Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-226334312-T-C p.Ter529Ter stop_retained ACBD3 2 83042 2.40842E-5 41521 0 NA
1-226334321-T-C p.Tyr526Cys missense ACBD3 3 83164 3.60733E-5 41582 0 NA
1-226334326-G-T p.Val524Val synonymous ACBD3 1 83196 1.20198E-5 41598 0 NA
1-226334352-G-A p.Arg516Trp missense ACBD3 1 83312 1.20031E-5 41656 0 8.23818E-6
1-226334354-C-T p.Trp515* stop_gained ACBD3 1 83310 1.20034E-5 41655 0 NA
1-226334358-A-G p.Leu514Leu synonymous ACBD3 1 83308 1.20036E-5 41654 0 3.97693E-6
1-226334359-A-G p.Ser513Ser synonymous ACBD3 1 83314 1.20028E-5 41657 0 NA
1-226334394-C-T p.Gly502Arg missense ACBD3 1 83326 1.20011E-5 41663 0 NA
1-226334411-T-A p.His496Leu missense ACBD3 1 83328 1.20008E-5 41664 0 NA
1-226334422-A-G p.Tyr492Tyr synonymous ACBD3 1 83326 1.20011E-5 41663 0 NA
1-226334443-C-T p.Arg485Arg synonymous ACBD3 1 83318 1.20022E-5 41659 0 NA
1-226334449-G-A p.Tyr483Tyr synonymous ACBD3 1 83316 1.20025E-5 41658 0 NA
1-226334458-C-A p.Val480Val synonymous ACBD3 1 83328 1.20008E-5 41664 0 NA
1-226334458-C-T p.Val480Val synonymous ACBD3 1 83328 1.20008E-5 41664 0 3.98216E-6
1-226334464-C-T p.Glu478Glu synonymous ACBD3 1 83328 1.20008E-5 41664 0 7.96705E-6
1-226334479-C-T p.Lys473Lys synonymous ACBD3 1 83314 1.20028E-5 41657 0 3.1835E-5
1-226334483-T-C p.Asn472Ser missense ACBD3 3 83296 3.60161E-5 41648 0 3.19259E-5
1-226334488-A-G p.Asn470Asn synonymous ACBD3 2 83290 2.40125E-5 41645 0 NA
1-226334495-T-C p.Lys468Arg missense ACBD3 1 83266 1.20097E-5 41633 0 8.23737E-6
1-226334514-C-T p.Gly462Ser missense ACBD3 3 83116 3.60941E-5 41558 0 NA
1-226334524-T-C c.1376-2A>G splice_acceptor ACBD3 1 83002 1.20479E-5 41501 0 4.00769E-6
1-226334526-T-C c.1376-4A>G splice_region ACBD3 2 82950 2.41109E-5 41475 0 3.18492E-5
1-226334527-A-G c.1376-5T>C splice_region ACBD3 47 82942 5.66661E-4 41471 1 0.00125
1-226334528-A-C c.1376-6T>G splice_region ACBD3 2 82934 2.41156E-5 41467 0 8.24171E-6
1-226340040-TTCC-T p.Glu457del disruptive_inframe_deletion ACBD3 1 82746 1.20852E-5 41373 0 3.18512E-5
1-226340040-T-C p.Glu457Glu synonymous ACBD3 1 82746 1.20852E-5 41373 0 8.26009E-6
1-226340043-C-T p.Glu456Glu synonymous ACBD3 1 82824 1.20738E-5 41412 0 NA
1-226340046-C-G p.Glu455Asp missense ACBD3 39 82890 4.70503E-4 41445 0 0.00100705
1-226340049-G-A p.Asp454Asp synonymous ACBD3 1 82952 1.20552E-5 41476 0 6.25E-4
1-226340052-G-A p.Asp453Asp synonymous ACBD3 5 83018 6.02279E-5 41509 0 2.47276E-5
1-226340073-A-G p.His446His synonymous ACBD3 3 83176 3.60681E-5 41588 0 5.76644E-5
1-226340079-G-A p.Ser444Ser synonymous ACBD3 1 83190 1.20207E-5 41595 0 9.55414E-5
1-226340085-A-T p.Ala442Ala synonymous ACBD3 2 83220 2.40327E-5 41610 0 NA
1-226340119-AC-A p.Val431fs frameshift ACBD3 1 83328 1.20008E-5 41664 0 8.23655E-6
1-226340121-C-T p.Gly430Gly synonymous ACBD3 1 83344 1.19985E-5 41672 0 NA
1-226340133-G-A p.Asp426Asp synonymous ACBD3 12 83350 1.43971E-4 41675 0 0.00125
1-226340136-A-G p.Tyr425Tyr synonymous ACBD3 2 83352 2.39946E-5 41676 0 1.64737E-5
1-226340166-A-G p.Tyr415Tyr synonymous ACBD3 1 83346 1.19982E-5 41673 0 3.1841E-5
1-226340167-T-C p.Tyr415Cys missense ACBD3 2 83344 2.39969E-5 41672 0 NA
1-226340169-T-C p.Ser414Ser synonymous ACBD3 7 83346 8.39872E-5 41673 0 5.76559E-5
1-226340171-A-T p.Ser414Thr missense ACBD3 1 83342 1.19988E-5 41671 0 NA
1-226340184-G-A p.Thr409Thr synonymous ACBD3 4 83342 4.7995E-5 41671 0 NA
1-226340206-A-G p.Val402Ala missense ACBD3 1 83328 1.20008E-5 41664 0 6.36983E-5
1-226340215-C-T p.Arg399Gln missense ACBD3 3 83318 3.60066E-5 41659 0 NA
1-226340219-C-T p.Gly398Ser missense ACBD3 1 83314 1.20028E-5 41657 0 NA
1-226340231-C-T p.Val394Met missense ACBD3 2 83300 2.40096E-5 41650 0 1.48273E-4
1-226340232-G-A p.Ser393Ser synonymous ACBD3 15 83300 1.80072E-4 41650 0 6.68577E-4
1-226340233-G-GA p.Ser393fs frameshift ACBD3 1 83288 1.20065E-5 41644 0 NA
1-226340234-A-C p.Ser393Ala missense ACBD3 11 83302 1.3205E-4 41651 0 0.001875
1-226340238-T-A p.Ala391Ala synonymous ACBD3 26 83292 3.12155E-4 41646 0 0.0025
1-226340275-T-C p.Gln379Arg missense ACBD3 4 83266 4.80388E-5 41633 0 3.18431E-5
1-226340291-T-C p.Met374Val missense ACBD3 1 83252 1.20117E-5 41626 0 1.65033E-5
1-226340291-T-G p.Met374Leu missense ACBD3 2 83252 2.40234E-5 41626 0 NA
1-226340300-C-CTGCTAT p.Ala370_Ala371insIleAla conservative_inframe_insertion ACBD3 1 83216 1.20169E-5 41608 0 9.09151E-5
1-226340322-T-G c.1091-2A>C splice_acceptor ACBD3 1 83128 1.20296E-5 41564 0 NA
1-226342369-C-T p.Ala357Thr missense ACBD3 2 83034 2.40865E-5 41517 0 6.25E-4
1-226342371-T-G p.Glu356Ala missense ACBD3 24 83042 2.8901E-4 41521 0 4.45746E-4
1-226342376-T-C p.Ala354Ala synonymous ACBD3 1 83070 1.2038E-5 41535 0 NA
1-226342393-G-C p.Leu349Val missense ACBD3 1 83170 1.20236E-5 41585 0 1.64853E-5
1-226342402-C-T p.Glu346Lys missense ACBD3 10 83194 1.20201E-4 41597 0 4.12167E-5
1-226342404-G-C p.Ser345Cys missense ACBD3 1 83200 1.20192E-5 41600 0 NA
1-226342422-T-C p.Lys339Arg missense ACBD3 2 83276 2.40165E-5 41638 0 1.19446E-5
1-226342438-C-T p.Val334Ile missense ACBD3 1 83290 1.20062E-5 41645 0 6.36862E-5
1-226342446-A-G p.Met331Thr missense ACBD3 130 83284 0.00156092 41642 0 0.0030581
1-226342454-T-C p.Pro328Pro synonymous ACBD3 1 83290 1.20062E-5 41645 0 NA
1-226342462-T-C p.Thr326Ala missense ACBD3 5 83276 6.00413E-5 41638 0 1.59205E-4
1-226342464-G-A p.Ala325Val missense ACBD3 1 83266 1.20097E-5 41633 0 3.18573E-5
1-226342469-C-G p.Val323Val synonymous ACBD3 1 83264 1.201E-5 41632 0 NA
1-226342470-A-C p.Val323Gly missense ACBD3 2 83248 2.40246E-5 41624 0 NA
1-226342476-G-A p.Ser321Leu missense ACBD3 1 83250 1.2012E-5 41625 0 8.25137E-6
1-226342490-G-C p.Ser316Ser synonymous ACBD3 4 83220 4.80654E-5 41610 0 1.65552E-5
1-226342512-T-C p.Glu309Gly missense ACBD3 3 83030 3.61315E-5 41515 0 3.18634E-5
1-226342538-C-T c.904-4G>A splice_region ACBD3 4 82460 4.85084E-5 41230 0 4.17742E-6
1-226346877-TA-T c.903+7delT splice_region ACBD3 2 83306 2.40079E-5 41653 0 NA
1-226346880-C-T c.903+5G>A splice_region ACBD3 6 83310 7.20202E-5 41655 0 8.24647E-6
1-226346881-G-A c.903+4C>T splice_region ACBD3 3 83310 3.60101E-5 41655 0 4.38107E-5
1-226346888-T-C p.Gln300Gln synonymous ACBD3 1 83348 1.19979E-5 41674 0 3.18492E-5
1-226346925-T-G p.Tyr288Ser missense ACBD3 1 83374 1.19941E-5 41687 0 NA
1-226346955-C-T p.Arg278His missense ACBD3 1 83378 1.19936E-5 41689 0 7.95361E-6
1-226346956-G-A p.Arg278Cys missense ACBD3 1 83378 1.19936E-5 41689 0 7.95349E-6
1-226346973-T-C p.Gln272Arg missense ACBD3 2 83388 2.39843E-5 41694 0 NA
1-226346977-C-T p.Glu271Lys missense ACBD3 2 83384 2.39854E-5 41692 0 NA
1-226346996-T-C p.Gln264Gln synonymous ACBD3 1 83376 1.19939E-5 41688 0 3.1835E-5
1-226346997-T-A p.Gln264Leu missense ACBD3 1 83376 1.19939E-5 41688 0 NA
1-226346999-G-A p.Ala263Ala synonymous ACBD3 2 83380 2.39866E-5 41690 0 3.18492E-5
1-226347000-G-A p.Ala263Val missense ACBD3 1 83378 1.19936E-5 41689 0 NA
1-226347008-C-T p.Gln260Gln synonymous ACBD3 1 83376 1.19939E-5 41688 0 NA
1-226347011-C-T p.Gln259Gln synonymous ACBD3 1 83384 1.19927E-5 41692 0 3.18329E-5
1-226347022-C-T p.Val256Met missense ACBD3 7 83366 8.39671E-5 41683 0 1.27413E-4
1-226347023-G-A p.Ala255Ala synonymous ACBD3 1 83372 1.19944E-5 41686 0 8.24035E-6
1-226347033-G-A p.Ser252Phe missense ACBD3 2 83352 2.39946E-5 41676 0 5.96915E-5
1-226347059-C-G p.Lys243Asn missense+splice_region ACBD3 3 83244 3.60386E-5 41622 0 3.30699E-5
1-226347065-A-G c.729-6T>C splice_region ACBD3 1 83160 1.2025E-5 41580 0 NA
1-226349224-AAACTTACT-A p.Lys243fs frameshift ACBD3 1 80384 1.24403E-5 40192 0 NA
1-226349247-C-T p.Arg238Gln missense ACBD3 1 80420 1.24347E-5 40210 0 NA
1-226349254-TTTC-T p.Glu235del conservative_inframe_deletion ACBD3 4 80424 4.97364E-5 40212 0 2.41159E-5
1-226349267-C-T p.Arg231Arg synonymous ACBD3 1 80414 1.24356E-5 40207 0 NA
1-226349268-C-T p.Arg231Gln missense ACBD3 35 80422 4.35204E-4 40211 0 0.0025
1-226349272-TCCTTTCCTCTTCCTCCCGTCGAAG-T p.Leu222_Arg229del conservative_inframe_deletion ACBD3 1 80426 1.24338E-5 40213 0 8.24661E-6
1-226349280-T-C p.Glu227Gly missense ACBD3 1 80428 1.24335E-5 40214 0 3.18451E-5
1-226349285-C-T p.Glu225Glu synonymous ACBD3 3 80432 3.72986E-5 40216 0 3.18512E-5
1-226349289-C-T p.Arg224Gln missense ACBD3 2 80428 2.4867E-5 40214 0 3.18552E-5
1-226349290-G-A p.Arg224Trp missense ACBD3 1 80422 1.24344E-5 40211 0 1.65456E-5
1-226349297-C-T p.Arg221Arg synonymous ACBD3 3 80432 3.72986E-5 40216 0 2.8135E-5
1-226349303-CTCT-C p.Glu219del disruptive_inframe_deletion ACBD3 3 80424 3.73023E-5 40212 0 9.55657E-5
1-226349309-T-G p.Glu217Asp missense ACBD3 2 80426 2.48676E-5 40213 0 9.55231E-5
1-226349314-T-C p.Arg216Gly missense ACBD3 1 80426 1.24338E-5 40213 0 6.36983E-5
1-226349315-CCTA-C p.Arg215del disruptive_inframe_deletion ACBD3 6 80424 7.46046E-5 40212 0 6.36983E-5
1-226349319-C-T p.Arg214His missense ACBD3 6 80422 7.46065E-5 40211 0 6.25E-4
1-226349320-G-A p.Arg214Cys missense ACBD3 109 80422 0.00135535 40211 0 9.12563E-4
1-226349326-C-T p.Glu212Lys missense ACBD3 1 80418 1.2435E-5 40209 0 8.72935E-6
1-226349326-C-G p.Glu212Gln missense ACBD3 1 80418 1.2435E-5 40209 0 NA
1-226349331-T-C p.Glu210Gly missense ACBD3 2 80406 2.48738E-5 40203 0 8.95672E-6
1-226349339-C-T p.Leu207Leu synonymous ACBD3 3 80402 3.73125E-5 40201 0 NA
1-226349339-C-G p.Leu207Leu synonymous ACBD3 1 80402 1.24375E-5 40201 0 NA
1-226349341-G-A p.Leu207Leu synonymous ACBD3 1 80402 1.24375E-5 40201 0 NA
1-226349343-C-T p.Arg206His missense ACBD3 2 80394 2.48775E-5 40197 0 8.88784E-5
1-226349344-G-A p.Arg206Cys missense ACBD3 2 80388 2.48793E-5 40194 0 3.1902E-5
1-226349364-C-T p.Arg199His missense ACBD3 2 80382 2.48812E-5 40191 0 1.34539E-5
1-226349365-G-A p.Arg199Cys missense ACBD3 7 80378 8.70885E-5 40189 0 1.59612E-4
1-226349368-G-A p.Arg198Trp missense ACBD3 7 80380 8.70863E-5 40190 0 1.41467E-4
1-226349369-C-G p.Arg197Ser missense ACBD3 2 80378 2.48824E-5 40189 0 1.77903E-5
1-226349375-C-T p.Glu195Glu synonymous ACBD3 1 80372 1.24421E-5 40186 0 NA
1-226349390-C-T p.Arg190Arg splice_region+synonymous ACBD3 1 80348 1.24459E-5 40174 0 6.56307E-5
1-226352490-C-CT p.Arg190fs frameshift ACBD3 1 83118 1.20311E-5 41559 0 3.14967E-4
1-226352497-TT-GG p.GluLys187AspGln missense ACBD3 1 83150 1.20265E-5 41575 0 NA
1-226352498-T-G p.Glu187Asp missense ACBD3 48196 82116 0.586926 41058 14279 0.5889
1-226352498-T-TG p.Glu187fs frameshift ACBD3 1 83158 1.20253E-5 41579 0 NA
1-226352507-T-C p.Glu184Glu synonymous ACBD3 59 83232 7.08862E-4 41616 1 0.00553877
1-226352515-C-G p.Glu182Gln missense ACBD3 1 83270 1.20091E-5 41635 0 NA
1-226352518-T-A p.Ile181Leu missense ACBD3 1 83268 1.20094E-5 41634 0 3.18715E-5
1-226352520-T-C p.Lys180Arg missense ACBD3 1 83276 1.20083E-5 41638 0 NA
1-226352528-C-T p.Ala177Ala synonymous ACBD3 1 83266 1.20097E-5 41633 0 5.03525E-4
1-226352529-G-A p.Ala177Val missense ACBD3 1 83268 1.20094E-5 41634 0 4.02256E-6
1-226352569-G-C p.Leu164Val missense ACBD3 5 83300 6.0024E-5 41650 0 0.00100705
1-226352571-T-C p.Lys163Arg missense ACBD3 2 83300 2.40096E-5 41650 0 NA
1-226352574-A-C p.Val162Gly missense ACBD3 1 83294 1.20057E-5 41647 0 NA
1-226352587-T-C p.Met158Val missense ACBD3 1 83276 1.20083E-5 41638 0 NA
1-226352591-A-G p.Asp156Asp synonymous ACBD3 11 83254 1.32126E-4 41627 0 3.18613E-5
1-226352599-T-C p.Lys154Glu missense ACBD3 352 83216 0.00422996 41608 0 0.00856855
1-226352616-G-A p.Ala148Val missense ACBD3 2 82882 2.41307E-5 41441 0 NA
1-226352624-T-C p.Glu145Glu synonymous ACBD3 1 82476 1.21247E-5 41238 0 NA
1-226352627-T-TCTC p.Arg144dup disruptive_inframe_insertion ACBD3 2 82398 2.42724E-5 41199 1 NA
1-226352637-G-C c.429-7C>G splice_region ACBD3 1 81836 1.22196E-5 40918 0 NA
1-226353552-ACT-A c.428+6_428+7delAG splice_region ACBD3 1 83158 1.20253E-5 41579 0 8.27869E-6
1-226353552-A-G c.428+8T>C splice_region ACBD3 1 83158 1.20253E-5 41579 0 8.27869E-6
1-226353555-G-C c.428+5C>G splice_region ACBD3 1 83174 1.2023E-5 41587 0 4.17484E-6
1-226353572-C-T p.Gly139Glu missense ACBD3 1 83252 1.20117E-5 41626 0 NA
1-226353594-C-T p.Val132Ile missense ACBD3 4 83290 4.8025E-5 41645 0 8.23845E-6
1-226353641-T-G p.His116Pro missense ACBD3 1 83276 1.20083E-5 41638 0 3.9902E-6
1-226353652-A-G p.Leu112Leu synonymous ACBD3 2 83232 2.40292E-5 41616 0 0.00125
1-226353668-T-G p.Glu107Ala missense ACBD3 2 83186 2.40425E-5 41593 0 NA
1-226353670-A-G p.Tyr106Tyr synonymous ACBD3 1 83168 1.20239E-5 41584 0 1.6634E-5
1-226353673-A-C p.Thr105Thr synonymous ACBD3 1 83134 1.20288E-5 41567 0 NA
1-226353674-G-A p.Thr105Ile missense ACBD3 1 83128 1.20296E-5 41564 0 8.33333E-6
1-226353696-C-CTT p.Asp98fs frameshift ACBD3 1 82896 1.20633E-5 41448 0 NA
1-226353700-T-C p.Glu96Glu splice_region+synonymous ACBD3 1 82834 1.20723E-5 41417 0 NA
1-226353704-A-G c.287-3T>C splice_region ACBD3 1 82716 1.20896E-5 41358 0 1.80927E-5
1-226353708-G-A c.287-7C>T splice_region ACBD3 2 82626 2.42055E-5 41313 0 NA
1-226374107-T-G p.Ala90Ala synonymous ACBD3 2 71958 2.7794E-5 35979 0 NA
1-226374107-T-C p.Ala90Ala synonymous ACBD3 1 71958 1.3897E-5 35979 0 5.16573E-5
1-226374110-C-T p.Leu89Leu synonymous ACBD3 1 72084 1.38727E-5 36042 0 NA
1-226374116-G-A p.Tyr87Tyr synonymous ACBD3 3 71864 4.17455E-5 35932 0 5.0888E-5
1-226374118-A-G p.Tyr87His missense ACBD3 1 71904 1.39074E-5 35952 0 NA
1-226374122-C-G p.Glu85Asp missense ACBD3 2 71916 2.78102E-5 35958 0 4.36605E-4
1-226374139-C-T p.Gly80Ser missense ACBD3 1 71256 1.40339E-5 35628 0 NA
1-226374148-G-T p.Gln77Lys missense ACBD3 1 69532 1.43819E-5 34766 0 NA
1-226374162-G-C p.Ala72Gly missense ACBD3 1 67916 1.47241E-5 33958 0 NA
1-226374173-C-T p.Ala68Ala synonymous ACBD3 1 66440 1.50512E-5 33220 0 1.85874E-4
1-226374174-G-A p.Ala68Val missense ACBD3 1 66014 1.51483E-5 33007 0 NA
1-226374176-G-C p.Gly67Gly synonymous ACBD3 19 65698 2.89202E-4 32849 0 2.88739E-4
1-226374180-C-T p.Gly66Glu missense ACBD3 1 65888 1.51773E-5 32944 0 1.1258E-5
1-226374182-A-G p.Ala65Ala synonymous ACBD3 1 65464 1.52756E-5 32732 0 NA
1-226374188-C-G p.Ala63Ala synonymous ACBD3 2 64192 3.11565E-5 32096 0 2.33552E-5
1-226374203-G-A p.Pro58Pro synonymous ACBD3 2 61204 3.26776E-5 30602 0 NA
1-226374217-A-G p.Ser54Pro missense ACBD3 1 58044 1.72283E-5 29022 0 5.56638E-5
1-226374220-C-T p.Ala53Thr missense ACBD3 1 56082 1.7831E-5 28041 0 3.20616E-5
1-226374225-G-A p.Pro51Leu missense ACBD3 1 55170 1.81258E-5 27585 0 NA
1-226374232-G-C p.Arg49Gly missense ACBD3 1 54220 1.84434E-5 27110 0 3.20657E-5
1-226374234-C-A p.Gly48Val missense ACBD3 1 54180 1.8457E-5 27090 0 NA
1-226374243-G-C p.Pro45Arg missense ACBD3 1 53332 1.87505E-5 26666 0 NA
1-226374266-T-A p.Pro37Pro synonymous ACBD3 4 50450 7.92864E-5 25225 0 6.4119E-5
1-226374292-C-T p.Ala29Thr missense ACBD3 1 51456 1.94341E-5 25728 0 NA
1-226374297-G-T p.Pro27His missense ACBD3 2 51786 3.86205E-5 25893 0 6.39345E-5
1-226374302-C-T p.Glu25Glu synonymous ACBD3 2 52056 3.84202E-5 26028 0 NA
1-226374307-C-G p.Glu24Gln missense ACBD3 3 52564 5.70733E-5 26282 0 1.18206E-5
1-226374308-C-T p.Pro23Pro synonymous ACBD3 2 52412 3.81592E-5 26206 0 NA
1-226374314-C-T p.Pro21Pro synonymous ACBD3 1 53226 1.87878E-5 26613 0 NA
1-226374335-G-A p.Val14Val synonymous ACBD3 1 53072 1.88423E-5 26536 0 NA
1-226374347-G-C p.Leu10Leu synonymous ACBD3 3 52552 5.70863E-5 26276 0 7.40741E-4
1-226374356-T-A p.Ala7Ala synonymous ACBD3 255 52184 0.00488656 26092 2 0.0126404
1-226374381-G-A c.-5C>T 5_prime_UTR_premature_start_codon_gain ACBD3 2 50010 3.9992E-5 25005 0 3.18959E-5