ClinVar Miner

List of variants in gene SNRNP200 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 999
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HGVS dbSNP gnomAD frequency
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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 rs1487244457
NM_014014.5(SNRNP200):c.6093-7C>G rs201143866
NM_014014.5(SNRNP200):c.6097G>C (p.Gly2033Arg) rs752450131
NM_014014.5(SNRNP200):c.6104T>C (p.Val2035Ala)
NM_014014.5(SNRNP200):c.6108G>T (p.Val2036=) rs373253591
NM_014014.5(SNRNP200):c.6150T>A (p.Pro2050=)
NM_014014.5(SNRNP200):c.6151G>T (p.Val2051Phe) rs1684675880
NM_014014.5(SNRNP200):c.6168C>T (p.Phe2056=)
NM_014014.5(SNRNP200):c.6170C>T (p.Pro2057Leu)
NM_014014.5(SNRNP200):c.6174+13A>G
NM_014014.5(SNRNP200):c.6174+7C>T
NM_014014.5(SNRNP200):c.6175-2A>G
NM_014014.5(SNRNP200):c.6237C>T (p.Ile2079=)
NM_014014.5(SNRNP200):c.6240G>A (p.Lys2080=)
NM_014014.5(SNRNP200):c.6268-14C>T rs2104327201
NM_014014.5(SNRNP200):c.6268-5del rs1684632565
NM_014014.5(SNRNP200):c.6268-8C>T
NM_014014.5(SNRNP200):c.6274T>C (p.Leu2092=)
NM_014014.5(SNRNP200):c.6292G>A (p.Ala2098Thr)
NM_014014.5(SNRNP200):c.630+12A>G rs199521556
NM_014014.5(SNRNP200):c.630+14A>C
NM_014014.5(SNRNP200):c.631-10A>C
NM_014014.5(SNRNP200):c.631-17del rs781529204
NM_014014.5(SNRNP200):c.631-19G>A
NM_014014.5(SNRNP200):c.631-7T>G
NM_014014.5(SNRNP200):c.637G>A (p.Asp213Asn) rs1236495213
NM_014014.5(SNRNP200):c.6384A>G (p.Glu2128=) rs2104327041
NM_014014.5(SNRNP200):c.6387T>C (p.Ala2129=)
NM_014014.5(SNRNP200):c.6389A>G (p.Glu2130Gly) rs1489562732
NM_014014.5(SNRNP200):c.6397A>G (p.Ser2133Gly)
NM_014014.5(SNRNP200):c.6410G>C (p.Ter2137Ser) rs2104326981
NM_014014.5(SNRNP200):c.645C>T (p.Asp215=)
NM_014014.5(SNRNP200):c.662G>A (p.Arg221Gln) rs1574000471
NM_014014.5(SNRNP200):c.66A>G (p.Gln22=)
NM_014014.5(SNRNP200):c.687G>C (p.Met229Ile) rs1558771619
NM_014014.5(SNRNP200):c.697G>A (p.Glu233Lys)
NM_014014.5(SNRNP200):c.699G>T (p.Glu233Asp)
NM_014014.5(SNRNP200):c.706G>A (p.Val236Met) rs1202965081
NM_014014.5(SNRNP200):c.710G>A (p.Arg237His) rs1280340102
NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) rs2276647
NM_014014.5(SNRNP200):c.732C>G (p.Leu244=) rs199688602
NM_014014.5(SNRNP200):c.732C>T (p.Leu244=) rs199688602
NM_014014.5(SNRNP200):c.733G>C (p.Val245Leu)
NM_014014.5(SNRNP200):c.739T>G (p.Ser247Ala)
NM_014014.5(SNRNP200):c.744T>G (p.Gly248=) rs1574000215
NM_014014.5(SNRNP200):c.758C>G (p.Ser253Cys)
NM_014014.5(SNRNP200):c.783G>C (p.Arg261=) rs1574000170
NM_014014.5(SNRNP200):c.784G>A (p.Asp262Asn)
NM_014014.5(SNRNP200):c.795A>G (p.Ala265=)
NM_014014.5(SNRNP200):c.807G>A (p.Gln269=)
NM_014014.5(SNRNP200):c.81C>T (p.Leu27=) rs1209947874
NM_014014.5(SNRNP200):c.820C>T (p.Arg274Cys) rs778937829
NM_014014.5(SNRNP200):c.841G>C (p.Val281Leu)
NM_014014.5(SNRNP200):c.860A>T (p.Asp287Val) rs2063935656
NM_014014.5(SNRNP200):c.868T>C (p.Leu290=)
NM_014014.5(SNRNP200):c.879G>A (p.Leu293=) rs1320629705
NM_014014.5(SNRNP200):c.882+5G>A
NM_014014.5(SNRNP200):c.882+7C>T
NM_014014.5(SNRNP200):c.883-18G>A rs2104359422
NM_014014.5(SNRNP200):c.903A>G (p.Glu301=)
NM_014014.5(SNRNP200):c.924G>A (p.Leu308=) rs1358212967
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=)
NM_014014.5(SNRNP200):c.997T>G (p.Leu333Val)

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