Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-124768527-G-T c.-220G>T 5_prime_UTR_premature_start_codon_gain ACADSB 4 65472 6.10948E-5 32736 0 2.86971E-4
10-124768555-C-T c.-192C>T 5_prime_UTR_premature_start_codon_gain ACADSB 1 66144 1.51185E-5 33072 0 1.34756E-5
10-124768555-C-G p.Leu4Val missense ACADSB 3 66144 4.53556E-5 33072 0 3.18715E-5
10-124768559-C-T p.Ala5Val missense ACADSB 1 65928 1.51681E-5 32964 0 2.76243E-4
10-124768560-A-G p.Ala5Ala synonymous ACADSB 5 65924 7.58449E-5 32962 0 5.52181E-5
10-124768566-G-A p.Arg7Arg synonymous ACADSB 1 65676 1.52263E-5 32838 0 NA
10-124768583-G-A p.Arg13Lys missense ACADSB 19354 63238 0.30605 31619 3397 0.310128
10-124768584-G-C c.-164+1G>C splice_donor ACADSB 6 64126 9.35658E-5 32063 0 4.79419E-5
10-124768590-G-T c.42+3G>T splice_region ACADSB 1 63616 1.57193E-5 31808 0 NA
10-124787052-A-G p.Lys1Glu missense ACADSB 246 8392 0.0293136 4196 6 0.03125
10-124787100-T-C p.Tyr17His missense ACADSB 1 8814 1.13456E-4 4407 0 6.36902E-5
10-124793874-A-C p.Leu15Leu splice_region+synonymous ACADSB 7 83130 8.42055E-5 41565 0 6.25E-4
10-124793891-C-T p.Thr21Ile missense ACADSB 1 83136 1.20285E-5 41568 0 1.64832E-5
10-124793893-T-G p.Cys22Gly missense ACADSB 1 83132 1.20291E-5 41566 0 3.1837E-5
10-124793895-T-C p.Cys22Cys synonymous ACADSB 1 83126 1.20299E-5 41563 0 NA
10-124793896-T-G p.Leu23Val missense ACADSB 10 83118 1.20311E-4 41559 0 5.41263E-4
10-124793910-G-A p.Lys27Lys synonymous ACADSB 3 83092 3.61046E-5 41546 0 3.98178E-6
10-124793920-C-T p.His31Tyr missense ACADSB 2 83096 2.40685E-5 41548 0 NA
10-124793921-A-G p.His31Arg missense ACADSB 235 83088 0.00282833 41544 8 0.00796388
10-124793924-T-A p.Val32Asp missense ACADSB 5 83086 6.01786E-5 41543 0 1.6488E-5
10-124793971-G-C p.Gly48Arg missense ACADSB 1 82816 1.2075E-5 41408 0 NA
10-124793972-G-T p.Gly48Val missense ACADSB 1 82798 1.20776E-5 41399 0 NA
10-124793981-T-C p.Phe51Ser missense ACADSB 1 82682 1.20945E-5 41341 0 3.18471E-5
10-124793983-G-A p.Ala52Thr missense ACADSB 3 82622 3.63099E-5 41311 0 2.00115E-5
10-124793986-C-T p.Pro53Ser missense ACADSB 8 82590 9.6864E-5 41295 0 1.27372E-4
10-124793997-A-G p.Thr56Thr synonymous ACADSB 664 82364 0.00806178 41182 7 0.0161845
10-124794005-A-G p.Asp59Gly missense ACADSB 1 82224 1.21619E-5 41112 0 3.18471E-5
10-124794031-G-T p.Val68Phe missense+splice_region ACADSB 7 80754 8.6683E-5 40377 0 4.11668E-5
10-124794031-G-C p.Val68Leu missense+splice_region ACADSB 1 80754 1.23833E-5 40377 0 8.43384E-6
10-124797274-G-A p.Ala72Thr missense ACADSB 1 83048 1.20412E-5 41524 0 NA
10-124797275-C-A p.Ala72Asp missense ACADSB 1 83048 1.20412E-5 41524 0 NA
10-124797298-G-T p.Val80Phe missense ACADSB 2 83126 2.40599E-5 41563 0 1.65134E-5
10-124797314-A-C p.Glu85Ala missense ACADSB 1 83134 1.20288E-5 41567 0 NA
10-124797321-G-A p.Ser87Ser synonymous ACADSB 2 83134 2.40575E-5 41567 0 7.96083E-5
10-124797325-A-G p.Met89Val missense ACADSB 1 83128 1.20296E-5 41564 0 8.2526E-6
10-124797335-C-G p.Ser92* stop_gained ACADSB 2 83112 2.40639E-5 41556 0 1.59408E-4
10-124797336-A-G p.Ser92Ser synonymous ACADSB 1 83100 1.20337E-5 41550 0 1.65046E-5
10-124797343-C-A p.Gln95Lys missense ACADSB 1 83030 1.20438E-5 41515 0 1.65057E-5
10-124797355-C-T p.Gln99* stop_gained ACADSB 1 82916 1.20604E-5 41458 0 1.6509E-5
10-124797361-G-GGGTTGAT p.Gln95fs frameshift ACADSB 1 82844 1.20709E-5 41422 0 NA
10-124797364-G-A c.303+1G>A splice_donor ACADSB 31 82790 3.74441E-4 41395 0 4.46201E-4
10-124797364-G-C c.303+1G>C splice_donor ACADSB 1 82790 1.20788E-5 41395 0 NA
10-124797368-A-G c.303+5A>G splice_region ACADSB 8 82750 9.66767E-5 41375 0 3.30327E-5
10-124799977-T-C c.304-5T>C splice_region ACADSB 2 83232 2.40292E-5 41616 0 NA
10-124800005-A-G p.Pro109Pro synonymous ACADSB 1 83254 1.20114E-5 41627 0 NA
10-124800010-A-T p.Tyr111Phe missense ACADSB 17 83276 2.0414E-4 41638 1 1.64935E-5
10-124800042-G-A p.Val122Met missense ACADSB 1 83302 1.20045E-5 41651 0 NA
10-124800046-T-G p.Leu123Arg missense ACADSB 1 83310 1.20034E-5 41655 0 NA
10-124800047-C-T p.Leu123Leu synonymous ACADSB 9 83308 1.08033E-4 41654 0 5.04032E-4
10-124800048-G-A p.Val124Met missense ACADSB 1 83310 1.20034E-5 41655 0 3.97668E-6
10-124800048-G-C p.Val124Leu missense ACADSB 1 83310 1.20034E-5 41655 0 4.11902E-5
10-124800048-G-T p.Val124Leu missense ACADSB 1 83310 1.20034E-5 41655 0 NA
10-124800051-A-G p.Ile125Val missense ACADSB 1 83314 1.20028E-5 41657 0 NA
10-124800052-T-TA p.Glu126fs frameshift ACADSB 11 83310 1.32037E-4 41655 0 3.18654E-4
10-124800063-G-A p.Ala129Thr missense ACADSB 4 83296 4.80215E-5 41648 0 4.37449E-5
10-124800067-A-G p.Lys130Arg missense ACADSB 1 83298 1.20051E-5 41649 0 NA
10-124800084-G-T p.Ala136Ser missense ACADSB 1 83292 1.2006E-5 41646 0 3.977E-6
10-124800099-A-G p.Ile141Val missense ACADSB 1 83266 1.20097E-5 41633 0 8.23642E-6
10-124800099-A-C p.Ile141Leu missense ACADSB 1 83264 1.201E-5 41632 0 8.23642E-6
10-124800117-A-T p.Asn147Tyr missense ACADSB 5 83244 6.00644E-5 41622 0 0.00125
10-124800121-C-T p.Thr148Ile missense ACADSB 96 83234 0.00115337 41617 1 0.006875
10-124800130-G-A p.Arg151Lys missense ACADSB 37 83222 4.44594E-4 41611 0 0.0015121
10-124800131-A-G p.Arg151Arg synonymous ACADSB 1 83226 1.20155E-5 41613 0 NA
10-124800144-G-C p.Glu156Gln missense ACADSB 1 83200 1.20192E-5 41600 0 NA
10-124800169-C-T p.Pro164Leu missense ACADSB 1 83138 1.20282E-5 41569 0 NA
10-124800172-A-G p.Gln170Arg missense+splice_region ACADSB 1 83122 1.20305E-5 41561 0 NA
10-124800717-A-G c.511-8A>G splice_region ACADSB 3 83182 3.60655E-5 41591 0 2.48192E-5
10-124800718-T-C c.511-7T>C splice_region ACADSB 1 83178 1.20224E-5 41589 0 NA
10-124800719-A-G c.511-6A>G splice_region ACADSB 1 83172 1.20233E-5 41586 0 3.1953E-5
10-124800723-A-G c.511-2A>G splice_acceptor ACADSB 10 83184 1.20215E-4 41592 0 3.18532E-5
10-124800735-T-A p.Phe174Tyr missense ACADSB 6 83238 7.20825E-5 41619 0 8.24158E-6
10-124800745-A-C p.Ser177Ser synonymous ACADSB 1 83246 1.20126E-5 41623 0 8.23968E-6
10-124800750-C-T p.Ala179Val missense ACADSB 1 83252 1.20117E-5 41626 0 NA
10-124800755-G-A p.Ala181Thr missense ACADSB 2 83252 2.40234E-5 41626 0 3.29511E-5
10-124800769-A-G p.Ser185Ser synonymous ACADSB 1 83260 1.20106E-5 41630 0 2.38626E-5
10-124800773-G-A p.Ala187Thr missense ACADSB 2 83258 2.40217E-5 41629 0 NA
10-124800811-T-C p.Tyr199Tyr synonymous ACADSB 1 83290 1.20062E-5 41645 0 3.1835E-5
10-124800817-C-G p.Leu201Leu synonymous ACADSB 6 83302 7.20271E-5 41651 0 5.56775E-5
10-124800819-A-G p.Asn202Ser missense ACADSB 4 83310 4.80134E-5 41655 0 6.36659E-5
10-124800835-G-A p.Trp207* stop_gained ACADSB 10 83318 1.20022E-4 41659 0 6.36299E-5
10-124800838-C-G p.Ile208Met missense ACADSB 1 83318 1.20022E-5 41659 0 NA
10-124800839-A-C p.Ser209Arg missense ACADSB 1 83318 1.20022E-5 41659 0 NA
10-124800843-G-A p.Ser210Asn missense ACADSB 1 83320 1.20019E-5 41660 0 NA
10-124800849-A-T p.Glu212Val missense ACADSB 1 83328 1.20008E-5 41664 0 3.97681E-6
10-124800853-C-T p.His213His synonymous ACADSB 18826 83150 0.22641 41575 2131 0.26125
10-124800854-G-A p.Ala214Thr missense ACADSB 2 83328 2.40015E-5 41664 0 9.55292E-5
10-124800854-G-T p.Ala214Ser missense ACADSB 1 83328 1.20008E-5 41664 0 1.64734E-5
10-124800855-C-A p.Ala214Glu missense ACADSB 1 83324 1.20013E-5 41662 0 6.36862E-5
10-124800863-T-C p.Phe217Leu missense ACADSB 1 83322 1.20016E-5 41661 0 NA
10-124800866-C-G p.Leu218Val missense ACADSB 3 83328 3.60023E-5 41664 0 5.03525E-4
10-124800874-G-C p.Met220Ile missense ACADSB 1 83324 1.20013E-5 41662 0 8.23669E-6
10-124800887-C-G p.Pro225Ala missense ACADSB 2 83316 2.4005E-5 41658 0 3.18552E-5
10-124800889-T-C p.Pro225Pro synonymous ACADSB 1 83316 1.20025E-5 41658 0 1.19303E-5
10-124802563-G-A p.Gly228Glu missense+splice_region ACADSB 2 83264 2.402E-5 41632 0 NA
10-124802564-A-C p.Gly228Gly splice_region+synonymous ACADSB 1 83266 1.20097E-5 41633 0 NA
10-124802565-T-C p.Tyr229His missense ACADSB 3 83264 3.603E-5 41632 0 1.1931E-5
10-124802590-T-C p.Val237Ala missense ACADSB 2 83300 2.40096E-5 41650 0 6.36862E-5
10-124802595-C-T p.Arg239Cys missense ACADSB 2 83302 2.4009E-5 41651 0 6.36821E-5
10-124802596-G-A p.Arg239His missense ACADSB 3 83294 3.6017E-5 41647 0 2.47125E-5
10-124802605-C-T p.Pro242Leu missense ACADSB 3 83314 3.60084E-5 41657 0 1.07082E-4
10-124802606-G-A p.Pro242Pro synonymous ACADSB 6 83312 7.20184E-5 41656 0 4.97081E-4
10-124802616-A-G p.Ile246Val missense ACADSB 4 83310 4.80134E-5 41655 0 9.88419E-5
10-124802637-T-C p.Leu253Leu synonymous ACADSB 2 83312 2.40061E-5 41656 0 9.5584E-5
10-124802638-T-A p.Leu253* stop_gained ACADSB 1 83318 1.20022E-5 41659 0 NA
10-124802641-G-A p.Gly254Glu missense ACADSB 1 83314 1.20028E-5 41657 0 3.18512E-5
10-124802663-C-T p.Cys261Cys synonymous ACADSB 2 83288 2.40131E-5 41644 0 NA
10-124802665-C-T p.Pro262Leu missense ACADSB 19 83284 2.28135E-4 41642 0 0.00151057
10-124802666-G-A p.Pro262Pro synonymous ACADSB 174 83280 0.00208934 41640 1 0.00363173
10-124802674-T-G p.Phe265Cys missense ACADSB 1 83272 1.20088E-5 41636 0 NA
10-124802675-C-T p.Phe265Phe synonymous ACADSB 12 83272 1.44106E-4 41636 0 5.03525E-4
10-124802689-TGGGTA-T c.807+3_807+7delGGGTA splice_region ACADSB 2 83248 2.40246E-5 41624 0 NA
10-124802692-G-A c.807+5G>A splice_region ACADSB 1 83232 1.20146E-5 41616 0 NA
10-124803914-A-G p.Pro271Pro synonymous ACADSB 1 83172 1.20233E-5 41586 0 3.97791E-6
10-124803917-A-G p.Glu272Glu synonymous ACADSB 3 83198 3.60586E-5 41599 0 3.1839E-5
10-124803921-A-G p.Asn274Asp missense ACADSB 1 83198 1.20195E-5 41599 0 3.1839E-5
10-124803922-A-G p.Asn274Ser missense ACADSB 2 83198 2.4039E-5 41599 0 3.29951E-5
10-124803949-A-G p.Tyr283Cys missense ACADSB 2 83190 2.40414E-5 41595 0 9.07651E-5
10-124803960-A-C p.Ile287Leu missense ACADSB 1 83184 1.20215E-5 41592 0 NA
10-124803973-A-G p.Asn291Ser missense ACADSB 3 83138 3.60846E-5 41569 0 3.18451E-5
10-124803979-G-A p.Gly293Asp missense ACADSB 1 83108 1.20325E-5 41554 0 NA
10-124803979-G-T p.Gly293Val missense ACADSB 1 83108 1.20325E-5 41554 0 NA
10-124803983-A-G p.Arg294Arg synonymous ACADSB 1 83106 1.20328E-5 41553 0 NA
10-124803988-G-A p.Gly296Glu missense ACADSB 2 83094 2.40691E-5 41547 0 NA
10-124804001-G-GAT c.900_900+1insAT splice_donor ACADSB 2 82980 2.41022E-5 41490 1 NA
10-124804004-A-G c.900+3A>G splice_region ACADSB 1 82910 1.20613E-5 41455 0 NA
10-124806727-G-T p.Met301Ile missense+splice_region ACADSB 1 83140 1.20279E-5 41570 0 3.97981E-6
10-124806738-C-T p.Ala305Val missense ACADSB 1 83164 1.20244E-5 41582 0 1.98919E-5
10-124806739-G-A p.Ala305Ala synonymous ACADSB 17 83174 2.04391E-4 41587 0 0.00151362
10-124806747-G-A p.Cys308Tyr missense ACADSB 2 83206 2.40367E-5 41603 0 2.47844E-5
10-124806752-G-C p.Asp310His missense ACADSB 1 83208 1.20181E-5 41604 0 NA
10-124806753-A-T p.Asp310Val missense ACADSB 1 83196 1.20198E-5 41598 0 NA
10-124806756-A-T p.Tyr311Phe missense ACADSB 2 83202 2.40379E-5 41601 0 3.18451E-5
10-124806763-T-C n.898T>C splice_region ACADSB 6 83194 7.21206E-5 41597 0 4.12623E-5
10-124806766-A-T p.Pro314Pro synonymous ACADSB 3 83194 3.60603E-5 41597 0 9.5511E-5
10-124806770-A-G p.Ile316Val missense ACADSB 5328 83082 0.0641294 41541 181 0.0604488
10-124806784-A-T p.Ile320Ile synonymous ACADSB 12 83164 1.44293E-4 41582 0 1.56729E-4
10-124810559-T-C c.991-6T>C splice_region ACADSB 2 83038 2.40854E-5 41519 0 9.13659E-6
10-124810560-T-A c.991-5T>A splice_region ACADSB 1 83046 1.20415E-5 41523 0 NA
10-124810588-C-T p.His338His synonymous ACADSB 51 83234 6.1273E-4 41617 0 0.00125209
10-124810588-C-G p.His338Gln missense ACADSB 3 83234 3.6043E-5 41617 0 8.65291E-6
10-124810589-G-A p.Val339Met missense ACADSB 10 83238 1.20137E-4 41619 0 6.43335E-5
10-124810592-G-C p.Ala340Pro missense ACADSB 1 83250 1.2012E-5 41625 0 NA
10-124810607-G-C p.Ala345Pro missense ACADSB 1 83290 1.20062E-5 41645 0 NA
10-124810624-A-G p.Thr350Thr synonymous ACADSB 1 83272 1.20088E-5 41636 0 NA
10-124810630-T-C p.Asn352Asn synonymous ACADSB 1 83264 1.201E-5 41632 0 3.99568E-6
10-124810634-G-A p.Ala354Thr missense ACADSB 1 83250 1.2012E-5 41625 0 1.70059E-5
10-124810636-T-C p.Ala354Ala synonymous ACADSB 2 83238 2.40275E-5 41619 0 NA
10-124810639-G-A p.Arg355Arg synonymous ACADSB 3 83218 3.60499E-5 41609 0 8.52311E-6
10-124810664-A-C p.Ile364Leu missense ACADSB 1 82978 1.20514E-5 41489 0 1.72043E-5
10-124810675-G-A p.Ala367Ala synonymous ACADSB 5 82680 6.04741E-5 41340 0 0.001875
10-124810676-T-C p.Ser368Pro missense ACADSB 7 82682 8.46617E-5 41341 0 2.60426E-4
10-124810680-T-C p.Met369Thr missense ACADSB 1 82572 1.21106E-5 41286 0 NA
10-124810683-C-A p.Ala370Asp missense ACADSB 1 82326 1.21468E-5 41163 0 NA
10-124810703-G-GGAAAAAAAAAAAAAAAAAAAAA c.1128+1_1128+2insGAAAAAAAAAAAAAAAAAAAAA splice_donor ACADSB 1 77624 1.28826E-5 38812 0 NA
10-124810703-G-GT c.1128+1_1128+2insT splice_donor ACADSB 1 77624 1.28826E-5 38812 0 3.33056E-4
10-124810704-T-TAAAAAAAAA c.1128+2_1128+3insAAAAAAAAA splice_region ACADSB 4 75972 5.2651E-5 37986 1 NA
10-124810704-TAAAAA-T c.1128+3_1128+7delAAAAA splice_region ACADSB 469 75754 0.00619109 37877 27 NA
10-124810704-TAAAAAA-T c.1128+3_1128+8delAAAAAA splice_region ACADSB 527 75770 0.00695526 37885 29 0.00624239
10-124810704-TAAA-T c.1128+3_1128+5delAAA splice_region ACADSB 1047 75490 0.0138694 37745 109 0.00411084
10-124810704-TAAAAAAAA-T c.1128+3_1128+10delAAAAAAAA splice_region ACADSB 22 75928 2.89748E-4 37964 0 0.00304507
10-124810704-TAAAAAAA-T c.1128+3_1128+9delAAAAAAA splice_region ACADSB 107 75884 0.00141005 37942 1 0.00609013
10-124810704-TAAAA-T c.1128+3_1128+6delAAAA splice_region ACADSB 306 75766 0.00403875 37883 9 NA
10-124810704-T-TA c.1128+2_1128+3insA splice_region ACADSB 111 75778 0.00146481 37889 3 3.04507E-4
10-124810704-TAAAAAAAAAA-T c.1128+3_1128+12delAAAAAAAAAA splice_region ACADSB 7 75972 9.21392E-5 37986 0 NA
10-124810704-TAA-T c.1128+3_1128+4delAA splice_region ACADSB 2046 74662 0.0274035 37331 404 NA
10-124810704-T-TAAAAAAAAAAAA c.1128+2_1128+3insAAAAAAAAAAAA splice_region ACADSB 1 75974 1.31624E-5 37987 0 NA
10-124810704-T-TAAAAAAAA c.1128+2_1128+3insAAAAAAAA splice_region ACADSB 1 75972 1.31627E-5 37986 0 NA
10-124810704-T-TAAA c.1128+2_1128+3insAAA splice_region ACADSB 23 75964 3.02775E-4 37982 0 NA
10-124810704-T-TAAAAAAAAAA c.1128+2_1128+3insAAAAAAAAAA splice_region ACADSB 1 75968 1.31634E-5 37984 0 NA
10-124810704-T-TAAAAAAAAAAAAAAA c.1128+2_1128+3insAAAAAAAAAAAAAAA splice_region ACADSB 1 75976 1.31621E-5 37988 0 NA
10-124810704-TAAAAAAAAAAAAA-T c.1128+3_1128+15delAAAAAAAAAAAAA splice_region ACADSB 1 75976 1.31621E-5 37988 0 NA
10-124810704-TAAAAAAAAA-T c.1128+3_1128+11delAAAAAAAAA splice_region ACADSB 19 75962 2.50125E-4 37981 1 0.0022838
10-124810704-TAAAAAAAAAAAA-T c.1128+3_1128+14delAAAAAAAAAAAA splice_region ACADSB 1 75972 1.31627E-5 37986 0 NA
10-124810704-T-TAA c.1128+2_1128+3insAA splice_region ACADSB 142 75858 0.00187192 37929 0 NA
10-124810704-T-TAAAAAA c.1128+2_1128+3insAAAAAA splice_region ACADSB 2 75970 2.63262E-5 37985 0 NA
10-124810704-TAAAAAAAAAAAAAAAA-T c.1128+3_1128+18delAAAAAAAAAAAAAAAA splice_region ACADSB 1 75976 1.31621E-5 37988 0 NA
10-124810704-T-TAAAAA c.1128+2_1128+3insAAAAA splice_region ACADSB 2 75970 2.63262E-5 37985 0 NA
10-124810704-TA-T c.1128+3delA splice_region ACADSB 312 75422 0.00413672 37711 36 NA
10-124810704-TAAAAAAAAAAA-T c.1128+3_1128+13delAAAAAAAAAAA splice_region ACADSB 1 75970 1.31631E-5 37985 0 NA
10-124810704-T-TAAAAAAAAAAAAAAAAAAAAAAA c.1128+2_1128+3insAAAAAAAAAAAAAAAAAAAAAAA splice_region ACADSB 1 75974 1.31624E-5 37987 0 NA
10-124810704-T-TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1128+2_1128+3insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA splice_region ACADSB 1 75976 1.31621E-5 37988 0 NA
10-124810704-T-TAAAA c.1128+2_1128+3insAAAA splice_region ACADSB 6 75970 7.89785E-5 37985 0 NA
10-124810704-T-TG c.1128+2_1128+3insG splice_region ACADSB 1 75976 1.31621E-5 37988 0 NA
10-124810704-T-TAAAAAAA c.1128+2_1128+3insAAAAAAA splice_region ACADSB 2 75976 2.63241E-5 37988 0 NA
10-124810704-T-TAAAAAAAAAAAAA c.1128+2_1128+3insAAAAAAAAAAAAA splice_region ACADSB 2 75974 2.63248E-5 37987 0 NA
10-124810704-T-TAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1128+2_1128+3insAAAAAAAAAAAAAAAAAAAAAAAAAAA splice_region ACADSB 1 75976 1.31621E-5 37988 0 NA
10-124810704-T-TAAAAAAAAAAAAAA c.1128+2_1128+3insAAAAAAAAAAAAAA splice_region ACADSB 1 75974 1.31624E-5 37987 0 NA
10-124810704-TAAAAAAAAAAAAAAA-T c.1128+3_1128+17delAAAAAAAAAAAAAAA splice_region ACADSB 2 75976 2.63241E-5 37988 0 NA
10-124810704-TAAAAAAAAAAAAAAAAAA-T c.1128+3_1128+20delAAAAAAAAAAAAAAAAAA splice_region ACADSB 1 75976 1.31621E-5 37988 0 NA
10-124810704-T-TAAAAAAAAAAAAAAAAAAAAAAAAAA c.1128+2_1128+3insAAAAAAAAAAAAAAAAAAAAAAAAAA splice_region ACADSB 2 75976 2.63241E-5 37988 1 NA
10-124810705-A-G c.1128+3A>G splice_region ACADSB 6 75498 7.94723E-5 37749 0 2.49025E-4
10-124810705-A-T c.1128+3A>T splice_region ACADSB 2 75496 2.64915E-5 37748 0 7.36739E-4
10-124810705-A-AAAAAAAAAAAAAAAAAAAAAAAG c.1128+3_1128+4insAAAAAAAAAAAAAAAAAAAAAAG splice_region ACADSB 1 75498 1.32454E-5 37749 0 NA
10-124810705-A-AAAAAAAAAAAAAAAAAAAAAAAAG c.1128+3_1128+4insAAAAAAAAAAAAAAAAAAAAAAAG splice_region ACADSB 1 75500 1.3245E-5 37750 0 NA
10-124810707-A-G c.1128+5A>G splice_region ACADSB 1 78662 1.27126E-5 39331 0 NA
10-124812586-C-G p.Gln380Glu missense ACADSB 4 83294 4.80227E-5 41647 0 6.25E-4
10-124812587-AAAC-A p.Thr382del disruptive_inframe_deletion ACADSB 1 83296 1.20054E-5 41648 0 NA
10-124812593-C-T p.Thr382Met missense ACADSB 4 83306 4.80158E-5 41653 1 7.42158E-5
10-124812597-T-C p.Ser383Ser synonymous ACADSB 2 83318 2.40044E-5 41659 0 3.97703E-6
10-124812599-A-T p.Lys384Ile missense ACADSB 1 83322 1.20016E-5 41661 0 1.64897E-5
10-124812602-G-T p.Cys385Phe missense ACADSB 1 83318 1.20022E-5 41659 0 NA
10-124812604-A-G p.Ile386Val missense ACADSB 2 83320 2.40038E-5 41660 0 0.001875
10-124812606-C-T p.Ile386Ile synonymous ACADSB 1 83318 1.20022E-5 41659 0 2.38637E-5
10-124812607-G-A p.Glu387Lys missense ACADSB 53 83322 6.36087E-4 41661 0 0.00453629
10-124812613-A-G p.Met389Val missense ACADSB 3 83326 3.60032E-5 41663 0 6.37105E-5
10-124812617-G-A p.Gly390Glu missense ACADSB 1 83326 1.20011E-5 41663 0 3.97697E-6
10-124812626-G-T p.Gly393Val missense ACADSB 2 83326 2.40021E-5 41663 0 3.97735E-6
10-124812633-CAAAGAT-C p.Lys396_Asp397del conservative_inframe_deletion ACADSB 1 83328 1.20008E-5 41664 0 NA
10-124812634-A-G p.Lys396Glu missense ACADSB 8 83332 9.60015E-5 41666 0 1.39207E-4
10-124812635-A-C p.Lys396Thr missense ACADSB 72 83332 8.64014E-4 41666 0 3.97744E-4
10-124812641-A-ACTC p.Tyr398_Pro399insSer conservative_inframe_insertion ACADSB 1 83324 1.20013E-5 41662 0 NA
10-124812642-C-G p.Tyr398* stop_gained ACADSB 2 83328 2.40015E-5 41664 0 2.55346E-4
10-124812661-C-T p.Arg405* stop_gained ACADSB 5 83288 6.00327E-5 41644 0 7.5643E-5
10-124812662-G-A p.Arg405Gln missense ACADSB 1 83292 1.2006E-5 41646 0 4.1263E-5
10-124812676-G-A p.Gly410Ser missense+splice_region ACADSB 1 83200 1.20192E-5 41600 0 2.94911E-5
10-124812684-G-C c.1228+8G>C splice_region ACADSB 15 83072 1.80566E-4 41536 0 3.66771E-4
10-124813211-G-A p.Gly410Asp missense+splice_region ACADSB 1 83136 1.20285E-5 41568 0 5.03525E-4
10-124813214-C-T p.Thr411Met missense ACADSB 4 83144 4.81093E-5 41572 0 9.55292E-5
10-124813220-A-G p.Tyr413Cys missense ACADSB 2 83170 2.40471E-5 41585 0 NA
10-124813221-T-C p.Tyr413Tyr synonymous ACADSB 2 83178 2.40448E-5 41589 0 NA
10-124813229-C-T p.Ala416Val missense ACADSB 3 83206 3.60551E-5 41603 0 8.23778E-6
10-124813236-C-T p.Asn418Asn synonymous ACADSB 2 83218 2.40333E-5 41609 0 2.47137E-5
10-124813237-A-G p.Ile419Val missense ACADSB 2 83218 2.40333E-5 41609 0 NA
10-124813237-A-C p.Ile419Leu missense ACADSB 1 83218 1.20166E-5 41609 0 NA
10-124813239-C-A p.Ile419Ile synonymous ACADSB 11 83210 1.32196E-4 41605 0 2.86551E-4
10-124813253-T-C p.Ile424Thr missense ACADSB 1 83190 1.20207E-5 41595 0 5.03525E-4
10-124813266-C-T p.Ile428Ile synonymous ACADSB 1 83186 1.20213E-5 41593 0 1.64777E-5
10-124813267-G-A p.Asp429Asn missense ACADSB 1 83178 1.20224E-5 41589 0 3.18532E-5
10-124813269-T-C p.Asp429Asp synonymous ACADSB 1 83194 1.20201E-5 41597 0 8.23913E-6
10-124813394-A-G n.584A>G splice_region ACADSB 2 76614 2.61049E-5 38307 0 NA