Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-28000537-A-G p.Asn814Asn synonymous OCA2 1 80854 1.2368E-5 40427 0 3.18532E-5
15-28000547-A-G p.Val811Ala missense OCA2 1 80844 1.23695E-5 40422 0 NA
15-28000549-C-A p.Val810Val synonymous OCA2 6 80854 7.42078E-5 40427 0 1.27445E-4
15-28000550-A-T p.Val810Glu missense OCA2 1 80854 1.2368E-5 40427 0 3.18512E-5
15-28000551-C-T p.Val810Met missense OCA2 150 80864 0.00185497 40432 0 0.00391845
15-28000554-C-T p.Val809Met missense OCA2 18 80870 2.22579E-4 40435 0 1.39349E-4
15-28000556-T-C p.His808Arg missense OCA2 2 80858 2.47347E-5 40429 0 8.2447E-6
15-28000557-G-A p.His808Tyr missense OCA2 1 80854 1.2368E-5 40427 0 NA
15-28000569-G-A p.Leu804Phe missense OCA2 1 80870 1.23655E-5 40435 0 3.98397E-6
15-28000572-A-T p.Tyr803Asn missense OCA2 2 80860 2.47341E-5 40430 0 NA
15-28000574-C-T p.Cys802Tyr missense OCA2 2 80868 2.47317E-5 40434 0 NA
15-28000605-T-C p.Met792Val missense OCA2 4 80820 4.94927E-5 40410 0 3.30355E-5
15-28000618-C-A p.Arg787Ser missense+splice_region OCA2 2 80794 2.47543E-5 40397 0 8.28981E-6
15-28090107-G-GAA p.Arg787fs frameshift OCA2 1 80990 1.23472E-5 40495 0 NA
15-28090112-A-T p.Phe785Ile missense OCA2 4 80988 4.939E-5 40494 0 1.27372E-4
15-28090113-T-C p.Glu784Glu synonymous OCA2 1 80994 1.23466E-5 40497 0 6.36943E-5
15-28090125-G-C p.Phe780Leu missense OCA2 4 81034 4.9362E-5 40517 0 0.001875
15-28090132-T-C p.Tyr778Cys missense OCA2 1 81044 1.2339E-5 40522 0 NA
15-28090143-T-G p.Glu774Asp missense OCA2 1 81052 1.23378E-5 40526 0 NA
15-28090157-C-A p.Ala770Ser missense OCA2 1 81054 1.23375E-5 40527 0 3.18451E-5
15-28090159-C-T p.Cys769Tyr missense OCA2 3 81058 3.70105E-5 40529 0 NA
15-28090164-G-C p.Val767Val synonymous OCA2 1 81048 1.23384E-5 40524 0 1.64905E-5
15-28090167-G-A p.Asn766Asn synonymous OCA2 3 81042 3.70178E-5 40521 0 6.3743E-5
15-28090173-C-T p.Ser764Ser synonymous OCA2 18209 80820 0.225303 40410 2320 0.334375
15-28090178-C-T p.Ala763Thr missense OCA2 3 81016 3.70297E-5 40508 0 8.25927E-5
15-28090194-G-A p.Asn757Asn synonymous OCA2 1 80992 1.23469E-5 40496 0 3.18715E-5
15-28090198-C-T p.Gly756Asp missense+splice_region OCA2 8 80996 9.87703E-5 40498 0 1.91156E-4
15-28090199-C-A c.2267-1G>T splice_acceptor OCA2 1 80990 1.23472E-5 40495 0 NA
15-28096529-TC-T p.Gly755fs frameshift OCA2 1 79752 1.25389E-5 39876 0 3.18735E-5
15-28096531-C-T p.Gly755Arg missense OCA2 1 79802 1.2531E-5 39901 0 NA
15-28096536-C-T p.Cys753Tyr missense OCA2 2 79828 2.50539E-5 39914 0 4.46413E-5
15-28096538-A-G p.Ala752Ala synonymous OCA2 37339 79332 0.470668 39666 8891 0.522177
15-28096544-G-A p.Phe750Phe synonymous OCA2 2 79870 2.50407E-5 39935 0 0.00100806
15-28096565-C-T p.Pro743Pro synonymous OCA2 1 79944 1.25088E-5 39972 0 3.18552E-5
15-28096568-C-T p.Pro742Pro synonymous OCA2 1 79956 1.25069E-5 39978 0 3.18431E-5
15-28096569-G-A p.Pro742Leu missense OCA2 7 79950 8.75547E-5 39975 0 7.01275E-5
15-28096570-G-T p.Pro742Thr missense OCA2 11 79948 1.37589E-4 39974 0 1.59205E-4
15-28096570-G-C p.Pro742Ala missense OCA2 2 79948 2.50163E-5 39974 0 2.00844E-5
15-28096573-C-T p.Ala741Thr missense OCA2 194 79852 0.00242949 39926 0 0.00503525
15-28096574-G-A p.Pro740Pro synonymous OCA2 2 79866 2.50419E-5 39933 0 2.63755E-5
15-28096579-G-T p.Leu739Met missense OCA2 11 79868 1.37727E-4 39934 0 1.59215E-4
15-28096579-G-A p.Leu739Leu synonymous OCA2 1 79868 1.25207E-5 39934 0 0.00125
15-28096588-C-G p.Glu736Gln missense OCA2 2 79826 2.50545E-5 39913 0 NA
15-28096591-G-A p.Pro735Ser missense OCA2 1 79814 1.25291E-5 39907 0 1.80721E-5
15-28096593-T-A p.Asp734Val missense OCA2 2 79754 2.50771E-5 39877 0 2.72292E-5
15-28096595-G-A p.His733His synonymous OCA2 2 79774 2.50708E-5 39887 0 9.55536E-5
15-28096595-G-C p.His733Gln missense OCA2 1 79774 1.25354E-5 39887 0 8.05782E-6
15-28096598-G-C p.Ser732Arg missense OCA2 2 79790 2.50658E-5 39895 0 NA
15-28096610-G-A p.Leu728Leu synonymous OCA2 1 79772 1.25357E-5 39886 0 NA
15-28096615-C-T p.Val727Met missense OCA2 3 79680 3.76506E-5 39840 1 1.96572E-5
15-28096615-C-A p.Val727Leu missense OCA2 1 79680 1.25502E-5 39840 0 4.05591E-6
15-28096616-G-A p.Pro726Pro synonymous OCA2 1 79716 1.25445E-5 39858 0 2.98638E-5
15-28096617-G-T p.Pro726His missense OCA2 1 79714 1.25448E-5 39857 0 4.06921E-6
15-28096622-C-T c.2173-1G>A splice_acceptor OCA2 1 79676 1.25508E-5 39838 0 NA
15-28096627-G-T c.2173-6C>A splice_region OCA2 12 79680 1.50602E-4 39840 0 1.0676E-4
15-28096629-G-A c.2173-8C>T splice_region OCA2 3 79678 3.76515E-5 39839 0 NA
15-28116301-A-G p.Met724Thr missense+splice_region OCA2 2 79900 2.50313E-5 39950 0 NA
15-28116315-C-G p.Pro719Pro synonymous OCA2 1 80136 1.24788E-5 40068 0 1.65036E-5
15-28116315-C-T p.Pro719Pro synonymous OCA2 3 80136 3.74364E-5 40068 0 4.37626E-5
15-28116316-G-A p.Pro719Leu missense OCA2 12 80160 1.49701E-4 40080 0 3.18634E-4
15-28116323-T-A p.Asn717Tyr missense OCA2 1 80206 1.24679E-5 40103 0 NA
15-28116326-C-CA p.Asp716fs frameshift OCA2 1 80214 1.24667E-5 40107 0 NA
15-28116328-A-G p.Ile715Thr missense OCA2 1 80214 1.24667E-5 40107 0 NA
15-28116336-C-T p.Ser712Ser synonymous OCA2 794 80162 0.00990494 40081 14 0.0159232
15-28116336-C-A p.Ser712Ser synonymous OCA2 115 80210 0.00143374 40105 0 0.00331865
15-28116337-G-A p.Ser712Leu missense OCA2 4 80220 4.98629E-5 40110 0 2.38686E-5
15-28116339-C-T p.Ala711Ala synonymous OCA2 3 80202 3.74056E-5 40101 0 1.23766E-4
15-28116362-CCAGGA-C p.Val702fs frameshift OCA2 1 80156 1.24757E-5 40078 0 6.37511E-5
15-28116375-G-A p.Ala699Ala synonymous OCA2 8 79904 1.0012E-4 39952 0 9.95374E-5
15-28116379-A-G p.Ile698Thr missense OCA2 758 79624 0.00951974 39812 13 0.0161453
15-28116384-G-A p.Arg696Arg synonymous OCA2 6 79454 7.55154E-5 39727 0 3.58503E-5
15-28116385-C-T p.Arg696His missense OCA2 1 79396 1.25951E-5 39698 0 1.99216E-5
15-28116386-G-A p.Arg696Cys missense OCA2 1 79354 1.26018E-5 39677 0 2.7892E-5
15-28116390-C-T p.Glu694Glu synonymous OCA2 1 79186 1.26285E-5 39593 0 8.32002E-6
15-28116399-G-C p.Val691Val synonymous OCA2 2 78862 2.53608E-5 39431 0 3.98794E-6
15-28117003-T-C c.2067+6A>G splice_region OCA2 1 80356 1.24446E-5 40178 0 NA
15-28117025-G-T p.Thr684Asn missense OCA2 1 80616 1.24045E-5 40308 0 NA
15-28117038-C-A p.Val680Phe missense OCA2 1 80648 1.23996E-5 40324 0 3.19224E-5
15-28117042-T-C p.Glu678Glu synonymous OCA2 1 80650 1.23993E-5 40325 0 NA
15-28117042-T-G p.Glu678Asp missense OCA2 2 80650 2.47985E-5 40325 0 NA
15-28117054-G-A p.Leu674Leu synonymous OCA2 1 80638 1.24011E-5 40319 0 7.95976E-6
15-28117056-G-A p.Leu674Phe missense OCA2 2 80630 2.48047E-5 40315 0 NA
15-28117060-T-C p.Ala672Ala synonymous OCA2 6 80602 7.44398E-5 40301 0 6.37471E-5
15-28117065-A-C p.Leu671Val missense OCA2 1 80546 1.24153E-5 40273 0 NA
15-28117068-C-T p.Ala670Thr missense+splice_region OCA2 5 80504 6.21087E-5 40252 0 6.3804E-5
15-28117072-G-C c.2008-4C>G splice_region OCA2 3 80468 3.72819E-5 40234 0 NA
15-28171273-C-T p.Glu669Glu splice_region+synonymous OCA2 1 80680 1.23946E-5 40340 0 NA
15-28171279-C-G p.Leu667Leu synonymous OCA2 1 80728 1.23873E-5 40364 0 NA
15-28171279-C-T p.Leu667Leu synonymous OCA2 1 80728 1.23873E-5 40364 0 8.26897E-6
15-28171291-C-T p.Ala663Ala synonymous OCA2 8 80770 9.90467E-5 40385 0 2.55787E-4
15-28171292-G-A p.Ala663Val missense OCA2 1 80778 1.23796E-5 40389 0 5.17582E-5
15-28171294-T-G p.Ala662Ala synonymous OCA2 2077 80770 0.025715 40385 136 0.0547569
15-28171296-C-CA p.Ala662fs frameshift OCA2 1 80784 1.23787E-5 40392 0 8.25873E-6
15-28171309-G-C p.Thr657Thr synonymous OCA2 6 80812 7.42464E-5 40406 0 1.27453E-4
15-28171310-G-C p.Thr657Ser missense OCA2 1 80812 1.23744E-5 40406 0 NA
15-28171315-C-G p.Trp655Cys missense OCA2 5 80812 6.1872E-5 40406 0 1.4852E-4
15-28171332-G-C p.Leu650Val missense OCA2 5 80836 6.18536E-5 40418 0 3.22347E-4
15-28171340-T-C p.Glu647Gly missense OCA2 1 80834 1.2371E-5 40417 0 3.97928E-6
15-28171373-CA-C p.Trp636fs frameshift OCA2 2 80806 2.47506E-5 40403 0 NA
15-28171398-A-T p.Trp628Arg missense+splice_region OCA2 2 80738 2.47715E-5 40369 0 3.98029E-6
15-28195659-C-T p.Ser668Asn missense OCA2 1 52980 1.8875E-5 26490 0 NA
15-28195664-A-G p.Pro666Pro synonymous OCA2 4 52988 7.54888E-5 26494 0 9.55171E-5
15-28195668-G-A p.Thr665Ile missense OCA2 1 52980 1.8875E-5 26490 0 9.2742E-6
15-28195680-T-C p.Tyr661Cys missense OCA2 1 52996 1.88693E-5 26498 0 2.80599E-5
15-28195682-C-A p.Arg660Ser missense OCA2 1 52994 1.88701E-5 26497 0 1.59246E-4
15-28195685-G-A p.Gly659Gly synonymous OCA2 4 52986 7.54916E-5 26493 0 2.82199E-5
15-28195697-C-T p.Leu655Leu synonymous OCA2 2 52990 3.7743E-5 26495 0 NA
15-28195709-A-G p.Gly651Gly splice_region+synonymous OCA2 8 52956 1.51069E-4 26478 0 0.00125
15-28196927-C-T c.1879+3G>A splice_region OCA2 1 80884 1.23634E-5 40442 0 3.49614E-5
15-28196933-G-A p.Leu626Phe missense OCA2 2 80930 2.47127E-5 40465 0 1.59284E-5
15-28196945-T-C p.Ile622Val missense OCA2 1 80952 1.2353E-5 40476 0 3.9795E-6
15-28196946-G-C p.Gly621Gly synonymous OCA2 1 80952 1.2353E-5 40476 0 NA
15-28196954-C-T p.Val619Ile missense OCA2 1 80980 1.23487E-5 40490 0 NA
15-28196958-C-T p.Ser617Ser synonymous OCA2 1 80978 1.2349E-5 40489 0 2.38667E-5
15-28196959-G-A p.Ser617Leu missense OCA2 1 80988 1.23475E-5 40494 0 3.97814E-6
15-28196963-T-G p.Asn616His missense OCA2 2 80990 2.46944E-5 40495 0 NA
15-28196964-G-C p.Leu615Leu synonymous OCA2 4 80998 4.93839E-5 40499 0 8.38378E-6
15-28196965-A-C p.Leu615Arg missense OCA2 1 80998 1.2346E-5 40499 0 NA
15-28196975-T-C p.Met612Val missense OCA2 3 81008 3.70334E-5 40504 0 9.56511E-5
15-28196980-A-T p.Ile610Asn missense OCA2 3 81014 3.70306E-5 40507 0 2.22916E-4
15-28196984-C-T p.Val609Ile missense OCA2 1 81018 1.23429E-5 40509 0 3.9775E-6
15-28196994-C-A p.Val605Val synonymous OCA2 384 81000 0.00474074 40500 8 0.0096503
15-28197000-C-T p.Leu603Leu synonymous OCA2 4 81014 4.93742E-5 40507 0 3.33907E-5
15-28197010-G-A p.Ala600Val missense OCA2 1 81006 1.23448E-5 40503 0 3.9775E-6
15-28197011-C-T p.Ala600Thr missense OCA2 2 81004 2.46901E-5 40502 0 0.00100705
15-28197012-G-A p.Leu599Leu synonymous OCA2 3 81004 3.70352E-5 40502 0 3.18431E-5
15-28197013-A-G p.Leu599Pro missense OCA2 2 80996 2.46926E-5 40498 0 3.18431E-5
15-28197017-G-A p.Leu598Leu synonymous OCA2 4 80988 4.939E-5 40494 0 6.72066E-5
15-28197023-C-T p.Gly596Arg missense OCA2 1 80972 1.23499E-5 40486 0 6.25E-4
15-28197024-G-A p.Asp595Asp synonymous OCA2 45 80966 5.55789E-4 40483 0 9.87135E-4
15-28197031-A-G p.Ile593Thr missense OCA2 7 80942 8.64817E-5 40471 0 0.001875
15-28197032-T-C p.Ile593Val missense OCA2 2 80934 2.47115E-5 40467 0 NA
15-28197033-C-A p.Arg592Ser missense OCA2 2 80936 2.47109E-5 40468 0 8.54774E-6
15-28197035-T-C p.Arg592Gly missense OCA2 1 80910 1.23594E-5 40455 0 1.71427E-5
15-28197037-T-C p.His591Arg missense+splice_region OCA2 910 80890 0.0112498 40445 211 0.0452997
15-28197037-T-A p.His591Leu missense+splice_region OCA2 1 80908 1.23597E-5 40454 0 8.60067E-6
15-28197038-G-A p.His591Tyr missense+splice_region OCA2 4 80898 4.9445E-5 40449 0 3.45453E-5
15-28200299-G-C c.1770+5C>G splice_region OCA2 1 80870 1.23655E-5 40435 0 3.97633E-6
15-28200303-C-A c.1770+1G>T splice_donor OCA2 1 80864 1.23664E-5 40432 0 3.18431E-5
15-28200308-T-C p.Lys589Arg missense OCA2 1 80880 1.2364E-5 40440 0 4.11821E-5
15-28200337-AT-A p.Asn579fs frameshift OCA2 1 80878 1.23643E-5 40439 0 7.95292E-6
15-28200368-G-C c.1713-7C>G splice_region OCA2 4 80780 4.95172E-5 40390 0 5.76616E-5
15-28200368-G-A c.1713-7C>T splice_region OCA2 1 80780 1.23793E-5 40390 0 8.23737E-6
15-28200368-GAGAAA-G c.1713-12_1713-8delTTTCT splice_region OCA2 1 80780 1.23793E-5 40390 0 NA
15-28202728-C-T c.1712+6G>A splice_region OCA2 2 78538 2.54654E-5 39269 0 2.61019E-5
15-28202733-C-T c.1712+1G>A splice_donor OCA2 1 78678 1.271E-5 39339 0 NA
15-28202739-G-T p.Phe569Leu missense OCA2 1 78756 1.26974E-5 39378 0 NA
15-28202740-A-G p.Phe569Ser missense OCA2 2 78756 2.53949E-5 39378 0 NA
15-28202742-G-A p.Thr568Thr synonymous OCA2 2 78792 2.53833E-5 39396 0 NA
15-28202750-G-A p.Leu566Leu synonymous OCA2 1 78742 1.26997E-5 39371 0 8.7105E-6
15-28202753-T-A p.Arg565Trp missense OCA2 1 78750 1.26984E-5 39375 0 4.09547E-6
15-28202755-C-T p.Arg564Gln missense OCA2 1 78814 1.26881E-5 39407 0 2.61197E-5
15-28202756-G-A p.Arg564Trp missense OCA2 57 78818 7.23185E-4 39409 0 0.00877193
15-28202759-C-T p.Ala563Thr missense OCA2 2 78786 2.53852E-5 39393 0 6.09363E-5
15-28202760-G-A p.Leu562Leu synonymous OCA2 3 78890 3.80276E-5 39445 0 5.04032E-4
15-28202762-G-A p.Leu562Phe missense OCA2 1 78952 1.26659E-5 39476 0 NA
15-28202766-G-A p.His560His synonymous OCA2 595 79016 0.00753012 39508 7 0.0121528
15-28202770-TC-T p.Glu559fs frameshift OCA2 1 79096 1.26429E-5 39548 0 NA
15-28202774-G-A p.Leu558Leu synonymous OCA2 114 79158 0.00144016 39579 0 0.0024516
15-28202780-G-C p.Leu556Val missense OCA2 1 79330 1.26056E-5 39665 0 4.07193E-6
15-28202801-G-A p.Arg549Cys missense OCA2 5 79604 6.28109E-5 39802 0 1.59317E-4
15-28202804-G-A p.Arg548Cys missense OCA2 5 79598 6.28156E-5 39799 0 6.94481E-5
15-28202817-C-G p.Glu543Asp missense OCA2 1 79764 1.2537E-5 39882 0 4.0591E-6
15-28202819-C-T p.Glu543Lys missense OCA2 1 79742 1.25404E-5 39871 0 1.73662E-5
15-28202820-G-A p.Arg542Arg synonymous OCA2 1 79742 1.25404E-5 39871 0 3.18552E-5
15-28202822-G-A p.Arg542Cys missense OCA2 2 79794 2.50645E-5 39897 0 6.37105E-5
15-28202829-C-T p.Pro539Pro synonymous OCA2 1 79804 1.25307E-5 39902 0 8.67333E-6
15-28202830-G-A p.Pro539Leu missense OCA2 7 79808 8.77105E-5 39904 0 3.5043E-4
15-28202830-G-T p.Pro539Gln missense OCA2 1 79808 1.25301E-5 39904 0 NA
15-28202833-CTGA-C p.Ile537del disruptive_inframe_deletion OCA2 1 79786 1.25335E-5 39893 0 NA
15-28202839-C-T p.Arg536His missense OCA2 103 79824 0.00129034 39912 0 0.00395081
15-28202840-G-A p.Arg536Cys missense OCA2 3 79832 3.75789E-5 39916 0 1.27421E-4
15-28202855-G-A p.Arg531Cys missense OCA2 4 79858 5.00889E-5 39929 0 2.86734E-4
15-28202862-G-A p.His528His synonymous OCA2 5 79896 6.25814E-5 39948 0 6.37146E-5
15-28202871-G-A p.His525His synonymous OCA2 2 79888 2.5035E-5 39944 0 3.18552E-5
15-28202874-C-T p.Lys524Lys synonymous OCA2 6 79848 7.51428E-5 39924 0 8.64828E-6
15-28202880-T-C p.Glu522Glu splice_region+synonymous OCA2 1 79818 1.25285E-5 39909 0 3.18756E-5
15-28202884-G-A c.1565-3C>T splice_region OCA2 1 79772 1.25357E-5 39886 0 8.66446E-6
15-28211841-A-G p.Ile520Thr missense OCA2 25 81010 3.08604E-4 40505 0 5.03525E-4
15-28211842-T-C p.Ile520Val missense OCA2 1 81010 1.23442E-5 40505 0 3.9764E-6
15-28211847-C-G p.Ser518Thr missense OCA2 1 81022 1.23423E-5 40511 0 8.2375E-6
15-28211850-G-A p.Pro517Leu missense OCA2 1 81026 1.23417E-5 40513 0 NA
15-28211880-T-C p.Tyr507Cys missense OCA2 7 81016 8.64027E-5 40508 0 5.96464E-5
15-28211897-C-T p.Pro501Pro synonymous OCA2 2 81000 2.46914E-5 40500 0 6.36983E-5
15-28211898-G-A p.Pro501Leu missense OCA2 4 80996 4.93852E-5 40498 0 6.3678E-5
15-28211912-G-T p.Leu496Leu synonymous OCA2 48 80992 5.92651E-4 40496 0 0.00257929
15-28211916-A-G p.Val495Ala missense OCA2 4 80992 4.93876E-5 40496 0 1.32339E-4
15-28211921-G-A p.Cys493Cys synonymous OCA2 46895 79860 0.587215 39930 14633 0.564063
15-28211936-C-T p.Met488Ile missense OCA2 1 80944 1.23542E-5 40472 0 8.74783E-6
15-28211939-G-A p.His487His synonymous OCA2 1 80930 1.23564E-5 40465 0 NA
15-28211943-G-T p.Ala486Glu missense OCA2 1 80914 1.23588E-5 40457 0 NA
15-28211944-C-T p.Ala486Thr missense OCA2 5 80898 6.18062E-5 40449 0 5.03525E-4
15-28211945-A-G p.Thr485Thr synonymous OCA2 8 80886 9.89046E-5 40443 0 5.03525E-4
15-28211951-T-C p.Gly483Gly synonymous OCA2 1 80776 1.23799E-5 40388 0 3.18715E-5
15-28211953-C-T p.Gly483Arg missense OCA2 9 80742 1.11466E-4 40371 0 1.91241E-4
15-28211959-A-C p.Phe481Val missense OCA2 1 80660 1.23977E-5 40330 0 4.08088E-5
15-28211967-C-T p.Gly478Asp missense+splice_region OCA2 1 80394 1.24387E-5 40197 0 NA
15-28211970-T-C c.1432-2A>G splice_acceptor OCA2 1 80316 1.24508E-5 40158 0 1.12816E-5
15-28211971-G-A c.1432-3C>T splice_region OCA2 1 80286 1.24555E-5 40143 0 NA
15-28228484-T-A c.1431+7A>T splice_region OCA2 4 81060 4.93462E-5 40530 0 6.68747E-4
15-28228486-C-T c.1431+5G>A splice_region OCA2 5 81058 6.16842E-5 40529 0 6.3678E-5
15-28228487-G-A c.1431+4C>T splice_region OCA2 7 81062 8.63537E-5 40531 0 1.59215E-4
15-28228510-T-C p.Asn471Ser missense OCA2 1 81064 1.23359E-5 40532 0 NA
15-28228511-T-C p.Asn471Asp missense OCA2 4 81064 4.93437E-5 40532 0 2.3858E-5
15-28228513-G-A p.Ser470Phe missense OCA2 1 81068 1.23353E-5 40534 0 NA
15-28228515-A-C p.Val469Val synonymous OCA2 15 81068 1.8503E-4 40534 0 6.17772E-4
15-28228528-T-A p.Asn465Ile missense OCA2 1 81064 1.23359E-5 40532 0 NA
15-28228529-T-C p.Asn465Asp missense OCA2 36 81068 4.44072E-4 40534 0 3.49906E-4
15-28228529-T-A p.Asn465Tyr missense OCA2 1 81066 1.23356E-5 40533 0 NA
15-28228542-G-A p.Ile460Ile synonymous OCA2 2 81060 2.46731E-5 40530 0 5.03525E-4
15-28228553-C-T p.Ala457Thr missense OCA2 272 81052 0.00335587 40526 5 0.009375
15-28228564-A-G p.Ile453Thr missense OCA2 2 81050 2.46761E-5 40525 0 6.36902E-5
15-28228567-T-C p.Asn452Ser missense OCA2 1 81048 1.23384E-5 40524 0 8.23655E-6
15-28228593-G-T p.Val443Val synonymous OCA2 16 81026 1.97467E-4 40513 0 5.03525E-4
15-28228616-G-A p.Leu436Phe missense OCA2 2 80972 2.46999E-5 40486 0 3.1839E-5
15-28228620-C-T p.Glu434Glu synonymous OCA2 77 80972 9.50946E-4 40486 0 0.0013054
15-28228637-A-T c.1293-8T>A splice_region OCA2 2 80878 2.47286E-5 40439 0 8.23968E-6
15-28230205-C-A c.1292+5G>T splice_region OCA2 1 71610 1.39645E-5 35805 0 NA
15-28230206-G-A c.1292+4C>T splice_region OCA2 29 71756 4.04147E-4 35878 0 2.80402E-4
15-28230209-C-A c.1292+1G>T splice_donor OCA2 2 72228 2.76901E-5 36114 0 8.41737E-6
15-28230210-C-T p.Arg431Lys missense+splice_region OCA2 7 72274 9.68536E-5 36137 0 6.80485E-4
15-28230211-T-C p.Arg431Gly missense+splice_region OCA2 8 72418 1.1047E-4 36209 0 2.64118E-4
15-28230224-C-T p.Thr426Thr synonymous OCA2 1 72580 1.37779E-5 36290 0 3.18756E-5
15-28230225-G-A p.Thr426Met missense OCA2 1 72758 1.37442E-5 36379 0 5.08647E-4
15-28230238-T-C p.Met422Val missense OCA2 28 72678 3.85261E-4 36339 0 4.46372E-4
15-28230245-G-A p.Val419Val synonymous OCA2 1 72346 1.38225E-5 36173 0 NA
15-28230247-C-T p.Val419Ile missense OCA2 268 72016 0.0037214 36008 1 0.00312181
15-28230252-T-C p.Asp417Gly missense OCA2 1 71774 1.39326E-5 35887 0 3.18674E-5
15-28230254-C-G p.Leu416Phe missense OCA2 46 71688 6.41669E-4 35844 0 4.19997E-4
15-28230256-A-C p.Leu416Val missense OCA2 2 71686 2.78995E-5 35843 0 NA
15-28230271-C-T p.Val411Ile missense OCA2 5 69682 7.17545E-5 34841 0 0.00456389
15-28230273-G-A p.Ala410Val missense OCA2 2 69160 2.89184E-5 34580 0 8.38771E-6
15-28230276-G-A p.Ala409Val missense OCA2 1 68490 1.46007E-5 34245 0 2.51661E-5
15-28230277-C-T p.Ala409Thr missense OCA2 6 68192 8.79869E-5 34096 0 7.96584E-4
15-28230301-T-C p.Met401Val missense OCA2 1 63614 1.57198E-5 31807 0 6.36943E-5
15-28230303-G-A p.Ala400Val missense OCA2 1 63022 1.58675E-5 31511 0 NA
15-28230312-C-T p.Arg397Gln missense OCA2 2 60206 3.32193E-5 30103 0 3.18451E-5
15-28230313-G-A p.Arg397Trp missense OCA2 5 59780 8.364E-5 29890 0 0.00101215
15-28230318-C-T p.Arg395Gln missense OCA2 3320 58036 0.0572059 29018 96 0.0469099
15-28230318-C-A p.Arg395Leu missense OCA2 1 58326 1.7145E-5 29163 0 6.43087E-4
15-28230319-G-A p.Arg395Trp missense OCA2 13 58176 2.2346E-4 29088 0 6.36902E-4
15-28230327-C-G p.Arg392Pro missense OCA2 1 55916 1.7884E-5 27958 0 NA
15-28230328-G-A p.Arg392Trp missense OCA2 2 55872 3.57961E-5 27936 0 2.43661E-5
15-28231728-C-G c.1167+5G>C splice_region OCA2 11 80592 1.3649E-4 40296 0 8.24498E-6
15-28231746-T-C p.Tyr385Cys missense OCA2 3 80642 3.72015E-5 40321 0 3.57918E-5
15-28231751-G-A p.Phe383Phe synonymous OCA2 10 80636 1.24014E-4 40318 0 5.03525E-4
15-28231760-C-T p.Thr380Thr synonymous OCA2 2 80622 2.48071E-5 40311 0 3.18492E-5
15-28231761-G-A p.Thr380Met missense OCA2 5 80626 6.20147E-5 40313 0 1.91144E-4
15-28231764-T-C p.Glu379Gly missense OCA2 2 80650 2.47985E-5 40325 0 9.06454E-5
15-28231771-A-G p.Phe377Leu missense OCA2 5 80622 6.20178E-5 40311 0 2.47264E-5
15-28231780-C-A p.Val374Leu missense OCA2 1 80362 1.24437E-5 40181 0 0.0166735
15-28231780-C-T p.Val374Ile missense OCA2 1 80558 1.24134E-5 40279 0 8.10392E-6
15-28231781-T-A p.Leu373Phe missense OCA2 2 80472 2.48534E-5 40236 0 0.00662213
15-28231784-G-A p.Ile372Ile synonymous OCA2 2 80522 2.48379E-5 40261 0 5.52979E-4
15-28231788-A-G p.Met371Thr missense+splice_region OCA2 1 80484 1.24248E-5 40242 0 3.1835E-5
15-28231792-AT-GC c.1111-4_1111-3delATinsGC splice_region OCA2 5 80404 6.2186E-5 40202 0 NA
15-28231792-A-G c.1111-3T>C splice_region OCA2 6 80404 7.46232E-5 40202 0 1.2738E-4
15-28231793-T-C c.1111-4A>G splice_region OCA2 60227 79098 0.761423 39549 23449 0.78235
15-28234746-C-T c.1110+1G>A splice_donor OCA2 14 80914 1.73023E-4 40457 0 1.27445E-4
15-28234747-C-T p.Met370Ile missense+splice_region OCA2 1 80922 1.23576E-5 40461 0 1.1938E-5
15-28234751-C-A p.Gly369Val missense OCA2 1 80944 1.23542E-5 40472 0 8.30717E-6
15-28234763-G-A p.Ala365Val missense OCA2 2 80952 2.4706E-5 40476 0 NA
15-28234769-G-A p.Thr363Met missense OCA2 17 80958 2.09985E-4 40479 0 1.98893E-4
15-28234776-A-T p.Phe361Ile missense OCA2 66 80974 8.15076E-4 40487 2 0.00197603
15-28234786-C-G p.Glu357Asp missense OCA2 1 80974 1.23496E-5 40487 0 NA
15-28234791-C-T p.Val356Met missense OCA2 2 80970 2.47005E-5 40485 0 1.98881E-5
15-28234791-C-G p.Val356Leu missense OCA2 6 80968 7.41034E-5 40484 0 1.91229E-4
15-28234792-C-T p.Val355Val synonymous OCA2 2 80970 2.47005E-5 40485 0 8.29779E-6
15-28235724-C-T p.Asp372Asn missense+splice_region OCA2 3 80638 3.72033E-5 40319 0 3.18451E-5
15-28235725-G-A p.Gly371Gly synonymous OCA2 1427 80584 0.0177082 40292 35 0.0243063
15-28235729-A-G p.Ile370Thr missense OCA2 122 80638 0.00151293 40319 2 0.00296216
15-28235735-G-A p.Ala368Val missense OCA2 33 80634 4.09257E-4 40317 0 6.05173E-4
15-28235754-C-T p.Ala362Thr missense OCA2 1 80582 1.24097E-5 40291 0 8.24769E-6
15-28235758-G-A p.Ser360Ser synonymous OCA2 1 80558 1.24134E-5 40279 0 3.18471E-5
15-28235773-C-T p.Ala355Ala synonymous OCA2 52128 78496 0.664085 39248 18644 0.638633
15-28235774-G-A p.Ala355Val missense OCA2 4 80394 4.9755E-5 40197 0 3.06724E-4
15-28235790-C-T p.Val350Met missense OCA2 9 80180 1.12247E-4 40090 0 1.48787E-4
15-28235791-G-A p.Ile349Ile splice_region+synonymous OCA2 16 80162 1.99596E-4 40081 0 9.09331E-5
15-28235791-G-C p.Ile349Met missense+splice_region OCA2 2 80162 2.49495E-5 40081 0 4.95999E-5
15-28259917-G-A c.1044+5C>T splice_region OCA2 1 80384 1.24403E-5 40192 0 3.18634E-5
15-28259919-T-C c.1044+3A>G splice_region OCA2 10 80420 1.24347E-4 40210 0 NA
15-28259930-T-C p.Ile346Val missense OCA2 1 80550 1.24146E-5 40275 0 3.9968E-6
15-28259935-A-G p.Leu344Pro missense OCA2 1 80576 1.24106E-5 40288 0 3.99259E-6
15-28259940-G-A p.Tyr342Tyr synonymous OCA2 260 80604 0.00322565 40302 2 0.00688688
15-28259941-T-C p.Tyr342Cys missense OCA2 37 80628 4.58898E-4 40314 0 2.552E-4
15-28259945-C-T p.Val341Ile missense OCA2 6 80632 7.44121E-5 40316 0 6.3743E-5
15-28259946-G-A p.Gly340Gly synonymous OCA2 21 80630 2.60449E-4 40315 0 0.00100705
15-28259950-G-A p.Ala339Val missense OCA2 2 80656 2.47967E-5 40328 0 2.52321E-5
15-28259951-C-A p.Ala339Ser missense OCA2 11 80660 1.36375E-4 40330 0 2.54972E-4
15-28259951-C-T p.Ala339Thr missense OCA2 2 80660 2.47954E-5 40330 0 9.56145E-5
15-28259952-G-A p.Leu338Leu synonymous OCA2 2 80686 2.47874E-5 40343 0 2.51991E-5
15-28259959-G-A p.Ala336Val missense OCA2 266 80666 0.00329755 40333 2 0.00697808
15-28259962-G-A p.Thr335Met missense OCA2 9 80680 1.11552E-4 40340 0 1.75747E-4
15-28259965-G-A p.Ala334Val missense OCA2 1 80670 1.23962E-5 40335 0 7.9654E-6
15-28259966-C-T p.Ala334Thr missense OCA2 2 80710 2.47801E-5 40355 0 1.19474E-5
15-28259972-T-G p.Thr332Pro missense OCA2 2 80720 2.4777E-5 40360 0 8.34376E-6
15-28259987-C-T p.Val327Ile missense OCA2 1 80766 1.23814E-5 40383 0 1.19406E-5
15-28259994-G-A p.Arg324Arg synonymous OCA2 4 80754 4.95332E-5 40377 0 9.15583E-5
15-28259996-G-A p.Arg324Cys missense OCA2 15 80758 1.8574E-4 40379 0 5.41608E-4
15-28260001-T-C p.Tyr322Cys missense OCA2 1 80752 1.23836E-5 40376 0 3.32662E-5
15-28260003-C-T p.Gln321Gln synonymous OCA2 6 80760 7.42942E-5 40380 0 0.00100705
15-28260012-C-T p.Met318Ile missense OCA2 9 80766 1.11433E-4 40383 0 5.65282E-4
15-28260023-G-A p.Pro315Ser missense OCA2 2 80768 2.47623E-5 40384 0 3.18532E-5
15-28260025-A-C p.Val314Gly missense OCA2 3 80762 3.71462E-5 40381 0 1.66331E-5
15-28260034-G-A p.Thr311Ile missense OCA2 1 80730 1.2387E-5 40365 0 NA
15-28260052-C-T p.Arg305Gln missense OCA2 14 80624 1.73646E-4 40312 0 5.03525E-4
15-28260053-G-A p.Arg305Trp missense OCA2 5922 80384 0.0736714 40192 274 0.138125
15-28260069-C-T p.Thr299Thr synonymous OCA2 3 80336 3.73432E-5 40168 0 2.86642E-4
15-28260070-G-A p.Thr299Met missense OCA2 2 80330 2.48973E-5 40165 0 1.03639E-4
15-28260079-C-A c.891-4G>T splice_region OCA2 1 80090 1.2486E-5 40045 0 8.48796E-6
15-28261242-G-GA c.890+7_890+8insT splice_region OCA2 1 80936 1.23554E-5 40468 0 NA
15-28261244-A-T c.890+6T>A splice_region OCA2 1 80942 1.23545E-5 40471 0 3.9764E-6
15-28261251-T-G p.Arg297Arg splice_region+synonymous OCA2 1 80986 1.23478E-5 40493 0 NA
15-28261262-T-C p.Glu293Gly missense OCA2 4 81016 4.9373E-5 40508 0 1.19289E-5
15-28261271-C-T p.Arg290Lys missense OCA2 2 81040 2.46792E-5 40520 0 3.97621E-6
15-28261283-G-T p.Ser286* stop_gained OCA2 1 81048 1.23384E-5 40524 0 NA
15-28261291-G-A p.Ser283Ser synonymous OCA2 2 81036 2.46804E-5 40518 0 3.18451E-5
15-28261291-G-T p.Ser283Arg missense OCA2 1 81036 1.23402E-5 40518 0 6.36902E-5
15-28261291-G-C p.Ser283Arg missense OCA2 1 81036 1.23402E-5 40518 0 6.25E-4
15-28261300-C-T p.Pro280Pro synonymous OCA2 2 81042 2.46786E-5 40521 0 6.25E-4
15-28261302-G-A p.Pro280Ser missense OCA2 1 81046 1.23387E-5 40523 0 8.23778E-6
15-28261316-G-A p.Thr275Met missense OCA2 2 81018 2.46859E-5 40509 0 8.23778E-5
15-28261316-G-C p.Thr275Arg missense OCA2 1 81018 1.23429E-5 40509 0 3.97674E-6
15-28261317-T-TGA p.Thr275fs frameshift OCA2 14 81020 1.72797E-4 40510 0 3.50274E-4
15-28261319-CAG-C p.Asn273fs frameshift OCA2 14 81012 1.72814E-4 40506 0 3.50341E-4
15-28261337-A-T c.808-5T>A splice_region OCA2 1 80986 1.23478E-5 40493 0 NA
15-28263542-C-A c.807+1G>T splice_donor OCA2 1 80650 1.23993E-5 40325 0 8.39842E-6
15-28263553-C-T p.Arg266Gln missense OCA2 3 80724 3.71637E-5 40362 0 1.2738E-4
15-28263554-G-A p.Arg266Trp missense OCA2 431 80688 0.00534156 40344 1 0.009375
15-28263564-G-A p.Ser262Ser synonymous OCA2 1 80806 1.23753E-5 40403 0 NA
15-28263576-G-A p.Asp258Asp synonymous OCA2 1 80794 1.23772E-5 40397 0 6.36943E-5
15-28263576-G-C p.Asp258Glu missense OCA2 1 80794 1.23772E-5 40397 0 3.18471E-5
15-28263591-C-T p.Glu253Glu synonymous OCA2 1 80808 1.2375E-5 40404 0 NA
15-28263599-C-T p.Val251Met missense OCA2 94 80742 0.0011642 40371 1 0.0015121
15-28263600-G-A p.Ile250Ile synonymous OCA2 2 80744 2.47696E-5 40372 0 1.67884E-5
15-28263622-C-T p.Arg243His missense OCA2 1 80508 1.24211E-5 40254 0 8.01006E-6
15-28263623-G-A p.Arg243Cys missense OCA2 16 80482 1.98802E-4 40241 0 0.001875
15-28263625-C-T p.Ser242Asn missense OCA2 1 80486 1.24245E-5 40243 0 NA
15-28263628-G-C p.Pro241Arg missense OCA2 109 80464 0.00135464 40232 1 0.0046029
15-28263628-G-A p.Pro241Leu missense OCA2 1 80464 1.24279E-5 40232 0 8.64753E-5
15-28263639-C-T p.Val237Val synonymous OCA2 56 80404 6.96483E-4 40202 0 8.28184E-4
15-28263645-G-A p.Ala235Ala synonymous OCA2 1 80412 1.2436E-5 40206 0 3.18654E-5
15-28263654-C-G p.Leu232Leu synonymous OCA2 1 80440 1.24316E-5 40220 0 1.40058E-4
15-28263662-C-A p.Val230Leu missense OCA2 5 80426 6.21689E-5 40213 0 2.86697E-4
15-28263672-C-T p.Thr226Thr synonymous OCA2 40 80346 4.97847E-4 40173 0 0.00117864
15-28263684-G-A p.His222His synonymous OCA2 2 80212 2.49339E-5 40106 0 6.37308E-5
15-28263695-G-A p.Leu219Phe missense OCA2 2 80072 2.49775E-5 40036 0 6.37024E-5
15-28263701-C-T p.Val217Met missense+splice_region OCA2 1 79798 1.25316E-5 39899 0 1.88861E-5
15-28263707-G-A c.647-4C>T splice_region OCA2 26 79042 3.28939E-4 39521 0 7.97245E-4
15-28267655-T-A p.Glu213Val missense OCA2 2 80814 2.47482E-5 40407 0 8.29724E-6
15-28267656-CCAGCGGTGATAAGGCCAA-C p.Leu207_Leu212del conservative_inframe_deletion OCA2 10 80816 1.23738E-4 40408 0 2.22902E-4
15-28267656-C-T p.Glu213Lys missense OCA2 1 80816 1.23738E-5 40408 0 NA
15-28267661-G-A p.Pro211Leu missense OCA2 6 80866 7.41968E-5 40433 0 1.49355E-4
15-28267662-G-C p.Pro211Ala missense OCA2 2 80870 2.4731E-5 40435 0 8.29641E-6
15-28267667-A-G p.Leu209Ser missense OCA2 1 80886 1.23631E-5 40443 0 NA
15-28267693-T-A p.Gln200His missense OCA2 15 80934 1.85336E-4 40467 0 1.27437E-4
15-28267695-G-C p.Gln200Glu missense OCA2 2 80930 2.47127E-5 40465 0 8.29614E-5
15-28267700-G-A p.Pro198Leu missense OCA2 10 80904 1.23603E-4 40452 0 3.18451E-4
15-28267703-T-A p.Tyr197Phe missense OCA2 1 80896 1.23616E-5 40448 0 3.18552E-5
15-28267707-G-C p.Leu196Val missense OCA2 2 80894 2.47237E-5 40447 0 NA
15-28267710-T-C p.Ser195Gly missense OCA2 5 80884 6.18169E-5 40442 0 3.18471E-5
15-28269983-G-A c.573+8C>T splice_region OCA2 2 78434 2.54991E-5 39217 0 NA
15-28269988-C-T c.573+3G>A splice_region OCA2 7 78496 8.91765E-5 39248 0 4.94332E-5
15-28270011-C-A p.Ala185Ser missense OCA2 4 78618 5.08789E-5 39309 0 NA
15-28270024-G-A p.Val180Val synonymous OCA2 4 78622 5.08763E-5 39311 0 3.60733E-5
15-28270027-T-C p.Lys179Lys synonymous OCA2 2 78652 2.54285E-5 39326 0 5.05561E-4
15-28270030-C-T p.Leu178Leu synonymous OCA2 1 78652 1.27142E-5 39326 0 1.65063E-5
15-28270046-C-T p.Arg173His missense+splice_region OCA2 1 78528 1.27343E-5 39264 0 3.60996E-5
15-28270047-G-A p.Arg173Cys missense+splice_region OCA2 6 78498 7.64351E-5 39249 0 3.51847E-4
15-28273021-G-C p.Leu171Val missense OCA2 1 80362 1.24437E-5 40181 0 NA
15-28273026-G-A p.Ser169Phe missense OCA2 1 80504 1.24217E-5 40252 0 3.18532E-5
15-28273032-C-T p.Arg167His missense OCA2 1 80604 1.24063E-5 40302 0 7.44959E-5
15-28273034-G-A p.Leu166Leu synonymous OCA2 4 80686 4.95749E-5 40343 0 6.37227E-5
15-28273043-G-A p.His163His synonymous OCA2 2 80806 2.47506E-5 40403 0 3.18281E-5
15-28273046-C-T p.Pro162Pro synonymous OCA2 1 80810 1.23747E-5 40405 0 3.18532E-5
15-28273073-G-C p.Ser153Ser synonymous OCA2 1 80942 1.23545E-5 40471 0 NA
15-28273081-C-T p.Ala151Thr missense OCA2 2 80956 2.47048E-5 40478 0 6.25E-4
15-28273102-C-A p.Val144Leu missense OCA2 2 80976 2.46987E-5 40488 0 NA
15-28273110-C-T p.Ser141Asn missense OCA2 1 80980 1.23487E-5 40490 0 3.1835E-5
15-28273125-C-T p.Arg136Gln missense OCA2 1 80984 1.23481E-5 40492 0 1.2738E-4
15-28273156-ACT-A p.Glu125fs frameshift OCA2 1 80998 1.2346E-5 40499 0 1.64742E-5
15-28273161-T-G p.Glu124Ala missense OCA2 2 81002 2.46907E-5 40501 0 9.55292E-5
15-28273164-G-T p.Ala123Asp missense OCA2 1 80998 1.2346E-5 40499 0 3.97649E-6
15-28273164-G-A p.Ala123Val missense OCA2 1 81000 1.23457E-5 40500 0 8.23696E-6
15-28273167-G-A p.Thr122Ile missense OCA2 90 80996 0.00111117 40498 0 0.0023244
15-28273189-C-T p.Val115Ile missense OCA2 1 80978 1.2349E-5 40489 0 3.97652E-6
15-28273195-T-C p.Ile113Val missense OCA2 1 80964 1.23512E-5 40482 0 3.97662E-6
15-28273197-C-A p.Cys112Phe missense OCA2 3 80962 3.70544E-5 40481 0 7.41363E-5
15-28273202-T-C p.Ser110Ser synonymous OCA2 1 80958 1.23521E-5 40479 0 NA
15-28273213-G-C c.327-8C>G splice_region OCA2 4 80946 4.94157E-5 40473 0 3.1841E-5
15-28277237-C-G p.Leu100Phe missense OCA2 1 80952 1.2353E-5 40476 0 NA
15-28277250-T-G p.Glu96Ala missense OCA2 4 80968 4.94022E-5 40484 0 1.64976E-5
15-28277251-C-T p.Glu96Lys missense OCA2 2 80970 2.47005E-5 40485 0 NA
15-28277265-TC-AA p.Asp91Phe missense OCA2 1 80978 1.2349E-5 40489 0 NA
15-28277268-T-G p.Lys90Thr missense OCA2 1 80976 1.23493E-5 40488 0 3.97665E-6
15-28277280-C-G p.Ser86Thr missense OCA2 1 80966 1.23509E-5 40483 0 2.38603E-5
15-28277285-C-T p.Met84Ile missense OCA2 1 80964 1.23512E-5 40482 0 NA
15-28277305-G-A p.His78Tyr missense OCA2 16 80932 1.97697E-4 40466 0 4.05692E-4
15-28277316-G-A c.228-7C>T splice_region OCA2 1 80878 1.23643E-5 40439 0 NA
15-28326791-C-T c.227+3G>A splice_region OCA2 1 71342 1.4017E-5 35671 0 9.52145E-6
15-28326795-T-A p.Arg76Trp missense+splice_region OCA2 3 72190 4.1557E-5 36095 0 9.56145E-5
15-28326805-G-C p.Leu72Leu synonymous OCA2 7 73756 9.49075E-5 36878 1 3.18471E-5
15-28326831-C-T p.Ala64Thr missense OCA2 1 75540 1.3238E-5 37770 0 8.60171E-6
15-28326833-G-A p.Pro63Leu missense OCA2 1 75636 1.32212E-5 37818 0 NA
15-28326834-G-T p.Pro63Thr missense OCA2 1 75542 1.32377E-5 37771 0 NA
15-28326836-G-C p.Ala62Gly missense OCA2 1 75654 1.32181E-5 37827 0 NA
15-28326849-G-A p.Gln58* stop_gained OCA2 1 76010 1.31562E-5 38005 0 8.60511E-6
15-28326851-C-T p.Gly57Glu missense OCA2 3 76108 3.94177E-5 38054 0 3.44453E-5
15-28326851-C-G p.Gly57Ala missense OCA2 1 76108 1.31392E-5 38054 0 1.21642E-5
15-28326852-C-T p.Gly57Arg missense OCA2 2 76110 2.62778E-5 38055 0 8.61134E-6
15-28326857-G-GC p.Ala55fs frameshift OCA2 1 76178 1.31271E-5 38089 0 NA
15-28326858-C-T p.Ala55Thr missense OCA2 1 76188 1.31254E-5 38094 0 3.18431E-5
15-28326858-C-A p.Ala55Ser missense OCA2 1 76190 1.31251E-5 38095 0 8.63081E-6
15-28326859-C-T p.Gly54Gly synonymous OCA2 1 76300 1.31062E-5 38150 0 3.18471E-5
15-28326863-CT-C p.Arg53fs frameshift OCA2 2 76290 2.62158E-5 38145 0 1.21675E-5
15-28326863-C-T p.Arg53Lys missense OCA2 3 76290 3.93236E-5 38145 0 3.1841E-5
15-28326867-G-A p.Pro52Ser missense OCA2 1 76178 1.31271E-5 38089 0 NA
15-28326877-C-T p.Ser48Ser synonymous OCA2 19 75994 2.5002E-4 37997 0 0.00153301
15-28326878-G-A p.Ser48Leu missense OCA2 2 76224 2.62385E-5 38112 0 3.18552E-5
15-28326889-TC-T p.Gly44fs frameshift OCA2 2 75936 2.6338E-5 37968 0 3.49907E-5
15-28326894-C-T p.Gly43Ser missense OCA2 1 75942 1.31679E-5 37971 0 8.79863E-6
15-28326895-G-A p.Ala42Ala synonymous OCA2 117 75852 0.00154248 37926 0 0.0028038
15-28326903-G-A p.Arg40Trp missense OCA2 1 75914 1.31728E-5 37957 0 3.53551E-5
15-28326911-C-T p.Arg37Lys missense OCA2 1 76152 1.31316E-5 38076 0 4.09638E-6
15-28326914-C-T p.Arg36His missense OCA2 6 76010 7.8937E-5 38005 0 9.7938E-5
15-28326915-G-A p.Arg36Cys missense OCA2 14 75916 1.84414E-4 37958 0 2.23058E-4
15-28326921-C-T p.Gly34Ser missense OCA2 1 76226 1.31189E-5 38113 0 6.37186E-5
15-28326922-G-A p.Ala33Ala synonymous OCA2 1 76258 1.31134E-5 38129 0 6.37389E-5
15-28326933-C-G p.Glu30Gln missense OCA2 1 76612 1.30528E-5 38306 0 8.97698E-6
15-28326936-C-T p.Ala29Thr missense OCA2 1 76394 1.309E-5 38197 0 3.18776E-5
15-28326937-G-A p.Leu28Leu synonymous OCA2 9 76470 1.17693E-4 38235 0 2.23172E-4
15-28326942-C-T p.Gly27Arg missense OCA2 227 76552 0.0029653 38276 4 0.00506918
15-28326942-CGCTGG-C p.Pro25fs frameshift OCA2 1 76552 1.3063E-5 38276 0 6.37633E-5
15-28326943-G-A p.Ser26Ser synonymous OCA2 1 76492 1.30733E-5 38246 0 9.0583E-6
15-28326952-G-A p.Ser23Ser synonymous OCA2 10 76648 1.30467E-4 38324 0 3.68472E-4
15-28326955-C-G p.Thr22Thr synonymous OCA2 2 76540 2.61301E-5 38270 0 4.14384E-6
15-28326956-G-A p.Thr22Met missense OCA2 1 76484 1.30746E-5 38242 0 9.56511E-5
15-28326973-C-T p.Ala16Ala synonymous OCA2 3 76662 3.91328E-5 38331 0 1.27575E-4
15-28326974-G-A p.Ala16Val missense OCA2 4 76626 5.22016E-5 38313 0 1.9115E-5
15-28326976-C-T p.Pro15Pro synonymous OCA2 40 76632 5.21975E-4 38316 0 3.76888E-4
15-28326977-G-A p.Pro15Leu missense OCA2 3 76602 3.91635E-5 38301 0 0.00187735
15-28326980-G-A p.Ala14Val missense OCA2 7 76562 9.14292E-5 38281 0 6.72663E-5
15-28326981-C-T p.Ala14Thr missense OCA2 3 76560 3.9185E-5 38280 0 1.1741E-4
15-28326982-G-A p.Gly13Gly synonymous OCA2 3 76532 3.91993E-5 38266 0 6.75754E-5
15-28326984-C-T p.Gly13Ser missense OCA2 21 76586 2.74202E-4 38293 0 0.00143513
15-28326985-G-A p.Pro12Pro synonymous OCA2 1 76786 1.30232E-5 38393 0 0.00101215
15-28326992-C-T p.Arg10Gln missense OCA2 17 76874 2.21141E-4 38437 0 3.47823E-4
15-28326993-G-A p.Arg10Trp missense OCA2 5 76800 6.51042E-5 38400 0 1.69043E-4
15-28326995-C-T p.Arg9Lys missense OCA2 1 77002 1.29867E-5 38501 0 NA
15-28326999-C-T p.Gly8Ser missense OCA2 1 77022 1.29833E-5 38511 0 1.67987E-5
15-28327000-G-A p.Asp7Asp synonymous OCA2 4 76962 5.19737E-5 38481 0 4.05252E-5
15-28327008-C-A p.Gly5Cys missense OCA2 1 76896 1.30046E-5 38448 0 4.21898E-6
15-28327047-G-A c.-21-6C>T splice_region OCA2 1 75762 1.31992E-5 37881 0 4.71009E-6