Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-152990679-A-T c.-43A>T 5_prime_UTR_premature_start_codon_gain ABCD1 4 49194 8.13107E-5 24597 1 9.24984E-5
X-152990730-G-A p.Val3Val synonymous ABCD1 2 57136 3.50042E-5 28568 0 NA
X-152990759-A-C p.Asn13Thr missense ABCD1 70 60296 0.00116094 30148 14 0.00522326
X-152990761-A-G p.Thr14Ala missense ABCD1 8 60570 1.32079E-4 30285 2 2.82247E-4
X-152990762-C-G p.Thr14Arg missense ABCD1 14 60662 2.30787E-4 30331 2 4.16223E-4
X-152990771-G-A p.Arg17His missense ABCD1 14 61406 2.27991E-4 30703 4 0.00253807
X-152990775-G-A p.Thr18Thr synonymous ABCD1 8 61844 1.29358E-4 30922 1 9.26655E-5
X-152990776-G-T p.Ala19Ser missense ABCD1 4 62150 6.43604E-5 31075 0 9.26183E-5
X-152990788-G-A p.Ala23Thr missense ABCD1 2 63416 3.15378E-5 31708 1 NA
X-152990798-C-G p.Ala26Gly missense ABCD1 1 64502 1.55034E-5 32251 0 NA
X-152990807-C-T p.Ala29Val missense ABCD1 2 65392 3.05848E-5 32696 1 NA
X-152990813-A-G p.Lys31Arg missense ABCD1 3 65980 4.54683E-5 32990 1 1.08295E-4
X-152990821-C-T p.Pro34Ser missense ABCD1 4 66744 5.99305E-5 33372 1 2.32234E-4
X-152990829-G-A p.Val36Val synonymous ABCD1 1 66772 1.49763E-5 33386 0 2.35571E-4
X-152990843-C-T p.Ala41Val missense ABCD1 1 67854 1.47375E-5 33927 0 NA
X-152990846-C-T p.Pro42Leu missense ABCD1 2 68096 2.93703E-5 34048 0 2.32342E-5
X-152990864-C-T p.Ala48Val missense ABCD1 1 68958 1.45016E-5 34479 0 9.23532E-5
X-152990895-C-T p.Ser58Ser synonymous ABCD1 1 73028 1.36934E-5 36514 0 NA
X-152990899-G-C p.Val60Leu missense ABCD1 5 73408 6.81125E-5 36704 1 NA
X-152990902-G-A p.Ala61Thr missense ABCD1 10 73576 1.35914E-4 36788 2 7.1736E-4
X-152990902-G-T p.Ala61Ser missense ABCD1 1 73578 1.3591E-5 36789 0 NA
X-152990906-C-T p.Ala62Val missense ABCD1 1 74400 1.34409E-5 37200 0 8.8614E-6
X-152990929-G-C p.Val70Leu missense ABCD1 14 77746 1.80074E-4 38873 4 0.0035791
X-152990934-C-T p.Phe71Phe synonymous ABCD1 2 78054 2.56233E-5 39027 1 NA
X-152990939-A-G p.Gln73Arg missense ABCD1 1 78298 1.27717E-5 39149 0 NA
X-152990946-C-T p.Leu75Leu synonymous ABCD1 3 78726 3.81069E-5 39363 1 1.36249E-4
X-152990962-C-G p.Leu81Val missense ABCD1 3 78098 3.84133E-5 39049 1 1.7497E-5
X-152990970-C-T p.Phe83Phe synonymous ABCD1 18 78430 2.29504E-4 39215 3 0.00573477
X-152990979-C-T p.Val86Val synonymous ABCD1 72 78234 9.20316E-4 39117 11 0.00271041
X-152990987-G-A p.Arg89Gln missense ABCD1 2 78402 2.55096E-5 39201 1 9.19963E-5
X-152990993-C-T p.Thr91Met missense ABCD1 3 78614 3.81611E-5 39307 1 NA
X-152990995-G-A p.Gly92Arg missense ABCD1 18 78774 2.28502E-4 39387 2 6.98812E-4
X-152991066-C-T p.Asp115Asp synonymous ABCD1 1 79968 1.2505E-5 39984 0 6.03653E-6
X-152991080-G-A p.Arg120His missense ABCD1 1 80274 1.24573E-5 40137 0 1.76215E-5
X-152991087-C-T p.Ile122Ile synonymous ABCD1 2 80712 2.47795E-5 40356 1 5.82357E-6
X-152991092-G-T p.Arg124Leu missense ABCD1 2 80880 2.4728E-5 40440 1 NA
X-152991095-A-G p.Lys125Arg missense ABCD1 1 81094 1.23314E-5 40547 0 NA
X-152991113-G-T p.Gly131Val missense ABCD1 9 81690 1.10173E-4 40845 4 1.49519E-4
X-152991115-T-C p.Trp132Arg missense ABCD1 3 81760 3.66928E-5 40880 1 NA
X-152991141-C-A p.Ile140Ile synonymous ABCD1 16 81848 1.95484E-4 40924 4 1.35374E-4
X-152991145-C-G p.Leu142Val missense ABCD1 3 82000 3.65854E-5 41000 1 4.53885E-5
X-152991157-T-A p.Phe146Ile missense ABCD1 2 82146 2.43469E-5 41073 0 2.10294E-4
X-152991166-A-G p.Ser149Gly missense ABCD1 2 82252 2.43155E-5 41126 1 NA
X-152991192-A-G p.Gln157Gln synonymous ABCD1 141 82424 0.00171067 41212 29 0.00443098
X-152991193-C-G p.Leu158Val missense ABCD1 3 82428 3.63954E-5 41214 1 1.20041E-5
X-152991214-C-T p.Arg165Cys missense ABCD1 8 82404 9.70827E-5 41202 2 1.64498E-5
X-152991215-G-A p.Arg165His missense ABCD1 1 82404 1.21353E-5 41202 0 NA
X-152991225-C-G p.Ala168Ala synonymous ABCD1 10 82430 1.21315E-4 41215 2 7.12837E-5
X-152991235-C-T p.Arg172Cys missense ABCD1 1 82494 1.21221E-5 41247 0 1.16263E-5
X-152991236-G-A p.Arg172His missense ABCD1 2 82470 2.42512E-5 41235 0 9.0371E-5
X-152991249-C-G p.Ser176Ser synonymous ABCD1 1 82582 1.21092E-5 41291 0 4.51896E-5
X-152991258-C-T p.Thr179Thr synonymous ABCD1 1 82554 1.21133E-5 41277 0 1.15513E-5
X-152991270-C-T p.Val183Val synonymous ABCD1 1 82518 1.21186E-5 41259 0 NA
X-152991283-G-A p.Gly188Arg missense ABCD1 8 82476 9.69979E-5 41238 3 0.001875
X-152991292-C-T p.Arg191Cys missense ABCD1 1 82408 1.21347E-5 41204 0 1.15126E-5
X-152991321-C-T p.Asp200Asp synonymous ABCD1 3 81936 3.66139E-5 40968 0 6.25E-4
X-152991322-G-A p.Val201Met missense ABCD1 26 81940 3.17305E-4 40970 7 3.17576E-4
X-152991336-G-A p.Ala205Ala synonymous ABCD1 4 81608 4.90148E-5 40804 1 6.88231E-4
X-152991384-C-T p.Asp221Asp synonymous ABCD1 3 82206 3.64937E-5 41103 1 5.53309E-6
X-152991394-A-G p.Thr225Ala missense ABCD1 1 82182 1.21681E-5 41091 0 5.54001E-6
X-152991410-T-G p.Leu230Arg missense ABCD1 1 82016 1.21927E-5 41008 0 NA
X-152991412-C-T p.Arg231Trp missense ABCD1 1 81888 1.22118E-5 40944 0 3.15884E-4
X-152991417-G-T p.Ala232Ala synonymous ABCD1 179 81702 0.00219089 40851 35 0.00357353
X-152991417-G-A p.Ala232Ala synonymous ABCD1 1 81716 1.22375E-5 40858 0 5.91345E-5
X-152991422-G-A p.Arg234His missense ABCD1 3 81632 3.67503E-5 40816 0 4.52039E-5
X-152991428-G-A p.Arg236His missense ABCD1 167 81598 0.00204662 40799 33 0.0014202
X-152991433-G-A p.Ala238Thr missense ABCD1 1 81508 1.22687E-5 40754 0 1.21518E-5
X-152991435-C-A p.Ala238Ala synonymous ABCD1 2 81468 2.45495E-5 40734 0 NA
X-152991435-C-G p.Ala238Ala synonymous ABCD1 2 81468 2.45495E-5 40734 1 NA
X-152991456-C-T p.Ala245Ala synonymous ABCD1 2 81154 2.46445E-5 40577 1 1.3164E-5
X-152991463-G-A p.Gly248Ser missense ABCD1 3 81072 3.70041E-5 40536 1 4.0959E-5
X-152991477-C-A p.Phe252Leu missense ABCD1 2 80968 2.47011E-5 40484 1 1.15836E-5
X-152991478-C-G p.Leu253Val missense ABCD1 70 80980 8.64411E-4 40490 10 0.0013553
X-152991489-C-T p.Asn256Asn synonymous ABCD1 1 80752 1.23836E-5 40376 0 9.00333E-5
X-152991496-C-T p.Arg259Trp missense ABCD1 1 80418 1.2435E-5 40209 0 1.87677E-5
X-152991497-G-A p.Arg259Gln missense ABCD1 2 80370 2.48849E-5 40185 1 1.88062E-5
X-152991506-C-T p.Ser262Leu missense ABCD1 2 80020 2.49938E-5 40010 1 NA
X-152991507-G-A p.Ser262Ser synonymous ABCD1 2 79898 2.50319E-5 39949 0 6.46437E-6
X-152991538-G-T p.Ala273Ser missense ABCD1 1 77920 1.28337E-5 38960 0 NA
X-152991541-C-T p.Arg274Trp missense ABCD1 2 77020 2.59673E-5 38510 0 6.43791E-5
X-152991545-G-A p.Arg275Gln missense ABCD1 3 76194 3.93732E-5 38097 1 6.25E-4
X-152991553-G-C p.Glu278Gln missense ABCD1 2 74886 2.67073E-5 37443 1 NA
X-152991574-C-T p.Arg285Cys missense ABCD1 2 68948 2.90074E-5 34474 0 NA
X-152991575-G-A p.Arg285His missense ABCD1 3 68856 4.35692E-5 34428 0 4.53885E-5
X-152991590-C-T p.Ser290Leu missense ABCD1 1 64480 1.55087E-5 32240 0 NA
X-152991591-G-A p.Ser290Ser synonymous ABCD1 1 64420 1.55231E-5 32210 0 1.36482E-4
X-152991616-C-T p.His299Tyr missense ABCD1 13 55692 2.33427E-4 27846 3 6.39211E-4
X-152991617-A-G p.His299Arg missense ABCD1 3 55412 5.41399E-5 27706 1 0.0021322
X-152994682-C-T c.901-5C>T splice_region ABCD1 15 80918 1.85373E-4 40459 5 2.51943E-4
X-152994698-C-T p.Ala304Ala synonymous ABCD1 1 81574 1.22588E-5 40787 0 NA
X-152994698-C-G p.Ala304Ala synonymous ABCD1 1 81574 1.22588E-5 40787 0 NA
X-152994699-C-G p.Leu305Val missense ABCD1 1 81646 1.2248E-5 40823 0 NA
X-152994730-C-T p.Ser315Leu missense ABCD1 2 82454 2.42559E-5 41227 1 3.42912E-5
X-152994731-G-A p.Ser315Ser synonymous ABCD1 14 82462 1.69775E-4 41231 2 3.65464E-4
X-152994753-G-A p.Glu323Lys missense ABCD1 1 82730 1.20875E-5 41365 0 NA
X-152994757-G-A p.Arg324His missense ABCD1 1 82740 1.20861E-5 41370 0 1.14159E-5
X-152994760-T-C p.Leu325Pro missense ABCD1 2 82758 2.41668E-5 41379 1 NA
X-152994807-G-A p.Ala341Thr missense ABCD1 2 82532 2.4233E-5 41266 1 1.14172E-5
X-152994815-C-T p.Gly343Gly synonymous ABCD1 3 82486 3.63698E-5 41243 1 NA
X-152994833-C-A p.Val349Val synonymous ABCD1 13 82262 1.58032E-4 41131 2 9.9474E-4
X-152994840-A-G p.Ile352Val missense ABCD1 1 82056 1.21868E-5 41028 0 NA
X-152994847-C-T p.Ala354Val missense ABCD1 7 81900 8.54701E-5 40950 3 NA
X-152994857-C-T p.Tyr357Tyr synonymous ABCD1 2 81498 2.45405E-5 40749 1 5.47663E-6
X-152994858-T-C p.Ser358Pro missense ABCD1 1 81434 1.22799E-5 40717 0 1.15162E-5
X-152994863-G-A p.Glu359Glu synonymous ABCD1 1 81220 1.23122E-5 40610 0 5.48234E-6
X-152994867-G-GATGCAGAGGCC p.Gly176fs frameshift ABCD1 1 81000 1.23457E-5 40500 0 NA
X-152994878-G-A p.Gln179Gln synonymous ABCD1 2 80596 2.48151E-5 40298 1 NA
X-152994888-A-T p.Arg183Trp missense ABCD1 2 80356 2.48892E-5 40178 0 NA
X-152994920-G-A p.Pro193Pro synonymous ABCD1 24 78136 3.07157E-4 39068 5 3.21519E-4
X-152994937-C-T p.Thr199Met missense ABCD1 3 76820 3.90523E-5 38410 0 1.16793E-4
X-152994943-C-T p.Ala201Val missense ABCD1 3 76124 3.94094E-5 38062 1 6.25E-4
X-152994953-C-G p.Ser204Arg missense ABCD1 1 75632 1.32219E-5 37816 0 NA
X-152994957-C-T p.Pro206Ser missense ABCD1 7 75270 9.29985E-5 37635 1 8.78735E-5
X-152994959-C-T p.Pro206Pro synonymous ABCD1 335 74888 0.00447335 37444 56 0.00747726
X-152994960-G-A p.Ala207Thr missense ABCD1 6 74622 8.04052E-5 37311 2 6.28931E-5
X-152994962-C-T p.Ala207Ala synonymous ABCD1 18 74500 2.41611E-4 37250 0 1.29395E-4
X-152994963-G-A p.Ala208Thr missense ABCD1 4 74246 5.3875E-5 37123 1 1.73292E-4
X-152994965-C-T p.Ala208Ala synonymous ABCD1 1 74442 1.34333E-5 37221 0 6.85518E-5
X-152994967-A-C p.His209Pro missense ABCD1 1 74136 1.34887E-5 37068 0 7.67265E-6
X-152994976-G-A p.Cys212Tyr missense ABCD1 2 73244 2.7306E-5 36622 0 4.70677E-5
X-152994987-C-T p.Arg216* stop_gained ABCD1 3 71326 4.20604E-5 35663 0 6.91133E-5
X-152994988-G-A p.Arg216Gln missense ABCD1 2 71176 2.80994E-5 35588 1 8.96941E-6
X-152994992-C-T p.Gly217Gly synonymous ABCD1 1 70480 1.41884E-5 35240 0 2.75E-5
X-152994994-C-T p.Pro218Leu missense ABCD1 11 70432 1.56179E-4 35216 0 0.00125
X-153000807-C-T p.Ser3Phe missense ABCD1 1 52016 1.92249E-5 26008 0 4.55539E-5
X-153000823-A-G p.Pro8Pro synonymous ABCD1 4 52004 7.69172E-5 26002 2 NA
X-153000868-C-T p.Ile23Ile synonymous ABCD1 1 51844 1.92886E-5 25922 0 NA
X-153000884-TATC-T c.82+4_82+6delATC splice_region ABCD1 1 51634 1.93671E-5 25817 0 NA
X-153001565-G-A c.1082-1G>A splice_acceptor ABCD1 2 75804 2.63838E-5 37902 1 NA
X-153001566-A-G p.Asp361Gly missense+splice_region ABCD1 1 75740 1.32031E-5 37870 0 2.20226E-5
X-153001576-C-G p.Ala364Ala synonymous ABCD1 1 77008 1.29857E-5 38504 0 1.6473E-5
X-153001576-C-T p.Ala364Ala synonymous ABCD1 1 77008 1.29857E-5 38504 0 4.5438E-5
X-153001577-G-A p.Val365Met missense ABCD1 5 76750 6.51466E-5 38375 2 4.69142E-5
X-153001578-T-A p.Val365Glu missense ABCD1 2 77224 2.58987E-5 38612 1 5.48591E-6
X-153001601-A-G p.Lys373Glu missense ABCD1 7 79420 8.8139E-5 39710 1 2.7361E-4
X-153001609-G-A p.Glu375Glu synonymous ABCD1 2 79854 2.50457E-5 39927 0 7.10068E-5
X-153001610-G-C p.Glu376Gln missense ABCD1 2 79888 2.5035E-5 39944 0 4.55664E-5
X-153001625-C-T p.Arg381Cys missense ABCD1 2 80636 2.48028E-5 40318 0 9.17768E-5
X-153001643-A-G p.Ile387Val missense ABCD1 2 81768 2.44594E-5 40884 1 NA
X-153001663-A-G p.Thr393Thr synonymous ABCD1 3 82264 3.6468E-5 41132 1 5.4542E-6
X-153001666-G-A p.Ala394Ala synonymous ABCD1 15 82274 1.82318E-4 41137 4 1.14536E-5
X-153001668-C-T p.Ala395Val missense ABCD1 2 82320 2.42954E-5 41160 0 NA
X-153001669-T-C p.Ala395Ala synonymous ABCD1 2 82378 2.42783E-5 41189 1 5.45378E-6
X-153001695-C-G p.Ser404Trp missense ABCD1 1 82442 1.21297E-5 41221 0 NA
X-153001696-G-A p.Ser404Ser synonymous ABCD1 3 82424 3.63972E-5 41212 1 2.28972E-5
X-153001699-G-A p.Ser405Ser synonymous ABCD1 14 82440 1.6982E-4 41220 4 1.83849E-4
X-153001706-GAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTC-G p.Glu408fs frameshift ABCD1 7 82444 8.49061E-5 41222 1 NA
X-153001819-C-T p.Tyr415Tyr synonymous ABCD1 5 82518 6.05928E-5 41259 2 1.37985E-4
X-153001823-G-T p.Ala417Ser missense ABCD1 2 82484 2.42471E-5 41242 0 NA
X-153001831-G-A p.Val419Val synonymous ABCD1 1 82500 1.21212E-5 41250 0 NA
X-153001834-C-A p.His420Gln missense ABCD1 2 82536 2.42319E-5 41268 1 3.8224E-5
X-153001835-G-A p.Glu421Lys missense ABCD1 5 82538 6.05782E-5 41269 1 5.46009E-6
X-153001847-G-A p.Val425Ile missense ABCD1 2 82576 2.42201E-5 41288 0 1.15089E-5
X-153001849-A-G p.Val425Val synonymous ABCD1 1 82600 1.21065E-5 41300 0 NA
X-153001864-G-A p.Gln430Gln synonymous ABCD1 2 82684 2.41885E-5 41342 0 NA
X-153001873-C-T p.His433His synonymous ABCD1 1 82660 1.20978E-5 41330 0 1.15326E-5
X-153001876-C-T p.Phe434Phe synonymous ABCD1 3 82662 3.62924E-5 41331 1 NA
X-153001891-G-A p.Glu439Glu synonymous ABCD1 1 82640 1.21007E-5 41320 0 1.15711E-5
X-153001901-G-A p.Ala443Thr missense ABCD1 1 82610 1.21051E-5 41305 0 2.32191E-5
X-153001908-C-T p.Ala445Val missense ABCD1 1 82558 1.21127E-5 41279 0 1.64156E-5
X-153001920-C-A p.Thr449Asn missense ABCD1 1 82446 1.21292E-5 41223 0 NA
X-153001928-C-T p.Arg452Trp missense ABCD1 9 82316 1.09335E-4 41158 2 6.25E-4
X-153001932-C-T p.Ser453Phe missense ABCD1 3 82312 3.64467E-5 41156 0 NA
X-153001941-G-A p.Arg456His missense ABCD1 3 82118 3.65328E-5 41059 1 6.02969E-5
X-153001941-G-C p.Arg456Pro missense ABCD1 1 82118 1.21776E-5 41059 0 5.49916E-6
X-153001965-G-A p.Arg464Gln missense+splice_region ABCD1 4 81370 4.91582E-5 40685 2 6.25E-4
X-153002606-T-C c.1394-5T>C splice_region ABCD1 2 81436 2.45592E-5 40718 0 1.19656E-5
X-153002616-G-A p.Val467Met missense ABCD1 16 81698 1.95843E-4 40849 6 1.1849E-5
X-153002621-G-A p.Val468Val synonymous ABCD1 2 81734 2.44696E-5 40867 1 1.1814E-5
X-153002632-A-G p.Gln472Arg missense ABCD1 1 81854 1.22169E-5 40927 0 NA
X-153002644-G-T p.Cys476Phe missense ABCD1 1 81802 1.22246E-5 40901 0 NA
X-153002657-C-A p.Pro480Pro synonymous ABCD1 3 81764 3.6691E-5 40882 1 1.09915E-5
X-153002660-C-T p.Ile481Ile synonymous ABCD1 2 81656 2.4493E-5 40828 1 5.9124E-5
X-153002666-G-A p.Thr483Thr synonymous ABCD1 2 81498 2.45405E-5 40749 1 NA
X-153002672-A-C p.Ser485Ser synonymous ABCD1 11 81372 1.35182E-4 40686 2 9.08637E-5
X-153002673-G-A p.Gly486Arg missense ABCD1 2 81390 2.4573E-5 40695 1 2.75932E-5
X-153002674-G-A p.Gly486Glu missense ABCD1 1 81338 1.22944E-5 40669 0 NA
X-153002690-C-G p.Ala491Ala synonymous ABCD1 1 81050 1.23381E-5 40525 0 NA
X-153002702-C-T p.Ile495Ile synonymous ABCD1 2 80606 2.4812E-5 40303 1 4.54752E-5
X-153002704-G-C p.Arg496Thr missense+splice_region ABCD1 6 80550 7.44879E-5 40275 2 1.24449E-5
X-153005575-A-T p.Thr506Thr synonymous ABCD1 11 82536 1.33275E-4 41268 3 1.64617E-5
X-153005590-C-T p.Cys511Cys synonymous ABCD1 9 82590 1.08972E-4 41295 2 2.74525E-5
X-153005596-G-A p.Lys513Lys synonymous ABCD1 1 82656 1.20983E-5 41328 0 4.55872E-5
X-153005599-C-T p.Ser514Ser synonymous ABCD1 2 82642 2.42008E-5 41321 1 1.64527E-5
X-153005605-G-A p.Leu516Leu synonymous ABCD1 7677 82530 0.0930207 41265 2121 0.0991629
X-153005624-C-A p.Leu523Ile missense ABCD1 1 82702 1.20916E-5 41351 0 4.566E-5
X-153005638-C-T p.Tyr527Tyr synonymous ABCD1 47 82660 5.68594E-4 41330 12 3.65047E-4
X-153005639-G-A p.Gly528Ser missense ABCD1 3 82670 3.62889E-5 41335 1 6.25E-4
X-153005654-A-C p.Lys533Gln missense ABCD1 1 82658 1.2098E-5 41329 0 1.14734E-5
X-153005670-G-A p.Arg538His missense ABCD1 1 82374 1.21398E-5 41187 0 1.1454E-5
X-153005671-C-T p.Arg538Arg synonymous ABCD1 1 82380 1.21389E-5 41190 0 NA
X-153005672-A-T p.Met539Leu missense ABCD1 2 82354 2.42854E-5 41177 0 5.47097E-6
X-153005685-CGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCT-C p.Gln544_Arg545del splice_donor ABCD1 3 81900 3.663E-5 40950 0 NA
X-153005686-G-A p.Pro543Pro synonymous ABCD1 1 81832 1.22202E-5 40916 0 4.56934E-5
X-153006022-C-T c.1635-6C>T splice_region ABCD1 2 79364 2.52003E-5 39682 0 9.17053E-5
X-153006028-G-A p.Arg545Arg splice_region+synonymous ABCD1 2 79480 2.51636E-5 39740 1 5.46834E-6
X-153006046-C-T p.Gly551Gly synonymous ABCD1 1 79862 1.25216E-5 39931 0 1.14801E-5
X-153006073-G-A p.Pro560Pro synonymous ABCD1 1 79986 1.25022E-5 39993 0 2.29092E-5
X-153006109-G-A p.Ser572Ser synonymous ABCD1 2 79842 2.50495E-5 39921 1 1.63865E-5
X-153006125-G-A p.Ala578Thr missense ABCD1 1 79774 1.25354E-5 39887 0 6.87332E-5
X-153006137-G-A p.Val582Ile missense ABCD1 2 79554 2.51402E-5 39777 1 0.15671
X-153006141-T-C p.Val583Ala missense ABCD1 2 79504 2.5156E-5 39752 1 3.80572E-4
X-153006166-G-A p.Arg591Arg synonymous ABCD1 2 79272 2.52296E-5 39636 1 NA
X-153006177-G-A c.1780+4G>A splice_region ABCD1 8 79014 1.01248E-4 39507 1 3.0221E-4
X-153008434-C-T c.1781-7C>T splice_region ABCD1 1 78948 1.26666E-5 39474 0 1.66493E-4
X-153008436-C-G c.1781-5C>G splice_region ABCD1 13 79004 1.64549E-4 39502 4 9.0371E-5
X-153008450-C-G p.Ala597Gly missense ABCD1 2 79234 2.52417E-5 39617 0 3.09234E-5
X-153008454-G-T p.Met598Ile missense ABCD1 1 79332 1.26053E-5 39666 0 5.92874E-5
X-153008470-G-A p.Val604Ile missense ABCD1 79 79450 9.94336E-4 39725 15 0.00109094
X-153008478-G-A p.Ser606Ser synonymous ABCD1 25 79522 3.14378E-4 39761 4 3.61778E-4
X-153008483-G-A p.Gly608Asp missense ABCD1 1 79490 1.25802E-5 39745 0 0.128496
X-153008484-C-T p.Gly608Gly synonymous ABCD1 3 79460 3.77548E-5 39730 1 0.00318725
X-153008499-C-T p.Ile613Ile synonymous ABCD1 2 79428 2.518E-5 39714 1 4.99775E-5
X-153008500-G-A p.Gly614Ser missense ABCD1 7 79388 8.81745E-5 39694 2 1.35863E-4
X-153008512-A-G p.Met618Val missense ABCD1 2 79304 2.52194E-5 39652 0 NA
X-153008533-C-T c.1865+8C>T splice_region ABCD1 2 79104 2.52832E-5 39552 1 3.12872E-5
X-153008670-C-T c.1866-5C>T splice_region ABCD1 2 78956 2.53306E-5 39478 0 1.80206E-5
X-153008672-C-T c.1866-3C>T splice_region ABCD1 1 79054 1.26496E-5 39527 0 NA
X-153008684-C-T p.Tyr625Tyr synonymous ABCD1 1 79336 1.26046E-5 39668 0 NA
X-153008702-C-T p.Cys631Cys synonymous ABCD1 1 79698 1.25474E-5 39849 0 5.69853E-6
X-153008708-C-T p.Ser633Ser synonymous ABCD1 43 79750 5.39185E-4 39875 15 3.05447E-4
X-153008711-C-T p.Ala634Ala synonymous ABCD1 10 79810 1.25298E-4 39905 3 0.00153728
X-153008712-G-A p.Val635Met missense ABCD1 1 79874 1.25197E-5 39937 0 NA
X-153008720-C-T p.Ile637Ile synonymous ABCD1 2 79882 2.50369E-5 39941 1 1.77001E-5
X-153008721-G-A p.Asp638Asn missense ABCD1 1 79902 1.25153E-5 39951 0 NA
X-153008723-C-T p.Asp638Asp synonymous ABCD1 2 79886 2.50357E-5 39943 1 0.0038432
X-153008724-G-A p.Val639Met missense ABCD1 2 79858 2.50445E-5 39929 0 3.61592E-5
X-153008734-A-G p.Lys642Arg missense ABCD1 2 79914 2.50269E-5 39957 1 NA
X-153008746-C-A p.Ala646Glu missense ABCD1 2 79724 2.50865E-5 39862 1 NA
X-153008747-G-A p.Ala646Ala synonymous ABCD1 1 79732 1.2542E-5 39866 0 9.18907E-5
X-153008758-C-T p.Ala650Val missense ABCD1 3 79596 3.76903E-5 39798 1 NA
X-153008758-C-G p.Ala650Gly missense ABCD1 1 79596 1.25634E-5 39798 0 NA
X-153008759-G-A p.Ala650Ala synonymous ABCD1 2 79584 2.51307E-5 39792 0 0.0124514
X-153008769-C-T p.Leu654Leu synonymous ABCD1 8 79404 1.00751E-4 39702 3 NA
X-153008801-G-GAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGC c.1991+1_1991+2insAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGC splice_donor ABCD1 2 78308 2.55402E-5 39154 1 NA
X-153008801-G-GAAA c.1991+1_1991+2insAAA splice_donor ABCD1 3 78308 3.83103E-5 39154 1 NA
X-153008805-G-T c.1991+5G>T splice_region ABCD1 2 78134 2.55971E-5 39067 1 3.47331E-5
X-153008935-C-T c.1992-8C>T splice_region ABCD1 4 77918 5.1336E-5 38959 0 NA
X-153008945-A-C p.Lys665Thr missense+splice_region ABCD1 1 78134 1.27985E-5 39067 0 5.91712E-6
X-153008970-C-T p.Phe673Phe synonymous ABCD1 1319 78232 0.0168601 39116 343 0.0289063
X-153008983-G-A p.Gly678Ser missense ABCD1 3 78472 3.82302E-5 39236 1 4.58379E-5
X-153008994-C-T p.Phe681Phe synonymous ABCD1 30 78512 3.82107E-4 39256 9 7.66871E-4
X-153008994-C-G p.Phe681Leu missense ABCD1 3 78516 3.82088E-5 39258 1 2.02963E-4
X-153008995-G-C p.Glu682Gln missense ABCD1 7 78526 8.91424E-5 39263 1 7.33797E-5
X-153009016-C-T p.Arg689Cys missense ABCD1 2 78392 2.55128E-5 39196 0 6.96072E-5
X-153009023-G-C p.Ser691Thr missense ABCD1 2 78362 2.55226E-5 39181 1 0.00152091
X-153009030-G-A p.Thr693Thr synonymous ABCD1 7 78266 8.94386E-5 39133 1 2.38118E-4
X-153009044-G-A p.Arg698Gln missense ABCD1 2 77924 2.5666E-5 38962 1 1.3211E-5
X-153009063-G-A p.Ala704Ala synonymous ABCD1 44 77264 5.69476E-4 38632 11 6.72043E-4
X-153009085-C-T p.Arg712Cys missense ABCD1 1 76338 1.30996E-5 38169 0 0.00131752
X-153009108-C-G p.Ile719Met missense ABCD1 1 75458 1.32524E-5 37729 0 NA
X-153009114-C-T p.Gly721Gly synonymous ABCD1 1 74806 1.33679E-5 37403 0 NA
X-153009124-G-A p.Ala725Thr missense ABCD1 1 74036 1.35069E-5 37018 0 6.58848E-5
X-153009127-CCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCT-C p.Ala727fs frameshift ABCD1 1 74018 1.35102E-5 37009 0 NA
X-153009130-G-A p.Ala727Thr missense ABCD1 1 73770 1.35556E-5 36885 0 NA
X-153009131-C-T p.Ala727Val missense ABCD1 1 73600 1.3587E-5 36800 0 8.52871E-6
X-153009132-G-A p.Ala727Ala synonymous ABCD1 2 73530 2.71998E-5 36765 1 2.58851E-5
X-153009139-C-T p.Pro730Ser missense ABCD1 1 73124 1.36754E-5 36562 0 NA
X-153009140-C-G p.Pro730Arg missense ABCD1 1 73006 1.36975E-5 36503 0 9.45537E-5
X-153009140-C-T p.Pro730Leu missense ABCD1 2 73006 2.7395E-5 36503 0 7.79241E-5
X-153009141-G-A p.Pro730Pro synonymous ABCD1 86 72918 0.00117941 36459 18 0.00520833
X-153009142-G-A p.Ala731Thr missense ABCD1 1 72772 1.37415E-5 36386 0 NA
X-153009152-C-T p.Pro734Leu missense ABCD1 1 71854 1.39171E-5 35927 0 6.5189E-4
X-153009152-C-G p.Pro734Arg missense ABCD1 2 71854 2.78342E-5 35927 1 4.705E-5
X-153009153-G-A p.Pro734Pro synonymous ABCD1 9 71688 1.25544E-4 35844 1 9.42196E-5
X-153009161-C-A p.Pro737His missense ABCD1 1 71006 1.40833E-5 35503 0 NA
X-153009180-C-T p.Ala743Ala synonymous ABCD1 3 68220 4.39754E-5 34110 1 NA