.4(UBA1):c.1014G>C (p.Gln338His)
|
rs1157237217
|
0.00001
|
NM_003334.4(UBA1):c.1147A>T (p.Ile383Phe)
|
rs1341394275
|
0.00001
|
NM_003334.4(UBA1):c.1189A>G (p.Ile397Val)
|
rs1556788826
|
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.1924G>C (p.Glu642Gln)
|
rs1318594436
|
0.00001
|
NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser)
|
rs1556793160
|
0.00001
|
NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg)
|
rs868922840
|
0.00001
|
NM_003334.4(UBA1):c.242G>A (p.Arg81Gln)
|
rs782097752
|
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.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.2626C>G (p.Pro876Ala)
|
rs782749176
|
0.00001
|
NM_003334.4(UBA1):c.2754G>C (p.Gln918His)
|
rs782576505
|
0.00001
|
NM_003334.4(UBA1):c.2824G>A (p.Ala942Thr)
|
rs1556794067
|
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.3127G>A (p.Glu1043Lys)
|
rs782810802
|
0.00001
|
NM_003334.4(UBA1):c.34G>T (p.Val12Leu)
|
rs982155788
|
0.00001
|
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)
|
rs1556787651
|
0.00001
|
NM_003334.4(UBA1):c.598T>G (p.Cys200Gly)
|
rs200692291
|
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.1099G>C (p.Glu367Gln)
|
rs145241983
|
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.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.302G>A (p.Arg101His)
|
rs372646027
|
0.00001
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
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.533T>C (p.Ile178Thr)
|
rs1888016669
|
0.00001
|
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe)
|
rs1452833653
|
0.00001
|
NM_003384.3(VRK1):c.583T>G (p.Leu195Val)
|
rs779770049
|
0.00001
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp)
|
rs1311364931
|
0.00001
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
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.82A>G (p.Ile28Val)
|
rs1210199221
|
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+4G>C
|
rs761286112
|
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.1084G>A (p.Glu362Lys)
|
rs535932454
|
0.00001
|
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser)
|
rs776303544
|
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.1265A>G (p.Tyr422Cys)
|
rs1471403162
|
0.00001
|
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr)
|
rs752910741
|
0.00001
|
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val)
|
rs1241285995
|
0.00001
|
NM_003900.5(SQSTM1):c.205+6C>T
|
rs1286712928
|
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.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.293A>G (p.Tyr98Cys)
|
rs750784335
|
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.361A>G (p.Met121Val)
|
rs1209470881
|
0.00001
|
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn)
|
rs753212399
|
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.508A>G (p.Ser170Gly)
|
rs377198490
|
0.00001
|
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg)
|
rs200731802
|
0.00001
|
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln)
|
rs778537429
|
0.00001
|
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys)
|
rs867275286
|
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.728G>A (p.Ser243Asn)
|
rs1325278483
|
0.00001
|
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu)
|
rs1353365075
|
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.866G>A (p.Cys289Tyr)
|
rs757493001
|
0.00001
|
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val)
|
rs541356917
|
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.97G>T (p.Ala33Ser)
|
rs1156716975
|
0.00001
|
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu)
|
rs755411592
|
0.00001
|
NM_004082.5(DCTN1):c.1022T>G (p.Ile341Ser)
|
rs1674769234
|
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.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.1288-6A>G
|
rs1236101222
|
0.00001
|
NM_004082.5(DCTN1):c.1364G>A (p.Arg455His)
|
rs763277715
|
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.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.1594C>G (p.Arg532Gly)
|
rs563630664
|
0.00001
|
NM_004082.5(DCTN1):c.1610A>G (p.Gln537Arg)
|
rs4994503
|
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.2083C>T (p.His695Tyr)
|
rs756952260
|
0.00001
|
NM_004082.5(DCTN1):c.2103C>G (p.Phe701Leu)
|
rs1309359471
|
0.00001
|
NM_004082.5(DCTN1):c.2253+4A>T
|
rs1674495774
|
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.2467G>A (p.Val823Ile)
|
rs753992154
|
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.2639C>T (p.Thr880Ile)
|
rs758789274
|
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.2686C>G (p.Leu896Val)
|
rs545910781
|
0.00001
|
NM_004082.5(DCTN1):c.2779C>T (p.Arg927Trp)
|
rs758168607
|
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.2969G>A (p.Arg990His)
|
rs369129714
|
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.3199G>T (p.Glu1067Ter)
|
rs376996779
|
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.3292T>G (p.Ser1098Ala)
|
rs749776779
|
0.00001
|
NM_004082.5(DCTN1):c.32G>A (p.Arg11Gln)
|
rs749196418
|
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.3448C>T (p.Arg1150Cys)
|
rs1194029274
|
0.00001
|
NM_004082.5(DCTN1):c.3449G>A (p.Arg1150His)
|
rs771822061
|
0.00001
|
NM_004082.5(DCTN1):c.3502G>A (p.Val1168Ile)
|
rs373550911
|
0.00001
|
NM_004082.5(DCTN1):c.3611A>G (p.Asp1204Gly)
|
rs1180149480
|
0.00001
|
NM_004082.5(DCTN1):c.3641G>A (p.Arg1214His)
|
rs554008879
|
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.3760G>T (p.Ala1254Ser)
|
rs772655253
|
0.00001
|
NM_004082.5(DCTN1):c.3781C>T (p.Arg1261Trp)
|
rs768025820
|
0.00001
|
NM_004082.5(DCTN1):c.414+6G>A
|
rs767853891
|
0.00001
|
NM_004082.5(DCTN1):c.427C>T (p.Arg143Ter)
|
rs781290307
|
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.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.59C>T (p.Ala20Val)
|
rs773420384
|
0.00001
|
NM_004082.5(DCTN1):c.623C>T (p.Pro208Leu)
|
rs1461654392
|
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.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.844-5C>G
|
rs1435999777
|
0.00001
|
NM_004082.5(DCTN1):c.864G>C (p.Glu288Asp)
|
rs1042083899
|
0.00001
|
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys)
|
rs751177222
|
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.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.622A>G (p.Ile208Val)
|
rs376121617
|
0.00001
|
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg)
|
rs1989222522
|
0.00001
|
NM_004960.4(FUS):c.*108C>T
|
rs780606789
|
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.1544G>T (p.Gly515Val)
|
rs1307257028
|
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.265T>A (p.Ser89Thr)
|
rs372638663
|
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_005866.4(SIGMAR1):c.*51G>T
|
rs768783740
|
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.344G>T (p.Gly115Val)
|
rs1241574813
|
0.00001
|
NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys)
|
rs778413865
|
0.00001
|
NM_005866.4(SIGMAR1):c.452C>T (p.Thr151Met)
|
rs745503254
|
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.652C>T (p.Leu218Phe)
|
rs754118993
|
0.00001
|
NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro)
|
rs1254998914
|
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_006736.6(DNAJB2):c.156A>G (p.Ala52=)
|
rs748638654
|
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.244C>T (p.Arg82Trp)
|
rs763649673
|
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.323G>C (p.Gly108Ala)
|
rs763591754
|
0.00001
|
NM_006736.6(DNAJB2):c.345G>C (p.Glu115Asp)
|
rs541289584
|
0.00001
|
NM_006736.6(DNAJB2):c.386G>A (p.Arg129Gln)
|
rs778575500
|
0.00001
|
NM_006736.6(DNAJB2):c.41C>T (p.Ala14Val)
|
rs1340065979
|
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.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_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.1327A>C (p.Asn443His)
|
rs770514866
|
0.00001
|
NM_007126.5(VCP):c.1402G>A (p.Val468Met)
|
rs779392075
|
0.00001
|
NM_007126.5(VCP):c.1459C>T (p.Arg487Cys)
|
rs752765916
|
0.00001
|
NM_007126.5(VCP):c.1768A>G (p.Ile590Val)
|
rs1255802734
|
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.2126G>A (p.Arg709Gln)
|
rs746617777
|
0.00001
|
NM_007126.5(VCP):c.2132G>A (p.Arg711Gln)
|
rs779670266
|
0.00001
|
NM_007126.5(VCP):c.2194C>T (p.Arg732Cys)
|
rs758602597
|
0.00001
|
NM_007126.5(VCP):c.303-3C>T
|
rs1183711292
|
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.41C>T (p.Thr14Ile)
|
rs1219381953
|
0.00001
|
NM_007126.5(VCP):c.451A>G (p.Ile151Val)
|
rs367881889
|
0.00001
|
NM_007126.5(VCP):c.62A>G (p.Asn21Ser)
|
rs1409460709
|
0.00001
|
NM_007126.5(VCP):c.697A>G (p.Ile233Val)
|
rs750335399
|
0.00001
|
NM_007126.5(VCP):c.73C>T (p.Arg25Trp)
|
rs920962883
|
0.00001
|
NM_007375.4(TARDBP):c.1015A>G (p.Met339Val)
|
rs1162800752
|
0.00001
|
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)
|
rs80356741
|
0.00001
|
NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser)
|
rs142913423
|
0.00001
|
NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys)
|
rs956150244
|
0.00001
|
NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser)
|
rs1419402299
|
0.00001
|
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr)
|
rs763874949
|
0.00001
|
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp)
|
rs753595352
|
0.00001
|
NM_013254.4(TBK1):c.1443A>T (p.Val481=)
|
rs1396706988
|
0.00001
|
NM_013254.4(TBK1):c.1505A>G (p.His502Arg)
|
rs1206925876
|
0.00001
|
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val)
|
rs768023625
|
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.437G>C (p.Gly146Ala)
|
rs41292021
|
0.00001
|
NM_013254.4(TBK1):c.51A>G (p.Gln17=)
|
rs769584803
|
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.962C>T (p.Ala321Val)
|
rs762705031
|
0.00001
|
NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg)
|
rs1243726473
|
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.808C>T (p.Arg270Cys)
|
rs1330837640
|
0.00001
|
NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro)
|
rs1459753673
|
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.28G>A (p.Val10Met)
|
rs1295215037
|
0.00001
|
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu)
|
rs369257752
|
0.00001
|
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala)
|
rs999767103
|
0.00001
|
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)
|
rs772044862
|
0.00001
|
NM_015046.7(SETX):c.1438G>T (p.Val480Leu)
|
rs377301250
|
0.00001
|
NM_015046.7(SETX):c.167T>C (p.Phe56Ser)
|
rs1032816797
|
0.00001
|
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala)
|
rs957434595
|
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.202C>T (p.Arg68Cys)
|
rs771481623
|
0.00001
|
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)
|
rs922821119
|
0.00001
|
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
|
rs373647065
|
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.2788A>G (p.Ser930Gly)
|
rs770694223
|
0.00001
|
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn)
|
rs1846998334
|
0.00001
|
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)
|
rs1564541841
|
0.00001
|
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys)
|
rs778505279
|
0.00001
|
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp)
|
rs1297541939
|
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.4262C>G (p.Pro1421Arg)
|
rs778111855
|
0.00001
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr)
|
rs772466321
|
0.00001
|
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser)
|
rs916634082
|
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.5203G>A (p.Val1735Ile)
|
rs752646721
|
0.00001
|
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)
|
rs758411198
|
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.5501A>G (p.His1834Arg)
|
rs770822383
|
0.00001
|
NM_015046.7(SETX):c.5661A>G (p.Gln1887=)
|
rs1589671916
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_015046.7(SETX):c.598A>G (p.Ile200Val)
|
rs1368588434
|
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.6792A>G (p.Ile2264Met)
|
rs148041889
|
0.00001
|
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp)
|
rs1843269972
|
0.00001
|
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu)
|
rs781671592
|
0.00001
|
NM_015046.7(SETX):c.71A>G (p.Asn24Ser)
|
rs981346599
|
0.00001
|
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)
|
rs1382990384
|
0.00001
|
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr)
|
rs1842557730
|
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.980A>T (p.Glu327Val)
|
rs1315992594
|
0.00001
|
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)
|
rs748839685
|
0.00001
|
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser)
|
rs948428305
|
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.1435-10T>C
|
rs772340385
|
0.00001
|
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu)
|
rs777025841
|
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.1949T>C (p.Met650Thr)
|
rs1176347654
|
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.2213A>G (p.Glu738Gly)
|
rs538917496
|
0.00001
|
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser)
|
rs1452954379
|
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.2507A>C (p.Lys836Thr)
|
rs912142064
|
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.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.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_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.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.1139C>T (p.Ala380Val)
|
rs374286001
|
0.00001
|
NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly)
|
rs1327802744
|
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.1231C>T (p.Arg411Cys)
|
rs1271841187
|
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.1295T>C (p.Phe432Ser)
|
rs1384133118
|
0.00001
|
NM_020631.6(PLEKHG5):c.1360C>T (p.Arg454Cys)
|
rs200086651
|
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.1414T>G (p.Cys472Gly)
|
rs1382976948
|
0.00001
|
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg)
|
rs1242593815
|
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.1514C>T (p.Pro505Leu)
|
rs770934745
|
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.1576A>G (p.Asn526Asp)
|
rs774755047
|
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.1681-3C>T
|
rs370601982
|
0.00001
|
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys)
|
rs267598690
|
0.00001
|
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys)
|
rs765998625
|
0.00001
|
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala)
|
rs781318885
|
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.1951T>G (p.Tyr651Asp)
|
rs1644501019
|
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.211-3C>T
|
rs754653668
|
0.00001
|
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu)
|
rs910994587
|
0.00001
|
NM_020631.6(PLEKHG5):c.2249+4C>T
|
rs751575330
|
0.00001
|
NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met)
|
rs1000775772
|
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.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.2801G>C (p.Ser934Thr)
|
rs1404826523
|
0.00001
|
NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg)
|
rs755699992
|
0.00001
|
NM_020631.6(PLEKHG5):c.2837C>T (p.Ala946Val)
|
rs751158651
|
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.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.47C>G (p.Ser16Cys)
|
rs201090415
|
0.00001
|
NM_020631.6(PLEKHG5):c.484A>G (p.Lys162Glu)
|
rs1644685170
|
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.631G>C (p.Gly211Arg)
|
rs1428031986
|
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.701G>C (p.Gly234Ala)
|
rs1348491680
|
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.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.995G>A (p.Arg332Gln)
|
rs769390222
|
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.1254C>A (p.Phe418Leu)
|
rs770003632
|
0.00001
|
NM_021815.5(SLC5A7):c.12T>G (p.His4Gln)
|
rs1677318394
|
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.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.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.238T>C (p.Tyr80His)
|
rs748862220
|
0.00001
|
NM_021815.5(SLC5A7):c.277C>T (p.Leu93Phe)
|
rs1172822464
|
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.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.534G>A (p.Val178=)
|
rs1573601177
|
0.00001
|
NM_021815.5(SLC5A7):c.625C>A (p.His209Asn)
|
rs763744412
|
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.716C>T (p.Ser239Phe)
|
rs778161682
|
0.00001
|
NM_021815.5(SLC5A7):c.897C>G (p.Asp299Glu)
|
rs1370287710
|
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.1327G>C (p.Asp443His)
|
rs1318477469
|
0.00001
|
NM_205836.3(FBXO38):c.1531A>G (p.Asn511Asp)
|
rs746674990
|
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.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.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.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.2295G>T (p.Glu765Asp)
|
rs966952897
|
0.00001
|
NM_205836.3(FBXO38):c.2309G>A (p.Ser770Asn)
|
rs1485057991
|
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.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.2995C>T (p.Arg999Cys)
|
rs760782381
|
0.00001
|
NM_205836.3(FBXO38):c.3024+5C>T
|
rs781235057
|
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.3277G>A (p.Val1093Ile)
|
rs779324806
|
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.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.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.812G>A (p.Arg271Gln)
|
rs896205714
|
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.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_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.214G>A (p.Ala72Thr)
|
rs542541060
|
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.408T>C (p.His136=)
|
rs113677828
|
0.00001
|
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val)
|
rs1197865297
|
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
|
NC_000001.10:g.(?_6527623)_(6537631_?)dup
|
|
|
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_000005.9: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_000009.11:g.(?_135156834)_(135156981_?)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_000010.10:g.(?_13151123)_(13154655_?)dup
|
|
|
NC_000010.10:g.(?_13158247)_(13169923_?)dup
|
|
|
NC_000010.10:g.(?_13160868)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13160868)_(13161060_?)dup
|
|
|
NC_000010.11:g.(?_13118878)_(13119050_?)del
|
|
|
NC_000011.10:g.(?_68908125)_(68908651_?)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)_(77305902_?)dup
|
|
|
NC_000023.10:g.(?_77227129)_(77302077_?)dup
|
|
|
NC_000023.10:g.(?_77227139)_(77381327_?)dup
|
|
|
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.(?_77266653)_(77268629_?)dup
|
|
|
NC_000023.10:g.(?_77266663)_(77268619_?)dup
|
|
|
NC_000023.10:g.(?_77270149)_(77305902_?)dup
|
|
|
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
|
|
|
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr)
|
|
|
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met)
|
rs2149083240
|
|
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile)
|
|
|
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg)
|
rs2077658544
|
|
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp)
|
|
|
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser)
|
|
|
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe)
|
|
|
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.112C>T (p.His38Tyr)
|
rs1603378831
|
|
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser)
|
|
|
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr)
|
|
|
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.1177C>G (p.Gln393Glu)
|
|
|
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala)
|
|
|
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser)
|
|
|
NM_000052.7(ATP7A):c.120G>A (p.Lys40=)
|
|
|
NM_000052.7(ATP7A):c.121-14T>G
|
|
|
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val)
|
|
|
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe)
|
|
|
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val)
|
|
|
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys)
|
|
|
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg)
|
|
|
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln)
|
|
|
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu)
|
rs2149083480
|
|
NM_000052.7(ATP7A):c.1336+3A>G
|
|
|
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser)
|
|
|
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu)
|
rs1603381269
|
|
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser)
|
|
|
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His)
|
|
|
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala)
|
rs2149087825
|
|
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly)
|
|
|
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
|
rs2077719880
|
|
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr)
|
rs2149087885
|
|
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr)
|
|
|
NM_000052.7(ATP7A):c.1523G>A (p.Arg508Gln)
|
|
|
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp)
|
rs1030215501
|
|
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys)
|
|
|
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.1606G>C (p.Val536Leu)
|
|
|
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met)
|
|
|
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val)
|
rs1557233382
|
|
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.165A>C (p.Lys55Asn)
|
|
|
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr)
|
|
|
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala)
|
|
|
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.1690G>A (p.Gly564Ser)
|
|
|
NM_000052.7(ATP7A):c.1708-19A>G
|
|
|
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu)
|
|
|
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe)
|
rs2149093499
|
|
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
|
rs2077799245
|
|
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile)
|
|
|
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln)
|
rs1603384813
|
|
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val)
|
rs2149093524
|
|
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His)
|
|
|
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.1806C>A (p.Asn602Lys)
|
|
|
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg)
|
|
|
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.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
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+4A>G
|
|
|
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser)
|
rs876661241
|
|
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile)
|
|
|
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu)
|
rs2149094957
|
|
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu)
|
|
|
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp)
|
rs1057523112
|
|
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn)
|
|
|
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn)
|
|
|
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala)
|
rs2077822914
|
|
NM_000052.7(ATP7A):c.1945_1946+2dup
|
rs2077822992
|
|
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.2013G>A (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.2030A>G (p.His677Arg)
|
|
|
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys)
|
|
|
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
|
|
|
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu)
|
|
|
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
|
|
|
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del)
|
|
|
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys)
|
|
|
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe)
|
rs2077826335
|
|
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His)
|
|
|
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His)
|
|
|
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.2158T>G (p.Cys720Gly)
|
rs1569549892
|
|
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)
|
|
|
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu)
|
|
|
NM_000052.7(ATP7A):c.2172+2C>T
|
rs2077827112
|
|
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu)
|
|
|
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
|
rs2077837052
|
|
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His)
|
rs2149095977
|
|
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe)
|
rs1569549929
|
|
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg)
|
rs2077837209
|
|
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr)
|
|
|
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu)
|
rs2077838145
|
|
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly)
|
|
|
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr)
|
rs1057523512
|
|
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
|
rs781834675
|
|
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly)
|
|
|
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met)
|
rs2077838404
|
|
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu)
|
|
|
NM_000052.7(ATP7A):c.2406+6G>A
|
rs782307719
|
|
NM_000052.7(ATP7A):c.2407G>A (p.Gly803Ser)
|
|
|
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser)
|
|
|
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu)
|
|
|
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr)
|
|
|
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val)
|
rs781879594
|
|
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly)
|
|
|
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro)
|
rs1557234938
|
|
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser)
|
|
|
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe)
|
|
|
NM_000052.7(ATP7A):c.2498+3A>T
|
rs1603386005
|
|
NM_000052.7(ATP7A):c.2499-3C>T
|
rs2077858280
|
|
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.257A>G (p.Asp86Gly)
|
rs2149082599
|
|
NM_000052.7(ATP7A):c.2588T>C (p.Ile863Thr)
|
|
|
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr)
|
rs2149097408
|
|
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg)
|
|
|
NM_000052.7(ATP7A):c.2626+5G>T
|
rs2149097418
|
|
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu)
|
|
|
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His)
|
|
|
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro)
|
|
|
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala)
|
|
|
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.2781+5C>T
|
|
|
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val)
|
|
|
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met)
|
|
|
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly)
|
|
|
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser)
|
rs1569550056
|
|
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys)
|
|
|
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.2851G>A (p.Ala951Thr)
|
rs1557235719
|
|
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn)
|
|
|
NM_000052.7(ATP7A):c.2916+11T>G
|
|
|
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val)
|
|
|
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys)
|
|
|
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly)
|
|
|
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val)
|
rs1353488746
|
|
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly)
|
rs2077967548
|
|
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro)
|
|
|
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.3037_3038delinsGA (p.Met1013Glu)
|
rs1557236747
|
|
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
|
|
|
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.3102G>A (p.Met1034Ile)
|
|
|
NM_000052.7(ATP7A):c.3111+6A>G
|
rs2077968712
|
|
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile)
|
|
|
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala)
|
rs2077983152
|
|
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln)
|
rs142998552
|
|
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala)
|
|
|
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg)
|
rs2077983527
|
|
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val)
|
|
|
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser)
|
rs2149106147
|
|
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn)
|
rs1603389390
|
|
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp)
|
|
|
NM_000052.7(ATP7A):c.3256C>T (p.His1086Tyr)
|
|
|
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.3286T>G (p.Cys1096Gly)
|
|
|
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln)
|
rs1557237081
|
|
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly)
|
|
|
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr)
|
rs2149107157
|
|
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.3346G>A (p.Gly1116Ser)
|
rs2149107164
|
|
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser)
|
|
|
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile)
|
|
|
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe)
|
rs2077995918
|
|
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr)
|
rs2077996076
|
|
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.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.3461A>G (p.Asn1154Ser)
|
rs1288867080
|
|
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile)
|
rs1557237452
|
|
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr)
|
|
|
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu)
|
|
|
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr)
|
|
|
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe)
|
|
|
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro)
|
|
|
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.3527A>T (p.Gln1176Leu)
|
|
|
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val)
|
|
|
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr)
|
rs782588862
|
|
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.3625A>G (p.Lys1209Glu)
|
|
|
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala)
|
|
|
NM_000052.7(ATP7A):c.3658+4A>T
|
|
|
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr)
|
|
|
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly)
|
|
|
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys)
|
rs2149110482
|
|
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly)
|
|
|
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val)
|
|
|
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe)
|
rs1603390828
|
|
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr)
|
|
|
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu)
|
|
|
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn)
|
|
|
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile)
|
|
|
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser)
|
rs2078041778
|
|
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.3812C>T (p.Thr1271Ile)
|
rs932523090
|
|
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=)
|
|
|
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)
|
rs999014839
|
|
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile)
|
|
|
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser)
|
|
|
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val)
|
|
|
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu)
|
|
|
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile)
|
rs782692001
|
|
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly)
|
|
|
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu)
|
rs371441365
|
|
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile)
|
|
|
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala)
|
rs2149112223
|
|
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr)
|
rs2149112238
|
|
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn)
|
|
|
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp)
|
|
|
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
|
rs2078062220
|
|
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser)
|
rs1603391261
|
|
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.4124-3T>C
|
|
|
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser)
|
|
|
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly)
|
|
|
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile)
|
rs2149113528
|
|
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg)
|
|
|
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+6T>G
|
|
|
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro)
|
|
|
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys)
|
|
|
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly)
|
rs2149113944
|
|
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys)
|
|
|
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)
|
|
|
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly)
|
rs2149113979
|
|
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.4300A>C (p.Ile1434Leu)
|
rs2149113995
|
|
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.4356G>T (p.Leu1452Phe)
|
|
|
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu)
|
rs147848649
|
|
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn)
|
|
|
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn)
|
|
|
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.4466T>C (p.Val1489Ala)
|
|
|
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.45G>C (p.Glu15Asp)
|
|
|
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met)
|
rs2149082707
|
|
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys)
|
|
|
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr)
|
|
|
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys)
|
|
|
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala)
|
rs1557231656
|
|
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu)
|
|
|
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln)
|
rs897502448
|
|
NM_000052.7(ATP7A):c.611-5A>G
|
rs1557231730
|
|
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg)
|
rs2149083027
|
|
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro)
|
|
|
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.67G>A (p.Val23Ile)
|
|
|
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr)
|
rs1557231750
|
|
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp)
|
|
|
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr)
|
rs2149083058
|
|
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu)
|
|
|
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)
|
|
|
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg)
|
|
|
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser)
|
|
|
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
|
|
|
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile)
|
|
|
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr)
|
rs2077656822
|
|
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg)
|
|
|
NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser)
|
rs868946047
|
|
NM_000052.7(ATP7A):c.833C>G (p.Thr278Arg)
|
|
|
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp)
|
|
|
NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro)
|
|
|
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro)
|
|
|
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
|
|
|
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.92G>A (p.Gly31Glu)
|
rs1569549378
|
|
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser)
|
rs1064797375
|
|
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_000344.4(SMN1):c.*3+1G>A
|
rs1290417835
|
|
NM_000344.4(SMN1):c.419A>T (p.Asp140Val)
|
rs1554081968
|
|
NM_000344.4(SMN1):c.841A>G (p.Arg281Gly)
|
|
|
NM_000344.4(SMN1):c.855_858del (p.Arg288fs)
|
rs1475940018
|
|
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.885A>G (p.Ter295=)
|
|
|
NM_000454.5(SOD1):c.*273_*276del
|
rs906761540
|
|
NM_000454.5(SOD1):c.106A>T (p.Ile36Phe)
|
rs1057524474
|
|
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly)
|
rs1568809149
|
|
NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup)
|
rs2123431926
|
|
NM_000454.5(SOD1):c.148G>A (p.Glu50Lys)
|
rs1568809178
|
|
NM_000454.5(SOD1):c.16G>A (p.Val6Met)
|
|
|
NM_000454.5(SOD1):c.179G>A (p.Ser60Asn)
|
|
|
NM_000454.5(SOD1):c.17T>C (p.Val6Ala)
|
rs2123427988
|
|
NM_000454.5(SOD1):c.208A>G (p.Arg70Gly)
|
rs1457291290
|
|
NM_000454.5(SOD1):c.216C>G (p.His72Gln)
|
rs368042695
|
|
NM_000454.5(SOD1):c.220G>A (p.Gly74Arg)
|
rs1555836720
|
|
NM_000454.5(SOD1):c.240-3T>C
|
|
|
NM_000454.5(SOD1):c.25C>G (p.Leu9Val)
|
rs1568807333
|
|
NM_000454.5(SOD1):c.26T>A (p.Leu9Gln)
|
|
|
NM_000454.5(SOD1):c.278A>T (p.Asp93Val)
|
|
|
NM_000454.5(SOD1):c.287C>T (p.Ala96Val)
|
rs1568810690
|
|
NM_000454.5(SOD1):c.292G>C (p.Val98Leu)
|
|
|
NM_000454.5(SOD1):c.319_324del (p.Leu107_Ser108del)
|
rs2123435528
|
|
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.357+2dup
|
|
|
NM_000454.5(SOD1):c.376G>C (p.Asp126His)
|
|
|
NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)
|
|
|
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del)
|
rs1568811423
|
|
NM_000454.5(SOD1):c.401A>T (p.Glu134Val)
|
|
|
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)
|
rs1568811454
|
|
NM_000454.5(SOD1):c.416G>A (p.Gly139Glu)
|
rs1568811464
|
|
NM_000454.5(SOD1):c.416G>T (p.Gly139Val)
|
|
|
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly)
|
rs1555836937
|
|
NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)
|
|
|
NM_000454.5(SOD1):c.455T>G (p.Ile152Ser)
|
rs121912449
|
|
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.72+20C>T
|
|
|
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del)
|
rs2049569360
|
|
NM_000454.5(SOD1):c.93G>C (p.Lys31Asn)
|
rs2123431867
|
|
NM_001003800.2(BICD2):c.1027T>G (p.Ser343Ala)
|
|
|
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.1063-7T>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.1094C>A (p.Thr365Lys)
|
|
|
NM_001003800.2(BICD2):c.10_12dup (p.Pro4_Ser5insPro)
|
|
|
NM_001003800.2(BICD2):c.1108C>A (p.Gln370Lys)
|
|
|
NM_001003800.2(BICD2):c.1110G>C (p.Gln370His)
|
|
|
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.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.1204G>A (p.Ala402Thr)
|
|
|
NM_001003800.2(BICD2):c.1204_1221del (p.Ala402_Gln407del)
|
|
|
NM_001003800.2(BICD2):c.1217G>A (p.Arg406Gln)
|
|
|
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.1291G>A (p.Gly431Arg)
|
rs780600581
|
|
NM_001003800.2(BICD2):c.1295C>T (p.Pro432Leu)
|
|
|
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.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.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.1429G>C (p.Glu477Gln)
|
rs372840233
|
|
NM_001003800.2(BICD2):c.1451A>C (p.Lys484Thr)
|
rs2131500709
|
|
NM_001003800.2(BICD2):c.1463T>C (p.Leu488Pro)
|
rs1587668983
|
|
NM_001003800.2(BICD2):c.1478_1479delinsTT (p.Arg493Leu)
|
rs1587668960
|
|
NM_001003800.2(BICD2):c.1486C>T (p.Arg496Cys)
|
rs1457844438
|
|
NM_001003800.2(BICD2):c.1501C>G (p.Arg501Gly)
|
|
|
NM_001003800.2(BICD2):c.1510_1512del (p.Lys504del)
|
rs1554705506
|
|
NM_001003800.2(BICD2):c.1517T>C (p.Leu506Pro)
|
|
|
NM_001003800.2(BICD2):c.1533C>A (p.Asp511Glu)
|
|
|
NM_001003800.2(BICD2):c.1541G>T (p.Gly514Val)
|
|
|
NM_001003800.2(BICD2):c.1561A>G (p.Ser521Gly)
|
rs1286725301
|
|
NM_001003800.2(BICD2):c.1564G>A (p.Val522Met)
|
rs1853397128
|
|
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.1592G>T (p.Ser531Ile)
|
rs1287163670
|
|
NM_001003800.2(BICD2):c.1607A>G (p.Asn536Ser)
|
|
|
NM_001003800.2(BICD2):c.1617C>G (p.His539Gln)
|
|
|
NM_001003800.2(BICD2):c.1627A>T (p.Met543Leu)
|
|
|
NM_001003800.2(BICD2):c.1631G>A (p.Cys544Tyr)
|
rs1853395351
|
|
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.1672C>T (p.Arg558Cys)
|
rs1351684855
|
|
NM_001003800.2(BICD2):c.1673G>T (p.Arg558Leu)
|
|
|
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.1718C>G (p.Thr573Ser)
|
|
|
NM_001003800.2(BICD2):c.1724C>A (p.Pro575His)
|
|
|
NM_001003800.2(BICD2):c.1730C>T (p.Ala577Val)
|
|
|
NM_001003800.2(BICD2):c.1732C>G (p.Arg578Gly)
|
|
|
NM_001003800.2(BICD2):c.1732del (p.Arg578fs)
|
rs1554705455
|
|
NM_001003800.2(BICD2):c.1736G>A (p.Gly579Asp)
|
|
|
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.1817G>A (p.Ser606Asn)
|
rs897077465
|
|
NM_001003800.2(BICD2):c.181T>C (p.Phe61Leu)
|
|
|
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.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>C (p.Leu641Pro)
|
rs1554705383
|
|
NM_001003800.2(BICD2):c.1928C>T (p.Ala643Val)
|
|
|
NM_001003800.2(BICD2):c.1957C>T (p.Arg653Cys)
|
|
|
NM_001003800.2(BICD2):c.1958G>A (p.Arg653His)
|
|
|
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>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.2017A>G (p.Met673Val)
|
|
|
NM_001003800.2(BICD2):c.2021A>G (p.Glu674Gly)
|
|
|
NM_001003800.2(BICD2):c.2057A>T (p.Lys686Met)
|
rs1587668129
|
|
NM_001003800.2(BICD2):c.2058G>C (p.Lys686Asn)
|
|
|
NM_001003800.2(BICD2):c.2065C>G (p.Gln689Glu)
|
|
|
NM_001003800.2(BICD2):c.2066A>G (p.Gln689Arg)
|
rs1554705339
|
|
NM_001003800.2(BICD2):c.2086G>C (p.Val696Leu)
|
|
|
NM_001003800.2(BICD2):c.2106+6G>C
|
rs201184890
|
|
NM_001003800.2(BICD2):c.2107-3C>T
|
|
|
NM_001003800.2(BICD2):c.2109G>A (p.Thr703=)
|
|
|
NM_001003800.2(BICD2):c.212T>C (p.Ile71Thr)
|
rs2131542548
|
|
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.2181G>T (p.Met727Ile)
|
|
|
NM_001003800.2(BICD2):c.2189G>T (p.Arg730Leu)
|
rs943974428
|
|
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.2234C>T (p.Ser745Leu)
|
|
|
NM_001003800.2(BICD2):c.2258+757_2305del
|
|
|
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.2314G>A (p.Glu772Lys)
|
|
|
NM_001003800.2(BICD2):c.2329A>G (p.Thr777Ala)
|
rs1587666004
|
|
NM_001003800.2(BICD2):c.2383C>T (p.Arg795Trp)
|
rs756421767
|
|
NM_001003800.2(BICD2):c.238G>T (p.Glu80Ter)
|
|
|
NM_001003800.2(BICD2):c.2398G>C (p.Glu800Gln)
|
|
|
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.2440G>A (p.Ala814Thr)
|
|
|
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.2485G>A (p.Ala829Thr)
|
rs1853278571
|
|
NM_001003800.2(BICD2):c.2510G>T (p.Gly837Val)
|
|
|
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.2563G>A (p.Asp855Asn)
|
|
|
NM_001003800.2(BICD2):c.260C>G (p.Thr87Arg)
|
|
|
NM_001003800.2(BICD2):c.27G>C (p.Glu9Asp)
|
rs2131542772
|
|
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.334C>G (p.Gln112Glu)
|
|
|
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.386G>A (p.Arg129His)
|
rs780485203
|
|
NM_001003800.2(BICD2):c.38T>G (p.Leu13Arg)
|
rs1340902320
|
|
NM_001003800.2(BICD2):c.398C>T (p.Thr133Ile)
|
|
|
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.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.479G>A (p.Arg160His)
|
|
|
NM_001003800.2(BICD2):c.479G>T (p.Arg160Leu)
|
|
|
NM_001003800.2(BICD2):c.503A>C (p.Lys168Thr)
|
|
|
NM_001003800.2(BICD2):c.50C>A (p.Ala17Glu)
|
|
|
NM_001003800.2(BICD2):c.527G>A (p.Arg176His)
|
rs1207286970
|
|
NM_001003800.2(BICD2):c.545C>T (p.Ser182Leu)
|
|
|
NM_001003800.2(BICD2):c.56C>T (p.Pro19Leu)
|
|
|
NM_001003800.2(BICD2):c.578A>C (p.Lys193Thr)
|
|
|
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.598C>G (p.Gln200Glu)
|
|
|
NM_001003800.2(BICD2):c.59A>G (p.Glu20Gly)
|
|
|
NM_001003800.2(BICD2):c.619G>A (p.Gly207Ser)
|
|
|
NM_001003800.2(BICD2):c.623T>C (p.Leu208Pro)
|
rs1853448827
|
|
NM_001003800.2(BICD2):c.64C>G (p.Leu22Val)
|
rs758212511
|
|
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.705C>G (p.Ile235Met)
|
rs1183367895
|
|
NM_001003800.2(BICD2):c.710A>G (p.Glu237Gly)
|
rs2131502641
|
|
NM_001003800.2(BICD2):c.725A>G (p.Glu242Gly)
|
rs369298186
|
|
NM_001003800.2(BICD2):c.735G>C (p.Glu245Asp)
|
rs2131502587
|
|
NM_001003800.2(BICD2):c.739C>A (p.Leu247Met)
|
|
|
NM_001003800.2(BICD2):c.766del (p.Ser256fs)
|
|
|
NM_001003800.2(BICD2):c.778G>T (p.Glu260Ter)
|
rs1445458188
|
|
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.82C>T (p.Arg28Trp)
|
|
|
NM_001003800.2(BICD2):c.833T>C (p.Val278Ala)
|
rs1853441867
|
|
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.877AAC[1] (p.Asn294del)
|
|
|
NM_001003800.2(BICD2):c.881A>T (p.Asn294Ile)
|
|
|
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.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.91C>T (p.His31Tyr)
|
rs1554709923
|
|
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.989C>A (p.Pro330His)
|
rs1564060970
|
|
NM_001003800.2(BICD2):c.989C>G (p.Pro330Arg)
|
|
|
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.1088T>C (p.Leu363Pro)
|
|
|
NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)
|
|
|
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
|
|
|
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
|
|
|
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
|
|
|
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
|
|
|
NM_001008212.2(OPTN):c.1242+6C>T
|
rs906152658
|
|
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
|
|
|
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
|
|
|
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
|
|
|
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.1402-3C>G
|
rs1588452749
|
|
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.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.1583_1584del (p.Asp527_Ser528insTer)
|
rs1446908199
|
|
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>T (p.Arg548Trp)
|
rs767360238
|
|
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.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.1724G>A (p.Cys575Tyr)
|
|
|
NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)
|
|
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NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)
|
|
|
NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)
|
|
|
NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)
|
|
|
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)
|
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NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)
|
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NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)
|
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|
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
|
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NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro)
|
rs369071606
|
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NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)
|
|
|
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr)
|
rs1269604352
|
|
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala)
|
rs372714385
|
|
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
|
|
|
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
|
|
|
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
|
|
|
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
|
|
|
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp)
|
rs113811959
|
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NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
|
|
|
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
|
|
|
NM_001008212.2(OPTN):c.553-6_553-5delinsGT
|
|
|
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
|
|
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NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
|
|
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NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
|
|
|
NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser)
|
rs1833208430
|
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NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
|
|
|
NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
|
|
|
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr)
|
rs1450047435
|
|
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
|
|
|
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
|
|
|
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
|
|
|
NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
|
|
|
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu)
|
rs760339006
|
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NM_001008212.2(OPTN):c.76C>A (p.His26Asn)
|
|
|
NM_001008212.2(OPTN):c.76C>G (p.His26Asp)
|
|
|
NM_001008212.2(OPTN):c.779+8A>G
|
|
|
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
|
|
|
NM_001008212.2(OPTN):c.780-3C>T
|
|
|
NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)
|
|
|
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln)
|
rs1833371043
|
|
NM_001008212.2(OPTN):c.882+5G>A
|
|
|
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys)
|
rs1833407271
|
|
NM_001008212.2(OPTN):c.949C>G (p.His317Asp)
|
rs1387105883
|
|
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
|
|
|
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_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
|
|
|
NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys)
|
rs1594431740
|
|
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.1058C>G (p.Thr353Arg)
|
rs1368446033
|
|
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe)
|
rs2154008237
|
|
NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg)
|
rs1768499175
|
|
NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe)
|
rs2154008241
|
|
NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg)
|
rs2154008248
|
|
NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn)
|
|
|
NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg)
|
rs1555246489
|
|
NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro)
|
rs1594451196
|
|
NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser)
|
|
|
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
|
rs1859389487
|
|
NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly)
|
rs1464006744
|
|
NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His)
|
rs2154008602
|
|
NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro)
|
|
|
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
|
rs1859394402
|
|
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro)
|
rs775232759
|
|
NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe)
|
|
|
NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met)
|
rs755120725
|
|
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.1432G>A (p.Val478Met)
|
rs2154008642
|
|
NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met)
|
|
|
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.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.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.158C>T (p.Ser53Phe)
|
rs1178878248
|
|
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703
|
|
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.1664G>A (p.Arg555Lys)
|
rs2154008764
|
|
NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr)
|
rs7122089
|
|
NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser)
|
rs201649839
|
|
NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val)
|
|
|
NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu)
|
rs1566445093
|
|
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
|
rs1859483901
|
|
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly)
|
rs1566445153
|
|
NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys)
|
rs1566445212
|
|
NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala)
|
rs2154006539
|
|
NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile)
|
rs1566445855
|
|
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
|
rs777841793
|
|
NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile)
|
rs779182888
|
|
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.184C>G (p.Arg62Gly)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg)
|
|
|
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.1905A>G (p.Glu635=)
|
|
|
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His)
|
rs1413846126
|
|
NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile)
|
|
|
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro)
|
rs1859530717
|
|
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
|
rs753926352
|
|
NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg)
|
rs377743886
|
|
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.2116G>A (p.Ala706Thr)
|
rs746334377
|
|
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.2183A>G (p.His728Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu)
|
rs536678728
|
|
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.2240C>G (p.Pro747Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser)
|
|
|
NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln)
|
|
|
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro)
|
rs778774954
|
|
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
|
|
|
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.2425C>T (p.Pro809Ser)
|
rs1464851091
|
|
NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu)
|
rs779854653
|
|
NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln)
|
rs950453484
|
|
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
|
|
|
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.254C>T (p.Ser85Phe)
|
|
|
NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg)
|
|
|
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.2599A>G (p.Lys867Glu)
|
rs753639706
|
|
NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup)
|
rs2154008959
|
|
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg)
|
rs1859576991
|
|
NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala)
|
rs914944175
|
|
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met)
|
rs17612126
|
|
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr)
|
rs1386297763
|
|
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg)
|
rs1064796817
|
|
NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val)
|
|
|
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.2771A>C (p.His924Pro)
|
rs1566448570
|
|
NM_002180.3(IGHMBP2):c.2785-3C>G
|
rs1859669997
|
|
NM_002180.3(IGHMBP2):c.2785-3C>T
|
rs1859669997
|
|
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
|
|
|
NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr)
|
|
|
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg)
|
rs1594459783
|
|
NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys)
|
|
|
NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg)
|
rs751847212
|
|
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr)
|
rs757839224
|
|
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
|
rs1859672618
|
|
NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly)
|
|
|
NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys)
|
|
|
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.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.2894A>G (p.Lys965Arg)
|
|
|
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
|
rs1858277137
|
|
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys)
|
rs865849237
|
|
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.2975G>T (p.Gly992Val)
|
rs886048608
|
|
NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro)
|
rs1271968797
|
|
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
|
rs1858278685
|
|
NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser)
|
rs767244307
|
|
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.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.375G>T (p.Gln125His)
|
|
|
NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro)
|
rs1594418365
|
|
NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)
|
|
|
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
|
rs1858294631
|
|
NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe)
|
|
|
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.551C>G (p.Pro184Arg)
|
|
|
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
|
rs1280728139
|
|
NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile)
|
rs369509318
|
|
NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro)
|
|
|
NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg)
|
|
|
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.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.664A>G (p.Thr222Ala)
|
rs1858437723
|
|
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.70G>A (p.Glu24Lys)
|
|
|
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val)
|
rs1858583764
|
|
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
|
rs1858584931
|
|
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.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.772T>C (p.Cys258Arg)
|
rs1566430083
|
|
NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr)
|
rs2154007219
|
|
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile)
|
rs2154007221
|
|
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.893A>G (p.Lys298Arg)
|
rs763867470
|
|
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
|
|
|
NM_002180.3(IGHMBP2):c.912+4G>C
|
|
|
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>T (p.Lys309Asn)
|
rs1858724192
|
|
NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser)
|
rs747287368
|
|
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala)
|
rs1858726463
|
|
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)
|
rs759353094
|
|
NM_003334.4(UBA1):c.1011C>G (p.His337Gln)
|
rs1044559809
|
|
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.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.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.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+9G>A
|
|
|
NM_003334.4(UBA1):c.1252A>G (p.Met418Val)
|
|
|
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.133G>A (p.Gly45Ser)
|
|
|
NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)
|
|
|
NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn)
|
rs782565391
|
|
NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)
|
|
|
NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr)
|
rs1602635435
|
|
NM_003334.4(UBA1):c.1516G>A (p.Asp506Asn)
|
rs2147263751
|
|
NM_003334.4(UBA1):c.1575G>A (p.Thr525=)
|
|
|
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.1631G>A (p.Arg544Gln)
|
rs1556790802
|
|
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.1687G>T (p.Asp563Tyr)
|
rs2147273137
|
|
NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser)
|
rs1556790852
|
|
NM_003334.4(UBA1):c.1741+15G>A
|
|
|
NM_003334.4(UBA1):c.1742-3C>T
|
|
|
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.1921A>G (p.Ile641Val)
|
|
|
NM_003334.4(UBA1):c.1939-11_1939-3del
|
rs1936835385
|
|
NM_003334.4(UBA1):c.1939-14_1939-13delinsAT
|
|
|
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.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>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.2219C>T (p.Pro740Leu)
|
|
|
NM_003334.4(UBA1):c.2252C>T (p.Pro751Leu)
|
rs1936888439
|
|
NM_003334.4(UBA1):c.2273A>G (p.Asn758Ser)
|
|
|
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.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.2492C>T (p.Ala831Val)
|
|
|
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.2653C>A (p.Leu885Met)
|
rs782087876
|
|
NM_003334.4(UBA1):c.2701G>A (p.Val901Met)
|
|
|
NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu)
|
rs782409785
|
|
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys)
|
rs1556794074
|
|
NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)
|
|
|
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.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.3173G>A (p.Arg1058His)
|
rs374092856
|
|
NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)
|
|
|
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.377A>G (p.Asn126Ser)
|
rs781821596
|
|
NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)
|
|
|
NM_003334.4(UBA1):c.406G>T (p.Ala136Ser)
|
rs1159180530
|
|
NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)
|
|
|
NM_003334.4(UBA1):c.484G>T (p.Val162Leu)
|
|
|
NM_003334.4(UBA1):c.500C>T (p.Thr167Ile)
|
rs1936389956
|
|
NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)
|
|
|
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.572C>T (p.Thr191Met)
|
|
|
NM_003334.4(UBA1):c.587+3G>A
|
rs782499064
|
|
NM_003334.4(UBA1):c.632C>G (p.Ser211Cys)
|
rs1936410112
|
|
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.683A>C (p.Asn228Thr)
|
rs1936415717
|
|
NM_003334.4(UBA1):c.683A>G (p.Asn228Ser)
|
rs1936415717
|
|
NM_003334.4(UBA1):c.746C>T (p.Ser249Phe)
|
rs782434472
|
|
NM_003334.4(UBA1):c.757G>A (p.Val253Ile)
|
|
|
NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)
|
|
|
NM_003334.4(UBA1):c.779A>G (p.Asn260Ser)
|
|
|
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>T (p.Lys268Asn)
|
rs781996319
|
|
NM_003334.4(UBA1):c.829A>G (p.Ile277Val)
|
|
|
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.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_003384.3(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.1066A>G (p.Lys356Glu)
|
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
|
|
|
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.1117A>C (p.Thr373Pro)
|
rs199759408
|
|
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg)
|
rs1595691599
|
|
NM_003384.3(VRK1):c.1160-2A>G
|
rs199916225
|
|
NM_003384.3(VRK1):c.1160-5T>C
|
rs2139857584
|
|
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.133C>A (p.Gln45Lys)
|
|
|
NM_003384.3(VRK1):c.184G>A (p.Val62Ile)
|
rs1555360117
|
|
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
|
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
|
|
|
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
|
|
|
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.284A>C (p.Gln95Pro)
|
rs1887677369
|
|
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
|
|
|
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
|
|
|
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly)
|
rs1887746110
|
|
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp)
|
rs1888003676
|
|
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
|
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
|
|
|
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu)
|
rs763034734
|
|
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser)
|
rs888338488
|
|
NM_003384.3(VRK1):c.483T>A (p.Ile161=)
|
rs1888008625
|
|
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro)
|
rs1888014947
|
|
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
|
|
|
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.536A>G (p.Lys179Arg)
|
rs1566708080
|
|
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.551T>A (p.Leu184His)
|
rs1888017746
|
|
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
|
|
|
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.608G>A (p.Arg203Gln)
|
|
|
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
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.673A>G (p.Ile225Val)
|
|
|
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.740T>C (p.Leu247Pro)
|
rs1478722226
|
|
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.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)
|
rs1566696565
|
|
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu)
|
rs1888147421
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
NM_003384.3(VRK1):c.8G>A (p.Arg3His)
|
rs902439355
|
|
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
|
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
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.971T>G (p.Leu324Arg)
|
rs2139814873
|
|
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
|
|
|
NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=)
|
rs765964997
|
|
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
|
|
|
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
|
|
|
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn)
|
rs1554091442
|
|
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.1054G>C (p.Glu352Gln)
|
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.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.1129C>G (p.Leu377Val)
|
|
|
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu)
|
rs1298281008
|
|
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
|
|
|
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.1154A>G (p.His385Arg)
|
rs2113513106
|
|
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
|
|
|
NM_003900.5(SQSTM1):c.1166-2A>G
|
|
|
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr)
|
rs2113524011
|
|
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn)
|
rs2113524028
|
|
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
|
|
|
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr)
|
rs1471635040
|
|
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.1207T>G (p.Ser403Ala)
|
|
|
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.1254G>C (p.Gln418His)
|
|
|
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.1310C>T (p.Pro437Leu)
|
|
|
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
|
|
|
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
|
|
|
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
|
|
|
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.16G>T (p.Val6Leu)
|
rs778461636
|
|
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.193G>A (p.Ala65Thr)
|
|
|
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
|
|
|
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.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.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+6G>C
|
|
|
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del)
|
rs2113487449
|
|
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
|
|
|
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp)
|
rs886060503
|
|
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
|
|
|
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
|
|
|
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>T (p.Gly12=)
|
|
|
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
|
|
|
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.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.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.463G>A (p.Glu155Lys)
|
|
|
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.482G>A (p.Arg161Gln)
|
rs118160361
|
|
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
|
|
|
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.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.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.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.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.608C>A (p.Pro203Gln)
|
|
|
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
|
|
|
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
|
|
|
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.662C>T (p.Thr221Met)
|
rs199663339
|
|
NM_003900.5(SQSTM1):c.674-18T>G
|
rs1317780724
|
|
NM_003900.5(SQSTM1):c.674-8A>G
|
|
|
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
|
|
|
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
|
|
|
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp)
|
rs1467107148
|
|
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.728G>C (p.Ser243Thr)
|
|
|
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
|
|
|
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
|
|
|
NM_003900.5(SQSTM1):c.754+5G>A
|
|
|
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.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.785G>A (p.Gly262Glu)
|
|
|
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
|
|
|
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser)
|
rs745853858
|
|
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
|
|
|
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
|
|
|
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.848G>C (p.Ser283Thr)
|
rs760785371
|
|
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)
|
rs759823891
|
|
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.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.923C>A (p.Ala308Glu)
|
|
|
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.964C>A (p.Pro322Thr)
|
|
|
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=)
|
rs2113511316
|
|
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys)
|
rs1436000961
|
|
NM_003900.5(SQSTM1):c.970del
|
rs758377403
|
|
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys)
|
rs1358261412
|
|
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_004082.5(DCTN1):c.1000G>A (p.Glu334Lys)
|
|
|
NM_004082.5(DCTN1):c.1000G>T (p.Glu334Ter)
|
|
|
NM_004082.5(DCTN1):c.1009A>G (p.Thr337Ala)
|
rs2103659798
|
|
NM_004082.5(DCTN1):c.1016T>C (p.Leu339Ser)
|
|
|
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.1054G>C (p.Asp352His)
|
|
|
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.1127+6G>A
|
rs951022782
|
|
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.1165G>A (p.Val389Met)
|
|
|
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.1203G>T (p.Glu401Asp)
|
rs2103655781
|
|
NM_004082.5(DCTN1):c.121C>T (p.Arg41Ter)
|
rs2103723456
|
|
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.1259A>G (p.Glu420Gly)
|
rs1674734372
|
|
NM_004082.5(DCTN1):c.1274A>C (p.Glu425Ala)
|
rs2103654759
|
|
NM_004082.5(DCTN1):c.1287+5G>A
|
|
|
NM_004082.5(DCTN1):c.1288-10C>G
|
rs72659375
|
|
NM_004082.5(DCTN1):c.1288-1G>A
|
rs2103653438
|
|
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.1340A>G (p.Asn447Ser)
|
|
|
NM_004082.5(DCTN1):c.1347T>A (p.Asn449Lys)
|
rs2103652994
|
|
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.1393-13T>C
|
|
|
NM_004082.5(DCTN1):c.1396G>A (p.Ala466Thr)
|
|
|
NM_004082.5(DCTN1):c.1397C>T (p.Ala466Val)
|
|
|
NM_004082.5(DCTN1):c.1408A>G (p.Met470Val)
|
|
|
NM_004082.5(DCTN1):c.1414G>A (p.Asp472Asn)
|
|
|
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.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.1514C>T (p.Ala505Val)
|
|
|
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.1584+2T>C
|
|
|
NM_004082.5(DCTN1):c.1584+5A>G
|
rs1283119090
|
|
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.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.1636C>T (p.Gln546Ter)
|
|
|
NM_004082.5(DCTN1):c.1649C>T (p.Pro550Leu)
|
rs2103644049
|
|
NM_004082.5(DCTN1):c.1667A>G (p.Lys556Arg)
|
|
|
NM_004082.5(DCTN1):c.1679C>A (p.Ala560Asp)
|
|
|
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.1702-3C>A
|
|
|
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.1719G>T (p.Leu573Phe)
|
|
|
NM_004082.5(DCTN1):c.1727T>C (p.Met576Thr)
|
rs2103640952
|
|
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.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.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.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.200G>T (p.Gly67Val)
|
rs886039228
|
|
NM_004082.5(DCTN1):c.2014C>G (p.His672Asp)
|
|
|
NM_004082.5(DCTN1):c.2015+1G>C
|
rs2103632452
|
|
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.2033G>C (p.Ser678Thr)
|
|
|
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.2089C>T (p.Arg697Cys)
|
rs1674533703
|
|
NM_004082.5(DCTN1):c.2093C>T (p.Ser698Phe)
|
|
|
NM_004082.5(DCTN1):c.2104C>T (p.Leu702Phe)
|
rs374500944
|
|
NM_004082.5(DCTN1):c.2140A>G (p.Thr714Ala)
|
|
|
NM_004082.5(DCTN1):c.2147A>C (p.Asn716Thr)
|
|
|
NM_004082.5(DCTN1):c.2161A>G (p.Thr721Ala)
|
|
|
NM_004082.5(DCTN1):c.2165A>C (p.Lys722Thr)
|
|
|
NM_004082.5(DCTN1):c.2180A>G (p.Tyr727Cys)
|
rs1287560245
|
|
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.2206G>A (p.Ala736Thr)
|
|
|
NM_004082.5(DCTN1):c.2214G>T (p.Gln738His)
|
|
|
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.223G>A (p.Gly75Ser)
|
rs2103722715
|
|
NM_004082.5(DCTN1):c.2254T>C (p.Phe752Leu)
|
|
|
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.2294G>A (p.Gly765Glu)
|
rs1410846987
|
|
NM_004082.5(DCTN1):c.2302C>T (p.Arg768Cys)
|
|
|
NM_004082.5(DCTN1):c.2316+5G>A
|
rs913439751
|
|
NM_004082.5(DCTN1):c.2317-2A>T
|
rs980571603
|
|
NM_004082.5(DCTN1):c.2320G>A (p.Gly774Arg)
|
|
|
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.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.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.2427T>G (p.Asp809Glu)
|
rs1573152954
|
|
NM_004082.5(DCTN1):c.2429C>G (p.Ala810Gly)
|
rs372500630
|
|
NM_004082.5(DCTN1):c.2432C>T (p.Pro811Leu)
|
|
|
NM_004082.5(DCTN1):c.2462C>G (p.Pro821Arg)
|
|
|
NM_004082.5(DCTN1):c.2467-8G>A
|
|
|
NM_004082.5(DCTN1):c.2480T>C (p.Leu827Pro)
|
rs1470946965
|
|
NM_004082.5(DCTN1):c.2493G>C (p.Arg831Ser)
|
|
|
NM_004082.5(DCTN1):c.2504C>T (p.Thr835Met)
|
|
|
NM_004082.5(DCTN1):c.2512G>A (p.Val838Met)
|
|
|
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.2628+5G>T
|
|
|
NM_004082.5(DCTN1):c.2629-7C>A
|
rs1278207608
|
|
NM_004082.5(DCTN1):c.2642C>G (p.Pro881Arg)
|
|
|
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.269G>A (p.Arg90His)
|
|
|
NM_004082.5(DCTN1):c.2705A>G (p.Lys902Arg)
|
|
|
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.2761C>G (p.Pro921Ala)
|
|
|
NM_004082.5(DCTN1):c.2768C>T (p.Pro923Leu)
|
|
|
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.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.2879A>G (p.Lys960Arg)
|
rs1354697657
|
|
NM_004082.5(DCTN1):c.287T>C (p.Val96Ala)
|
rs1675306520
|
|
NM_004082.5(DCTN1):c.2887G>C (p.Gly963Arg)
|
|
|
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.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.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.3017G>A (p.Arg1006Gln)
|
rs752882353
|
|
NM_004082.5(DCTN1):c.3029+19G>T
|
rs201665169
|
|
NM_004082.5(DCTN1):c.3029+5G>A
|
|
|
NM_004082.5(DCTN1):c.3034T>C (p.Phe1012Leu)
|
rs1674319515
|
|
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.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.3131C>T (p.Thr1044Met)
|
|
|
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.3175C>G (p.Leu1059Val)
|
rs752323459
|
|
NM_004082.5(DCTN1):c.3177G>A (p.Leu1059=)
|
rs1213472053
|
|
NM_004082.5(DCTN1):c.31C>T (p.Arg11Trp)
|
|
|
NM_004082.5(DCTN1):c.3209G>A (p.Arg1070Gln)
|
|
|
NM_004082.5(DCTN1):c.3212-2A>G
|
rs1674169667
|
|
NM_004082.5(DCTN1):c.3212-3C>T
|
|
|
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.3280C>T (p.Leu1094Phe)
|
rs762263842
|
|
NM_004082.5(DCTN1):c.3286C>A (p.Gln1096Lys)
|
rs1246390551
|
|
NM_004082.5(DCTN1):c.3296C>T (p.Ala1099Val)
|
|
|
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.3335G>C (p.Ser1112Thr)
|
|
|
NM_004082.5(DCTN1):c.3345G>A (p.Lys1115=)
|
|
|
NM_004082.5(DCTN1):c.3350C>G (p.Ala1117Gly)
|
|
|
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.34-1G>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.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.3517C>T (p.Arg1173Cys)
|
rs1442881228
|
|
NM_004082.5(DCTN1):c.3530-1G>A
|
rs2104393432
|
|
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn)
|
rs148146325
|
|
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.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.3571C>A (p.Gln1191Lys)
|
|
|
NM_004082.5(DCTN1):c.3580T>G (p.Ser1194Ala)
|
|
|
NM_004082.5(DCTN1):c.3584T>G (p.Leu1195Arg)
|
|
|
NM_004082.5(DCTN1):c.3609+20C>T
|
|
|
NM_004082.5(DCTN1):c.3610-13_3612del
|
rs2104389854
|
|
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.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.3694C>G (p.Leu1232Val)
|
|
|
NM_004082.5(DCTN1):c.3700-3C>G
|
|
|
NM_004082.5(DCTN1):c.3700-3C>T
|
rs747435830
|
|
NM_004082.5(DCTN1):c.3701C>T (p.Ala1234Val)
|
rs1200946425
|
|
NM_004082.5(DCTN1):c.3709G>A (p.Glu1237Lys)
|
|
|
NM_004082.5(DCTN1):c.371C>G (p.Thr124Arg)
|
rs769430160
|
|
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.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.3787G>A (p.Val1263Met)
|
rs2104386411
|
|
NM_004082.5(DCTN1):c.3797A>G (p.Gln1266Arg)
|
|
|
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.3830T>C (p.Ile1277Thr)
|
|
|
NM_004082.5(DCTN1):c.391C>G (p.Leu131Val)
|
|
|
NM_004082.5(DCTN1):c.393G>A (p.Leu131=)
|
|
|
NM_004082.5(DCTN1):c.394-2dup
|
rs1403988786
|
|
NM_004082.5(DCTN1):c.394-3C>T
|
|
|
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+1G>T
|
rs576198476
|
|
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+1G>T
|
rs1235693710
|
|
NM_004082.5(DCTN1):c.433-3C>T
|
rs375832615
|
|
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+6A>G
|
|
|
NM_004082.5(DCTN1):c.475G>T (p.Gly159Trp)
|
|
|
NM_004082.5(DCTN1):c.487G>T (p.Ala163Ser)
|
rs746429168
|
|
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.51G>T (p.Arg17Ser)
|
|
|
NM_004082.5(DCTN1):c.524C>T (p.Ala175Val)
|
|
|
NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn)
|
rs1365948671
|
|
NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser)
|
rs1674861180
|
|
NM_004082.5(DCTN1):c.557C>G (p.Pro186Arg)
|
|
|
NM_004082.5(DCTN1):c.562C>G (p.Gln188Glu)
|
|
|
NM_004082.5(DCTN1):c.577G>A (p.Ala193Thr)
|
|
|
NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu)
|
rs1057518814
|
|
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.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.629T>G (p.Leu210Arg)
|
rs1558943273
|
|
NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu)
|
rs754827026
|
|
NM_004082.5(DCTN1):c.694G>C (p.Glu232Gln)
|
rs1573164746
|
|
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.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.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.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.844-2A>G
|
rs2103661242
|
|
NM_004082.5(DCTN1):c.851A>G (p.Lys284Arg)
|
rs755017882
|
|
NM_004082.5(DCTN1):c.857C>T (p.Ala286Val)
|
rs896989123
|
|
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys)
|
rs1200414397
|
|
NM_004082.5(DCTN1):c.920C>G (p.Ala307Gly)
|
rs759253635
|
|
NM_004082.5(DCTN1):c.949C>T (p.Arg317Trp)
|
|
|
NM_004082.5(DCTN1):c.95G>A (p.Arg32His)
|
|
|
NM_004082.5(DCTN1):c.986A>G (p.Lys329Arg)
|
rs760539371
|
|
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_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.114_118del (p.Asn39fs)
|
|
|
NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)
|
|
|
NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)
|
|
|
NM_004738.5(VAPB):c.122_123del (p.Cys41fs)
|
|
|
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.159del (p.Cys53fs)
|
|
|
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.193G>A (p.Ala65Thr)
|
|
|
NM_004738.5(VAPB):c.194C>T (p.Ala65Val)
|
rs1555813002
|
|
NM_004738.5(VAPB):c.209C>T (p.Ser70Phe)
|
rs762603323
|
|
NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT
|
|
|
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>C (p.Glu82Asp)
|
rs2123088925
|
|
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.310G>A (p.Ala104Thr)
|
rs1295445556
|
|
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.376C>G (p.Pro126Ala)
|
|
|
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+6T>C
|
|
|
NM_004738.5(VAPB):c.421A>G (p.Ile141Val)
|
rs1392475929
|
|
NM_004738.5(VAPB):c.434C>T (p.Ala145Val)
|
|
|
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.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.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.587T>C (p.Leu196Pro)
|
rs1252954619
|
|
NM_004738.5(VAPB):c.589C>T (p.Arg197Trp)
|
rs371134278
|
|
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.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.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.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_004960.3(FUS):c.515_523+3del
|
|
|
NM_004960.4(FUS):c.1055A>T (p.Asp352Val)
|
|
|
NM_004960.4(FUS):c.1087C>G (p.Pro363Ala)
|
|
|
NM_004960.4(FUS):c.1111C>T (p.Arg371Cys)
|
rs773141319
|
|
NM_004960.4(FUS):c.1148G>A (p.Arg383His)
|
|
|
NM_004960.4(FUS):c.1157G>C (p.Arg386Pro)
|
|
|
NM_004960.4(FUS):c.1171C>G (p.Pro391Ala)
|
rs560450437
|
|
NM_004960.4(FUS):c.1190A>G (p.Tyr397Cys)
|
|
|
NM_004960.4(FUS):c.1234A>G (p.Ser412Gly)
|
|
|
NM_004960.4(FUS):c.1285C>T (p.Pro429Ser)
|
|
|
NM_004960.4(FUS):c.1317T>C (p.Ser439=)
|
rs377010944
|
|
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.1414C>T (p.Arg472Cys)
|
rs914056789
|
|
NM_004960.4(FUS):c.1436A>G (p.Tyr479Cys)
|
|
|
NM_004960.4(FUS):c.1451A>G (p.Tyr484Cys)
|
|
|
NM_004960.4(FUS):c.1471C>A (p.Arg491Ser)
|
rs753458243
|
|
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp)
|
rs267606831
|
|
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.1555C>G (p.Gln519Glu)
|
rs1567479067
|
|
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.167CTT[1] (p.Ser57del)
|
rs777545405
|
|
NM_004960.4(FUS):c.211A>G (p.Thr71Ala)
|
|
|
NM_004960.4(FUS):c.215C>T (p.Pro72Leu)
|
rs2144107259
|
|
NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr)
|
rs2079220021
|
|
NM_004960.4(FUS):c.335+6G>C
|
|
|
NM_004960.4(FUS):c.340G>A (p.Gly114Ser)
|
|
|
NM_004960.4(FUS):c.39-18G>A
|
|
|
NM_004960.4(FUS):c.392G>A (p.Ser131Asn)
|
|
|
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1])
|
rs747579808
|
|
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.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.587A>G (p.Asn196Ser)
|
|
|
NM_004960.4(FUS):c.623A>G (p.Tyr208Cys)
|
|
|
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[8] (p.Gly230_Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup)
|
rs72550890
|
|
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
|
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NM_004960.4(FUS):c.689G>T (p.Gly230Val)
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NM_004960.4(FUS):c.691G>A (p.Gly231Ser)
|
rs2144114616
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NM_004960.4(FUS):c.700C>T (p.Arg234Cys)
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NM_004960.4(FUS):c.731G>A (p.Arg244His)
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NM_004960.4(FUS):c.735_737dup (p.Gly247_Arg248insGly)
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NM_004960.4(FUS):c.739_750dup (p.Gly250_Arg251insGlyArgGlyGly)
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NM_004960.4(FUS):c.743G>A (p.Arg248His)
|
rs760351730
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NM_004960.4(FUS):c.761T>C (p.Met254Thr)
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|
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NM_004960.4(FUS):c.823C>T (p.His275Tyr)
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NM_004960.4(FUS):c.831C>T (p.Ser277=)
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NM_004960.4(FUS):c.833-6A>G
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NM_004960.4(FUS):c.884A>G (p.Asn295Ser)
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NM_005866.4(SIGMAR1):c.106G>C (p.Val36Leu)
|
rs2132330402
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NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys)
|
rs867727095
|
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NM_005866.4(SIGMAR1):c.130C>G (p.Gln44Glu)
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NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro)
|
rs779459049
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NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu)
|
rs2132329730
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NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly)
|
rs1382890194
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NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del)
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NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala)
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NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala)
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NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu)
|
rs1820911034
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NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser)
|
rs768933234
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NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg)
|
rs768933234
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NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile)
|
rs1820909011
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NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser)
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NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys)
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NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala)
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NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=)
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NM_005866.4(SIGMAR1):c.356G>A (p.Arg119His)
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NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg)
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rs200076129
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NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp)
|
rs200076129
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NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala)
|
rs2132324643
|
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NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp)
|
rs1820834441
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NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu)
|
rs1820832825
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NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln)
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NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala)
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NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del)
|
rs2132324233
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NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr)
|
rs777650644
|
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NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro)
|
rs777650644
|
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NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs)
|
rs1554707680
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NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)
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NM_005866.4(SIGMAR1):c.56C>T (p.Ala19Val)
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NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)
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NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu)
|
rs1406092949
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NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe)
|
rs1820825348
|
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NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu)
|
rs1396152845
|
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NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)
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|
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NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs)
|
rs752243393
|
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NM_005866.4(SIGMAR1):c.72G>C (p.Gln24His)
|
rs764002616
|
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NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg)
|
rs1564096623
|
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NM_005866.4(SIGMAR1):c.89T>C (p.Leu30Pro)
|
rs1820931363
|
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NM_006308.3(HSPB3):c.127G>A (p.Val43Met)
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|
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NM_006308.3(HSPB3):c.176C>T (p.Ala59Val)
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NM_006308.3(HSPB3):c.185C>T (p.Thr62Met)
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NM_006308.3(HSPB3):c.209A>G (p.His70Arg)
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NM_006308.3(HSPB3):c.224T>A (p.Leu75Gln)
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NM_006308.3(HSPB3):c.229G>T (p.Val77Leu)
|
rs148535965
|
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NM_006308.3(HSPB3):c.25C>T (p.Leu9Phe)
|
|
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NM_006308.3(HSPB3):c.275G>A (p.Gly92Asp)
|
rs777949955
|
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NM_006308.3(HSPB3):c.408T>C (p.Asp136=)
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|
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NM_006308.3(HSPB3):c.92A>G (p.Asp31Gly)
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NM_006736.6(DNAJB2):c.17A>G (p.Glu6Gly)
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NM_006736.6(DNAJB2):c.187G>A (p.Glu63Lys)
|
rs1322194084
|
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NM_006736.6(DNAJB2):c.190A>G (p.Ile64Val)
|
rs1165402332
|
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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
|
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NM_006736.6(DNAJB2):c.203A>T (p.Tyr68Phe)
|
|
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NM_006736.6(DNAJB2):c.218T>C (p.Leu73Pro)
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|
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NM_006736.6(DNAJB2):c.236G>A (p.Gly79Asp)
|
|
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NM_006736.6(DNAJB2):c.245G>A (p.Arg82Gln)
|
rs576205050
|
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NM_006736.6(DNAJB2):c.259A>G (p.Ser87Gly)
|
|
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NM_006736.6(DNAJB2):c.289C>T (p.Arg97Cys)
|
rs1951909330
|
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NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly)
|
rs1233939998
|
|
NM_006736.6(DNAJB2):c.337T>C (p.Phe113Leu)
|
rs1349202271
|
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NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp)
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|
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NM_006736.6(DNAJB2):c.406C>G (p.Pro136Ala)
|
rs1951918459
|
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NM_006736.6(DNAJB2):c.408CTT[1] (p.Phe138del)
|
rs916480780
|
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NM_006736.6(DNAJB2):c.425C>T (p.Ser142Phe)
|
|
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NM_006736.6(DNAJB2):c.433C>T (p.Pro145Ser)
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|
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NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro)
|
rs1223035732
|
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NM_006736.6(DNAJB2):c.446-3C>T
|
rs1951921657
|
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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.476C>G (p.Pro159Arg)
|
rs1951922090
|
|
NM_006736.6(DNAJB2):c.499G>A (p.Val167Ile)
|
|
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NM_006736.6(DNAJB2):c.4G>A (p.Ala2Thr)
|
rs2125081450
|
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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
|
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NM_006736.6(DNAJB2):c.548+4A>G
|
|
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NM_006736.6(DNAJB2):c.548+5G>A
|
rs1951923213
|
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NM_006736.6(DNAJB2):c.555G>A (p.Met185Ile)
|
rs1574901375
|
|
NM_006736.6(DNAJB2):c.562G>A (p.Gly188Arg)
|
|
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NM_006736.6(DNAJB2):c.572G>A (p.Arg191Gln)
|
|
|
NM_006736.6(DNAJB2):c.583G>C (p.Glu195Gln)
|
rs2125083127
|
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NM_006736.6(DNAJB2):c.620G>T (p.Gly207Val)
|
|
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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.641T>C (p.Leu214Pro)
|
|
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NM_006736.6(DNAJB2):c.65+12C>T
|
|
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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.671A>C (p.Gln224Pro)
|
|
|
NM_006736.6(DNAJB2):c.68A>G (p.Tyr23Cys)
|
rs1951895139
|
|
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.730C>T (p.Pro244Ser)
|
rs749436734
|
|
NM_006736.6(DNAJB2):c.739A>G (p.Ser247Gly)
|
rs2125083744
|
|
NM_006736.6(DNAJB2):c.74G>A (p.Arg25His)
|
rs1403156116
|
|
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.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_007126.5(VCP):c.1031T>C (p.Met344Thr)
|
|
|
NM_007126.5(VCP):c.1058T>C (p.Ile353Thr)
|
|
|
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)
|
rs1828723406
|
|
NM_007126.5(VCP):c.1115C>T (p.Pro372Leu)
|
|
|
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.1180G>A (p.Val394Met)
|
rs1587122661
|
|
NM_007126.5(VCP):c.1186C>G (p.Leu396Val)
|
rs2131031813
|
|
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.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.1357C>T (p.Arg453Trp)
|
rs755519450
|
|
NM_007126.5(VCP):c.1433A>G (p.Asp478Gly)
|
rs1554668345
|
|
NM_007126.5(VCP):c.1465C>T (p.Leu489=)
|
|
|
NM_007126.5(VCP):c.1528C>T (p.Pro510Ser)
|
|
|
NM_007126.5(VCP):c.1637A>G (p.Glu546Gly)
|
|
|
NM_007126.5(VCP):c.1696-34_1716dup
|
rs2131029563
|
|
NM_007126.5(VCP):c.1696-3C>T
|
|
|
NM_007126.5(VCP):c.1699C>T (p.Arg567Cys)
|
|
|
NM_007126.5(VCP):c.1790C>T (p.Ala597Val)
|
rs890637602
|
|
NM_007126.5(VCP):c.1837A>G (p.Thr613Ala)
|
rs2131029426
|
|
NM_007126.5(VCP):c.1864G>T (p.Ala622Ser)
|
rs1828681453
|
|
NM_007126.5(VCP):c.1915C>A (p.Leu639Ile)
|
|
|
NM_007126.5(VCP):c.194G>A (p.Arg65Gln)
|
|
|
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.2014T>G (p.Leu672Val)
|
rs757829124
|
|
NM_007126.5(VCP):c.2036C>T (p.Thr679Ile)
|
|
|
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.2190G>T (p.Glu730Asp)
|
|
|
NM_007126.5(VCP):c.2221C>T (p.Arg741Cys)
|
|
|
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.2266G>A (p.Glu756Lys)
|
rs1587117319
|
|
NM_007126.5(VCP):c.230G>A (p.Cys77Tyr)
|
|
|
NM_007126.5(VCP):c.2315+6T>C
|
|
|
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.2381G>A (p.Ser794Asn)
|
|
|
NM_007126.5(VCP):c.244A>C (p.Ile82Leu)
|
|
|
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.273C>G (p.Asn91Lys)
|
rs1563980966
|
|
NM_007126.5(VCP):c.298A>G (p.Ile100Val)
|
|
|
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.320A>T (p.Asp107Val)
|
rs1563980440
|
|
NM_007126.5(VCP):c.355A>G (p.Ile119Val)
|
|
|
NM_007126.5(VCP):c.365C>T (p.Thr122Ile)
|
rs2131038987
|
|
NM_007126.5(VCP):c.367G>A (p.Val123Met)
|
rs2131038977
|
|
NM_007126.5(VCP):c.367G>C (p.Val123Leu)
|
|
|
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>C (p.Gly128Arg)
|
|
|
NM_007126.5(VCP):c.383G>C (p.Gly128Ala)
|
rs1554668979
|
|
NM_007126.5(VCP):c.397G>T (p.Val133Leu)
|
|
|
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.445+8C>G
|
|
|
NM_007126.5(VCP):c.446-4_446-3delinsAT
|
rs1828808684
|
|
NM_007126.5(VCP):c.453T>G (p.Ile151Met)
|
rs1828808459
|
|
NM_007126.5(VCP):c.460G>T (p.Val154Phe)
|
rs1587127201
|
|
NM_007126.5(VCP):c.467G>T (p.Gly156Val)
|
|
|
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.523A>G (p.Ile175Val)
|
rs1828806031
|
|
NM_007126.5(VCP):c.565A>G (p.Ile189Val)
|
|
|
NM_007126.5(VCP):c.577-2A>G
|
rs1828784075
|
|
NM_007126.5(VCP):c.584A>G (p.Glu195Gly)
|
|
|
NM_007126.5(VCP):c.605G>A (p.Gly202Glu)
|
|
|
NM_007126.5(VCP):c.636G>C (p.Gln212His)
|
|
|
NM_007126.5(VCP):c.648A>G (p.Ile216Met)
|
rs1828783140
|
|
NM_007126.5(VCP):c.677A>T (p.His226Leu)
|
rs2131035134
|
|
NM_007126.5(VCP):c.722T>C (p.Ile241Thr)
|
|
|
NM_007126.5(VCP):c.760A>T (p.Ile254Phe)
|
|
|
NM_007126.5(VCP):c.767G>A (p.Arg256Gln)
|
rs1828757317
|
|
NM_007126.5(VCP):c.792CTT[3] (p.Phe267del)
|
|
|
NM_007126.5(VCP):c.810T>C (p.Asn270=)
|
rs1372175418
|
|
NM_007126.5(VCP):c.811+2_811+3inv
|
|
|
NM_007126.5(VCP):c.82G>A (p.Val28Ile)
|
rs1480586527
|
|
NM_007126.5(VCP):c.84T>A (p.Val28=)
|
rs1587130660
|
|
NM_007126.5(VCP):c.94A>G (p.Ile32Val)
|
rs1828872947
|
|
NM_007126.5(VCP):c.995T>C (p.Met332Thr)
|
rs1828737891
|
|
NM_007375.4(TARDBP):c.*697G>A
|
rs387906334
|
|
NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser)
|
|
|
NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)
|
|
|
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.1121A>T (p.Tyr374Phe)
|
rs1643661597
|
|
NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter)
|
|
|
NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter)
|
rs147795017
|
|
NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)
|
|
|
NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter)
|
|
|
NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr)
|
|
|
NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr)
|
|
|
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.1178C>T (p.Ser393Leu)
|
rs80356743
|
|
NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp)
|
rs2100857132
|
|
NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)
|
|
|
NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)
|
|
|
NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp)
|
rs1643465434
|
|
NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile)
|
rs1553159049
|
|
NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)
|
|
|
NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)
|
|
|
NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu)
|
|
|
NM_007375.4(TARDBP):c.639G>C (p.Gln213His)
|
|
|
NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser)
|
|
|
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala)
|
rs121908395
|
|
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)
|
rs1643653768
|
|
NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala)
|
|
|
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.976G>A (p.Ala326Thr)
|
|
|
NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn)
|
rs80356728
|
|
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)
|
|
|
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)
|
|
|
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.1180T>G (p.Tyr394Asp)
|
rs1267274595
|
|
NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)
|
|
|
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.1249-5A>C
|
|
|
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)
|
|
|
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile)
|
rs201332131
|
|
NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)
|
|
|
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)
|
|
|
NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)
|
|
|
NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)
|
|
|
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln)
|
rs2136079527
|
|
NM_013254.4(TBK1):c.1340+3A>G
|
|
|
NM_013254.4(TBK1):c.1341-10_1341-9del
|
|
|
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.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.1466A>G (p.Asn489Ser)
|
rs2136082596
|
|
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)
|
|
|
NM_013254.4(TBK1):c.149A>C (p.Asp50Ala)
|
rs1010930015
|
|
NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)
|
|
|
NM_013254.4(TBK1):c.1566C>G (p.Ile522Met)
|
rs375618295
|
|
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys)
|
rs922333386
|
|
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro)
|
rs1192216525
|
|
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.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+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.1760+4_1760+7del
|
rs753802322
|
|
NM_013254.4(TBK1):c.1761-3C>G
|
|
|
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.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.1952C>A (p.Thr651Asn)
|
rs1592376939
|
|
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)
|
|
|
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly)
|
rs2136089009
|
|
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser)
|
rs1306279522
|
|
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.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+4A>C
|
rs2136056750
|
|
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.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.350G>A (p.Arg117Gln)
|
|
|
NM_013254.4(TBK1):c.353A>T (p.Asp118Val)
|
|
|
NM_013254.4(TBK1):c.358+5G>A
|
rs2136061124
|
|
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)
|
|
|
NM_013254.4(TBK1):c.401G>A (p.Arg134His)
|
|
|
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.511G>A (p.Val171Ile)
|
rs2136063606
|
|
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.541-3T>G
|
rs747738866
|
|
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.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.731G>T (p.Gly244Val)
|
|
|
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.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.813-3T>C
|
rs2040770701
|
|
NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe)
|
rs2136052800
|
|
NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)
|
|
|
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)
|
|
|
NM_013254.4(TBK1):c.935A>G (p.His312Arg)
|
|
|
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.1060G>A (p.Val354Ile)
|
rs748840115
|
|
NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu)
|
|
|
NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr)
|
|
|
NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn)
|
|
|
NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His)
|
|
|
NM_013444.4(UBQLN2):c.1279C>G (p.Arg427Gly)
|
rs2068634857
|
|
NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile)
|
|
|
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.1490C>G (p.Pro497Arg)
|
rs387906709
|
|
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu)
|
rs387906709
|
|
NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met)
|
|
|
NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn)
|
|
|
NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val)
|
|
|
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.1601C>T (p.Thr534Met)
|
|
|
NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser)
|
|
|
NM_013444.4(UBQLN2):c.1722G>T (p.Gln574His)
|
|
|
NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu)
|
|
|
NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp)
|
|
|
NM_013444.4(UBQLN2):c.180G>T (p.Ala60=)
|
|
|
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.364A>G (p.Asn122Asp)
|
|
|
NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser)
|
|
|
NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile)
|
|
|
NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu)
|
|
|
NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile)
|
|
|
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.938G>A (p.Arg313His)
|
rs2068632850
|
|
NM_013444.4(UBQLN2):c.968C>T (p.Pro323Leu)
|
rs1555977386
|
|
NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile)
|
|
|
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
|
|
|
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
|
|
|
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.32A>T (p.Asp11Val)
|
|
|
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys)
|
rs747904374
|
|
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.421A>G (p.Met141Val)
|
rs1706285788
|
|
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.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.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.632G>C (p.Gly211Ala)
|
|
|
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_015046.7(SETX):c.1006G>A (p.Val336Ile)
|
|
|
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
|
|
|
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
|
|
|
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys)
|
rs1554821963
|
|
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)
|
rs774123592
|
|
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
|
|
|
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser)
|
rs2131461800
|
|
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr)
|
rs754200234
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
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.1544C>T (p.Thr515Ile)
|
|
|
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala)
|
rs2131460183
|
|
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp)
|
rs1847120441
|
|
NM_015046.7(SETX):c.173A>G (p.His58Arg)
|
|
|
NM_015046.7(SETX):c.177+6A>G
|
rs2131575018
|
|
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.1910G>A (p.Cys637Tyr)
|
|
|
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp)
|
rs998278975
|
|
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
|
|
|
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
|
|
|
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
|
|
|
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys)
|
rs1339144218
|
|
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
|
|
|
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
|
|
|
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile)
|
rs1554821571
|
|
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
|
|
|
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly)
|
rs2131454695
|
|
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
|
|
|
NM_015046.7(SETX):c.2303A>T (p.Lys768Met)
|
rs1554821462
|
|
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
|
|
|
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.23C>T (p.Thr8Met)
|
rs1057520367
|
|
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
|
|
|
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
|
|
|
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
|
|
|
NM_015046.7(SETX):c.2516A>T (p.His839Leu)
|
rs1847047743
|
|
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.2580C>A (p.Asn860Lys)
|
|
|
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.2721GAA[1] (p.Lys909del)
|
|
|
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.2849C>A (p.Ser950Tyr)
|
rs1847020598
|
|
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
|
|
|
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
|
|
|
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
|
|
|
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)
|
rs765663814
|
|
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
|
|
|
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
|
|
|
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.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.3422A>T (p.His1141Leu)
|
rs1554820904
|
|
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu)
|
rs748505684
|
|
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
|
|
|
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr)
|
rs1846954116
|
|
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
|
|
|
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
|
|
|
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala)
|
rs1846942479
|
|
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.3700A>G (p.Arg1234Gly)
|
|
|
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
|
|
|
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg)
|
rs1467137301
|
|
NM_015046.7(SETX):c.3737A>C (p.His1246Pro)
|
rs2131440106
|
|
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del)
|
rs2131439346
|
|
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
|
|
|
NM_015046.7(SETX):c.388+8T>G
|
|
|
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
|
|
|
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)
|
rs1564539968
|
|
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
|
|
|
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
|
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
|
|
|
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
|
|
|
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.4259A>G (p.Glu1420Gly)
|
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
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.4468G>A (p.Asp1490Asn)
|
|
|
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
|
|
|
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys)
|
rs199974622
|
|
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
|
|
|
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val)
|
rs1554820219
|
|
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys)
|
rs2131431252
|
|
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser)
|
rs1554820196
|
|
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
|
|
|
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr)
|
rs781383567
|
|
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser)
|
rs1846817047
|
|
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
|
|
|
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
|
|
|
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
|
|
|
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
|
|
|
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
|
|
|
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
|
|
|
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
|
|
|
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
|
|
|
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu)
|
rs1846757741
|
|
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
|
|
|
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
|
|
|
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.5378A>T (p.Tyr1793Phe)
|
|
|
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
|
|
|
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.5587A>T (p.Thr1863Ser)
|
|
|
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
|
|
|
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
|
|
|
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro)
|
rs1844774142
|
|
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp)
|
rs1443102808
|
|
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
|
|
|
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
|
|
|
NM_015046.7(SETX):c.589T>A (p.Phe197Ile)
|
rs1847622210
|
|
NM_015046.7(SETX):c.590T>C (p.Phe197Ser)
|
rs1847622037
|
|
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
|
|
|
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.5986G>T (p.Ala1996Ser)
|
rs2131284986
|
|
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
|
|
|
NM_015046.7(SETX):c.6107-3C>T
|
|
|
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys)
|
rs762479596
|
|
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.6209-12T>G
|
|
|
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
|
|
|
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.6338A>T (p.Asp2113Val)
|
rs1589647043
|
|
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly)
|
rs957607977
|
|
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln)
|
rs1387036733
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
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.6554A>T (p.Gln2185Leu)
|
rs1843510567
|
|
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
|
|
|
NM_015046.7(SETX):c.6654+5G>A
|
rs1843497922
|
|
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
|
rs764541704
|
|
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.6764C>T (p.Thr2255Ile)
|
|
|
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu)
|
rs1843274414
|
|
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.6853G>A (p.Ala2285Thr)
|
|
|
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
|
|
|
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
|
|
|
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
|
|
|
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.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
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.7200-3T>C
|
|
|
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
|
|
|
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
|
|
|
NM_015046.7(SETX):c.727A>G (p.Met243Val)
|
|
|
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
|
|
|
NM_015046.7(SETX):c.7370A>G (p.His2457Arg)
|
rs753051382
|
|
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
|
|
|
NM_015046.7(SETX):c.7427C>A (p.Pro2476His)
|
rs767515528
|
|
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.7461G>C (p.Gln2487His)
|
|
|
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn)
|
rs1564464193
|
|
NM_015046.7(SETX):c.7530C>G (p.His2510Gln)
|
rs1303389955
|
|
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser)
|
rs557347174
|
|
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
|
|
|
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.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.7641dup (p.Glu2548Ter)
|
rs1039417117
|
|
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
|
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
|
|
|
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly)
|
rs2131112014
|
|
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
|
|
|
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
|
|
|
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer)
|
rs2131111712
|
|
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.7860C>A (p.Ser2620Arg)
|
rs778362262
|
|
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
|
|
|
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.823G>C (p.Glu275Gln)
|
rs901741485
|
|
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
|
|
|
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
|
|
|
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu)
|
rs372128042
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
|
|
|
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe)
|
rs749691951
|
|
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
|
|
|
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser)
|
rs1404319370
|
|
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
|
|
|
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
|
|
|
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.368C>G (p.Ala123Gly)
|
rs2118980284
|
|
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
|
|
|
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln)
|
rs373193552
|
|
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)
|
rs1828647523
|
|
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
|
|
|
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
|
|
|
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
|
|
|
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
|
|
|
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
|
|
|
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)
|
rs140199968
|
|
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr)
|
rs2118975671
|
|
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser)
|
rs561283125
|
|
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.808_810del (p.Ser270del)
|
rs755175121
|
|
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
|
|
|
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)
|
rs1828567719
|
|
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
|
|
|
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
|
|
|
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr)
|
rs1561938220
|
|
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
|
|
|
NM_018834.6(MATR3):c.1130-15T>A
|
|
|
NM_018834.6(MATR3):c.1130-15T>C
|
|
|
NM_018834.6(MATR3):c.1130-8C>G
|
|
|
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
|
|
|
NM_018834.6(MATR3):c.1182+4A>C
|
rs2151988816
|
|
NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile)
|
|
|
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
|
|
|
NM_018834.6(MATR3):c.1328C>A (p.Thr443Asn)
|
rs2151995266
|
|
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.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.1555delinsAACTTT (p.Pro519fs)
|
|
|
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn)
|
rs1581251198
|
|
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn)
|
rs1033118784
|
|
NM_018834.6(MATR3):c.1617G>A (p.Met539Ile)
|
rs2152007107
|
|
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.1736T>A (p.Ile579Asn)
|
|
|
NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
|
|
|
NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
|
|
|
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.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.1904G>A (p.Gly635Asp)
|
rs1755638457
|
|
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.1915A>T (p.Thr639Ser)
|
rs765603068
|
|
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.196C>A (p.Gln66Lys)
|
|
|
NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
|
|
|
NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)
|
|
|
NM_018834.6(MATR3):c.2038G>C (p.Asp680His)
|
rs752161415
|
|
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.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+3A>G
|
|
|
NM_018834.6(MATR3):c.2149-5T>C
|
|
|
NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
|
|
|
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.2189C>G (p.Ala730Gly)
|
rs762668138
|
|
NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
|
|
|
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.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.2302_2304del (p.Glu768del)
|
|
|
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn)
|
rs1755815403
|
|
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
|
|
|
NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
|
|
|
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
|
rs368217486
|
|
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.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+2_2371+3insATAGACTATGTGATACCTAAAACAG
|
|
|
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
|
|
|
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+3A>G
|
rs2152024439
|
|
NM_018834.6(MATR3):c.2494-14_2494-11del
|
|
|
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
|
|
|
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
|
|
|
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.272G>A (p.Ser91Asn)
|
rs1460343731
|
|
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
|
|
|
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser)
|
rs2151960855
|
|
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)
|
rs587777302
|
|
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.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.628_630del (p.Glu210del)
|
rs1754795693
|
|
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.743G>T (p.Ser248Ile)
|
|
|
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.815C>G (p.Ala272Gly)
|
|
|
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.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.952C>A (p.Arg318=)
|
|
|
NM_018834.6(MATR3):c.975-9T>G
|
|
|
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)
|
|
|
NM_020631.6(PLEKHG5):c.1013A>G (p.Gln338Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1037A>G (p.His346Arg)
|
rs2148587188
|
|
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.1073TCA[1] (p.Ile359del)
|
|
|
NM_020631.6(PLEKHG5):c.1080+5G>T
|
rs1644623669
|
|
NM_020631.6(PLEKHG5):c.1086C>G (p.Phe362Leu)
|
|
|
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.112GAG[8] (p.Glu43_Ser44insGluGlu)
|
rs760139855
|
|
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu43_Ser44insGluGluGlu)
|
rs760139855
|
|
NM_020631.6(PLEKHG5):c.1131+18_1131+34del
|
|
|
NM_020631.6(PLEKHG5):c.1131+19G>A
|
rs746822140
|
|
NM_020631.6(PLEKHG5):c.1145G>T (p.Arg382Leu)
|
rs1020039192
|
|
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.1251G>T (p.Gln417His)
|
rs568915094
|
|
NM_020631.6(PLEKHG5):c.1256G>A (p.Gly419Glu)
|
rs768648425
|
|
NM_020631.6(PLEKHG5):c.1271G>C (p.Gly424Ala)
|
rs1209779631
|
|
NM_020631.6(PLEKHG5):c.1282-7G>A
|
rs780551776
|
|
NM_020631.6(PLEKHG5):c.1304A>G (p.Tyr435Cys)
|
rs1569857188
|
|
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.1334G>T (p.Cys445Phe)
|
|
|
NM_020631.6(PLEKHG5):c.1336A>G (p.Met446Val)
|
|
|
NM_020631.6(PLEKHG5):c.1346T>C (p.Met449Thr)
|
rs1553174146
|
|
NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln)
|
rs1309731055
|
|
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys)
|
rs2148583545
|
|
NM_020631.6(PLEKHG5):c.1392+8C>T
|
rs771832632
|
|
NM_020631.6(PLEKHG5):c.1396G>A (p.Ala466Thr)
|
|
|
NM_020631.6(PLEKHG5):c.1396G>C (p.Ala466Pro)
|
rs757292650
|
|
NM_020631.6(PLEKHG5):c.1412A>G (p.Gln471Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1415G>A (p.Cys472Tyr)
|
rs2148583006
|
|
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met)
|
rs1644551354
|
|
NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn)
|
rs1243221708
|
|
NM_020631.6(PLEKHG5):c.1435G>A (p.Asp479Asn)
|
rs2148582918
|
|
NM_020631.6(PLEKHG5):c.1439T>G (p.Met480Arg)
|
rs2148582901
|
|
NM_020631.6(PLEKHG5):c.1448A>T (p.Lys483Ile)
|
|
|
NM_020631.6(PLEKHG5):c.1457A>G (p.Gln486Arg)
|
|
|
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.1495C>G (p.Leu499Val)
|
rs1064796900
|
|
NM_020631.6(PLEKHG5):c.1498A>G (p.Arg500Gly)
|
|
|
NM_020631.6(PLEKHG5):c.1500G>C (p.Arg500Ser)
|
|
|
NM_020631.6(PLEKHG5):c.1513C>T (p.Pro505Ser)
|
rs530846615
|
|
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.1535T>C (p.Val512Ala)
|
|
|
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser)
|
rs1214327374
|
|
NM_020631.6(PLEKHG5):c.154C>G (p.Arg52Gly)
|
rs777277703
|
|
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu)
|
rs1464358180
|
|
NM_020631.6(PLEKHG5):c.1570C>T (p.His524Tyr)
|
rs761251191
|
|
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.1630C>T (p.Arg544Cys)
|
rs1046202834
|
|
NM_020631.6(PLEKHG5):c.1668C>G (p.Asp556Glu)
|
|
|
NM_020631.6(PLEKHG5):c.1747C>G (p.Arg583Gly)
|
rs766560337
|
|
NM_020631.6(PLEKHG5):c.1768A>G (p.Ser590Gly)
|
|
|
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.1827G>A (p.Thr609=)
|
|
|
NM_020631.6(PLEKHG5):c.1840G>C (p.Val614Leu)
|
rs752514480
|
|
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr)
|
rs759538158
|
|
NM_020631.6(PLEKHG5):c.1902C>A (p.Asp634Glu)
|
|
|
NM_020631.6(PLEKHG5):c.1904A>G (p.Lys635Arg)
|
|
|
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.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.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.2117A>G (p.Glu706Gly)
|
|
|
NM_020631.6(PLEKHG5):c.2138A>C (p.Glu713Ala)
|
rs1241363420
|
|
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[9] (p.Glu723_Gly724insGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2151G>C (p.Glu717Asp)
|
rs761945225
|
|
NM_020631.6(PLEKHG5):c.2156_2157insAGA (p.Glu723_Gly724insGlu)
|
rs1553173388
|
|
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.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.2209A>G (p.Ile737Val)
|
rs1644484109
|
|
NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2227G>C (p.Gly743Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala)
|
rs1245961862
|
|
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.2244G>C (p.Gln748His)
|
rs1569839599
|
|
NM_020631.6(PLEKHG5):c.2252C>T (p.Ala751Val)
|
|
|
NM_020631.6(PLEKHG5):c.2279C>T (p.Ala760Val)
|
rs1569836518
|
|
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln)
|
rs532817130
|
|
NM_020631.6(PLEKHG5):c.2312C>A (p.Ser771Tyr)
|
rs1644465940
|
|
NM_020631.6(PLEKHG5):c.2332G>T (p.Gly778Cys)
|
rs768087057
|
|
NM_020631.6(PLEKHG5):c.2372C>A (p.Thr791Asn)
|
|
|
NM_020631.6(PLEKHG5):c.2381C>T (p.Ser794Leu)
|
rs2148576538
|
|
NM_020631.6(PLEKHG5):c.2428G>T (p.Gly810Cys)
|
rs76625876
|
|
NM_020631.6(PLEKHG5):c.2453C>T (p.Ala818Val)
|
|
|
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.2464C>A (p.Leu822Ile)
|
|
|
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.2513A>G (p.Glu838Gly)
|
rs1287801386
|
|
NM_020631.6(PLEKHG5):c.2537C>A (p.Ser846Tyr)
|
rs1180411078
|
|
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser)
|
rs1390984037
|
|
NM_020631.6(PLEKHG5):c.2652G>T (p.Gln884His)
|
|
|
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.2672C>T (p.Thr891Ile)
|
rs2148575479
|
|
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly)
|
rs1247695536
|
|
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys)
|
rs1644446616
|
|
NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu)
|
rs910647086
|
|
NM_020631.6(PLEKHG5):c.2751G>C (p.Gln917His)
|
|
|
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.2827G>A (p.Gly943Ser)
|
rs114619322
|
|
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.2887G>T (p.Gly963Trp)
|
rs780100460
|
|
NM_020631.6(PLEKHG5):c.2888G>A (p.Gly963Glu)
|
rs2148574527
|
|
NM_020631.6(PLEKHG5):c.2893_2915del (p.Ser965fs)
|
|
|
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe)
|
rs1337483830
|
|
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.2924G>A (p.Gly975Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2944A>G (p.Lys982Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2956G>A (p.Ala986Thr)
|
|
|
NM_020631.6(PLEKHG5):c.2972T>C (p.Ile991Thr)
|
|
|
NM_020631.6(PLEKHG5):c.2975G>A (p.Arg992Lys)
|
rs750720112
|
|
NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro)
|
rs2148574076
|
|
NM_020631.6(PLEKHG5):c.2T>C (p.Met1Thr)
|
|
|
NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val)
|
|
|
NM_020631.6(PLEKHG5):c.3011+6T>C
|
rs1569827097
|
|
NM_020631.6(PLEKHG5):c.3012-17_3012-6del
|
rs774593947
|
|
NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)
|
|
|
NM_020631.6(PLEKHG5):c.302+6G>A
|
rs1553175409
|
|
NM_020631.6(PLEKHG5):c.307G>T (p.Val103Leu)
|
rs141032388
|
|
NM_020631.6(PLEKHG5):c.341C>T (p.Ala114Val)
|
|
|
NM_020631.6(PLEKHG5):c.34C>T (p.Pro12Ser)
|
rs140687324
|
|
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn)
|
rs759645488
|
|
NM_020631.6(PLEKHG5):c.379A>G (p.Thr127Ala)
|
rs2148591381
|
|
NM_020631.6(PLEKHG5):c.38C>T (p.Pro13Leu)
|
rs776271244
|
|
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.431G>A (p.Arg144His)
|
rs150152888
|
|
NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu)
|
rs150152888
|
|
NM_020631.6(PLEKHG5):c.454G>A (p.Gly152Arg)
|
|
|
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.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.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.535C>T (p.Pro179Ser)
|
rs1644682762
|
|
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.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.583G>A (p.Asp195Asn)
|
|
|
NM_020631.6(PLEKHG5):c.586A>G (p.Ile196Val)
|
rs1159602956
|
|
NM_020631.6(PLEKHG5):c.59G>A (p.Arg20Gln)
|
rs1259066437
|
|
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.665C>A (p.Thr222Lys)
|
rs373678202
|
|
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.784G>A (p.Ala262Thr)
|
rs550362834
|
|
NM_020631.6(PLEKHG5):c.794G>A (p.Arg265Gln)
|
rs1280977628
|
|
NM_020631.6(PLEKHG5):c.80G>A (p.Cys27Tyr)
|
rs1569889912
|
|
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln)
|
rs1644646685
|
|
NM_020631.6(PLEKHG5):c.845T>A (p.Leu282His)
|
rs2148588292
|
|
NM_020631.6(PLEKHG5):c.869G>A (p.Arg290Gln)
|
|
|
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.909_911del (p.Asp304del)
|
rs2148588099
|
|
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.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.951G>C (p.Glu317Asp)
|
rs767511293
|
|
NM_020631.6(PLEKHG5):c.967C>A (p.Leu323Ile)
|
rs1275790736
|
|
NM_020631.6(PLEKHG5):c.984+3G>A
|
rs1282919159
|
|
NM_020631.6(PLEKHG5):c.985-6C>G
|
rs1371350296
|
|
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp)
|
rs148232621
|
|
NM_021815.5(SLC5A7):c.1012G>T (p.Gly338Cys)
|
rs2104379258
|
|
NM_021815.5(SLC5A7):c.1027G>A (p.Ala343Thr)
|
rs140481686
|
|
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.1096C>A (p.Leu366Ile)
|
rs2104379560
|
|
NM_021815.5(SLC5A7):c.10C>G (p.His4Asp)
|
rs1206415590
|
|
NM_021815.5(SLC5A7):c.1114-10T>C
|
|
|
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.117C>A (p.Ser39Arg)
|
|
|
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.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.1262T>C (p.Leu421Pro)
|
rs2104383027
|
|
NM_021815.5(SLC5A7):c.1274T>C (p.Leu425Pro)
|
rs2104383051
|
|
NM_021815.5(SLC5A7):c.1286G>A (p.Gly429Glu)
|
|
|
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.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.1357T>C (p.Tyr453His)
|
rs1678278823
|
|
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.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.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.1498T>C (p.Tyr500His)
|
|
|
NM_021815.5(SLC5A7):c.1500T>A (p.Tyr500Ter)
|
|
|
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.1543G>C (p.Asp515His)
|
|
|
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.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.1610T>C (p.Ile537Thr)
|
rs1157492588
|
|
NM_021815.5(SLC5A7):c.1637A>G (p.Lys546Arg)
|
|
|
NM_021815.5(SLC5A7):c.1649G>A (p.Ser550Asn)
|
|
|
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.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.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+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.194G>A (p.Gly65Glu)
|
rs886039765
|
|
NM_021815.5(SLC5A7):c.19G>C (p.Gly7Arg)
|
rs753442687
|
|
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.292+1G>A
|
rs1677478183
|
|
NM_021815.5(SLC5A7):c.292+5G>C
|
|
|
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser)
|
rs886039766
|
|
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
|
|
|
NM_021815.5(SLC5A7):c.364dup (p.Tyr122fs)
|
rs2104342591
|
|
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.401C>T (p.Ala134Val)
|
|
|
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.42C>A (p.Phe14Leu)
|
rs1558857378
|
|
NM_021815.5(SLC5A7):c.448+6G>A
|
|
|
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.529C>A (p.Leu177Met)
|
rs2104354340
|
|
NM_021815.5(SLC5A7):c.532G>A (p.Val178Met)
|
|
|
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.598-12T>C
|
|
|
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.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.742-3C>T
|
rs995989817
|
|
NM_021815.5(SLC5A7):c.742A>T (p.Met248Leu)
|
|
|
NM_021815.5(SLC5A7):c.74C>T (p.Ala25Val)
|
rs2104332660
|
|
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.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.895+1G>C
|
rs1678115852
|
|
NM_021815.5(SLC5A7):c.895+4A>G
|
|
|
NM_021815.5(SLC5A7):c.8T>C (p.Phe3Ser)
|
|
|
NM_021815.5(SLC5A7):c.919C>T (p.Leu307Phe)
|
|
|
NM_021815.5(SLC5A7):c.931A>C (p.Lys311Gln)
|
rs1307429820
|
|
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.964A>G (p.Ile322Val)
|
|
|
NM_205836.3(FBXO38):c.1073T>A (p.Val358Glu)
|
|
|
NM_205836.3(FBXO38):c.1093+2T>A
|
rs1554079701
|
|
NM_205836.3(FBXO38):c.1096A>C (p.Arg366=)
|
|
|
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.1190A>G (p.Glu397Gly)
|
|
|
NM_205836.3(FBXO38):c.1202G>C (p.Cys401Ser)
|
|
|
NM_205836.3(FBXO38):c.1208A>G (p.Lys403Arg)
|
|
|
NM_205836.3(FBXO38):c.1219A>G (p.Ile407Val)
|
|
|
NM_205836.3(FBXO38):c.1253A>G (p.Asn418Ser)
|
|
|
NM_205836.3(FBXO38):c.1258A>G (p.Ile420Val)
|
rs1752930598
|
|
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+6A>G
|
|
|
NM_205836.3(FBXO38):c.1283G>A (p.Arg428Gln)
|
|
|
NM_205836.3(FBXO38):c.1284A>G (p.Arg428=)
|
rs138223855
|
|
NM_205836.3(FBXO38):c.1307G>A (p.Arg436Gln)
|
|
|
NM_205836.3(FBXO38):c.1310G>T (p.Cys437Phe)
|
rs1554080351
|
|
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.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.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.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.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.1576C>T (p.Arg526Trp)
|
|
|
NM_205836.3(FBXO38):c.157A>T (p.Met53Leu)
|
|
|
NM_205836.3(FBXO38):c.1617C>T (p.Asp539=)
|
|
|
NM_205836.3(FBXO38):c.1642G>A (p.Val548Ile)
|
rs751449877
|
|
NM_205836.3(FBXO38):c.1663G>A (p.Val555Met)
|
rs1012140873
|
|
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.1720G>T (p.Val574Phe)
|
|
|
NM_205836.3(FBXO38):c.172C>T (p.Arg58Trp)
|
|
|
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.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.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.188C>T (p.Ala63Val)
|
rs2113521830
|
|
NM_205836.3(FBXO38):c.1914G>C (p.Leu638Phe)
|
|
|
NM_205836.3(FBXO38):c.1918+3G>A
|
rs758236031
|
|
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.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.1989T>G (p.Phe663Leu)
|
|
|
NM_205836.3(FBXO38):c.1991C>T (p.Pro664Leu)
|
|
|
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.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.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.2164T>C (p.Ser722Pro)
|
|
|
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.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.2275G>A (p.Asp759Asn)
|
rs1300558545
|
|
NM_205836.3(FBXO38):c.22G>A (p.Val8Met)
|
|
|
NM_205836.3(FBXO38):c.2326T>C (p.Cys776Arg)
|
rs1400525129
|
|
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.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.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.247G>A (p.Glu83Lys)
|
|
|
NM_205836.3(FBXO38):c.261T>A (p.Ser87Arg)
|
|
|
NM_205836.3(FBXO38):c.2671C>T (p.Pro891Ser)
|
|
|
NM_205836.3(FBXO38):c.2684T>C (p.Met895Thr)
|
|
|
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.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+3A>G
|
|
|
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.2978T>C (p.Met993Thr)
|
|
|
NM_205836.3(FBXO38):c.2981C>T (p.Pro994Leu)
|
|
|
NM_205836.3(FBXO38):c.2993A>G (p.Asn998Ser)
|
rs1293617168
|
|
NM_205836.3(FBXO38):c.3001A>G (p.Ile1001Val)
|
|
|
NM_205836.3(FBXO38):c.3024+6G>A
|
rs146510581
|
|
NM_205836.3(FBXO38):c.3032C>T (p.Thr1011Ile)
|
|
|
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.3185A>G (p.Tyr1062Cys)
|
|
|
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.3265A>C (p.Thr1089Pro)
|
rs1049321456
|
|
NM_205836.3(FBXO38):c.326G>A (p.Gly109Asp)
|
rs2113531978
|
|
NM_205836.3(FBXO38):c.3274+4A>T
|
|
|
NM_205836.3(FBXO38):c.3284A>T (p.Asp1095Val)
|
|
|
NM_205836.3(FBXO38):c.3335G>A (p.Arg1112Gln)
|
|
|
NM_205836.3(FBXO38):c.3354C>G (p.Ser1118Arg)
|
rs147580008
|
|
NM_205836.3(FBXO38):c.3367G>A (p.Asp1123Asn)
|
|
|
NM_205836.3(FBXO38):c.337C>T (p.Arg113Ter)
|
rs1306910725
|
|
NM_205836.3(FBXO38):c.3383A>G (p.Glu1128Gly)
|
|
|
NM_205836.3(FBXO38):c.3387A>C (p.Glu1129Asp)
|
|
|
NM_205836.3(FBXO38):c.3392C>G (p.Thr1131Ser)
|
|
|
NM_205836.3(FBXO38):c.341A>G (p.Tyr114Cys)
|
rs1433144114
|
|
NM_205836.3(FBXO38):c.3433A>T (p.Ile1145Phe)
|
|
|
NM_205836.3(FBXO38):c.3446C>T (p.Thr1149Ile)
|
rs2113673143
|
|
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.3547G>C (p.Val1183Leu)
|
|
|
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.405G>T (p.Leu135Phe)
|
|
|
NM_205836.3(FBXO38):c.448G>A (p.Glu150Lys)
|
|
|
NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter)
|
|
|
NM_205836.3(FBXO38):c.474T>A (p.Tyr158Ter)
|
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.560T>C (p.Ile187Thr)
|
rs1470214468
|
|
NM_205836.3(FBXO38):c.592+3G>A
|
|
|
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.712G>C (p.Val238Leu)
|
rs144890577
|
|
NM_205836.3(FBXO38):c.71A>G (p.Asp24Gly)
|
|
|
NM_205836.3(FBXO38):c.736A>T (p.Thr246Ser)
|
|
|
NM_205836.3(FBXO38):c.767C>T (p.Thr256Ile)
|
|
|
NM_205836.3(FBXO38):c.771C>T (p.Gly257=)
|
rs1581244170
|
|
NM_205836.3(FBXO38):c.814G>A (p.Val272Ile)
|
|
|
NM_205836.3(FBXO38):c.856A>G (p.Ser286Gly)
|
|
|
NM_205836.3(FBXO38):c.869G>A (p.Gly290Asp)
|
|
|
NM_205836.3(FBXO38):c.880A>T (p.Asn294Tyr)
|
rs1752601349
|
|
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.976C>T (p.Arg326Trp)
|
rs763613189
|
|
NM_205836.3(FBXO38):c.981C>G (p.Ile327Met)
|
|
|
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.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.161G>A (p.Gly54Glu)
|
|
|
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)
|
|
|
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.200G>A (p.Ser67Asn)
|
rs1926926045
|
|
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val)
|
rs1926925550
|
|
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.221G>A (p.Ser74Asn)
|
|
|
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu)
|
rs767069606
|
|
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.250G>C (p.Ala84Pro)
|
|
|
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
|
|
|
NM_213720.3(CHCHD10):c.261+11_261+12delinsGC
|
|
|
NM_213720.3(CHCHD10):c.262-11T>A
|
|
|
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.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.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.359C>T (p.Ser120Phe)
|
|
|
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.41+9G>A
|
|
|
NM_213720.3(CHCHD10):c.410-3C>G
|
|
|
NM_213720.3(CHCHD10):c.410-3C>T
|
rs767630947
|
|
NM_213720.3(CHCHD10):c.42-6C>G
|
|
|
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.55C>T (p.Pro19Ser)
|
rs1926950297
|
|
NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
|
|
|
NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser)
|
rs917149626
|
|
NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
|
|
|
NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
|
|
|
NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro)
|
rs766426370
|
|
NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
|
|
|
NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)
|
|
|
Single allele
|
|
|