Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-94458738-C-A c.*55G>T splice_region ABCA4 28 81670 3.42843E-4 40835 0 0.004375
1-94458738-C-T c.*55G>A splice_region ABCA4 7 81670 8.57108E-5 40835 0 NA
1-94458739-G-A c.*54C>T splice_region ABCA4 1 81664 1.22453E-5 40832 0 NA
1-94461659-G-A c.6816+6C>T splice_region ABCA4 4 82798 4.83103E-5 41399 0 3.98584E-6
1-94461660-G-A c.6816+5C>T splice_region ABCA4 23 82834 2.77664E-4 41417 0 6.36862E-5
1-94461666-T-C p.Gln2272Arg missense+splice_region ABCA4 1 82886 1.20648E-5 41443 0 8.26583E-6
1-94461675-C-T p.Arg2269Gln missense ABCA4 1 82970 1.20525E-5 41485 0 4.12991E-5
1-94461676-G-A p.Arg2269* stop_gained ABCA4 1 82996 1.20488E-5 41498 0 1.65166E-5
1-94461679-T-G p.Ser2268Arg missense ABCA4 1 83032 1.20435E-5 41516 0 NA
1-94461693-C-G p.Arg2263Pro missense ABCA4 3 83098 3.6102E-5 41549 0 8.25069E-6
1-94461696-G-A p.Pro2262Leu missense ABCA4 2 83126 2.40599E-5 41563 0 NA
1-94461706-G-A p.Pro2259Ser missense ABCA4 2 83174 2.4046E-5 41587 0 3.98038E-6
1-94461712-C-T p.Asp2257Asn missense ABCA4 2 83164 2.40489E-5 41582 0 3.98E-6
1-94461713-A-G p.His2256His synonymous ABCA4 1 83180 1.20221E-5 41590 0 NA
1-94461714-T-C p.His2256Arg missense ABCA4 1 83180 1.20221E-5 41590 0 7.9602E-6
1-94461717-C-A p.Ser2255Ile missense ABCA4 9193 83018 0.110735 41509 1196 0.159578
1-94461731-T-C p.Lys2250Lys synonymous ABCA4 1 83196 1.20198E-5 41598 0 NA
1-94461733-T-C p.Lys2250Glu missense ABCA4 3 83192 3.60612E-5 41596 0 7.9614E-6
1-94461749-C-T p.Val2244Val splice_region+synonymous ABCA4 912 83138 0.0109697 41569 24 0.0240082
1-94461754-A-G c.6730-3T>C splice_region ABCA4 8229 82862 0.0993097 41431 820 0.136094
1-94461758-G-A c.6730-7C>T splice_region ABCA4 1 83082 1.20363E-5 41541 0 3.98686E-6
1-94463397-GTGCCCCAGGGCCAAC-G c.6729+5_6729+19delGTTGGCCCTGGGGCA splice_region ABCA4 2 82920 2.41196E-5 41460 0 1.16358E-4
1-94463425-G-C p.Leu2241Val missense ABCA4 14 83172 1.68326E-4 41586 0 6.25E-4
1-94463425-G-A p.Leu2241Leu synonymous ABCA4 1 83172 1.20233E-5 41586 0 8.2605E-6
1-94463428-T-C p.Thr2240Ala missense ABCA4 2 83176 2.40454E-5 41588 0 9.55962E-5
1-94463445-T-TGGTCC p.Tyr2234fs frameshift ABCA4 1 83254 1.20114E-5 41627 0 NA
1-94463446-A-AGTGAGCTGTGTGACAG p.Tyr2234fs frameshift ABCA4 1 83252 1.20117E-5 41626 0 NA
1-94463469-T-C p.Lys2226Arg missense ABCA4 1 83296 1.20054E-5 41648 0 8.24375E-6
1-94463477-G-A p.Leu2223Leu synonymous ABCA4 8 83276 9.60661E-5 41638 0 1.91144E-4
1-94463483-G-A p.Leu2221Leu synonymous ABCA4 1 83280 1.20077E-5 41640 0 NA
1-94463489-G-A p.Phe2219Phe synonymous ABCA4 1 83288 1.20065E-5 41644 0 3.18654E-5
1-94463499-G-A p.Ala2216Val missense ABCA4 4 83292 4.80238E-5 41646 0 3.18654E-5
1-94463503-G-GGGA p.Ser2214dup conservative_inframe_insertion ABCA4 1 83310 1.20034E-5 41655 0 7.9564E-6
1-94463519-C-T p.Gln2209Gln synonymous ABCA4 1 83332 1.20002E-5 41666 0 NA
1-94463523-A-T p.Phe2208Tyr missense ABCA4 1 83330 1.20005E-5 41665 0 8.24035E-6
1-94463534-G-A p.Asn2204Asn synonymous ABCA4 2 83330 2.4001E-5 41665 0 3.18512E-5
1-94463538-T-C p.Tyr2203Cys missense ABCA4 1 83328 1.20008E-5 41664 0 7.95399E-6
1-94463567-G-A p.Phe2193Phe synonymous ABCA4 4 83342 4.7995E-5 41671 0 1.0339E-4
1-94463569-A-G p.Phe2193Leu missense ABCA4 1 83346 1.19982E-5 41673 0 NA
1-94463590-C-T p.Glu2186Lys missense ABCA4 1 83326 1.20011E-5 41663 0 NA
1-94463617-C-T p.Asp2177Asn missense ABCA4 572 83260 0.00687005 41630 3 0.0126441
1-94463618-G-A p.Asp2176Asp synonymous ABCA4 2 83270 2.40183E-5 41635 0 1.64802E-5
1-94463624-C-T p.Pro2174Pro synonymous ABCA4 7 83246 8.40881E-5 41623 0 9.55475E-5
1-94463625-G-A p.Pro2174Leu missense ABCA4 1 83246 1.20126E-5 41623 0 8.24049E-6
1-94463647-C-T p.Val2167Ile missense ABCA4 1 82954 1.20549E-5 41477 0 8.24783E-6
1-94463648-G-A p.Ile2166Ile synonymous ABCA4 119 82908 0.00143533 41454 1 0.00151057
1-94463648-G-C p.Ile2166Met missense ABCA4 6 82916 7.23624E-5 41458 0 1.67022E-4
1-94463651-A-G p.Tyr2165Tyr synonymous ABCA4 4 82862 4.8273E-5 41431 0 8.24974E-5
1-94463652-T-C p.Tyr2165Cys missense ABCA4 3 82824 3.62214E-5 41412 0 NA
1-94463668-T-TAGGGGATGCACACAGTGCAGG c.6480-3_6480-2insCCTGCACTGTGTGCATCCCCT splice_region ABCA4 1 82400 1.21359E-5 41200 0 NA
1-94466400-G-C p.Leu2157Leu synonymous ABCA4 1 83214 1.20172E-5 41607 0 NA
1-94466407-T-C p.Gln2155Arg missense ABCA4 1 83238 1.20137E-5 41619 0 NA
1-94466410-A-C p.Ile2154Ser missense ABCA4 1 83244 1.20129E-5 41622 0 NA
1-94466419-A-G p.Met2151Thr missense ABCA4 1 83270 1.20091E-5 41635 0 8.23737E-6
1-94466422-C-T p.Cys2150Tyr missense ABCA4 2 83262 2.40206E-5 41631 0 6.37024E-5
1-94466423-A-C p.Cys2150Gly missense ABCA4 1 83260 1.20106E-5 41630 0 NA
1-94466425-C-T p.Arg2149Gln missense ABCA4 15 83260 1.80159E-4 41630 0 6.37146E-5
1-94466426-G-A p.Arg2149* stop_gained ABCA4 1 83260 1.20106E-5 41630 0 1.98823E-5
1-94466432-C-T p.Ala2147Thr missense ABCA4 7 83242 8.40922E-5 41621 0 3.18552E-5
1-94466455-C-T p.Arg2139Gln missense ABCA4 1 83256 1.20111E-5 41628 0 2.05921E-4
1-94466469-C-T p.Glu2134Glu synonymous ABCA4 5 83252 6.00586E-5 41626 1 NA
1-94466475-T-C p.Glu2132Glu synonymous ABCA4 1 83250 1.2012E-5 41625 0 8.23696E-6
1-94466559-T-C p.Ser2129Gly missense+splice_region ABCA4 1 83140 1.20279E-5 41570 0 NA
1-94466587-T-C p.Glu2119Glu synonymous ABCA4 1 83052 1.20406E-5 41526 0 1.91144E-4
1-94466598-T-A p.Ile2116Phe missense ABCA4 1 83008 1.2047E-5 41504 0 1.1932E-5
1-94466599-G-T p.Ser2115Arg missense ABCA4 1 82998 1.20485E-5 41499 0 NA
1-94466602-C-T p.Val2114Val synonymous ABCA4 3 82988 3.61498E-5 41494 0 3.18573E-5
1-94466604-C-T p.Val2114Met missense ABCA4 26 82950 3.13442E-4 41475 0 1.71044E-4
1-94466610-C-G p.Val2112Leu missense ABCA4 5 82884 6.03253E-5 41442 0 8.24144E-6
1-94466610-C-T p.Val2112Ile missense ABCA4 4 82884 4.82602E-5 41442 0 2.38679E-5
1-94466611-G-A p.Asn2111Asn synonymous ABCA4 7 82860 8.44798E-5 41430 0 2.54793E-4
1-94466617-C-T p.Leu2109Leu synonymous ABCA4 1 82794 1.20782E-5 41397 0 3.97839E-6
1-94466624-C-T p.Arg2107His missense ABCA4 198 82598 0.00239715 41299 2 0.00640617
1-94466625-G-A p.Arg2107Cys missense ABCA4 5 82586 6.05429E-5 41293 0 3.18756E-5
1-94466628-G-A p.Arg2106Cys missense ABCA4 29 82448 3.51737E-4 41224 0 0.00100705
1-94466634-G-C p.Gln2104Glu missense ABCA4 1 82256 1.21572E-5 41128 0 NA
1-94466643-T-A p.Met2101Leu missense ABCA4 1 81854 1.22169E-5 40927 0 NA
1-94466658-C-T p.Glu2096Lys missense ABCA4 1 80580 1.241E-5 40290 0 8.27828E-6
1-94466659-A-G p.Asp2095Asp splice_region+synonymous ABCA4 14455 78164 0.184932 39082 1960 0.260081
1-94466660-T-C p.Asp2095Gly missense+splice_region ABCA4 1 80390 1.24394E-5 40195 0 3.99269E-6
1-94466665-G-T c.6283-4C>A splice_region ABCA4 1 79774 1.25354E-5 39887 0 8.32044E-6
1-94466668-G-T c.6283-7C>A splice_region ABCA4 2 79366 2.51997E-5 39683 0 1.59347E-4
1-94466669-G-A c.6283-8C>T splice_region ABCA4 8 79142 1.01084E-4 39571 0 2.55053E-4
1-94467406-G-A c.6282+8C>T splice_region ABCA4 4 82938 4.82288E-5 41469 1 3.3168E-5
1-94467407-C-T c.6282+7G>A splice_region ABCA4 8416 82726 0.101733 41363 630 0.124211
1-94467429-T-C p.Pro2089Pro synonymous ABCA4 1 83058 1.20398E-5 41529 0 3.18674E-5
1-94467441-G-A p.Leu2085Leu synonymous ABCA4 69 83194 8.29387E-4 41597 0 0.00350341
1-94467447-G-A p.Ile2083Ile synonymous ABCA4 8518 83054 0.10256 41527 667 0.125378
1-94467466-C-T p.Arg2077Gln missense ABCA4 1 83256 1.20111E-5 41628 0 6.25E-4
1-94467475-C-A p.Gly2074Val missense ABCA4 3 83250 3.6036E-5 41625 0 4.11984E-5
1-94467478-C-G p.Gly2073Ala missense ABCA4 1 83274 1.20085E-5 41637 0 6.25E-4
1-94467480-A-G p.Ser2072Ser synonymous ABCA4 2 83272 2.40177E-5 41636 0 5.96545E-5
1-94467480-A-C p.Ser2072Arg missense ABCA4 1 83272 1.20088E-5 41636 0 NA
1-94467486-C-T p.Thr2070Thr synonymous ABCA4 1 83284 1.20071E-5 41642 0 3.97687E-6
1-94467486-C-A p.Thr2070Thr synonymous ABCA4 1 83284 1.20071E-5 41642 0 3.97687E-6
1-94467488-T-C p.Thr2070Ala missense ABCA4 1 83276 1.20083E-5 41638 0 3.97687E-6
1-94467504-G-A p.Ala2064Ala synonymous ABCA4 1 83288 1.20065E-5 41644 0 3.97693E-6
1-94467507-G-A p.Tyr2063Tyr synonymous ABCA4 1 83292 1.2006E-5 41646 0 3.29533E-5
1-94467520-C-G p.Gly2059Ala missense ABCA4 1 83302 1.20045E-5 41651 0 NA
1-94467529-T-G p.Lys2056Thr missense ABCA4 1 83316 1.20025E-5 41658 0 NA
1-94467529-T-C p.Lys2056Arg missense ABCA4 1 83316 1.20025E-5 41658 0 1.19299E-5
1-94467537-C-T p.Trp2053* stop_gained ABCA4 1 83312 1.20031E-5 41656 0 NA
1-94467540-G-T p.Asn2052Lys missense ABCA4 1 83310 1.20034E-5 41655 0 3.18674E-5
1-94467542-T-C p.Asn2052Asp missense ABCA4 3 83304 3.60127E-5 41652 0 3.97665E-6
1-94467548-C-G p.Val2050Leu missense+splice_region ABCA4 404 83314 0.00484913 41657 4 0.00296679
1-94467550-T-C c.6148-2A>G splice_acceptor ABCA4 1 83308 1.20036E-5 41654 0 3.97681E-6
1-94467551-AG-A c.6148-4delC splice_region ABCA4 1 83310 1.20034E-5 41655 0 8.2409E-6
1-94470931-G-A n.327C>T splice_region ABCA4 1 81580 1.22579E-5 40790 0 NA
1-94470988-AT-A c.6147+8delA splice_region ABCA4 1 83070 1.2038E-5 41535 0 3.18796E-5
1-94470989-T-C c.6147+8A>G splice_region ABCA4 1 83074 1.20375E-5 41537 0 4.94324E-5
1-94470994-C-T c.6147+3G>A splice_region ABCA4 2 83084 2.4072E-5 41542 0 8.23832E-6
1-94471003-G-A p.Ile2047Ile synonymous ABCA4 2 83102 2.40668E-5 41551 0 1.64761E-5
1-94471020-C-T p.Val2042Ile missense ABCA4 16 83128 1.92474E-4 41564 0 2.22845E-4
1-94471025-C-T p.Arg2040Gln missense ABCA4 11 83130 1.32323E-4 41565 0 3.37738E-4
1-94471032-G-A p.Arg2038Trp missense ABCA4 3 83132 3.60872E-5 41566 1 2.47117E-5
1-94471046-A-C p.Leu2033Arg missense ABCA4 1 83172 1.20233E-5 41586 0 NA
1-94471048-A-C p.His2032Gln missense ABCA4 2 83174 2.4046E-5 41587 0 NA
1-94471055-C-T p.Arg2030Gln missense ABCA4 36 83160 4.329E-4 41580 0 6.25E-4
1-94471065-G-A p.Leu2027Phe missense ABCA4 21 83176 2.52477E-4 41588 0 2.14161E-4
1-94471075-A-G p.Ile2023Ile synonymous ABCA4 71558 83026 0.861875 41513 31660 0.89875
1-94471076-A-G p.Ile2023Thr missense ABCA4 9 83192 1.08183E-4 41596 0 2.54777E-4
1-94471090-A-C p.Pro2018Pro synonymous ABCA4 1 83176 1.20227E-5 41588 0 8.23805E-6
1-94471106-T-C p.Asn2013Ser missense ABCA4 1 83158 1.20253E-5 41579 0 1.64775E-5
1-94471121-G-C p.Ser2008Cys missense ABCA4 1 83130 1.20294E-5 41565 0 8.24103E-6
1-94471125-T-C p.Ile2007Val missense ABCA4 1 83098 1.2034E-5 41549 0 3.97877E-6
1-94471129-G-C p.Thr2005Thr synonymous ABCA4 1 83084 1.2036E-5 41542 0 NA
1-94473201-T-A p.Val1998Val synonymous ABCA4 2 81638 2.44984E-5 40819 0 NA
1-94473203-C-T p.Val1998Ile missense ABCA4 20 81702 2.44792E-4 40851 0 4.14171E-4
1-94473204-G-A p.Thr1997Thr synonymous ABCA4 2 81742 2.44672E-5 40871 0 3.31851E-5
1-94473211-T-A p.Asp1995Val missense ABCA4 9 81864 1.09938E-4 40932 0 2.231E-4
1-94473228-G-A p.Thr1989Thr synonymous ABCA4 1 82224 1.21619E-5 41112 0 NA
1-94473229-G-A p.Thr1989Ile missense ABCA4 6 82214 7.29803E-5 41107 0 3.18674E-5
1-94473230-TGTCC-T p.Asp1988fs frameshift ABCA4 1 82234 1.21604E-5 41117 0 NA
1-94473236-C-A p.Gly1987Trp missense ABCA4 1 82326 1.21468E-5 41163 0 NA
1-94473238-G-T p.Thr1986Asn missense ABCA4 1 82364 1.21412E-5 41182 0 3.18492E-5
1-94473249-G-T p.Phe1982Leu missense ABCA4 1 82424 1.21324E-5 41212 0 NA
1-94473253-G-C p.Thr1981Arg missense ABCA4 2 82448 2.42577E-5 41224 0 NA
1-94473253-G-A p.Thr1981Ile missense ABCA4 1 82448 1.21289E-5 41224 0 8.30151E-6
1-94473258-T-G p.Thr1979Thr synonymous ABCA4 1 82458 1.21274E-5 41229 0 3.98708E-6
1-94473267-G-A p.Ala1976Ala synonymous ABCA4 2 82420 2.4266E-5 41210 0 3.18695E-5
1-94473277-AC-A p.Val1973fs frameshift ABCA4 1 82420 1.2133E-5 41210 0 4.98455E-5
1-94473282-C-CAGG p.Leu1971dup disruptive_inframe_insertion ABCA4 1 82420 1.2133E-5 41210 0 NA
1-94473287-G-A p.Leu1970Phe missense ABCA4 301 82358 0.00365478 41179 0 0.00302115
1-94473288-G-A p.Gly1969Gly synonymous ABCA4 2 82350 2.42866E-5 41175 0 NA
1-94473801-C-T p.Arg1963His missense ABCA4 5 83280 6.00384E-5 41640 0 6.36983E-5
1-94473802-G-A p.Arg1963Cys missense ABCA4 1 83286 1.20068E-5 41643 0 1.6494E-5
1-94473807-C-T p.Gly1961Glu missense ABCA4 527 83278 0.0063282 41639 4 0.025625
1-94473808-C-T p.Gly1961Arg missense ABCA4 4 83298 4.80204E-5 41649 0 0.0025
1-94473809-G-A p.Val1960Val synonymous ABCA4 1 83300 1.20048E-5 41650 0 1.64853E-5
1-94473825-A-G p.Val1955Ala missense ABCA4 1 83310 1.20034E-5 41655 0 NA
1-94473830-T-C p.Pro1953Pro synonymous ABCA4 1 83310 1.20034E-5 41655 0 NA
1-94473837-G-A p.Ser1951Phe missense ABCA4 2 83308 2.40073E-5 41654 0 NA
1-94473845-T-C p.Pro1948Pro synonymous ABCA4 13455 83084 0.161945 41542 1491 0.197855
1-94473845-TG-CA p.Pro1948Leu missense ABCA4 2098 83282 0.0251915 41641 36 NA
1-94473846-G-A p.Pro1948Leu missense ABCA4 575 83322 0.00690094 41661 12 0.0315327
1-94473852-A-G p.Ile1946Thr missense+splice_region ABCA4 2 83328 2.40015E-5 41664 0 3.18492E-5
1-94473854-CT-C c.5836-2delA splice_acceptor ABCA4 1 83320 1.20019E-5 41660 0 3.97671E-6
1-94474304-T-A c.5835+3A>T splice_region ABCA4 2 83340 2.39981E-5 41670 0 NA
1-94474310-G-A p.Thr1944Thr synonymous ABCA4 2 83338 2.39987E-5 41669 1 NA
1-94474318-C-G p.Glu1942Gln missense ABCA4 1 83336 1.19996E-5 41668 0 3.18099E-5
1-94474320-T-G p.His1941Pro missense ABCA4 1 83338 1.19993E-5 41669 0 3.97627E-6
1-94474322-T-C p.Leu1940Leu synonymous ABCA4 1 83336 1.19996E-5 41668 0 3.9763E-6
1-94474323-A-G p.Leu1940Pro missense ABCA4 1 83336 1.19996E-5 41668 0 3.18593E-5
1-94474325-C-G p.Arg1939Ser missense ABCA4 1 83336 1.19996E-5 41668 0 NA
1-94474328-T-C p.Leu1938Leu synonymous ABCA4 16355 83138 0.196721 41569 1677 0.204489
1-94474344-T-C p.Asn1933Ser missense ABCA4 1 83330 1.20005E-5 41665 0 NA
1-94474351-C-T p.Gly1931Ser missense ABCA4 5 83322 6.00082E-5 41661 0 3.18119E-5
1-94474369-T-C p.Arg1925Gly missense ABCA4 3 83332 3.60006E-5 41666 0 8.23642E-6
1-94474381-C-T p.Val1921Met missense ABCA4 1 83320 1.20019E-5 41660 0 6.37959E-5
1-94474394-A-G p.Asp1916Asp synonymous ABCA4 1 83318 1.20022E-5 41659 0 NA
1-94474402-T-C p.Ile1914Val missense ABCA4 1 83300 1.20048E-5 41650 0 NA
1-94474407-T-C p.Glu1912Gly missense ABCA4 4 83292 4.80238E-5 41646 0 7.95893E-6
1-94474408-C-T p.Glu1912Lys missense ABCA4 7 83294 8.40397E-5 41647 0 6.38733E-5
1-94474420-C-T p.Glu1908Lys missense ABCA4 5 83288 6.00327E-5 41644 0 5.03525E-4
1-94474421-G-A p.Ala1907Ala synonymous ABCA4 3 83286 3.60205E-5 41643 0 7.97137E-6
1-94474422-GC-AA p.Ala1907Phe missense ABCA4 3 83280 3.60231E-5 41640 0 NA
1-94474432-A-G c.5715-5T>C splice_region ABCA4 3 83256 3.60334E-5 41628 0 6.25E-4
1-94476348-G-A c.5714+8C>T splice_region ABCA4 1 83208 1.20181E-5 41604 0 3.18674E-5
1-94476351-C-T c.5714+5G>A splice_region ABCA4 43 83212 5.16752E-4 41606 0 3.47763E-4
1-94476352-G-A c.5714+4C>T splice_region ABCA4 8 83216 9.61354E-5 41608 0 4.96623E-5
1-94476358-T-C p.Gln1904Gln splice_region+synonymous ABCA4 7 83238 8.40962E-5 41619 0 9.09783E-5
1-94476377-C-T p.Arg1898His missense ABCA4 138 83268 0.0016573 41634 0 0.00178427
1-94476378-G-A p.Arg1898Cys missense ABCA4 3 83272 3.60265E-5 41636 0 5.1205E-4
1-94476379-C-A p.Gln1897His missense ABCA4 1 83268 1.20094E-5 41634 0 NA
1-94476388-C-G p.Leu1894Leu synonymous ABCA4 19569 83066 0.235584 41533 2414 0.23749
1-94476399-G-A p.Leu1891Phe missense ABCA4 1 83292 1.2006E-5 41646 0 NA
1-94476428-G-A p.Ala1881Val missense ABCA4 5 83296 6.00269E-5 41648 0 0.00252016
1-94476430-A-T p.Phe1880Leu missense ABCA4 13 83296 1.5607E-4 41648 0 0.001875
1-94476436-G-T p.Asn1878Lys missense ABCA4 1 83276 1.20083E-5 41638 0 NA
1-94476451-G-A p.Asp1873Asp synonymous ABCA4 1 83244 1.20129E-5 41622 0 8.23981E-6
1-94476454-C-T p.Trp1872* stop_gained ABCA4 1 83228 1.20152E-5 41614 0 8.24008E-6
1-94476458-T-G p.His1871Pro missense ABCA4 1 83212 1.20175E-5 41606 0 NA
1-94476459-G-A p.His1871Tyr missense ABCA4 3 83198 3.60586E-5 41599 0 NA
1-94476463-C-T p.Pro1869Pro synonymous ABCA4 3 83166 3.60724E-5 41583 0 6.25E-4
1-94476464-G-A p.Pro1869Leu missense ABCA4 3 83144 3.6082E-5 41572 0 2.23172E-4
1-94476467-T-A p.Asn1868Ile missense ABCA4 3931 83046 0.0473352 41523 120 0.0445562
1-94476472-A-C p.Ser1866Ser synonymous ABCA4 3 83094 3.61037E-5 41547 0 3.97839E-6
1-94476484-A-T p.Gly1862Gly splice_region+synonymous ABCA4 18 82960 2.16972E-4 41480 0 3.18857E-4
1-94476488-G-A c.5585-3C>T splice_region ABCA4 1 82904 1.20621E-5 41452 0 3.97981E-6
1-94476491-C-T c.5585-6G>A splice_region ABCA4 1 82834 1.20723E-5 41417 0 3.18796E-5
1-94476823-C-T p.Arg1860Gln missense ABCA4 5 83162 6.01236E-5 41581 0 0.00100705
1-94476823-C-CG p.Arg1860fs frameshift ABCA4 1 83162 1.20247E-5 41581 0 NA
1-94476831-G-A p.Val1857Val synonymous ABCA4 1 83188 1.2021E-5 41594 0 NA
1-94476842-C-A p.Val1854Leu missense ABCA4 4 83190 4.80827E-5 41595 0 3.30262E-5
1-94476854-G-A c.-96C>T 5_prime_UTR_premature_start_codon_gain ABCA4 1 83198 1.20195E-5 41599 0 5.03525E-4
1-94476873-C-T p.Arg1843Arg synonymous ABCA4 2 83202 2.40379E-5 41601 0 3.97795E-6
1-94476875-G-A p.Arg1843Trp missense ABCA4 2 83206 2.40367E-5 41603 0 1.59115E-5
1-94476879-C-G p.Leu1841Leu synonymous ABCA4 1 83210 1.20178E-5 41605 0 3.97772E-6
1-94476890-G-C p.His1838Asp missense ABCA4 1 83186 1.20213E-5 41593 0 3.97801E-6
1-94476895-A-C p.Phe1836Cys missense ABCA4 2 83170 2.40471E-5 41585 0 2.47484E-5
1-94476901-A-G p.Ile1834Thr missense ABCA4 3 83170 3.60707E-5 41585 0 8.24987E-5
1-94476905-G-A p.Leu1833Phe missense ABCA4 1 83142 1.20276E-5 41571 0 NA
1-94476920-C-T p.Val1828Met missense ABCA4 9 82992 1.08444E-4 41496 0 1.07303E-4
1-94476921-G-A c.-163C>T 5_prime_UTR_premature_start_codon_gain ABCA4 3 82958 3.61629E-5 41479 0 6.60327E-5
1-94476924-G-A c.-166C>T 5_prime_UTR_premature_start_codon_gain ABCA4 7 82912 8.44269E-5 41456 0 3.18552E-5
1-94476933-G-C c.-175C>G 5_prime_UTR_premature_start_codon_gain ABCA4 1 82744 1.20855E-5 41372 0 1.27437E-4
1-94476939-C-T p.Thr1821Thr splice_region+synonymous ABCA4 2 82536 2.42319E-5 41268 0 1.99138E-5
1-94476940-G-A p.Thr1821Met missense+splice_region ABCA4 6 82498 7.2729E-5 41249 0 5.78082E-5
1-94477131-A-ACCGGTAACCCTCCCAGCTTTGGACCCAGGGCCCATGCTCCATGGGCCTC c.-184+8_-184+9insGAGGCCCATGGAGCATGGGCCCTGGGTCCAAAGCTGGGAGGGTTACCGG splice_region ABCA4 1 39534 2.52947E-5 19767 0 NA
1-94477170-T-C c.-214A>G 5_prime_UTR_premature_start_codon_gain ABCA4 2 26824 7.45601E-5 13412 0 NA
1-94480096-C-T c.5460+3G>A splice_region ABCA4 2 83310 2.40067E-5 41655 0 7.95279E-5
1-94480100-C-T p.Arg1820Gln missense+splice_region ABCA4 1 83310 1.20034E-5 41655 0 3.18492E-5
1-94480101-G-A p.Arg1820Trp missense+splice_region ABCA4 1 83310 1.20034E-5 41655 0 1.19302E-5
1-94480138-A-G p.Ser1807Ser synonymous ABCA4 1 83314 1.20028E-5 41657 0 3.9764E-6
1-94480139-C-T p.Ser1807Asn missense ABCA4 4 83322 4.80065E-5 41661 0 1.98821E-5
1-94480146-T-C p.Asn1805Asp missense ABCA4 2 83306 2.40079E-5 41653 0 3.18471E-5
1-94480150-G-A p.Gly1803Gly synonymous ABCA4 1 83308 1.20036E-5 41654 0 2.47097E-5
1-94480152-C-T p.Gly1803Ser missense ABCA4 3 83304 3.60127E-5 41652 0 3.97646E-6
1-94480153-G-A p.Ile1802Ile synonymous ABCA4 9 83302 1.08041E-4 41651 0 6.36983E-5
1-94480168-A-G p.Cys1797Cys synonymous ABCA4 17 83294 2.04096E-4 41647 0 5.09424E-4
1-94480176-A-C p.Leu1795Val missense ABCA4 1 83292 1.2006E-5 41646 0 7.95361E-6
1-94480178-G-T p.Ala1794Asp missense ABCA4 2 83288 2.40131E-5 41644 0 2.47101E-5
1-94480179-C-G p.Ala1794Pro missense ABCA4 1 83284 1.20071E-5 41642 0 NA
1-94480180-C-T p.Val1793Val synonymous ABCA4 1 83290 1.20062E-5 41645 0 NA
1-94480208-A-T p.Leu1784Gln missense ABCA4 1 83284 1.20071E-5 41642 0 NA
1-94480221-G-C p.Pro1780Ala missense ABCA4 10 83288 1.20065E-4 41644 0 2.23001E-4
1-94480221-G-A p.Pro1780Ser missense ABCA4 1 83290 1.20062E-5 41645 0 NA
1-94480222-G-C p.Tyr1779* stop_gained ABCA4 1 83286 1.20068E-5 41643 0 NA
1-94480230-T-A p.Met1777Leu missense ABCA4 3 83288 3.60196E-5 41644 0 7.4129E-5
1-94480240-C-T p.Ala1773Ala synonymous ABCA4 5 83280 6.00384E-5 41640 0 6.58935E-5
1-94481287-C-T c.5312+8G>A splice_region ABCA4 28 83024 3.37252E-4 41512 0 1.98117E-4
1-94481297-A-G p.Tyr1770Tyr splice_region+synonymous ABCA4 2 83182 2.40437E-5 41591 0 NA
1-94481300-C-G p.Leu1769Leu synonymous ABCA4 38 83228 4.56577E-4 41614 0 7.01665E-4
1-94481317-CAAGGGCAGG-C p.Pro1761_Leu1763del conservative_inframe_deletion ABCA4 1 83276 1.20083E-5 41638 0 8.61282E-6
1-94481322-G-T p.Ala1762Asp missense ABCA4 1 83296 1.20054E-5 41648 0 NA
1-94481329-G-T p.Leu1760Ile missense ABCA4 3 83308 3.60109E-5 41654 0 1.19396E-5
1-94481330-G-A p.Asn1759Asn synonymous ABCA4 2 83304 2.40085E-5 41652 0 NA
1-94481334-T-C p.Glu1758Gly missense ABCA4 1 83308 1.20036E-5 41654 0 8.52036E-6
1-94481338-G-C p.Pro1757Ala missense ABCA4 1 83304 1.20042E-5 41652 0 3.97975E-6
1-94481342-A-C p.Thr1755Thr synonymous ABCA4 1 83306 1.20039E-5 41653 0 NA
1-94481354-C-T p.Lys1751Lys synonymous ABCA4 2 83304 2.40085E-5 41652 0 3.98007E-6
1-94481366-G-A p.Ile1747Ile synonymous ABCA4 12 83306 1.44047E-4 41653 0 0.001875
1-94481372-G-C p.Ile1745Met missense ABCA4 2 83290 2.40125E-5 41645 0 1.19455E-5
1-94481373-A-T p.Ile1745Asn missense ABCA4 1 83290 1.20062E-5 41645 0 3.98181E-6
1-94481398-C-T p.Val1737Met missense ABCA4 2 83228 2.40304E-5 41614 0 3.18512E-5
1-94481399-G-A p.Ser1736Ser synonymous ABCA4 5 83188 6.01048E-5 41594 0 9.45662E-6
1-94481413-C-T c.5197-3G>A splice_region ABCA4 2 83042 2.40842E-5 41521 0 4.25224E-5
1-94481414-G-A c.5197-4C>T splice_region ABCA4 5 83026 6.02221E-5 41513 0 2.16188E-5
1-94484123-T-C c.6+7A>G splice_region ABCA4 560 8028 0.0697559 4014 21 0.125625
1-94484219-T-G c.-84A>C 5_prime_UTR_premature_start_codon_gain ABCA4 1 8008 1.24875E-4 4004 0 NA
1-94485131-CACTT-C c.5196+3_5196+6delAAGT splice_region ABCA4 2 82472 2.42507E-5 41236 0 4.40467E-6
1-94485137-C-T c.5196+1G>A splice_donor ABCA4 1 82546 1.21145E-5 41273 0 6.01709E-5
1-94485138-G-A p.Ile1732Ile splice_region+synonymous ABCA4 1 82556 1.2113E-5 41278 0 NA
1-94485154-T-C p.Asn1727Ser missense ABCA4 2 82678 2.41902E-5 41339 0 7.69373E-5
1-94485163-C-G p.Trp1724Ser missense ABCA4 2 82760 2.41663E-5 41380 0 NA
1-94485171-G-A p.Thr1721Thr synonymous ABCA4 1 82782 1.20799E-5 41391 0 1.30049E-5
1-94485172-G-A p.Thr1721Ile missense ABCA4 1 82784 1.20796E-5 41392 0 NA
1-94485197-G-T p.Gln1713Lys missense ABCA4 1 82954 1.20549E-5 41477 0 5.04032E-4
1-94485213-G-T p.Asn1707Lys missense ABCA4 1 83016 1.20459E-5 41508 0 6.25E-4
1-94485218-C-A p.Val1706Leu missense ABCA4 3 83010 3.61402E-5 41505 0 0.00100705
1-94485218-C-T p.Val1706Met missense ABCA4 1 83010 1.20467E-5 41505 0 4.00612E-6
1-94485220-C-T p.Arg1705Gln missense ABCA4 2 83026 2.40888E-5 41513 0 1.08153E-4
1-94485235-T-A p.Tyr1700Phe missense ABCA4 1 83096 1.20343E-5 41548 0 NA
1-94485247-C-T p.Ser1696Asn missense ABCA4 7 83070 8.42663E-5 41535 0 3.99265E-5
1-94485257-C-T p.Val1693Ile missense ABCA4 16 83048 1.9266E-4 41524 0 6.36983E-4
1-94485258-G-A p.Phe1692Phe synonymous ABCA4 12 83054 1.44484E-4 41527 0 1.10181E-4
1-94485269-A-G p.Ser1689Pro missense ABCA4 1 83038 1.20427E-5 41519 0 9.25497E-6
1-94485274-AT-A p.Ile1687fs frameshift ABCA4 4 83014 4.81846E-5 41507 1 NA
1-94485275-T-A p.Ile1687Phe missense ABCA4 6 82974 7.23118E-5 41487 0 4.00125E-5
1-94485278-C-T p.Val1686Met missense ABCA4 88 82974 0.00106057 41487 1 7.32764E-4
1-94485283-A-T p.Ile1684Asn missense ABCA4 1 82934 1.20578E-5 41467 0 1.60274E-5
1-94485301-A-G p.Val1678Ala missense ABCA4 5 82832 6.03631E-5 41416 0 4.02839E-6
1-94485302-C-T p.Val1678Met missense ABCA4 3 82850 3.621E-5 41425 0 NA
1-94485310-G-C p.Thr1675Ser missense ABCA4 4 82730 4.83501E-5 41365 0 1.035E-5
1-94485310-G-A p.Thr1675Ile missense ABCA4 1 82730 1.20875E-5 41365 0 1.035E-5
1-94486788-T-C c.5018+8A>G splice_region ABCA4 157 82938 0.00189298 41469 1 0.00321656
1-94486789-G-A c.5018+7C>T splice_region ABCA4 1 83006 1.20473E-5 41503 0 3.97697E-6
1-94486794-A-G c.5018+2T>C splice_donor ABCA4 2 83038 2.40854E-5 41519 0 NA
1-94486814-T-C p.Gln1667Arg missense ABCA4 1 83226 1.20155E-5 41613 0 9.55536E-5
1-94486816-C-A p.Glu1666Asp missense ABCA4 1 83250 1.2012E-5 41625 0 1.64731E-5
1-94486823-G-A p.Thr1664Ile missense ABCA4 1 83270 1.20091E-5 41635 0 NA
1-94486828-G-A p.Asn1662Asn synonymous ABCA4 1 83266 1.20097E-5 41633 0 NA
1-94486836-G-A p.Pro1660Ser missense ABCA4 3 83278 3.60239E-5 41639 0 7.95374E-6
1-94486839-G-C p.Gln1659Glu missense ABCA4 1 83274 1.20085E-5 41637 0 8.23683E-6
1-94486848-C-T p.Val1656Ile missense ABCA4 2 83290 2.40125E-5 41645 0 1.64734E-5
1-94486849-G-A p.Thr1655Thr synonymous ABCA4 1 83276 1.20083E-5 41638 0 4.11834E-5
1-94486861-C-T p.Glu1651Glu synonymous ABCA4 3 83270 3.60274E-5 41635 0 6.37146E-5
1-94486863-C-T p.Glu1651Lys missense ABCA4 2 83272 2.40177E-5 41636 0 3.18512E-5
1-94486866-C-T p.Glu1650Lys missense ABCA4 5 83266 6.00485E-5 41633 0 1.98851E-5
1-94486866-CG-C p.Glu1650fs frameshift ABCA4 1 83266 1.20097E-5 41633 0 NA
1-94486867-G-A p.Pro1649Pro synonymous ABCA4 5 83264 6.005E-5 41632 0 3.29473E-5
1-94486889-C-A p.Ser1642Ile missense ABCA4 163 83258 0.00195777 41629 1 0.00398013
1-94486893-C-T p.Ala1641Thr missense ABCA4 1 83240 1.20135E-5 41620 0 NA
1-94486895-C-T p.Arg1640Gln missense ABCA4 3 83236 3.60421E-5 41618 0 0.00100806
1-94486896-G-A p.Arg1640Trp missense ABCA4 4 83248 4.80492E-5 41624 0 3.18193E-5
1-94486897-T-G p.Leu1639Phe missense ABCA4 1 83252 1.20117E-5 41626 0 3.97725E-6
1-94486903-G-A p.Ala1637Ala synonymous ABCA4 4 83254 4.80457E-5 41627 0 3.18431E-5
1-94486905-C-T p.Ala1637Thr missense ABCA4 9 83244 1.08116E-4 41622 0 1.03422E-4
1-94486906-G-A p.Asn1636Asn synonymous ABCA4 2 83240 2.40269E-5 41620 0 4.94307E-5
1-94486913-G-T p.Ala1634Asp missense ABCA4 1 83216 1.20169E-5 41608 0 NA
1-94486927-G-C p.Ser1629Arg missense ABCA4 1 83142 1.20276E-5 41571 0 3.97833E-6
1-94486959-A-C p.Phe1619Val missense ABCA4 1 82942 1.20566E-5 41471 0 NA
1-94486966-C-T c.4849-1G>A splice_acceptor ABCA4 1 82862 1.20683E-5 41431 0 4.12861E-5
1-94486969-G-A c.4849-4C>T splice_region ABCA4 2 82814 2.41505E-5 41407 0 3.18471E-5
1-94487203-T-C p.Asn1614Ser missense ABCA4 1 83122 1.20305E-5 41561 0 NA
1-94487221-T-C p.His1608Arg missense ABCA4 3 83202 3.60568E-5 41601 0 4.00776E-6
1-94487237-G-A p.Pro1603Ser missense ABCA4 2 83214 2.40344E-5 41607 0 6.37024E-5
1-94487238-T-C p.Ile1602Met missense ABCA4 1 83212 1.20175E-5 41606 0 NA
1-94487251-G-T p.Ala1598Asp missense ABCA4 5 83196 6.0099E-5 41598 0 0.00100705
1-94487252-C-T p.Ala1598Thr missense ABCA4 2 83204 2.40373E-5 41602 0 1.19969E-5
1-94487255-C-G p.Glu1597Gln missense ABCA4 1 83202 1.20189E-5 41601 0 3.99843E-6
1-94487264-T-C p.Ile1594Val missense ABCA4 3 83204 3.6056E-5 41602 0 NA
1-94487268-G-A p.Gly1592Gly splice_region+synonymous ABCA4 1 83202 1.20189E-5 41601 0 4.01626E-6
1-94487269-C-T p.Gly1592Asp missense+splice_region ABCA4 1 83200 1.20192E-5 41600 0 4.02615E-6
1-94487399-T-C c.4773+3A>G splice_region ABCA4 8 83336 9.59969E-5 41668 0 1.59266E-4
1-94487402-C-A p.Gly1591Gly splice_region+synonymous ABCA4 1 83334 1.19999E-5 41667 0 2.7843E-5
1-94487403-C-T p.Gly1591Glu missense+splice_region ABCA4 2 83336 2.39992E-5 41668 0 NA
1-94487404-C-T p.Gly1591Arg missense+splice_region ABCA4 274 83332 0.00328805 41666 1 0.005
1-94487410-C-T p.Val1589Met missense ABCA4 4 83340 4.79962E-5 41670 0 6.25E-4
1-94487415-A-G p.Met1587Thr missense ABCA4 1 83334 1.19999E-5 41667 0 6.37146E-5
1-94487421-C-T p.Arg1585Gln missense ABCA4 1 83342 1.19988E-5 41671 0 1.64913E-5
1-94487422-G-A p.Arg1585Trp missense ABCA4 2 83342 2.39975E-5 41671 0 6.37511E-5
1-94487427-A-G p.Leu1583Pro missense ABCA4 1 83346 1.19982E-5 41673 0 8.24171E-6
1-94487429-G-A p.Asp1582Asp synonymous ABCA4 2 83344 2.39969E-5 41672 0 6.36983E-5
1-94487431-C-T p.Asp1582Asn missense ABCA4 2 83344 2.39969E-5 41672 0 NA
1-94487432-G-A p.Ser1581Ser synonymous ABCA4 2 83344 2.39969E-5 41672 0 3.18613E-5
1-94487435-TAAAAAC-T p.Phe1579_Leu1580del disruptive_inframe_deletion ABCA4 1 83356 1.19967E-5 41678 0 NA
1-94487435-T-C p.Leu1580Leu synonymous ABCA4 1 83356 1.19967E-5 41678 0 7.95317E-6
1-94487436-A-G p.Leu1580Ser missense ABCA4 5 83358 5.99822E-5 41679 0 0.00100705
1-94487438-A-G p.Phe1579Phe synonymous ABCA4 2 83358 2.39929E-5 41679 0 3.97655E-6
1-94487441-C-CGG p.Phe1579fs frameshift ABCA4 1 83348 1.19979E-5 41674 0 NA
1-94487443-C-T p.Gly1578Arg missense ABCA4 1 83348 1.19979E-5 41674 0 8.23954E-6
1-94487449-G-A p.Leu1576Phe missense ABCA4 2 83344 2.39969E-5 41672 0 3.29598E-5
1-94487451-G-A p.Ala1575Val missense ABCA4 3 83338 3.5998E-5 41669 0 NA
1-94487457-C-G p.Gly1573Ala missense ABCA4 1 83328 1.20008E-5 41664 0 8.24076E-6
1-94487460-G-A p.Thr1572Met missense ABCA4 3 83332 3.60006E-5 41666 0 1.59297E-4
1-94487470-C-T p.Val1569Ile missense ABCA4 1 83302 1.20045E-5 41651 0 3.5793E-5
1-94487470-C-A p.Val1569Phe missense ABCA4 1 83302 1.20045E-5 41651 0 NA
1-94487471-G-A p.Val1568Val synonymous ABCA4 1 83298 1.20051E-5 41649 0 6.3674E-5
1-94487472-A-C p.Val1568Gly missense ABCA4 1 83288 1.20065E-5 41644 0 3.9769E-6
1-94487476-G-A p.Pro1567Ser missense ABCA4 1 83288 1.20065E-5 41644 0 3.1841E-5
1-94487479-G-A p.Leu1566Phe missense ABCA4 1 83278 1.2008E-5 41639 0 8.24851E-6
1-94487481-T-C p.Lys1565Arg missense ABCA4 1 83280 1.20077E-5 41640 0 NA
1-94487490-A-G p.Ile1562Thr missense ABCA4 90 83238 0.00108124 41619 0 0.00165573
1-94487491-T-C p.Ile1562Val missense ABCA4 2 83238 2.40275E-5 41619 0 3.9776E-6
1-94487505-T-C p.Tyr1557Cys missense+splice_region ABCA4 1 83146 1.2027E-5 41573 0 3.9788E-6
1-94488942-C-G p.Arg1556Thr missense+splice_region ABCA4 2 83168 2.40477E-5 41584 0 8.02549E-6
1-94488966-C-T p.Ser1548Asn missense ABCA4 1 83210 1.20178E-5 41605 0 5.81666E-5
1-94490520-T-C p.Ile1542Val missense ABCA4 1 83176 1.20227E-5 41588 0 3.18471E-5
1-94490525-G-C p.Ala1540Gly missense ABCA4 2 83200 2.40385E-5 41600 0 NA
1-94490527-A-C p.Pro1539Pro synonymous ABCA4 1 83208 1.20181E-5 41604 0 NA
1-94490533-C-T p.Thr1537Thr synonymous ABCA4 107 83220 0.00128575 41610 0 0.00149739
1-94490533-C-G p.Thr1537Thr synonymous ABCA4 2 83224 2.40315E-5 41612 0 9.55779E-5
1-94490534-G-A p.Thr1537Met missense ABCA4 2 83218 2.40333E-5 41609 0 1.31226E-4
1-94490540-A-G p.Val1535Ala missense ABCA4 1 83250 1.2012E-5 41625 0 NA
1-94490550-C-T p.Asp1532Asn missense ABCA4 15 83292 1.80089E-4 41646 0 1.07365E-4
1-94490560-C-A p.Arg1528Ser missense ABCA4 2 83308 2.40073E-5 41654 0 3.18471E-5
1-94490566-C-T p.Thr1526Thr synonymous ABCA4 46 83314 5.52128E-4 41657 0 1.91083E-4
1-94490567-G-A p.Thr1526Met missense ABCA4 5 83312 6.00154E-5 41656 0 1.59236E-4
1-94490571-G-A p.Leu1525Leu synonymous ABCA4 7 83324 8.40094E-5 41662 0 8.23683E-6
1-94490587-C-T p.Thr1519Thr synonymous ABCA4 2 83302 2.4009E-5 41651 1 3.18532E-5
1-94490588-G-A p.Thr1519Met missense ABCA4 7 83304 8.40296E-5 41652 0 2.22944E-4
1-94490590-G-A p.Ser1518Ser synonymous ABCA4 1 83306 1.20039E-5 41653 0 NA
1-94490595-G-T p.Arg1517Ser missense ABCA4 2 83296 2.40108E-5 41648 0 8.23683E-6
1-94490610-G-A c.4540-6C>T splice_region ABCA4 7 83294 8.40397E-5 41647 0 9.55536E-5
1-94490612-A-G c.4540-8T>C splice_region ABCA4 2 83280 2.40154E-5 41640 0 3.97649E-6
1-94495002-T-TG p.Gln1513fs frameshift ABCA4 1 81452 1.22772E-5 40726 0 5.12295E-4
1-94495002-T-TGG p.Gln1513fs frameshift ABCA4 1 81472 1.22742E-5 40736 0 NA
1-94495003-G-C p.Gln1513Glu missense+splice_region ABCA4 1 81468 1.22748E-5 40734 0 6.26881E-5
1-94495004-G-T p.Pro1512Pro synonymous ABCA4 1 81458 1.22763E-5 40729 0 1.90464E-5
1-94495004-G-A p.Pro1512Pro synonymous ABCA4 1 81458 1.22763E-5 40729 0 1.26976E-5
1-94495005-G-C p.Pro1512Arg missense ABCA4 4 81496 4.90822E-5 40748 0 6.30183E-6
1-94495005-G-T p.Pro1512His missense ABCA4 2 81496 2.45411E-5 40748 0 3.7811E-5
1-94495006-G-A p.Pro1512Ser missense ABCA4 1 81518 1.22672E-5 40759 0 NA
1-94495008-G-T p.Pro1511His missense ABCA4 1 81500 1.22699E-5 40750 0 3.18593E-5
1-94495010-C-T p.Pro1510Pro synonymous ABCA4 2 81312 2.45966E-5 40656 0 0.00105042
1-94495016-G-T p.Gly1508Gly synonymous ABCA4 2 81610 2.45068E-5 40805 0 0.00103734
1-94495021-C-T p.Gly1507Arg missense ABCA4 4 81736 4.8938E-5 40868 0 1.62076E-4
1-94495022-G-A p.Ala1506Ala synonymous ABCA4 2 81698 2.44804E-5 40849 0 2.30007E-5
1-94495030-C-T p.Glu1504Lys missense ABCA4 3 81816 3.66676E-5 40908 0 3.81942E-5
1-94495031-G-A p.Pro1503Pro synonymous ABCA4 2 81804 2.44487E-5 40902 0 0.00102459
1-94495034-G-A p.Cys1502Cys synonymous ABCA4 4 81960 4.88043E-5 40980 0 3.43124E-5
1-94495037-C-G p.Glu1501Asp missense ABCA4 129 82006 0.00157306 41003 3 0.00286624
1-94495039-C-A p.Glu1501* stop_gained ABCA4 2 82056 2.43736E-5 41028 0 NA
1-94495040-T-C p.Pro1500Pro synonymous ABCA4 1 82056 1.21868E-5 41028 0 NA
1-94495042-G-A p.Pro1500Ser missense ABCA4 1 82092 1.21815E-5 41046 0 NA
1-94495044-A-T p.Leu1499Gln missense ABCA4 1 82144 1.21737E-5 41072 0 NA
1-94495069-T-C p.Ser1491Gly missense ABCA4 2 82570 2.42219E-5 41285 0 3.18492E-5
1-94495071-C-T p.Cys1490Tyr missense ABCA4 5 82580 6.05473E-5 41290 0 1.99614E-4
1-94495073-C-A p.Arg1489Ser missense ABCA4 41 82616 4.96272E-4 41308 0 6.68875E-4
1-94495078-A-G p.Cys1488Arg missense ABCA4 1 82720 1.2089E-5 41360 0 6.25E-4
1-94495082-T-A p.Pro1486Pro synonymous ABCA4 1 82786 1.20793E-5 41393 0 NA
1-94495083-G-A p.Pro1486Leu missense ABCA4 9 82800 1.08696E-4 41400 0 1.42531E-4
1-94495096-C-T p.Val1482Ile missense ABCA4 1 82940 1.20569E-5 41470 0 3.18492E-5
1-94495099-G-T p.Gln1481Lys missense ABCA4 2 82990 2.40993E-5 41495 0 2.03803E-5
1-94495104-C-T p.Trp1479* stop_gained ABCA4 2 83028 2.40883E-5 41514 0 NA
1-94495112-C-T p.Lys1476Lys synonymous ABCA4 2 83058 2.40796E-5 41529 0 1.85567E-5
1-94495123-G-T p.Leu1473Met missense ABCA4 5 83128 6.01482E-5 41564 0 0.00125
1-94495133-G-A p.Asn1469Asn synonymous ABCA4 1 83132 1.20291E-5 41566 0 NA
1-94495135-T-C p.Asn1469Asp missense ABCA4 1 83136 1.20285E-5 41568 0 3.58349E-5
1-94495139-G-A p.Ser1467Ser synonymous ABCA4 30 83118 3.60933E-4 41559 0 9.55718E-5
1-94495139-G-C p.Ser1467Ser synonymous ABCA4 1 83118 1.20311E-5 41559 0 NA
1-94495146-G-A p.Ser1465Phe missense ABCA4 1 83132 1.20291E-5 41566 0 8.65951E-6
1-94495149-G-A p.Pro1464Leu missense ABCA4 1 83118 1.20311E-5 41559 0 3.46494E-5
1-94495153-T-G p.Thr1463Pro missense ABCA4 1 83098 1.2034E-5 41549 0 6.38855E-5
1-94495153-T-A p.Thr1463Ser missense ABCA4 1 83098 1.2034E-5 41549 0 7.96553E-6
1-94495162-G-A p.Pro1460Ser missense ABCA4 2 83094 2.40691E-5 41547 0 7.97092E-6
1-94495169-G-A p.Asn1457Asn synonymous ABCA4 1 83058 1.20398E-5 41529 0 1.59523E-5
1-94495191-A-G c.4353-4T>C splice_region ABCA4 24 82894 2.89526E-4 41447 0 6.31056E-4
1-94495977-C-G c.4352+7G>C splice_region ABCA4 1 83226 1.20155E-5 41613 0 3.97785E-6
1-94495983-C-T c.4352+1G>A splice_donor ABCA4 2 83256 2.40223E-5 41628 0 1.19327E-5
1-94495984-G-A p.Pro1451Leu missense+splice_region ABCA4 1 83266 1.20097E-5 41633 0 6.36983E-5
1-94495994-C-T p.Gly1448Arg missense ABCA4 20 83304 2.40085E-4 41652 1 6.36862E-4
1-94496007-G-A p.Arg1443Arg synonymous ABCA4 1 83320 1.20019E-5 41660 0 7.95311E-6
1-94496008-C-T p.Arg1443His missense ABCA4 4 83314 4.80111E-5 41657 0 3.18512E-5
1-94496009-G-A p.Arg1443Cys missense ABCA4 1 83322 1.20016E-5 41661 0 6.37024E-5
1-94496013-G-A p.Gly1441Gly synonymous ABCA4 3 83316 3.60075E-5 41658 0 8.2394E-6
1-94496039-C-T p.Val1433Ile missense ABCA4 143 83336 0.00171595 41668 0 0.00203809
1-94496040-G-A p.Asp1432Asp synonymous ABCA4 14 83338 1.67991E-4 41669 0 0.00151057
1-94496052-C-T p.Thr1428Thr synonymous ABCA4 9 83320 1.08017E-4 41660 0 1.91071E-4
1-94496053-G-A p.Thr1428Met missense ABCA4 102 83318 0.00122423 41659 5 0.00457315
1-94496065-C-A p.Ser1424Ile missense ABCA4 3 83322 3.60049E-5 41661 0 8.23859E-6
1-94496076-A-G p.Asp1420Asp synonymous ABCA4 2 83292 2.40119E-5 41646 0 NA
1-94496080-A-G p.Met1419Thr missense+splice_region ABCA4 19 83280 2.28146E-4 41640 0 0.00117837
1-94496090-G-C c.4254-8C>G splice_region ABCA4 1 83220 1.20163E-5 41610 0 NA
1-94496545-C-T c.4253+7G>A splice_region ABCA4 4 83156 4.81024E-5 41578 0 9.10777E-5
1-94496546-G-A c.4253+6C>T splice_region ABCA4 2 83174 2.4046E-5 41587 0 1.27486E-4
1-94496547-C-A c.4253+5G>T splice_region ABCA4 3 83184 3.60646E-5 41592 0 8.27828E-6
1-94496548-G-A c.4253+4C>T splice_region ABCA4 2 83200 2.40385E-5 41600 0 2.38779E-5
1-94496553-TGAA-T p.Phe1417del conservative_inframe_deletion ABCA4 1 83270 1.20091E-5 41635 0 NA
1-94496557-G-T p.Phe1416Leu missense ABCA4 1 83268 1.20094E-5 41634 0 1.1935E-5
1-94496565-A-G p.Tyr1414His missense ABCA4 1 83286 1.20068E-5 41643 0 NA
1-94496571-G-A p.Gln1412* stop_gained ABCA4 3 83296 3.60161E-5 41648 0 3.18492E-5
1-94496572-C-A p.Gly1411Gly synonymous ABCA4 1 83292 1.2006E-5 41646 0 NA
1-94496573-C-T p.Gly1411Glu missense ABCA4 1 83294 1.20057E-5 41647 0 3.97829E-6
1-94496575-A-G p.Tyr1410Tyr synonymous ABCA4 4 83314 4.80111E-5 41657 0 3.18471E-5
1-94496583-A-G p.Trp1408Arg missense ABCA4 1 83316 1.20025E-5 41658 0 1.59133E-5
1-94496589-G-C p.His1406Asp missense ABCA4 2 83322 2.40033E-5 41661 0 NA
1-94496590-A-G p.Leu1405Leu synonymous ABCA4 2 83318 2.40044E-5 41659 0 NA
1-94496592-G-T p.Leu1405Ile missense ABCA4 1 83332 1.20002E-5 41666 0 NA
1-94496601-CG-C p.Ala1402fs frameshift ABCA4 3 83348 3.59937E-5 41674 0 NA
1-94496601-C-A p.Ala1402Ser missense ABCA4 1 83348 1.19979E-5 41674 0 1.65615E-5
1-94496601-C-T p.Ala1402Thr missense ABCA4 2 83348 2.39958E-5 41674 0 9.55901E-5
1-94496602-G-T p.Pro1401Pro synonymous ABCA4 1959 83344 0.023505 41672 23 0.0244931
1-94496602-G-A p.Pro1401Pro synonymous ABCA4 37 83362 4.43847E-4 41681 2 0.0011762
1-94496610-C-T p.Glu1399Lys missense ABCA4 1 83368 1.1995E-5 41684 0 3.18593E-5
1-94496622-G-A p.Pro1395Ser missense ABCA4 3 83390 3.59755E-5 41695 0 3.18471E-5
1-94496627-A-G p.Val1393Ala missense ABCA4 1 83384 1.19927E-5 41692 0 3.1837E-5
1-94496628-C-T p.Val1393Ile missense ABCA4 1 83384 1.19927E-5 41692 0 3.98035E-6
1-94496636-A-G p.Leu1390Pro missense ABCA4 1 83376 1.19939E-5 41688 0 9.55171E-5
1-94496652-A-C p.Phe1385Val missense ABCA4 3 83376 3.59816E-5 41688 0 2.50593E-5
1-94496652-A-T p.Phe1385Ile missense ABCA4 1 83376 1.19939E-5 41688 0 3.98089E-6
1-94496666-G-A p.Pro1380Leu missense ABCA4 19 83368 2.27905E-4 41684 0 2.38964E-4
1-94496668-G-C p.Leu1379Leu synonymous ABCA4 1 83376 1.19939E-5 41688 0 NA
1-94496670-G-GT p.Leu1379fs frameshift ABCA4 1 83376 1.19939E-5 41688 0 NA
1-94496671-CACGA-C p.Ile1377fs frameshift ABCA4 1 83376 1.19939E-5 41688 0 NA
1-94496673-C-T p.Val1378Met missense ABCA4 4 83374 4.79766E-5 41687 0 2.39008E-5
1-94496674-G-A p.Ile1377Ile splice_region+synonymous ABCA4 4 83378 4.79743E-5 41689 0 2.51927E-5
1-94497337-C-T p.Ala1375Ala synonymous ABCA4 9 82584 1.0898E-4 41292 0 0.00201613
1-94497338-G-A p.Ala1375Val missense ABCA4 1 82582 1.21092E-5 41291 0 1.20384E-5
1-94497352-GT-G p.His1370fs frameshift ABCA4 1 82744 1.20855E-5 41372 0 NA
1-94497359-C-T p.Arg1368His missense ABCA4 3 82632 3.63055E-5 41316 0 3.18634E-5
1-94497360-G-C p.Arg1368Gly missense ABCA4 1 82666 1.20969E-5 41333 0 3.18593E-5
1-94497360-G-A p.Arg1368Cys missense ABCA4 2 82666 2.41937E-5 41333 0 4.00911E-6
1-94497362-A-G p.Ile1367Thr missense ABCA4 3 82580 3.63284E-5 41290 0 8.01873E-6
1-94497372-G-T p.Gln1364Lys missense ABCA4 2 82734 2.41739E-5 41367 0 NA
1-94497373-G-A p.Phe1363Phe synonymous ABCA4 2 82744 2.41709E-5 41372 0 8.24144E-6
1-94497383-A-G p.Val1360Ala missense ABCA4 1 82780 1.20802E-5 41390 0 NA
1-94497391-C-T p.Ala1357Ala synonymous ABCA4 4 82800 4.83092E-5 41400 0 6.25E-4
1-94497395-T-G p.Gln1356Pro missense ABCA4 2 82866 2.41354E-5 41433 0 3.99667E-6
1-94497398-A-G p.Val1355Ala missense ABCA4 1 82940 1.20569E-5 41470 0 1.64788E-5
1-94497401-T-G p.His1354Pro missense ABCA4 1 82950 1.20555E-5 41475 0 NA
1-94497412-C-G p.Leu1350Leu synonymous ABCA4 104 83008 0.00125289 41504 1 0.006875
1-94497412-C-T p.Leu1350Leu synonymous ABCA4 1 83008 1.2047E-5 41504 0 3.18492E-5
1-94497417-G-GT p.Gln1349fs frameshift ABCA4 1 83012 1.20465E-5 41506 0 3.18492E-5
1-94497424-C-T p.Thr1346Thr synonymous ABCA4 6 83024 7.22683E-5 41512 0 4.12072E-5
1-94497427-G-A p.Asn1345Asn synonymous ABCA4 1 83022 1.2045E-5 41511 0 NA
1-94497428-T-C p.Asn1345Ser missense ABCA4 1 83020 1.20453E-5 41510 0 7.97238E-6
1-94497436-C-T p.Pro1342Pro synonymous ABCA4 8 83048 9.63298E-5 41524 0 4.12276E-5
1-94497437-G-A p.Pro1342Leu missense ABCA4 2 83076 2.40743E-5 41538 0 9.55353E-5
1-94497442-T-C p.Pro1340Pro synonymous ABCA4 3 83108 3.60976E-5 41554 0 9.55536E-5
1-94497454-C-A p.Glu1336Asp missense ABCA4 1 83094 1.20346E-5 41547 0 NA
1-94497456-C-G p.Glu1336Gln missense ABCA4 1 83090 1.20351E-5 41545 0 8.25655E-6
1-94497461-G-A p.Pro1334Leu missense ABCA4 1 83070 1.2038E-5 41535 0 2.47713E-5
1-94497463-A-G p.Pro1333Pro synonymous ABCA4 1 83044 1.20418E-5 41522 0 8.25846E-6
1-94497487-C-T p.Pro1325Pro synonymous ABCA4 1 83014 1.20462E-5 41507 0 3.18674E-5
1-94497490-C-T p.Ala1324Ala synonymous ABCA4 1 82982 1.20508E-5 41491 0 4.14731E-5
1-94497493-C-A p.Gly1323Gly synonymous ABCA4 2 83022 2.409E-5 41511 0 NA
1-94497498-G-A p.Pro1322Ser missense ABCA4 1 83080 1.20366E-5 41540 0 1.19577E-5
1-94497500-G-A p.Ser1321Phe missense ABCA4 2 83102 2.40668E-5 41551 0 5.18036E-5
1-94497501-A-G p.Ser1321Pro missense ABCA4 1 83080 1.20366E-5 41540 0 NA
1-94497509-T-C p.Asn1318Ser missense ABCA4 2 83148 2.40535E-5 41574 0 3.18817E-5
1-94497516-C-A p.Asp1316Tyr missense ABCA4 1 83166 1.20241E-5 41583 0 3.98419E-6
1-94497522-G-T p.Pro1314Thr missense ABCA4 5 83168 6.01193E-5 41584 0 6.37471E-5
1-94497525-T-G p.Thr1313Pro missense ABCA4 1 83164 1.20244E-5 41582 0 3.98479E-6
1-94497526-C-G p.Gln1312His missense ABCA4 2 83164 2.40489E-5 41582 0 1.66312E-5
1-94497530-C-G p.Gly1311Ala missense ABCA4 1 83142 1.20276E-5 41571 0 NA
1-94497531-C-T p.Gly1311Arg missense ABCA4 1 83154 1.20259E-5 41577 0 NA
1-94497538-C-T p.Glu1308Glu synonymous ABCA4 1 83152 1.20262E-5 41576 0 8.33639E-6
1-94497548-C-T p.Gly1305Asp missense ABCA4 1 83106 1.20328E-5 41553 0 3.18837E-5
1-94497549-C-T p.Gly1305Ser missense ABCA4 2 83104 2.40662E-5 41552 0 NA
1-94497550-C-G p.Leu1304Phe missense ABCA4 1 83100 1.20337E-5 41550 0 NA
1-94497557-G-T p.Pro1302His missense ABCA4 1 83092 1.20349E-5 41546 0 NA
1-94497563-C-T p.Arg1300Gln missense ABCA4 805 83042 0.00969389 41521 11 0.0191461
1-94497564-G-A p.Arg1300* stop_gained ABCA4 3 83034 3.61298E-5 41517 0 3.37371E-5
1-94497573-C-T p.Val1297Ile missense ABCA4 2 82954 2.41097E-5 41477 0 9.67095E-5
1-94497574-G-A p.Asn1296Asn synonymous ABCA4 2 82964 2.41068E-5 41482 0 4.22747E-5
1-94497579-C-T p.Glu1295Lys missense ABCA4 1 82926 1.20589E-5 41463 0 3.19E-5
1-94497590-T-A p.Gln1291Leu missense ABCA4 2 82786 2.41587E-5 41393 0 NA
1-94497595-G-A p.Gly1289Gly synonymous ABCA4 6 82700 7.25514E-5 41350 0 0.00125
1-94502295-C-T c.3862+1G>A splice_donor ABCA4 1 83322 1.20016E-5 41661 0 NA
1-94502296-C-G p.Gly1288Arg missense+splice_region ABCA4 1 83324 1.20013E-5 41662 0 8.23778E-6
1-94502302-A-G p.Phe1286Leu missense ABCA4 1 83330 1.20005E-5 41665 0 3.9764E-6
1-94502311-CT-C p.Gly1283fs frameshift ABCA4 2 83326 2.40021E-5 41663 0 NA
1-94502312-TGAATCA-T p.Asp1281_Ser1282del disruptive_inframe_deletion ABCA4 20 83324 2.40027E-4 41662 0 2.96579E-4
1-94502312-T-C p.Ser1282Ser synonymous ABCA4 1 83326 1.20011E-5 41663 0 NA
1-94502327-C-T p.Thr1277Thr synonymous ABCA4 290 83316 0.00348072 41658 5 0.0076168
1-94502328-G-A p.Thr1277Met missense ABCA4 4 83322 4.80065E-5 41661 0 3.1334E-4
1-94502350-A-G c.3814-6T>C splice_region ABCA4 2 83294 2.40113E-5 41647 0 3.18532E-5
1-94502692-CTACTT-C c.3813+4_3813+8delAAGTA splice_region ABCA4 1 83012 1.20465E-5 41506 0 NA
1-94502694-A-G c.3813+7T>C splice_region ABCA4 2 83032 2.40871E-5 41516 0 9.09557E-5
1-94502737-G-A p.Leu1259Leu synonymous ABCA4 2 83162 2.40494E-5 41581 0 NA
1-94502739-G-T p.Leu1259Ile missense ABCA4 1 83166 1.20241E-5 41583 0 NA
1-94502750-G-A p.Ala1255Val missense ABCA4 1 83140 1.20279E-5 41570 0 2.78494E-5
1-94502754-G-A p.Leu1254Leu synonymous ABCA4 2 83140 2.40558E-5 41570 0 3.1835E-5
1-94502755-C-T p.Thr1253Thr synonymous ABCA4 94 83124 0.00113084 41562 0 0.00159175
1-94502756-G-A p.Thr1253Met missense ABCA4 45 83132 5.41308E-4 41566 0 5.03525E-4
1-94502759-TC-AG p.Glu1252Leu missense ABCA4 1 83134 1.20288E-5 41567 0 NA
1-94502759-T-A p.Glu1252Val missense ABCA4 2 83134 2.40575E-5 41567 0 6.25E-4
1-94502760-C-T p.Glu1252Lys missense ABCA4 1 83130 1.20294E-5 41565 0 1.5912E-5
1-94502771-C-T p.Arg1248Lys missense ABCA4 1 83118 1.20311E-5 41559 0 3.18431E-5
1-94502780-C-T p.Ser1245Asn missense ABCA4 1 83098 1.2034E-5 41549 0 3.97871E-6
1-94502780-C-G p.Ser1245Thr missense ABCA4 1 83098 1.2034E-5 41549 0 NA
1-94502791-T-C p.Arg1241Arg synonymous ABCA4 4 83078 4.81475E-5 41539 0 NA
1-94502792-C-T p.Arg1241Lys missense ABCA4 1 83080 1.20366E-5 41540 0 8.25178E-6
1-94502808-T-C p.Lys1236Glu missense ABCA4 2 83020 2.40906E-5 41510 0 1.65101E-5
1-94502844-A-C p.Cys1224Gly missense ABCA4 1 82966 1.20531E-5 41483 0 1.65262E-5
1-94502851-C-T p.Leu1221Leu synonymous ABCA4 10 82960 1.2054E-4 41480 0 6.36821E-5
1-94502854-C-T p.Lys1220Lys synonymous ABCA4 1 82964 1.20534E-5 41482 0 1.19423E-5
1-94502869-ATGG-A p.His1215del disruptive_inframe_deletion ABCA4 1 82930 1.20584E-5 41465 0 NA
1-94502877-G-A p.Leu1213Phe missense ABCA4 14 82854 1.68972E-4 41427 0 0.00453172
1-94502878-A-T p.Val1212Val synonymous ABCA4 2 82852 2.41394E-5 41426 0 2.54793E-4
1-94502883-C-T p.Val1211Ile missense ABCA4 1 82836 1.2072E-5 41418 0 NA
1-94502888-A-G p.Met1209Thr missense ABCA4 112 82774 0.00135308 41387 1 0.004375
1-94502895-C-T p.Glu1207Lys missense ABCA4 3 82672 3.6288E-5 41336 0 6.3674E-5
1-94502904-C-T p.Asp1204Asn missense+splice_region ABCA4 2 82540 2.42307E-5 41270 0 6.36862E-5
1-94502906-C-T p.Gly1203Glu missense+splice_region ABCA4 46 82482 5.57697E-4 41241 0 6.25E-4
1-94502913-C-T c.3608-7G>A splice_region ABCA4 1 82290 1.21521E-5 41145 0 4.00112E-6
1-94502914-A-G c.3608-8T>C splice_region ABCA4 2 82244 2.43179E-5 41122 0 NA
1-94505604-A-C p.Leu1201Arg missense ABCA4 1017 82278 0.0123605 41139 44 0.0266565
1-94505616-G-A p.Pro1197Leu missense ABCA4 1 82360 1.21418E-5 41180 0 NA
1-94505620-T-A p.Thr1196Ser missense ABCA4 7 82372 8.49803E-5 41186 0 3.9672E-5
1-94505627-A-G p.Asp1193Asp synonymous ABCA4 3 82420 3.63989E-5 41210 0 6.37146E-5
1-94505627-A-T p.Asp1193Glu missense ABCA4 1 82420 1.2133E-5 41210 0 3.18573E-5
1-94505629-C-T p.Asp1193Asn missense ABCA4 1 82416 1.21336E-5 41208 0 6.25E-4
1-94505630-G-A p.Val1192Val synonymous ABCA4 5 82414 6.06693E-5 41207 0 2.33875E-4
1-94505638-C-T p.Ala1190Thr missense ABCA4 16 82458 1.94038E-4 41229 0 2.38317E-4
1-94505645-C-T p.Thr1187Thr synonymous ABCA4 5 82436 6.06531E-5 41218 0 9.41487E-5
1-94505649-G-A p.Thr1186Ile missense ABCA4 1 82462 1.21268E-5 41231 0 NA
1-94505659-C-A p.Gly1183Cys missense ABCA4 30 82474 3.63751E-4 41237 0 0.00121219
1-94505666-C-T p.Ser1180Ser synonymous ABCA4 1 82434 1.21309E-5 41217 0 3.72495E-5
1-94505667-G-A p.Ser1180Leu missense ABCA4 1 82428 1.21318E-5 41214 0 3.7243E-5
1-94506778-C-G p.Arg1170Thr missense ABCA4 4 83290 4.8025E-5 41645 0 3.18492E-5
1-94506781-T-C p.Gln1169Arg missense ABCA4 1 83298 1.20051E-5 41649 0 2.47219E-5
1-94506786-C-G p.Gln1167His missense ABCA4 2 83298 2.40102E-5 41649 0 NA
1-94506787-T-C p.Gln1167Arg missense ABCA4 1 83302 1.20045E-5 41651 0 NA
1-94506792-G-A p.Asn1165Asn synonymous ABCA4 1 83310 1.20034E-5 41655 0 3.97652E-6
1-94506806-G-A p.Arg1161Cys missense ABCA4 2 83322 2.40033E-5 41661 0 5.03525E-4
1-94506819-G-A p.Tyr1156Tyr synonymous ABCA4 21 83348 2.51956E-4 41674 0 6.0525E-4
1-94506831-G-A p.Gly1152Gly synonymous ABCA4 1 83350 1.19976E-5 41675 0 NA
1-94506838-C-T p.Cys1150Tyr missense ABCA4 1 83350 1.19976E-5 41675 0 2.47129E-5
1-94506853-A-C p.Leu1145Arg missense ABCA4 1 83340 1.1999E-5 41670 0 NA
1-94506865-G-A p.Ser1141Leu missense ABCA4 2 83342 2.39975E-5 41671 0 1.6475E-5
1-94506871-T-C p.Tyr1139Cys missense ABCA4 21 83344 2.51968E-4 41672 0 0.00100705
1-94506873-G-C p.Leu1138Leu synonymous ABCA4 2 83348 2.39958E-5 41674 0 3.18837E-5
1-94506874-A-G p.Leu1138Pro missense ABCA4 1 83348 1.19979E-5 41674 0 3.19061E-5
1-94506878-T-C p.Arg1137Gly missense ABCA4 1 83350 1.19976E-5 41675 0 3.97652E-6
1-94506886-G-T p.Ala1134Asp missense ABCA4 1 83336 1.19996E-5 41668 0 8.2375E-6
1-94506901-C-A p.Arg1129Leu missense ABCA4 16 83316 1.9204E-4 41658 0 3.06236E-4
1-94506901-C-T p.Arg1129His missense ABCA4 2 83316 2.4005E-5 41658 0 3.97709E-6
1-94506902-G-A p.Arg1129Cys missense ABCA4 1 83320 1.20019E-5 41660 0 1.6475E-5
1-94506903-G-C p.Asp1128Glu missense ABCA4 1 83320 1.20019E-5 41660 0 1.64753E-5
1-94506918-G-A p.Ala1123Ala synonymous ABCA4 1 83282 1.20074E-5 41641 0 7.95361E-6
1-94506923-C-T p.Glu1122Lys missense ABCA4 2 83274 2.40171E-5 41637 0 6.38325E-5
1-94506924-G-A p.Asp1121Asp synonymous ABCA4 10 83266 1.20097E-4 41633 0 1.23569E-4
1-94506926-C-T p.Asp1121Asn missense ABCA4 1 83266 1.20097E-5 41633 0 NA
1-94508322-C-T p.Arg1108His missense ABCA4 9 83046 1.08374E-4 41523 0 1.64897E-5
1-94508322-C-A p.Arg1108Leu missense ABCA4 1 83046 1.20415E-5 41523 0 NA
1-94508323-G-A p.Arg1108Cys missense ABCA4 10 83064 1.20389E-4 41532 0 6.25E-4
1-94508327-C-T p.Lys1106Lys synonymous ABCA4 1 83100 1.20337E-5 41550 0 8.24307E-6
1-94508339-A-C p.Asp1102Glu missense ABCA4 1 83184 1.20215E-5 41592 0 NA
1-94508341-C-T p.Asp1102Asn missense ABCA4 1 83180 1.20221E-5 41590 0 3.18512E-5
1-94508341-C-A p.Asp1102Tyr missense ABCA4 2 83180 2.40442E-5 41590 0 6.37024E-5
1-94508345-G-C p.Ile1100Met missense ABCA4 1 83192 1.20204E-5 41596 0 NA
1-94508348-T-G p.Ser1099Ser synonymous ABCA4 17 83200 2.04327E-4 41600 0 7.96381E-4
1-94508353-G-A p.Arg1098Cys missense ABCA4 4 83220 4.80654E-5 41610 0 0.00100705
1-94508356-T-C p.Arg1097Gly missense ABCA4 1 83230 1.20149E-5 41615 0 NA
1-94508357-C-T p.Ser1096Ser synonymous ABCA4 1 83232 1.20146E-5 41616 0 8.23995E-6
1-94508360-G-A p.Tyr1095Tyr synonymous ABCA4 5 83258 6.00543E-5 41629 0 1.27372E-4
1-94508381-G-A p.Pro1088Pro synonymous ABCA4 29 83286 3.48198E-4 41643 0 0.00302115
1-94508384-T-G p.Glu1087Asp missense ABCA4 1 83288 1.20065E-5 41644 0 NA
1-94508386-C-T p.Glu1087Lys missense ABCA4 5 83280 6.00384E-5 41640 0 6.25E-4
1-94508387-G-A p.Asp1086Asp synonymous ABCA4 3 83292 3.60179E-5 41646 0 4.11936E-5
1-94508409-T-A p.Asp1079Val missense ABCA4 1 83316 1.20025E-5 41658 0 NA
1-94508425-T-C p.Ile1074Val missense ABCA4 12 83318 1.44027E-4 41659 0 1.27445E-4
1-94508427-G-A p.Ala1073Val missense ABCA4 2 83318 2.40044E-5 41659 0 8.2394E-6
1-94508428-C-T p.Ala1073Thr missense ABCA4 1 83318 1.20022E-5 41659 0 3.97662E-6
1-94508432-C-T p.Ser1071Ser synonymous ABCA4 8 83308 9.60292E-5 41654 0 1.59215E-4
1-94508433-G-GAC p.Ser1071fs frameshift ABCA4 1 83302 1.20045E-5 41651 0 3.29582E-5
1-94508433-G-A p.Ser1071Leu missense ABCA4 4 83302 4.80181E-5 41651 0 1.64791E-5
1-94508435-C-T p.Leu1070Leu synonymous ABCA4 1 83300 1.20048E-5 41650 0 2.38599E-5
1-94508439-T-C p.Lys1069Arg missense ABCA4 1 83296 1.20054E-5 41648 0 8.24022E-6
1-94508441-T-C p.Arg1068Arg synonymous ABCA4 8 83278 9.60638E-5 41639 0 4.12031E-5
1-94508448-A-G p.Met1066Thr missense ABCA4 1 83262 1.20103E-5 41631 0 8.24362E-6
1-94508461-G-A c.3191-7C>T splice_region ABCA4 1 83192 1.20204E-5 41596 0 1.64932E-5
1-94508888-G-A c.3190+4C>T splice_region ABCA4 2 82026 2.43825E-5 41013 0 NA
1-94508907-C-A p.Ala1059Ser missense ABCA4 2 82520 2.42365E-5 41260 0 2.47443E-5
1-94508910-C-G p.Glu1058Gln missense ABCA4 1 82594 1.21074E-5 41297 0 3.98054E-6
1-94508918-C-T p.Arg1055Gln missense ABCA4 5 82656 6.04917E-5 41328 0 1.40192E-4
1-94508919-G-A p.Arg1055Trp missense ABCA4 3 82636 3.63038E-5 41318 0 7.4217E-5
1-94508926-G-A p.His1052His synonymous ABCA4 2 82794 2.41563E-5 41397 0 NA
1-94508933-C-T p.Gly1050Asp missense ABCA4 7 82818 8.45227E-5 41409 0 2.78571E-5
1-94508934-CTG-C p.Thr1049fs frameshift ABCA4 1 82844 1.20709E-5 41422 0 NA
1-94508952-C-T p.Ala1044Thr missense ABCA4 1 82938 1.20572E-5 41469 0 NA
1-94508963-A-G p.Leu1040Pro missense ABCA4 2 82984 2.4101E-5 41492 0 1.64861E-5
1-94508969-G-A p.Ala1038Val missense ABCA4 126 82950 0.00151899 41475 1 0.00235804
1-94508976-C-T p.Glu1036Lys missense ABCA4 1 83014 1.20462E-5 41507 0 1.19372E-5
1-94508979-G-C p.Gln1035Glu missense ABCA4 4 83012 4.81858E-5 41506 0 1.19373E-5
1-94508980-G-T p.Ser1034Ser synonymous ABCA4 2 82994 2.40981E-5 41497 0 NA
1-94508982-A-T p.Ser1034Thr missense ABCA4 1 82988 1.20499E-5 41494 0 NA
1-94508986-T-A p.Gly1032Gly synonymous ABCA4 1 82992 1.20494E-5 41496 0 1.64894E-5
1-94508988-C-G p.Gly1032Arg missense ABCA4 1 82998 1.20485E-5 41499 0 8.24484E-6
1-94508993-A-T p.Leu1030Gln missense ABCA4 3 83000 3.61446E-5 41500 0 NA
1-94508994-G-C p.Leu1030Val missense ABCA4 1 82992 1.20494E-5 41496 0 NA
1-94509001-A-G p.Tyr1027Tyr synonymous ABCA4 2 83000 2.40964E-5 41500 0 NA
1-94509004-GAA-CAG p.Phe1026Leu missense ABCA4 1 82998 1.20485E-5 41499 0 NA
1-94509006-A-G p.Phe1026Leu missense ABCA4 11 82994 1.3254E-4 41497 0 3.50452E-4
1-94509019-A-C p.Ala1021Ala synonymous ABCA4 2 82940 2.41138E-5 41470 0 1.59193E-5
1-94509025-C-T p.Thr1019Thr synonymous ABCA4 5 82908 6.03078E-5 41454 0 8.26405E-5
1-94509034-A-G c.3051-3T>C splice_region ABCA4 3 82838 3.62153E-5 41419 0 6.37024E-5
1-94510163-G-A c.3050+6C>T splice_region ABCA4 1 83292 1.2006E-5 41646 0 3.29527E-5
1-94510164-C-T c.3050+5G>A splice_region ABCA4 2 83308 2.40073E-5 41654 0 1.64764E-5
1-94510176-A-G p.Phe1015Leu missense ABCA4 1 83332 1.20002E-5 41666 0 NA
1-94510189-C-T p.Gln1010Gln synonymous ABCA4 1 83330 1.20005E-5 41665 0 NA
1-94510191-G-A p.Gln1010* stop_gained ABCA4 1 83334 1.19999E-5 41667 0 NA
1-94510207-G-C p.Ser1004Arg missense ABCA4 1 83342 1.19988E-5 41671 0 NA
1-94510215-G-A p.Arg1002Trp missense ABCA4 1 83356 1.19967E-5 41678 0 1.64742E-5
1-94510218-C-A p.Val1001Phe missense ABCA4 1 83358 1.19964E-5 41679 0 NA
1-94510220-G-A p.Ala1000Val missense ABCA4 2 83364 2.39912E-5 41682 0 3.18107E-5
1-94510223-T-A p.Asp999Val missense ABCA4 1 83364 1.19956E-5 41682 0 NA
1-94510227-G-A p.Leu998Leu synonymous ABCA4 1 83370 1.19947E-5 41685 0 8.23696E-6
1-94510228-G-T p.Ser997Arg missense ABCA4 1 83370 1.19947E-5 41685 0 6.25E-4
1-94510236-C-T p.Glu995Lys missense ABCA4 1 83368 1.1995E-5 41684 0 8.23683E-6
1-94510247-C-A p.Gly991Val missense ABCA4 4 83358 4.79858E-5 41679 0 NA
1-94510248-C-G p.Gly991Arg missense ABCA4 112 83356 0.00134363 41678 0 0.00194367
1-94510253-A-G p.Val989Ala missense ABCA4 33 83366 3.95845E-4 41683 0 7.64575E-4
1-94510254-C-T p.Val989Ile missense ABCA4 1 83366 1.19953E-5 41683 0 5.03525E-4
1-94510255-G-A p.Leu988Leu synonymous ABCA4 564 83358 0.006766 41679 14 0.0129357
1-94510261-A-C p.Thr986Thr synonymous ABCA4 1 83368 1.1995E-5 41684 0 NA
1-94510262-G-A p.Thr986Ile missense ABCA4 1 83366 1.19953E-5 41683 0 NA
1-94510272-T-C p.Thr983Ala missense ABCA4 1 83350 1.19976E-5 41675 0 3.97627E-6
1-94510273-T-A p.Pro982Pro synonymous ABCA4 1 83350 1.19976E-5 41675 0 NA
1-94510288-C-T p.Thr977Thr synonymous ABCA4 5 83350 5.9988E-5 41675 0 6.58946E-5
1-94510288-C-G p.Thr977Thr synonymous ABCA4 1 83350 1.19976E-5 41675 0 3.97633E-6
1-94510289-G-A p.Thr977Met missense ABCA4 17 83344 2.03974E-4 41672 0 2.54826E-4
1-94510294-G-C p.Ile975Met missense ABCA4 2 83342 2.39975E-5 41671 0 1.64737E-5
1-94511297-A-G p.Val974Ala missense ABCA4 1 9570 1.04493E-4 4785 0 3.18593E-5
1-94511316-C-G p.Val968Leu missense ABCA4 1 9572 1.04471E-4 4786 0 3.18593E-5
1-94511335-A-T p.Asp961Glu missense ABCA4 99 9570 0.0103448 4785 3 0.0228412
1-94511408-G-A p.Ala937Val missense ABCA4 1 9570 1.04493E-4 4785 0 NA
1-94511415-C-A p.Gly935Trp missense ABCA4 2 9570 2.08986E-4 4785 0 5.57103E-4
1-94511435-T-C p.Gln928Arg missense ABCA4 2 9572 2.08943E-4 4786 0 0.00120713
1-94511490-G-C p.Pro910Ala missense ABCA4 2 9564 2.09118E-4 4782 0 NA
1-94511496-T-C p.Lys908Glu missense ABCA4 1 9564 1.04559E-4 4782 0 4.1462E-4
1-94511511-C-T p.Ala903Thr missense ABCA4 2 9544 2.09556E-4 4772 0 7.79375E-6
1-94511513-C-T p.Gly902Asp missense ABCA4 1 9544 1.04778E-4 4772 0 2.33809E-5
1-94512470-C-T c.2918+5G>A splice_region ABCA4 1 82688 1.20937E-5 41344 0 NA
1-94512478-G-A p.Thr972Ile missense ABCA4 1 82854 1.20694E-5 41427 0 3.1841E-5
1-94512478-G-T p.Thr972Asn missense ABCA4 1 82854 1.20694E-5 41427 0 5.77044E-5
1-94512484-G-C p.Thr970Ser missense ABCA4 1 82924 1.20592E-5 41462 0 NA
1-94512496-C-T p.Gly966Glu missense ABCA4 1 82962 1.20537E-5 41481 0 NA
1-94512499-T-C p.Asn965Ser missense ABCA4 4 83016 4.81835E-5 41508 0 1.73122E-4
1-94512509-G-A p.Leu962Leu synonymous ABCA4 3 83068 3.6115E-5 41534 0 1.63124E-4
1-94512514-G-A p.Ala960Val missense ABCA4 1 83102 1.20334E-5 41551 0 8.2462E-6
1-94512515-C-A p.Ala960Ser missense ABCA4 1 83100 1.20337E-5 41550 0 3.97886E-6
1-94512516-G-A p.Thr959Thr synonymous ABCA4 22 83102 2.64735E-4 41551 0 6.18496E-4
1-94512518-T-A p.Thr959Ser missense ABCA4 7 83114 8.42217E-5 41557 0 7.1611E-5
1-94512518-T-C p.Thr959Ala missense ABCA4 4 83114 4.81267E-5 41557 0 1.59357E-4
1-94512529-T-C p.Glu955Gly missense ABCA4 2 83180 2.40442E-5 41590 0 NA
1-94512530-C-T p.Glu955Lys missense ABCA4 3 83188 3.60629E-5 41594 0 4.12405E-5
1-94512532-T-G p.Tyr954Ser missense ABCA4 2 83202 2.40379E-5 41601 0 NA
1-94512533-A-C p.Tyr954Asp missense ABCA4 1 83194 1.20201E-5 41597 0 NA
1-94512550-C-T p.Arg948His missense ABCA4 2 83254 2.40229E-5 41627 0 4.12419E-5
1-94512551-G-A p.Arg948Cys missense ABCA4 4 83260 4.80423E-5 41630 0 3.18593E-5
1-94512552-G-A p.Asp947Asp synonymous ABCA4 3 83270 3.60274E-5 41635 0 1.07243E-4
1-94512559-G-A p.Ala945Val missense ABCA4 1 83292 1.2006E-5 41646 0 NA
1-94512563-G-T p.Pro944Thr missense ABCA4 1 83290 1.20062E-5 41645 0 NA
1-94512565-C-T p.Arg943Gln missense ABCA4 2608 83238 0.0313318 41619 53 0.0307106
1-94512565-C-A p.Arg943Leu missense ABCA4 18 83286 2.16123E-4 41643 0 2.7843E-5
1-94512566-G-A p.Arg943Trp missense ABCA4 4 83286 4.80273E-5 41643 0 7.95488E-5
1-94512567-G-T p.Gly942Gly synonymous ABCA4 1 83282 1.20074E-5 41641 0 3.9776E-6
1-94512571-C-T p.Cys941Tyr missense ABCA4 3 83298 3.60153E-5 41649 0 9.55779E-5
1-94512574-G-C p.Pro940Arg missense ABCA4 22 83288 2.64144E-4 41644 0 4.46229E-4
1-94512575-G-A p.Pro940Ser missense ABCA4 2 83292 2.40119E-5 41646 0 0.00125
1-94512580-A-G p.Phe938Ser missense ABCA4 3 83294 3.6017E-5 41647 0 1.59256E-4
1-94512589-A-G p.Val935Ala missense ABCA4 4 83312 4.80123E-5 41656 0 8.26228E-6
1-94512602-C-T p.Val931Met missense ABCA4 66 83300 7.92317E-4 41650 0 0.00117864
1-94512602-C-A p.Val931Leu missense ABCA4 1 83300 1.20048E-5 41650 0 NA
1-94512615-A-G p.Val926Val synonymous ABCA4 1 83274 1.20085E-5 41637 0 3.18492E-5
1-94512624-T-C p.Pro923Pro synonymous ABCA4 7 83234 8.41002E-5 41617 0 9.55536E-5
1-94512634-C-T p.Arg920His missense ABCA4 1 83166 1.20241E-5 41583 0 4.152E-5
1-94512634-C-A p.Arg920Leu missense ABCA4 1 83166 1.20241E-5 41583 0 8.30399E-6
1-94512635-G-A p.Arg920Cys missense ABCA4 2 83154 2.40518E-5 41577 0 4.15386E-5
1-94512644-A-G p.Phe917Leu missense ABCA4 1 83090 1.20351E-5 41545 0 NA
1-94512654-G-A c.2744-5C>T splice_region ABCA4 7 82888 8.44513E-5 41444 0 6.50369E-4
1-94514446-T-C p.Pro907Pro synonymous ABCA4 1 83354 1.1997E-5 41677 0 3.97646E-6
1-94514451-C-T p.Asp906Asn missense ABCA4 1 83358 1.19964E-5 41679 0 NA
1-94514454-C-T p.Glu905Lys missense ABCA4 1 83356 1.19967E-5 41678 0 8.24429E-6
1-94514455-C-T p.Thr904Thr synonymous ABCA4 5 83360 5.99808E-5 41680 0 3.18114E-5
1-94514456-G-A p.Thr904Met missense ABCA4 7 83354 8.39792E-5 41677 0 5.77101E-5
1-94514462-T-C p.Glu902Gly missense ABCA4 1 83346 1.19982E-5 41673 0 NA
1-94514464-T-C p.Thr901Thr synonymous ABCA4 1 83350 1.19976E-5 41675 0 3.5789E-5
1-94514466-T-C p.Thr901Ala missense ABCA4 164 83340 0.00196784 41670 0 0.00194853
1-94514475-C-T p.Glu898Lys missense ABCA4 7 83328 8.40054E-5 41664 0 1.03398E-4
1-94514475-C-G p.Glu898Gln missense ABCA4 1 83328 1.20008E-5 41664 0 NA
1-94514476-G-C p.Thr897Thr synonymous ABCA4 1 83320 1.20019E-5 41660 0 1.19309E-5
1-94514477-G-A p.Thr897Ile missense ABCA4 150 83314 0.00180042 41657 0 0.00302115
1-94514494-T-A p.Glu891Asp missense ABCA4 3 83304 3.60127E-5 41652 0 1.27413E-4
1-94514506-T-C p.Ser887Ser synonymous ABCA4 1 83276 1.20083E-5 41638 0 NA
1-94514512-C-T p.Gly885Gly splice_region+synonymous ABCA4 1 83266 1.20097E-5 41633 0 7.95691E-6
1-94514513-C-T p.Gly885Glu missense+splice_region ABCA4 1 83268 1.20094E-5 41634 0 NA
1-94517187-A-G c.2653+2T>C splice_donor ABCA4 1 83236 1.2014E-5 41618 0 8.30813E-6
1-94517196-G-A p.Gly882Gly synonymous ABCA4 4 83258 4.80434E-5 41629 0 2.73441E-4
1-94517208-C-T p.Ser878Ser synonymous ABCA4 2 83282 2.40148E-5 41641 0 3.1837E-5
1-94517225-A-G p.Phe873Leu missense ABCA4 1 83270 1.20091E-5 41635 0 1.19312E-5
1-94517254-C-G p.Gly863Ala missense+splice_region ABCA4 336 83178 0.00403953 41589 0 0.00507241
1-94520661-G-A c.2587+6C>T splice_region ABCA4 1 83328 1.20008E-5 41664 0 NA
1-94520665-A-G c.2587+2T>C splice_donor ABCA4 1 83334 1.19999E-5 41667 0 NA
1-94520668-T-C p.Pro862Pro splice_region+synonymous ABCA4 1 83338 1.19993E-5 41669 0 8.25859E-6
1-94520671-A-G p.Phe861Phe synonymous ABCA4 3 83350 3.59928E-5 41675 0 NA
1-94520676-C-A p.Val860Leu missense ABCA4 1 83336 1.19996E-5 41668 0 NA
1-94520678-T-C p.Gln859Arg missense ABCA4 6 83328 7.20046E-5 41664 0 8.75148E-5
1-94520679-G-C p.Gln859Glu missense ABCA4 1 83330 1.20005E-5 41665 0 NA
1-94520688-A-G p.Tyr856His missense ABCA4 1 83338 1.19993E-5 41669 0 NA
1-94520690-C-T p.Trp855* stop_gained ABCA4 4 83340 4.79962E-5 41670 0 3.29647E-5
1-94520694-C-T p.Ala854Thr missense ABCA4 2 83328 2.40015E-5 41664 0 7.95513E-6
1-94520694-C-A p.Ala854Ser missense ABCA4 3 83328 3.60023E-5 41664 0 NA
1-94520695-G-A p.Leu853Leu synonymous ABCA4 5 83330 6.00024E-5 41665 0 1.19324E-5
1-94520705-T-C p.Tyr850Cys missense ABCA4 1 83294 1.20057E-5 41647 0 NA
1-94520708-A-G p.Val849Ala missense ABCA4 144 83286 0.00172898 41643 1 0.00503525
1-94520711-G-C p.Ala848Gly missense ABCA4 1 83286 1.20068E-5 41643 0 5.03525E-4
1-94520722-G-A p.Leu844Leu synonymous ABCA4 1 83256 1.20111E-5 41628 0 NA
1-94520737-G-A p.Ser839Ser synonymous ABCA4 2 83200 2.40385E-5 41600 0 9.56023E-5
1-94520740-C-T p.Leu838Leu synonymous ABCA4 5 83172 6.01164E-5 41586 0 8.23818E-6
1-94520758-G-A p.Asp832Asp synonymous ABCA4 17 83060 2.04671E-4 41530 0 9.56328E-5
1-94520767-C-T p.Thr829Thr synonymous ABCA4 2 83000 2.40964E-5 41500 0 6.37227E-5
1-94520768-G-A p.Thr829Met missense ABCA4 32 82994 3.8557E-4 41497 0 0.00302115
1-94520774-C-G p.Ser827Thr missense ABCA4 1 82954 1.20549E-5 41477 0 1.19418E-5
1-94520781-C-T p.Gly825Arg missense ABCA4 6 82902 7.23746E-5 41451 0 1.59307E-4
1-94520782-G-A p.Ile824Ile synonymous ABCA4 3 82902 3.61873E-5 41451 0 4.37933E-5
1-94520785-G-A p.Asn823Asn synonymous ABCA4 1 82898 1.2063E-5 41449 0 7.96286E-6
1-94520793-A-T p.Trp821Arg missense ABCA4 3 82832 3.62179E-5 41416 0 3.18634E-5
1-94520795-T-G p.Gln820Pro missense ABCA4 1 82822 1.20741E-5 41411 0 NA
1-94520801-C-T p.Gly818Glu missense ABCA4 1 82790 1.20788E-5 41395 0 2.07072E-4
1-94520808-C-T p.Gly816Ser missense ABCA4 2 82740 2.41721E-5 41370 0 NA
1-94520822-C-A