Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-146019494-C-T c.-105C>T 5_prime_UTR_premature_start_codon_gain ABCE1 1 2960 3.37838E-4 1480 0 NA
4-146025537-G-A c.-27-1G>A splice_acceptor ABCE1 1 81100 1.23305E-5 40550 0 NA
4-146025542-G-C c.-23G>C splice_region ABCE1 12 81490 1.47257E-4 40745 0 4.77981E-4
4-146025549-A-G c.-16A>G 5_prime_UTR_premature_start_codon_gain ABCE1 22 81896 2.68633E-4 40948 0 5.73504E-4
4-146025556-C-T c.-9C>T 5_prime_UTR_premature_start_codon_gain ABCE1 3 82102 3.65399E-5 41051 0 2.03567E-4
4-146025568-G-A p.Ala2Thr missense ABCE1 1 82542 1.2115E-5 41271 0 4.20281E-6
4-146025573-C-G p.Asp3Glu missense ABCE1 2 82604 2.42119E-5 41302 0 NA
4-146025582-G-A p.Thr6Thr synonymous ABCE1 1 82706 1.2091E-5 41353 0 1.74569E-5
4-146025591-T-A p.Ala9Ala synonymous ABCE1 1 82808 1.20761E-5 41404 0 NA
4-146025592-A-G p.Ile10Val missense ABCE1 3 82804 3.62301E-5 41402 0 1.72378E-5
4-146025603-T-C p.His13His synonymous ABCE1 2 82772 2.41628E-5 41386 0 NA
4-146025619-A-G p.Lys19Glu missense ABCE1 1 82848 1.20703E-5 41424 0 NA
4-146025645-G-A p.Lys27Lys synonymous ABCE1 2 82756 2.41674E-5 41378 0 4.1616E-6
4-146025664-A-T p.Met34Leu missense ABCE1 1 82278 1.21539E-5 41139 0 NA
4-146025668-G-GAAAAT c.103+1_103+2insAAAAT splice_donor ABCE1 2 82202 2.43303E-5 41101 1 NA
4-146026770-A-G p.Ile39Met missense ABCE1 2 82800 2.41546E-5 41400 0 4.07047E-6
4-146026780-C-T p.Pro43Ser missense ABCE1 1 82958 1.20543E-5 41479 0 6.02637E-5
4-146026787-G-A p.Ser45Asn missense ABCE1 1 82992 1.20494E-5 41496 0 1.20263E-5
4-146026796-C-T p.Ala48Val missense ABCE1 2 82982 2.41016E-5 41491 0 NA
4-146026845-A-G c.189+3A>G splice_region ABCE1 1 82420 1.2133E-5 41210 0 NA
4-146029181-C-T p.Gly68Gly synonymous ABCE1 1 83200 1.20192E-5 41600 0 9.55597E-5
4-146029220-A-G p.Lys81Lys synonymous ABCE1 1 83288 1.20065E-5 41644 0 8.25028E-6
4-146029223-A-G p.Glu82Glu synonymous ABCE1 1 83278 1.2008E-5 41639 0 3.29995E-5
4-146029235-A-T p.Arg86Arg synonymous ABCE1 3 83264 3.603E-5 41632 0 4.95017E-5
4-146029266-T-TTGCCTATCCCTCGTCCAGGTGA c.287+2_287+3insTGCCTATCCCTCGTCCAGGTGA splice_region ABCE1 2 83144 2.40547E-5 41572 1 NA
4-146030277-G-T c.288-7G>T splice_region ABCE1 1 83042 1.20421E-5 41521 0 NA
4-146030302-A-C p.Pro102Pro synonymous ABCE1 3 83202 3.60568E-5 41601 0 NA
4-146030310-T-C p.Val105Ala missense ABCE1 1 83216 1.20169E-5 41608 0 NA
4-146030326-A-T p.Gly110Gly synonymous ABCE1 203 83210 0.00243961 41605 0 0.00554435
4-146030329-T-G p.Thr111Thr synonymous ABCE1 1 83230 1.20149E-5 41615 0 NA
4-146030329-T-A p.Thr111Thr synonymous ABCE1 1 83230 1.20149E-5 41615 0 3.18573E-5
4-146030350-T-C p.Thr118Thr synonymous ABCE1 1 83206 1.20184E-5 41603 0 3.99007E-6
4-146030380-G-A p.Lys128Lys synonymous ABCE1 2 83130 2.40587E-5 41565 0 4.00131E-6
4-146030392-A-G p.Gly132Gly synonymous ABCE1 1 83074 1.20375E-5 41537 0 1.60435E-5
4-146030395-G-T p.Lys133Asn missense ABCE1 1 83052 1.20406E-5 41526 0 NA
4-146030399-G-A p.Asp135Asn missense+splice_region ABCE1 4 83002 4.81916E-5 41501 0 3.18776E-5
4-146030401-T-C p.Asp135Asp splice_region+synonymous ABCE1 19 83002 2.2891E-4 41501 0 0.00151057
4-146030404-A-G c.405+3A>G splice_region ABCE1 1 82964 1.20534E-5 41482 0 NA
4-146031252-T-A c.406-3T>A splice_region ABCE1 2 82096 2.43617E-5 41048 0 6.45619E-5
4-146031255-G-T p.Asp136Tyr missense+splice_region ABCE1 1 81584 1.22573E-5 40792 0 NA
4-146031278-T-A p.Ile143Ile synonymous ABCE1 1 82750 1.20846E-5 41375 0 NA
4-146031310-ATTACT-A p.Phe156fs frameshift ABCE1 1 83102 1.20334E-5 41551 0 NA
4-146031329-A-G p.Leu160Leu synonymous ABCE1 3 83154 3.60776E-5 41577 0 3.19448E-5
4-146031338-C-T p.Asp163Asp synonymous ABCE1 1 83200 1.20192E-5 41600 0 NA
4-146031339-C-T p.Leu164Leu synonymous ABCE1 2 83208 2.40361E-5 41604 0 1.92025E-4
4-146031347-C-G p.Ala166Ala synonymous ABCE1 2 83210 2.40356E-5 41605 0 3.30316E-5
4-146031369-G-A p.Asp174Asn missense ABCE1 1 83252 1.20117E-5 41626 0 NA
4-146031396-G-A c.543+4G>A splice_region ABCE1 130 83180 0.00156288 41590 0 0.00425165
4-146031523-G-C c.544-4G>C splice_region ABCE1 1 82476 1.21247E-5 41238 0 3.98219E-6
4-146031541-T-C p.Ser186Ser synonymous ABCE1 2 82442 2.42595E-5 41221 0 NA
4-146031552-G-A p.Arg190Gln missense ABCE1 5 82408 6.06737E-5 41204 0 NA
4-146031568-GAC-G p.Gln197fs frameshift ABCE1 1 82342 1.21445E-5 41171 0 NA
4-146031574-GGC-G p.Ala198fs frameshift ABCE1 1 82306 1.21498E-5 41153 0 NA
4-146031575-G-C p.Ala198Pro missense ABCE1 1 82298 1.2151E-5 41149 0 NA
4-146031578-A-G p.Ile199Val missense ABCE1 3 82272 3.64644E-5 41136 0 3.18654E-5
4-146031579-T-TCA p.Val200fs frameshift ABCE1 1 82268 1.21554E-5 41134 0 NA
4-146031599-A-G c.613+3A>G splice_region ABCE1 1 81988 1.21969E-5 40994 0 7.96705E-6
4-146031603-G-T c.613+7G>T splice_region ABCE1 243 81892 0.00296732 40946 2 0.00666624
4-146032120-A-G p.Asp205Gly missense+splice_region ABCE1 1 82946 1.2056E-5 41473 0 8.35408E-6
4-146032121-T-C p.Asp205Asp splice_region+synonymous ABCE1 1 82952 1.20552E-5 41476 0 NA
4-146032128-C-T p.His208Tyr missense ABCE1 2 83062 2.40784E-5 41531 0 8.07898E-6
4-146032193-C-T p.Val229Val synonymous ABCE1 268 83212 0.00322069 41606 4 0.00375
4-146032216-T-C p.Ile237Thr missense+splice_region ABCE1 2 83152 2.40523E-5 41576 0 NA
4-146033383-T-C c.711-8T>C splice_region ABCE1 1 81648 1.22477E-5 40824 0 5.94842E-6
4-146033384-TTC-T c.711-6_711-5delTC splice_region ABCE1 4 81614 4.90112E-5 40807 0 2.55109E-4
4-146033385-TCATAG-T c.711-5_711-1delCATAG splice_acceptor ABCE1 22 81060 2.71404E-4 40530 0 0.00164584
4-146033385-TC-T c.711-5delC splice_region ABCE1 27 81314 3.32046E-4 40657 0 0.00280542
4-146033385-TCA-T c.711-5_711-4delCA splice_region ABCE1 23 81234 2.83133E-4 40617 0 0.00258098
4-146033386-C-T c.711-5C>T splice_region ABCE1 20 78268 2.55532E-4 39134 0 0.0143121
4-146033386-CATA-TTTT c.711-5_711-2delCATAinsTTTT splice_acceptor ABCE1 1 79058 1.26489E-5 39529 0 NA
4-146033386-CATAG-TTTTT c.711-5_711-1delCATAGinsTTTTT splice_acceptor ABCE1 3 79052 3.79497E-5 39526 0 NA
4-146033387-A-T c.711-4A>T splice_region ABCE1 14 78558 1.78212E-4 39279 0 0.00766284
4-146033388-TAG-T c.711-2_711-1delAG splice_acceptor ABCE1 15 80114 1.87233E-4 40057 0 0.00140923
4-146033389-A-T c.711-2A>T splice_acceptor ABCE1 13 78504 1.65597E-4 39252 0 0.00761421
4-146033389-AG-TT c.711-2_711-1delAGinsTT splice_acceptor ABCE1 2 79346 2.52061E-5 39673 0 NA
4-146033390-G-T c.711-1G>T splice_acceptor ABCE1 8 79736 1.00331E-4 39868 0 0.00757576
4-146033393-TCA-T p.Met239fs frameshift ABCE1 4 81206 4.92574E-5 40603 0 1.94112E-4
4-146033394-C-T p.Ser139Leu missense ABCE1 7 80464 8.69954E-5 40232 0 0.0093985
4-146033394-CATG-TTTT p.PheMet238PhePhe missense ABCE1 1 80902 1.23606E-5 40451 0 NA
4-146033394-C-G p.Ser139* stop_gained ABCE1 1 80922 1.23576E-5 40461 0 NA
4-146033395-A-T p.Met239Leu missense ABCE1 5 80696 6.19609E-5 40348 0 0.00938673
4-146033395-A-ATTTTTTTT p.Met239fs frameshift ABCE1 2 81070 2.467E-5 40535 0 8.7581E-5
4-146033395-A-ATTTTTTTTT p.Met239delinsIlePhePheLeu disruptive_inframe_insertion ABCE1 1 81106 1.23295E-5 40553 0 NA
4-146033397-G-T p.Met239Ile missense ABCE1 6 81064 7.40156E-5 40532 0 0.00750939
4-146033401-G-T p.Asp241Tyr missense ABCE1 1 81672 1.22441E-5 40836 0 3.94851E-5
4-146033406-G-A p.Ser143Asn missense ABCE1 204 81934 0.00248981 40967 4 0.00554132
4-146033442-G-A p.Lys254Lys synonymous ABCE1 3 82582 3.63275E-5 41291 0 4.24975E-6
4-146033459-G-A p.Arg260Gln missense ABCE1 2 82478 2.42489E-5 41239 0 1.25044E-5
4-146033463-T-A p.Ser261Ser synonymous ABCE1 2 82530 2.42336E-5 41265 0 1.29614E-5
4-146033467-A-T p.Ile263Leu missense ABCE1 5 82570 6.05547E-5 41285 0 NA
4-146038448-T-C p.Tyr268Tyr synonymous ABCE1 44 80216 5.48519E-4 40108 0 7.01934E-4
4-146038451-C-A p.Ile269Ile synonymous ABCE1 1 80256 1.24601E-5 40128 0 1.21856E-5
4-146038507-G-A p.Cys288Tyr missense ABCE1 1 81670 1.22444E-5 40835 0 NA
4-146038518-G-A p.Val292Ile missense ABCE1 1 81916 1.22076E-5 40958 0 6.25782E-4
4-146038526-C-T p.Ser294Ser synonymous ABCE1 1 82062 1.21859E-5 41031 0 3.99568E-6
4-146038553-T-C p.Phe303Phe synonymous ABCE1 1 82320 1.21477E-5 41160 0 2.00492E-5
4-146038566-G-A p.Gly308Ser missense+splice_region ABCE1 2 82332 2.42919E-5 41166 1 NA
4-146041095-T-C p.Phe312Leu missense ABCE1 1 81746 1.2233E-5 40873 0 4.06131E-6
4-146041139-T-C p.Asp326Asp synonymous ABCE1 8 82048 9.75039E-5 41024 0 5.99559E-5
4-146041175-TGAA-T p.Glu341del disruptive_inframe_deletion ABCE1 1 82626 1.21027E-5 41313 0 8.31048E-6
4-146041178-A-G p.Glu339Glu synonymous ABCE1 1 82718 1.20893E-5 41359 0 NA
4-146041198-G-C p.Cys346Ser missense ABCE1 1 83036 1.2043E-5 41518 0 NA
4-146041200-A-T p.Met347Leu missense ABCE1 1 83064 1.20389E-5 41532 0 8.2905E-6
4-146041223-GA-G p.Met357fs frameshift ABCE1 1 83186 1.20213E-5 41593 0 NA
4-146041230-A-C p.Met357Leu missense ABCE1 1 83200 1.20192E-5 41600 0 4.01233E-6
4-146041242-G-A p.Glu361Lys missense ABCE1 1 83228 1.20152E-5 41614 0 NA
4-146041251-A-G p.Ile364Val missense ABCE1 1 83250 1.2012E-5 41625 0 3.18796E-5
4-146041264-A-G p.Glu368Gly missense ABCE1 1 83236 1.2014E-5 41618 0 NA
4-146041289-G-C p.Val376Val synonymous ABCE1 1 83218 1.20166E-5 41609 0 NA
4-146041294-T-C p.Leu378Pro missense ABCE1 2 83212 2.4035E-5 41606 0 NA
4-146041298-G-C p.Gly379Gly synonymous ABCE1 1 83200 1.20192E-5 41600 0 NA
4-146041306-G-GAACGGGTAAAACGACATTTATCAGAA c.1144+1_1144+2insAACGGGTAAAACGACATTTATCAGAA splice_donor ABCE1 1 83168 1.20239E-5 41584 0 NA
4-146041310-G-A c.1144+5G>A splice_region ABCE1 1 83144 1.20273E-5 41572 0 NA
4-146042327-A-T p.Gly382Gly splice_region+synonymous ABCE1 1 82944 1.20563E-5 41472 0 NA
4-146042330-G-A p.Thr383Thr synonymous ABCE1 1 82954 1.20549E-5 41477 0 3.98121E-6
4-146042342-A-G p.Thr387Thr synonymous ABCE1 2 82980 2.41022E-5 41490 0 3.98076E-6
4-146042343-T-C p.Phe388Leu missense ABCE1 1 82978 1.20514E-5 41489 0 4.11936E-5
4-146042363-A-G p.Gly394Gly synonymous ABCE1 1 82966 1.20531E-5 41483 0 7.96172E-6
4-146042370-A-C p.Lys397Gln missense ABCE1 4 82968 4.82114E-5 41484 0 3.98127E-6
4-146042382-G-A p.Gly401Arg missense ABCE1 2 82990 2.40993E-5 41495 0 NA
4-146042383-G-A p.Gly401Glu missense+splice_region ABCE1 4 82994 4.81963E-5 41497 0 3.98162E-6
4-146042492-A-G p.Val404Val synonymous ABCE1 3 83174 3.6069E-5 41587 0 NA
4-146042495-A-C p.Pro405Pro synonymous ABCE1 1 83168 1.20239E-5 41584 0 NA
4-146042503-A-G p.Asn408Ser missense ABCE1 2 83180 2.40442E-5 41590 0 NA
4-146042521-A-G p.Gln414Arg missense ABCE1 1 83170 1.20236E-5 41585 0 NA
4-146042537-A-G p.Lys419Lys synonymous ABCE1 3 83160 3.6075E-5 41580 0 3.21002E-5
4-146042551-A-G c.1263+8A>G splice_region ABCE1 14 83002 1.68671E-4 41501 0 1.27429E-4
4-146044164-TA-T c.1264-4delA splice_region ABCE1 76 80366 9.45674E-4 40183 0 0.00159327
4-146044183-G-A p.Arg425His missense ABCE1 2 81038 2.46798E-5 40519 0 3.18512E-5
4-146044184-C-T p.Arg425Arg synonymous ABCE1 1 81090 1.2332E-5 40545 0 NA
4-146044187-G-C p.Gln426His missense ABCE1 1 81206 1.23144E-5 40603 0 8.49055E-6
4-146044229-A-G p.Gln440Gln synonymous ABCE1 3 82272 3.64644E-5 41136 0 0.00191571
4-146044238-C-T p.Thr443Thr synonymous ABCE1 1 82298 1.2151E-5 41149 0 7.5387E-5
4-146044239-G-A p.Asp444Asn missense ABCE1 8 82316 9.71865E-5 41158 0 NA
4-146044241-T-C p.Asp444Asp synonymous ABCE1 2 82344 2.42884E-5 41172 0 3.18471E-5
4-146044268-C-T p.Asn453Asn synonymous ABCE1 1 82430 1.21315E-5 41215 0 NA
4-146044280-A-G p.Gln457Gln synonymous ABCE1 3 82414 3.64016E-5 41207 0 3.18532E-5
4-146044361-A-C c.1375-6A>C splice_region ABCE1 1 82854 1.20694E-5 41427 0 NA
4-146044362-A-G c.1375-5A>G splice_region ABCE1 1 82794 1.20782E-5 41397 0 NA
4-146044363-T-C c.1375-4T>C splice_region ABCE1 1 82776 1.20808E-5 41388 0 NA
4-146044381-T-TTTTCA p.Gly464fs frameshift ABCE1 2 83006 2.40946E-5 41503 0 NA
4-146044382-G-T p.Gly464Cys missense ABCE1 2 83024 2.40894E-5 41512 0 NA
4-146044389-A-AGT p.Leu467fs frameshift ABCE1 1 83076 1.20372E-5 41538 0 NA
4-146044390-A-ATAAGCAT p.Leu467fs frameshift ABCE1 1 83080 1.20366E-5 41540 0 NA
4-146044391-C-T p.Leu467Leu synonymous ABCE1 3 83086 3.61072E-5 41543 0 1.20662E-5
4-146044391-C-CACTTCCCTGTTTTTAA p.Leu467fs frameshift ABCE1 1 83082 1.20363E-5 41541 0 NA
4-146044391-C-CACTTCCCTGTTTTTAATA p.Leu467delinsHisPheProValPheAsnIle disruptive_inframe_insertion ABCE1 1 83084 1.2036E-5 41542 0 NA
4-146044393-A-G p.Leu467Leu synonymous ABCE1 11 83094 1.3238E-4 41547 0 5.73175E-4
4-146044397-C-T p.Arg469* stop_gained ABCE1 4 83098 4.81359E-5 41549 0 4.01668E-6
4-146044417-C-T p.Cys475Cys synonymous ABCE1 525 83182 0.00631146 41591 11 0.0140987
4-146044453-A-G p.Glu487Glu synonymous ABCE1 1 83086 1.20357E-5 41543 0 NA
4-146044454-C-CTTT p.Pro488delinsLeuSer disruptive_inframe_insertion ABCE1 1 83074 1.20375E-5 41537 0 NA
4-146044454-C-T p.Pro488Ser missense ABCE1 2 83076 2.40743E-5 41538 0 NA
4-146044496-C-T p.Arg502* stop_gained ABCE1 1 83016 1.20459E-5 41508 0 NA
4-146044497-G-T p.Arg502Leu missense ABCE1 1 83008 1.2047E-5 41504 0 NA
4-146044516-A-C c.1517+7A>C splice_region ABCE1 1 82988 1.20499E-5 41494 0 NA
4-146044634-A-G p.Ile508Val missense ABCE1 3 82542 3.63451E-5 41271 0 3.1841E-5
4-146044699-G-A p.Ala529Ala synonymous ABCE1 8 82480 9.69932E-5 41240 2 2.86551E-4
4-146044704-G-A p.Arg531His missense ABCE1 1 82422 1.21327E-5 41211 0 8.45337E-6
4-146044705-C-G p.Arg531Arg synonymous ABCE1 1 82412 1.21342E-5 41206 0 NA
4-146044706-G-A p.Val532Ile missense ABCE1 3 82420 3.63989E-5 41210 0 6.36943E-5
4-146044719-A-G p.Asp536Gly missense ABCE1 2 82312 2.42978E-5 41156 0 NA
4-146044732-T-C p.Ser540Ser synonymous ABCE1 8 82186 9.73402E-5 41093 0 4.39666E-5
4-146044757-A-G c.1640+5A>G splice_region ABCE1 5 81630 6.1252E-5 40815 0 1.59256E-4
4-146046138-T-C c.1641-4T>C splice_region ABCE1 75343 75934 0.992217 37967 37395 0.996038
4-146046145-T-C p.Pro548Pro synonymous ABCE1 1 82490 1.21227E-5 41245 0 3.18735E-5
4-146046148-A-T p.Gln549His missense ABCE1 6 82612 7.26287E-5 41306 0 2.48579E-5
4-146046221-A-C p.Arg574Arg synonymous ABCE1 1 83278 1.2008E-5 41639 0 NA
4-146046228-G-A p.Arg576Gln missense ABCE1 1 83266 1.20097E-5 41633 0 1.65442E-5
4-146046239-C-A p.Leu580Ile missense ABCE1 2 83224 2.40315E-5 41612 0 3.18776E-5
4-146046258-G-A c.1752+5G>A splice_region ABCE1 1 83068 1.20383E-5 41534 0 NA
4-146048670-T-C c.1753-8T>C splice_region ABCE1 1 81448 1.22778E-5 40724 0 NA
4-146048697-G-A p.Ser591Asn missense ABCE1 2 81548 2.45254E-5 40774 0 NA
4-146048707-C-T p.Tyr594Tyr synonymous ABCE1 1 81476 1.22736E-5 40738 0 NA
4-146048710-T-C p.Phe595Phe synonymous ABCE1 1 81480 1.2273E-5 40740 0 6.15006E-4
4-146048718-A-C p.Asp598Ala missense ABCE1 2 81296 2.46015E-5 40648 0 NA