ClinVar Miner

List of variants reported as uncertain significance for Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 888
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=) rs201160801 0.00029
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204 0.00022
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln) rs772603458 0.00022
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506 0.00014
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 0.00012
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg) rs755933899 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_025114.4(CEP290):c.3573+3A>G rs199520739 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp) rs771110294 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049 0.00006
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) rs201382524 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys) rs373414042 0.00005
NM_025114.4(CEP290):c.4186C>G (p.Gln1396Glu) rs1459653241 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr) rs376033047 0.00005
NM_025114.4(CEP290):c.1712-3T>C rs376688469 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala) rs969763835 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp) rs372321551 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.332G>A (p.Arg111Gln) rs562747993 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4132A>G (p.Ile1378Val) rs532041890 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val) rs762417751 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724 0.00004
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp) rs769370948 0.00004
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388 0.00004
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro) rs1006780282 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser) rs375523390 0.00003
NM_025114.4(CEP290):c.2367+4T>C rs1413934261 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.3664G>A (p.Glu1222Lys) rs770015278 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.4972A>G (p.Thr1658Ala) rs1237184267 0.00003
NM_025114.4(CEP290):c.5010A>C (p.Leu1670Phe) rs1264789609 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.534G>T (p.Gln178His) rs368025801 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_025114.4(CEP290):c.6820A>G (p.Met2274Val) rs1326611388 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr) rs1159836808 0.00003
NM_025114.4(CEP290):c.1094A>C (p.Lys365Thr) rs1250515491 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1288G>C (p.Ala430Pro) rs767366207 0.00002
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile) rs373303674 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile) rs1000099371 0.00002
NM_025114.4(CEP290):c.1756G>A (p.Gly586Arg) rs759047003 0.00002
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val) rs932362741 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu) rs1468626083 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg) rs772550529 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val) rs1427374639 0.00002
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His) rs774025278 0.00002
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val) rs564214956 0.00002
NM_025114.4(CEP290):c.4391T>C (p.Ile1464Thr) rs761761702 0.00002
NM_025114.4(CEP290):c.4394G>A (p.Arg1465Gln) rs576877716 0.00002
NM_025114.4(CEP290):c.5027A>G (p.His1676Arg) rs375246057 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu) rs955877363 0.00002
NM_025114.4(CEP290):c.5413C>T (p.Leu1805Phe) rs1366280320 0.00002
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly) rs1460898199 0.00002
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg) rs374752439 0.00002
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786 0.00002
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540 0.00002
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln) rs773459272 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.7083G>T (p.Gln2361His) rs201801456 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn) rs796540607 0.00002
NM_025114.4(CEP290):c.101A>T (p.Lys34Met) rs574089816 0.00001
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro) rs1429640081 0.00001
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys) rs753281190 0.00001
NM_025114.4(CEP290):c.1066-3T>C rs996569804 0.00001
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp) rs997653455 0.00001
NM_025114.4(CEP290):c.1150A>G (p.Ile384Val) rs375428355 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala) rs772026871 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1334_1339del (p.Leu445_Lys446del) rs1323191320 0.00001
NM_025114.4(CEP290):c.136G>A (p.Glu46Lys) rs1018550969 0.00001
NM_025114.4(CEP290):c.1430G>A (p.Arg477Gln) rs748917889 0.00001
NM_025114.4(CEP290):c.1484A>G (p.Asp495Gly) rs1228969929 0.00001
NM_025114.4(CEP290):c.1517G>A (p.Arg506His) rs866571949 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met) rs762272190 0.00001
NM_025114.4(CEP290):c.1646G>A (p.Arg549Gln) rs774824252 0.00001
NM_025114.4(CEP290):c.1665A>T (p.Lys555Asn) rs374824892 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser) rs761662102 0.00001
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr) rs776346956 0.00001
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr) rs772165172 0.00001
NM_025114.4(CEP290):c.1953G>A (p.Met651Ile) rs1402439930 0.00001
NM_025114.4(CEP290):c.1999G>A (p.Val667Ile) rs1374826842 0.00001
NM_025114.4(CEP290):c.2056A>G (p.Ile686Val) rs1189284598 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2131A>G (p.Arg711Gly) rs758037479 0.00001
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln) rs764117043 0.00001
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro) rs777365811 0.00001
NM_025114.4(CEP290):c.2329A>G (p.Ile777Val) rs2038667110 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2408A>G (p.Asp803Gly) rs927571972 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2587-3C>T rs759025964 0.00001
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu) rs2038321332 0.00001
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met) rs774079924 0.00001
NM_025114.4(CEP290):c.2756A>G (p.Asn919Ser) rs1489447514 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2909A>G (p.Asn970Ser) rs951200727 0.00001
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp) rs1265448566 0.00001
NM_025114.4(CEP290):c.2991G>A (p.Glu997=) rs2037995979 0.00001
NM_025114.4(CEP290):c.3016C>G (p.Gln1006Glu) rs1201691161 0.00001
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr) rs916545578 0.00001
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr) rs1421960607 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp) rs1051440600 0.00001
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser) rs373207132 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3557A>G (p.Gln1186Arg) rs920028502 0.00001
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys) rs753350609 0.00001
NM_025114.4(CEP290):c.3644C>T (p.Ala1215Val) rs1420933299 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 0.00001
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723 0.00001
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu) rs377156725 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.419A>G (p.Lys140Arg) rs750776051 0.00001
NM_025114.4(CEP290):c.4246C>T (p.Arg1416Cys) rs776812442 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His) rs749261915 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn) rs746106679 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4471G>A (p.Ala1491Thr) rs771133112 0.00001
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met) rs1328019408 0.00001
NM_025114.4(CEP290):c.4486C>A (p.Leu1496Met) rs1026690396 0.00001
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile) rs769989974 0.00001
NM_025114.4(CEP290):c.452G>A (p.Arg151Gln) rs753374614 0.00001
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr) rs1217427527 0.00001
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys) rs763605289 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg) rs751352443 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4813G>T (p.Asp1605Tyr) rs554863859 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.4936A>C (p.Lys1646Gln) rs1348715646 0.00001
NM_025114.4(CEP290):c.4948G>T (p.Asp1650Tyr) rs368057362 0.00001
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser) rs1064795491 0.00001
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala) rs1182703361 0.00001
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val) rs542400806 0.00001
NM_025114.4(CEP290):c.5218C>G (p.Gln1740Glu) rs936648881 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr) rs1565822715 0.00001
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser) rs776980750 0.00001
NM_025114.4(CEP290):c.5480A>C (p.Gln1827Pro) rs771657596 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5621T>C (p.Ile1874Thr) rs781335780 0.00001
NM_025114.4(CEP290):c.5707A>G (p.Lys1903Glu) rs878855334 0.00001
NM_025114.4(CEP290):c.5709+5G>A rs2035845308 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.5933G>A (p.Arg1978Gln) rs774881412 0.00001
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His) rs745998591 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 0.00001
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr) rs2034573032 0.00001
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr) rs527704077 0.00001
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr) rs1208196086 0.00001
NM_025114.4(CEP290):c.6357+3A>G rs777062671 0.00001
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu) rs752851135 0.00001
NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr) rs1319955144 0.00001
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr) rs535765861 0.00001
NM_025114.4(CEP290):c.6575A>G (p.Tyr2192Cys) rs1222842886 0.00001
NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr) rs768539400 0.00001
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly) rs779145328 0.00001
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 0.00001
NM_025114.4(CEP290):c.6645+6A>T rs765992358 0.00001
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln) rs1214939378 0.00001
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg) rs371397659 0.00001
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg) rs535571590 0.00001
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met) rs1355908667 0.00001
NM_025114.4(CEP290):c.6818+5G>A rs935214183 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg) rs1424407266 0.00001
NM_025114.4(CEP290):c.7035A>G (p.Arg2345=) rs760964107 0.00001
NM_025114.4(CEP290):c.7082A>G (p.Gln2361Arg) rs766016762 0.00001
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met) rs770168358 0.00001
NM_025114.4(CEP290):c.7210-16A>G rs762987255 0.00001
NM_025114.4(CEP290):c.7213G>A (p.Glu2405Lys) rs1393659962 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00001
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys) rs1233939358 0.00001
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys) rs949161264 0.00001
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681 0.00001
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile) rs756042946 0.00001
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly) rs762238709 0.00001
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00001
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) rs794727762 0.00001
NM_025114.4(CEP290):c.772A>C (p.Asn258His) rs979378806 0.00001
NM_025114.4(CEP290):c.784G>A (p.Ala262Thr) rs1331352301 0.00001
NM_025114.4(CEP290):c.787A>G (p.Ile263Val) rs1477583890 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025114.4(CEP290):c.838C>T (p.His280Tyr) rs575493480 0.00001
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly) rs958209779 0.00001
NC_000012.11:g.(?_88442955)_(88449500_?)dup
NC_000012.11:g.(?_88442961)_(88449494_?)dup
NC_000012.11:g.(?_88532902)_(88533361_?)del
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.4(CEP290):c.1004G>A (p.Arg335Lys)
NM_025114.4(CEP290):c.100A>C (p.Lys34Gln)
NM_025114.4(CEP290):c.1025A>G (p.Gln342Arg) rs2138022289
NM_025114.4(CEP290):c.1052T>C (p.Met351Thr) rs1415965131
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser)
NM_025114.4(CEP290):c.1067G>A (p.Gly356Asp) rs1403887401
NM_025114.4(CEP290):c.1069A>C (p.Ile357Leu) rs2138003595
NM_025114.4(CEP290):c.1069A>G (p.Ile357Val)
NM_025114.4(CEP290):c.1082A>G (p.Asp361Gly)
NM_025114.4(CEP290):c.1083C>A (p.Asp361Glu)
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile)
NM_025114.4(CEP290):c.1108C>G (p.Gln370Glu) rs2039663676
NM_025114.4(CEP290):c.1111G>A (p.Val371Ile) rs2138002338
NM_025114.4(CEP290):c.1117C>A (p.Gln373Lys)
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1166A>T (p.Lys389Ile) rs2138000943
NM_025114.4(CEP290):c.1172A>G (p.Glu391Gly)
NM_025114.4(CEP290):c.1190-8C>G rs764602507
NM_025114.4(CEP290):c.1195T>G (p.Ser399Ala)
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1205C>G (p.Ser402Cys) rs2137920983
NM_025114.4(CEP290):c.1217_1218delinsTC (p.His406Leu) rs2137920625
NM_025114.4(CEP290):c.1229A>G (p.Gln410Arg)
NM_025114.4(CEP290):c.1240G>A (p.Asp414Asn)
NM_025114.4(CEP290):c.1268C>A (p.Ala423Asp)
NM_025114.4(CEP290):c.1280C>T (p.Ala427Val) rs2039369004
NM_025114.4(CEP290):c.1297G>A (p.Asp433Asn)
NM_025114.4(CEP290):c.1306G>A (p.Glu436Lys)
NM_025114.4(CEP290):c.1307A>G (p.Glu436Gly) rs2039366661
NM_025114.4(CEP290):c.1313A>G (p.Asp438Gly) rs2137917175
NM_025114.4(CEP290):c.1325T>A (p.Val442Asp)
NM_025114.4(CEP290):c.1358C>T (p.Ser453Leu) rs772635605
NM_025114.4(CEP290):c.1359+2dup
NM_025114.4(CEP290):c.135A>C (p.Gln45His) rs2138298764
NM_025114.4(CEP290):c.1390G>C (p.Glu464Gln) rs1437841365
NM_025114.4(CEP290):c.13A>T (p.Ile5Leu)
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr)
NM_025114.4(CEP290):c.1405A>G (p.Lys469Glu)
NM_025114.4(CEP290):c.1436T>C (p.Ile479Thr)
NM_025114.4(CEP290):c.1471T>A (p.Leu491Met)
NM_025114.4(CEP290):c.147A>G (p.Ile49Met)
NM_025114.4(CEP290):c.1493A>T (p.Asp498Val) rs2039315374
NM_025114.4(CEP290):c.149A>G (p.His50Arg) rs2138298302
NM_025114.4(CEP290):c.1504G>A (p.Ala502Thr) rs1035966537
NM_025114.4(CEP290):c.1508T>G (p.Leu503Arg) rs761301690
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1523G>A (p.Gly508Asp) rs2039227577
NM_025114.4(CEP290):c.1564A>C (p.Asn522His)
NM_025114.4(CEP290):c.1565A>G (p.Asn522Ser) rs751732097
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg) rs1390141039
NM_025114.4(CEP290):c.1590G>C (p.Gln530His) rs766779533
NM_025114.4(CEP290):c.1596A>C (p.Arg532Ser) rs770310236
NM_025114.4(CEP290):c.1597G>T (p.Ala533Ser)
NM_025114.4(CEP290):c.1600G>A (p.Glu534Lys)
NM_025114.4(CEP290):c.1615T>G (p.Leu539Val) rs2137873551
NM_025114.4(CEP290):c.1625T>C (p.Ile542Thr) rs1180698614
NM_025114.4(CEP290):c.1636G>C (p.Glu546Gln) rs373498346
NM_025114.4(CEP290):c.1644A>C (p.Glu548Asp)
NM_025114.4(CEP290):c.1646G>T (p.Arg549Leu)
NM_025114.4(CEP290):c.1648C>T (p.Leu550Phe) rs2039207431
NM_025114.4(CEP290):c.1654C>A (p.Leu552Met)
NM_025114.4(CEP290):c.1664A>T (p.Lys555Ile)
NM_025114.4(CEP290):c.1672C>G (p.Gln558Glu)
NM_025114.4(CEP290):c.1710A>C (p.Ser570=) rs2137866803
NM_025114.4(CEP290):c.1721C>G (p.Thr574Ser)
NM_025114.4(CEP290):c.1741G>A (p.Glu581Lys) rs2039101381
NM_025114.4(CEP290):c.1757G>A (p.Gly586Glu)
NM_025114.4(CEP290):c.1767A>G (p.Ile589Met)
NM_025114.4(CEP290):c.1769G>C (p.Ser590Thr)
NM_025114.4(CEP290):c.1781T>C (p.Leu594Ser) rs371496675
NM_025114.4(CEP290):c.1782G>T (p.Leu594Phe) rs1283118657
NM_025114.4(CEP290):c.180+11A>G rs2138296866
NM_025114.4(CEP290):c.1801A>G (p.Asn601Asp)
NM_025114.4(CEP290):c.1862G>C (p.Arg621Thr)
NM_025114.4(CEP290):c.188C>T (p.Ala63Val) rs769705891
NM_025114.4(CEP290):c.1908A>G (p.Lys636=)
NM_025114.4(CEP290):c.191AAG[1] (p.Glu65del) rs1312256490
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.1926A>T (p.Glu642Asp)
NM_025114.4(CEP290):c.1970C>A (p.Ala657Glu) rs2038920051
NM_025114.4(CEP290):c.1972A>G (p.Ile658Val) rs2038919900
NM_025114.4(CEP290):c.1982T>G (p.Met661Arg) rs2137781691
NM_025114.4(CEP290):c.1987A>G (p.Lys663Glu)
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile) rs2038915965
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr) rs2038714969
NM_025114.4(CEP290):c.2058A>G (p.Ile686Met)
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val) rs200454865
NM_025114.4(CEP290):c.2092A>C (p.Ser698Arg)
NM_025114.4(CEP290):c.2099A>G (p.His700Arg)
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg)
NM_025114.4(CEP290):c.2132G>C (p.Arg711Thr)
NM_025114.4(CEP290):c.216A>T (p.Glu72Asp)
NM_025114.4(CEP290):c.2173G>A (p.Glu725Lys)
NM_025114.4(CEP290):c.2177C>T (p.Ala726Val) rs1592608053
NM_025114.4(CEP290):c.2179A>G (p.Ile727Val)
NM_025114.4(CEP290):c.2180T>C (p.Ile727Thr) rs2137721924
NM_025114.4(CEP290):c.2186A>T (p.Tyr729Phe)
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2217+3G>C rs765291878
NM_025114.4(CEP290):c.2217+5G>T
NM_025114.4(CEP290):c.2218A>T (p.Ile740Leu) rs754736974
NM_025114.4(CEP290):c.2227C>T (p.Leu743Phe)
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln) rs1360220092
NM_025114.4(CEP290):c.2267_2268inv (p.Ser756Leu)
NM_025114.4(CEP290):c.2276T>G (p.Val759Gly) rs2038671061
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2296C>A (p.Pro766Thr)
NM_025114.4(CEP290):c.2315C>A (p.Ser772Tyr) rs2137709342
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2321C>G (p.Ala774Gly)
NM_025114.4(CEP290):c.2332_2334del (p.Asn778del) rs2038666741
NM_025114.4(CEP290):c.2365C>A (p.Gln789Lys) rs2137707386
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del) rs2038499476
NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys)
NM_025114.4(CEP290):c.2435T>A (p.Phe812Tyr) rs2038494496
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2447G>C (p.Arg816Pro) rs768448895
NM_025114.4(CEP290):c.2447G>T (p.Arg816Leu) rs768448895
NM_025114.4(CEP290):c.2450A>G (p.His817Arg) rs1251392498
NM_025114.4(CEP290):c.2451T>A (p.His817Gln) rs2038492778
NM_025114.4(CEP290):c.2455C>A (p.Gln819Lys) rs2137662565
NM_025114.4(CEP290):c.2459G>A (p.Ser820Asn)
NM_025114.4(CEP290):c.2468A>G (p.Tyr823Cys) rs2137662247
NM_025114.4(CEP290):c.246A>C (p.Lys82Asn)
NM_025114.4(CEP290):c.2482A>T (p.Ser828Cys)
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.249T>C (p.Phe83=)
NM_025114.4(CEP290):c.2515A>G (p.Thr839Ala) rs1227513489
NM_025114.4(CEP290):c.2518A>T (p.Ile840Leu)
NM_025114.4(CEP290):c.2526G>T (p.Glu842Asp)
NM_025114.4(CEP290):c.2536A>G (p.Lys846Glu) rs2137623175
NM_025114.4(CEP290):c.2545G>C (p.Asp849His) rs1565877637
NM_025114.4(CEP290):c.2566A>G (p.Ile856Val)
NM_025114.4(CEP290):c.256C>A (p.Gln86Lys) rs1004064531
NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser)
NM_025114.4(CEP290):c.2600C>T (p.Ala867Val) rs2038321746
NM_025114.4(CEP290):c.2602C>T (p.Leu868Phe)
NM_025114.4(CEP290):c.2608A>G (p.Met870Val)
NM_025114.4(CEP290):c.2618A>T (p.Asp873Val)
NM_025114.4(CEP290):c.2621A>T (p.Glu874Val)
NM_025114.4(CEP290):c.2623A>G (p.Met875Val)
NM_025114.4(CEP290):c.2646TAG[1] (p.Ser883del)
NM_025114.4(CEP290):c.2681A>T (p.Lys894Ile) rs2137616560
NM_025114.4(CEP290):c.2694G>C (p.Arg898Ser) rs2038314186
NM_025114.4(CEP290):c.2704A>T (p.Thr902Ser) rs1353471879
NM_025114.4(CEP290):c.2713G>A (p.Glu905Lys)
NM_025114.4(CEP290):c.2723G>A (p.Arg908Gln)
NM_025114.4(CEP290):c.2728C>T (p.Leu910Phe) rs375348494
NM_025114.4(CEP290):c.2750A>C (p.Gln917Pro)
NM_025114.4(CEP290):c.2776G>C (p.Ala926Pro)
NM_025114.4(CEP290):c.2781A>G (p.Glu927=) rs2137612847
NM_025114.4(CEP290):c.2782G>C (p.Val928Leu)
NM_025114.4(CEP290):c.2785T>A (p.Cys929Ser) rs770836483
NM_025114.4(CEP290):c.2813T>C (p.Phe938Ser)
NM_025114.4(CEP290):c.2821A>G (p.Met941Val) rs2038012227
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2884C>A (p.Leu962Ile)
NM_025114.4(CEP290):c.2901A>T (p.Lys967Asn)
NM_025114.4(CEP290):c.2911G>A (p.Glu971Lys) rs780805963
NM_025114.4(CEP290):c.291A>T (p.Glu97Asp) rs757402765
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.2929A>G (p.Arg977Gly) rs765840717
NM_025114.4(CEP290):c.2932G>T (p.Asp978Tyr) rs2137541060
NM_025114.4(CEP290):c.2933A>G (p.Asp978Gly) rs758309007
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile) rs2037998907
NM_025114.4(CEP290):c.2953A>G (p.Met985Val) rs1160930595
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile) rs2037998320
NM_025114.4(CEP290):c.2975A>G (p.Asn992Ser) rs2137539633
NM_025114.4(CEP290):c.2983C>T (p.His995Tyr) rs2137539514
NM_025114.4(CEP290):c.2991+3A>C
NM_025114.4(CEP290):c.2992T>G (p.Cys998Gly) rs2037480137
NM_025114.4(CEP290):c.3013G>C (p.Glu1005Gln) rs2037478393
NM_025114.4(CEP290):c.3014A>G (p.Glu1005Gly)
NM_025114.4(CEP290):c.3019G>A (p.Val1007Met) rs2137425726
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3037G>A (p.Glu1013Lys)
NM_025114.4(CEP290):c.305A>G (p.Gln102Arg)
NM_025114.4(CEP290):c.3070A>G (p.Ile1024Val)
NM_025114.4(CEP290):c.3082T>G (p.Trp1028Gly) rs2037472723
NM_025114.4(CEP290):c.3103G>T (p.Gly1035Cys) rs1195864585
NM_025114.4(CEP290):c.3104-5T>A rs1302558061
NM_025114.4(CEP290):c.3111A>T (p.Glu1037Asp)
NM_025114.4(CEP290):c.3115A>C (p.Ser1039Arg) rs2037241839
NM_025114.4(CEP290):c.3116G>A (p.Ser1039Asn)
NM_025114.4(CEP290):c.3121G>A (p.Asp1041Asn)
NM_025114.4(CEP290):c.3130A>G (p.Lys1044Glu)
NM_025114.4(CEP290):c.3132G>T (p.Lys1044Asn) rs762342726
NM_025114.4(CEP290):c.3139A>G (p.Ile1047Val) rs2137368973
NM_025114.4(CEP290):c.3148A>C (p.Ser1050Arg) rs1240996430
NM_025114.4(CEP290):c.3161C>T (p.Ser1054Phe)
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175A>C (p.Ile1059Leu)
NM_025114.4(CEP290):c.3175A>G (p.Ile1059Val) rs771815959
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val) rs1201486566
NM_025114.4(CEP290):c.3198A>T (p.Glu1066Asp)
NM_025114.4(CEP290):c.3214C>T (p.Arg1072Trp)
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln) rs1298561837
NM_025114.4(CEP290):c.3235A>C (p.Met1079Leu)
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys) rs902039539
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.3253A>G (p.Thr1085Ala)
NM_025114.4(CEP290):c.3278G>C (p.Arg1093Pro) rs1049569883
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala) rs750018041
NM_025114.4(CEP290):c.3291G>A (p.Leu1097=) rs2037221962
NM_025114.4(CEP290):c.3304G>A (p.Ala1102Thr)
NM_025114.4(CEP290):c.3313A>C (p.Thr1105Pro) rs772886007
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr) rs780796789
NM_025114.4(CEP290):c.3351G>A (p.Met1117Ile) rs2037147645
NM_025114.4(CEP290):c.3352T>G (p.Leu1118Val)
NM_025114.4(CEP290):c.3359A>G (p.Asp1120Gly)
NM_025114.4(CEP290):c.3375T>A (p.Ser1125Arg)
NM_025114.4(CEP290):c.3380G>A (p.Ser1127Asn) rs757526726
NM_025114.4(CEP290):c.3398C>T (p.Ala1133Val)
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.3418G>C (p.Glu1140Gln)
NM_025114.4(CEP290):c.3431A>G (p.Asn1144Ser) rs2137341520
NM_025114.4(CEP290):c.3432_3434dup (p.Asn1144_Glu1145insAsp) rs2137341409
NM_025114.4(CEP290):c.3448G>A (p.Val1150Ile) rs2137340972
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala) rs2037141100
NM_025114.4(CEP290):c.345T>A (p.Asn115Lys)
NM_025114.4(CEP290):c.3460A>G (p.Lys1154Glu) rs753136596
NM_025114.4(CEP290):c.3461A>C (p.Lys1154Thr) rs1050202680
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe) rs2036979298
NM_025114.4(CEP290):c.3482T>C (p.Ile1161Thr)
NM_025114.4(CEP290):c.3497T>G (p.Val1166Gly)
NM_025114.4(CEP290):c.3499G>C (p.Glu1167Gln)
NM_025114.4(CEP290):c.3512C>G (p.Ala1171Gly) rs1183095802
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys)
NM_025114.4(CEP290):c.3533A>G (p.Lys1178Arg) rs2137303115
NM_025114.4(CEP290):c.3539T>C (p.Val1180Ala)
NM_025114.4(CEP290):c.3542A>G (p.Glu1181Gly) rs1402260550
NM_025114.4(CEP290):c.3545C>A (p.Ser1182Tyr)
NM_025114.4(CEP290):c.3553A>G (p.Met1185Val)
NM_025114.4(CEP290):c.3558A>C (p.Gln1186His) rs1189042096
NM_025114.4(CEP290):c.3572A>G (p.Gln1191Arg)
NM_025114.4(CEP290):c.3573+5G>A rs974204266
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3617A>G (p.His1206Arg)
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.362A>G (p.Glu121Gly) rs2040372439
NM_025114.4(CEP290):c.3638G>C (p.Ser1213Thr)
NM_025114.4(CEP290):c.3643G>A (p.Ala1215Thr)
NM_025114.4(CEP290):c.3650C>T (p.Ala1217Val)
NM_025114.4(CEP290):c.3677C>T (p.Ser1226Phe)
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val) rs1282211647
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile)
NM_025114.4(CEP290):c.3697G>A (p.Ala1233Thr)
NM_025114.4(CEP290):c.3704A>G (p.Asn1235Ser) rs1344828907
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu) rs7307793
NM_025114.4(CEP290):c.3722A>G (p.Lys1241Arg)
NM_025114.4(CEP290):c.3733_3735del (p.Lys1245del) rs2137277006
NM_025114.4(CEP290):c.373G>A (p.Glu125Lys)
NM_025114.4(CEP290):c.3745C>T (p.Leu1249Phe)
NM_025114.4(CEP290):c.376C>A (p.Gln126Lys)
NM_025114.4(CEP290):c.377A>T (p.Gln126Leu) rs748429036
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu)
NM_025114.4(CEP290):c.379A>C (p.Lys127Gln) rs781101346
NM_025114.4(CEP290):c.3815G>A (p.Arg1272Gln)
NM_025114.4(CEP290):c.3818A>G (p.Gln1273Arg)
NM_025114.4(CEP290):c.3823A>G (p.Ser1275Gly)
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.382G>C (p.Asp128His)
NM_025114.4(CEP290):c.382G>T (p.Asp128Tyr) rs755112866
NM_025114.4(CEP290):c.3830C>T (p.Ala1277Val)
NM_025114.4(CEP290):c.3838_3840dup (p.Leu1280_Ala1281insLeu)
NM_025114.4(CEP290):c.385A>G (p.Arg129Gly) rs2138214415
NM_025114.4(CEP290):c.3860C>T (p.Ser1287Phe)
NM_025114.4(CEP290):c.389A>G (p.Glu130Gly)
NM_025114.4(CEP290):c.38T>A (p.Val13Asp)
NM_025114.4(CEP290):c.3925C>G (p.Gln1309Glu)
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp)
NM_025114.4(CEP290):c.3938A>T (p.Asn1313Ile)
NM_025114.4(CEP290):c.3948C>G (p.Asn1316Lys) rs1361449401
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.3951_3977del (p.Thr1318_Lys1326del)
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val) rs959651787
NM_025114.4(CEP290):c.4006A>G (p.Lys1336Glu) rs2036809812
NM_025114.4(CEP290):c.4037A>G (p.Asn1346Ser)
NM_025114.4(CEP290):c.4043A>G (p.His1348Arg)
NM_025114.4(CEP290):c.4054GAA[1] (p.Glu1353del) rs2036719008
NM_025114.4(CEP290):c.4088G>T (p.Arg1363Leu)
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly) rs1270381017
NM_025114.4(CEP290):c.40G>A (p.Asp14Asn) rs769179397
NM_025114.4(CEP290):c.4102G>T (p.Asp1368Tyr) rs184143186
NM_025114.4(CEP290):c.4142A>C (p.Glu1381Ala)
NM_025114.4(CEP290):c.4175A>T (p.Glu1392Val) rs2137248175
NM_025114.4(CEP290):c.4187A>G (p.Gln1396Arg)
NM_025114.4(CEP290):c.4194+5T>G
NM_025114.4(CEP290):c.4215G>A (p.Met1405Ile) rs797045457
NM_025114.4(CEP290):c.4239C>A (p.Asp1413Glu)
NM_025114.4(CEP290):c.4267C>T (p.Arg1423Cys)
NM_025114.4(CEP290):c.4276A>C (p.Asn1426His)
NM_025114.4(CEP290):c.4286T>A (p.Leu1429Gln) rs2137218717
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.434A>G (p.Asn145Ser)
NM_025114.4(CEP290):c.4358T>C (p.Leu1453Pro)
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr) rs375111436
NM_025114.4(CEP290):c.4373G>C (p.Arg1458Thr)
NM_025114.4(CEP290):c.4415C>A (p.Ala1472Glu)
NM_025114.4(CEP290):c.4454A>C (p.Glu1485Ala)
NM_025114.4(CEP290):c.448C>T (p.Leu150Phe)
NM_025114.4(CEP290):c.4496A>T (p.Asp1499Val) rs2036455482
NM_025114.4(CEP290):c.4507A>C (p.Asn1503His)
NM_025114.4(CEP290):c.4517G>C (p.Arg1506Thr) rs1266234548
NM_025114.4(CEP290):c.4547A>G (p.Glu1516Gly) rs367941106
NM_025114.4(CEP290):c.454A>G (p.Asn152Asp)
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4586C>G (p.Pro1529Arg) rs759438587
NM_025114.4(CEP290):c.4600A>C (p.Thr1534Pro) rs2036443574
NM_025114.4(CEP290):c.4604T>C (p.Leu1535Ser) rs2137184439
NM_025114.4(CEP290):c.4614_4615delinsCT (p.His1539Tyr)
NM_025114.4(CEP290):c.4619A>C (p.Gln1540Pro)
NM_025114.4(CEP290):c.4619A>G (p.Gln1540Arg)
NM_025114.4(CEP290):c.4628C>T (p.Ala1543Val) rs2036441054
NM_025114.4(CEP290):c.4638A>T (p.Gln1546His)
NM_025114.4(CEP290):c.463G>A (p.Ala155Thr) rs2138114070
NM_025114.4(CEP290):c.4651C>A (p.Gln1551Lys)
NM_025114.4(CEP290):c.4674G>T (p.Lys1558Asn)
NM_025114.4(CEP290):c.4676A>G (p.Tyr1559Cys)
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4682G>C (p.Arg1561Pro)
NM_025114.4(CEP290):c.4693A>G (p.Lys1565Glu)
NM_025114.4(CEP290):c.46G>C (p.Asp16His) rs2040641439
NM_025114.4(CEP290):c.4700G>C (p.Arg1567Thr)
NM_025114.4(CEP290):c.4704+3A>G
NM_025114.4(CEP290):c.4705G>A (p.Glu1569Lys) rs2137170285
NM_025114.4(CEP290):c.4717A>T (p.Ile1573Phe)
NM_025114.4(CEP290):c.4726A>G (p.Lys1576Glu) rs1203769698
NM_025114.4(CEP290):c.4745A>G (p.His1582Arg)
NM_025114.4(CEP290):c.4790A>G (p.Asn1597Ser) rs1352598713
NM_025114.4(CEP290):c.4795T>C (p.Phe1599Leu)
NM_025114.4(CEP290):c.4812G>T (p.Trp1604Cys)
NM_025114.4(CEP290):c.4819A>T (p.Met1607Leu)
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu)
NM_025114.4(CEP290):c.4840G>T (p.Val1614Phe)
NM_025114.4(CEP290):c.4844C>G (p.Pro1615Arg)
NM_025114.4(CEP290):c.4877T>C (p.Met1626Thr) rs1413188289
NM_025114.4(CEP290):c.4882C>A (p.Gln1628Lys)
NM_025114.4(CEP290):c.4888G>A (p.Val1630Ile) rs2036315177
NM_025114.4(CEP290):c.4894G>A (p.Glu1632Lys) rs916470951
NM_025114.4(CEP290):c.4910T>C (p.Leu1637Pro)
NM_025114.4(CEP290):c.4923G>T (p.Leu1641Phe)
NM_025114.4(CEP290):c.4931T>A (p.Leu1644Gln) rs763470977
NM_025114.4(CEP290):c.4986A>G (p.Val1662=)
NM_025114.4(CEP290):c.4995T>G (p.Phe1665Leu)
NM_025114.4(CEP290):c.4997A>G (p.Glu1666Gly) rs566018288
NM_025114.4(CEP290):c.5012+5G>A
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His) rs1173154577
NM_025114.4(CEP290):c.5027A>T (p.His1676Leu)
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5032G>C (p.Asp1678His)
NM_025114.4(CEP290):c.5033A>T (p.Asp1678Val) rs1174731379
NM_025114.4(CEP290):c.5056G>A (p.Glu1686Lys)
NM_025114.4(CEP290):c.5057A>G (p.Glu1686Gly)
NM_025114.4(CEP290):c.5070A>C (p.Leu1690Phe)
NM_025114.4(CEP290):c.5075A>G (p.Tyr1692Cys) rs1565827486
NM_025114.4(CEP290):c.5083G>T (p.Asp1695Tyr) rs1209477107
NM_025114.4(CEP290):c.5086C>G (p.Gln1696Glu) rs2036106218
NM_025114.4(CEP290):c.5101T>C (p.Ser1701Pro)
NM_025114.4(CEP290):c.5134A>G (p.Lys1712Glu) rs1241267572
NM_025114.4(CEP290):c.5143A>G (p.Asn1715Asp) rs1565827241
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.4(CEP290):c.5159C>G (p.Thr1720Arg)
NM_025114.4(CEP290):c.5203G>A (p.Ala1735Thr) rs2036093152
NM_025114.4(CEP290):c.5204C>T (p.Ala1735Val) rs1311947993
NM_025114.4(CEP290):c.5218_5226del (p.Gln1740_Lys1742del)
NM_025114.4(CEP290):c.5219A>C (p.Gln1740Pro)
NM_025114.4(CEP290):c.5225A>G (p.Lys1742Arg)
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5230C>T (p.Leu1744Phe)
NM_025114.4(CEP290):c.5263A>G (p.Met1755Val)
NM_025114.4(CEP290):c.5282A>G (p.Glu1761Gly)
NM_025114.4(CEP290):c.5287A>C (p.Ile1763Leu)
NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala)
NM_025114.4(CEP290):c.530G>T (p.Cys177Phe)
NM_025114.4(CEP290):c.5324A>G (p.Asn1775Ser) rs527586777
NM_025114.4(CEP290):c.5341G>A (p.Asp1781Asn)
NM_025114.4(CEP290):c.5343T>G (p.Asp1781Glu)
NM_025114.4(CEP290):c.5345G>A (p.Arg1782Gln)
NM_025114.4(CEP290):c.5364+3G>A
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile) rs2035901966
NM_025114.4(CEP290):c.5387A>C (p.Glu1796Ala) rs2137060627
NM_025114.4(CEP290):c.5392C>G (p.Leu1798Val)
NM_025114.4(CEP290):c.5428A>G (p.Asn1810Asp) rs1351470304
NM_025114.4(CEP290):c.5432G>A (p.Arg1811Lys)
NM_025114.4(CEP290):c.5468A>G (p.Asn1823Ser)
NM_025114.4(CEP290):c.5483A>G (p.Lys1828Arg)
NM_025114.4(CEP290):c.5507T>C (p.Ile1836Thr)
NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val)
NM_025114.4(CEP290):c.5549T>C (p.Leu1850Pro) rs1176131735
NM_025114.4(CEP290):c.5564_5566del (p.Lys1855del)
NM_025114.4(CEP290):c.5573C>T (p.Thr1858Ile)
NM_025114.4(CEP290):c.5576G>A (p.Ser1859Asn) rs2137056432
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg) rs2035881706
NM_025114.4(CEP290):c.5583A>C (p.Leu1861Phe)
NM_025114.4(CEP290):c.5586+8_5586+9insGATTACAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_025114.4(CEP290):c.5599A>G (p.Thr1867Ala)
NM_025114.4(CEP290):c.5605A>C (p.Asn1869His)
NM_025114.4(CEP290):c.560T>C (p.Ile187Thr)
NM_025114.4(CEP290):c.5648A>C (p.Lys1883Thr)
NM_025114.4(CEP290):c.5659C>A (p.Gln1887Lys)
NM_025114.4(CEP290):c.5684T>C (p.Val1895Ala)
NM_025114.4(CEP290):c.5698A>G (p.Met1900Val) rs1415835597
NM_025114.4(CEP290):c.569A>G (p.Gln190Arg) rs2039990572
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5790A>C (p.Lys1930Asn)
NM_025114.4(CEP290):c.5801G>A (p.Gly1934Glu)
NM_025114.4(CEP290):c.5803G>A (p.Glu1935Lys)
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5810T>C (p.Phe1937Ser) rs2035398253
NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile) rs2035397823
NM_025114.4(CEP290):c.5824C>A (p.Gln1942Lys)
NM_025114.4(CEP290):c.5825A>G (p.Gln1942Arg)
NM_025114.4(CEP290):c.5830A>T (p.Asn1944Tyr) rs1014034003
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly) rs2035394009
NM_025114.4(CEP290):c.5873T>C (p.Leu1958Pro) rs2136957996
NM_025114.4(CEP290):c.5899A>G (p.Thr1967Ala)
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys) rs779867970
NM_025114.4(CEP290):c.5911G>C (p.Val1971Leu) rs2035364656
NM_025114.4(CEP290):c.5927G>A (p.Gly1976Glu) rs2136956748
NM_025114.4(CEP290):c.5932C>G (p.Arg1978Gly) rs371525247
NM_025114.4(CEP290):c.5944T>A (p.Ser1982Thr) rs2035360147
NM_025114.4(CEP290):c.5962G>A (p.Glu1988Lys)
NM_025114.4(CEP290):c.5967A>T (p.Leu1989Phe)
NM_025114.4(CEP290):c.5969A>G (p.Lys1990Arg)
NM_025114.4(CEP290):c.5986T>G (p.Leu1996Val)
NM_025114.4(CEP290):c.5995G>C (p.Asp1999His) rs2136955385
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr) rs1592782496
NM_025114.4(CEP290):c.6012G>A (p.Arg2004=) rs2136913860
NM_025114.4(CEP290):c.6032G>A (p.Arg2011Gln)
NM_025114.4(CEP290):c.6037T>C (p.Ser2013Pro) rs2136913105
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) rs2136913105
NM_025114.4(CEP290):c.6045AGA[1] (p.Glu2016del) rs1481875615
NM_025114.4(CEP290):c.6062A>C (p.Gln2021Pro)
NM_025114.4(CEP290):c.6065A>G (p.Asn2022Ser) rs1283291449
NM_025114.4(CEP290):c.6067A>G (p.Arg2023Gly)
NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg)
NM_025114.4(CEP290):c.6105G>C (p.Gln2035His)
NM_025114.4(CEP290):c.6130C>T (p.Pro2044Ser) rs750159998
NM_025114.4(CEP290):c.6134C>T (p.Ser2045Leu)
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=) rs2035114777
NM_025114.4(CEP290):c.6136A>G (p.Ile2046Val)
NM_025114.4(CEP290):c.613C>G (p.Arg205Gly)
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln)
NM_025114.4(CEP290):c.6163T>G (p.Cys2055Gly) rs2136814953
NM_025114.4(CEP290):c.6200A>G (p.Lys2067Arg)
NM_025114.4(CEP290):c.620A>G (p.Gln207Arg) rs2138095264
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.6223C>G (p.Leu2075Val)
NM_025114.4(CEP290):c.6228A>T (p.Lys2076Asn) rs2136813251
NM_025114.4(CEP290):c.6254A>T (p.Asp2085Val) rs774510171
NM_025114.4(CEP290):c.6264A>G (p.Arg2088=) rs2136812129
NM_025114.4(CEP290):c.6269A>G (p.Lys2090Arg)
NM_025114.4(CEP290):c.6297G>T (p.Met2099Ile) rs753507165
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr) rs1274778299
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr)
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del) rs749826807
NM_025114.4(CEP290):c.6347A>G (p.His2116Arg)
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser) rs762397066
NM_025114.4(CEP290):c.6358-17_6358-10del
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg)
NM_025114.4(CEP290):c.6388C>A (p.Leu2130Met) rs1178627897
NM_025114.4(CEP290):c.6398C>A (p.Thr2133Asn) rs775860198
NM_025114.4(CEP290):c.6421G>A (p.Val2141Ile) rs2136751097
NM_025114.4(CEP290):c.6433C>G (p.Gln2145Glu) rs747203539
NM_025114.4(CEP290):c.6435G>T (p.Gln2145His) rs1308226735
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys)
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.6461C>A (p.Ala2154Glu)
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile) rs1017249180
NM_025114.4(CEP290):c.6497T>C (p.Ile2166Thr)
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6505G>A (p.Glu2169Lys) rs2136748183
NM_025114.4(CEP290):c.6510T>A (p.Asn2170Lys)
NM_025114.4(CEP290):c.6538C>T (p.Leu2180Phe) rs1381853150
NM_025114.4(CEP290):c.653A>G (p.Tyr218Cys)
NM_025114.4(CEP290):c.6541A>G (p.Lys2181Glu)
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro) rs2034340081
NM_025114.4(CEP290):c.6553G>C (p.Gly2185Arg)
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6572A>G (p.His2191Arg) rs368428115
NM_025114.4(CEP290):c.6592G>T (p.Gly2198Cys)
NM_025114.4(CEP290):c.6595A>T (p.Thr2199Ser)
NM_025114.4(CEP290):c.6644A>T (p.Lys2215Ile)
NM_025114.4(CEP290):c.6645+4T>A
NM_025114.4(CEP290):c.6649A>G (p.Thr2217Ala)
NM_025114.4(CEP290):c.6653A>G (p.Asp2218Gly) rs2136706903
NM_025114.4(CEP290):c.6662A>C (p.Glu2221Ala)
NM_025114.4(CEP290):c.6670C>T (p.Arg2224Trp)
NM_025114.4(CEP290):c.667C>G (p.Gln223Glu) rs2138093804
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys)
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser) rs2034240934
NM_025114.4(CEP290):c.6734G>A (p.Gly2245Asp) rs766640788
NM_025114.4(CEP290):c.6750T>G (p.Phe2250Leu)
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.4(CEP290):c.6776A>C (p.Glu2259Ala)
NM_025114.4(CEP290):c.6805A>G (p.Ile2269Val)
NM_025114.4(CEP290):c.6823T>G (p.Tyr2275Asp)
NM_025114.4(CEP290):c.6824A>T (p.Tyr2275Phe)
NM_025114.4(CEP290):c.6841G>A (p.Glu2281Lys)
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val) rs2033943524
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys) rs2136656424
NM_025114.4(CEP290):c.6869A>G (p.Asn2290Ser) rs2033940025
NM_025114.4(CEP290):c.6875G>C (p.Ser2292Thr)
NM_025114.4(CEP290):c.6876C>G (p.Ser2292Arg) rs538590274
NM_025114.4(CEP290):c.6892C>G (p.Gln2298Glu)
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) rs1337960015
NM_025114.4(CEP290):c.6895C>T (p.Leu2299Phe)
NM_025114.4(CEP290):c.6917G>A (p.Arg2306Lys) rs1772781673
NM_025114.4(CEP290):c.6919G>A (p.Glu2307Lys)
NM_025114.4(CEP290):c.6922C>A (p.Gln2308Lys)
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
NM_025114.4(CEP290):c.6933C>G (p.Asn2311Lys)
NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu) rs780375623
NM_025114.4(CEP290):c.6960+5_6960+8del rs2033930168
NM_025114.4(CEP290):c.6970C>T (p.Leu2324Phe) rs1261405954
NM_025114.4(CEP290):c.6976C>A (p.His2326Asn) rs2136637071
NM_025114.4(CEP290):c.6977A>G (p.His2326Arg)
NM_025114.4(CEP290):c.698A>G (p.Glu233Gly) rs2138087140
NM_025114.4(CEP290):c.6991G>T (p.Ala2331Ser)
NM_025114.4(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.4(CEP290):c.7008C>T (p.Gly2336=) rs2136636238
NM_025114.4(CEP290):c.7016G>T (p.Arg2339Leu)
NM_025114.4(CEP290):c.7055A>T (p.Asp2352Val) rs2033762979
NM_025114.4(CEP290):c.7056T>G (p.Asp2352Glu)
NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr)
NM_025114.4(CEP290):c.7067C>G (p.Ala2356Gly) rs2136624871
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu) rs1364454411
NM_025114.4(CEP290):c.7107T>A (p.Ser2369Arg)
NM_025114.4(CEP290):c.7111G>T (p.Ala2371Ser)
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr) rs540340404
NM_025114.4(CEP290):c.713A>C (p.Glu238Ala) rs2138086785
NM_025114.4(CEP290):c.7150A>G (p.Lys2384Glu)
NM_025114.4(CEP290):c.7153A>G (p.Ile2385Val)
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe)
NM_025114.4(CEP290):c.7186G>C (p.Asp2396His)
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7210-3T>G
NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)
NM_025114.4(CEP290):c.7237C>A (p.Leu2413Met) rs2136547632
NM_025114.4(CEP290):c.7243A>G (p.Asn2415Asp)
NM_025114.4(CEP290):c.7256C>T (p.Ser2419Leu) rs2136547201
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile)
NM_025114.4(CEP290):c.7282_7284dup (p.Lys2428_Tyr2429insLys)
NM_025114.4(CEP290):c.7303G>A (p.Val2435Met) rs2136546112
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7305GAA[4] (p.Lys2437_Asn2438insLys)
NM_025114.4(CEP290):c.7316T>C (p.Ile2439Thr)
NM_025114.4(CEP290):c.7358_7359delinsAG (p.Gly2453Glu)
NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile) rs2033234687
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del) rs1345322609
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs) rs757255407
NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu)
NM_025114.4(CEP290):c.7394_7397dup (p.Phe2466fs)
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser) rs1159836808
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del) rs777398895
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)
NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs) rs1368325179
NM_025114.4(CEP290):c.7430C>G (p.Pro2477Arg) rs2033224468
NM_025114.4(CEP290):c.74C>T (p.Ala25Val)
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp) rs2039957080
NM_025114.4(CEP290):c.758_760del (p.Met253del) rs2039956756
NM_025114.4(CEP290):c.78T>G (p.Asp26Glu)
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.794A>G (p.His265Arg) rs902444632
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr) rs796540607
NM_025114.4(CEP290):c.839A>G (p.His280Arg)
NM_025114.4(CEP290):c.850C>G (p.Gln284Glu)
NM_025114.4(CEP290):c.852A>T (p.Gln284His) rs1592671091
NM_025114.4(CEP290):c.853G>A (p.Val285Met)
NM_025114.4(CEP290):c.854T>G (p.Val285Gly)
NM_025114.4(CEP290):c.871C>A (p.Leu291Ile)
NM_025114.4(CEP290):c.890A>T (p.Glu297Val)
NM_025114.4(CEP290):c.894A>C (p.Glu298Asp)
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp) rs2039900054
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn)
NM_025114.4(CEP290):c.898G>A (p.Asp300Asn)
NM_025114.4(CEP290):c.916G>T (p.Val306Phe) rs558949569
NM_025114.4(CEP290):c.948T>G (p.Ile316Met) rs767967987
NM_025114.4(CEP290):c.961G>A (p.Asp321Asn) rs2138024512
NM_025114.4(CEP290):c.962A>T (p.Asp321Val)
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.964G>A (p.Asp322Asn) rs536127246
NM_025114.4(CEP290):c.983A>C (p.Gln328Pro)
NM_025114.4(CEP290):c.994C>T (p.His332Tyr)

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