NM_014014.5(SNRNP200):c.5755-20A>G
|
rs3214063
|
0.31866
|
NM_014014.5(SNRNP200):c.3550T>C (p.Leu1184=)
|
rs3171927
|
0.22368
|
NM_014014.5(SNRNP200):c.5386C>T (p.Leu1796=)
|
rs34435094
|
0.02646
|
NM_014014.5(SNRNP200):c.2422-8C>T
|
rs79583389
|
0.02643
|
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=)
|
rs72825880
|
0.01765
|
NM_014014.5(SNRNP200):c.210-11A>T
|
rs113877776
|
0.00739
|
NM_014014.5(SNRNP200):c.5933G>C (p.Gly1978Ala)
|
rs75956769
|
0.00593
|
NM_014014.5(SNRNP200):c.3876G>A (p.Pro1292=)
|
rs115923152
|
0.00475
|
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val)
|
rs142729495
|
0.00369
|
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=)
|
rs3214060
|
0.00353
|
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)
|
rs143898031
|
0.00328
|
NM_014014.5(SNRNP200):c.5664C>T (p.His1888=)
|
rs139731897
|
0.00289
|
NM_014014.5(SNRNP200):c.5418C>T (p.Asp1806=)
|
rs72937669
|
0.00267
|
NM_014014.5(SNRNP200):c.4584+18C>T
|
rs371650935
|
0.00205
|
NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=)
|
rs151063400
|
0.00165
|
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=)
|
rs147427344
|
0.00133
|
NM_014014.5(SNRNP200):c.2310+19G>A
|
rs186052281
|
0.00117
|
NM_014014.5(SNRNP200):c.4003+17C>G
|
rs374466738
|
0.00109
|
NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser)
|
rs143529458
|
0.00093
|
NM_014014.5(SNRNP200):c.273G>A (p.Ser91=)
|
rs115907254
|
0.00073
|
NM_014014.5(SNRNP200):c.1854T>C (p.His618=)
|
rs147622706
|
0.00056
|
NM_014014.5(SNRNP200):c.4165-6C>T
|
rs372471318
|
0.00054
|
NM_014014.5(SNRNP200):c.4935G>A (p.Val1645=)
|
rs375650263
|
0.00051
|
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=)
|
rs61753580
|
0.00047
|
NM_014014.5(SNRNP200):c.574+9G>A
|
rs145559167
|
0.00045
|
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala)
|
rs149616320
|
0.00042
|
NM_014014.5(SNRNP200):c.982+10T>C
|
rs371450437
|
0.00040
|
NM_014014.5(SNRNP200):c.3640-15T>C
|
rs200824314
|
0.00036
|
NM_014014.5(SNRNP200):c.1794C>A (p.Arg598=)
|
rs145902532
|
0.00030
|
NM_014014.5(SNRNP200):c.730-3T>C
|
rs201063937
|
0.00029
|
NM_014014.5(SNRNP200):c.5488+19C>T
|
rs370095598
|
0.00028
|
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly)
|
rs766856664
|
0.00028
|
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=)
|
rs375734152
|
0.00026
|
NM_014014.5(SNRNP200):c.5433G>A (p.Ala1811=)
|
rs373776002
|
0.00025
|
NM_014014.5(SNRNP200):c.578A>G (p.Asp193Gly)
|
rs144423660
|
0.00024
|
NM_014014.5(SNRNP200):c.2665A>G (p.Ile889Val)
|
rs140087655
|
0.00023
|
NM_014014.5(SNRNP200):c.46-7T>C
|
rs373701482
|
0.00022
|
NM_014014.5(SNRNP200):c.3924C>T (p.Pro1308=)
|
rs765746512
|
0.00020
|
NM_014014.5(SNRNP200):c.1484C>T (p.Thr495Met)
|
rs139286118
|
0.00019
|
NM_014014.5(SNRNP200):c.2122G>A (p.Val708Ile)
|
rs191245006
|
0.00019
|
NM_014014.5(SNRNP200):c.4678A>G (p.Ile1560Val)
|
rs78715863
|
0.00018
|
NM_014014.5(SNRNP200):c.4029C>T (p.Asp1343=)
|
rs145242546
|
0.00017
|
NM_014014.5(SNRNP200):c.1120-8C>T
|
rs776433081
|
0.00016
|
NM_014014.5(SNRNP200):c.1203+9C>T
|
rs753985092
|
0.00016
|
NM_014014.5(SNRNP200):c.336C>A (p.Thr112=)
|
rs143313285
|
0.00016
|
NM_014014.5(SNRNP200):c.3829+11C>T
|
rs368061827
|
0.00016
|
NM_014014.5(SNRNP200):c.390T>C (p.Asp130=)
|
rs138291954
|
0.00016
|
NM_014014.5(SNRNP200):c.4561G>A (p.Val1521Ile)
|
rs191776366
|
0.00016
|
NM_014014.5(SNRNP200):c.4779C>T (p.Thr1593=)
|
rs145767009
|
0.00016
|
NM_014014.5(SNRNP200):c.5022C>T (p.His1674=)
|
rs139015042
|
0.00016
|
NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=)
|
rs139137932
|
0.00016
|
NM_014014.5(SNRNP200):c.3735C>T (p.Tyr1245=)
|
rs376498861
|
0.00015
|
NM_014014.5(SNRNP200):c.4692G>A (p.Pro1564=)
|
rs374509160
|
0.00015
|
NM_014014.5(SNRNP200):c.5538C>T (p.Ile1846=)
|
rs201513678
|
0.00015
|
NM_014014.5(SNRNP200):c.1770C>T (p.Pro590=)
|
rs767156266
|
0.00014
|
NM_014014.5(SNRNP200):c.4393-10C>T
|
rs372636600
|
0.00014
|
NM_014014.5(SNRNP200):c.45+8T>C
|
rs757020773
|
0.00014
|
NM_014014.5(SNRNP200):c.4056G>A (p.Thr1352=)
|
rs758645617
|
0.00011
|
NM_014014.5(SNRNP200):c.423T>C (p.Ala141=)
|
rs140702204
|
0.00011
|
NM_014014.5(SNRNP200):c.574+11G>A
|
rs772071869
|
0.00011
|
NM_014014.5(SNRNP200):c.6295A>G (p.Thr2099Ala)
|
rs140574531
|
0.00011
|
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys)
|
rs367922991
|
0.00010
|
NM_014014.5(SNRNP200):c.2984A>G (p.Asn995Ser)
|
rs143494993
|
0.00010
|
NM_014014.5(SNRNP200):c.4165-9G>A
|
rs376605359
|
0.00010
|
NM_014014.5(SNRNP200):c.4764-3C>A
|
rs139290587
|
0.00010
|
NM_014014.5(SNRNP200):c.87C>T (p.Asp29=)
|
rs140629902
|
0.00010
|
NM_014014.5(SNRNP200):c.1377+8A>G
|
rs368074667
|
0.00009
|
NM_014014.5(SNRNP200):c.3130G>T (p.Val1044Leu)
|
rs755983089
|
0.00009
|
NM_014014.5(SNRNP200):c.46-17T>C
|
rs777571715
|
0.00009
|
NM_014014.5(SNRNP200):c.4915+15G>A
|
rs766185839
|
0.00009
|
NM_014014.5(SNRNP200):c.5928C>T (p.Asp1976=)
|
rs375605079
|
0.00009
|
NM_014014.5(SNRNP200):c.6267+7G>A
|
rs748455344
|
0.00009
|
NM_014014.5(SNRNP200):c.696C>T (p.Asp232=)
|
rs144761908
|
0.00009
|
NM_014014.5(SNRNP200):c.90G>C (p.Arg30=)
|
rs374762800
|
0.00009
|
NM_014014.5(SNRNP200):c.1686T>C (p.Tyr562=)
|
rs368278928
|
0.00008
|
NM_014014.5(SNRNP200):c.2941-6C>G
|
rs761993023
|
0.00008
|
NM_014014.5(SNRNP200):c.51G>T (p.Ser17=)
|
rs139172908
|
0.00008
|
NM_014014.5(SNRNP200):c.5432C>T (p.Ala1811Val)
|
rs199511035
|
0.00008
|
NM_014014.5(SNRNP200):c.5796C>T (p.Ser1932=)
|
rs898627841
|
0.00008
|
NM_014014.5(SNRNP200):c.6093-6C>T
|
rs202243080
|
0.00008
|
NM_014014.5(SNRNP200):c.2743-4G>A
|
rs374729024
|
0.00007
|
NM_014014.5(SNRNP200):c.2857C>A (p.Arg953=)
|
rs150917167
|
0.00007
|
NM_014014.5(SNRNP200):c.4233G>A (p.Glu1411=)
|
rs772364991
|
0.00007
|
NM_014014.5(SNRNP200):c.4527C>T (p.Thr1509=)
|
rs138123740
|
0.00007
|
NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln)
|
rs200426430
|
0.00007
|
NM_014014.5(SNRNP200):c.5488+9C>T
|
rs200122357
|
0.00007
|
NM_014014.5(SNRNP200):c.730-14G>C
|
rs369853128
|
0.00007
|
NM_014014.5(SNRNP200):c.1485G>A (p.Thr495=)
|
rs142142479
|
0.00006
|
NM_014014.5(SNRNP200):c.2940+4C>T
|
rs573616084
|
0.00006
|
NM_014014.5(SNRNP200):c.3175-5T>C
|
rs567851665
|
0.00006
|
NM_014014.5(SNRNP200):c.3355G>A (p.Asp1119Asn)
|
rs756195450
|
0.00006
|
NM_014014.5(SNRNP200):c.3690C>T (p.Ser1230=)
|
rs200634658
|
0.00006
|
NM_014014.5(SNRNP200):c.3948C>T (p.Ala1316=)
|
rs774090560
|
0.00006
|
NM_014014.5(SNRNP200):c.4346A>G (p.Asn1449Ser)
|
rs575003767
|
0.00006
|
NM_014014.5(SNRNP200):c.4393-12C>T
|
rs375678842
|
0.00006
|
NM_014014.5(SNRNP200):c.4585-6C>T
|
rs766199107
|
0.00006
|
NM_014014.5(SNRNP200):c.4764-7C>T
|
rs373115088
|
0.00006
|
NM_014014.5(SNRNP200):c.5932-19G>A
|
rs751773374
|
0.00006
|
NM_014014.5(SNRNP200):c.983-7T>C
|
rs778082108
|
0.00006
|
NM_014014.5(SNRNP200):c.1098C>T (p.Thr366=)
|
rs774935614
|
0.00005
|
NM_014014.5(SNRNP200):c.1713G>A (p.Gly571=)
|
rs375042708
|
0.00005
|
NM_014014.5(SNRNP200):c.2062A>G (p.Thr688Ala)
|
rs767673801
|
0.00005
|
NM_014014.5(SNRNP200):c.3078C>T (p.Asn1026=)
|
rs146778360
|
0.00005
|
NM_014014.5(SNRNP200):c.4164+12C>T
|
rs188562252
|
0.00005
|
NM_014014.5(SNRNP200):c.4164+7C>T
|
rs768889200
|
0.00005
|
NM_014014.5(SNRNP200):c.4165-5G>A
|
rs190395367
|
0.00005
|
NM_014014.5(SNRNP200):c.4230C>T (p.Gly1410=)
|
rs747476940
|
0.00005
|
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr)
|
rs199736893
|
0.00005
|
NM_014014.5(SNRNP200):c.4966G>A (p.Val1656Met)
|
rs142585893
|
0.00005
|
NM_014014.5(SNRNP200):c.5457C>T (p.Ala1819=)
|
rs148995951
|
0.00005
|
NM_014014.5(SNRNP200):c.5778C>T (p.Cys1926=)
|
rs772906068
|
0.00005
|
NM_014014.5(SNRNP200):c.6333C>T (p.Asp2111=)
|
rs910941080
|
0.00005
|
NM_014014.5(SNRNP200):c.6408T>C (p.Asp2136=)
|
rs146414107
|
0.00005
|
NM_014014.5(SNRNP200):c.1147C>T (p.Arg383Cys)
|
rs142216052
|
0.00004
|
NM_014014.5(SNRNP200):c.1257G>T (p.Gly419=)
|
rs543940274
|
0.00004
|
NM_014014.5(SNRNP200):c.1516-16C>T
|
rs992270395
|
0.00004
|
NM_014014.5(SNRNP200):c.1581G>A (p.Met527Ile)
|
rs148170370
|
0.00004
|
NM_014014.5(SNRNP200):c.1843-4G>A
|
rs552215538
|
0.00004
|
NM_014014.5(SNRNP200):c.2005C>T (p.Pro669Ser)
|
rs749791210
|
0.00004
|
NM_014014.5(SNRNP200):c.2160+8C>T
|
rs534022491
|
0.00004
|
NM_014014.5(SNRNP200):c.2409T>C (p.Asp803=)
|
rs758217813
|
0.00004
|
NM_014014.5(SNRNP200):c.2568C>T (p.Ala856=)
|
rs373434452
|
0.00004
|
NM_014014.5(SNRNP200):c.2716G>A (p.Val906Met)
|
rs769979612
|
0.00004
|
NM_014014.5(SNRNP200):c.2743-7C>A
|
rs367692582
|
0.00004
|
NM_014014.5(SNRNP200):c.3099G>A (p.Glu1033=)
|
rs375398775
|
0.00004
|
NM_014014.5(SNRNP200):c.3258+9G>A
|
rs761162062
|
0.00004
|
NM_014014.5(SNRNP200):c.4034A>G (p.Asn1345Ser)
|
rs566448118
|
0.00004
|
NM_014014.5(SNRNP200):c.4071T>G (p.Thr1357=)
|
rs756585483
|
0.00004
|
NM_014014.5(SNRNP200):c.4376T>C (p.Ile1459Thr)
|
rs773661118
|
0.00004
|
NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=)
|
rs191438128
|
0.00004
|
NM_014014.5(SNRNP200):c.4386G>A (p.Glu1462=)
|
rs748118524
|
0.00004
|
NM_014014.5(SNRNP200):c.45+12C>G
|
rs746654738
|
0.00004
|
NM_014014.5(SNRNP200):c.4560C>T (p.Pro1520=)
|
rs375032361
|
0.00004
|
NM_014014.5(SNRNP200):c.4585-4C>T
|
rs370088514
|
0.00004
|
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=)
|
rs377641548
|
0.00004
|
NM_014014.5(SNRNP200):c.5488+10G>A
|
rs200072234
|
0.00004
|
NM_014014.5(SNRNP200):c.5652C>T (p.Phe1884=)
|
rs777284447
|
0.00004
|
NM_014014.5(SNRNP200):c.574+8C>T
|
rs373318771
|
0.00004
|
NM_014014.5(SNRNP200):c.5931+7C>T
|
rs368161390
|
0.00004
|
NM_014014.5(SNRNP200):c.6096C>T (p.Gly2032=)
|
rs377631478
|
0.00004
|
NM_014014.5(SNRNP200):c.6267+5G>A
|
rs551161869
|
0.00004
|
NM_014014.5(SNRNP200):c.651C>T (p.Tyr217=)
|
rs147219591
|
0.00004
|
NM_014014.5(SNRNP200):c.1180A>G (p.Met394Val)
|
rs529119181
|
0.00003
|
NM_014014.5(SNRNP200):c.1188C>T (p.Leu396=)
|
rs781508595
|
0.00003
|
NM_014014.5(SNRNP200):c.1561A>G (p.Ile521Val)
|
rs1420364663
|
0.00003
|
NM_014014.5(SNRNP200):c.1671+19C>A
|
rs202035167
|
0.00003
|
NM_014014.5(SNRNP200):c.1833C>T (p.Leu611=)
|
rs540997053
|
0.00003
|
NM_014014.5(SNRNP200):c.209+15G>A
|
rs747801470
|
0.00003
|
NM_014014.5(SNRNP200):c.210-8T>G
|
rs950646900
|
0.00003
|
NM_014014.5(SNRNP200):c.2350A>G (p.Ile784Val)
|
rs1469478286
|
0.00003
|
NM_014014.5(SNRNP200):c.2646C>T (p.Leu882=)
|
rs776724799
|
0.00003
|
NM_014014.5(SNRNP200):c.2748G>A (p.Ala916=)
|
rs771250461
|
0.00003
|
NM_014014.5(SNRNP200):c.3094-8T>C
|
rs771828060
|
0.00003
|
NM_014014.5(SNRNP200):c.3273G>A (p.Leu1091=)
|
rs752311716
|
0.00003
|
NM_014014.5(SNRNP200):c.4062C>T (p.Ser1354=)
|
rs749837218
|
0.00003
|
NM_014014.5(SNRNP200):c.4270A>G (p.Ile1424Val)
|
rs748961599
|
0.00003
|
NM_014014.5(SNRNP200):c.4332C>T (p.Asn1444=)
|
rs763990492
|
0.00003
|
NM_014014.5(SNRNP200):c.4461T>C (p.Ile1487=)
|
rs149279321
|
0.00003
|
NM_014014.5(SNRNP200):c.4479G>A (p.Ser1493=)
|
rs199683761
|
0.00003
|
NM_014014.5(SNRNP200):c.45G>T (p.Ala15=)
|
rs780417175
|
0.00003
|
NM_014014.5(SNRNP200):c.4764-20C>T
|
rs779531976
|
0.00003
|
NM_014014.5(SNRNP200):c.4823C>T (p.Thr1608Met)
|
rs770562614
|
0.00003
|
NM_014014.5(SNRNP200):c.4987A>G (p.Ile1663Val)
|
rs372940792
|
0.00003
|
NM_014014.5(SNRNP200):c.5552A>G (p.Asn1851Ser)
|
rs779444178
|
0.00003
|
NM_014014.5(SNRNP200):c.5565T>C (p.Tyr1855=)
|
rs755260931
|
0.00003
|
NM_014014.5(SNRNP200):c.5745C>A (p.Ile1915=)
|
rs749740415
|
0.00003
|
NM_014014.5(SNRNP200):c.6092+5G>C
|
rs1430890315
|
0.00003
|
NM_014014.5(SNRNP200):c.1221G>T (p.Gln407His)
|
rs1215328247
|
0.00002
|
NM_014014.5(SNRNP200):c.1468C>T (p.Arg490Cys)
|
rs761238930
|
0.00002
|
NM_014014.5(SNRNP200):c.1672-9C>T
|
rs1190193612
|
0.00002
|
NM_014014.5(SNRNP200):c.1842+19T>C
|
rs760087834
|
0.00002
|
NM_014014.5(SNRNP200):c.1936G>A (p.Val646Ile)
|
rs752205917
|
0.00002
|
NM_014014.5(SNRNP200):c.2066A>T (p.Tyr689Phe)
|
rs556400279
|
0.00002
|
NM_014014.5(SNRNP200):c.210-10T>C
|
rs769774837
|
0.00002
|
NM_014014.5(SNRNP200):c.2311-17G>A
|
rs780274826
|
0.00002
|
NM_014014.5(SNRNP200):c.2314C>T (p.Leu772=)
|
rs775315762
|
0.00002
|
NM_014014.5(SNRNP200):c.2519G>A (p.Arg840His)
|
rs756180070
|
0.00002
|
NM_014014.5(SNRNP200):c.2743-18A>G
|
rs751048758
|
0.00002
|
NM_014014.5(SNRNP200):c.2879C>T (p.Ala960Val)
|
rs138686895
|
0.00002
|
NM_014014.5(SNRNP200):c.3444C>T (p.Phe1148=)
|
rs932772874
|
0.00002
|
NM_014014.5(SNRNP200):c.357C>T (p.Phe119=)
|
rs770734069
|
0.00002
|
NM_014014.5(SNRNP200):c.3585C>T (p.Arg1195=)
|
rs765610901
|
0.00002
|
NM_014014.5(SNRNP200):c.3614C>T (p.Thr1205Met)
|
rs376746667
|
0.00002
|
NM_014014.5(SNRNP200):c.382-6C>T
|
rs945963464
|
0.00002
|
NM_014014.5(SNRNP200):c.3889C>G (p.Pro1297Ala)
|
rs371511825
|
0.00002
|
NM_014014.5(SNRNP200):c.46-16G>T
|
rs951620265
|
0.00002
|
NM_014014.5(SNRNP200):c.5023G>A (p.Ala1675Thr)
|
rs765293971
|
0.00002
|
NM_014014.5(SNRNP200):c.5024+10A>G
|
rs369456886
|
0.00002
|
NM_014014.5(SNRNP200):c.5346G>A (p.Ser1782=)
|
rs756239767
|
0.00002
|
NM_014014.5(SNRNP200):c.5404A>G (p.Ile1802Val)
|
rs757783750
|
0.00002
|
NM_014014.5(SNRNP200):c.5427C>T (p.Asp1809=)
|
rs201771661
|
0.00002
|
NM_014014.5(SNRNP200):c.5611-5T>G
|
rs200275054
|
0.00002
|
NM_014014.5(SNRNP200):c.5661G>A (p.Pro1887=)
|
rs191125461
|
0.00002
|
NM_014014.5(SNRNP200):c.5665G>A (p.Val1889Ile)
|
rs200367764
|
0.00002
|
NM_014014.5(SNRNP200):c.574+12C>T
|
rs761734438
|
0.00002
|
NM_014014.5(SNRNP200):c.5754+13T>C
|
rs775726293
|
0.00002
|
NM_014014.5(SNRNP200):c.5763G>C (p.Arg1921=)
|
rs1052791157
|
0.00002
|
NM_014014.5(SNRNP200):c.5943T>C (p.Ser1981=)
|
rs754294342
|
0.00002
|
NM_014014.5(SNRNP200):c.6093-7C>A
|
rs201143866
|
0.00002
|
NM_014014.5(SNRNP200):c.6174+4C>T
|
rs774620973
|
0.00002
|
NM_014014.5(SNRNP200):c.840C>T (p.Ile280=)
|
rs750649684
|
0.00002
|
NM_014014.5(SNRNP200):c.93C>T (p.Thr31=)
|
rs886056468
|
0.00002
|
NM_014014.5(SNRNP200):c.1016G>A (p.Ser339Asn)
|
rs1009361271
|
0.00001
|
NM_014014.5(SNRNP200):c.1082A>C (p.Tyr361Ser)
|
rs762481661
|
0.00001
|
NM_014014.5(SNRNP200):c.1148G>A (p.Arg383His)
|
rs536493402
|
0.00001
|
NM_014014.5(SNRNP200):c.1179C>T (p.Thr393=)
|
rs1467325917
|
0.00001
|
NM_014014.5(SNRNP200):c.1204-4C>T
|
rs746371833
|
0.00001
|
NM_014014.5(SNRNP200):c.1315C>T (p.Arg439Cys)
|
rs199661848
|
0.00001
|
NM_014014.5(SNRNP200):c.1347T>C (p.Ala449=)
|
rs982955047
|
0.00001
|
NM_014014.5(SNRNP200):c.1428G>A (p.Glu476=)
|
rs763948981
|
0.00001
|
NM_014014.5(SNRNP200):c.1436A>G (p.Lys479Arg)
|
rs765401239
|
0.00001
|
NM_014014.5(SNRNP200):c.1445A>G (p.Asn482Ser)
|
rs1444080629
|
0.00001
|
NM_014014.5(SNRNP200):c.1516-13A>G
|
rs1348138604
|
0.00001
|
NM_014014.5(SNRNP200):c.1516-3T>C
|
rs752525238
|
0.00001
|
NM_014014.5(SNRNP200):c.1516-5C>T
|
rs776330357
|
0.00001
|
NM_014014.5(SNRNP200):c.1516-8T>C
|
rs777786109
|
0.00001
|
NM_014014.5(SNRNP200):c.151C>T (p.Arg51Cys)
|
rs761976191
|
0.00001
|
NM_014014.5(SNRNP200):c.1534G>A (p.Val512Met)
|
rs968287365
|
0.00001
|
NM_014014.5(SNRNP200):c.1547G>C (p.Cys516Ser)
|
rs754071380
|
0.00001
|
NM_014014.5(SNRNP200):c.1573A>G (p.Ile525Val)
|
rs768119313
|
0.00001
|
NM_014014.5(SNRNP200):c.1577A>G (p.Asn526Ser)
|
rs1437130482
|
0.00001
|
NM_014014.5(SNRNP200):c.1633C>T (p.Arg545Cys)
|
rs772114265
|
0.00001
|
NM_014014.5(SNRNP200):c.1662C>T (p.Ser554=)
|
rs572113985
|
0.00001
|
NM_014014.5(SNRNP200):c.1675C>T (p.Leu559=)
|
rs1042433547
|
0.00001
|
NM_014014.5(SNRNP200):c.1741A>G (p.Ser581Gly)
|
rs2063911938
|
0.00001
|
NM_014014.5(SNRNP200):c.1783A>G (p.Ile595Val)
|
rs761336347
|
0.00001
|
NM_014014.5(SNRNP200):c.1863C>T (p.His621=)
|
rs532104214
|
0.00001
|
NM_014014.5(SNRNP200):c.1869C>T (p.Asp623=)
|
rs140365889
|
0.00001
|
NM_014014.5(SNRNP200):c.1890T>C (p.Ala630=)
|
rs748219000
|
0.00001
|
NM_014014.5(SNRNP200):c.1902G>A (p.Arg634=)
|
rs200401868
|
0.00001
|
NM_014014.5(SNRNP200):c.1944C>T (p.Leu648=)
|
rs1054220177
|
0.00001
|
NM_014014.5(SNRNP200):c.1996C>T (p.Arg666Cys)
|
rs200546584
|
0.00001
|
NM_014014.5(SNRNP200):c.2040C>T (p.Phe680=)
|
rs974205583
|
0.00001
|
NM_014014.5(SNRNP200):c.209+12G>A
|
rs777083571
|
0.00001
|
NM_014014.5(SNRNP200):c.209+8C>T
|
rs1250035546
|
0.00001
|
NM_014014.5(SNRNP200):c.2099G>A (p.Arg700His)
|
rs905600831
|
0.00001
|
NM_014014.5(SNRNP200):c.2161-4T>C
|
rs1302627833
|
0.00001
|
NM_014014.5(SNRNP200):c.2199G>A (p.Lys733=)
|
rs1190862715
|
0.00001
|
NM_014014.5(SNRNP200):c.2215C>T (p.Arg739Trp)
|
rs780925650
|
0.00001
|
NM_014014.5(SNRNP200):c.2232A>C (p.Glu744Asp)
|
rs751266064
|
0.00001
|
NM_014014.5(SNRNP200):c.2268A>G (p.Ser756=)
|
rs370694903
|
0.00001
|
NM_014014.5(SNRNP200):c.2310+6G>T
|
rs377444617
|
0.00001
|
NM_014014.5(SNRNP200):c.2311-9G>T
|
rs773685067
|
0.00001
|
NM_014014.5(SNRNP200):c.2340T>C (p.Tyr780=)
|
rs1158989221
|
0.00001
|
NM_014014.5(SNRNP200):c.2358C>T (p.His786=)
|
rs904670022
|
0.00001
|
NM_014014.5(SNRNP200):c.2388C>T (p.Leu796=)
|
rs200124876
|
0.00001
|
NM_014014.5(SNRNP200):c.2421+17C>T
|
rs188714908
|
0.00001
|
NM_014014.5(SNRNP200):c.2421+18G>A
|
rs183986099
|
0.00001
|
NM_014014.5(SNRNP200):c.2421+9G>T
|
rs779153869
|
0.00001
|
NM_014014.5(SNRNP200):c.2422-10G>T
|
rs760188260
|
0.00001
|
NM_014014.5(SNRNP200):c.2457G>A (p.Val819=)
|
rs778673233
|
0.00001
|
NM_014014.5(SNRNP200):c.2542G>A (p.Asp848Asn)
|
rs757811344
|
0.00001
|
NM_014014.5(SNRNP200):c.2553+14T>G
|
rs1007655093
|
0.00001
|
NM_014014.5(SNRNP200):c.2553G>A (p.Gln851=)
|
rs1279118725
|
0.00001
|
NM_014014.5(SNRNP200):c.2554-5T>G
|
rs377032938
|
0.00001
|
NM_014014.5(SNRNP200):c.2609T>C (p.Ile870Thr)
|
rs998496340
|
0.00001
|
NM_014014.5(SNRNP200):c.2613A>G (p.Thr871=)
|
rs1164706999
|
0.00001
|
NM_014014.5(SNRNP200):c.2730C>T (p.Val910=)
|
rs1368772370
|
0.00001
|
NM_014014.5(SNRNP200):c.2742+8dup
|
rs758931100
|
0.00001
|
NM_014014.5(SNRNP200):c.2743-3T>C
|
rs759342154
|
0.00001
|
NM_014014.5(SNRNP200):c.2755T>G (p.Trp919Gly)
|
rs1349533903
|
0.00001
|
NM_014014.5(SNRNP200):c.2760G>C (p.Leu920=)
|
rs140118056
|
0.00001
|
NM_014014.5(SNRNP200):c.2777A>G (p.Tyr926Cys)
|
rs1321434513
|
0.00001
|
NM_014014.5(SNRNP200):c.2907G>A (p.Leu969=)
|
rs1380108646
|
0.00001
|
NM_014014.5(SNRNP200):c.2929G>A (p.Gly977Ser)
|
rs1166038313
|
0.00001
|
NM_014014.5(SNRNP200):c.2940+5G>A
|
rs868196932
|
0.00001
|
NM_014014.5(SNRNP200):c.2941-15C>G
|
rs767594352
|
0.00001
|
NM_014014.5(SNRNP200):c.2941-8C>T
|
rs1349037176
|
0.00001
|
NM_014014.5(SNRNP200):c.3093+5G>A
|
rs1368986737
|
0.00001
|
NM_014014.5(SNRNP200):c.3133C>A (p.Pro1045Thr)
|
rs745733409
|
0.00001
|
NM_014014.5(SNRNP200):c.3174+11C>T
|
rs1215917248
|
0.00001
|
NM_014014.5(SNRNP200):c.3175-10T>A
|
rs375857652
|
0.00001
|
NM_014014.5(SNRNP200):c.3181G>A (p.Val1061Ile)
|
rs758609711
|
0.00001
|
NM_014014.5(SNRNP200):c.3195C>T (p.Ala1065=)
|
rs1424382516
|
0.00001
|
NM_014014.5(SNRNP200):c.3241A>G (p.Met1081Val)
|
rs778865816
|
0.00001
|
NM_014014.5(SNRNP200):c.3258+10G>A
|
rs371518449
|
0.00001
|
NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln)
|
rs397514574
|
0.00001
|
NM_014014.5(SNRNP200):c.3278G>A (p.Arg1093Gln)
|
rs759003363
|
0.00001
|
NM_014014.5(SNRNP200):c.3280G>C (p.Ala1094Pro)
|
rs776180845
|
0.00001
|
NM_014014.5(SNRNP200):c.3323C>T (p.Thr1108Ile)
|
rs1247160867
|
0.00001
|
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=)
|
rs376352502
|
0.00001
|
NM_014014.5(SNRNP200):c.3428T>C (p.Ile1143Thr)
|
rs758635979
|
0.00001
|
NM_014014.5(SNRNP200):c.3462C>T (p.Tyr1154=)
|
rs148570522
|
0.00001
|
NM_014014.5(SNRNP200):c.3485-13C>T
|
rs2063849355
|
0.00001
|
NM_014014.5(SNRNP200):c.3485-17C>T
|
rs1418262439
|
0.00001
|
NM_014014.5(SNRNP200):c.3499A>G (p.Met1167Val)
|
rs1274194161
|
0.00001
|
NM_014014.5(SNRNP200):c.351C>G (p.Leu117=)
|
rs533123827
|
0.00001
|
NM_014014.5(SNRNP200):c.354C>T (p.Ser118=)
|
rs1469339354
|
0.00001
|
NM_014014.5(SNRNP200):c.3600G>A (p.Val1200=)
|
rs369512134
|
0.00001
|
NM_014014.5(SNRNP200):c.3640-11C>G
|
rs762313931
|
0.00001
|
NM_014014.5(SNRNP200):c.3642G>A (p.Val1214=)
|
rs769028716
|
0.00001
|
NM_014014.5(SNRNP200):c.3711G>A (p.Glu1237=)
|
rs1457735193
|
0.00001
|
NM_014014.5(SNRNP200):c.3721C>T (p.Leu1241Phe)
|
rs1553440063
|
0.00001
|
NM_014014.5(SNRNP200):c.3744C>T (p.Asp1248=)
|
rs750593383
|
0.00001
|
NM_014014.5(SNRNP200):c.3747G>A (p.Glu1249=)
|
rs1269445488
|
0.00001
|
NM_014014.5(SNRNP200):c.3765C>T (p.Phe1255=)
|
rs764554004
|
0.00001
|
NM_014014.5(SNRNP200):c.3820C>T (p.Arg1274Cys)
|
rs747634123
|
0.00001
|
NM_014014.5(SNRNP200):c.3821G>A (p.Arg1274His)
|
rs779046530
|
0.00001
|
NM_014014.5(SNRNP200):c.3956G>A (p.Ser1319Asn)
|
rs768075127
|
0.00001
|
NM_014014.5(SNRNP200):c.4055C>T (p.Thr1352Met)
|
rs1410347323
|
0.00001
|
NM_014014.5(SNRNP200):c.4080A>T (p.Ala1360=)
|
rs547112938
|
0.00001
|
NM_014014.5(SNRNP200):c.4116G>A (p.Ser1372=)
|
rs144840027
|
0.00001
|
NM_014014.5(SNRNP200):c.4123C>T (p.Arg1375Cys)
|
rs760524917
|
0.00001
|
NM_014014.5(SNRNP200):c.4161G>A (p.Glu1387=)
|
rs774388016
|
0.00001
|
NM_014014.5(SNRNP200):c.4172T>G (p.Met1391Arg)
|
rs794727552
|
0.00001
|
NM_014014.5(SNRNP200):c.4205A>G (p.Asn1402Ser)
|
rs560485569
|
0.00001
|
NM_014014.5(SNRNP200):c.4260C>A (p.Gly1420=)
|
rs201259831
|
0.00001
|
NM_014014.5(SNRNP200):c.4314A>T (p.Arg1438=)
|
rs200779587
|
0.00001
|
NM_014014.5(SNRNP200):c.4353C>T (p.Phe1451=)
|
rs762245805
|
0.00001
|
NM_014014.5(SNRNP200):c.4372C>T (p.Leu1458Phe)
|
rs769389998
|
0.00001
|
NM_014014.5(SNRNP200):c.4392+8G>A
|
rs199527479
|
0.00001
|
NM_014014.5(SNRNP200):c.4393-11C>T
|
rs1164382202
|
0.00001
|
NM_014014.5(SNRNP200):c.4393-7T>C
|
rs774572762
|
0.00001
|
NM_014014.5(SNRNP200):c.441G>A (p.Lys147=)
|
rs146883748
|
0.00001
|
NM_014014.5(SNRNP200):c.4456C>T (p.Arg1486Cys)
|
rs2063825161
|
0.00001
|
NM_014014.5(SNRNP200):c.447G>T (p.Arg149=)
|
rs1429063349
|
0.00001
|
NM_014014.5(SNRNP200):c.4554G>A (p.Val1518=)
|
rs1558765283
|
0.00001
|
NM_014014.5(SNRNP200):c.4566C>G (p.Pro1522=)
|
rs780296362
|
0.00001
|
NM_014014.5(SNRNP200):c.4584+10A>T
|
rs750492291
|
0.00001
|
NM_014014.5(SNRNP200):c.4585-9G>C
|
rs753090914
|
0.00001
|
NM_014014.5(SNRNP200):c.4647T>C (p.Ala1549=)
|
rs761238973
|
0.00001
|
NM_014014.5(SNRNP200):c.4652C>T (p.Thr1551Ile)
|
rs1233295203
|
0.00001
|
NM_014014.5(SNRNP200):c.470T>C (p.Ile157Thr)
|
rs779977034
|
0.00001
|
NM_014014.5(SNRNP200):c.4725C>T (p.Asp1575=)
|
rs753076327
|
0.00001
|
NM_014014.5(SNRNP200):c.4764-6G>A
|
rs767349827
|
0.00001
|
NM_014014.5(SNRNP200):c.4796C>T (p.Pro1599Leu)
|
rs762545526
|
0.00001
|
NM_014014.5(SNRNP200):c.4818C>T (p.Asp1606=)
|
rs573289061
|
0.00001
|
NM_014014.5(SNRNP200):c.4836G>A (p.Thr1612=)
|
rs1428606912
|
0.00001
|
NM_014014.5(SNRNP200):c.4857C>T (p.Tyr1619=)
|
rs779622054
|
0.00001
|
NM_014014.5(SNRNP200):c.4915+14C>T
|
rs150854667
|
0.00001
|
NM_014014.5(SNRNP200):c.4916-16C>T
|
rs774669313
|
0.00001
|
NM_014014.5(SNRNP200):c.4916-9A>G
|
rs746309906
|
0.00001
|
NM_014014.5(SNRNP200):c.4935_4937dup (p.Ala1646dup)
|
rs776679366
|
0.00001
|
NM_014014.5(SNRNP200):c.4981G>T (p.Val1661Leu)
|
rs376199066
|
0.00001
|
NM_014014.5(SNRNP200):c.4988T>C (p.Ile1663Thr)
|
rs145701974
|
0.00001
|
NM_014014.5(SNRNP200):c.5024+8C>T
|
rs777147153
|
0.00001
|
NM_014014.5(SNRNP200):c.519G>A (p.Val173=)
|
rs1466524383
|
0.00001
|
NM_014014.5(SNRNP200):c.5324-10G>A
|
rs774211595
|
0.00001
|
NM_014014.5(SNRNP200):c.5412C>T (p.Ile1804=)
|
rs142524062
|
0.00001
|
NM_014014.5(SNRNP200):c.5413G>A (p.Glu1805Lys)
|
rs1377252379
|
0.00001
|
NM_014014.5(SNRNP200):c.5488+16G>T
|
rs1338874168
|
0.00001
|
NM_014014.5(SNRNP200):c.5489-9T>C
|
rs373999264
|
0.00001
|
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=)
|
rs368225080
|
0.00001
|
NM_014014.5(SNRNP200):c.5660C>T (p.Pro1887Leu)
|
rs752668483
|
0.00001
|
NM_014014.5(SNRNP200):c.5702G>A (p.Arg1901His)
|
rs1237152334
|
0.00001
|
NM_014014.5(SNRNP200):c.574+13T>C
|
rs770509800
|
0.00001
|
NM_014014.5(SNRNP200):c.5762G>A (p.Arg1921Gln)
|
rs1354326901
|
0.00001
|
NM_014014.5(SNRNP200):c.5874A>T (p.Ser1958=)
|
rs780021371
|
0.00001
|
NM_014014.5(SNRNP200):c.5949C>T (p.Phe1983=)
|
rs766769043
|
0.00001
|
NM_014014.5(SNRNP200):c.597C>T (p.Tyr199=)
|
rs771467362
|
0.00001
|
NM_014014.5(SNRNP200):c.5982C>T (p.Asn1994=)
|
rs763796604
|
0.00001
|
NM_014014.5(SNRNP200):c.606T>C (p.Asn202=)
|
rs2063949174
|
0.00001
|
NM_014014.5(SNRNP200):c.6070G>A (p.Val2024Ile)
|
rs376585390
|
0.00001
|
NM_014014.5(SNRNP200):c.6088C>T (p.Arg2030Cys)
|
rs150442718
|
0.00001
|
NM_014014.5(SNRNP200):c.6093-8C>T
|
rs1261759004
|
0.00001
|
NM_014014.5(SNRNP200):c.6097G>A (p.Gly2033Arg)
|
rs752450131
|
0.00001
|
NM_014014.5(SNRNP200):c.6159G>A (p.Ala2053=)
|
rs760684878
|
0.00001
|
NM_014014.5(SNRNP200):c.6171G>A (p.Pro2057=)
|
rs1302937477
|
0.00001
|
NM_014014.5(SNRNP200):c.6174+19C>T
|
rs1320646309
|
0.00001
|
NM_014014.5(SNRNP200):c.6174+5G>A
|
rs552897375
|
0.00001
|
NM_014014.5(SNRNP200):c.6219C>T (p.Ser2073=)
|
rs1285571562
|
0.00001
|
NM_014014.5(SNRNP200):c.6270G>A (p.Val2090=)
|
rs745848012
|
0.00001
|
NM_014014.5(SNRNP200):c.6308A>G (p.Asn2103Ser)
|
rs780795928
|
0.00001
|
NM_014014.5(SNRNP200):c.6309C>T (p.Asn2103=)
|
rs746582158
|
0.00001
|
NM_014014.5(SNRNP200):c.685A>G (p.Met229Val)
|
rs779316946
|
0.00001
|
NM_014014.5(SNRNP200):c.693G>A (p.Gly231=)
|
rs755766218
|
0.00001
|
NM_014014.5(SNRNP200):c.705C>T (p.Val235=)
|
rs148119575
|
0.00001
|
NM_014014.5(SNRNP200):c.737C>T (p.Ala246Val)
|
rs762289712
|
0.00001
|
NM_014014.5(SNRNP200):c.777C>T (p.His259=)
|
rs770745617
|
0.00001
|
NM_014014.5(SNRNP200):c.781C>A (p.Arg261=)
|
rs746654808
|
0.00001
|
NM_014014.5(SNRNP200):c.782G>A (p.Arg261Gln)
|
rs373189421
|
0.00001
|
NM_014014.5(SNRNP200):c.821G>A (p.Arg274His)
|
rs754858849
|
0.00001
|
NM_014014.5(SNRNP200):c.841G>A (p.Val281Met)
|
rs866936431
|
0.00001
|
NM_014014.5(SNRNP200):c.855G>A (p.Lys285=)
|
rs1195377800
|
0.00001
|
NM_014014.5(SNRNP200):c.885G>A (p.Thr295=)
|
rs138992215
|
0.00001
|
NM_014014.5(SNRNP200):c.982+8T>C
|
rs2063933969
|
0.00001
|
NC_000002.11:g.(?_96959198)_(96961039_?)del
|
|
|
NM_014014.5(SNRNP200):c.1005C>T (p.Ala335=)
|
rs2104359096
|
|
NM_014014.5(SNRNP200):c.1009G>A (p.Ala337Thr)
|
rs2104359095
|
|
NM_014014.5(SNRNP200):c.1021G>A (p.Ala341Thr)
|
|
|
NM_014014.5(SNRNP200):c.1040T>G (p.Met347Arg)
|
|
|
NM_014014.5(SNRNP200):c.1052A>G (p.Glu351Gly)
|
|
|
NM_014014.5(SNRNP200):c.1073A>G (p.Lys358Arg)
|
|
|
NM_014014.5(SNRNP200):c.1080C>G (p.Leu360=)
|
rs1470225572
|
|
NM_014014.5(SNRNP200):c.1082A>G (p.Tyr361Cys)
|
|
|
NM_014014.5(SNRNP200):c.1118G>A (p.Arg373Gln)
|
|
|
NM_014014.5(SNRNP200):c.1119+16G>C
|
|
|
NM_014014.5(SNRNP200):c.1119+9T>C
|
|
|
NM_014014.5(SNRNP200):c.1120-17A>T
|
|
|
NM_014014.5(SNRNP200):c.1120-4A>T
|
|
|
NM_014014.5(SNRNP200):c.1120-6C>T
|
|
|
NM_014014.5(SNRNP200):c.1120-7A>T
|
|
|
NM_014014.5(SNRNP200):c.1125A>G (p.Glu375=)
|
rs2104358184
|
|
NM_014014.5(SNRNP200):c.1130C>T (p.Ser377Phe)
|
rs2104358175
|
|
NM_014014.5(SNRNP200):c.1151A>C (p.Gln384Pro)
|
|
|
NM_014014.5(SNRNP200):c.1154C>T (p.Ser385Phe)
|
rs2063925366
|
|
NM_014014.5(SNRNP200):c.1157G>A (p.Arg386Gln)
|
|
|
NM_014014.5(SNRNP200):c.1168G>A (p.Asp390Asn)
|
|
|
NM_014014.5(SNRNP200):c.1184A>G (p.Asp395Gly)
|
|
|
NM_014014.5(SNRNP200):c.1189G>T (p.Asp397Tyr)
|
rs2104358080
|
|
NM_014014.5(SNRNP200):c.1195G>A (p.Gly399Ser)
|
rs2104358068
|
|
NM_014014.5(SNRNP200):c.1196G>A (p.Gly399Asp)
|
|
|
NM_014014.5(SNRNP200):c.1203+10A>G
|
|
|
NM_014014.5(SNRNP200):c.1203+11G>T
|
|
|
NM_014014.5(SNRNP200):c.1203+7T>C
|
rs2104358040
|
|
NM_014014.5(SNRNP200):c.1204G>A (p.Ala402Thr)
|
|
|
NM_014014.5(SNRNP200):c.1216C>T (p.Arg406Trp)
|
|
|
NM_014014.5(SNRNP200):c.1217G>A (p.Arg406Gln)
|
|
|
NM_014014.5(SNRNP200):c.1260C>T (p.Ser420=)
|
rs2104357760
|
|
NM_014014.5(SNRNP200):c.1263C>T (p.His421=)
|
rs2104357758
|
|
NM_014014.5(SNRNP200):c.1266T>C (p.Phe422=)
|
|
|
NM_014014.5(SNRNP200):c.126C>A (p.Ser42=)
|
rs2063976461
|
|
NM_014014.5(SNRNP200):c.1307G>A (p.Arg436His)
|
rs1322412557
|
|
NM_014014.5(SNRNP200):c.1308_1310dup (p.Arg437_Gln438insArg)
|
|
|
NM_014014.5(SNRNP200):c.1309C>T (p.Arg437Cys)
|
|
|
NM_014014.5(SNRNP200):c.1323C>G (p.Gly441=)
|
rs2063923706
|
|
NM_014014.5(SNRNP200):c.1325A>G (p.Tyr442Cys)
|
rs2063923690
|
|
NM_014014.5(SNRNP200):c.1338T>C (p.His446=)
|
|
|
NM_014014.5(SNRNP200):c.1348C>G (p.Leu450Val)
|
|
|
NM_014014.5(SNRNP200):c.135G>A (p.Gly45=)
|
rs2104366994
|
|
NM_014014.5(SNRNP200):c.1361C>T (p.Pro454Leu)
|
|
|
NM_014014.5(SNRNP200):c.1367G>C (p.Gly456Ala)
|
rs774147976
|
|
NM_014014.5(SNRNP200):c.1370C>T (p.Ser457Leu)
|
|
|
NM_014014.5(SNRNP200):c.1376_1377+1del
|
|
|
NM_014014.5(SNRNP200):c.1377+20C>T
|
|
|
NM_014014.5(SNRNP200):c.1378-18G>A
|
|
|
NM_014014.5(SNRNP200):c.1378-3T>C
|
rs543102102
|
|
NM_014014.5(SNRNP200):c.1378-8T>C
|
rs2104357363
|
|
NM_014014.5(SNRNP200):c.1380A>G (p.Gln460=)
|
|
|
NM_014014.5(SNRNP200):c.1390G>C (p.Val464Leu)
|
|
|
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu)
|
rs933842186
|
|
NM_014014.5(SNRNP200):c.1409A>T (p.Tyr470Phe)
|
rs2063921468
|
|
NM_014014.5(SNRNP200):c.1411G>A (p.Ala471Thr)
|
|
|
NM_014014.5(SNRNP200):c.1423T>G (p.Phe475Val)
|
|
|
NM_014014.5(SNRNP200):c.1447C>T (p.Arg483Trp)
|
rs759631586
|
|
NM_014014.5(SNRNP200):c.1448G>A (p.Arg483Gln)
|
|
|
NM_014014.5(SNRNP200):c.144G>A (p.Glu48=)
|
rs2063976324
|
|
NM_014014.5(SNRNP200):c.1458T>C (p.Ser486=)
|
|
|
NM_014014.5(SNRNP200):c.1460A>G (p.Lys487Arg)
|
|
|
NM_014014.5(SNRNP200):c.1462C>G (p.Leu488Val)
|
|
|
NM_014014.5(SNRNP200):c.1462C>T (p.Leu488Phe)
|
rs771467567
|
|
NM_014014.5(SNRNP200):c.1466A>G (p.Tyr489Cys)
|
|
|
NM_014014.5(SNRNP200):c.1469G>A (p.Arg490His)
|
|
|
NM_014014.5(SNRNP200):c.149C>G (p.Thr50Ser)
|
|
|
NM_014014.5(SNRNP200):c.1512T>C (p.Pro504=)
|
rs2104357128
|
|
NM_014014.5(SNRNP200):c.1515+19G>T
|
|
|
NM_014014.5(SNRNP200):c.1516-11C>G
|
|
|
NM_014014.5(SNRNP200):c.1516-12C>A
|
|
|
NM_014014.5(SNRNP200):c.1516-4G>A
|
|
|
NM_014014.5(SNRNP200):c.1516-4G>T
|
rs375828270
|
|
NM_014014.5(SNRNP200):c.1516G>T (p.Gly506Cys)
|
rs1487962974
|
|
NM_014014.5(SNRNP200):c.1519G>A (p.Ala507Thr)
|
|
|
NM_014014.5(SNRNP200):c.1520C>T (p.Ala507Val)
|
|
|
NM_014014.5(SNRNP200):c.1524G>A (p.Gly508=)
|
|
|
NM_014014.5(SNRNP200):c.1532A>C (p.Asn511Thr)
|
rs2063919035
|
|
NM_014014.5(SNRNP200):c.1532A>G (p.Asn511Ser)
|
|
|
NM_014014.5(SNRNP200):c.1533C>G (p.Asn511Lys)
|
|
|
NM_014014.5(SNRNP200):c.1533C>T (p.Asn511=)
|
|
|
NM_014014.5(SNRNP200):c.1538C>T (p.Ala513Val)
|
rs2063918980
|
|
NM_014014.5(SNRNP200):c.1556G>A (p.Arg519Gln)
|
rs750422946
|
|
NM_014014.5(SNRNP200):c.1584C>T (p.Asp528=)
|
|
|
NM_014014.5(SNRNP200):c.1585G>A (p.Gly529Ser)
|
|
|
NM_014014.5(SNRNP200):c.1587C>A (p.Gly529=)
|
rs1264797772
|
|
NM_014014.5(SNRNP200):c.1590C>G (p.Thr530=)
|
|
|
NM_014014.5(SNRNP200):c.1595A>G (p.Asn532Ser)
|
|
|
NM_014014.5(SNRNP200):c.1600G>A (p.Asp534Asn)
|
|
|
NM_014014.5(SNRNP200):c.1602T>C (p.Asp534=)
|
rs2063918554
|
|
NM_014014.5(SNRNP200):c.1616T>A (p.Ile539Asn)
|
rs2104356680
|
|
NM_014014.5(SNRNP200):c.1625C>T (p.Ala542Val)
|
rs2063918440
|
|
NM_014014.5(SNRNP200):c.1627C>G (p.Pro543Ala)
|
rs1057519143
|
|
NM_014014.5(SNRNP200):c.1627C>T (p.Pro543Ser)
|
rs1057519143
|
|
NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His)
|
rs2063918355
|
|
NM_014014.5(SNRNP200):c.1645C>G (p.Gln549Glu)
|
rs2104356633
|
|
NM_014014.5(SNRNP200):c.165G>A (p.Lys55=)
|
rs2104366926
|
|
NM_014014.5(SNRNP200):c.1660A>C (p.Ser554Arg)
|
|
|
NM_014014.5(SNRNP200):c.1662C>G (p.Ser554Arg)
|
rs572113985
|
|
NM_014014.5(SNRNP200):c.1671+18T>C
|
rs55658279
|
|
NM_014014.5(SNRNP200):c.1671+18T>G
|
|
|
NM_014014.5(SNRNP200):c.1671+4A>G
|
rs2063918171
|
|
NM_014014.5(SNRNP200):c.1672C>T (p.Arg558Cys)
|
|
|
NM_014014.5(SNRNP200):c.1673G>A (p.Arg558His)
|
|
|
NM_014014.5(SNRNP200):c.1673G>C (p.Arg558Pro)
|
|
|
NM_014014.5(SNRNP200):c.168T>C (p.Ala56=)
|
|
|
NM_014014.5(SNRNP200):c.1693A>G (p.Thr565Ala)
|
rs2063912153
|
|
NM_014014.5(SNRNP200):c.1708A>G (p.Thr570Ala)
|
rs2104355425
|
|
NM_014014.5(SNRNP200):c.1716CCA[1] (p.His573del)
|
rs2063912076
|
|
NM_014014.5(SNRNP200):c.1718A>C (p.His573Pro)
|
rs2063912093
|
|
NM_014014.5(SNRNP200):c.1731AGA[1] (p.Glu579del)
|
|
|
NM_014014.5(SNRNP200):c.1734A>C (p.Glu578Asp)
|
|
|
NM_014014.5(SNRNP200):c.174G>T (p.Arg58=)
|
rs774343092
|
|
NM_014014.5(SNRNP200):c.1755C>A (p.Ile585=)
|
|
|
NM_014014.5(SNRNP200):c.1758C>T (p.Ile586=)
|
|
|
NM_014014.5(SNRNP200):c.1834A>C (p.Ile612Leu)
|
rs1419842922
|
|
NM_014014.5(SNRNP200):c.1842+10G>A
|
rs2104355215
|
|
NM_014014.5(SNRNP200):c.1842+12G>A
|
|
|
NM_014014.5(SNRNP200):c.1842+17C>T
|
|
|
NM_014014.5(SNRNP200):c.1842+20A>G
|
|
|
NM_014014.5(SNRNP200):c.1843-10A>G
|
rs2104352587
|
|
NM_014014.5(SNRNP200):c.1843-16_1843-15insGTAGGCACTAGCCTTTGTAATGACTA
|
|
|
NM_014014.5(SNRNP200):c.1843-3T>C
|
rs759275511
|
|
NM_014014.5(SNRNP200):c.1851T>C (p.Ile617=)
|
|
|
NM_014014.5(SNRNP200):c.1886A>G (p.Glu629Gly)
|
rs2104352526
|
|
NM_014014.5(SNRNP200):c.1895_1896delinsGC (p.Val632Gly)
|
rs2063896002
|
|
NM_014014.5(SNRNP200):c.1915A>G (p.Ile639Val)
|
|
|
NM_014014.5(SNRNP200):c.1925C>T (p.Thr642Ile)
|
|
|
NM_014014.5(SNRNP200):c.1932G>A (p.Glu644=)
|
rs2104352466
|
|
NM_014014.5(SNRNP200):c.1939C>G (p.Arg647Gly)
|
rs2104352451
|
|
NM_014014.5(SNRNP200):c.1948G>C (p.Gly650Arg)
|
rs2104352439
|
|
NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe)
|
rs2104352435
|
|
NM_014014.5(SNRNP200):c.1981G>C (p.Val661Leu)
|
|
|
NM_014014.5(SNRNP200):c.1989C>T (p.Thr663=)
|
|
|
NM_014014.5(SNRNP200):c.2002G>A (p.Asp668Asn)
|
rs769109429
|
|
NM_014014.5(SNRNP200):c.2004C>G (p.Asp668Glu)
|
|
|
NM_014014.5(SNRNP200):c.2006C>T (p.Pro669Leu)
|
rs1200876900
|
|
NM_014014.5(SNRNP200):c.2036+1del
|
rs2104352342
|
|
NM_014014.5(SNRNP200):c.2037-18dup
|
|
|
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
|
rs959069360
|
|
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)
|
rs527236113
|
|
NM_014014.5(SNRNP200):c.2044C>G (p.Pro682Ala)
|
|
|
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser)
|
rs2063893838
|
|
NM_014014.5(SNRNP200):c.2047G>A (p.Val683Met)
|
|
|
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys)
|
rs556400279
|
|
NM_014014.5(SNRNP200):c.2068G>A (p.Val690Met)
|
rs2104352088
|
|
NM_014014.5(SNRNP200):c.2085A>G (p.Lys695=)
|
|
|
NM_014014.5(SNRNP200):c.209+15G>T
|
rs747801470
|
|
NM_014014.5(SNRNP200):c.209+16A>T
|
|
|
NM_014014.5(SNRNP200):c.209+17T>C
|
|
|
NM_014014.5(SNRNP200):c.209+18A>G
|
|
|
NM_014014.5(SNRNP200):c.209+9del
|
rs2063975889
|
|
NM_014014.5(SNRNP200):c.2094C>G (p.Ile698Met)
|
|
|
NM_014014.5(SNRNP200):c.210-7C>T
|
|
|
NM_014014.5(SNRNP200):c.2104C>T (p.Gln702Ter)
|
rs2063893534
|
|
NM_014014.5(SNRNP200):c.2121C>A (p.Ile707=)
|
rs746283919
|
|
NM_014014.5(SNRNP200):c.2121C>T (p.Ile707=)
|
|
|
NM_014014.5(SNRNP200):c.2124C>G (p.Val708=)
|
|
|
NM_014014.5(SNRNP200):c.2127T>C (p.Tyr709=)
|
|
|
NM_014014.5(SNRNP200):c.2143C>A (p.His715Asn)
|
rs554284886
|
|
NM_014014.5(SNRNP200):c.2143C>T (p.His715Tyr)
|
rs554284886
|
|
NM_014014.5(SNRNP200):c.2144A>G (p.His715Arg)
|
|
|
NM_014014.5(SNRNP200):c.2160+8C>A
|
rs534022491
|
|
NM_014014.5(SNRNP200):c.2161-4T>G
|
|
|
NM_014014.5(SNRNP200):c.2177A>G (p.His726Arg)
|
rs2063886262
|
|
NM_014014.5(SNRNP200):c.2220C>T (p.Asp740=)
|
|
|
NM_014014.5(SNRNP200):c.2223G>A (p.Met741Ile)
|
|
|
NM_014014.5(SNRNP200):c.2244G>C (p.Leu748=)
|
|
|
NM_014014.5(SNRNP200):c.2245G>A (p.Gly749Ser)
|
|
|
NM_014014.5(SNRNP200):c.2251T>G (p.Phe751Val)
|
|
|
NM_014014.5(SNRNP200):c.2257A>C (p.Arg753=)
|
|
|
NM_014014.5(SNRNP200):c.2292A>G (p.Thr764=)
|
|
|
NM_014014.5(SNRNP200):c.2298T>C (p.Ala766=)
|
|
|
NM_014014.5(SNRNP200):c.2310+11G>A
|
rs1465830178
|
|
NM_014014.5(SNRNP200):c.2310+11G>C
|
|
|
NM_014014.5(SNRNP200):c.2310+15G>C
|
|
|
NM_014014.5(SNRNP200):c.2310+5G>C
|
rs2063885552
|
|
NM_014014.5(SNRNP200):c.2310G>A (p.Lys770=)
|
rs2104350621
|
|
NM_014014.5(SNRNP200):c.2319G>A (p.Glu773=)
|
rs1345962823
|
|
NM_014014.5(SNRNP200):c.233G>A (p.Arg78Gln)
|
|
|
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr)
|
rs2063883437
|
|
NM_014014.5(SNRNP200):c.2365A>G (p.Met789Val)
|
|
|
NM_014014.5(SNRNP200):c.2367G>T (p.Met789Ile)
|
rs2063883395
|
|
NM_014014.5(SNRNP200):c.2380C>T (p.Arg794Ter)
|
|
|
NM_014014.5(SNRNP200):c.2389G>A (p.Val797Met)
|
|
|
NM_014014.5(SNRNP200):c.2416A>G (p.Ile806Val)
|
|
|
NM_014014.5(SNRNP200):c.2420A>G (p.Gln807Arg)
|
rs2104350240
|
|
NM_014014.5(SNRNP200):c.2421+16G>A
|
|
|
NM_014014.5(SNRNP200):c.2421+2T>C
|
rs2104350238
|
|
NM_014014.5(SNRNP200):c.2499G>A (p.Val833=)
|
rs768979907
|
|
NM_014014.5(SNRNP200):c.2502C>T (p.Tyr834=)
|
rs2104349542
|
|
NM_014014.5(SNRNP200):c.2520T>C (p.Arg840=)
|
rs781777500
|
|
NM_014014.5(SNRNP200):c.2539C>G (p.Leu847Val)
|
rs1017651316
|
|
NM_014014.5(SNRNP200):c.2553+5A>G
|
rs2063878996
|
|
NM_014014.5(SNRNP200):c.2554-16G>T
|
|
|
NM_014014.5(SNRNP200):c.2554-17C>T
|
|
|
NM_014014.5(SNRNP200):c.2569_2570inv (p.Gly857Pro)
|
|
|
NM_014014.5(SNRNP200):c.2579A>G (p.Gln860Arg)
|
|
|
NM_014014.5(SNRNP200):c.2580G>C (p.Gln860His)
|
rs146330668
|
|
NM_014014.5(SNRNP200):c.2580G>T (p.Gln860His)
|
|
|
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser)
|
rs786205529
|
|
NM_014014.5(SNRNP200):c.2599G>A (p.Gly867Ser)
|
|
|
NM_014014.5(SNRNP200):c.2625G>A (p.Glu875=)
|
|
|
NM_014014.5(SNRNP200):c.2655A>G (p.Gln885=)
|
|
|
NM_014014.5(SNRNP200):c.2662C>T (p.Pro888Ser)
|
rs866513643
|
|
NM_014014.5(SNRNP200):c.2698A>C (p.Met900Leu)
|
rs2063876895
|
|
NM_014014.5(SNRNP200):c.2699T>C (p.Met900Thr)
|
|
|
NM_014014.5(SNRNP200):c.2715C>T (p.Ile905=)
|
rs138641050
|
|
NM_014014.5(SNRNP200):c.2718G>A (p.Val906=)
|
|
|
NM_014014.5(SNRNP200):c.2729T>C (p.Val910Ala)
|
|
|
NM_014014.5(SNRNP200):c.2742+20T>G
|
|
|
NM_014014.5(SNRNP200):c.2742+2T>C
|
|
|
NM_014014.5(SNRNP200):c.2743-16G>T
|
|
|
NM_014014.5(SNRNP200):c.2743-17T>C
|
|
|
NM_014014.5(SNRNP200):c.2743-8T>A
|
|
|
NM_014014.5(SNRNP200):c.2743-8_2743-7delinsAA
|
|
|
NM_014014.5(SNRNP200):c.2744A>G (p.Asp915Gly)
|
rs2063874431
|
|
NM_014014.5(SNRNP200):c.2748G>T (p.Ala916=)
|
|
|
NM_014014.5(SNRNP200):c.2749G>T (p.Val917Leu)
|
rs2063874357
|
|
NM_014014.5(SNRNP200):c.2773C>T (p.Leu925Phe)
|
|
|
NM_014014.5(SNRNP200):c.2820T>C (p.His940=)
|
rs2063873938
|
|
NM_014014.5(SNRNP200):c.2820TGA[1] (p.Asp942del)
|
|
|
NM_014014.5(SNRNP200):c.2828T>C (p.Leu943Pro)
|
|
|
NM_014014.5(SNRNP200):c.2839C>A (p.Pro947Thr)
|
rs886056462
|
|
NM_014014.5(SNRNP200):c.283G>C (p.Asp95His)
|
rs766742688
|
|
NM_014014.5(SNRNP200):c.2840C>T (p.Pro947Leu)
|
rs2104348526
|
|
NM_014014.5(SNRNP200):c.2853G>A (p.Gln951=)
|
|
|
NM_014014.5(SNRNP200):c.2858G>A (p.Arg953Gln)
|
|
|
NM_014014.5(SNRNP200):c.2868G>A (p.Leu956=)
|
rs1182808864
|
|
NM_014014.5(SNRNP200):c.2879C>G (p.Ala960Gly)
|
rs138686895
|
|
NM_014014.5(SNRNP200):c.2882C>T (p.Ala961Val)
|
|
|
NM_014014.5(SNRNP200):c.2883C>T (p.Ala961=)
|
|
|
NM_014014.5(SNRNP200):c.2895C>G (p.Asp965Glu)
|
|
|
NM_014014.5(SNRNP200):c.2904T>C (p.Asn968=)
|
rs2104348426
|
|
NM_014014.5(SNRNP200):c.2910C>T (p.Val970=)
|
|
|
NM_014014.5(SNRNP200):c.2940+10G>A
|
rs2104348375
|
|
NM_014014.5(SNRNP200):c.2941-8C>A
|
|
|
NM_014014.5(SNRNP200):c.2950C>A (p.Leu984Met)
|
|
|
NM_014014.5(SNRNP200):c.2950C>G (p.Leu984Val)
|
rs769208303
|
|
NM_014014.5(SNRNP200):c.2957G>A (p.Arg986His)
|
rs1220944302
|
|
NM_014014.5(SNRNP200):c.2961A>G (p.Ile987Met)
|
|
|
NM_014014.5(SNRNP200):c.2976C>T (p.Tyr992=)
|
|
|
NM_014014.5(SNRNP200):c.2992G>C (p.Val998Leu)
|
|
|
NM_014014.5(SNRNP200):c.3001T>C (p.Tyr1001His)
|
|
|
NM_014014.5(SNRNP200):c.3012G>A (p.Leu1004=)
|
|
|
NM_014014.5(SNRNP200):c.3031G>A (p.Glu1011Lys)
|
|
|
NM_014014.5(SNRNP200):c.3072C>T (p.Phe1024=)
|
|
|
NM_014014.5(SNRNP200):c.3074A>G (p.Lys1025Arg)
|
rs2104347738
|
|
NM_014014.5(SNRNP200):c.3075_3076insTG (p.Asn1026Ter)
|
|
|
NM_014014.5(SNRNP200):c.3093+16A>G
|
rs2104347682
|
|
NM_014014.5(SNRNP200):c.3093+9A>G
|
|
|
NM_014014.5(SNRNP200):c.30A>G (p.Gln10=)
|
|
|
NM_014014.5(SNRNP200):c.3113A>C (p.Gln1038Pro)
|
rs2063867762
|
|
NM_014014.5(SNRNP200):c.3123G>A (p.Leu1041=)
|
rs2063867707
|
|
NM_014014.5(SNRNP200):c.312C>T (p.Pro104=)
|
rs2063964501
|
|
NM_014014.5(SNRNP200):c.3134_3135del (p.Pro1045fs)
|
rs2104347483
|
|
NM_014014.5(SNRNP200):c.3136A>G (p.Ile1046Val)
|
|
|
NM_014014.5(SNRNP200):c.3154A>C (p.Ile1052Leu)
|
|
|
NM_014014.5(SNRNP200):c.3155T>C (p.Ile1052Thr)
|
|
|
NM_014014.5(SNRNP200):c.3169G>A (p.Ala1057Thr)
|
rs1316852613
|
|
NM_014014.5(SNRNP200):c.3174+15T>C
|
|
|
NM_014014.5(SNRNP200):c.3174G>A (p.Lys1058=)
|
|
|
NM_014014.5(SNRNP200):c.3175-14T>C
|
|
|
NM_014014.5(SNRNP200):c.3175-8C>G
|
rs2063866129
|
|
NM_014014.5(SNRNP200):c.3175A>G (p.Ile1059Val)
|
|
|
NM_014014.5(SNRNP200):c.3179A>G (p.Asn1060Ser)
|
rs1356922568
|
|
NM_014014.5(SNRNP200):c.3180C>T (p.Asn1060=)
|
|
|
NM_014014.5(SNRNP200):c.3183T>C (p.Val1061=)
|
rs2063865990
|
|
NM_014014.5(SNRNP200):c.3193G>A (p.Ala1065Thr)
|
rs2104347040
|
|
NM_014014.5(SNRNP200):c.3209T>C (p.Leu1070Pro)
|
|
|
NM_014014.5(SNRNP200):c.3210G>A (p.Leu1070=)
|
|
|
NM_014014.5(SNRNP200):c.3222C>A (p.Gly1074=)
|
rs2104347015
|
|
NM_014014.5(SNRNP200):c.3232A>T (p.Met1078Leu)
|
|
|
NM_014014.5(SNRNP200):c.3250G>A (p.Val1084Ile)
|
rs1180809021
|
|
NM_014014.5(SNRNP200):c.3258+16T>C
|
|
|
NM_014014.5(SNRNP200):c.3258+6A>G
|
|
|
NM_014014.5(SNRNP200):c.3258+8C>T
|
|
|
NM_014014.5(SNRNP200):c.325A>C (p.Thr109Pro)
|
|
|
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)
|
rs267607077
|
|
NM_014014.5(SNRNP200):c.3261G>A (p.Ser1087=)
|
rs767996462
|
|
NM_014014.5(SNRNP200):c.3268C>T (p.Arg1090Trp)
|
rs1223054032
|
|
NM_014014.5(SNRNP200):c.3270G>A (p.Arg1090=)
|
|
|
NM_014014.5(SNRNP200):c.3277C>G (p.Arg1093Gly)
|
|
|
NM_014014.5(SNRNP200):c.3281C>T (p.Ala1094Val)
|
|
|
NM_014014.5(SNRNP200):c.3308G>A (p.Gly1103Asp)
|
|
|
NM_014014.5(SNRNP200):c.3314C>T (p.Ala1105Val)
|
|
|
NM_014014.5(SNRNP200):c.3365+19G>T
|
|
|
NM_014014.5(SNRNP200):c.3366-11T>G
|
rs2104345581
|
|
NM_014014.5(SNRNP200):c.3366-12C>T
|
rs2104345585
|
|
NM_014014.5(SNRNP200):c.3366-13C>T
|
|
|
NM_014014.5(SNRNP200):c.3366-15C>G
|
rs745899662
|
|
NM_014014.5(SNRNP200):c.3366-15C>T
|
|
|
NM_014014.5(SNRNP200):c.3366-6G>A
|
|
|
NM_014014.5(SNRNP200):c.3366-9C>T
|
rs2104345571
|
|
NM_014014.5(SNRNP200):c.3378G>T (p.Met1126Ile)
|
|
|
NM_014014.5(SNRNP200):c.3385C>T (p.Leu1129=)
|
|
|
NM_014014.5(SNRNP200):c.3392A>G (p.Gln1131Arg)
|
|
|
NM_014014.5(SNRNP200):c.3397C>T (p.Arg1133Trp)
|
|
|
NM_014014.5(SNRNP200):c.3398G>A (p.Arg1133Gln)
|
rs1426272258
|
|
NM_014014.5(SNRNP200):c.3402A>G (p.Lys1134=)
|
|
|
NM_014014.5(SNRNP200):c.3439A>C (p.Asn1147His)
|
rs2104345476
|
|
NM_014014.5(SNRNP200):c.343G>A (p.Val115Met)
|
rs1473759538
|
|
NM_014014.5(SNRNP200):c.346C>A (p.Leu116Ile)
|
|
|
NM_014014.5(SNRNP200):c.3475A>G (p.Asn1159Asp)
|
rs755662756
|
|
NM_014014.5(SNRNP200):c.3475_3477del (p.Asn1159del)
|
|
|
NM_014014.5(SNRNP200):c.3480G>C (p.Glu1160Asp)
|
|
|
NM_014014.5(SNRNP200):c.3484+18G>A
|
|
|
NM_014014.5(SNRNP200):c.3484+19C>T
|
|
|
NM_014014.5(SNRNP200):c.3484+3G>A
|
rs2063850794
|
|
NM_014014.5(SNRNP200):c.3536A>G (p.His1179Arg)
|
|
|
NM_014014.5(SNRNP200):c.3579C>T (p.Ile1193=)
|
|
|
NM_014014.5(SNRNP200):c.3584G>C (p.Arg1195Pro)
|
rs2104344895
|
|
NM_014014.5(SNRNP200):c.358A>T (p.Ile120Phe)
|
|
|
NM_014014.5(SNRNP200):c.3592C>T (p.Leu1198=)
|
|
|
NM_014014.5(SNRNP200):c.3594G>C (p.Leu1198=)
|
|
|
NM_014014.5(SNRNP200):c.3603G>A (p.Glu1201=)
|
rs1204949958
|
|
NM_014014.5(SNRNP200):c.3606G>T (p.Leu1202=)
|
rs1399236639
|
|
NM_014014.5(SNRNP200):c.3609C>A (p.Thr1203=)
|
rs2104344873
|
|
NM_014014.5(SNRNP200):c.3615G>A (p.Thr1205=)
|
rs771067816
|
|
NM_014014.5(SNRNP200):c.3621_3626del (p.Asp1207_Gln1209delinsGlu)
|
|
|
NM_014014.5(SNRNP200):c.3627G>A (p.Gln1209=)
|
|
|
NM_014014.5(SNRNP200):c.3632A>G (p.Asp1211Gly)
|
rs886056460
|
|
NM_014014.5(SNRNP200):c.3639+18A>T
|
rs2063848297
|
|
NM_014014.5(SNRNP200):c.3639+18_3639+58del
|
rs1363349333
|
|
NM_014014.5(SNRNP200):c.3640-11C>T
|
|
|
NM_014014.5(SNRNP200):c.3648T>C (p.Gly1216=)
|
|
|
NM_014014.5(SNRNP200):c.3655G>A (p.Glu1219Lys)
|
|
|
NM_014014.5(SNRNP200):c.3656A>T (p.Glu1219Val)
|
|
|
NM_014014.5(SNRNP200):c.3663T>C (p.Phe1221=)
|
rs1573993624
|
|
NM_014014.5(SNRNP200):c.3670C>T (p.Leu1224=)
|
rs2063846897
|
|
NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly)
|
rs372772120
|
|
NM_014014.5(SNRNP200):c.3694G>T (p.Val1232Leu)
|
rs2104344508
|
|
NM_014014.5(SNRNP200):c.3699T>G (p.Ile1233Met)
|
|
|
NM_014014.5(SNRNP200):c.369T>C (p.Ala123=)
|
rs2104365060
|
|
NM_014014.5(SNRNP200):c.3708T>C (p.His1236=)
|
rs754864153
|
|
NM_014014.5(SNRNP200):c.3752T>G (p.Leu1251Arg)
|
|
|
NM_014014.5(SNRNP200):c.3757A>G (p.Thr1253Ala)
|
|
|
NM_014014.5(SNRNP200):c.375G>C (p.Gly125=)
|
|
|
NM_014014.5(SNRNP200):c.3762C>T (p.Phe1254=)
|
|
|
NM_014014.5(SNRNP200):c.3771T>G (p.Pro1257=)
|
rs2104344396
|
|
NM_014014.5(SNRNP200):c.3783G>A (p.Pro1261=)
|
rs770679567
|
|
NM_014014.5(SNRNP200):c.3783G>T (p.Pro1261=)
|
rs770679567
|
|
NM_014014.5(SNRNP200):c.3787C>T (p.Pro1263Ser)
|
|
|
NM_014014.5(SNRNP200):c.378C>T (p.Asp126=)
|
rs1272471542
|
|
NM_014014.5(SNRNP200):c.3790C>G (p.Pro1264Ala)
|
|
|
NM_014014.5(SNRNP200):c.3797A>T (p.Tyr1266Phe)
|
|
|
NM_014014.5(SNRNP200):c.381+12A>T
|
rs2104365046
|
|
NM_014014.5(SNRNP200):c.381+13T>G
|
|
|
NM_014014.5(SNRNP200):c.381+3G>T
|
rs2063964017
|
|
NM_014014.5(SNRNP200):c.381+7G>T
|
|
|
NM_014014.5(SNRNP200):c.3819C>T (p.Asp1273=)
|
|
|
NM_014014.5(SNRNP200):c.382-13T>G
|
rs759075763
|
|
NM_014014.5(SNRNP200):c.382-18G>C
|
rs1434173165
|
|
NM_014014.5(SNRNP200):c.3824G>A (p.Trp1275Ter)
|
rs2063845804
|
|
NM_014014.5(SNRNP200):c.3832T>C (p.Cys1278Arg)
|
rs2104343990
|
|
NM_014014.5(SNRNP200):c.3838A>G (p.Thr1280Ala)
|
rs1573993361
|
|
NM_014014.5(SNRNP200):c.3859C>T (p.Arg1287Trp)
|
rs1004264460
|
|
NM_014014.5(SNRNP200):c.3860G>A (p.Arg1287Gln)
|
rs1482554317
|
|
NM_014014.5(SNRNP200):c.386G>A (p.Arg129His)
|
|
|
NM_014014.5(SNRNP200):c.3885C>A (p.Tyr1295Ter)
|
rs2104343890
|
|
NM_014014.5(SNRNP200):c.3888C>A (p.Pro1296=)
|
rs143175658
|
|
NM_014014.5(SNRNP200):c.3888C>G (p.Pro1296=)
|
rs143175658
|
|
NM_014014.5(SNRNP200):c.3890C>T (p.Pro1297Leu)
|
rs2104343853
|
|
NM_014014.5(SNRNP200):c.3894A>G (p.Pro1298=)
|
rs751701113
|
|
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)
|
rs144934076
|
|
NM_014014.5(SNRNP200):c.3897C>T (p.Thr1299=)
|
rs144934076
|
|
NM_014014.5(SNRNP200):c.3904T>C (p.Leu1302=)
|
|
|
NM_014014.5(SNRNP200):c.3912G>A (p.Leu1304=)
|
rs753163961
|
|
NM_014014.5(SNRNP200):c.392T>C (p.Ile131Thr)
|
rs2104363235
|
|
NM_014014.5(SNRNP200):c.3941A>G (p.Asn1314Ser)
|
|
|
NM_014014.5(SNRNP200):c.3946G>T (p.Ala1316Ser)
|
|
|
NM_014014.5(SNRNP200):c.3969T>G (p.Asp1323Glu)
|
|
|
NM_014014.5(SNRNP200):c.3986A>G (p.Asn1329Ser)
|
rs866141824
|
|
NM_014014.5(SNRNP200):c.3993C>G (p.Ile1331Met)
|
rs775329368
|
|
NM_014014.5(SNRNP200):c.4004-13T>C
|
|
|
NM_014014.5(SNRNP200):c.4004-18C>G
|
|
|
NM_014014.5(SNRNP200):c.4004-4C>T
|
rs765154536
|
|
NM_014014.5(SNRNP200):c.4035C>T (p.Asn1345=)
|
|
|
NM_014014.5(SNRNP200):c.4036G>A (p.Val1346Met)
|
rs779054512
|
|
NM_014014.5(SNRNP200):c.4036G>T (p.Val1346Leu)
|
|
|
NM_014014.5(SNRNP200):c.4039T>C (p.Phe1347Leu)
|
rs2104342487
|
|
NM_014014.5(SNRNP200):c.4047G>T (p.Gly1349=)
|
rs1307393246
|
|
NM_014014.5(SNRNP200):c.4072A>G (p.Ile1358Val)
|
|
|
NM_014014.5(SNRNP200):c.4133A>G (p.Tyr1378Cys)
|
rs2104342310
|
|
NM_014014.5(SNRNP200):c.4137C>T (p.Ile1379=)
|
|
|
NM_014014.5(SNRNP200):c.4162C>A (p.Gln1388Lys)
|
|
|
NM_014014.5(SNRNP200):c.4164+11G>C
|
|
|
NM_014014.5(SNRNP200):c.4164+13G>A
|
|
|
NM_014014.5(SNRNP200):c.4164+8G>T
|
rs780753488
|
|
NM_014014.5(SNRNP200):c.4165-17C>T
|
|
|
NM_014014.5(SNRNP200):c.4165-18C>G
|
|
|
NM_014014.5(SNRNP200):c.4165-7C>T
|
|
|
NM_014014.5(SNRNP200):c.4178G>C (p.Trp1393Ser)
|
rs2104341245
|
|
NM_014014.5(SNRNP200):c.4182C>T (p.Tyr1394=)
|
rs1323243822
|
|
NM_014014.5(SNRNP200):c.4183G>A (p.Glu1395Lys)
|
rs2063830426
|
|
NM_014014.5(SNRNP200):c.418C>G (p.Leu140Val)
|
rs773122399
|
|
NM_014014.5(SNRNP200):c.4200G>T (p.Arg1400Ser)
|
|
|
NM_014014.5(SNRNP200):c.4221C>G (p.Leu1407=)
|
|
|
NM_014014.5(SNRNP200):c.4257G>A (p.Leu1419=)
|
|
|
NM_014014.5(SNRNP200):c.4278C>G (p.Ile1426Met)
|
|
|
NM_014014.5(SNRNP200):c.4293G>A (p.Lys1431=)
|
rs781245650
|
|
NM_014014.5(SNRNP200):c.4322A>C (p.Gln1441Pro)
|
|
|
NM_014014.5(SNRNP200):c.4354G>A (p.Val1452Met)
|
rs2063829024
|
|
NM_014014.5(SNRNP200):c.4365G>A (p.Glu1455=)
|
|
|
NM_014014.5(SNRNP200):c.4371C>T (p.His1457=)
|
|
|
NM_014014.5(SNRNP200):c.4389T>C (p.Asn1463=)
|
|
|
NM_014014.5(SNRNP200):c.4392+15T>A
|
|
|
NM_014014.5(SNRNP200):c.4392+17C>A
|
|
|
NM_014014.5(SNRNP200):c.4392+7C>T
|
|
|
NM_014014.5(SNRNP200):c.4392G>T (p.Gly1464=)
|
rs2063828192
|
|
NM_014014.5(SNRNP200):c.4393-23CCTC[5]
|
rs752499482
|
|
NM_014014.5(SNRNP200):c.4420A>G (p.Met1474Val)
|
rs929059645
|
|
NM_014014.5(SNRNP200):c.4421T>A (p.Met1474Lys)
|
|
|
NM_014014.5(SNRNP200):c.4423C>T (p.Arg1475Cys)
|
|
|
NM_014014.5(SNRNP200):c.4429A>C (p.Ile1477Leu)
|
|
|
NM_014014.5(SNRNP200):c.4442T>C (p.Ile1481Thr)
|
rs1326648143
|
|
NM_014014.5(SNRNP200):c.4447C>A (p.Arg1483=)
|
|
|
NM_014014.5(SNRNP200):c.4447C>T (p.Arg1483Trp)
|
|
|
NM_014014.5(SNRNP200):c.4462G>A (p.Val1488Met)
|
rs1160582211
|
|
NM_014014.5(SNRNP200):c.4479G>T (p.Ser1493=)
|
rs199683761
|
|
NM_014014.5(SNRNP200):c.4522G>A (p.Ala1508Thr)
|
rs2063824819
|
|
NM_014014.5(SNRNP200):c.4530C>T (p.Ser1510=)
|
|
|
NM_014014.5(SNRNP200):c.4551T>C (p.Asn1517=)
|
|
|
NM_014014.5(SNRNP200):c.4555C>T (p.Arg1519Cys)
|
|
|
NM_014014.5(SNRNP200):c.4556G>A (p.Arg1519His)
|
|
|
NM_014014.5(SNRNP200):c.4563C>T (p.Val1521=)
|
rs2063824580
|
|
NM_014014.5(SNRNP200):c.4581C>A (p.Ile1527=)
|
|
|
NM_014014.5(SNRNP200):c.4584+13C>A
|
|
|
NM_014014.5(SNRNP200):c.4584+15C>A
|
|
|
NM_014014.5(SNRNP200):c.4584+4G>T
|
|
|
NM_014014.5(SNRNP200):c.4585-13C>T
|
rs757275336
|
|
NM_014014.5(SNRNP200):c.4585-15C>A
|
|
|
NM_014014.5(SNRNP200):c.4585-20T>G
|
|
|
NM_014014.5(SNRNP200):c.4585-5G>A
|
|
|
NM_014014.5(SNRNP200):c.4593C>T (p.Asn1531=)
|
rs2063823706
|
|
NM_014014.5(SNRNP200):c.4594A>G (p.Ile1532Val)
|
|
|
NM_014014.5(SNRNP200):c.4594A>T (p.Ile1532Phe)
|
rs771740670
|
|
NM_014014.5(SNRNP200):c.4596C>T (p.Ile1532=)
|
|
|
NM_014014.5(SNRNP200):c.46-7_46-3del
|
|
|
NM_014014.5(SNRNP200):c.4600C>T (p.His1534Tyr)
|
|
|
NM_014014.5(SNRNP200):c.461G>A (p.Arg154Gln)
|
|
|
NM_014014.5(SNRNP200):c.4624A>G (p.Met1542Val)
|
|
|
NM_014014.5(SNRNP200):c.4638_4639del (p.Tyr1547fs)
|
rs2104339804
|
|
NM_014014.5(SNRNP200):c.4651A>G (p.Thr1551Ala)
|
|
|
NM_014014.5(SNRNP200):c.4653C>T (p.Thr1551=)
|
|
|
NM_014014.5(SNRNP200):c.4680T>G (p.Ile1560Met)
|
|
|
NM_014014.5(SNRNP200):c.4700A>G (p.Lys1567Arg)
|
|
|
NM_014014.5(SNRNP200):c.4708C>T (p.Arg1570Cys)
|
rs201501591
|
|
NM_014014.5(SNRNP200):c.4714A>G (p.Thr1572Ala)
|
rs2104339686
|
|
NM_014014.5(SNRNP200):c.4728C>A (p.Ile1576=)
|
|
|
NM_014014.5(SNRNP200):c.473A>G (p.Asp158Gly)
|
|
|
NM_014014.5(SNRNP200):c.4763+17G>A
|
rs775355193
|
|
NM_014014.5(SNRNP200):c.4763+17G>T
|
|
|
NM_014014.5(SNRNP200):c.4763+5G>A
|
|
|
NM_014014.5(SNRNP200):c.4763+7G>A
|
rs2104339611
|
|
NM_014014.5(SNRNP200):c.4780G>A (p.Glu1594Lys)
|
rs1169851633
|
|
NM_014014.5(SNRNP200):c.4791G>A (p.Leu1597=)
|
rs2104339382
|
|
NM_014014.5(SNRNP200):c.4797G>A (p.Pro1599=)
|
rs373420811
|
|
NM_014014.5(SNRNP200):c.4801C>T (p.Leu1601=)
|
|
|
NM_014014.5(SNRNP200):c.4810C>T (p.Leu1604=)
|
rs2104339357
|
|
NM_014014.5(SNRNP200):c.4813A>C (p.Ser1605Arg)
|
|
|
NM_014014.5(SNRNP200):c.4814G>A (p.Ser1605Asn)
|
rs2104339345
|
|
NM_014014.5(SNRNP200):c.4827C>A (p.Leu1609=)
|
rs2104339319
|
|
NM_014014.5(SNRNP200):c.4835C>G (p.Thr1612Arg)
|
rs1288236394
|
|
NM_014014.5(SNRNP200):c.4835C>T (p.Thr1612Met)
|
|
|
NM_014014.5(SNRNP200):c.4851G>A (p.Val1617=)
|
|
|
NM_014014.5(SNRNP200):c.4853G>A (p.Gly1618Asp)
|
rs2063816589
|
|
NM_014014.5(SNRNP200):c.485G>A (p.Gly162Asp)
|
|
|
NM_014014.5(SNRNP200):c.4875C>T (p.Ser1625=)
|
|
|
NM_014014.5(SNRNP200):c.4888C>T (p.Arg1630Cys)
|
rs2063816366
|
|
NM_014014.5(SNRNP200):c.4889G>A (p.Arg1630His)
|
rs756388323
|
|
NM_014014.5(SNRNP200):c.4890C>T (p.Arg1630=)
|
|
|
NM_014014.5(SNRNP200):c.4891C>T (p.Leu1631=)
|
|
|
NM_014014.5(SNRNP200):c.4893G>C (p.Leu1631=)
|
rs2063816328
|
|
NM_014014.5(SNRNP200):c.4894G>T (p.Val1632Leu)
|
|
|
NM_014014.5(SNRNP200):c.4909A>G (p.Ser1637Gly)
|
rs2104339231
|
|
NM_014014.5(SNRNP200):c.4911C>T (p.Ser1637=)
|
|
|
NM_014014.5(SNRNP200):c.4913C>T (p.Ser1638Leu)
|
rs2063816128
|
|
NM_014014.5(SNRNP200):c.4915+5G>A
|
rs2104339207
|
|
NM_014014.5(SNRNP200):c.4916-13C>T
|
|
|
NM_014014.5(SNRNP200):c.4916-14C>A
|
|
|
NM_014014.5(SNRNP200):c.4916-15C>T
|
|
|
NM_014014.5(SNRNP200):c.4916-6G>A
|
|
|
NM_014014.5(SNRNP200):c.4942C>T (p.Arg1648Trp)
|
rs377595031
|
|
NM_014014.5(SNRNP200):c.4975C>A (p.His1659Asn)
|
|
|
NM_014014.5(SNRNP200):c.4975C>T (p.His1659Tyr)
|
|
|
NM_014014.5(SNRNP200):c.4983A>G (p.Val1661=)
|
rs2104337325
|
|
NM_014014.5(SNRNP200):c.4984A>G (p.Ile1662Val)
|
|
|
NM_014014.5(SNRNP200):c.4986CAT[1] (p.Ile1663del)
|
|
|
NM_014014.5(SNRNP200):c.4996A>T (p.Thr1666Ser)
|
rs2104337284
|
|
NM_014014.5(SNRNP200):c.5001G>A (p.Gln1667=)
|
|
|
NM_014014.5(SNRNP200):c.5021A>G (p.His1674Arg)
|
|
|
NM_014014.5(SNRNP200):c.5024+15T>G
|
|
|
NM_014014.5(SNRNP200):c.5024+7A>G
|
|
|
NM_014014.5(SNRNP200):c.5024C>T (p.Ala1675Val)
|
|
|
NM_014014.5(SNRNP200):c.513G>A (p.Val171=)
|
|
|
NM_014014.5(SNRNP200):c.516A>G (p.Leu172=)
|
rs1393911424
|
|
NM_014014.5(SNRNP200):c.5324-11C>T
|
|
|
NM_014014.5(SNRNP200):c.5328C>T (p.Ile1776=)
|
|
|
NM_014014.5(SNRNP200):c.5355G>A (p.Leu1785=)
|
|
|
NM_014014.5(SNRNP200):c.5365G>A (p.Val1789Met)
|
|
|
NM_014014.5(SNRNP200):c.5393A>T (p.Gln1798Leu)
|
|
|
NM_014014.5(SNRNP200):c.5404A>C (p.Ile1802Leu)
|
rs757783750
|
|
NM_014014.5(SNRNP200):c.5422A>T (p.Met1808Leu)
|
|
|
NM_014014.5(SNRNP200):c.5437C>T (p.Leu1813=)
|
|
|
NM_014014.5(SNRNP200):c.5454C>T (p.Ile1818=)
|
|
|
NM_014014.5(SNRNP200):c.545A>G (p.Tyr182Cys)
|
|
|
NM_014014.5(SNRNP200):c.5467T>G (p.Tyr1823Asp)
|
rs769995359
|
|
NM_014014.5(SNRNP200):c.5472C>T (p.Ile1824=)
|
|
|
NM_014014.5(SNRNP200):c.5488+12C>T
|
rs2104332419
|
|
NM_014014.5(SNRNP200):c.5488+14T>C
|
|
|
NM_014014.5(SNRNP200):c.5488+19C>G
|
rs370095598
|
|
NM_014014.5(SNRNP200):c.5488+20G>A
|
|
|
NM_014014.5(SNRNP200):c.5489-10T>C
|
rs2104332120
|
|
NM_014014.5(SNRNP200):c.5489-19C>T
|
|
|
NM_014014.5(SNRNP200):c.5490G>A (p.Glu1830=)
|
rs1332134246
|
|
NM_014014.5(SNRNP200):c.5493C>T (p.Leu1831=)
|
|
|
NM_014014.5(SNRNP200):c.5500A>G (p.Met1834Val)
|
|
|
NM_014014.5(SNRNP200):c.5505C>T (p.Ser1835=)
|
rs1289878014
|
|
NM_014014.5(SNRNP200):c.5506C>G (p.Leu1836Val)
|
|
|
NM_014014.5(SNRNP200):c.5545A>G (p.Ile1849Val)
|
|
|
NM_014014.5(SNRNP200):c.5551A>C (p.Asn1851His)
|
|
|
NM_014014.5(SNRNP200):c.5559A>G (p.Ala1853=)
|
|
|
NM_014014.5(SNRNP200):c.5583G>A (p.Arg1861=)
|
|
|
NM_014014.5(SNRNP200):c.5601C>T (p.Leu1867=)
|
rs756852983
|
|
NM_014014.5(SNRNP200):c.5610+15C>A
|
rs1573988343
|
|
NM_014014.5(SNRNP200):c.5610+6G>A
|
|
|
NM_014014.5(SNRNP200):c.5611-13T>G
|
|
|
NM_014014.5(SNRNP200):c.5654A>G (p.Asn1885Ser)
|
rs1295558388
|
|
NM_014014.5(SNRNP200):c.5658T>C (p.Asp1886=)
|
rs757860247
|
|
NM_014014.5(SNRNP200):c.5662C>T (p.His1888Tyr)
|
rs2104331540
|
|
NM_014014.5(SNRNP200):c.5691T>A (p.Ala1897=)
|
|
|
NM_014014.5(SNRNP200):c.5692C>T (p.His1898Tyr)
|
|
|
NM_014014.5(SNRNP200):c.5733T>C (p.Asp1911=)
|
rs563829782
|
|
NM_014014.5(SNRNP200):c.5735C>T (p.Thr1912Met)
|
|
|
NM_014014.5(SNRNP200):c.5736G>A (p.Thr1912=)
|
|
|
NM_014014.5(SNRNP200):c.574+10C>T
|
rs368132966
|
|
NM_014014.5(SNRNP200):c.574+11G>T
|
rs772071869
|
|
NM_014014.5(SNRNP200):c.574+5G>C
|
|
|
NM_014014.5(SNRNP200):c.575-19_575-11del
|
rs756302866
|
|
NM_014014.5(SNRNP200):c.5754+18G>A
|
rs2104331402
|
|
NM_014014.5(SNRNP200):c.5754+4G>A
|
|
|
NM_014014.5(SNRNP200):c.5754+6G>A
|
|
|
NM_014014.5(SNRNP200):c.5755-10T>C
|
|
|
NM_014014.5(SNRNP200):c.5755-10T>G
|
rs2104331220
|
|
NM_014014.5(SNRNP200):c.5755-16T>C
|
rs1295184915
|
|
NM_014014.5(SNRNP200):c.5755-9C>A
|
|
|
NM_014014.5(SNRNP200):c.5799T>C (p.Asn1933=)
|
rs1340780912
|
|
NM_014014.5(SNRNP200):c.5822C>G (p.Ala1941Gly)
|
|
|
NM_014014.5(SNRNP200):c.5822C>T (p.Ala1941Val)
|
rs1684690073
|
|
NM_014014.5(SNRNP200):c.583A>G (p.Ile195Val)
|
rs1574001405
|
|
NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His)
|
|
|
NM_014014.5(SNRNP200):c.5931+12C>A
|
|
|
NM_014014.5(SNRNP200):c.5931+15C>T
|
|
|
NM_014014.5(SNRNP200):c.5931+3G>A
|
|
|
NM_014014.5(SNRNP200):c.5932-17C>T
|
|
|
NM_014014.5(SNRNP200):c.5932-8C>T
|
|
|
NM_014014.5(SNRNP200):c.5953A>G (p.Ile1985Val)
|
|
|
NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr)
|
rs201691299
|
|
NM_014014.5(SNRNP200):c.601G>A (p.Val201Met)
|
|
|
NM_014014.5(SNRNP200):c.6026G>A (p.Arg2009His)
|
|
|
NM_014014.5(SNRNP200):c.6037C>T (p.Arg2013Cys)
|
rs935757494
|
|
NM_014014.5(SNRNP200):c.6051C>T (p.Ile2017=)
|
|
|
NM_014014.5(SNRNP200):c.6063T>C (p.Tyr2021=)
|
rs1684679622
|
|
NM_014014.5(SNRNP200):c.6075T>A (p.Asp2025Glu)
|
|
|
NM_014014.5(SNRNP200):c.6092+14G>T
|
|
|
NM_014014.5(SNRNP200):c.6093-12C>T
|
|
|
NM_014014.5(SNRNP200):c.6093-15C>T
|
|
|
NM_014014.5(SNRNP200):c.6093-16T>C
|
|
|
NM_014014.5(SNRNP200):c.6093-19C>T
|
|
|
NM_014014.5(SNRNP200):c.6093-20C>T
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rs1487244457
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NM_014014.5(SNRNP200):c.6093-7C>G
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rs201143866
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NM_014014.5(SNRNP200):c.6097G>C (p.Gly2033Arg)
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rs752450131
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NM_014014.5(SNRNP200):c.6104T>C (p.Val2035Ala)
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NM_014014.5(SNRNP200):c.6108G>T (p.Val2036=)
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rs373253591
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NM_014014.5(SNRNP200):c.6150T>A (p.Pro2050=)
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NM_014014.5(SNRNP200):c.6151G>T (p.Val2051Phe)
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rs1684675880
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NM_014014.5(SNRNP200):c.6168C>T (p.Phe2056=)
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NM_014014.5(SNRNP200):c.6170C>T (p.Pro2057Leu)
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NM_014014.5(SNRNP200):c.6174+13A>G
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NM_014014.5(SNRNP200):c.6174+7C>T
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NM_014014.5(SNRNP200):c.6175-2A>G
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NM_014014.5(SNRNP200):c.6178C>T (p.Arg2060Cys)
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rs2104327424
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NM_014014.5(SNRNP200):c.6237C>T (p.Ile2079=)
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NM_014014.5(SNRNP200):c.6240G>A (p.Lys2080=)
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NM_014014.5(SNRNP200):c.6268-14C>T
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rs2104327201
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NM_014014.5(SNRNP200):c.6268-5del
|
rs1684632565
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NM_014014.5(SNRNP200):c.6268-8C>T
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NM_014014.5(SNRNP200):c.6274T>C (p.Leu2092=)
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NM_014014.5(SNRNP200):c.6292G>A (p.Ala2098Thr)
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NM_014014.5(SNRNP200):c.630+12A>G
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rs199521556
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NM_014014.5(SNRNP200):c.630+14A>C
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NM_014014.5(SNRNP200):c.631-10A>C
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NM_014014.5(SNRNP200):c.631-17del
|
rs781529204
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NM_014014.5(SNRNP200):c.631-19G>A
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NM_014014.5(SNRNP200):c.631-7T>G
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NM_014014.5(SNRNP200):c.637G>A (p.Asp213Asn)
|
rs1236495213
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NM_014014.5(SNRNP200):c.6384A>G (p.Glu2128=)
|
rs2104327041
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NM_014014.5(SNRNP200):c.6387T>C (p.Ala2129=)
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NM_014014.5(SNRNP200):c.6389A>G (p.Glu2130Gly)
|
rs1489562732
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NM_014014.5(SNRNP200):c.6397A>G (p.Ser2133Gly)
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NM_014014.5(SNRNP200):c.6410G>C (p.Ter2137Ser)
|
rs2104326981
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NM_014014.5(SNRNP200):c.645C>T (p.Asp215=)
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NM_014014.5(SNRNP200):c.662G>A (p.Arg221Gln)
|
rs1574000471
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NM_014014.5(SNRNP200):c.66A>G (p.Gln22=)
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NM_014014.5(SNRNP200):c.687G>C (p.Met229Ile)
|
rs1558771619
|
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NM_014014.5(SNRNP200):c.697G>A (p.Glu233Lys)
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NM_014014.5(SNRNP200):c.699G>T (p.Glu233Asp)
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NM_014014.5(SNRNP200):c.706G>A (p.Val236Met)
|
rs1202965081
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NM_014014.5(SNRNP200):c.710G>A (p.Arg237His)
|
rs1280340102
|
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NM_014014.5(SNRNP200):c.723G>A (p.Ser241=)
|
rs2276647
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NM_014014.5(SNRNP200):c.732C>G (p.Leu244=)
|
rs199688602
|
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NM_014014.5(SNRNP200):c.732C>T (p.Leu244=)
|
rs199688602
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NM_014014.5(SNRNP200):c.733G>C (p.Val245Leu)
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NM_014014.5(SNRNP200):c.739T>G (p.Ser247Ala)
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NM_014014.5(SNRNP200):c.744T>G (p.Gly248=)
|
rs1574000215
|
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NM_014014.5(SNRNP200):c.758C>G (p.Ser253Cys)
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NM_014014.5(SNRNP200):c.767A>C (p.Lys256Thr)
|
rs1574000198
|
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NM_014014.5(SNRNP200):c.783G>C (p.Arg261=)
|
rs1574000170
|
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NM_014014.5(SNRNP200):c.784G>A (p.Asp262Asn)
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NM_014014.5(SNRNP200):c.795A>G (p.Ala265=)
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NM_014014.5(SNRNP200):c.807G>A (p.Gln269=)
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NM_014014.5(SNRNP200):c.81C>T (p.Leu27=)
|
rs1209947874
|
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NM_014014.5(SNRNP200):c.820C>T (p.Arg274Cys)
|
rs778937829
|
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NM_014014.5(SNRNP200):c.841G>C (p.Val281Leu)
|
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NM_014014.5(SNRNP200):c.860A>T (p.Asp287Val)
|
rs2063935656
|
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NM_014014.5(SNRNP200):c.868T>C (p.Leu290=)
|
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NM_014014.5(SNRNP200):c.879G>A (p.Leu293=)
|
rs1320629705
|
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NM_014014.5(SNRNP200):c.882+5G>A
|
|
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NM_014014.5(SNRNP200):c.882+7C>T
|
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NM_014014.5(SNRNP200):c.883-18G>A
|
rs2104359422
|
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NM_014014.5(SNRNP200):c.903A>G (p.Glu301=)
|
|
|
NM_014014.5(SNRNP200):c.924G>A (p.Leu308=)
|
rs1358212967
|
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NM_014014.5(SNRNP200):c.927G>T (p.Leu309=)
|
rs1340691670
|
|
NM_014014.5(SNRNP200):c.945T>A (p.Phe315Leu)
|
|
|
NM_014014.5(SNRNP200):c.949T>A (p.Phe317Ile)
|
|
|
NM_014014.5(SNRNP200):c.982+6T>A
|
rs2063933993
|
|
NM_014014.5(SNRNP200):c.982+6T>C
|
rs2063933993
|
|
NM_014014.5(SNRNP200):c.983-10T>C
|
|
|
NM_014014.5(SNRNP200):c.983-13T>G
|
rs2104359143
|
|
NM_014014.5(SNRNP200):c.983-14T>G
|
|
|
NM_014014.5(SNRNP200):c.987A>G (p.Leu329=)
|
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|
NM_014014.5(SNRNP200):c.997T>G (p.Leu333Val)
|
|
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