ClinVar Miner

List of variants reported as likely benign for Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1572
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117 0.00196
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_025114.4(CEP290):c.6136-19T>G rs377613416 0.00050
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_025114.4(CEP290):c.943-8A>T rs200729812 0.00037
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
NM_025114.4(CEP290):c.442-18T>A rs532622908 0.00021
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_025114.4(CEP290):c.853-9G>A rs974759127 0.00020
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_025114.4(CEP290):c.6522+15T>C rs1050903820 0.00015
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00014
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025114.4(CEP290):c.6876C>T (p.Ser2292=) rs538590274 0.00013
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=) rs377227262 0.00012
NM_025114.4(CEP290):c.3195G>A (p.Lys1065=) rs778596948 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00011
NM_025114.4(CEP290):c.298-15G>T rs756197493 0.00010
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325 0.00010
NM_025114.4(CEP290):c.1523-6T>C rs755202424 0.00009
NM_025114.4(CEP290):c.1825-8T>G rs769405843 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_025114.4(CEP290):c.102+15A>G rs372102947 0.00008
NM_025114.4(CEP290):c.1360-10T>C rs372180862 0.00008
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223 0.00007
NM_025114.4(CEP290):c.660T>C (p.Asp220=) rs777201814 0.00007
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440 0.00006
NM_025114.4(CEP290):c.1712-14T>A rs765835575 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 0.00006
NM_025114.4(CEP290):c.5012+15T>C rs538803349 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.6522+7T>G rs754878322 0.00006
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.2967A>G (p.Arg989=) rs371556205 0.00005
NM_025114.4(CEP290):c.441+18T>C rs756876705 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00004
NM_025114.4(CEP290):c.1905T>C (p.Asn635=) rs778341097 0.00004
NM_025114.4(CEP290):c.204G>A (p.Leu68=) rs780930630 0.00004
NM_025114.4(CEP290):c.2217+6A>G rs139027723 0.00004
NM_025114.4(CEP290):c.2218-5T>C rs939517627 0.00004
NM_025114.4(CEP290):c.2244T>C (p.Ser748=) rs979564116 0.00004
NM_025114.4(CEP290):c.2784T>C (p.Val928=) rs774271927 0.00004
NM_025114.4(CEP290):c.288T>C (p.Asn96=) rs367691481 0.00004
NM_025114.4(CEP290):c.2907C>T (p.Tyr969=) rs376462144 0.00004
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=) rs771584252 0.00004
NM_025114.4(CEP290):c.3462-11T>C rs1296210160 0.00004
NM_025114.4(CEP290):c.3747C>T (p.Leu1249=) rs779178851 0.00004
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=) rs769060806 0.00004
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=) rs779186037 0.00004
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.4963A>C (p.Arg1655=) rs1161295348 0.00004
NM_025114.4(CEP290):c.5012+11G>A rs778779951 0.00004
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.2368-7T>C rs1470044444 0.00003
NM_025114.4(CEP290):c.3246C>T (p.His1082=) rs539042966 0.00003
NM_025114.4(CEP290):c.3310-7T>G rs373298179 0.00003
NM_025114.4(CEP290):c.3462-12A>G rs778134699 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.4195-9T>C rs546957016 0.00003
NM_025114.4(CEP290):c.442-20_442-19insA rs772322663 0.00003
NM_025114.4(CEP290):c.4438-7A>G rs764079476 0.00003
NM_025114.4(CEP290):c.4707G>A (p.Glu1569=) rs376242512 0.00003
NM_025114.4(CEP290):c.5271A>C (p.Ala1757=) rs368906813 0.00003
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805 0.00003
NM_025114.4(CEP290):c.6090T>C (p.His2030=) rs1055944923 0.00003
NM_025114.4(CEP290):c.6523-6T>C rs794727692 0.00003
NM_025114.4(CEP290):c.6720A>G (p.Gln2240=) rs751895513 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7034+10G>A rs1057522783 0.00003
NM_025114.4(CEP290):c.852+14T>C rs571313482 0.00003
NM_025114.4(CEP290):c.1035T>C (p.Ala345=) rs778053081 0.00002
NM_025114.4(CEP290):c.105G>A (p.Val35=) rs371969282 0.00002
NM_025114.4(CEP290):c.1113A>G (p.Val371=) rs370095967 0.00002
NM_025114.4(CEP290):c.1522+17G>C rs1269048571 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.1712-5T>C rs994843668 0.00002
NM_025114.4(CEP290):c.2211T>C (p.Asn737=) rs763182158 0.00002
NM_025114.4(CEP290):c.2373A>C (p.Leu791=) rs760126835 0.00002
NM_025114.4(CEP290):c.2424C>T (p.Tyr808=) rs911134690 0.00002
NM_025114.4(CEP290):c.3310-9T>C rs752729387 0.00002
NM_025114.4(CEP290):c.3402T>C (p.Asp1134=) rs976423527 0.00002
NM_025114.4(CEP290):c.3429G>A (p.Lys1143=) rs769362204 0.00002
NM_025114.4(CEP290):c.3498T>G (p.Val1166=) rs750099379 0.00002
NM_025114.4(CEP290):c.4107A>G (p.Lys1369=) rs1380584703 0.00002
NM_025114.4(CEP290):c.4123T>C (p.Leu1375=) rs368322148 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.4314T>G (p.Ala1438=) rs773185972 0.00002
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=) rs778794581 0.00002
NM_025114.4(CEP290):c.495+17G>T rs181956234 0.00002
NM_025114.4(CEP290):c.5013-7A>C rs762217156 0.00002
NM_025114.4(CEP290):c.5112A>G (p.Leu1704=) rs758459529 0.00002
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val) rs754184488 0.00002
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=) rs747996508 0.00002
NM_025114.4(CEP290):c.5379T>C (p.Asp1793=) rs1031513373 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=) rs1481341836 0.00002
NM_025114.4(CEP290):c.5709+10G>A rs1019366465 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_025114.4(CEP290):c.6069A>G (p.Arg2023=) rs772038500 0.00002
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=) rs766265410 0.00002
NM_025114.4(CEP290):c.6135+7G>A rs772383636 0.00002
NM_025114.4(CEP290):c.6444T>C (p.Asn2148=) rs368101871 0.00002
NM_025114.4(CEP290):c.6522+6_6522+7insA rs748258476 0.00002
NM_025114.4(CEP290):c.6534A>G (p.Glu2178=) rs759956779 0.00002
NM_025114.4(CEP290):c.6818+9A>G rs748162184 0.00002
NM_025114.4(CEP290):c.735G>A (p.Glu245=) rs917730125 0.00002
NM_025114.4(CEP290):c.943-18T>C rs754330511 0.00002
NM_025114.4(CEP290):c.996T>C (p.His332=) rs746022535 0.00002
NM_025114.4(CEP290):c.1002A>G (p.Leu334=) rs757621266 0.00001
NM_025114.4(CEP290):c.102+13T>C rs773325354 0.00001
NM_025114.4(CEP290):c.102+9T>C rs757243626 0.00001
NM_025114.4(CEP290):c.103-17C>T rs976920583 0.00001
NM_025114.4(CEP290):c.1057C>T (p.Leu353=) rs1036812157 0.00001
NM_025114.4(CEP290):c.1066-17T>C rs761615192 0.00001
NM_025114.4(CEP290):c.1066-4A>G rs2039668462 0.00001
NM_025114.4(CEP290):c.1107A>G (p.Glu369=) rs1202218217 0.00001
NM_025114.4(CEP290):c.1190-19T>C rs892306905 0.00001
NM_025114.4(CEP290):c.1190-8C>T rs764602507 0.00001
NM_025114.4(CEP290):c.1236G>A (p.Thr412=) rs534187846 0.00001
NM_025114.4(CEP290):c.1359+7A>T rs2039362896 0.00001
NM_025114.4(CEP290):c.144G>A (p.Val48=) rs752484237 0.00001
NM_025114.4(CEP290):c.1455A>G (p.Glu485=) rs755893750 0.00001
NM_025114.4(CEP290):c.1464A>G (p.Lys488=) rs747644093 0.00001
NM_025114.4(CEP290):c.1512A>G (p.Arg504=) rs1592639705 0.00001
NM_025114.4(CEP290):c.1523-11T>G rs747839947 0.00001
NM_025114.4(CEP290):c.1523-4G>A rs746906765 0.00001
NM_025114.4(CEP290):c.1523-7A>G rs1413722193 0.00001
NM_025114.4(CEP290):c.1596A>G (p.Arg532=) rs770310236 0.00001
NM_025114.4(CEP290):c.1623+13G>A rs746496743 0.00001
NM_025114.4(CEP290):c.1680T>C (p.Ala560=) rs777669368 0.00001
NM_025114.4(CEP290):c.168G>A (p.Gln56=) rs1382787422 0.00001
NM_025114.4(CEP290):c.1711+8C>T rs765158159 0.00001
NM_025114.4(CEP290):c.1712-6A>G rs1452155200 0.00001
NM_025114.4(CEP290):c.1712-8A>G rs757895570 0.00001
NM_025114.4(CEP290):c.1712-9T>C rs1412442444 0.00001
NM_025114.4(CEP290):c.1725G>A (p.Glu575=) rs1278197433 0.00001
NM_025114.4(CEP290):c.1779A>G (p.Lys593=) rs374292851 0.00001
NM_025114.4(CEP290):c.180+9G>A rs2040617810 0.00001
NM_025114.4(CEP290):c.181-9A>G rs745494615 0.00001
NM_025114.4(CEP290):c.1824+15T>C rs999848467 0.00001
NM_025114.4(CEP290):c.1824+16T>G rs769650506 0.00001
NM_025114.4(CEP290):c.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.1992T>C (p.Asp664=) rs1430141121 0.00001
NM_025114.4(CEP290):c.2016A>G (p.Thr672=) rs886038690 0.00001
NM_025114.4(CEP290):c.2052+17A>G rs886038691 0.00001
NM_025114.4(CEP290):c.2052+20T>C rs142162258 0.00001
NM_025114.4(CEP290):c.2052+7T>A rs1341344972 0.00001
NM_025114.4(CEP290):c.2053-5G>T rs764694042 0.00001
NM_025114.4(CEP290):c.2073A>G (p.Ala691=) rs766690438 0.00001
NM_025114.4(CEP290):c.2091G>A (p.Ala697=) rs1399023990 0.00001
NM_025114.4(CEP290):c.2127C>T (p.Thr709=) rs756894456 0.00001
NM_025114.4(CEP290):c.2205A>G (p.Lys735=) rs1398701243 0.00001
NM_025114.4(CEP290):c.2218-10T>C rs1433595237 0.00001
NM_025114.4(CEP290):c.2277T>C (p.Val759=) rs1253940761 0.00001
NM_025114.4(CEP290):c.2343T>C (p.Asn781=) rs748034744 0.00001
NM_025114.4(CEP290):c.2367+8A>C rs1373970415 0.00001
NM_025114.4(CEP290):c.2368-10C>T rs1483385915 0.00001
NM_025114.4(CEP290):c.237A>G (p.Glu79=) rs1206035309 0.00001
NM_025114.4(CEP290):c.2394A>G (p.Leu798=) rs542236778 0.00001
NM_025114.4(CEP290):c.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2483+3_2483+7dup rs1461768571 0.00001
NM_025114.4(CEP290):c.2490G>A (p.Lys830=) rs1487806486 0.00001
NM_025114.4(CEP290):c.2587-6G>A rs2038323989 0.00001
NM_025114.4(CEP290):c.2587-9T>C rs766982108 0.00001
NM_025114.4(CEP290):c.2688T>C (p.Leu896=) rs2038314751 0.00001
NM_025114.4(CEP290):c.2712A>G (p.Val904=) rs1371763035 0.00001
NM_025114.4(CEP290):c.2721G>A (p.Glu907=) rs1238362600 0.00001
NM_025114.4(CEP290):c.2778T>C (p.Ala926=) rs767032720 0.00001
NM_025114.4(CEP290):c.2826C>G (p.Ala942=) rs1456663660 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.2880T>C (p.Ser960=) rs778138631 0.00001
NM_025114.4(CEP290):c.291A>G (p.Glu97=) rs757402765 0.00001
NM_025114.4(CEP290):c.2929A>C (p.Arg977=) rs765840717 0.00001
NM_025114.4(CEP290):c.2940G>A (p.Leu980=) rs750343200 0.00001
NM_025114.4(CEP290):c.297+16T>C rs547662093 0.00001
NM_025114.4(CEP290):c.298-11A>G rs748232723 0.00001
NM_025114.4(CEP290):c.2991+11G>A rs1214417467 0.00001
NM_025114.4(CEP290):c.3006C>T (p.Ser1002=) rs748493455 0.00001
NM_025114.4(CEP290):c.3024G>A (p.Glu1008=) rs1227765663 0.00001
NM_025114.4(CEP290):c.3030A>C (p.Ile1010=) rs1280566129 0.00001
NM_025114.4(CEP290):c.303T>G (p.Ala101=) rs2040376122 0.00001
NM_025114.4(CEP290):c.3060A>G (p.Lys1020=) rs948320708 0.00001
NM_025114.4(CEP290):c.306G>A (p.Gln102=) rs755418283 0.00001
NM_025114.4(CEP290):c.3108T>C (p.Asn1036=) rs2037242478 0.00001
NM_025114.4(CEP290):c.3129A>G (p.Ala1043=) rs2037240316 0.00001
NM_025114.4(CEP290):c.3180T>G (p.Thr1060=) rs552585004 0.00001
NM_025114.4(CEP290):c.3225T>C (p.His1075=) rs1238044392 0.00001
NM_025114.4(CEP290):c.3234A>G (p.Lys1078=) rs376027433 0.00001
NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=) rs886042467 0.00001
NM_025114.4(CEP290):c.3258G>A (p.Ser1086=) rs775973036 0.00001
NM_025114.4(CEP290):c.3310-10A>G rs1178248633 0.00001
NM_025114.4(CEP290):c.3310-20T>C rs1446567922 0.00001
NM_025114.4(CEP290):c.3342G>A (p.Val1114=) rs754811220 0.00001
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146 0.00001
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=) rs747972826 0.00001
NM_025114.4(CEP290):c.3461+16C>T rs1191430138 0.00001
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=) rs1275942966 0.00001
NM_025114.4(CEP290):c.3561G>A (p.Leu1187=) rs771857714 0.00001
NM_025114.4(CEP290):c.3562C>T (p.Leu1188=) rs1241950761 0.00001
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=) rs376645523 0.00001
NM_025114.4(CEP290):c.3621T>C (p.Asn1207=) rs761412978 0.00001
NM_025114.4(CEP290):c.3663G>A (p.Leu1221=) rs1268722686 0.00001
NM_025114.4(CEP290):c.366A>G (p.Lys122=) rs774352665 0.00001
NM_025114.4(CEP290):c.3687G>A (p.Gln1229=) rs1345968216 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.393G>A (p.Leu131=) rs780621500 0.00001
NM_025114.4(CEP290):c.3960G>A (p.Glu1320=) rs2036812497 0.00001
NM_025114.4(CEP290):c.4083A>G (p.Leu1361=) rs528988184 0.00001
NM_025114.4(CEP290):c.4131C>T (p.Asn1377=) rs1217345596 0.00001
NM_025114.4(CEP290):c.4251A>G (p.Gln1417=) rs775279240 0.00001
NM_025114.4(CEP290):c.4299A>G (p.Gln1433=) rs1457015763 0.00001
NM_025114.4(CEP290):c.4303-15A>G rs767235408 0.00001
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=) rs372184970 0.00001
NM_025114.4(CEP290):c.4344C>T (p.Pro1448=) rs2036556391 0.00001
NM_025114.4(CEP290):c.4365C>T (p.Ile1455=) rs552731286 0.00001
NM_025114.4(CEP290):c.4368T>G (p.Ala1456=) rs772640114 0.00001
NM_025114.4(CEP290):c.441+14T>G rs765642954 0.00001
NM_025114.4(CEP290):c.4431A>G (p.Leu1477=) rs1435937461 0.00001
NM_025114.4(CEP290):c.4438-18A>G rs761675817 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=) rs748296011 0.00001
NM_025114.4(CEP290):c.4566A>G (p.Leu1522=) rs763991371 0.00001
NM_025114.4(CEP290):c.4614T>C (p.Ala1538=) rs747484394 0.00001
NM_025114.4(CEP290):c.4734G>A (p.Glu1578=) rs1409082857 0.00001
NM_025114.4(CEP290):c.4812+9C>T rs747569970 0.00001
NM_025114.4(CEP290):c.4824A>G (p.Lys1608=) rs1273344761 0.00001
NM_025114.4(CEP290):c.4839A>G (p.Pro1613=) rs1273165449 0.00001
NM_025114.4(CEP290):c.4887A>T (p.Thr1629=) rs1179886652 0.00001
NM_025114.4(CEP290):c.4893A>C (p.Ala1631=) rs752956198 0.00001
NM_025114.4(CEP290):c.4920C>G (p.Leu1640=) rs1330745435 0.00001
NM_025114.4(CEP290):c.4941A>G (p.Val1647=) rs776334632 0.00001
NM_025114.4(CEP290):c.496-4G>A rs1263086196 0.00001
NM_025114.4(CEP290):c.496-6C>T rs776649058 0.00001
NM_025114.4(CEP290):c.5012+7C>T rs1459836393 0.00001
NM_025114.4(CEP290):c.5013-17A>G rs2036114425 0.00001
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=) rs1259897302 0.00001
NM_025114.4(CEP290):c.5028T>C (p.His1676=) rs775086368 0.00001
NM_025114.4(CEP290):c.5073G>A (p.Lys1691=) rs768807929 0.00001
NM_025114.4(CEP290):c.517-17T>C rs760912729 0.00001
NM_025114.4(CEP290):c.5181A>T (p.Val1727=) rs1002651698 0.00001
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=) rs754590700 0.00001
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=) rs747328752 0.00001
NM_025114.4(CEP290):c.5283A>G (p.Glu1761=) rs749975524 0.00001
NM_025114.4(CEP290):c.5337C>T (p.Ile1779=) rs1367796637 0.00001
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=) rs1452561924 0.00001
NM_025114.4(CEP290):c.5442A>G (p.Ser1814=) rs1161234355 0.00001
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=) rs753424189 0.00001
NM_025114.4(CEP290):c.5526A>G (p.Glu1842=) rs777528087 0.00001
NM_025114.4(CEP290):c.5541T>C (p.Asn1847=) rs931780353 0.00001
NM_025114.4(CEP290):c.5586+9A>G rs746293904 0.00001
NM_025114.4(CEP290):c.5589C>A (p.Gly1863=) rs1391226067 0.00001
NM_025114.4(CEP290):c.5640A>G (p.Lys1880=) rs1225010541 0.00001
NM_025114.4(CEP290):c.5670A>C (p.Gly1890=) rs545964640 0.00001
NM_025114.4(CEP290):c.5688C>T (p.Asp1896=) rs1166115017 0.00001
NM_025114.4(CEP290):c.5710-14C>T rs766723760 0.00001
NM_025114.4(CEP290):c.5710-6T>C rs772896946 0.00001
NM_025114.4(CEP290):c.5751G>A (p.Lys1917=) rs1384070051 0.00001
NM_025114.4(CEP290):c.5808C>T (p.Val1936=) rs905571067 0.00001
NM_025114.4(CEP290):c.583T>C (p.Leu195=) rs1429521689 0.00001
NM_025114.4(CEP290):c.5859C>T (p.Ala1953=) rs727503852 0.00001
NM_025114.4(CEP290):c.5919G>A (p.Gln1973=) rs1231554118 0.00001
NM_025114.4(CEP290):c.597G>A (p.Gly199=) rs757015598 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6072C>T (p.Tyr2024=) rs779262951 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.6135+8T>A rs759481991 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6207A>G (p.Ser2069=) rs1327169453 0.00001
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=) rs374183249 0.00001
NM_025114.4(CEP290):c.6270+19A>G rs1181927624 0.00001
NM_025114.4(CEP290):c.6271-8T>C rs1039146791 0.00001
NM_025114.4(CEP290):c.6375G>A (p.Lys2125=) rs1408298921 0.00001
NM_025114.4(CEP290):c.6381C>T (p.Ile2127=) rs761864807 0.00001
NM_025114.4(CEP290):c.6426A>G (p.Glu2142=) rs1303402400 0.00001
NM_025114.4(CEP290):c.6525T>C (p.Ala2175=) rs2034343634 0.00001
NM_025114.4(CEP290):c.6555G>A (p.Gly2185=) rs1282398701 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_025114.4(CEP290):c.6648A>G (p.Glu2216=) rs1048414150 0.00001
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=) rs544886883 0.00001
NM_025114.4(CEP290):c.669+20A>G rs373119842 0.00001
NM_025114.4(CEP290):c.669+8G>T rs768408897 0.00001
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=) rs755447230 0.00001
NM_025114.4(CEP290):c.6819-10A>G rs150241790 0.00001
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=) rs759290213 0.00001
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=) rs768771609 0.00001
NM_025114.4(CEP290):c.7020G>A (p.Glu2340=) rs749716804 0.00001
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=) rs1176691356 0.00001
NM_025114.4(CEP290):c.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.7131T>C (p.Asp2377=) rs759638203 0.00001
NM_025114.4(CEP290):c.7197G>A (p.Lys2399=) rs779550219 0.00001
NM_025114.4(CEP290):c.7210-5A>T rs2033257006 0.00001
NM_025114.4(CEP290):c.726T>C (p.Asn242=) rs949161264 0.00001
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=) rs1397480003 0.00001
NM_025114.4(CEP290):c.7314T>C (p.Asn2438=) rs1555193066 0.00001
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=) rs1415533078 0.00001
NM_025114.4(CEP290):c.78T>C (p.Asp26=) rs2040639110 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_025114.4(CEP290):c.942+20A>G rs1409061084 0.00001
NM_025114.4(CEP290):c.978G>A (p.Glu326=) rs935755196 0.00001
NM_025114.4(CEP290):c.1000C>T (p.Leu334=) rs2138022943
NM_025114.4(CEP290):c.1002A>T (p.Leu334=) rs757621266
NM_025114.4(CEP290):c.1005G>A (p.Arg335=) rs1043933772
NM_025114.4(CEP290):c.1008G>A (p.Glu336=)
NM_025114.4(CEP290):c.102+17T>C
NM_025114.4(CEP290):c.102+7A>T
NM_025114.4(CEP290):c.102+8A>T rs2138303509
NM_025114.4(CEP290):c.1020T>C (p.Asn340=)
NM_025114.4(CEP290):c.1026G>A (p.Gln342=)
NM_025114.4(CEP290):c.103-20T>C
NM_025114.4(CEP290):c.103-4T>G
NM_025114.4(CEP290):c.103-5C>T rs2138299257
NM_025114.4(CEP290):c.1035T>A (p.Ala345=)
NM_025114.4(CEP290):c.1044T>C (p.Ser348=)
NM_025114.4(CEP290):c.1059A>G (p.Leu353=) rs2138021415
NM_025114.4(CEP290):c.1065+11A>G
NM_025114.4(CEP290):c.1065+12_1065+14del
NM_025114.4(CEP290):c.1065+15_1065+16del
NM_025114.4(CEP290):c.1065+9T>G
NM_025114.4(CEP290):c.1066-10T>C
NM_025114.4(CEP290):c.1066-20T>A rs1472056992
NM_025114.4(CEP290):c.1066-5T>C
NM_025114.4(CEP290):c.1066-8T>A
NM_025114.4(CEP290):c.1068T>A (p.Gly356=)
NM_025114.4(CEP290):c.1068T>C (p.Gly356=)
NM_025114.4(CEP290):c.1078C>A (p.Arg360=) rs776645403
NM_025114.4(CEP290):c.1092T>C (p.Ile364=)
NM_025114.4(CEP290):c.1095G>A (p.Lys365=) rs2138002953
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=) rs758472041
NM_025114.4(CEP290):c.1128A>G (p.Lys376=) rs2138001930
NM_025114.4(CEP290):c.1131A>G (p.Glu377=) rs1248968401
NM_025114.4(CEP290):c.1140G>A (p.Lys380=)
NM_025114.4(CEP290):c.1158A>G (p.Glu386=)
NM_025114.4(CEP290):c.1179A>G (p.Gln393=) rs2138000643
NM_025114.4(CEP290):c.1182A>G (p.Arg394=) rs2138000548
NM_025114.4(CEP290):c.1185C>T (p.Asn395=)
NM_025114.4(CEP290):c.1189+10T>G
NM_025114.4(CEP290):c.1189+13A>G rs2039658519
NM_025114.4(CEP290):c.1189+15A>G
NM_025114.4(CEP290):c.1189+16T>C
NM_025114.4(CEP290):c.1189+19A>G
NM_025114.4(CEP290):c.1189+19_1189+21del
NM_025114.4(CEP290):c.1189+20G>A
NM_025114.4(CEP290):c.1189+20_1189+23del rs1460774098
NM_025114.4(CEP290):c.1189+9A>G
NM_025114.4(CEP290):c.1190-10T>C rs750104849
NM_025114.4(CEP290):c.1190-15G>T
NM_025114.4(CEP290):c.1190-4G>C rs2039375104
NM_025114.4(CEP290):c.1190-6C>G
NM_025114.4(CEP290):c.1190-6C>T
NM_025114.4(CEP290):c.1190-8_1190-7delinsTC rs2137921603
NM_025114.4(CEP290):c.1197A>C (p.Ser399=)
NM_025114.4(CEP290):c.1209A>G (p.Gln403=) rs748251474
NM_025114.4(CEP290):c.120A>G (p.Leu40=) rs2138298973
NM_025114.4(CEP290):c.1230G>A (p.Gln410=) rs2137920073
NM_025114.4(CEP290):c.1236G>T (p.Thr412=)
NM_025114.4(CEP290):c.1242C>T (p.Asp414=)
NM_025114.4(CEP290):c.1248A>G (p.Leu416=)
NM_025114.4(CEP290):c.1263A>G (p.Lys421=)
NM_025114.4(CEP290):c.1266G>A (p.Glu422=)
NM_025114.4(CEP290):c.1281T>C (p.Ala427=) rs2137918647
NM_025114.4(CEP290):c.1284A>G (p.Glu428=)
NM_025114.4(CEP290):c.1293G>A (p.Glu431=) rs1367715172
NM_025114.4(CEP290):c.1296T>C (p.Ala432=)
NM_025114.4(CEP290):c.12T>C (p.Asn4=)
NM_025114.4(CEP290):c.1305G>A (p.Arg435=)
NM_025114.4(CEP290):c.1320A>G (p.Glu440=)
NM_025114.4(CEP290):c.1350T>C (p.Asp450=)
NM_025114.4(CEP290):c.1353T>C (p.Tyr451=) rs2137916151
NM_025114.4(CEP290):c.1359+13A>G
NM_025114.4(CEP290):c.1359+15C>G
NM_025114.4(CEP290):c.1359+15C>T
NM_025114.4(CEP290):c.1359+16T>C
NM_025114.4(CEP290):c.1359+18G>T
NM_025114.4(CEP290):c.1359+19T>C
NM_025114.4(CEP290):c.1359+20C>A
NM_025114.4(CEP290):c.1359+20C>T
NM_025114.4(CEP290):c.135A>G (p.Gln45=)
NM_025114.4(CEP290):c.1360-11A>G
NM_025114.4(CEP290):c.1360-14T>G
NM_025114.4(CEP290):c.1360-4T>C
NM_025114.4(CEP290):c.1360-7T>C
NM_025114.4(CEP290):c.1360-9A>C rs2137905309
NM_025114.4(CEP290):c.1360-9del
NM_025114.4(CEP290):c.1362A>G (p.Gly454=)
NM_025114.4(CEP290):c.1365A>G (p.Val455=)
NM_025114.4(CEP290):c.1371T>C (p.Gly457=)
NM_025114.4(CEP290):c.1380T>C (p.Asp460=)
NM_025114.4(CEP290):c.1386C>A (p.Val462=) rs886038689
NM_025114.4(CEP290):c.1386C>G (p.Val462=)
NM_025114.4(CEP290):c.1389T>A (p.Val463=)
NM_025114.4(CEP290):c.1392A>G (p.Glu464=)
NM_025114.4(CEP290):c.1419A>G (p.Lys473=) rs2137903473
NM_025114.4(CEP290):c.141T>C (p.Asn47=) rs1267471683
NM_025114.4(CEP290):c.1429C>A (p.Arg477=) rs1170451277
NM_025114.4(CEP290):c.1434G>A (p.Glu478=)
NM_025114.4(CEP290):c.1482T>C (p.Ser494=) rs1295495930
NM_025114.4(CEP290):c.1515G>A (p.Glu505=)
NM_025114.4(CEP290):c.1522+11T>C
NM_025114.4(CEP290):c.1522+14T>G
NM_025114.4(CEP290):c.1522+15A>C
NM_025114.4(CEP290):c.1522+20A>T
NM_025114.4(CEP290):c.1522+8A>G rs1410927153
NM_025114.4(CEP290):c.1522+9T>C rs982222564
NM_025114.4(CEP290):c.1523-10del rs2039228878
NM_025114.4(CEP290):c.1523-13C>T
NM_025114.4(CEP290):c.1523-14G>A
NM_025114.4(CEP290):c.1523-15del rs2137876506
NM_025114.4(CEP290):c.1523-18T>C
NM_025114.4(CEP290):c.1523-19A>G
NM_025114.4(CEP290):c.1524C>T (p.Gly508=)
NM_025114.4(CEP290):c.1527T>G (p.Leu509=)
NM_025114.4(CEP290):c.1584G>A (p.Gln528=)
NM_025114.4(CEP290):c.1593C>T (p.Tyr531=) rs763559949
NM_025114.4(CEP290):c.1599T>G (p.Ala533=) rs2137874116
NM_025114.4(CEP290):c.1602A>G (p.Glu534=)
NM_025114.4(CEP290):c.1605C>T (p.Asn535=)
NM_025114.4(CEP290):c.1611T>A (p.Ile537=)
NM_025114.4(CEP290):c.1611T>C (p.Ile537=)
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1623+10_1623+11dup
NM_025114.4(CEP290):c.1623+18T>C
NM_025114.4(CEP290):c.1623+7G>T rs2137873070
NM_025114.4(CEP290):c.1624-10T>C rs2137871528
NM_025114.4(CEP290):c.1624-12T>G
NM_025114.4(CEP290):c.1624-13T>C
NM_025114.4(CEP290):c.1624-13T>G
NM_025114.4(CEP290):c.1624-14T>G
NM_025114.4(CEP290):c.1624-18A>C
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.1626T>A (p.Ile542=) rs762272190
NM_025114.4(CEP290):c.1635A>G (p.Leu545=)
NM_025114.4(CEP290):c.1638G>A (p.Glu546=)
NM_025114.4(CEP290):c.1644A>G (p.Glu548=)
NM_025114.4(CEP290):c.1650T>A (p.Leu550=)
NM_025114.4(CEP290):c.165T>A (p.Thr55=) rs2138297919
NM_025114.4(CEP290):c.165T>C (p.Thr55=) rs2138297919
NM_025114.4(CEP290):c.1668T>A (p.Ile556=) rs1458242843
NM_025114.4(CEP290):c.1683A>G (p.Gln561=)
NM_025114.4(CEP290):c.1711+13A>T
NM_025114.4(CEP290):c.1711+18A>G rs2137866354
NM_025114.4(CEP290):c.1711+7T>C
NM_025114.4(CEP290):c.1711+9A>G rs1354489737
NM_025114.4(CEP290):c.1712-17A>T
NM_025114.4(CEP290):c.1712-20G>T
NM_025114.4(CEP290):c.1712-4A>G
NM_025114.4(CEP290):c.1712-7T>C rs1211882783
NM_025114.4(CEP290):c.1712-9TA[5] rs2137838962
NM_025114.4(CEP290):c.171A>G (p.Ser57=) rs2138297496
NM_025114.4(CEP290):c.1737A>T (p.Leu579=) rs1173906301
NM_025114.4(CEP290):c.1746C>T (p.Asn582=)
NM_025114.4(CEP290):c.174A>G (p.Leu58=) rs1257171303
NM_025114.4(CEP290):c.174A>T (p.Leu58=)
NM_025114.4(CEP290):c.1758A>G (p.Gly586=)
NM_025114.4(CEP290):c.1761T>C (p.Asp587=)
NM_025114.4(CEP290):c.1788A>G (p.Leu596=) rs1223585284
NM_025114.4(CEP290):c.1789T>C (p.Leu597=) rs2039096949
NM_025114.4(CEP290):c.1791G>A (p.Leu597=) rs1346086093
NM_025114.4(CEP290):c.1797C>A (p.Leu599=) rs2137836275
NM_025114.4(CEP290):c.1797C>G (p.Leu599=)
NM_025114.4(CEP290):c.180+10_180+11dup
NM_025114.4(CEP290):c.180+12G>T
NM_025114.4(CEP290):c.180+13T>C
NM_025114.4(CEP290):c.180+14A>T
NM_025114.4(CEP290):c.180+15G>T
NM_025114.4(CEP290):c.180+18T>G
NM_025114.4(CEP290):c.180+8T>C rs750648438
NM_025114.4(CEP290):c.181-10T>A
NM_025114.4(CEP290):c.181-17C>A
NM_025114.4(CEP290):c.181-17C>G
NM_025114.4(CEP290):c.181-18C>T
NM_025114.4(CEP290):c.181-4T>A rs773899264
NM_025114.4(CEP290):c.181-6G>A rs975947396
NM_025114.4(CEP290):c.181-6G>T
NM_025114.4(CEP290):c.181-7T>C rs2138267601
NM_025114.4(CEP290):c.1824+12G>A
NM_025114.4(CEP290):c.1824+14A>G
NM_025114.4(CEP290):c.1824+15dup rs746448124
NM_025114.4(CEP290):c.1824+17G>A
NM_025114.4(CEP290):c.1824+18C>A
NM_025114.4(CEP290):c.1824+7G>A
NM_025114.4(CEP290):c.1824+7G>C
NM_025114.4(CEP290):c.1824+9A>G rs2137835565
NM_025114.4(CEP290):c.1825-11G>C
NM_025114.4(CEP290):c.1825-16T>C
NM_025114.4(CEP290):c.1825-17C>A rs1271533024
NM_025114.4(CEP290):c.1825-17C>T
NM_025114.4(CEP290):c.1825-19T>G
NM_025114.4(CEP290):c.1827T>C (p.Asn609=)
NM_025114.4(CEP290):c.1830A>G (p.Glu610=) rs2038962868
NM_025114.4(CEP290):c.1839A>T (p.Ser613=)
NM_025114.4(CEP290):c.1851T>C (p.Ile617=)
NM_025114.4(CEP290):c.1854A>G (p.Glu618=) rs1457478471
NM_025114.4(CEP290):c.1863A>G (p.Arg621=)
NM_025114.4(CEP290):c.1875G>A (p.Arg625=)
NM_025114.4(CEP290):c.1878T>C (p.Ser626=)
NM_025114.4(CEP290):c.1884A>C (p.Thr628=)
NM_025114.4(CEP290):c.1884A>G (p.Thr628=)
NM_025114.4(CEP290):c.1899T>C (p.Phe633=)
NM_025114.4(CEP290):c.1909+14A>T
NM_025114.4(CEP290):c.1909+17T>C
NM_025114.4(CEP290):c.1909+9C>G rs2038957507
NM_025114.4(CEP290):c.1910-10_1910-9del rs773520477
NM_025114.4(CEP290):c.1910-27_1910-19del
NM_025114.4(CEP290):c.1910-4A>G
NM_025114.4(CEP290):c.1935G>A (p.Lys645=)
NM_025114.4(CEP290):c.1944A>G (p.Glu648=)
NM_025114.4(CEP290):c.1963T>C (p.Leu655=) rs2137782192
NM_025114.4(CEP290):c.1965G>A (p.Leu655=) rs2137782106
NM_025114.4(CEP290):c.1968A>G (p.Gln656=) rs2038920205
NM_025114.4(CEP290):c.1986G>A (p.Gln662=)
NM_025114.4(CEP290):c.1989A>G (p.Lys663=)
NM_025114.4(CEP290):c.1998T>C (p.Asp666=)
NM_025114.4(CEP290):c.201G>A (p.Glu67=)
NM_025114.4(CEP290):c.2043A>G (p.Arg681=)
NM_025114.4(CEP290):c.2052+14T>C rs2137779486
NM_025114.4(CEP290):c.2052+15T>C
NM_025114.4(CEP290):c.2052+18T>A
NM_025114.4(CEP290):c.2052+8A>G
NM_025114.4(CEP290):c.2052+9T>C
NM_025114.4(CEP290):c.2053-11A>C rs2137726477
NM_025114.4(CEP290):c.2053-14T>C rs2137726582
NM_025114.4(CEP290):c.2053-14_2053-10del
NM_025114.4(CEP290):c.2053-16A>G
NM_025114.4(CEP290):c.2053-17T>C
NM_025114.4(CEP290):c.2053-20A>C
NM_025114.4(CEP290):c.2053-20A>G
NM_025114.4(CEP290):c.2053-4C>G
NM_025114.4(CEP290):c.2064A>C (p.Ser688=) rs2137725550
NM_025114.4(CEP290):c.2064A>G (p.Ser688=)
NM_025114.4(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.4(CEP290):c.2070T>C (p.Asn690=)
NM_025114.4(CEP290):c.2073A>C (p.Ala691=)
NM_025114.4(CEP290):c.2095C>T (p.Leu699=) rs748627817
NM_025114.4(CEP290):c.2097G>T (p.Leu699=)
NM_025114.4(CEP290):c.2115T>G (p.Val705=)
NM_025114.4(CEP290):c.2127C>G (p.Thr709=)
NM_025114.4(CEP290):c.2163A>G (p.Glu721=) rs2137722314
NM_025114.4(CEP290):c.2187T>C (p.Tyr729=)
NM_025114.4(CEP290):c.2197T>C (p.Leu733=)
NM_025114.4(CEP290):c.2199G>A (p.Leu733=) rs2137721385
NM_025114.4(CEP290):c.2202A>G (p.Ala734=) rs2137721256
NM_025114.4(CEP290):c.2217+17A>G rs2137720557
NM_025114.4(CEP290):c.2217+19A>G
NM_025114.4(CEP290):c.2217+7A>G
NM_025114.4(CEP290):c.2218-13T>A rs780987235
NM_025114.4(CEP290):c.2218-15G>A rs993016017
NM_025114.4(CEP290):c.2218-16G>A
NM_025114.4(CEP290):c.2218-4C>T rs2137713156
NM_025114.4(CEP290):c.2218-6T>C
NM_025114.4(CEP290):c.2235A>G (p.Lys745=)
NM_025114.4(CEP290):c.2247T>C (p.Leu749=) rs762072403
NM_025114.4(CEP290):c.2250A>G (p.Leu750=)
NM_025114.4(CEP290):c.2259A>G (p.Ser753=)
NM_025114.4(CEP290):c.225A>G (p.Lys75=) rs2040521242
NM_025114.4(CEP290):c.2268A>T (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2286A>G (p.Gly762=) rs1171982729
NM_025114.4(CEP290):c.228T>C (p.Ala76=)
NM_025114.4(CEP290):c.2293T>C (p.Leu765=)
NM_025114.4(CEP290):c.2301T>C (p.Asp767=)
NM_025114.4(CEP290):c.2304G>C (p.Gly768=)
NM_025114.4(CEP290):c.231A>G (p.Gly77=) rs753852812
NM_025114.4(CEP290):c.2322C>T (p.Ala774=)
NM_025114.4(CEP290):c.2328C>T (p.Ile776=) rs2137708829
NM_025114.4(CEP290):c.2337T>G (p.Ser779=)
NM_025114.4(CEP290):c.2361G>A (p.Leu787=) rs1337194775
NM_025114.4(CEP290):c.2367+10A>G
NM_025114.4(CEP290):c.2367+20A>C
NM_025114.4(CEP290):c.2367+8A>G rs1373970415
NM_025114.4(CEP290):c.2367+9A>C
NM_025114.4(CEP290):c.2368-10del rs2137665854
NM_025114.4(CEP290):c.2368-16C>A
NM_025114.4(CEP290):c.2368-19T>C rs2137665948
NM_025114.4(CEP290):c.2368-4T>A rs2137665617
NM_025114.4(CEP290):c.2368-5_2368-4del
NM_025114.4(CEP290):c.2368-8C>T
NM_025114.4(CEP290):c.2371C>T (p.Leu791=) rs2137665532
NM_025114.4(CEP290):c.2373A>G (p.Leu791=) rs760126835
NM_025114.4(CEP290):c.2400T>C (p.Asn800=) rs2038497441
NM_025114.4(CEP290):c.2418A>G (p.Glu806=) rs2137663910
NM_025114.4(CEP290):c.2428A>C (p.Arg810=) rs2137663513
NM_025114.4(CEP290):c.243A>T (p.Ala81=)
NM_025114.4(CEP290):c.2466G>A (p.Leu822=) rs2137662331
NM_025114.4(CEP290):c.246A>G (p.Lys82=) rs761233532
NM_025114.4(CEP290):c.2478C>T (p.Tyr826=)
NM_025114.4(CEP290):c.2483+10T>G rs1327914633
NM_025114.4(CEP290):c.2483+13G>A
NM_025114.4(CEP290):c.2483+15A>G
NM_025114.4(CEP290):c.2483+19C>T
NM_025114.4(CEP290):c.2483+7G>T rs886038692
NM_025114.4(CEP290):c.2484-12T>C
NM_025114.4(CEP290):c.2484-13G>T
NM_025114.4(CEP290):c.2484-18G>A
NM_025114.4(CEP290):c.2484-18G>T
NM_025114.4(CEP290):c.2484-18GTTTT[2] rs745522483
NM_025114.4(CEP290):c.2484-18GTTTT[5] rs745522483
NM_025114.4(CEP290):c.2484-18del
NM_025114.4(CEP290):c.2484-8G>A rs1436691712
NM_025114.4(CEP290):c.2484-8G>T
NM_025114.4(CEP290):c.250+10T>C rs1317384355
NM_025114.4(CEP290):c.250+11T>A
NM_025114.4(CEP290):c.250+13G>A
NM_025114.4(CEP290):c.250+14A>G
NM_025114.4(CEP290):c.250+16A>G
NM_025114.4(CEP290):c.250+20T>C
NM_025114.4(CEP290):c.250+9C>G rs2040519029
NM_025114.4(CEP290):c.251-20del rs879405859
NM_025114.4(CEP290):c.251-4del rs759170743
NM_025114.4(CEP290):c.251-4dup
NM_025114.4(CEP290):c.2533A>C (p.Arg845=) rs371475408
NM_025114.4(CEP290):c.2538A>G (p.Lys846=)
NM_025114.4(CEP290):c.2544G>A (p.Glu848=) rs1201358340
NM_025114.4(CEP290):c.2547T>C (p.Asp849=) rs1417219342
NM_025114.4(CEP290):c.2550A>G (p.Gln850=)
NM_025114.4(CEP290):c.2559A>G (p.Gln853=)
NM_025114.4(CEP290):c.2565T>C (p.Ala855=)
NM_025114.4(CEP290):c.2568A>C (p.Ile856=)
NM_025114.4(CEP290):c.2574A>G (p.Val858=) rs768235992
NM_025114.4(CEP290):c.2583T>C (p.Tyr861=)
NM_025114.4(CEP290):c.2586+20C>A
NM_025114.4(CEP290):c.2587-10C>G rs2137619649
NM_025114.4(CEP290):c.2587-14G>T
NM_025114.4(CEP290):c.2587-16A>T
NM_025114.4(CEP290):c.2587-17G>A
NM_025114.4(CEP290):c.2587-20A>G
NM_025114.4(CEP290):c.258A>G (p.Gln86=)
NM_025114.4(CEP290):c.259T>C (p.Leu87=)
NM_025114.4(CEP290):c.2640A>C (p.Ala880=) rs2137617832
NM_025114.4(CEP290):c.2646T>C (p.Asn882=) rs2038318253
NM_025114.4(CEP290):c.2652G>A (p.Arg884=) rs2137617412
NM_025114.4(CEP290):c.2655A>G (p.Lys885=)
NM_025114.4(CEP290):c.2661T>C (p.Thr887=) rs2137617168
NM_025114.4(CEP290):c.2673G>A (p.Val891=)
NM_025114.4(CEP290):c.267T>G (p.Thr89=)
NM_025114.4(CEP290):c.2694G>A (p.Arg898=) rs2038314186
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2706C>G (p.Thr902=)
NM_025114.4(CEP290):c.2730T>C (p.Leu910=)
NM_025114.4(CEP290):c.273A>G (p.Val91=) rs768434171
NM_025114.4(CEP290):c.2757T>C (p.Asn919=)
NM_025114.4(CEP290):c.2761T>C (p.Leu921=)
NM_025114.4(CEP290):c.2763G>A (p.Leu921=) rs760283430
NM_025114.4(CEP290):c.2784T>G (p.Val928=)
NM_025114.4(CEP290):c.2817+10A>G
NM_025114.4(CEP290):c.2817+10A>T rs2137611795
NM_025114.4(CEP290):c.2817+14T>C
NM_025114.4(CEP290):c.2817+16A>G
NM_025114.4(CEP290):c.2817+17T>C
NM_025114.4(CEP290):c.2817+17T>G
NM_025114.4(CEP290):c.2817+19T>A
NM_025114.4(CEP290):c.2818-10A>G rs2137544573
NM_025114.4(CEP290):c.2818-14C>A
NM_025114.4(CEP290):c.2818-14C>T
NM_025114.4(CEP290):c.2818-15T>A
NM_025114.4(CEP290):c.2818-20G>A
NM_025114.4(CEP290):c.2818-4A>G rs2137544449
NM_025114.4(CEP290):c.2818-6A>G
NM_025114.4(CEP290):c.2826C>T (p.Ala942=) rs1456663660
NM_025114.4(CEP290):c.282G>A (p.Leu94=)
NM_025114.4(CEP290):c.2841A>T (p.Ala947=) rs1252435155
NM_025114.4(CEP290):c.2844T>A (p.Ala948=) rs2137543585
NM_025114.4(CEP290):c.2847C>T (p.Leu949=)
NM_025114.4(CEP290):c.2853A>G (p.Lys951=) rs2038009620
NM_025114.4(CEP290):c.2874T>G (p.Ser958=)
NM_025114.4(CEP290):c.2890C>T (p.Leu964=) rs1237834262
NM_025114.4(CEP290):c.2898T>C (p.Asn966=) rs2137542191
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.2931G>A (p.Arg977=)
NM_025114.4(CEP290):c.2934C>T (p.Asp978=) rs2038000673
NM_025114.4(CEP290):c.2952T>C (p.Asn984=) rs1007548055
NM_025114.4(CEP290):c.2965A>C (p.Arg989=) rs2037997734
NM_025114.4(CEP290):c.297+10T>C rs2138257173
NM_025114.4(CEP290):c.297+11T>C
NM_025114.4(CEP290):c.297+7C>G
NM_025114.4(CEP290):c.297+8T>A rs2138257277
NM_025114.4(CEP290):c.297+9T>C rs2138257225
NM_025114.4(CEP290):c.298-15G>A
NM_025114.4(CEP290):c.298-16G>A rs531851010
NM_025114.4(CEP290):c.298-16G>C rs531851010
NM_025114.4(CEP290):c.298-16G>T
NM_025114.4(CEP290):c.298-20T>G
NM_025114.4(CEP290):c.298-7C>T rs2040376906
NM_025114.4(CEP290):c.2986C>T (p.Leu996=) rs759867592
NM_025114.4(CEP290):c.2991+17C>T
NM_025114.4(CEP290):c.2991+20G>T
NM_025114.4(CEP290):c.2992-10C>G rs2137426807
NM_025114.4(CEP290):c.2992-11C>T
NM_025114.4(CEP290):c.2992-17A>G
NM_025114.4(CEP290):c.2992-18T>C
NM_025114.4(CEP290):c.2992-20del
NM_025114.4(CEP290):c.2992-6dup rs2137426720
NM_025114.4(CEP290):c.2992-7T>C
NM_025114.4(CEP290):c.2997A>G (p.Glu999=) rs2137426535
NM_025114.4(CEP290):c.3000C>T (p.Asn1000=)
NM_025114.4(CEP290):c.3018A>G (p.Gln1006=)
NM_025114.4(CEP290):c.3036A>G (p.Lys1012=) rs2137424983
NM_025114.4(CEP290):c.303T>C (p.Ala101=) rs2040376122
NM_025114.4(CEP290):c.3045G>A (p.Glu1015=) rs2137424685
NM_025114.4(CEP290):c.3066C>T (p.His1022=)
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=) rs779561006
NM_025114.4(CEP290):c.3081C>T (p.Ala1027=)
NM_025114.4(CEP290):c.3093A>G (p.Glu1031=)
NM_025114.4(CEP290):c.309G>A (p.Gln103=)
NM_025114.4(CEP290):c.30A>C (p.Ile10=)
NM_025114.4(CEP290):c.3103+13A>G
NM_025114.4(CEP290):c.3103+15T>C
NM_025114.4(CEP290):c.3103+17T>C
NM_025114.4(CEP290):c.3103+19A>G
NM_025114.4(CEP290):c.3104-11A>T
NM_025114.4(CEP290):c.3104-14A>G
NM_025114.4(CEP290):c.3104-16A>G
NM_025114.4(CEP290):c.3104-8G>A
NM_025114.4(CEP290):c.3104-8G>T
NM_025114.4(CEP290):c.3104-9T>C
NM_025114.4(CEP290):c.312T>G (p.Ser104=) rs2138217275
NM_025114.4(CEP290):c.3153C>T (p.Asp1051=) rs2037238077
NM_025114.4(CEP290):c.3156T>A (p.Ile1052=) rs779569679
NM_025114.4(CEP290):c.315A>G (p.Ala105=)
NM_025114.4(CEP290):c.3184C>T (p.Leu1062=) rs2137366862
NM_025114.4(CEP290):c.318T>G (p.Gly106=) rs2138217159
NM_025114.4(CEP290):c.3204T>C (p.Asn1068=)
NM_025114.4(CEP290):c.3210G>A (p.Arg1070=) rs1592539040
NM_025114.4(CEP290):c.3214C>A (p.Arg1072=) rs780870106
NM_025114.4(CEP290):c.321A>T (p.Gly107=)
NM_025114.4(CEP290):c.3249A>G (p.Leu1083=)
NM_025114.4(CEP290):c.3250C>A (p.Arg1084=) rs372918770
NM_025114.4(CEP290):c.3252G>A (p.Arg1084=) rs2137363882
NM_025114.4(CEP290):c.3267A>G (p.Gln1089=)
NM_025114.4(CEP290):c.3288A>G (p.Glu1096=)
NM_025114.4(CEP290):c.3297C>G (p.Thr1099=) rs1277434581
NM_025114.4(CEP290):c.3309+14A>C
NM_025114.4(CEP290):c.3309+16T>G
NM_025114.4(CEP290):c.3309+19T>C
NM_025114.4(CEP290):c.3309+8A>T rs2137362040
NM_025114.4(CEP290):c.3310-13T>A
NM_025114.4(CEP290):c.3310-5C>A rs2137345196
NM_025114.4(CEP290):c.3310-6C>T rs774139392
NM_025114.4(CEP290):c.3310-7del rs2037151700
NM_025114.4(CEP290):c.3315C>T (p.Thr1105=)
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=) rs2037149786
NM_025114.4(CEP290):c.3330T>C (p.Asp1110=)
NM_025114.4(CEP290):c.333G>T (p.Arg111=) rs2138216422
NM_025114.4(CEP290):c.3363A>G (p.Glu1121=)
NM_025114.4(CEP290):c.3378G>A (p.Val1126=) rs546939043
NM_025114.4(CEP290):c.3396T>C (p.Asp1132=) rs1291200387
NM_025114.4(CEP290):c.3399T>C (p.Ala1133=)
NM_025114.4(CEP290):c.3405G>A (p.Arg1135=)
NM_025114.4(CEP290):c.3426G>A (p.Glu1142=) rs2137341818
NM_025114.4(CEP290):c.3441A>G (p.Glu1147=) rs2137341183
NM_025114.4(CEP290):c.3461+10T>A
NM_025114.4(CEP290):c.3461+14A>T rs1469392631
NM_025114.4(CEP290):c.3461+15G>A rs2137340039
NM_025114.4(CEP290):c.3461+17A>G
NM_025114.4(CEP290):c.3461+7G>T rs1565852636
NM_025114.4(CEP290):c.3461+8C>T rs1370236429
NM_025114.4(CEP290):c.3461+9A>G
NM_025114.4(CEP290):c.3462-10C>A rs2137305901
NM_025114.4(CEP290):c.3462-12A>T
NM_025114.4(CEP290):c.3462-16C>T
NM_025114.4(CEP290):c.3462-18T>C
NM_025114.4(CEP290):c.3462-19del
NM_025114.4(CEP290):c.3462-5C>T rs2036980891
NM_025114.4(CEP290):c.3477T>C (p.Ser1159=) rs2137305444
NM_025114.4(CEP290):c.3486C>G (p.Ala1162=) rs376583223
NM_025114.4(CEP290):c.348A>G (p.Glu116=)
NM_025114.4(CEP290):c.3495A>G (p.Gln1165=)
NM_025114.4(CEP290):c.3513A>G (p.Ala1171=)
NM_025114.4(CEP290):c.351T>C (p.Ile117=)
NM_025114.4(CEP290):c.3528G>A (p.Arg1176=)
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=) rs756488924
NM_025114.4(CEP290):c.3537A>G (p.Glu1179=)
NM_025114.4(CEP290):c.3540A>G (p.Val1180=)
NM_025114.4(CEP290):c.3543G>A (p.Glu1181=) rs2137302632
NM_025114.4(CEP290):c.3546C>A (p.Ser1182=)
NM_025114.4(CEP290):c.3546C>G (p.Ser1182=) rs760639256
NM_025114.4(CEP290):c.3546C>T (p.Ser1182=)
NM_025114.4(CEP290):c.354C>T (p.Cys118=) rs370725951
NM_025114.4(CEP290):c.3552A>G (p.Arg1184=) rs2137302452
NM_025114.4(CEP290):c.3558A>G (p.Gln1186=) rs1189042096
NM_025114.4(CEP290):c.3573+10G>T
NM_025114.4(CEP290):c.3573+13T>C rs2137301378
NM_025114.4(CEP290):c.3573+17C>A
NM_025114.4(CEP290):c.3573+7G>T rs2137301511
NM_025114.4(CEP290):c.3574-15T>G rs565414938
NM_025114.4(CEP290):c.3574-16_3574-15insA
NM_025114.4(CEP290):c.3574-17A>G
NM_025114.4(CEP290):c.3574-19A>G rs2137281532
NM_025114.4(CEP290):c.3574-20T>A
NM_025114.4(CEP290):c.3574-5A>G rs2036853648
NM_025114.4(CEP290):c.3574-7A>T
NM_025114.4(CEP290):c.3574-7del
NM_025114.4(CEP290):c.3591G>A (p.Lys1197=)
NM_025114.4(CEP290):c.3603C>T (p.Ala1201=)
NM_025114.4(CEP290):c.3609G>A (p.Leu1203=)
NM_025114.4(CEP290):c.3624C>T (p.Val1208=) rs1331516324
NM_025114.4(CEP290):c.3630T>G (p.Leu1210=)
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=)
NM_025114.4(CEP290):c.3651T>C (p.Ala1217=)
NM_025114.4(CEP290):c.3660G>A (p.Lys1220=)
NM_025114.4(CEP290):c.3669A>C (p.Ser1223=) rs968207045
NM_025114.4(CEP290):c.3669A>G (p.Ser1223=)
NM_025114.4(CEP290):c.3675A>T (p.Thr1225=)
NM_025114.4(CEP290):c.3708G>A (p.Leu1236=)
NM_025114.4(CEP290):c.3714A>G (p.Leu1238=)
NM_025114.4(CEP290):c.3723A>G (p.Lys1241=) rs1592856911
NM_025114.4(CEP290):c.3729T>C (p.Asp1243=)
NM_025114.4(CEP290):c.372A>G (p.Leu124=)
NM_025114.4(CEP290):c.3732A>G (p.Glu1244=) rs2137277122
NM_025114.4(CEP290):c.3744T>C (p.Ala1248=) rs2137276523
NM_025114.4(CEP290):c.3756T>C (p.Ala1252=)
NM_025114.4(CEP290):c.3780A>G (p.Ala1260=)
NM_025114.4(CEP290):c.3787C>T (p.Leu1263=) rs370395204
NM_025114.4(CEP290):c.3807T>C (p.Ser1269=) rs1405878362
NM_025114.4(CEP290):c.3810A>C (p.Leu1270=)
NM_025114.4(CEP290):c.3810A>T (p.Leu1270=)
NM_025114.4(CEP290):c.3831T>A (p.Ala1277=)
NM_025114.4(CEP290):c.3831T>C (p.Ala1277=)
NM_025114.4(CEP290):c.3832T>C (p.Leu1278=)
NM_025114.4(CEP290):c.3855G>A (p.Lys1285=) rs766410040
NM_025114.4(CEP290):c.3867A>G (p.Thr1289=) rs1387223378
NM_025114.4(CEP290):c.3879A>G (p.Leu1293=) rs2137272114
NM_025114.4(CEP290):c.3885T>C (p.Asn1295=)
NM_025114.4(CEP290):c.3888C>T (p.Asp1296=) rs2137271829
NM_025114.4(CEP290):c.3906A>G (p.Gln1302=)
NM_025114.4(CEP290):c.3909A>G (p.Glu1303=) rs2137271264
NM_025114.4(CEP290):c.3915A>G (p.Lys1305=)
NM_025114.4(CEP290):c.3921T>C (p.Ser1307=) rs369567962
NM_025114.4(CEP290):c.3924A>G (p.Gln1308=) rs2036816675
NM_025114.4(CEP290):c.3930A>G (p.Glu1310=) rs775663498
NM_025114.4(CEP290):c.3945G>A (p.Glu1315=) rs1367935035
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=) rs1361449401
NM_025114.4(CEP290):c.3954A>G (p.Thr1318=)
NM_025114.4(CEP290):c.3967T>C (p.Leu1323=)
NM_025114.4(CEP290):c.3972A>G (p.Lys1324=) rs2137269381
NM_025114.4(CEP290):c.3981C>G (p.Gly1327=)
NM_025114.4(CEP290):c.3987A>G (p.Glu1329=) rs1224624148
NM_025114.4(CEP290):c.39T>G (p.Val13=) rs2040642206
NM_025114.4(CEP290):c.4008G>A (p.Lys1336=)
NM_025114.4(CEP290):c.4020A>C (p.Gly1340=)
NM_025114.4(CEP290):c.4029+14C>T
NM_025114.4(CEP290):c.4029+17G>A
NM_025114.4(CEP290):c.4029+17G>C
NM_025114.4(CEP290):c.4029+17G>T
NM_025114.4(CEP290):c.4029+7A>G
NM_025114.4(CEP290):c.4030-11G>A
NM_025114.4(CEP290):c.4030-14A>T
NM_025114.4(CEP290):c.4030-19T>C
NM_025114.4(CEP290):c.4030-5del rs2137252186
NM_025114.4(CEP290):c.4030-9A>T
NM_025114.4(CEP290):c.4035C>A (p.Ile1345=)
NM_025114.4(CEP290):c.4038C>T (p.Asn1346=) rs2137251909
NM_025114.4(CEP290):c.4044T>C (p.His1348=) rs771298371
NM_025114.4(CEP290):c.4050A>G (p.Lys1350=)
NM_025114.4(CEP290):c.405A>G (p.Glu135=)
NM_025114.4(CEP290):c.4071A>G (p.Gln1357=)
NM_025114.4(CEP290):c.4074A>G (p.Glu1358=) rs1031453040
NM_025114.4(CEP290):c.4077T>C (p.Leu1359=) rs2137250800
NM_025114.4(CEP290):c.4087C>A (p.Arg1363=) rs181121175
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.4098C>A (p.Val1366=)
NM_025114.4(CEP290):c.4098C>T (p.Val1366=)
NM_025114.4(CEP290):c.4101G>A (p.Lys1367=)
NM_025114.4(CEP290):c.4110A>G (p.Glu1370=) rs1190210677
NM_025114.4(CEP290):c.4116A>C (p.Ile1372=) rs2137249532
NM_025114.4(CEP290):c.412T>C (p.Leu138=)
NM_025114.4(CEP290):c.4137T>C (p.Ile1379=)
NM_025114.4(CEP290):c.4152T>A (p.Arg1384=) rs2137248717
NM_025114.4(CEP290):c.4167T>G (p.Leu1389=) rs2137248362
NM_025114.4(CEP290):c.4176A>G (p.Glu1392=) rs2137248119
NM_025114.4(CEP290):c.4179T>C (p.Ile1393=)
NM_025114.4(CEP290):c.4194+10T>C
NM_025114.4(CEP290):c.4194+11A>G
NM_025114.4(CEP290):c.4194+11A>T
NM_025114.4(CEP290):c.4194+13A>G
NM_025114.4(CEP290):c.4194+16T>C
NM_025114.4(CEP290):c.4194+17A>T
NM_025114.4(CEP290):c.4194+19T>G
NM_025114.4(CEP290):c.4194+8T>G
NM_025114.4(CEP290):c.4194+8_4194+12del rs1223134777
NM_025114.4(CEP290):c.4195-13G>A
NM_025114.4(CEP290):c.4195-13G>T
NM_025114.4(CEP290):c.4195-18A>G
NM_025114.4(CEP290):c.4195-19C>A
NM_025114.4(CEP290):c.4195-5T>C rs1014066992
NM_025114.4(CEP290):c.4195-8T>C rs2137221868
NM_025114.4(CEP290):c.4200T>C (p.His1400=) rs2137221395
NM_025114.4(CEP290):c.4224T>C (p.Asp1408=) rs2137220817
NM_025114.4(CEP290):c.4239C>T (p.Asp1413=)
NM_025114.4(CEP290):c.4240C>T (p.Leu1414=)
NM_025114.4(CEP290):c.4254A>G (p.Leu1418=)
NM_025114.4(CEP290):c.4263T>C (p.Phe1421=) rs2137219486
NM_025114.4(CEP290):c.4285C>T (p.Leu1429=) rs2137218765
NM_025114.4(CEP290):c.4296A>C (p.Ala1432=)
NM_025114.4(CEP290):c.4296A>G (p.Ala1432=) rs2137218338
NM_025114.4(CEP290):c.4302+10A>G
NM_025114.4(CEP290):c.4302+12T>G
NM_025114.4(CEP290):c.4302+13A>G
NM_025114.4(CEP290):c.4302+18T>G
NM_025114.4(CEP290):c.4302+19G>A
NM_025114.4(CEP290):c.4302+8T>C
NM_025114.4(CEP290):c.4302+9G>C rs2137217907
NM_025114.4(CEP290):c.4303-12A>G
NM_025114.4(CEP290):c.4303-16T>C
NM_025114.4(CEP290):c.4303-17A>G
NM_025114.4(CEP290):c.4303-18C>A
NM_025114.4(CEP290):c.4303-18C>T
NM_025114.4(CEP290):c.4303-6T>C
NM_025114.4(CEP290):c.4303-7T>C
NM_025114.4(CEP290):c.4305T>C (p.Phe1435=) rs138095601
NM_025114.4(CEP290):c.4326C>T (p.Ile1442=)
NM_025114.4(CEP290):c.4338T>C (p.Ser1446=)
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)
NM_025114.4(CEP290):c.435T>C (p.Asn145=) rs2040367783
NM_025114.4(CEP290):c.4365C>A (p.Ile1455=) rs552731286
NM_025114.4(CEP290):c.4371A>G (p.Leu1457=) rs2137212322
NM_025114.4(CEP290):c.4380T>A (p.Ile1460=) rs1014763442
NM_025114.4(CEP290):c.4380T>C (p.Ile1460=)
NM_025114.4(CEP290):c.438G>A (p.Glu146=) rs2138213152
NM_025114.4(CEP290):c.4402C>T (p.Leu1468=) rs1565838540
NM_025114.4(CEP290):c.4407A>G (p.Glu1469=) rs2137211343
NM_025114.4(CEP290):c.441+11T>C
NM_025114.4(CEP290):c.441+15T>G
NM_025114.4(CEP290):c.441+16T>G
NM_025114.4(CEP290):c.441+9C>A
NM_025114.4(CEP290):c.442-14_442-11del
NM_025114.4(CEP290):c.442-15T>G
NM_025114.4(CEP290):c.442-17T>A rs2040048473
NM_025114.4(CEP290):c.442-18T>C
NM_025114.4(CEP290):c.442-18_442-17insA
NM_025114.4(CEP290):c.442-19T>C rs113132803
NM_025114.4(CEP290):c.442-19_442-18insA
NM_025114.4(CEP290):c.442-20T>A
NM_025114.4(CEP290):c.442-23_442-20del rs746139755
NM_025114.4(CEP290):c.442-7A>G rs1252546173
NM_025114.4(CEP290):c.442-8T>G
NM_025114.4(CEP290):c.4428A>G (p.Ser1476=) rs1206552589
NM_025114.4(CEP290):c.4429C>T (p.Leu1477=) rs2137210634
NM_025114.4(CEP290):c.4437+10A>C
NM_025114.4(CEP290):c.4437+11G>T
NM_025114.4(CEP290):c.4437+17G>A
NM_025114.4(CEP290):c.4437+19A>G
NM_025114.4(CEP290):c.4437+7A>T rs2137210220
NM_025114.4(CEP290):c.4438-10A>C
NM_025114.4(CEP290):c.4438-12T>C
NM_025114.4(CEP290):c.4438-13_4438-9del
NM_025114.4(CEP290):c.4438-17T>C
NM_025114.4(CEP290):c.4438-20T>A
NM_025114.4(CEP290):c.4438-4G>T rs2036460485
NM_025114.4(CEP290):c.4438-8_4438-7del rs2137190016
NM_025114.4(CEP290):c.4443A>G (p.Leu1481=) rs2036459644
NM_025114.4(CEP290):c.4446A>G (p.Lys1482=)
NM_025114.4(CEP290):c.4473A>G (p.Ala1491=)
NM_025114.4(CEP290):c.447T>A (p.Ala149=) rs2138114644
NM_025114.4(CEP290):c.447T>C (p.Ala149=)
NM_025114.4(CEP290):c.447T>G (p.Ala149=)
NM_025114.4(CEP290):c.4482T>C (p.Asn1494=) rs2137188752
NM_025114.4(CEP290):c.4486C>T (p.Leu1496=) rs1026690396
NM_025114.4(CEP290):c.4488G>A (p.Leu1496=) rs2137188485
NM_025114.4(CEP290):c.4506C>T (p.Ile1502=) rs1592837830
NM_025114.4(CEP290):c.4512A>G (p.Glu1504=) rs1177088224
NM_025114.4(CEP290):c.4513C>T (p.Leu1505=) rs1481340734
NM_025114.4(CEP290):c.4515G>A (p.Leu1505=)
NM_025114.4(CEP290):c.4539A>C (p.Ala1513=) rs750049263
NM_025114.4(CEP290):c.4539A>G (p.Ala1513=)
NM_025114.4(CEP290):c.4542A>G (p.Glu1514=) rs765011862
NM_025114.4(CEP290):c.4548A>G (p.Glu1516=) rs2137186609
NM_025114.4(CEP290):c.4551G>A (p.Lys1517=)
NM_025114.4(CEP290):c.4566A>C (p.Leu1522=) rs763991371
NM_025114.4(CEP290):c.4569C>T (p.Gly1523=)
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.4590A>G (p.Lys1530=)
NM_025114.4(CEP290):c.4599C>T (p.His1533=) rs932264519
NM_025114.4(CEP290):c.45A>G (p.Pro15=) rs1383191175
NM_025114.4(CEP290):c.4603T>C (p.Leu1535=)
NM_025114.4(CEP290):c.4614T>G (p.Ala1538=)
NM_025114.4(CEP290):c.4629A>C (p.Ala1543=) rs2137183853
NM_025114.4(CEP290):c.462G>A (p.Glu154=)
NM_025114.4(CEP290):c.4638A>G (p.Gln1546=)
NM_025114.4(CEP290):c.4644G>A (p.Arg1548=) rs2137183393
NM_025114.4(CEP290):c.4650T>C (p.Asn1550=) rs2137183194
NM_025114.4(CEP290):c.4653A>G (p.Gln1551=) rs2137183063
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=) rs2137182509
NM_025114.4(CEP290):c.4680A>G (p.Gln1560=)
NM_025114.4(CEP290):c.4683T>A (p.Arg1561=) rs2137182194
NM_025114.4(CEP290):c.4683T>C (p.Arg1561=) rs2137182194
NM_025114.4(CEP290):c.468A>G (p.Glu156=) rs967600444
NM_025114.4(CEP290):c.4692A>G (p.Glu1564=) rs2137181983
NM_025114.4(CEP290):c.4698C>T (p.Ala1566=)
NM_025114.4(CEP290):c.4701A>G (p.Arg1567=) rs2137181574
NM_025114.4(CEP290):c.4704+11A>T
NM_025114.4(CEP290):c.4704+12T>C rs2137181292
NM_025114.4(CEP290):c.4704+13_4704+17del
NM_025114.4(CEP290):c.4704+19A>C
NM_025114.4(CEP290):c.4704+7T>C
NM_025114.4(CEP290):c.4705-11C>G
NM_025114.4(CEP290):c.4705-12T>C
NM_025114.4(CEP290):c.4705-15T>C
NM_025114.4(CEP290):c.4705-17G>A
NM_025114.4(CEP290):c.4705-19T>G
NM_025114.4(CEP290):c.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.471T>C (p.Asn157=)
NM_025114.4(CEP290):c.4737A>G (p.Glu1579=) rs2137169332
NM_025114.4(CEP290):c.4758C>T (p.His1586=) rs896218309
NM_025114.4(CEP290):c.4785A>C (p.Ser1595=)
NM_025114.4(CEP290):c.4785A>G (p.Ser1595=)
NM_025114.4(CEP290):c.4788A>G (p.Leu1596=) rs775682517
NM_025114.4(CEP290):c.4794A>G (p.Lys1598=) rs760100036
NM_025114.4(CEP290):c.4806G>C (p.Thr1602=)
NM_025114.4(CEP290):c.4806G>T (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.4812+15A>T rs1011820485
NM_025114.4(CEP290):c.4812+16C>G
NM_025114.4(CEP290):c.4812+18_4812+19del rs1362916745
NM_025114.4(CEP290):c.4813-10T>C
NM_025114.4(CEP290):c.4813-11A>G
NM_025114.4(CEP290):c.4813-4A>G rs2036324053
NM_025114.4(CEP290):c.4813-5T>C rs2137156921
NM_025114.4(CEP290):c.4813-7T>A rs2137156966
NM_025114.4(CEP290):c.4813-9A>G
NM_025114.4(CEP290):c.4815T>C (p.Asp1605=) rs2137156688
NM_025114.4(CEP290):c.4833C>T (p.Pro1611=) rs763271689
NM_025114.4(CEP290):c.4848C>A (p.Thr1616=)
NM_025114.4(CEP290):c.4857T>C (p.His1619=)
NM_025114.4(CEP290):c.4867C>T (p.Leu1623=)
NM_025114.4(CEP290):c.4887A>G (p.Thr1629=) rs1179886652
NM_025114.4(CEP290):c.4899A>G (p.Gln1633=)
NM_025114.4(CEP290):c.489A>G (p.Arg163=)
NM_025114.4(CEP290):c.4908T>G (p.Ser1636=)
NM_025114.4(CEP290):c.4914C>T (p.Ser1638=) rs2137153390
NM_025114.4(CEP290):c.4926C>A (p.Val1642=)
NM_025114.4(CEP290):c.4926C>G (p.Val1642=)
NM_025114.4(CEP290):c.4944A>G (p.Ser1648=)
NM_025114.4(CEP290):c.4947A>G (p.Gln1649=) rs2137152427
NM_025114.4(CEP290):c.495+16A>G
NM_025114.4(CEP290):c.495+7A>T rs2138113223
NM_025114.4(CEP290):c.495+9T>A
NM_025114.4(CEP290):c.495+9T>G rs2138113170
NM_025114.4(CEP290):c.4950T>C (p.Asp1650=)
NM_025114.4(CEP290):c.496-12C>T rs2138102416
NM_025114.4(CEP290):c.4977A>G (p.Glu1659=)
NM_025114.4(CEP290):c.5010A>G (p.Leu1670=)
NM_025114.4(CEP290):c.5012+13A>G
NM_025114.4(CEP290):c.5012+19T>C
NM_025114.4(CEP290):c.5012+20T>A
NM_025114.4(CEP290):c.5012+20T>C
NM_025114.4(CEP290):c.5012+7C>A
NM_025114.4(CEP290):c.5012+7_5012+8del rs2137150584
NM_025114.4(CEP290):c.5013-17_5013-16del rs774225453
NM_025114.4(CEP290):c.5013-19A>G
NM_025114.4(CEP290):c.5013-20C>T rs1299195353
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
NM_025114.4(CEP290):c.5013-30CA[7]
NM_025114.4(CEP290):c.5013-6C>T rs2137107114
NM_025114.4(CEP290):c.5013-7A>G rs762217156
NM_025114.4(CEP290):c.5040G>A (p.Val1680=) rs2137106401
NM_025114.4(CEP290):c.504T>C (p.Arg168=) rs2138101728
NM_025114.4(CEP290):c.5055G>T (p.Ala1685=)
NM_025114.4(CEP290):c.5067T>C (p.Asp1689=) rs2137105805
NM_025114.4(CEP290):c.507A>G (p.Leu169=) rs2138101663
NM_025114.4(CEP290):c.5091A>G (p.Ser1697=)
NM_025114.4(CEP290):c.5097G>A (p.Lys1699=)
NM_025114.4(CEP290):c.5100G>A (p.Glu1700=) rs2137104806
NM_025114.4(CEP290):c.5103A>G (p.Ser1701=) rs2137104709
NM_025114.4(CEP290):c.5109T>C (p.Cys1703=)
NM_025114.4(CEP290):c.5121A>G (p.Glu1707=) rs2137104323
NM_025114.4(CEP290):c.5130T>C (p.Ala1710=)
NM_025114.4(CEP290):c.5157A>G (p.Pro1719=) rs1215659876
NM_025114.4(CEP290):c.516+10T>G rs2138101103
NM_025114.4(CEP290):c.516+12A>C
NM_025114.4(CEP290):c.516+13G>A
NM_025114.4(CEP290):c.516+15G>A
NM_025114.4(CEP290):c.516+19T>A
NM_025114.4(CEP290):c.516+9T>C rs771222198
NM_025114.4(CEP290):c.5166A>G (p.Thr1722=) rs970862392
NM_025114.4(CEP290):c.517-18G>T
NM_025114.4(CEP290):c.517-5T>G
NM_025114.4(CEP290):c.517-6C>T
NM_025114.4(CEP290):c.5178A>G (p.Leu1726=) rs2137102455
NM_025114.4(CEP290):c.5181A>G (p.Val1727=) rs1002651698
NM_025114.4(CEP290):c.5187G>A (p.Arg1729=)
NM_025114.4(CEP290):c.5190A>G (p.Leu1730=) rs1203367950
NM_025114.4(CEP290):c.5193G>A (p.Lys1731=) rs2137101998
NM_025114.4(CEP290):c.519T>C (p.Asn173=)
NM_025114.4(CEP290):c.51C>T (p.Asp17=) rs2138305629
NM_025114.4(CEP290):c.5205C>T (p.Ala1735=)
NM_025114.4(CEP290):c.5226+11_5226+13del
NM_025114.4(CEP290):c.5226+12_5226+16del
NM_025114.4(CEP290):c.5226+18A>C
NM_025114.4(CEP290):c.5226+7A>G rs2036089729
NM_025114.4(CEP290):c.5226+7_5226+8insGAC rs2036089498
NM_025114.4(CEP290):c.5226+9C>G rs2137100623
NM_025114.4(CEP290):c.5226+9C>T
NM_025114.4(CEP290):c.5227-13G>C
NM_025114.4(CEP290):c.5227-15T>G
NM_025114.4(CEP290):c.5227-4T>G rs2137083466
NM_025114.4(CEP290):c.5236C>A (p.Arg1746=) rs774427529
NM_025114.4(CEP290):c.5241A>C (p.Ala1747=)
NM_025114.4(CEP290):c.5250A>G (p.Glu1750=)
NM_025114.4(CEP290):c.5254C>A (p.Arg1752=) rs748471942
NM_025114.4(CEP290):c.5259A>G (p.Ala1753=)
NM_025114.4(CEP290):c.525A>G (p.Gln175=) rs2039993836
NM_025114.4(CEP290):c.5268A>G (p.Thr1756=)
NM_025114.4(CEP290):c.5277T>C (p.Ala1759=)
NM_025114.4(CEP290):c.5298A>C (p.Ala1766=) rs2137081487
NM_025114.4(CEP290):c.52C>T (p.Leu18=) rs2138305571
NM_025114.4(CEP290):c.5301T>G (p.Thr1767=) rs891496300
NM_025114.4(CEP290):c.5313G>A (p.Glu1771=) rs2137081165
NM_025114.4(CEP290):c.5316C>T (p.Ala1772=)
NM_025114.4(CEP290):c.5319T>C (p.His1773=)
NM_025114.4(CEP290):c.5325T>C (p.Asn1775=)
NM_025114.4(CEP290):c.5340T>C (p.Val1780=) rs2137080571
NM_025114.4(CEP290):c.5346A>G (p.Arg1782=)
NM_025114.4(CEP290):c.534G>A (p.Gln178=)
NM_025114.4(CEP290):c.5364+14C>A
NM_025114.4(CEP290):c.5364+15G>A
NM_025114.4(CEP290):c.5364+17G>A
NM_025114.4(CEP290):c.5364+8T>A rs2137079741
NM_025114.4(CEP290):c.5364+8T>G
NM_025114.4(CEP290):c.5364+9C>T rs2137079700
NM_025114.4(CEP290):c.5365-12T>G
NM_025114.4(CEP290):c.5365-13T>C
NM_025114.4(CEP290):c.5365-17dup
NM_025114.4(CEP290):c.5365-8C>T
NM_025114.4(CEP290):c.5365-9T>C
NM_025114.4(CEP290):c.5367A>T (p.Thr1789=)
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.5409A>G (p.Glu1803=)
NM_025114.4(CEP290):c.5421A>C (p.Thr1807=)
NM_025114.4(CEP290):c.5439C>T (p.Asn1813=) rs2137059444
NM_025114.4(CEP290):c.5445A>C (p.Leu1815=) rs1401075815
NM_025114.4(CEP290):c.5455T>C (p.Leu1819=)
NM_025114.4(CEP290):c.5460T>C (p.Asn1820=)
NM_025114.4(CEP290):c.5499T>C (p.Tyr1833=)
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5508A>T (p.Ile1836=)
NM_025114.4(CEP290):c.5517G>A (p.Glu1839=)
NM_025114.4(CEP290):c.5529T>A (p.Ile1843=)
NM_025114.4(CEP290):c.552G>A (p.Gln184=)
NM_025114.4(CEP290):c.5535A>G (p.Gln1845=)
NM_025114.4(CEP290):c.5538G>A (p.Glu1846=)
NM_025114.4(CEP290):c.5559A>G (p.Gln1853=) rs2035884341
NM_025114.4(CEP290):c.555A>G (p.Lys185=) rs2138097181
NM_025114.4(CEP290):c.5574C>G (p.Thr1858=)
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=) rs775652694
NM_025114.4(CEP290):c.5581T>C (p.Leu1861=)
NM_025114.4(CEP290):c.5586+12T>C
NM_025114.4(CEP290):c.5586+14T>G
NM_025114.4(CEP290):c.5586+17C>T rs2137055900
NM_025114.4(CEP290):c.5586+19C>T
NM_025114.4(CEP290):c.5587-10T>A rs1592805772
NM_025114.4(CEP290):c.5587-12T>G
NM_025114.4(CEP290):c.5587-14A>G
NM_025114.4(CEP290):c.5587-15C>T
NM_025114.4(CEP290):c.5587-16dup
NM_025114.4(CEP290):c.5587-19G>A
NM_025114.4(CEP290):c.5587-7T>A
NM_025114.4(CEP290):c.5587-9A>C rs2035856064
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.5619A>G (p.Leu1873=) rs2035852547
NM_025114.4(CEP290):c.5625A>G (p.Glu1875=) rs754796813
NM_025114.4(CEP290):c.5631C>T (p.Leu1877=) rs2137050526
NM_025114.4(CEP290):c.5634A>G (p.Gln1878=)
NM_025114.4(CEP290):c.5649A>G (p.Lys1883=) rs2137050153
NM_025114.4(CEP290):c.5658C>T (p.Asn1886=)
NM_025114.4(CEP290):c.5676G>A (p.Val1892=) rs2137049568
NM_025114.4(CEP290):c.567A>G (p.Ser189=)
NM_025114.4(CEP290):c.5682A>G (p.Glu1894=)
NM_025114.4(CEP290):c.5689C>T (p.Leu1897=) rs2137049271
NM_025114.4(CEP290):c.5691A>G (p.Leu1897=)
NM_025114.4(CEP290):c.5709+12A>T
NM_025114.4(CEP290):c.5709+14C>A
NM_025114.4(CEP290):c.5709+17A>C
NM_025114.4(CEP290):c.5709+7G>A
NM_025114.4(CEP290):c.5710-13G>A
NM_025114.4(CEP290):c.5710-18C>A
NM_025114.4(CEP290):c.5710-18C>G
NM_025114.4(CEP290):c.5710-7_5710-5del
NM_025114.4(CEP290):c.5710-9T>C
NM_025114.4(CEP290):c.5715T>C (p.Ala1905=)
NM_025114.4(CEP290):c.5733G>A (p.Arg1911=)
NM_025114.4(CEP290):c.5739A>G (p.Glu1913=)
NM_025114.4(CEP290):c.5745T>C (p.Gly1915=) rs2035404611
NM_025114.4(CEP290):c.5757A>G (p.Gln1919=)
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=) rs1027531979
NM_025114.4(CEP290):c.5775T>C (p.Ile1925=)
NM_025114.4(CEP290):c.5784G>A (p.Lys1928=) rs2136964688
NM_025114.4(CEP290):c.5796A>G (p.Lys1932=)
NM_025114.4(CEP290):c.5799G>A (p.Glu1933=) rs2136964287
NM_025114.4(CEP290):c.57C>G (p.Pro19=)
NM_025114.4(CEP290):c.57C>T (p.Pro19=)
NM_025114.4(CEP290):c.5802G>A (p.Gly1934=)
NM_025114.4(CEP290):c.5805A>G (p.Glu1935=) rs2136964084
NM_025114.4(CEP290):c.5811T>C (p.Phe1937=)
NM_025114.4(CEP290):c.5823G>A (p.Lys1941=)
NM_025114.4(CEP290):c.5829G>A (p.Leu1943=) rs1195022621
NM_025114.4(CEP290):c.5838G>A (p.Leu1946=)
NM_025114.4(CEP290):c.5841G>A (p.Lys1947=) rs2136963237
NM_025114.4(CEP290):c.5853C>A (p.Ala1951=) rs2136962808
NM_025114.4(CEP290):c.5853C>G (p.Ala1951=) rs2136962808
NM_025114.4(CEP290):c.5853C>T (p.Ala1951=)
NM_025114.4(CEP290):c.5855+11A>C
NM_025114.4(CEP290):c.5855+11A>G
NM_025114.4(CEP290):c.5855+18T>A
NM_025114.4(CEP290):c.5855+18_5855+20del rs1442503417
NM_025114.4(CEP290):c.5856-13T>C
NM_025114.4(CEP290):c.5856-14A>G
NM_025114.4(CEP290):c.5856-16A>C
NM_025114.4(CEP290):c.5856-16A>G
NM_025114.4(CEP290):c.5856-16A>T rs372444243
NM_025114.4(CEP290):c.585A>G (p.Leu195=) rs2138096227
NM_025114.4(CEP290):c.5868G>A (p.Glu1956=)
NM_025114.4(CEP290):c.5889A>G (p.Lys1963=)
NM_025114.4(CEP290):c.5892A>G (p.Leu1964=) rs2136957684
NM_025114.4(CEP290):c.5901T>C (p.Thr1967=)
NM_025114.4(CEP290):c.5910T>C (p.Thr1970=) rs2136957326
NM_025114.4(CEP290):c.5925G>A (p.Leu1975=)
NM_025114.4(CEP290):c.5943G>A (p.Glu1981=)
NM_025114.4(CEP290):c.594A>G (p.Arg198=)
NM_025114.4(CEP290):c.5952A>G (p.Lys1984=)
NM_025114.4(CEP290):c.5956T>C (p.Leu1986=)
NM_025114.4(CEP290):c.5970A>G (p.Lys1990=)
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=)
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=) rs112738303
NM_025114.4(CEP290):c.6003G>A (p.Leu2001=) rs2035355059
NM_025114.4(CEP290):c.6011+13G>T
NM_025114.4(CEP290):c.6011+14_6011+15del rs1565811649
NM_025114.4(CEP290):c.6011+15G>A
NM_025114.4(CEP290):c.6011+16G>A
NM_025114.4(CEP290):c.6011+7dup
NM_025114.4(CEP290):c.6011+8A>G
NM_025114.4(CEP290):c.6012-11G>A
NM_025114.4(CEP290):c.6012-13_6012-12insA
NM_025114.4(CEP290):c.6012-14A>G
NM_025114.4(CEP290):c.6012-18T>C rs2035130236
NM_025114.4(CEP290):c.6012-4A>C rs760029406
NM_025114.4(CEP290):c.6012-4A>G
NM_025114.4(CEP290):c.6012-5C>A
NM_025114.4(CEP290):c.6012-9T>C rs2136914044
NM_025114.4(CEP290):c.6030T>A (p.Pro2010=)
NM_025114.4(CEP290):c.603C>T (p.Asp201=)
NM_025114.4(CEP290):c.6042T>C (p.Val2014=) rs2035125225
NM_025114.4(CEP290):c.6054A>G (p.Leu2018=) rs2136912612
NM_025114.4(CEP290):c.6057T>C (p.His2019=)
NM_025114.4(CEP290):c.6060A>G (p.Leu2020=) rs2035122755
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.6084A>G (p.Lys2028=) rs2136911467
NM_025114.4(CEP290):c.6087T>A (p.Leu2029=) rs1592770859
NM_025114.4(CEP290):c.6087T>C (p.Leu2029=)
NM_025114.4(CEP290):c.6102A>G (p.Lys2034=) rs752291080
NM_025114.4(CEP290):c.6105G>A (p.Gln2035=) rs754426182
NM_025114.4(CEP290):c.6120A>T (p.Thr2040=) rs766265410
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6135+11A>G
NM_025114.4(CEP290):c.6135+12T>A
NM_025114.4(CEP290):c.6135+13C>A
NM_025114.4(CEP290):c.6135+13C>G
NM_025114.4(CEP290):c.6135+15T>C
NM_025114.4(CEP290):c.6135+19T>C
NM_025114.4(CEP290):c.6135+9A>C
NM_025114.4(CEP290):c.6135+9A>G
NM_025114.4(CEP290):c.6136-13C>A
NM_025114.4(CEP290):c.6136-6C>G
NM_025114.4(CEP290):c.6136-8C>T
NM_025114.4(CEP290):c.6138T>A (p.Ile2046=)
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=) rs779553989
NM_025114.4(CEP290):c.615A>T (p.Arg205=)
NM_025114.4(CEP290):c.6162T>C (p.His2054=) rs867670449
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=) rs2034700190
NM_025114.4(CEP290):c.6192A>G (p.Glu2064=) rs1565798798
NM_025114.4(CEP290):c.6196T>C (p.Leu2066=) rs2136814010
NM_025114.4(CEP290):c.6204G>A (p.Leu2068=)
NM_025114.4(CEP290):c.6207A>T (p.Ser2069=) rs1327169453
NM_025114.4(CEP290):c.6216T>C (p.Asn2072=)
NM_025114.4(CEP290):c.621G>A (p.Gln207=)
NM_025114.4(CEP290):c.6225G>C (p.Leu2075=)
NM_025114.4(CEP290):c.6234G>A (p.Gln2078=)
NM_025114.4(CEP290):c.6258G>A (p.Leu2086=)
NM_025114.4(CEP290):c.6261A>C (p.Pro2087=)
NM_025114.4(CEP290):c.6261A>G (p.Pro2087=) rs2136812192
NM_025114.4(CEP290):c.6264A>G (p.Arg2088=) rs2136812129
NM_025114.4(CEP290):c.6270+12G>A
NM_025114.4(CEP290):c.6270+17T>G rs1473886719
NM_025114.4(CEP290):c.6270+19del
NM_025114.4(CEP290):c.6270+9A>G rs2136811401
NM_025114.4(CEP290):c.6271-11T>C
NM_025114.4(CEP290):c.6271-12_6271-10del
NM_025114.4(CEP290):c.6271-13T>G
NM_025114.4(CEP290):c.6271-14T>G
NM_025114.4(CEP290):c.6271-16G>A
NM_025114.4(CEP290):c.6271-9A>T
NM_025114.4(CEP290):c.6291G>A (p.Lys2097=) rs2136785499
NM_025114.4(CEP290):c.6294A>G (p.Glu2098=) rs1213494233
NM_025114.4(CEP290):c.6324A>G (p.Ala2108=)
NM_025114.4(CEP290):c.6327A>G (p.Glu2109=)
NM_025114.4(CEP290):c.6336G>A (p.Arg2112=) rs1475220538
NM_025114.4(CEP290):c.6348T>C (p.His2116=)
NM_025114.4(CEP290):c.6351T>C (p.Val2117=) rs2136784239
NM_025114.4(CEP290):c.6354A>G (p.Arg2118=) rs762397066
NM_025114.4(CEP290):c.6357+11A>C
NM_025114.4(CEP290):c.6357+16C>T
NM_025114.4(CEP290):c.6357+17C>T
NM_025114.4(CEP290):c.6357+20A>G
NM_025114.4(CEP290):c.6357+9_6357+14del
NM_025114.4(CEP290):c.6358-11T>C
NM_025114.4(CEP290):c.6358-13T>C rs1355948965
NM_025114.4(CEP290):c.6358-14A>G
NM_025114.4(CEP290):c.6358-16del
NM_025114.4(CEP290):c.6358-18_6358-15del
NM_025114.4(CEP290):c.6358-20T>C
NM_025114.4(CEP290):c.6358-6T>C
NM_025114.4(CEP290):c.6358-7T>C rs1323070560
NM_025114.4(CEP290):c.6363T>C (p.Gly2121=) rs2136752914
NM_025114.4(CEP290):c.6369T>C (p.Ser2123=) rs750473077
NM_025114.4(CEP290):c.6372A>G (p.Gly2124=)
NM_025114.4(CEP290):c.6384A>G (p.Pro2128=)
NM_025114.4(CEP290):c.6387A>G (p.Glu2129=)
NM_025114.4(CEP290):c.6388C>T (p.Leu2130=)
NM_025114.4(CEP290):c.6420A>G (p.Val2140=) rs2034432859
NM_025114.4(CEP290):c.642G>A (p.Glu214=) rs2138094419
NM_025114.4(CEP290):c.6432C>A (p.Val2144=)
NM_025114.4(CEP290):c.6438A>G (p.Arg2146=)
NM_025114.4(CEP290):c.6468A>G (p.Gly2156=)
NM_025114.4(CEP290):c.6472T>C (p.Leu2158=)
NM_025114.4(CEP290):c.6474G>A (p.Leu2158=) rs2034427417
NM_025114.4(CEP290):c.648C>A (p.Ile216=) rs748527265
NM_025114.4(CEP290):c.6517T>C (p.Leu2173=)
NM_025114.4(CEP290):c.6522+12T>G
NM_025114.4(CEP290):c.6522+13A>T
NM_025114.4(CEP290):c.6522+13_6522+14insC
NM_025114.4(CEP290):c.6522+14_6522+15insC
NM_025114.4(CEP290):c.6522+16G>A
NM_025114.4(CEP290):c.6522+18G>C
NM_025114.4(CEP290):c.6522+19A>T
NM_025114.4(CEP290):c.6522+6_6522+7insC
NM_025114.4(CEP290):c.6522+8_6522+9insA
NM_025114.4(CEP290):c.6523-11T>G
NM_025114.4(CEP290):c.6523-12T>C rs761172645
NM_025114.4(CEP290):c.6523-12T>G
NM_025114.4(CEP290):c.6523-13G>T
NM_025114.4(CEP290):c.6523-13_6523-10del rs779782832
NM_025114.4(CEP290):c.6523-14T>C
NM_025114.4(CEP290):c.6523-14T>G
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.6523-18T>C
NM_025114.4(CEP290):c.6523-18T>G rs954082831
NM_025114.4(CEP290):c.6523-22_6523-18del rs2034347330
NM_025114.4(CEP290):c.6523-8T>C
NM_025114.4(CEP290):c.6523-9T>G
NM_025114.4(CEP290):c.6561G>A (p.Gln2187=) rs2136727209
NM_025114.4(CEP290):c.6579A>G (p.Glu2193=)
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=) rs1592739990
NM_025114.4(CEP290):c.6585G>A (p.Lys2195=)
NM_025114.4(CEP290):c.6588C>T (p.Thr2196=)
NM_025114.4(CEP290):c.6600A>G (p.Glu2200=) rs2136725980
NM_025114.4(CEP290):c.6606T>A (p.Ile2202=)
NM_025114.4(CEP290):c.6606T>C (p.Ile2202=)
NM_025114.4(CEP290):c.6624G>A (p.Arg2208=)
NM_025114.4(CEP290):c.6645+7C>T rs762527255
NM_025114.4(CEP290):c.6646-10T>C rs2136707145
NM_025114.4(CEP290):c.6646-15A>G
NM_025114.4(CEP290):c.6646-16del
NM_025114.4(CEP290):c.6646-17T>C
NM_025114.4(CEP290):c.6646-4A>G
NM_025114.4(CEP290):c.6646-9T>C
NM_025114.4(CEP290):c.6672G>A (p.Arg2224=)
NM_025114.4(CEP290):c.669+15A>G
NM_025114.4(CEP290):c.669+16G>A rs1408808578
NM_025114.4(CEP290):c.669+20A>T
NM_025114.4(CEP290):c.669+6dup rs761225874
NM_025114.4(CEP290):c.669+8G>A rs768408897
NM_025114.4(CEP290):c.669+9G>A rs746701712
NM_025114.4(CEP290):c.669+9G>T rs746701712
NM_025114.4(CEP290):c.6693G>A (p.Glu2231=) rs2136706174
NM_025114.4(CEP290):c.670-13T>C
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.670-7T>G
NM_025114.4(CEP290):c.670-9C>T
NM_025114.4(CEP290):c.6714A>C (p.Thr2238=) rs1293521533
NM_025114.4(CEP290):c.6721C>T (p.Leu2241=)
NM_025114.4(CEP290):c.6742T>C (p.Leu2248=)
NM_025114.4(CEP290):c.6744G>A (p.Leu2248=) rs2136705270
NM_025114.4(CEP290):c.6753A>G (p.Ala2251=) rs2136704965
NM_025114.4(CEP290):c.6756A>G (p.Glu2252=) rs750070359
NM_025114.4(CEP290):c.6774T>G (p.Leu2258=) rs2034234195
NM_025114.4(CEP290):c.6777A>G (p.Glu2259=)
NM_025114.4(CEP290):c.6804C>G (p.Ser2268=) rs775553764
NM_025114.4(CEP290):c.6818+10G>C
NM_025114.4(CEP290):c.6818+20C>T
NM_025114.4(CEP290):c.6819-10A>C rs150241790
NM_025114.4(CEP290):c.6819-11T>C rs2136657156
NM_025114.4(CEP290):c.6819-12T>G
NM_025114.4(CEP290):c.6819-5T>A
NM_025114.4(CEP290):c.6819-6T>C rs2136656943
NM_025114.4(CEP290):c.6819-7C>T
NM_025114.4(CEP290):c.6831C>A (p.Thr2277=)
NM_025114.4(CEP290):c.6831C>T (p.Thr2277=)
NM_025114.4(CEP290):c.6837A>G (p.Leu2279=) rs2136656585
NM_025114.4(CEP290):c.6844T>C (p.Leu2282=)
NM_025114.4(CEP290):c.6846G>A (p.Leu2282=)
NM_025114.4(CEP290):c.6879T>C (p.Ile2293=) rs1592725976
NM_025114.4(CEP290):c.687T>C (p.Asn229=) rs2138087198
NM_025114.4(CEP290):c.6924A>G (p.Gln2308=) rs2033935023
NM_025114.4(CEP290):c.6942T>C (p.Asn2314=) rs2136654318
NM_025114.4(CEP290):c.6951T>A (p.Leu2317=)
NM_025114.4(CEP290):c.6954A>G (p.Glu2318=) rs2136653946
NM_025114.4(CEP290):c.6960+14T>G
NM_025114.4(CEP290):c.6960+9C>A
NM_025114.4(CEP290):c.6960+9_6960+13del
NM_025114.4(CEP290):c.6961-10G>A
NM_025114.4(CEP290):c.6961-12T>C
NM_025114.4(CEP290):c.6961-18T>C
NM_025114.4(CEP290):c.6961-5dup rs2033832669
NM_025114.4(CEP290):c.6961-6T>C rs768947002
NM_025114.4(CEP290):c.6969T>A (p.Ile2323=) rs2136637133
NM_025114.4(CEP290):c.6972T>C (p.Leu2324=)
NM_025114.4(CEP290):c.6978T>C (p.His2326=) rs775641877
NM_025114.4(CEP290):c.6981T>C (p.Val2327=)
NM_025114.4(CEP290):c.6987A>G (p.Glu2329=) rs2136636831
NM_025114.4(CEP290):c.6993T>A (p.Ala2331=) rs2136636592
NM_025114.4(CEP290):c.6999A>C (p.Thr2333=)
NM_025114.4(CEP290):c.6A>C (p.Pro2=)
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=) rs1592722143
NM_025114.4(CEP290):c.7034+13_7034+15del
NM_025114.4(CEP290):c.7034+19T>A
NM_025114.4(CEP290):c.7034+19T>C
NM_025114.4(CEP290):c.7034+8A>C rs1209334887
NM_025114.4(CEP290):c.7034+8A>G
NM_025114.4(CEP290):c.7035-11T>C
NM_025114.4(CEP290):c.7035-12A>G
NM_025114.4(CEP290):c.7035-14T>C
NM_025114.4(CEP290):c.7035-15A>G
NM_025114.4(CEP290):c.7035-18A>G
NM_025114.4(CEP290):c.7035-19C>T
NM_025114.4(CEP290):c.7035-7G>T
NM_025114.4(CEP290):c.7035-9G>A rs2136625815
NM_025114.4(CEP290):c.7036T>C (p.Leu2346=)
NM_025114.4(CEP290):c.7077C>A (p.Ile2359=)
NM_025114.4(CEP290):c.7113T>C (p.Ala2371=)
NM_025114.4(CEP290):c.7119C>T (p.Ser2373=) rs2136623871
NM_025114.4(CEP290):c.711A>G (p.Gln237=)
NM_025114.4(CEP290):c.7129+10T>C rs2136623387
NM_025114.4(CEP290):c.7129+13A>T
NM_025114.4(CEP290):c.7129+20A>G
NM_025114.4(CEP290):c.7129+20_7129+21del
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.7129+9T>G
NM_025114.4(CEP290):c.7130-18G>A
NM_025114.4(CEP290):c.7130-18G>C rs1258894576
NM_025114.4(CEP290):c.7130-6C>G
NM_025114.4(CEP290):c.7130-6C>T rs1267739576
NM_025114.4(CEP290):c.7130-8_7130-7del rs1555193620
NM_025114.4(CEP290):c.7134T>C (p.Ala2378=)
NM_025114.4(CEP290):c.7143A>G (p.Leu2381=)
NM_025114.4(CEP290):c.7161T>C (p.Asp2387=) rs1419407850
NM_025114.4(CEP290):c.7162C>T (p.Leu2388=)
NM_025114.4(CEP290):c.7173G>A (p.Gln2391=)
NM_025114.4(CEP290):c.7176C>A (p.Leu2392=)
NM_025114.4(CEP290):c.7179A>G (p.Lys2393=) rs2136564522
NM_025114.4(CEP290):c.7188T>C (p.Asp2396=) rs1373327829
NM_025114.4(CEP290):c.7191A>C (p.Leu2397=)
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+11_7209+16del rs1480154927
NM_025114.4(CEP290):c.7209+17T>C
NM_025114.4(CEP290):c.7209+7T>C rs745813087
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7209+7_7209+10del
NM_025114.4(CEP290):c.7209+9_7209+13del
NM_025114.4(CEP290):c.7210-14_7210-12dup
NM_025114.4(CEP290):c.7210-18_7210-13del rs753383814
NM_025114.4(CEP290):c.7212G>A (p.Glu2404=) rs1592705118
NM_025114.4(CEP290):c.7233A>G (p.Lys2411=)
NM_025114.4(CEP290):c.7239G>C (p.Leu2413=) rs2136547545
NM_025114.4(CEP290):c.7251T>C (p.Asp2417=) rs2136547270
NM_025114.4(CEP290):c.7257A>C (p.Ser2419=)
NM_025114.4(CEP290):c.7275A>G (p.Glu2425=) rs2136546932
NM_025114.4(CEP290):c.7284G>A (p.Lys2428=)
NM_025114.4(CEP290):c.729A>G (p.Leu243=) rs1349591192
NM_025114.4(CEP290):c.7305G>C (p.Val2435=)
NM_025114.4(CEP290):c.7308G>A (p.Lys2436=) rs2136545903
NM_025114.4(CEP290):c.7317T>A (p.Ile2439=)
NM_025114.4(CEP290):c.7329G>A (p.Glu2443=) rs1592704594
NM_025114.4(CEP290):c.732A>G (p.Glu244=) rs2138086280
NM_025114.4(CEP290):c.7335A>C (p.Val2445=)
NM_025114.4(CEP290):c.7347A>G (p.Ser2449=)
NM_025114.4(CEP290):c.7354T>C (p.Leu2452=) rs2136544711
NM_025114.4(CEP290):c.7366T>C (p.Leu2456=)
NM_025114.4(CEP290):c.7374C>T (p.Ser2458=)
NM_025114.4(CEP290):c.7380T>A (p.Val2460=)
NM_025114.4(CEP290):c.7386T>G (p.Ala2462=)
NM_025114.4(CEP290):c.7389T>C (p.Ser2463=)
NM_025114.4(CEP290):c.7416T>C (p.Ser2472=)
NM_025114.4(CEP290):c.741A>G (p.Val247=) rs2138085914
NM_025114.4(CEP290):c.7422T>C (p.Val2474=)
NM_025114.4(CEP290):c.7425T>C (p.Asn2475=) rs2136543130
NM_025114.4(CEP290):c.7437C>T (p.Tyr2479=) rs2136542833
NM_025114.4(CEP290):c.75A>G (p.Ala25=) rs2138304637
NM_025114.4(CEP290):c.768A>G (p.Glu256=)
NM_025114.4(CEP290):c.792G>A (p.Val264=)
NM_025114.4(CEP290):c.810A>G (p.Val270=)
NM_025114.4(CEP290):c.816T>C (p.Asp272=)
NM_025114.4(CEP290):c.836A>T (p.Asp279Val)
NM_025114.4(CEP290):c.837T>C (p.Asp279=)
NM_025114.4(CEP290):c.846A>G (p.Gln282=)
NM_025114.4(CEP290):c.852+10A>C rs1191374264
NM_025114.4(CEP290):c.852+10A>G rs1191374264
NM_025114.4(CEP290):c.852+11C>A
NM_025114.4(CEP290):c.852+16A>G rs2138082584
NM_025114.4(CEP290):c.852+17G>A
NM_025114.4(CEP290):c.852+7A>G
NM_025114.4(CEP290):c.853-10del rs201265955
NM_025114.4(CEP290):c.853-11T>G
NM_025114.4(CEP290):c.853-11_853-10insC
NM_025114.4(CEP290):c.853-12T>G
NM_025114.4(CEP290):c.853-12_853-11insA
NM_025114.4(CEP290):c.853-14del
NM_025114.4(CEP290):c.853-16T>C
NM_025114.4(CEP290):c.853-18A>C rs2138072197
NM_025114.4(CEP290):c.853-20G>C rs1565913252
NM_025114.4(CEP290):c.853-7C>A rs2138071676
NM_025114.4(CEP290):c.858G>A (p.Gln286=)
NM_025114.4(CEP290):c.864T>A (p.Leu288=)
NM_025114.4(CEP290):c.867A>C (p.Thr289=) rs2138071158
NM_025114.4(CEP290):c.888T>C (p.Asn296=)
NM_025114.4(CEP290):c.897T>C (p.Asp299=)
NM_025114.4(CEP290):c.918C>T (p.Val306=) rs1592668759
NM_025114.4(CEP290):c.93C>G (p.Ser31=) rs375955381
NM_025114.4(CEP290):c.942+13A>G
NM_025114.4(CEP290):c.942+14A>G
NM_025114.4(CEP290):c.943-14G>T
NM_025114.4(CEP290):c.943-16T>C
NM_025114.4(CEP290):c.943-4C>G
NM_025114.4(CEP290):c.943-9T>C
NM_025114.4(CEP290):c.948T>C (p.Ile316=) rs767967987
NM_025114.4(CEP290):c.966T>C (p.Asp322=) rs762450740
NM_025114.4(CEP290):c.993A>G (p.Leu331=)
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306

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