Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-79355503-A-T p.Cys149* stop_gained ELTD1 1 55406 1.80486E-5 27703 0 6.91869E-6
1-79355512-G-A c.444-6C>T splice_region ELTD1 26 55422 4.69128E-4 27711 1 5.41884E-4
1-79356836-T-A c.443+7A>T splice_region ELTD1 1 81668 1.22447E-5 40834 0 NA
1-79356848-A-T p.Cys688* stop_gained ELTD1 2 81750 2.44648E-5 40875 0 8.3619E-6
1-79356869-A-G p.Asn681Asn synonymous ELTD1 9 81794 1.10033E-4 40897 0 2.51075E-5
1-79356870-T-C p.Asn681Ser missense ELTD1 1 81756 1.22315E-5 40878 0 NA
1-79356882-C-T p.Arg677Lys missense ELTD1 1 81604 1.22543E-5 40802 0 NA
1-79356889-A-C p.Tyr675Asp missense ELTD1 1 81454 1.22769E-5 40727 0 NA
1-79356902-C-T c.2011-1G>A splice_acceptor ELTD1 1 80866 1.23661E-5 40433 0 NA
1-79356908-A-G c.2011-7T>C splice_region ELTD1 2 80574 2.48219E-5 40287 0 1.77384E-5
1-79357200-AT-A c.2010+8delA splice_region ELTD1 2 82682 2.41891E-5 41341 0 1.72351E-5
1-79357233-T-TA p.Leu662fs frameshift ELTD1 1 82906 1.20619E-5 41453 0 2.01541E-5
1-79357242-G-A p.Phe659Phe synonymous ELTD1 1 82908 1.20616E-5 41454 0 NA
1-79357249-C-G p.Gly657Ala missense ELTD1 1 82910 1.20613E-5 41455 0 7.51629E-5
1-79357254-G-C p.Phe655Leu missense ELTD1 2 82902 2.41249E-5 41451 0 NA
1-79357258-G-A p.Ala654Val missense ELTD1 1 82912 1.2061E-5 41456 0 NA
1-79357261-T-C p.Asn653Ser missense ELTD1 1 82930 1.20584E-5 41465 0 2.50125E-5
1-79357277-G-C p.Leu648Val missense ELTD1 1 82902 1.20624E-5 41451 0 NA
1-79357288-A-C p.Val644Gly missense ELTD1 1 82872 1.20668E-5 41436 0 NA
1-79357296-T-C p.Ala641Ala synonymous ELTD1 2 82808 2.41523E-5 41404 0 3.18492E-5
1-79357299-G-A p.His640His synonymous ELTD1 6 82802 7.2462E-5 41401 0 2.49825E-5
1-79357310-GGA-G p.Leu636fs frameshift ELTD1 2 82748 2.41698E-5 41374 0 NA
1-79357313-G-T p.Leu636Ile missense ELTD1 1 82732 1.20872E-5 41366 0 NA
1-79357316-C-A p.Val635Phe missense ELTD1 2 82704 2.41826E-5 41352 0 8.32806E-6
1-79357325-T-C p.Ile632Val missense ELTD1 1 82632 1.21018E-5 41316 0 1.66586E-5
1-79357334-T-C p.Thr629Ala missense ELTD1 1 82552 1.21136E-5 41276 0 3.3325E-5
1-79357337-C-T p.Gly628Ser missense ELTD1 2 82484 2.42471E-5 41242 0 NA
1-79357338-G-A p.Leu627Leu synonymous ELTD1 5 82492 6.06119E-5 41246 0 5.00025E-5
1-79357349-G-C p.Leu624Val missense ELTD1 1 82396 1.21365E-5 41198 0 0.00100705
1-79357353-A-G p.Ala622Ala synonymous ELTD1 2 82342 2.42889E-5 41171 0 NA
1-79357354-G-A p.Ala622Val missense ELTD1 1 82320 1.21477E-5 41160 0 NA
1-79357357-AG-A p.Leu621fs frameshift ELTD1 3 82264 3.6468E-5 41132 0 3.1837E-5
1-79357359-GG-CC p.Ala620Gly missense ELTD1 2 82234 2.43208E-5 41117 0 NA
1-79357360-G-C p.Ala620Gly missense ELTD1 23521 81262 0.289446 40631 3400 0.318228
1-79357362-T-C p.Gly619Gly synonymous ELTD1 3 82216 3.64892E-5 41108 0 3.18451E-5
1-79357377-C-A p.Arg614Ser missense+splice_region ELTD1 1 81990 1.21966E-5 40995 0 NA
1-79358775-G-A c.1841+8C>T splice_region ELTD1 5 80490 6.21195E-5 40245 0 6.25E-4
1-79358787-T-C p.Ile613Val missense ELTD1 1 82124 1.21767E-5 41062 0 6.595E-5
1-79358803-A-G p.Val607Val synonymous ELTD1 1 82696 1.20925E-5 41348 0 4.23862E-6
1-79358805-C-T p.Val607Ile missense ELTD1 2 82636 2.42025E-5 41318 0 NA
1-79358810-G-C p.Pro605Arg missense ELTD1 2 82790 2.41575E-5 41395 0 5.04032E-4
1-79358811-G-A p.Pro605Ser missense ELTD1 10 82806 1.20764E-4 41403 0 6.25E-4
1-79358817-A-T p.Leu603Met missense ELTD1 7 82892 8.44472E-5 41446 0 1.92086E-4
1-79358819-C-T p.Gly602Glu missense ELTD1 1 82892 1.20639E-5 41446 0 NA
1-79358827-G-T p.His599Gln missense ELTD1 2365 82806 0.0285607 41403 54 0.0254687
1-79358831-C-T p.Arg598His missense ELTD1 62 82870 7.4816E-4 41435 0 6.25E-4
1-79358837-A-G p.Val596Ala missense ELTD1 1 82932 1.20581E-5 41466 0 NA
1-79358842-G-C p.Tyr594* stop_gained ELTD1 5 82908 6.03078E-5 41454 0 0.00302725
1-79358846-A-G p.Ile593Thr missense ELTD1 1 82892 1.20639E-5 41446 0 8.29421E-6
1-79358846-A-T p.Ile593Lys missense ELTD1 4 82892 4.82556E-5 41446 0 NA
1-79358848-G-C p.Ile592Met missense ELTD1 1 82896 1.20633E-5 41448 0 4.20465E-5
1-79358852-A-C p.Val591Gly missense ELTD1 2 82866 2.41354E-5 41433 0 NA
1-79358863-C-G p.Leu587Phe missense ELTD1 4 82766 4.8329E-5 41383 0 5.04541E-4
1-79358866-G-A p.Leu586Leu synonymous ELTD1 1 82674 1.20957E-5 41337 0 8.55593E-6
1-79358880-A-T c.1750-6T>A splice_region ELTD1 1 82146 1.21734E-5 41073 0 NA
1-79383316-T-C c.1749+3A>G splice_region ELTD1 5 81746 6.11651E-5 40873 0 6.41313E-5
1-79383321-G-T p.Leu583Ile missense+splice_region ELTD1 1 81978 1.21984E-5 40989 0 NA
1-79383326-A-T p.Ile581Asn missense ELTD1 1 82134 1.21752E-5 41067 0 NA
1-79383331-G-C p.Cys579Trp missense ELTD1 14 82244 1.70225E-4 41122 0 6.41108E-5
1-79383331-G-T p.Cys579* stop_gained ELTD1 1 82244 1.21589E-5 41122 0 NA
1-79383342-C-A p.Gly576* stop_gained ELTD1 3 82422 3.63981E-5 41211 0 0.00100806
1-79383343-T-C p.Ile575Met missense ELTD1 1 82430 1.21315E-5 41215 0 4.08754E-6
1-79383345-T-C p.Ile575Val missense ELTD1 2 82464 2.4253E-5 41232 0 3.6777E-5
1-79383345-T-TA p.Ile575fs frameshift ELTD1 2 82464 2.4253E-5 41232 0 NA
1-79383357-T-G p.Ile571Leu missense ELTD1 1 82588 1.21083E-5 41294 0 NA
1-79383369-C-T p.Glu567Lys missense ELTD1 8 82688 9.67492E-5 41344 0 0.00151057
1-79383520-G-T p.Thr559Thr synonymous ELTD1 2 82532 2.4233E-5 41266 0 6.38203E-5
1-79383527-C-T p.Gly557Asp missense ELTD1 1 82566 1.21115E-5 41283 0 NA
1-79383530-T-C p.Tyr556Cys missense ELTD1 1 82580 1.21095E-5 41290 0 4.0222E-6
1-79383541-T-C p.Gly552Gly synonymous ELTD1 1 82582 1.21092E-5 41291 0 1.65994E-5
1-79383542-C-T p.Gly552Glu missense ELTD1 2 82590 2.4216E-5 41295 0 NA
1-79383552-C-A p.Ala549Ser missense ELTD1 1 82566 1.21115E-5 41283 0 4.0201E-6
1-79383553-C-T p.Ser548Ser synonymous ELTD1 3 82556 3.6339E-5 41278 0 1.60822E-5
1-79383554-G-A p.Ser548Leu missense ELTD1 19 82554 2.30152E-4 41277 0 1.76904E-4
1-79383557-A-C p.Phe547Cys missense ELTD1 1 82554 1.21133E-5 41277 0 8.29765E-6
1-79383567-C-T p.Val544Ile missense ELTD1 1 82518 1.21186E-5 41259 0 NA
1-79383570-C-T p.Val543Met missense ELTD1 3 82514 3.63575E-5 41257 0 2.48983E-5
1-79383571-G-A p.Ala542Ala synonymous ELTD1 536 82504 0.00649665 41252 11 0.0118629
1-79383592-G-T p.Ile535Ile synonymous ELTD1 2 82364 2.42825E-5 41182 0 1.66061E-5
1-79383604-C-A p.Lys531Asn missense ELTD1 12 82248 1.459E-4 41124 0 1.49477E-4
1-79383607-G-GTA p.Lys531fs frameshift ELTD1 1 82230 1.2161E-5 41115 0 NA
1-79383610-C-T p.Leu529Leu synonymous ELTD1 1 82152 1.21726E-5 41076 0 2.49161E-5
1-79383620-T-G p.Lys526Thr missense ELTD1 4 82094 4.87246E-5 41047 0 3.1902E-5
1-79383626-TA-T p.Tyr524fs frameshift ELTD1 1 82032 1.21904E-5 41016 0 3.19101E-5
1-79383628-G-T p.Ile523Ile synonymous ELTD1 1 82024 1.21916E-5 41012 0 NA
1-79383633-C-G p.Val522Leu missense ELTD1 1 81980 1.21981E-5 40990 0 NA
1-79383642-CAAT-C p.Ile518del conservative_inframe_deletion ELTD1 4 81990 4.87864E-5 40995 0 3.52383E-4
1-79383643-A-C p.Ile518Met missense ELTD1 4 81974 4.8796E-5 40987 0 NA
1-79383648-G-C p.Leu517Val missense ELTD1 1 81948 1.22029E-5 40974 0 NA
1-79383650-T-C p.Tyr516Cys missense ELTD1 7 81958 8.54096E-5 40979 0 1.66163E-5
1-79383692-A-G p.Leu502Ser missense ELTD1 1 81458 1.22763E-5 40729 0 NA
1-79383694-A-C p.Phe501Leu missense ELTD1 2 81416 2.45652E-5 40708 0 1.66381E-5
1-79383711-G-T p.Leu496Met missense ELTD1 1 81014 1.23435E-5 40507 0 4.06134E-6
1-79383714-C-T p.Gly495Arg missense ELTD1 2 80898 2.47225E-5 40449 0 6.50153E-5
1-79383743-T-A c.1462-8A>T splice_region ELTD1 3 79038 3.79564E-5 39519 0 1.27718E-4
1-79383743-TC-AA c.1462-9_1462-8delGAinsTT splice_region ELTD1 5 79082 6.32255E-5 39541 0 NA
1-79385860-C-T c.1461+8G>A splice_region ELTD1 1 81424 1.22814E-5 40712 0 8.16073E-6
1-79385871-A-T p.Asn486Lys missense ELTD1 6 81694 7.34448E-5 40847 0 8.11372E-6
1-79385872-T-C p.Asn486Ser missense ELTD1 1 81718 1.22372E-5 40859 0 4.05643E-6
1-79385878-T-C p.Asn484Ser missense ELTD1 1 81836 1.22196E-5 40918 0 8.53869E-6
1-79385884-T-C p.Asn482Ser missense ELTD1 1 81896 1.22106E-5 40948 0 8.47961E-6
1-79385886-G-T p.Ile481Ile synonymous ELTD1 1 81924 1.22064E-5 40962 0 NA
1-79385888-T-C p.Ile481Val missense ELTD1 1 81946 1.22032E-5 40973 0 NA
1-79385889-C-T p.Gly480Gly synonymous ELTD1 1 81966 1.22002E-5 40983 0 NA
1-79385919-T-C p.Leu470Leu synonymous ELTD1 45 82084 5.48219E-4 41042 0 9.89088E-4
1-79385942-G-A p.His463Tyr missense ELTD1 2 82036 2.43795E-5 41018 0 1.27559E-4
1-79385947-G-A p.Thr461Ile missense ELTD1 2 82052 2.43748E-5 41026 0 NA
1-79385950-G-A p.Thr460Ile missense ELTD1 3 82028 3.65729E-5 41014 0 3.18939E-5
1-79385952-C-T p.Arg459Arg synonymous ELTD1 2 82016 2.43855E-5 41008 0 NA
1-79385953-C-T p.Arg459Lys missense ELTD1 1 82016 1.21927E-5 41008 0 NA
1-79385958-G-T p.Ser457Arg missense ELTD1 9 82004 1.09751E-4 41002 0 1.27559E-4
1-79385965-A-T p.Ile455Asn missense ELTD1 3 81968 3.65996E-5 40984 0 2.41705E-5
1-79385972-T-G p.Ser453Arg missense ELTD1 62 81924 7.56799E-4 40962 0 0.00352823
1-79385972-T-C p.Ser453Gly missense ELTD1 9 81924 1.09858E-4 40962 0 6.67123E-5
1-79385987-T-TA p.Thr448fs frameshift ELTD1 1 81740 1.22339E-5 40870 0 NA
1-79386005-G-T p.Leu442Ile missense ELTD1 1 81430 1.22805E-5 40715 0 NA
1-79386014-G-A p.Leu439Leu synonymous ELTD1 4 81190 4.92671E-5 40595 0 6.37674E-5
1-79386019-A-G p.Ile437Thr missense ELTD1 3 81058 3.70105E-5 40529 0 3.18796E-5
1-79386033-T-C p.Gln432Gln synonymous ELTD1 1 80616 1.24045E-5 40308 0 NA
1-79386043-C-T p.Arg429Lys missense ELTD1 1 80282 1.24561E-5 40141 0 4.08167E-6
1-79386047-T-C p.Thr428Ala missense ELTD1 20 80026 2.49919E-4 40013 0 0.00302725
1-79386055-T-C p.Asn425Ser missense ELTD1 1 79644 1.25559E-5 39822 0 NA
1-79387290-T-C c.1257+8A>G splice_region ELTD1 1 77402 1.29196E-5 38701 0 1.77302E-5
1-79387308-C-T p.Gly416Asp missense ELTD1 3 80920 3.70737E-5 40460 0 8.71779E-6
1-79387309-C-A p.Gly416Cys missense ELTD1 1 80962 1.23515E-5 40481 0 NA
1-79387320-A-C p.Leu412Trp missense ELTD1 7 82038 8.53263E-5 41019 0 9.56816E-5
1-79387329-A-G p.Phe409Ser missense ELTD1 1 82032 1.21904E-5 41016 0 4.24297E-5
1-79387340-G-A p.His405His synonymous ELTD1 3 82258 3.64706E-5 41129 0 NA
1-79387350-C-T p.Arg402His missense ELTD1 4 82358 4.85684E-5 41179 0 1.33621E-4
1-79387351-G-A p.Arg402Cys missense ELTD1 6 82438 7.2782E-5 41219 0 0.00151057
1-79387351-G-T p.Arg402Ser missense ELTD1 8 82438 9.70426E-5 41219 0 5.08345E-5
1-79387369-C-T p.Glu396Lys missense ELTD1 3 82642 3.63012E-5 41321 0 4.15338E-6
1-79387381-TCAGCTCA-T p.Cys389fs frameshift ELTD1 1 82618 1.21039E-5 41309 0 NA
1-79387385-C-G p.Glu390Asp missense ELTD1 1 82618 1.21039E-5 41309 0 4.15324E-6
1-79387389-C-T p.Cys389Tyr missense ELTD1 3 82614 3.63135E-5 41307 0 NA
1-79387394-C-G p.Glu387Asp missense ELTD1 1 82604 1.2106E-5 41302 0 NA
1-79387400-A-G p.Ser385Ser synonymous ELTD1 1 82580 1.21095E-5 41290 0 4.1511E-6
1-79387410-C-T p.Gly382Asp missense ELTD1 3 82518 3.63557E-5 41259 0 4.15248E-5
1-79387412-A-G p.Asn381Asn synonymous ELTD1 1 82534 1.21162E-5 41267 0 NA
1-79387419-G-T p.Thr379Asn missense ELTD1 1 82460 1.21271E-5 41230 0 2.51298E-5
1-79387428-G-T p.Ser376* stop_gained ELTD1 1 82398 1.21362E-5 41199 0 NA
1-79387430-G-A p.Tyr375Tyr synonymous ELTD1 1 82370 1.21403E-5 41185 0 4.70403E-5
1-79387450-G-A p.Leu369Leu synonymous ELTD1 3 82148 3.65195E-5 41074 0 1.71139E-5
1-79387451-A-G p.Ser368Ser synonymous ELTD1 1 82110 1.21788E-5 41055 0 4.76181E-6
1-79387452-C-T p.Ser368Asn missense ELTD1 1 82090 1.21818E-5 41045 0 NA
1-79387454-C-T p.Arg367Arg synonymous ELTD1 2 82032 2.43807E-5 41016 0 NA
1-79387455-C-T p.Arg367Lys missense ELTD1 2 82018 2.43849E-5 41009 0 5.17491E-5
1-79387474-GA-G c.1084-4delT splice_region ELTD1 1 78818 1.26875E-5 39409 0 4.35058E-5
1-79392571-C-T p.Lys361Lys splice_region+synonymous ELTD1 1 81486 1.2272E-5 40743 0 1.73581E-5
1-79392575-C-T p.Arg360Gln missense ELTD1 2 81588 2.45134E-5 40794 0 4.04907E-6
1-79392576-G-A p.Arg360* stop_gained ELTD1 2 81638 2.44984E-5 40819 0 2.57343E-5
1-79392592-T-C p.Thr354Thr synonymous ELTD1 1 82066 1.21853E-5 41033 0 4.03441E-6
1-79392593-G-A p.Thr354Ile missense ELTD1 1 82082 1.21829E-5 41041 0 NA
1-79392621-G-A p.Pro345Ser missense ELTD1 2 82506 2.42407E-5 41253 0 8.34014E-6
1-79392635-A-C p.Met340Arg missense ELTD1 3 82658 3.62941E-5 41329 0 8.33361E-6
1-79392636-T-C p.Met340Val missense ELTD1 3 82668 3.62897E-5 41334 0 8.33292E-6
1-79392647-A-G p.Ile336Thr missense ELTD1 2 82724 2.41768E-5 41362 0 3.18715E-5
1-79392658-T-C p.Ile332Met missense ELTD1 1 82794 1.20782E-5 41397 0 NA
1-79392660-T-C p.Ile332Val missense ELTD1 1 82796 1.20779E-5 41398 0 3.18695E-5
1-79392662-A-G p.Val331Ala missense ELTD1 1 82798 1.20776E-5 41399 0 8.33125E-6
1-79392664-T-C p.Arg330Arg synonymous ELTD1 3 82804 3.62301E-5 41402 0 NA
1-79392673-C-A p.Glu327Asp missense ELTD1 2 82814 2.41505E-5 41407 0 NA
1-79392680-GA-G p.Ser325fs frameshift ELTD1 1 82818 1.20747E-5 41409 0 9.99717E-5
1-79392698-G-A p.Pro319Leu missense ELTD1 2 82790 2.41575E-5 41395 0 1.66545E-5
1-79392702-T-G p.Lys318Gln missense ELTD1 1 82802 1.2077E-5 41401 0 NA
1-79392721-T-C p.Ser311Ser synonymous ELTD1 2 82650 2.41984E-5 41325 0 4.02013E-6
1-79392729-G-A p.Leu309Phe missense ELTD1 1 82588 1.21083E-5 41294 0 4.02062E-6
1-79392731-A-G p.Leu308Ser missense ELTD1 6 82560 7.26744E-5 41280 0 8.32362E-5
1-79392740-A-G p.Ile305Thr missense ELTD1 2 82422 2.42654E-5 41211 0 0.00100705
1-79392746-TTATAA-T p.Tyr301fs frameshift ELTD1 4 82314 4.85944E-5 41157 0 3.18674E-5
1-79392752-T-C p.Tyr301Cys missense ELTD1 1 82160 1.21714E-5 41080 0 9.55779E-5
1-79392752-T-A p.Tyr301Phe missense ELTD1 1 82160 1.21714E-5 41080 0 NA
1-79392756-C-A p.Val300Leu missense ELTD1 46246 77192 0.599104 38596 13746 0.650089
1-79392767-G-A p.Ala296Val missense ELTD1 1 81788 1.22267E-5 40894 0 8.10767E-6
1-79392773-T-C p.Asn294Ser missense ELTD1 1 81752 1.22321E-5 40876 0 4.0663E-6
1-79401980-C-T p.Gly293Ser missense+splice_region ELTD1 2 79072 2.52934E-5 39536 0 4.38281E-6
1-79401991-T-C p.Tyr289Cys missense ELTD1 1 79508 1.25774E-5 39754 0 NA
1-79401993-T-A p.Ala288Ala synonymous ELTD1 4 79640 5.0226E-5 39820 0 8.32058E-6
1-79401998-C-A p.Ala287Ser missense ELTD1 3 79854 3.75686E-5 39927 0 4.9916E-5
1-79402000-T-C p.Lys286Arg missense ELTD1 1 80006 1.24991E-5 40003 0 NA
1-79402009-G-A p.Pro283Leu missense ELTD1 1 80058 1.24909E-5 40029 0 NA
1-79402017-A-G p.Asn280Asn synonymous ELTD1 438 80252 0.00545781 40126 3 0.0130135
1-79402023-G-A p.Tyr278Tyr synonymous ELTD1 1 80324 1.24496E-5 40162 0 3.19203E-5
1-79402027-T-A p.Asp277Val missense ELTD1 2 80304 2.49054E-5 40152 0 3.19142E-5
1-79402032-A-T p.Asp275Glu missense ELTD1 3 80386 3.73199E-5 40193 0 4.33907E-6
1-79402036-A-G p.Met274Thr missense ELTD1 15 80408 1.86549E-4 40204 0 1.91461E-4
1-79402039-T-C p.Asn273Ser missense ELTD1 1 80476 1.24261E-5 40238 0 NA
1-79402044-A-G p.His271His synonymous ELTD1 2 80446 2.48614E-5 40223 0 NA
1-79402052-G-A p.His269Tyr missense ELTD1 2 80388 2.48793E-5 40194 0 2.74471E-5
1-79402067-T-C p.Asn264Asp missense ELTD1 4 79808 5.01203E-5 39904 0 1.44756E-5
1-79402069-T-C p.Tyr263Cys missense ELTD1 75 79654 9.41572E-4 39827 0 0.00178811
1-79402072-GA-G p.Ser262fs frameshift ELTD1 1 79440 1.25881E-5 39720 0 NA
1-79402089-T-C p.Lys256Lys synonymous ELTD1 2 78166 2.55866E-5 39083 0 6.38203E-5
1-79403485-T-C c.760+7A>G splice_region ELTD1 1 82910 1.20613E-5 41455 0 8.46353E-6
1-79403490-A-T c.760+2T>A splice_donor ELTD1 5 82898 6.03151E-5 41449 0 8.64738E-6
1-79403499-C-G p.Thr251Thr synonymous ELTD1 1 82904 1.20621E-5 41452 0 NA
1-79403500-G-A p.Thr251Met missense ELTD1 2 82898 2.4126E-5 41449 0 0.00100705
1-79403513-C-G p.Asp247His missense ELTD1 7 82908 8.44309E-5 41454 0 1.57988E-4
1-79403535-G-A p.Ser239Ser synonymous ELTD1 3 82982 3.61524E-5 41491 0 3.18492E-5
1-79403539-T-C p.Gln238Arg missense ELTD1 1 83000 1.20482E-5 41500 0 NA
1-79403548-C-T p.Arg235Lys missense ELTD1 2 83022 2.409E-5 41511 0 3.18471E-5
1-79403553-AG-A p.Thr233fs frameshift ELTD1 1 83026 1.20444E-5 41513 0 NA
1-79403563-T-C p.Glu230Gly missense ELTD1 2 83058 2.40796E-5 41529 0 7.62091E-5
1-79403569-G-A p.Thr228Ile missense ELTD1 2 83074 2.40749E-5 41537 0 NA
1-79403593-G-A p.Thr220Ile missense ELTD1 2 83074 2.40749E-5 41537 0 4.01091E-6
1-79403613-T-A p.Leu213Phe missense ELTD1 1 83132 1.20291E-5 41566 0 4.1436E-5
1-79403640-C-G p.Arg204Ser missense ELTD1 2 83112 2.40639E-5 41556 0 NA
1-79403640-C-T p.Arg204Arg synonymous ELTD1 1 83112 1.2032E-5 41556 0 NA
1-79403660-C-T p.Val198Met missense ELTD1 2 83114 2.40633E-5 41557 0 0.003125
1-79403660-C-G p.Val198Leu missense ELTD1 1 83114 1.20317E-5 41557 0 8.30344E-6
1-79403661-G-A p.Thr197Thr synonymous ELTD1 5 83114 6.01583E-5 41557 0 8.30179E-6
1-79403667-T-C p.Val195Val synonymous ELTD1 1 83124 1.20302E-5 41562 0 8.30592E-6
1-79403669-C-A p.Val195Leu missense ELTD1 2 83124 2.40604E-5 41562 0 3.19061E-5
1-79403681-G-GA c.577-7_577-6insT splice_region ELTD1 1 83132 1.20291E-5 41566 0 6.5083E-5
1-79403681-GA-G c.577-7delT splice_region ELTD1 1 83132 1.20291E-5 41566 0 NA
1-79403778-T-A c.576+7A>T splice_region ELTD1 2 83116 2.40628E-5 41558 0 8.29876E-6
1-79403796-A-G p.Ser189Pro missense ELTD1 121 83124 0.00145566 41562 0 0.00312102
1-79403803-A-C p.Leu186Leu synonymous ELTD1 48 83126 5.77437E-4 41563 0 5.09489E-4
1-79403806-G-T p.Thr185Thr synonymous ELTD1 1 83116 1.20314E-5 41558 0 1.65939E-5
1-79403816-G-A p.Ala182Val missense ELTD1 1 83120 1.20308E-5 41560 0 0.00125
1-79403828-T-C p.Asn178Ser missense ELTD1 1 83108 1.20325E-5 41554 0 NA
1-79403844-G-C p.Leu173Val missense ELTD1 2 83094 2.40691E-5 41547 0 3.62468E-5
1-79403886-T-C p.Ile159Val missense ELTD1 1 83008 1.2047E-5 41504 0 4.03792E-6
1-79403891-G-C p.Thr157Arg missense ELTD1 5 82980 6.02555E-5 41490 0 3.18613E-5
1-79403898-A-C p.Ser155Ala missense ELTD1 1 82934 1.20578E-5 41467 0 8.06783E-6
1-79403899-A-C p.Leu154Leu synonymous ELTD1 55 82930 6.6321E-4 41465 1 3.89303E-4
1-79403901-G-T p.Leu154Ile missense ELTD1 2 82904 2.41243E-5 41452 0 NA
1-79403909-A-G p.Val151Ala missense ELTD1 1 82858 1.20688E-5 41429 0 3.23478E-5
1-79403912-G-A p.Ser150Phe missense ELTD1 1 82824 1.20738E-5 41412 0 8.50094E-6
1-79403916-T-C p.Asn149Asp missense ELTD1 7 82750 8.45921E-5 41375 0 4.26781E-5
1-79403920-A-G p.Tyr147Tyr synonymous ELTD1 4 82708 4.83629E-5 41354 0 1.70783E-5
1-79403931-G-C p.Gln144Glu missense ELTD1 1 82418 1.21333E-5 41209 0 3.18735E-5
1-79403954-A-G p.Ile136Thr missense ELTD1 2 81980 2.43962E-5 40990 0 6.43004E-5
1-79403965-C-A c.397-1G>T splice_acceptor ELTD1 1 81792 1.22261E-5 40896 0 NA
1-79403966-T-A c.397-2A>T splice_acceptor ELTD1 2 81612 2.45062E-5 40806 0 6.37959E-5
1-79404867-A-T c.396+6T>A splice_region ELTD1 2 80198 2.49383E-5 40099 0 NA
1-79404898-G-A p.Ala124Val missense ELTD1 2 81050 2.46761E-5 40525 0 7.1745E-5
1-79404899-C-T p.Ala124Thr missense ELTD1 2 81108 2.46585E-5 40554 0 1.79134E-5
1-79404905-T-C p.Ile122Val missense ELTD1 3 81192 3.69495E-5 40596 0 8.88889E-6
1-79404908-A-T p.Cys121Ser missense ELTD1 15 81192 1.84747E-4 40596 0 6.42674E-4
1-79404910-A-G p.Val120Ala missense ELTD1 1 81150 1.23229E-5 40575 0 6.2125E-5
1-79404913-T-G p.Asn119Thr missense ELTD1 160 81130 0.00197214 40565 0 0.00211876
1-79404924-G-A p.Cys115Cys synonymous ELTD1 1 80800 1.23762E-5 40400 0 8.87721E-6
1-79404933-A-G p.Asn112Asn synonymous ELTD1 1 80652 1.23989E-5 40326 0 NA
1-79404945-TG-T c.326-3delC splice_region ELTD1 1 80264 1.24589E-5 40132 0 4.59234E-6
1-79404948-A-T c.326-5T>A splice_region ELTD1 1 80186 1.2471E-5 40093 0 4.58001E-6
1-79411951-G-A c.325+8C>T splice_region ELTD1 6074 81940 0.0741274 40970 292 0.0941714
1-79411958-C-A c.325+1G>T splice_donor ELTD1 1 82590 1.2108E-5 41295 0 NA
1-79411961-A-G p.Ile108Thr missense+splice_region ELTD1 1 82708 1.20907E-5 41354 0 1.02074E-4
1-79411962-T-C p.Ile108Val missense ELTD1 1 82714 1.20899E-5 41357 0 8.15242E-6
1-79411963-A-G p.Cys107Cys synonymous ELTD1 1 82722 1.20887E-5 41361 0 3.39564E-5
1-79411964-C-G p.Cys107Ser missense ELTD1 1 82724 1.20884E-5 41362 0 NA
1-79411968-C-A p.Val106Phe missense ELTD1 1860 82646 0.0225056 41323 33 0.0192714
1-79411968-C-T p.Val106Ile missense ELTD1 6 82726 7.25286E-5 41363 0 6.37146E-5
1-79411969-G-T p.Thr105Thr synonymous ELTD1 3 82738 3.6259E-5 41369 0 NA
1-79411977-C-A p.Asp103Tyr missense ELTD1 1 82820 1.20744E-5 41410 0 NA
1-79411982-G-A p.Thr101Ile missense ELTD1 1 82818 1.20747E-5 41409 0 NA
1-79411982-G-C p.Thr101Ser missense ELTD1 1 82818 1.20747E-5 41409 0 8.07774E-6
1-79411995-C-T p.Asp97Asn missense ELTD1 1 82864 1.2068E-5 41432 0 4.0269E-6
1-79411999-G-C p.Asn95Lys missense ELTD1 1 82844 1.20709E-5 41422 0 NA
1-79412018-C-G p.Gly89Ala missense ELTD1 1 82792 1.20785E-5 41396 0 2.81717E-5
1-79412030-A-G p.Met85Thr missense ELTD1 2 82776 2.41616E-5 41388 0 1.68279E-5
1-79412031-T-C p.Met85Val missense ELTD1 2 82758 2.41668E-5 41379 0 NA
1-79412041-A-G p.Ser81Ser synonymous ELTD1 18 82658 2.17765E-4 41329 0 9.86932E-4
1-79412055-T-G p.Asn77His missense ELTD1 1 82528 1.21171E-5 41264 0 NA
1-79412057-G-A p.Thr76Ile missense ELTD1 1 82516 1.21189E-5 41258 0 NA
1-79412060-C-A p.Cys75Phe missense ELTD1 1 82478 1.21244E-5 41239 0 NA
1-79412061-A-T p.Cys75Ser missense ELTD1 1 82460 1.21271E-5 41230 0 NA
1-79412068-A-T p.Asn72Lys missense ELTD1 13 82416 1.57736E-4 41208 0 7.66803E-5
1-79412073-C-T p.Glu71Lys missense ELTD1 4 82322 4.85897E-5 41161 0 1.61786E-5
1-79412074-G-A p.Gly70Gly synonymous ELTD1 4 82322 4.85897E-5 41161 0 1.27453E-4
1-79412096-C-T p.Gly63Glu missense ELTD1 239 82202 0.00290747 41101 2 0.00553877
1-79412111-T-A p.Asp58Val missense+splice_region ELTD1 1 82158 1.21717E-5 41079 0 3.18431E-5
1-79470750-T-C c.172+5A>G splice_region ELTD1 1 83160 1.2025E-5 41580 0 NA
1-79470760-C-T p.Cys56Tyr missense ELTD1 1 83190 1.20207E-5 41595 0 8.10366E-6
1-79470765-T-C p.Thr54Thr synonymous ELTD1 1 83198 1.20195E-5 41599 0 3.18512E-5
1-79470770-C-T p.Val53Ile missense ELTD1 1 83214 1.20172E-5 41607 0 NA
1-79470772-C-G p.Gly52Ala missense ELTD1 1 83218 1.20166E-5 41609 0 4.04076E-6
1-79470784-A-C p.Phe48Cys missense ELTD1 1 83240 1.20135E-5 41620 0 4.03558E-6
1-79470787-C-T p.Gly47Glu missense ELTD1 3 83232 3.60438E-5 41616 0 NA
1-79470788-C-T p.Gly47Arg missense ELTD1 4 83238 4.8055E-5 41619 0 2.54777E-4
1-79470792-G-A p.Asn45Asn synonymous ELTD1 1 83242 1.20132E-5 41621 0 4.04236E-6
1-79470795-G-A p.Cys44Cys synonymous ELTD1 1 83250 1.2012E-5 41625 0 NA
1-79470802-C-G p.Cys42Ser missense ELTD1 1 83256 1.20111E-5 41628 0 NA
1-79470820-C-T p.Arg36His missense ELTD1 2 83262 2.40206E-5 41631 0 9.2348E-5
1-79470821-G-A p.Arg36Cys missense ELTD1 2 83264 2.402E-5 41632 0 3.3145E-5
1-79470830-A-G p.Cys33Arg missense ELTD1 1 83252 1.20117E-5 41626 0 6.37024E-5
1-79470837-AT-A p.Asn30fs frameshift ELTD1 2 83240 2.40269E-5 41620 0 NA
1-79470842-G-A p.Pro29Ser missense ELTD1 1 83232 1.20146E-5 41616 0 8.29174E-6
1-79470855-C-T p.Lys24Lys synonymous ELTD1 1 83226 1.20155E-5 41613 0 NA
1-79470856-T-A p.Lys24Met missense ELTD1 1 83220 1.20163E-5 41610 0 NA
1-79470864-A-G p.Asn21Asn synonymous ELTD1 1 83206 1.20184E-5 41603 0 8.33792E-6
1-79470869-G-A p.Gln20* stop_gained ELTD1 1 83212 1.20175E-5 41606 0 6.37186E-5
1-79470870-A-C p.Thr19Thr synonymous ELTD1 1 83216 1.20169E-5 41608 0 4.01639E-6
1-79470873-A-G p.Tyr18Tyr synonymous ELTD1 2 83208 2.40361E-5 41604 0 4.03346E-6
1-79470875-A-G p.Tyr18His missense ELTD1 2 83208 2.40361E-5 41604 0 NA
1-79470887-A-G p.Leu14Leu synonymous ELTD1 1 83172 1.20233E-5 41586 0 4.13076E-6
1-79470892-G-A p.Thr12Ile missense ELTD1 1 83132 1.20291E-5 41566 0 NA
1-79470895-G-A p.Ser11Phe missense ELTD1 15 83114 1.80475E-4 41557 0 1.92E-4
1-79470895-G-GA p.Ser11fs frameshift ELTD1 1 83114 1.20317E-5 41557 0 1.84298E-5
1-79470902-C-A p.Val9Phe missense+splice_region ELTD1 5 83066 6.01931E-5 41533 0 6.25E-4
1-79470903-C-T p.Val8Val splice_region+synonymous ELTD1 2 83056 2.40801E-5 41528 0 6.02519E-5
1-79470903-C-A p.Val8Val splice_region+synonymous ELTD1 1 83056 1.20401E-5 41528 0 0.001875
1-79470905-C-T c.23-1G>A splice_acceptor ELTD1 1 83040 1.20424E-5 41520 0 NA
1-79470908-A-C c.23-4T>G splice_region ELTD1 1 83022 1.2045E-5 41511 0 4.23876E-6
1-79472311-C-CACT c.22+6_22+7insAGT splice_region ELTD1 1 77702 1.28697E-5 38851 0 NA
1-79472333-G-T p.Arg3Ser missense ELTD1 1 77652 1.2878E-5 38826 0 6.27353E-4
1-79472339-T-C p.Met1? start_lost ELTD1 3 77618 3.86508E-5 38809 0 NA
1-79472362-G-A c.-23C>T 5_prime_UTR_premature_start_codon_gain ELTD1 2 77686 2.57447E-5 38843 0 NA
1-79472377-G-A c.-38C>T 5_prime_UTR_premature_start_codon_gain ELTD1 1 77652 1.2878E-5 38826 0 1.68515E-5