Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-35443802-CCTTAGCCCTCCTCTG-C c.*171_*185delCAGAGGAGGGCTAAG splice_region ACACA 5 47082 1.06198E-4 23541 0 NA
17-35443990-A-T p.Ter96Argext*? stop_lost ACACA 3 64908 4.62193E-5 32454 0 NA
17-35443996-G-C p.Gln94Glu missense ACACA 1 65776 1.52031E-5 32888 0 NA
17-35444017-G-C p.Pro87Ala missense ACACA 1 68282 1.46451E-5 34141 0 1.25316E-5
17-35444018-C-T p.Arg86Arg synonymous ACACA 1 68436 1.46122E-5 34218 0 3.18573E-5
17-35444043-T-C p.His78Arg missense ACACA 29 72818 3.98253E-4 36409 0 7.1736E-4
17-35444049-A-G p.Leu76Pro missense ACACA 1 73512 1.36032E-5 36756 0 NA
17-35444053-G-A p.His75Tyr missense ACACA 2 74160 2.69687E-5 37080 0 3.18471E-5
17-35444054-T-A p.Ser74Ser synonymous ACACA 2 74304 2.69165E-5 37152 0 NA
17-35444060-G-A p.His72His synonymous ACACA 1 75006 1.33323E-5 37503 0 9.39744E-6
17-35444065-C-G p.Ala71Pro missense ACACA 1 75274 1.32848E-5 37637 0 NA
17-35444072-G-A p.Pro68Pro synonymous ACACA 2 76316 2.62068E-5 38158 0 8.74768E-6
17-35444074-G-T p.Pro68Thr missense ACACA 2 76624 2.61015E-5 38312 0 3.18573E-5
17-35444074-G-GA p.Pro68fs frameshift ACACA 2 76624 2.61015E-5 38312 0 NA
17-35444082-G-A p.Ser65Leu missense ACACA 1 77346 1.29289E-5 38673 0 NA
17-35444092-C-T p.Asp62Asn missense ACACA 3 78046 3.84389E-5 39023 0 7.33805E-6
17-35444093-C-T p.Trp61* stop_gained ACACA 3 78118 3.84034E-5 39059 0 2.65182E-4
17-35444106-C-A p.Cys57Phe missense ACACA 2 79028 2.53075E-5 39514 0 1.6756E-4
17-35444107-A-G p.Cys57Arg missense ACACA 1 79114 1.264E-5 39557 0 6.37186E-5
17-35444118-C-T c.165-7G>A splice_region ACACA 1 79840 1.2525E-5 39920 0 5.30166E-5
17-35444119-G-A c.165-8C>T splice_region ACACA 1 79920 1.25125E-5 39960 0 NA
17-35444254-C-T c.164+1G>A splice_donor ACACA 3 83112 3.60959E-5 41556 0 0.00100705
17-35444255-G-A p.Thr55Met missense+splice_region ACACA 1 83142 1.20276E-5 41571 0 8.24144E-6
17-35444263-G-C p.Ser2265Ser synonymous ACACA 2 83182 2.40437E-5 41591 0 3.97744E-6
17-35444263-G-A p.Ser2265Ser synonymous ACACA 1 83182 1.20218E-5 41591 0 NA
17-35444281-G-A p.Ile2259Ile synonymous ACACA 4 83210 4.80711E-5 41605 0 3.18573E-5
17-35444285-C-T p.Arg2258Gln missense ACACA 1 83226 1.20155E-5 41613 0 3.18654E-5
17-35444286-G-A p.Arg2258Trp missense ACACA 1 83228 1.20152E-5 41614 0 3.97741E-6
17-35444298-C-T p.Ala2254Thr missense ACACA 2 83230 2.40298E-5 41615 0 1.19324E-5
17-35444300-C-T p.Arg2253Gln missense ACACA 2 83238 2.40275E-5 41619 0 1.64821E-5
17-35444303-T-C p.Gln2252Arg missense ACACA 1 83238 1.20137E-5 41619 0 8.24049E-6
17-35444319-G-C p.His2247Asp missense ACACA 1 83250 1.2012E-5 41625 0 NA
17-35444323-C-T p.Thr2245Thr synonymous ACACA 2 83230 2.40298E-5 41615 0 1.64821E-5
17-35444323-C-G p.Thr2245Thr synonymous ACACA 2 83230 2.40298E-5 41615 0 7.15962E-5
17-35444330-T-C p.His2243Arg missense ACACA 1 83246 1.20126E-5 41623 0 NA
17-35444352-C-T p.Val2236Ile missense ACACA 3 83140 3.60837E-5 41570 0 3.18817E-5
17-35444377-G-GCGGATTTGCTTGAGGACGTAGTCTCTGCTGAT c.6684-4_6684-3insATCAGCAGAGACTACGTCCTCAAGCAAATCCG splice_region ACACA 2 82956 2.41092E-5 41478 1 NA
17-35444377-G-A c.6684-3C>T splice_region ACACA 1 82956 1.20546E-5 41478 0 3.18532E-5
17-35445881-T-C p.Gln2225Gln synonymous ACACA 5 83344 5.99923E-5 41672 0 7.15729E-5
17-35445883-G-C p.Gln2225Glu missense ACACA 1 83344 1.19985E-5 41672 0 NA
17-35445887-G-A p.Leu2223Leu synonymous ACACA 7 83342 8.39913E-5 41671 0 2.71802E-4
17-35445890-G-A p.Val2222Val synonymous ACACA 1 83342 1.19988E-5 41671 0 1.19293E-5
17-35445892-C-T p.Val2222Ile missense ACACA 3 83342 3.59963E-5 41671 0 3.18451E-5
17-35445893-G-A p.Tyr2221Tyr synonymous ACACA 6 83346 7.19891E-5 41673 0 1.40019E-4
17-35445898-C-T p.Asp2220Asn missense ACACA 1 83348 1.19979E-5 41674 0 8.23642E-6
17-35445922-C-T p.Glu2212Lys missense ACACA 1 83350 1.19976E-5 41675 0 3.9764E-6
17-35445977-C-T p.Ala2193Ala synonymous ACACA 85 83292 0.00102051 41646 1 0.0029942
17-35445978-G-A p.Ala2193Val missense ACACA 20 83286 2.40136E-4 41643 0 1.59236E-4
17-35446012-G-GCAAA c.6547-4_6547-3insTTTG splice_region ACACA 2 83128 2.40593E-5 41564 0 6.37024E-5
17-35453927-C-T c.6546+4G>A splice_region ACACA 3 83216 3.60508E-5 41608 0 8.2447E-6
17-35453943-T-C p.Glu2178Glu synonymous ACACA 1 83318 1.20022E-5 41659 0 3.97668E-6
17-35454010-T-C p.Asn2156Ser missense ACACA 2 83340 2.39981E-5 41670 0 6.37267E-5
17-35454032-G-A p.Leu2149Leu synonymous ACACA 3 83306 3.60118E-5 41653 0 1.91095E-4
17-35454032-G-C p.Leu2149Val missense ACACA 1 83306 1.20039E-5 41653 0 NA
17-35454050-G-A p.Arg2143Cys missense ACACA 1 83266 1.20097E-5 41633 0 3.18593E-5
17-35454057-C-T p.Arg2140Arg synonymous ACACA 1 83300 1.20048E-5 41650 0 NA
17-35454092-C-A p.Asp2129Tyr missense ACACA 1 83244 1.20129E-5 41622 0 5.03525E-4
17-35454101-C-CG c.6376-1_6376insC splice_acceptor ACACA 2 83194 2.40402E-5 41597 1 NA
17-35454757-G-A c.6375+8C>T splice_region ACACA 1 83112 1.2032E-5 41556 0 8.24878E-6
17-35454765-G-A p.Ser2125Ser splice_region+synonymous ACACA 1 83198 1.20195E-5 41599 0 NA
17-35454792-G-A p.Gly2116Gly synonymous ACACA 1 83338 1.19993E-5 41669 0 NA
17-35454804-G-A p.His2112His synonymous ACACA 1 83350 1.19976E-5 41675 0 8.23696E-6
17-35454825-G-A p.Ala2105Ala synonymous ACACA 8 83364 9.59647E-5 41682 0 3.29468E-5
17-35454827-C-A p.Ala2105Ser missense ACACA 1 83372 1.19944E-5 41686 0 NA
17-35454828-T-C p.Val2104Val synonymous ACACA 1 83370 1.19947E-5 41685 0 NA
17-35454831-C-T p.Gln2103Gln synonymous ACACA 1 83372 1.19944E-5 41686 0 3.97624E-6
17-35454843-G-A p.Pro2099Pro synonymous ACACA 1 83376 1.19939E-5 41688 0 NA
17-35454850-A-G p.Leu2097Pro missense ACACA 1 83372 1.19944E-5 41686 0 NA
17-35454851-G-A p.Leu2097Leu synonymous ACACA 96 83368 0.00115152 41684 0 0.00100201
17-35454872-A-C p.Leu2090Val missense ACACA 4 83392 4.79662E-5 41696 0 6.37146E-5
17-35454892-C-T p.Arg2083Gln missense ACACA 16 83388 1.91874E-4 41694 0 2.54745E-4
17-35454893-G-A p.Arg2083Trp missense ACACA 3 83384 3.59781E-5 41692 0 1.27429E-4
17-35454894-C-T p.Glu2082Glu synonymous ACACA 1 83382 1.1993E-5 41691 0 NA
17-35454901-G-C p.Thr2080Arg missense ACACA 1 83370 1.19947E-5 41685 0 NA
17-35454908-G-A p.Leu2078Leu synonymous ACACA 1 83360 1.19962E-5 41680 0 NA
17-35454914-G-C p.Pro2076Ala missense ACACA 1 83358 1.19964E-5 41679 0 NA
17-35454919-C-T p.Gly2074Glu missense+splice_region ACACA 11 83340 1.31989E-4 41670 0 4.6127E-4
17-35454920-C-CCAATCGCTCAGCCAAGTGGATGTAGACTGGGTCCACCCGACGCA c.6221-2_6221-1insTGCGTCGGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTG splice_acceptor ACACA 2 83338 2.39987E-5 41669 1 NA
17-35454924-A-C c.6221-5T>G splice_region ACACA 1 83322 1.20016E-5 41661 0 NA
17-35468492-A-T p.Val2065Asp missense ACACA 1 83276 1.20083E-5 41638 0 NA
17-35468493-C-T p.Val2065Ile missense ACACA 2 83286 2.40136E-5 41643 0 NA
17-35468497-G-A p.Asp2063Asp synonymous ACACA 7 83302 8.40316E-5 41651 0 3.37782E-4
17-35468500-C-T p.Val2062Val synonymous ACACA 1 83296 1.20054E-5 41648 0 NA
17-35468502-C-T p.Val2062Met missense ACACA 1 83306 1.20039E-5 41653 0 3.18512E-5
17-35468507-C-T p.Arg2060His missense ACACA 2 83306 2.40079E-5 41653 0 6.3678E-5
17-35468540-T-C p.Lys2049Arg missense ACACA 9 83252 1.08106E-4 41626 0 9.89038E-5
17-35468562-G-C p.Pro2042Ala missense ACACA 2 83144 2.40547E-5 41572 0 3.97861E-6
17-35468568-G-A p.Leu2040Leu synonymous ACACA 1 83106 1.20328E-5 41553 0 NA
17-35468575-T-C p.Gly2037Gly synonymous ACACA 1 83034 1.20433E-5 41517 0 3.18939E-5
17-35468578-C-T p.Arg2036Arg splice_region+synonymous ACACA 1 83022 1.2045E-5 41511 0 NA
17-35468581-G-A c.6108-3C>T splice_region ACACA 1 82986 1.20502E-5 41493 0 NA
17-35468581-G-GCTTTCTCGGTCAGCATACATCTCCATGTGCC c.6108-4_6108-3insGGCACATGGAGATGTATGCTGACCGAGAAAG splice_region ACACA 2 82986 2.41005E-5 41493 1 NA
17-35468585-CAGAA-C c.6108-11_6108-8delTTCT splice_region ACACA 2 82848 2.41406E-5 41424 0 3.18939E-5
17-35470017-C-A c.6107+6G>T splice_region ACACA 1 82948 1.20557E-5 41474 0 1.19428E-5
17-35470018-G-A c.6107+5C>T splice_region ACACA 2 82980 2.41022E-5 41490 0 1.19426E-5
17-35470031-T-G p.Arg2033Arg synonymous ACACA 1818 83080 0.0218825 41540 42 0.0419192
17-35470031-TC-GT p.Arg2033His missense ACACA 1 83150 1.20265E-5 41575 0 NA
17-35470038-G-A p.Ala2031Val missense ACACA 1 83220 1.20163E-5 41610 0 NA
17-35470076-A-C p.Ile2018Met missense ACACA 1 83264 1.201E-5 41632 0 3.18695E-5
17-35470091-G-A p.Gly2013Gly synonymous ACACA 1 83258 1.20109E-5 41629 0 NA
17-35470094-A-T p.Gly2012Gly synonymous ACACA 2 83258 2.40217E-5 41629 0 8.24606E-6
17-35470094-A-G p.Gly2012Gly synonymous ACACA 1 83258 1.20109E-5 41629 0 NA
17-35470121-G-A p.Tyr2003Tyr synonymous ACACA 2 83270 2.40183E-5 41635 0 8.25001E-6
17-35470147-C-T p.Glu1995Lys missense ACACA 1 83248 1.20123E-5 41624 0 3.97883E-6
17-35470162-C-A p.Val1990Leu missense ACACA 1 83262 1.20103E-5 41631 0 NA
17-35470163-A-T p.Ile1989Ile synonymous ACACA 2 83252 2.40234E-5 41626 0 3.18431E-5
17-35470172-A-C p.Gly1986Gly synonymous ACACA 1 83236 1.2014E-5 41618 0 1.59142E-5
17-35470193-G-A p.Tyr1979Tyr synonymous ACACA 1 83134 1.20288E-5 41567 0 4.1914E-5
17-35470206-G-A c.5930-6C>T splice_region ACACA 5 82940 6.02845E-5 41470 0 5.73248E-4
17-35478269-C-G c.5929+8G>C splice_region ACACA 1 83040 1.20424E-5 41520 0 NA
17-35478271-A-C c.5929+6T>G splice_region ACACA 1 83068 1.20383E-5 41534 0 3.97931E-6
17-35478286-C-T p.Gly1974Arg missense ACACA 1 83116 1.20314E-5 41558 0 NA
17-35478296-G-A p.Gly1970Gly synonymous ACACA 2 83130 2.40587E-5 41565 1 3.9794E-6
17-35478317-C-A p.Met1963Ile missense ACACA 1 83156 1.20256E-5 41578 0 NA
17-35478332-T-C p.Glu1958Glu synonymous ACACA 1 83108 1.20325E-5 41554 0 6.36983E-5
17-35478338-G-A p.Asn1956Asn synonymous ACACA 3 83064 3.61167E-5 41532 0 8.239E-6
17-35478339-T-C p.Asn1956Ser missense ACACA 1 83062 1.20392E-5 41531 0 6.37308E-5
17-35478341-G-A p.Phe1955Phe synonymous ACACA 1 83078 1.20369E-5 41539 0 NA
17-35478348-T-C p.Lys1953Arg missense ACACA 1 83066 1.20386E-5 41533 0 NA
17-35478362-T-C p.Thr1948Thr synonymous ACACA 81518 81630 0.998628 40815 40705 0.999473
17-35478365-C-T p.Lys1947Lys synonymous ACACA 2 82958 2.41086E-5 41479 0 5.03525E-4
17-35478389-A-C p.Val1939Val synonymous ACACA 1 82684 1.20942E-5 41342 0 8.27417E-6
17-35478391-C-G p.Val1939Leu missense ACACA 1 82680 1.20948E-5 41340 0 3.98508E-6
17-35478412-T-C p.Ile1932Val missense+splice_region ACACA 14 82290 1.7013E-4 41145 0 5.04032E-4
17-35478414-T-TTGGCTTC c.5794-3_5794-2insGAAGCCA splice_region ACACA 2 82234 2.43208E-5 41117 1 NA
17-35479498-T-C p.Glu1916Glu synonymous ACACA 1 83310 1.20034E-5 41655 0 NA
17-35479508-C-T p.Arg1913Gln missense ACACA 1 83298 1.20051E-5 41649 0 3.97725E-6
17-35479552-G-GGCTCTACCAACCACCACAGTCTGTGCCCAGGGCTGC c.5697-4_5697-3insGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGC splice_region ACACA 2 83170 2.40471E-5 41585 1 NA
17-35479552-G-GGCTCTACCAACCACCACAGTCTGTGCCC c.5697-4_5697-3insGGGCACAGACTGTGGTGGTTGGTAGAGC splice_region ACACA 2 83170 2.40471E-5 41585 1 NA
17-35482618-C-A c.5696+1G>T splice_donor ACACA 1 82462 1.21268E-5 41231 0 NA
17-35482627-A-G p.Gly1896Gly synonymous ACACA 17 82596 2.05821E-4 41298 0 3.27615E-4
17-35482683-C-CA p.Asp1878fs frameshift ACACA 1 82708 1.20907E-5 41354 0 NA
17-35482685-A-G p.Phe1877Ser missense ACACA 1 82710 1.20904E-5 41355 0 NA
17-35482686-A-G p.Phe1877Leu missense ACACA 1 82694 1.20928E-5 41347 0 7.98435E-6
17-35482695-T-C p.Ser1874Gly missense ACACA 9 82578 1.08988E-4 41289 0 1.31932E-4
17-35482698-A-G p.Leu1873Leu synonymous ACACA 2 82552 2.42272E-5 41276 0 3.9992E-6
17-35486302-C-T p.Arg1863His missense ACACA 2 83004 2.40952E-5 41502 0 3.30033E-5
17-35486315-T-A p.Met1859Leu missense ACACA 2 83044 2.40836E-5 41522 0 8.24946E-6
17-35486327-C-T p.Asp1855Asn missense ACACA 2 83064 2.40778E-5 41532 0 6.37105E-5
17-35486328-G-A p.Tyr1854Tyr synonymous ACACA 3 83068 3.6115E-5 41534 0 3.18695E-5
17-35486354-C-T p.Glu1846Lys missense ACACA 1 83086 1.20357E-5 41543 0 8.25396E-6
17-35486355-G-A p.Ile1845Ile synonymous ACACA 1 83084 1.2036E-5 41542 0 1.65079E-5
17-35486360-T-A p.Ile1844Phe missense ACACA 1 83092 1.20349E-5 41546 0 6.36943E-5
17-35486368-A-G p.Ile1841Thr missense ACACA 1 83074 1.20375E-5 41537 0 3.97969E-6
17-35486382-G-A p.Asn1836Asn synonymous ACACA 1 83010 1.20467E-5 41505 0 NA
17-35486395-A-G p.Val1832Ala missense ACACA 3 82976 3.6155E-5 41488 0 9.55475E-5
17-35486404-T-C p.His1829Arg missense ACACA 2 82898 2.4126E-5 41449 0 3.9814E-6
17-35486408-C-T p.Val1828Met missense ACACA 3 82822 3.62223E-5 41411 0 2.38949E-5
17-35486409-G-A p.Ser1827Ser splice_region+synonymous ACACA 2 82798 2.41552E-5 41399 0 3.18451E-5
17-35486994-G-A c.5478+7C>T splice_region ACACA 2 83174 2.4046E-5 41587 0 1.1933E-5
17-35487017-A-T p.Leu1821Gln missense ACACA 1 83292 1.2006E-5 41646 0 NA
17-35487040-C-T p.Gly1813Gly synonymous ACACA 1 83332 1.20002E-5 41666 0 NA
17-35487062-G-C p.Thr1806Ser missense ACACA 1 83366 1.19953E-5 41683 0 NA
17-35487082-G-C p.Asn1799Lys missense ACACA 2 83380 2.39866E-5 41690 0 3.97659E-6
17-35487097-G-T p.Ile1794Ile synonymous ACACA 1 83364 1.19956E-5 41682 0 NA
17-35487100-G-GC p.Ile1794fs frameshift ACACA 1 83362 1.19959E-5 41681 0 NA
17-35487116-T-C p.Asn1788Ser missense ACACA 11 83346 1.3198E-4 41673 0 9.55657E-5
17-35487124-G-A p.Tyr1785Tyr synonymous ACACA 2 83342 2.39975E-5 41671 0 NA
17-35487127-C-G p.Val1784Val synonymous ACACA 6 83340 7.19942E-5 41670 0 9.5584E-5
17-35487134-C-T p.Arg1782Gln missense ACACA 1 83340 1.1999E-5 41670 0 4.37511E-5
17-35487136-C-T p.Gly1781Gly synonymous ACACA 1 83332 1.20002E-5 41666 0 NA
17-35487139-G-A c.-49C>T 5_prime_UTR_premature_start_codon_gain ACACA 11 83322 1.32018E-4 41661 0 0.00503525
17-35487148-G-C c.5335-4C>G splice_region ACACA 9 83292 1.08054E-4 41646 0 9.55475E-5
17-35506809-T-A c.-76A>T 5_prime_UTR_premature_start_codon_gain ACACA 1 83370 1.19947E-5 41685 0 1.64764E-5
17-35506842-G-A p.Thr1760Thr synonymous ACACA 2 83352 2.39946E-5 41676 0 NA
17-35506847-T-G p.Arg1759Arg synonymous ACACA 3 83348 3.59937E-5 41674 0 NA
17-35506859-G-T p.Arg1755Arg synonymous ACACA 1 83322 1.20016E-5 41661 0 NA
17-35506881-A-G p.Ile1747Ile synonymous ACACA 2 83272 2.40177E-5 41636 0 8.24402E-6
17-35506889-G-A p.Arg1745Trp missense ACACA 2 83236 2.40281E-5 41618 0 6.36862E-5
17-35506893-C-T c.-160G>A 5_prime_UTR_premature_start_codon_gain ACACA 2 83224 2.40315E-5 41612 0 5.96811E-5
17-35506894-G-A p.Thr1743Met missense ACACA 1 83212 1.20175E-5 41606 0 2.47594E-5
17-35506905-A-AGTCAATGGGCAGAAAAGATGGAGGGAGAGGGG c.5224-8_5224-7insCCCCTCTCCCTCCATCTTTTCTGCCCATTGAC splice_region ACACA 1 83126 1.20299E-5 41563 0 NA
17-35508203-TTTCACATTCTGGAAAGA-T c.5223+6_5223+22delTCTTTCCAGAATGTGAA splice_region ACACA 1 83144 1.20273E-5 41572 0 NA
17-35508224-AC-A c.5223+1delG splice_donor ACACA 1 83160 1.2025E-5 41580 0 NA
17-35508234-T-A p.Ile1739Phe missense ACACA 1 83150 1.20265E-5 41575 0 NA
17-35508258-A-G p.Leu1731Leu synonymous ACACA 1 83104 1.20331E-5 41552 0 6.37024E-5
17-35508274-A-AATG p.Ile1725dup disruptive_inframe_insertion ACACA 1 83056 1.20401E-5 41528 0 NA
17-35508277-C-T p.Met1724Ile missense ACACA 2 83034 2.40865E-5 41517 0 NA
17-35508301-G-C p.Pro1716Pro synonymous ACACA 21 82994 2.5303E-4 41497 0 0.0020141
17-35508301-G-A p.Pro1716Pro synonymous ACACA 2 82994 2.40981E-5 41497 0 4.12528E-5
17-35508345-A-T p.Tyr1702Asn missense+splice_region ACACA 1 83010 1.20467E-5 41505 0 NA
17-35508353-G-A c.5103-7C>T splice_region ACACA 1 83016 1.20459E-5 41508 0 8.27075E-6
17-35512598-T-C c.5102+7A>G splice_region ACACA 2 82700 2.41838E-5 41350 0 NA
17-35512602-T-G c.5102+3A>C splice_region ACACA 1 82766 1.20823E-5 41383 0 3.1841E-5
17-35512608-G-T p.Ser1700Tyr missense ACACA 1 82818 1.20747E-5 41409 0 NA
17-35512619-A-G p.Asp1696Asp synonymous ACACA 1 82912 1.2061E-5 41456 0 6.36983E-5
17-35512627-C-T p.Val1694Met missense ACACA 3 82946 3.61681E-5 41473 0 3.18532E-5
17-35512680-G-A p.Thr1676Ile missense ACACA 1 82934 1.20578E-5 41467 0 4.00141E-6
17-35512684-G-T p.Leu1675Met missense ACACA 1 82922 1.20595E-5 41461 0 NA
17-35512695-C-G p.Arg1671Thr missense ACACA 1 82866 1.20677E-5 41433 0 NA
17-35512700-T-C p.Gly1669Gly splice_region+synonymous ACACA 1 82824 1.20738E-5 41412 0 8.25941E-6
17-35512704-T-TTGTAAGGATCCTCAGGATCTACCCAG c.5005-3_5005-2insCTGGGTAGATCCTGAGGATCCTTACA splice_region ACACA 2 82786 2.41587E-5 41393 1 NA
17-35518514-T-C c.*64A>G splice_region ACACA 1 64296 1.55531E-5 32148 0 NA
17-35518578-T-G p.Ter236Tyrext*? stop_lost ACACA 4 77340 5.17197E-5 38670 0 7.35366E-5
17-35518579-T-C p.Ter236Ter stop_retained ACACA 10 77446 1.29122E-4 38723 0 1.15527E-4
17-35518590-A-G p.Tyr232Tyr synonymous ACACA 11 79024 1.39198E-4 39512 0 1.94118E-4
17-35518600-AT-A p.Ile229fs frameshift ACACA 1 79900 1.25156E-5 39950 0 NA
17-35518601-T-A p.Ile229Phe missense ACACA 1 80034 1.24947E-5 40017 0 9.45063E-6
17-35518606-G-T p.Ser227* stop_gained ACACA 1 80304 1.24527E-5 40152 0 9.57185E-6
17-35518612-A-C p.Leu225* stop_gained ACACA 1 80864 1.23664E-5 40432 0 NA
17-35518614-A-G p.Gly224Gly synonymous ACACA 1 81028 1.23414E-5 40514 0 NA
17-35518617-T-C p.Arg223Arg synonymous ACACA 1 81358 1.22914E-5 40679 0 NA
17-35518632-C-T p.Arg218Arg synonymous ACACA 1 82374 1.21398E-5 41187 0 4.20249E-6
17-35518642-C-A p.Cys215Phe missense ACACA 1 82700 1.20919E-5 41350 0 NA
17-35518655-C-T p.Gly211Ser missense ACACA 1 82930 1.20584E-5 41465 0 NA
17-35518665-CT-C p.Lys207fs frameshift ACACA 1 83066 1.20386E-5 41533 0 NA
17-35518672-T-C p.Tyr205Cys missense ACACA 282 83076 0.00339448 41538 1 0.035
17-35518677-T-C p.Ile203Met missense ACACA 1 83154 1.20259E-5 41577 0 4.07694E-6
17-35518679-T-C p.Ile203Val missense ACACA 1 83174 1.2023E-5 41587 0 1.66892E-5
17-35518718-C-G p.Val1661Leu missense ACACA 1 83258 1.20109E-5 41629 0 8.29352E-6
17-35518722-G-A c.-291C>T 5_prime_UTR_premature_start_codon_gain ACACA 1 83264 1.201E-5 41632 0 6.37024E-5
17-35518728-A-G p.His1657His synonymous ACACA 3 83270 3.60274E-5 41635 0 3.98727E-6
17-35518796-G-A p.Arg1635Cys missense ACACA 1 83240 1.20135E-5 41620 0 NA
17-35518811-C-T p.Ala1630Thr missense ACACA 1 83224 1.20158E-5 41612 0 NA
17-35518824-G-A p.Ser1625Ser synonymous ACACA 2 83208 2.40361E-5 41604 0 3.1841E-5
17-35518828-G-C p.Ala1624Gly missense ACACA 1 83206 1.20184E-5 41603 0 NA
17-35518828-G-A p.Ala1624Val missense ACACA 1 83206 1.20184E-5 41603 0 7.95684E-6
17-35518829-C-T p.Ala1624Thr missense ACACA 3 83210 3.60534E-5 41605 0 2.47125E-5
17-35518842-C-T p.Leu1619Leu synonymous ACACA 1 83194 1.20201E-5 41597 0 2.47133E-5
17-35518851-T-C p.Gln1616Gln synonymous ACACA 1 83174 1.2023E-5 41587 0 0.00151057
17-35518863-G-A p.Ser1612Ser synonymous ACACA 1 83120 1.20308E-5 41560 0 8.23859E-6
17-35518868-C-CA p.Gly1611fs frameshift ACACA 1 83100 1.20337E-5 41550 0 NA
17-35518873-C-T p.Arg1609Gln missense ACACA 1 83092 1.20349E-5 41546 0 1.59171E-5
17-35518894-A-G p.Ile1602Thr missense ACACA 1 83004 1.20476E-5 41502 0 8.24063E-6
17-35518946-T-G p.Lys1585Gln missense ACACA 1 82842 1.20712E-5 41421 0 NA
17-35536202-T-A p.Glu1578Val missense+splice_region ACACA 1 83166 1.20241E-5 41583 0 NA
17-35536234-C-T p.Leu1567Leu synonymous ACACA 5 83244 6.00644E-5 41622 0 3.18512E-5
17-35536241-C-T p.Gly1565Asp missense ACACA 1 83270 1.20091E-5 41635 0 3.9781E-6
17-35536243-T-C p.Gln1564Gln synonymous ACACA 1 83274 1.20085E-5 41637 0 8.24035E-6
17-35536248-C-T p.Asp1563Asn missense ACACA 2 83280 2.40154E-5 41640 0 4.37588E-5
17-35536255-T-C p.Val1560Val synonymous ACACA 1 83280 1.20077E-5 41640 0 NA
17-35536267-G-A p.Tyr1556Tyr synonymous ACACA 1 83300 1.20048E-5 41650 0 3.18253E-5
17-35536273-C-T p.Leu1554Leu synonymous ACACA 1 83316 1.20025E-5 41658 0 1.64826E-5
17-35536278-T-G p.Met1553Leu missense ACACA 3 83328 3.60023E-5 41664 0 8.24131E-6
17-35536279-G-A p.Asp1552Asp synonymous ACACA 4 83326 4.80042E-5 41663 0 1.91058E-4
17-35536297-A-G p.Ser1546Ser synonymous ACACA 8 83316 9.602E-5 41658 0 0.00251762
17-35536300-T-A p.Pro1545Pro synonymous ACACA 1 83320 1.20019E-5 41660 0 5.03525E-4
17-35536302-G-C p.Pro1545Ala missense ACACA 1 83318 1.20022E-5 41659 0 NA
17-35536311-C-T p.Ala1542Thr missense ACACA 1 83308 1.20036E-5 41654 0 6.25E-4
17-35536312-T-C p.Gln1541Gln synonymous ACACA 38 83308 4.56139E-4 41654 0 0.00375
17-35536313-T-C p.Gln1541Arg missense ACACA 1 83308 1.20036E-5 41654 0 NA
17-35536323-T-C p.Met1538Val missense ACACA 2 83306 2.40079E-5 41653 0 3.18492E-5
17-35536327-C-T p.Glu1536Glu synonymous ACACA 5 83302 6.00226E-5 41651 0 1.55156E-4
17-35536341-T-C p.Ile1532Val missense ACACA 1 83276 1.20083E-5 41638 0 NA
17-35536352-T-C c.4588-5A>G splice_region ACACA 2 83220 2.40327E-5 41610 0 6.37146E-5
17-35536354-G-C c.4588-7C>G splice_region ACACA 1 83202 1.20189E-5 41601 0 3.97943E-6
17-35538160-G-T p.Ile1523Ile synonymous ACACA 3 83322 3.60049E-5 41661 0 NA
17-35538166-A-G p.Tyr1521Tyr synonymous ACACA 1 83332 1.20002E-5 41666 0 NA
17-35538192-G-A p.Gln1513* stop_gained ACACA 1 83338 1.19993E-5 41669 0 NA
17-35538303-G-GC c.4432-7_4432-6insG splice_region ACACA 3 83272 3.60265E-5 41636 0 3.30104E-5
17-35538304-G-GA c.4432-8_4432-7insT splice_region ACACA 526 83218 0.00632075 41609 15 0.011502
17-35538304-G-C c.4432-7C>G splice_region ACACA 1729 83184 0.0207852 41592 28 0.0364682
17-35538304-G-A c.4432-7C>T splice_region ACACA 4 83270 4.80365E-5 41635 0 3.55644E-5
17-35538305-A-G c.4432-8T>C splice_region ACACA 2 83264 2.402E-5 41632 0 6.44662E-5
17-35545210-A-C c.4431+7T>G splice_region ACACA 4 83252 4.80469E-5 41626 0 6.25E-4
17-35545211-T-C c.4431+6A>G splice_region ACACA 2 83262 2.40206E-5 41631 0 3.18451E-5
17-35545280-G-A p.Asn1456Asn synonymous ACACA 2 83386 2.39848E-5 41693 0 3.18634E-5
17-35545305-A-G p.Ile1448Thr missense ACACA 1 83374 1.19941E-5 41687 0 NA
17-35545306-T-C p.Ile1448Val missense ACACA 1 83376 1.19939E-5 41688 0 NA
17-35545309-C-T p.Ala1447Thr missense ACACA 3 83374 3.59824E-5 41687 0 3.18552E-5
17-35545323-G-A p.Thr1442Met missense ACACA 5 83376 5.99693E-5 41688 0 3.29761E-5
17-35545327-G-A p.Leu1441Leu synonymous ACACA 2 83376 2.39877E-5 41688 0 1.64861E-5
17-35545328-G-T p.Arg1440Arg synonymous ACACA 1 83376 1.19939E-5 41688 0 1.64851E-5
17-35545330-G-A p.Arg1440Cys missense ACACA 1 83378 1.19936E-5 41689 0 NA
17-35545361-G-A p.Arg1429Arg synonymous ACACA 2 83356 2.39935E-5 41678 0 3.18512E-5
17-35545362-C-T p.Arg1429His missense ACACA 1 83354 1.1997E-5 41677 0 NA
17-35545366-A-G p.Leu1428Leu synonymous ACACA 2 83352 2.39946E-5 41676 0 NA
17-35545382-T-C p.Gly1422Gly synonymous ACACA 4 83310 4.80134E-5 41655 0 3.18471E-5
17-35545390-G-A p.Arg1420Trp missense ACACA 1 83270 1.20091E-5 41635 0 NA
17-35545414-C-T p.Glu1412Lys missense ACACA 2 82944 2.41127E-5 41472 0 8.23913E-6
17-35548052-GA-G c.4227+8delT splice_region ACACA 2 83276 2.40165E-5 41638 0 NA
17-35548078-T-C p.Ile1404Val missense ACACA 1 83306 1.20039E-5 41653 0 NA
17-35548088-C-T p.Val1400Val synonymous ACACA 1 83310 1.20034E-5 41655 0 NA
17-35548112-A-G p.Cys1392Cys synonymous ACACA 1 83306 1.20039E-5 41653 0 NA
17-35548119-G-C p.Thr1390Ser missense ACACA 10 83306 1.20039E-4 41653 0 NA
17-35548122-C-T p.Arg1389His missense ACACA 2 83296 2.40108E-5 41648 0 8.2526E-6
17-35548123-G-T p.Arg1389Ser missense ACACA 1 83298 1.20051E-5 41649 0 3.97918E-6
17-35548127-A-G p.Asn1387Asn synonymous ACACA 2 83296 2.40108E-5 41648 0 7.95811E-6
17-35548136-G-A p.Asn1384Asn synonymous ACACA 4 83276 4.8033E-5 41638 0 2.47721E-4
17-35548165-C-A p.Ala1375Ser missense ACACA 3 83214 3.60516E-5 41607 0 7.96413E-6
17-35548202-T-C p.Glu1362Glu synonymous ACACA 1 83078 1.20369E-5 41539 0 3.98422E-6
17-35548205-A-G p.Phe1361Phe synonymous ACACA 1 83072 1.20378E-5 41536 0 NA
17-35549023-G-C c.4071+8C>G splice_region ACACA 7 82838 8.45023E-5 41419 0 1.98646E-4
17-35549027-C-T c.4071+4G>A splice_region ACACA 1 82922 1.20595E-5 41461 0 3.18796E-5
17-35549037-G-A p.Val1355Val synonymous ACACA 1 82978 1.20514E-5 41489 0 8.25709E-6
17-35549037-G-C p.Val1355Val synonymous ACACA 1 82978 1.20514E-5 41489 0 1.99098E-5
17-35549109-C-T p.Lys1331Lys synonymous ACACA 4 83064 4.81556E-5 41532 0 8.24362E-6
17-35549121-G-A p.Leu1327Leu synonymous ACACA 14 83030 1.68614E-4 41515 0 1.35384E-4
17-35549123-G-C p.Leu1327Val missense ACACA 35 83038 4.21494E-4 41519 0 0.008125
17-35549157-G-C p.Ala1315Ala synonymous ACACA 1 82984 1.20505E-5 41492 0 NA
17-35549163-G-A p.Leu1313Leu synonymous ACACA 1 82982 1.20508E-5 41491 0 NA
17-35549173-T-C p.Asn1310Ser missense ACACA 1 82950 1.20555E-5 41475 0 NA
17-35549182-C-T p.Arg1307Gln missense ACACA 2 82932 2.41161E-5 41466 0 3.18532E-5
17-35549207-G-A p.Leu1299Leu synonymous ACACA 2 82892 2.41278E-5 41446 0 8.26706E-6
17-35549233-C-T p.Arg1290His missense ACACA 1 82704 1.20913E-5 41352 0 8.31532E-6
17-35549234-G-A p.Arg1290Cys missense ACACA 2 82682 2.41891E-5 41341 0 3.99272E-6
17-35549250-A-C c.3856-4T>G splice_region ACACA 1 82446 1.21292E-5 41223 0 NA
17-35550321-C-T p.Arg1283Arg synonymous ACACA 3 82836 3.62161E-5 41418 0 2.52615E-5
17-35550342-T-A p.Lys1276Asn missense ACACA 1 82912 1.2061E-5 41456 0 0.0031407
17-35557075-T-C c.3813+7A>G splice_region ACACA 1 82760 1.20831E-5 41380 0 1.19494E-5
17-35557079-T-C c.3813+3A>G splice_region ACACA 5 82812 6.03777E-5 41406 0 6.36902E-5
17-35557092-C-T p.Arg1268Gln missense ACACA 4 82910 4.82451E-5 41455 0 5.03525E-4
17-35557093-G-A p.Arg1268Trp missense ACACA 1 82914 1.20607E-5 41457 0 3.98184E-6
17-35557104-T-C p.Tyr1264Cys missense ACACA 1 82910 1.20613E-5 41455 0 8.29903E-6
17-35557110-A-G p.Val1262Ala missense ACACA 1 82898 1.2063E-5 41449 0 2.49025E-5
17-35557133-A-T c.3769-7T>A splice_region ACACA 1 82762 1.20828E-5 41381 0 NA
17-35557380-A-G p.Val1253Ala missense ACACA 1 83044 1.20418E-5 41522 0 3.98051E-6
17-35557396-G-A p.Arg1248Cys missense ACACA 1 83046 1.20415E-5 41523 0 8.30937E-6
17-35557403-C-G p.Gly1245Gly synonymous ACACA 1 83048 1.20412E-5 41524 0 NA
17-35557407-T-C p.His1244Arg missense ACACA 10 83034 1.20433E-4 41517 0 2.30932E-4
17-35557410-T-A p.Asp1243Val missense ACACA 1 83010 1.20467E-5 41505 0 NA
17-35557431-G-A c.3712-5C>T splice_region ACACA 61 82936 7.35507E-4 41468 0 0.00121119
17-35557432-A-G c.3712-6T>C splice_region ACACA 1 82920 1.20598E-5 41460 0 NA
17-35562700-G-C p.Phe1230Leu missense ACACA 1 82512 1.21194E-5 41256 0 8.24974E-6
17-35562703-C-A p.Met1229Ile missense ACACA 4 82560 4.84496E-5 41280 0 5.03525E-4
17-35562705-T-G p.Met1229Leu missense ACACA 2 82576 2.42201E-5 41288 0 NA
17-35562751-C-T p.Val1213Val synonymous ACACA 1 82872 1.20668E-5 41436 0 6.37105E-5
17-35562786-C-T p.Val1202Ile missense+splice_region ACACA 1 82842 1.20712E-5 41421 0 NA
17-35562793-CTCAAGAACACAAG-C c.3604-20_3604-8delCTTGTGTTCTTGA splice_region ACACA 2 82826 2.4147E-5 41413 0 8.26091E-6
17-35563718-C-T p.Thr1194Thr synonymous ACACA 3 83136 3.60855E-5 41568 0 4.96147E-5
17-35563728-G-A p.Ala1191Val missense ACACA 1 83158 1.20253E-5 41579 0 6.37267E-5
17-35563751-G-A p.Pro1183Pro synonymous ACACA 1 83152 1.20262E-5 41576 0 NA
17-35563755-G-A p.Pro1182Leu missense ACACA 1 83158 1.20253E-5 41579 0 1.19393E-5
17-35563785-T-A p.Asp1172Val missense ACACA 2 83052 2.40813E-5 41526 0 5.04032E-4
17-35563798-A-G c.3507-5T>C splice_region ACACA 2 82954 2.41097E-5 41477 0 8.36232E-6
17-35564564-G-A c.3506+7C>T splice_region ACACA 1 83190 1.20207E-5 41595 0 8.30537E-6
17-35564571-C-T p.Arg1169Lys missense+splice_region ACACA 1 83206 1.20184E-5 41603 0 NA
17-35564575-C-T p.Val1168Ile missense ACACA 15 83214 1.80258E-4 41607 0 2.03022E-4
17-35564590-T-C p.Thr1163Ala missense ACACA 1 83224 1.20158E-5 41612 0 NA
17-35564593-G-A p.Arg1162Trp missense ACACA 16 83226 1.92248E-4 41613 0 1.48736E-4
17-35564608-C-T p.Gly1157Arg missense ACACA 1 83220 1.20163E-5 41610 0 8.25491E-5
17-35564609-G-A p.Gly1156Gly synonymous ACACA 1 83220 1.20163E-5 41610 0 5.03525E-4
17-35564616-C-T p.Arg1154Gln missense ACACA 1 83242 1.20132E-5 41621 0 NA
17-35564651-T-C p.Val1142Val synonymous ACACA 2 83212 2.4035E-5 41606 0 8.24348E-6
17-35564658-C-T p.Ser1140Asn missense ACACA 2 83214 2.40344E-5 41607 0 3.18492E-5
17-35564666-A-G p.Ala1137Ala synonymous ACACA 1 83218 1.20166E-5 41609 0 NA
17-35564679-A-G p.Met1133Thr missense ACACA 2 83224 2.40315E-5 41612 0 NA
17-35564680-T-C p.Met1133Val missense ACACA 101 83222 0.00121362 41611 1 0.00254858
17-35564698-TGGA-T p.Ser1126del conservative_inframe_deletion ACACA 1 83254 1.20114E-5 41627 0 1.98926E-5
17-35564703-G-T p.Ser1125Tyr missense ACACA 1 83250 1.2012E-5 41625 0 NA
17-35564720-T-C c.3363-6A>G splice_region ACACA 1 83174 1.2023E-5 41587 0 3.97893E-6
17-35567376-G-A c.3362+5C>T splice_region ACACA 4 82986 4.82009E-5 41493 0 8.25927E-5
17-35567389-C-T p.Thr1118Thr synonymous ACACA 7 83096 8.42399E-5 41548 0 4.37724E-5
17-35567398-G-A p.Asn1115Asn synonymous ACACA 1 83092 1.20349E-5 41546 0 NA
17-35578675-T-C p.Gln1103Arg missense ACACA 1 83284 1.20071E-5 41642 0 NA
17-35578677-G-A p.Phe1102Phe synonymous ACACA 1 83282 1.20074E-5 41641 0 NA
17-35578689-A-G p.Cys1098Cys synonymous ACACA 2 83334 2.39998E-5 41667 0 NA
17-35578692-G-A p.Thr1097Thr synonymous ACACA 2 83336 2.39992E-5 41668 0 8.23968E-6
17-35578711-C-T p.Arg1091His missense ACACA 10 83376 1.19939E-4 41688 0 1.11353E-4
17-35578711-C-A p.Arg1091Leu missense ACACA 1 83376 1.19939E-5 41688 0 NA
17-35578722-G-A p.Ser1087Ser synonymous ACACA 3 83366 3.59859E-5 41683 0 3.18492E-5
17-35578744-T-C p.Tyr1080Cys missense ACACA 1 83354 1.1997E-5 41677 0 NA
17-35578761-C-A p.Val1074Val splice_region+synonymous ACACA 1 83328 1.20008E-5 41664 0 8.25042E-6
17-35578901-C-T n.44+5G>A splice_region ACACA 25 66466 3.76132E-4 33233 0 1.91192E-4
17-35578902-G-A n.44+4C>T splice_region ACACA 673 65828 0.0102236 32914 1 0.0217017
17-35578902-G-T n.44+4C>A splice_region ACACA 1 65880 1.51791E-5 32940 0 NA
17-35580429-T-C c.3219+4A>G splice_region ACACA 6 82090 7.30905E-5 41045 0 2.7872E-5
17-35580433-C-T p.Glu1073Glu splice_region+synonymous ACACA 1 82156 1.2172E-5 41078 0 NA
17-35580439-A-C p.Ala1071Ala synonymous ACACA 29 82240 3.52626E-4 41120 0 3.30435E-4
17-35580514-G-A p.Ile1046Ile synonymous ACACA 14 81954 1.70828E-4 40977 0 5.09522E-4
17-35581966-A-G p.Phe1026Leu missense ACACA 1 82894 1.20636E-5 41447 0 NA
17-35581973-C-T p.Glu1023Glu synonymous ACACA 1 82954 1.20549E-5 41477 0 2.47231E-5
17-35581988-G-A p.Arg1018Arg synonymous ACACA 2 82976 2.41034E-5 41488 0 8.2428E-6
17-35581997-A-G p.Tyr1015Tyr synonymous ACACA 2 82956 2.41092E-5 41478 0 3.18796E-5
17-35582015-G-C p.Ala1009Ala synonymous ACACA 2 82836 2.41441E-5 41418 0 8.26037E-6
17-35582028-T-TGGCGTGCTCGA c.3016-3_3016-2insTCGAGCACGCC splice_region ACACA 2 82574 2.42207E-5 41287 1 NA
17-35582030-G-C c.3016-4C>G splice_region ACACA 1 82532 1.21165E-5 41266 0 NA
17-35582032-G-A c.3016-6C>T splice_region ACACA 2 82456 2.42554E-5 41228 0 8.29669E-6
17-35582034-G-A c.3016-8C>T splice_region ACACA 13 82402 1.57763E-4 41201 0 1.27462E-4
17-35583271-G-A p.Arg1002* stop_gained ACACA 1 83312 1.20031E-5 41656 0 3.18492E-5
17-35583291-G-A p.Thr995Ile missense ACACA 3 83324 3.6004E-5 41662 0 3.97655E-6
17-35583296-C-T p.Lys993Lys synonymous ACACA 1 83338 1.19993E-5 41669 0 3.97646E-6
17-35583300-C-T p.Ser992Asn missense ACACA 1 83340 1.1999E-5 41670 0 1.59057E-5
17-35583311-T-C p.Leu988Leu synonymous ACACA 1 83344 1.19985E-5 41672 0 3.9764E-6
17-35583316-C-A p.Glu987* stop_gained ACACA 1 83350 1.19976E-5 41675 0 NA
17-35583338-A-G p.Asp979Asp synonymous ACACA 1 83340 1.1999E-5 41670 0 NA
17-35583357-C-T p.Arg973Gln missense ACACA 1 83348 1.19979E-5 41674 0 3.97659E-6
17-35583358-G-C p.Arg973Gly missense ACACA 1 83352 1.19973E-5 41676 0 3.97659E-6
17-35591882-G-A c.2901+8C>T splice_region ACACA 1 83046 1.20415E-5 41523 0 1.64894E-5
17-35591896-C-G p.Met965Ile missense ACACA 1 83092 1.20349E-5 41546 0 NA
17-35591921-G-T p.Thr957Asn missense ACACA 3 83146 3.60811E-5 41573 0 9.55414E-5
17-35591932-G-A p.His953His synonymous ACACA 15 83168 1.80358E-4 41584 0 0.00100705
17-35591935-A-G p.Ser952Ser synonymous ACACA 1 83164 1.20244E-5 41582 0 NA
17-35591953-T-C p.Val946Val synonymous ACACA 1 83154 1.20259E-5 41577 0 NA
17-35591956-A-G p.Thr945Thr synonymous ACACA 1 83154 1.20259E-5 41577 0 8.24144E-6
17-35591991-C-T p.Ala934Thr missense ACACA 1 83140 1.20279E-5 41570 0 8.24144E-6
17-35592001-T-C p.Lys930Lys synonymous ACACA 1 83158 1.20253E-5 41579 0 NA
17-35592004-G-C p.Asp929Glu missense ACACA 171 83152 0.00205647 41576 3 0.00352467
17-35592004-G-T p.Asp929Glu missense ACACA 2 83154 2.40518E-5 41577 0 NA
17-35592018-C-T c.2777-4G>A splice_region ACACA 1 83130 1.20294E-5 41565 0 3.18817E-5
17-35592020-C-T c.2777-6G>A splice_region ACACA 221 83132 0.00265842 41566 4 0.00538628
17-35592022-C-G c.2777-8G>C splice_region ACACA 1 83130 1.20294E-5 41565 0 NA
17-35597394-T-G p.Asn925Thr missense+splice_region ACACA 1 83178 1.20224E-5 41589 0 NA
17-35597402-TTG-T p.Gln922fs frameshift ACACA 5 83198 6.00976E-5 41599 0 NA
17-35597404-G-T p.Gln922Lys missense ACACA 5 83194 6.01005E-5 41597 0 6.37064E-5
17-35597416-G-A p.Arg918* stop_gained ACACA 1 83210 1.20178E-5 41605 0 NA
17-35597420-G-A p.Tyr916Tyr synonymous ACACA 1 83216 1.20169E-5 41608 0 NA
17-35597423-C-T p.Gln915Gln synonymous ACACA 1 83208 1.20181E-5 41604 0 8.48205E-6
17-35597455-T-C p.Met905Val missense ACACA 1 83196 1.20198E-5 41598 0 3.99125E-6
17-35598895-A-T p.Thr887Thr synonymous ACACA 1 83152 1.20262E-5 41576 0 NA
17-35598913-T-C p.Glu881Glu synonymous ACACA 4 83176 4.80908E-5 41588 0 5.03525E-4
17-35598919-T-C p.Glu879Glu synonymous ACACA 1 83176 1.20227E-5 41588 0 1.65186E-5
17-35598924-A-G p.Ser878Pro missense ACACA 1 83170 1.20236E-5 41585 0 NA
17-35598930-G-A p.Arg876Trp missense ACACA 7 83168 8.4167E-5 41584 0 5.03525E-4
17-35598931-G-A p.Asn875Asn synonymous ACACA 1 83176 1.20227E-5 41588 0 NA
17-35598943-T-C p.Ala871Ala synonymous ACACA 3 83148 3.60802E-5 41574 0 1.03448E-4
17-35598955-T-C p.Leu867Leu synonymous ACACA 1 83116 1.20314E-5 41558 0 3.97893E-6
17-35600280-T-C c.2586+7A>G splice_region ACACA 1 83026 1.20444E-5 41513 0 8.23818E-6
17-35600281-A-G c.2586+6T>C splice_region ACACA 8 83062 9.63136E-5 41531 0 2.3869E-5
17-35600308-G-A p.Leu855Leu synonymous ACACA 5 83242 6.00658E-5 41621 0 1.19317E-4
17-35600320-G-A p.Ile851Ile synonymous ACACA 5 83274 6.00428E-5 41637 0 4.94185E-5
17-35600329-A-T p.Ala848Ala synonymous ACACA 4 83284 4.80284E-5 41642 0 4.94185E-5
17-35600346-C-G p.Glu843Gln missense ACACA 1 83306 1.20039E-5 41653 0 NA
17-35600355-T-C p.Ile840Val missense ACACA 3 83302 3.60135E-5 41651 0 3.97693E-6
17-35600369-T-C p.Asn835Ser missense ACACA 5 83314 6.00139E-5 41657 0 1.64728E-5
17-35600370-T-TG p.Asn835fs frameshift ACACA 1 83310 1.20034E-5 41655 0 NA
17-35600372-G-T p.Pro834His missense ACACA 2 83312 2.40061E-5 41656 0 6.37186E-5
17-35600372-G-C p.Pro834Arg missense ACACA 1 83312 1.20031E-5 41656 0 6.37186E-5
17-35600380-G-A p.Arg831Arg synonymous ACACA 1 83304 1.20042E-5 41652 0 8.23642E-6
17-35600394-T-C p.Ser827Gly missense ACACA 2 83282 2.40148E-5 41641 0 7.95387E-5
17-35600444-G-C p.Thr810Ser missense ACACA 1 83182 1.20218E-5 41591 0 NA
17-35600448-TC-T p.Met808fs frameshift ACACA 3 83182 3.60655E-5 41591 0 NA
17-35600464-C-G p.Trp803Cys missense ACACA 1 83084 1.2036E-5 41542 0 NA
17-35600469-C-G p.Asp802His missense ACACA 69 83054 8.30785E-4 41527 0 0.0022573
17-35601507-G-C p.Ser798Arg missense ACACA 2 83284 2.40142E-5 41642 0 NA
17-35601534-G-C p.Tyr789* stop_gained ACACA 1 83334 1.19999E-5 41667 0 NA
17-35601546-T-A p.Val785Val synonymous ACACA 1 83348 1.19979E-5 41674 0 5.96516E-5
17-35601550-T-C p.Asn784Ser missense ACACA 1 83356 1.19967E-5 41678 0 8.2371E-6
17-35601561-A-T p.Asp780Glu missense ACACA 1 83360 1.19962E-5 41680 0 8.2371E-6
17-35601576-G-A p.Phe775Phe synonymous ACACA 1 83372 1.19944E-5 41686 0 NA
17-35601579-C-T p.Val774Val synonymous ACACA 2 83368 2.399E-5 41684 0 3.97687E-6
17-35601584-G-A p.Arg773* stop_gained ACACA 1 83370 1.19947E-5 41685 0 NA
17-35601597-G-A p.Gly768Gly synonymous ACACA 1 83374 1.19941E-5 41687 0 NA
17-35601601-C-T p.Arg767Lys missense ACACA 4 83380 4.79731E-5 41690 0 3.18492E-5
17-35601602-T-C p.Arg767Gly missense ACACA 2 83378 2.39871E-5 41689 0 8.23683E-6
17-35601609-C-T p.Thr764Thr synonymous ACACA 1 83382 1.1993E-5 41691 0 8.23669E-6
17-35601609-C-A p.Thr764Thr synonymous ACACA 1 83382 1.1993E-5 41691 0 3.18613E-5
17-35601610-G-A p.Thr764Met missense ACACA 1 83380 1.19933E-5 41690 0 8.23683E-6
17-35601622-C-T p.Arg760Gln missense ACACA 1 83370 1.19947E-5 41685 0 3.97649E-6
17-35601623-G-A p.Arg760Trp missense ACACA 6 83372 7.19666E-5 41686 0 7.32391E-4
17-35601654-T-C c.2251-4A>G splice_region ACACA 2 83346 2.39964E-5 41673 0 3.97636E-6
17-35602013-G-C p.Pro745Ala missense ACACA 2 83158 2.40506E-5 41579 0 3.97684E-6
17-35602014-G-A p.Asn744Asn synonymous ACACA 4 83166 4.80966E-5 41583 0 3.18492E-5
17-35602018-T-C p.Asp743Gly missense ACACA 1 83192 1.20204E-5 41596 0 NA
17-35602049-G-T p.Pro733Thr missense ACACA 1 83290 1.20062E-5 41645 0 NA
17-35602050-G-T p.Asp732Glu missense ACACA 1 83300 1.20048E-5 41650 0 8.23669E-6
17-35602053-A-G p.Leu731Leu synonymous ACACA 1 83298 1.20051E-5 41649 0 2.47105E-5
17-35602055-G-C p.Leu731Val missense ACACA 2 83308 2.40073E-5 41654 0 NA
17-35602070-G-A p.Arg726* stop_gained ACACA 3 83314 3.60084E-5 41657 0 NA
17-35602070-G-T p.Arg726Arg synonymous ACACA 4 83314 4.80111E-5 41657 0 0.00100705
17-35602076-C-T p.Val724Ile missense ACACA 5 83314 6.00139E-5 41657 0 1.64745E-5
17-35602113-C-T p.Met711Ile missense ACACA 1 83232 1.20146E-5 41616 0 NA
17-35602119-C-T p.Met709Ile missense ACACA 2 83216 2.40338E-5 41608 0 NA
17-35602128-T-C p.Val706Val splice_region+synonymous ACACA 2 83156 2.40512E-5 41578 0 8.24402E-6
17-35602132-T-TCAATCTCAGCATAGCACTGGCCGGC c.2116-3_2116-2insGCCGGCCAGTGCTATGCTGAGATTG splice_region ACACA 2 83110 2.40645E-5 41555 1 NA
17-35602134-T-C c.2116-4A>G splice_region ACACA 1 83084 1.2036E-5 41542 0 8.24701E-6
17-35603766-G-A p.Ala697Ala synonymous ACACA 26 83292 3.12155E-4 41646 0 2.23058E-4
17-35603767-G-A p.Ala697Val missense ACACA 2 83300 2.40096E-5 41650 0 8.23642E-6
17-35603776-T-C p.His694Arg missense ACACA 1 83348 1.19979E-5 41674 0 3.97725E-6
17-35603795-T-C p.Ile688Val missense ACACA 2 83386 2.39848E-5 41693 0 3.18431E-5
17-35603808-C-T p.Lys683Lys synonymous ACACA 7 83390 8.39429E-5 41695 0 6.58935E-5
17-35603809-T-C p.Lys683Arg missense ACACA 1 83388 1.19921E-5 41694 0 NA
17-35603828-G-A p.Arg677Cys missense ACACA 2 83376 2.39877E-5 41688 0 2.47101E-5
17-35603835-C-T p.Ser674Ser synonymous ACACA 7 83378 8.3955E-5 41689 0 1.15323E-4
17-35603853-C-T p.Glu668Glu synonymous ACACA 1 83378 1.19936E-5 41689 0 NA
17-35603855-C-G p.Glu668Gln missense ACACA 2 83374 2.39883E-5 41687 0 3.97659E-6
17-35603888-G-A p.Arg657Cys missense ACACA 1 83346 1.19982E-5 41673 0 3.97671E-6
17-35603896-G-C c.1965-4C>G splice_region ACACA 2 83330 2.4001E-5 41665 0 NA
17-35604825-T-TA n.339dupT splice_region ACACA 1 79176 1.26301E-5 39588 0 NA
17-35604828-C-T n.337G>A splice_region ACACA 1 78968 1.26634E-5 39484 0 5.77242E-4
17-35604928-CA-C c.1964+6delT splice_region ACACA 10 83238 1.20137E-4 41619 0 NA
17-35604932-T-C c.1964+3A>G splice_region ACACA 2 83232 2.40292E-5 41616 0 7.95513E-6
17-35604955-A-G p.Tyr648Tyr synonymous ACACA 1 83288 1.20065E-5 41644 0 NA
17-35604958-C-T p.Thr647Thr synonymous ACACA 5 83296 6.00269E-5 41648 0 9.56999E-5
17-35604964-A-G p.Tyr645Tyr synonymous ACACA 1 83304 1.20042E-5 41652 0 5.03525E-4
17-35604980-T-TAGGACAAGAGC p.Tyr640fs frameshift ACACA 1 83328 1.20008E-5 41664 0 3.97678E-6
17-35604991-C-T p.Leu636Leu synonymous ACACA 1 83306 1.20039E-5 41653 0 3.18898E-5
17-35605000-G-A p.Asp633Asp synonymous ACACA 10 83302 1.20045E-4 41651 0 8.23805E-5
17-35605009-C-T p.Arg630Arg synonymous ACACA 2 83314 2.40056E-5 41657 0 2.78383E-5
17-35605010-C-T p.Arg630Gln missense ACACA 1 83310 1.20034E-5 41655 0 8.23791E-6
17-35605011-G-A p.Arg630Trp missense ACACA 3 83306 3.60118E-5 41653 0 2.47162E-5
17-35605032-A-G p.Cys623Arg missense ACACA 1 83294 1.20057E-5 41647 0 3.18613E-5
17-35605037-C-A p.Gly621Val missense ACACA 2 83306 2.40079E-5 41653 0 NA
17-35605066-G-A p.Ser611Ser synonymous ACACA 1 83276 1.20083E-5 41638 0 NA
17-35605080-C-T p.Val607Met missense+splice_region ACACA 1 83266 1.20097E-5 41633 0 NA
17-35605520-A-C p.Leu605Leu synonymous ACACA 1 82966 1.20531E-5 41483 0 NA
17-35605520-A-G p.Leu605Leu synonymous ACACA 1 82966 1.20531E-5 41483 0 NA
17-35605532-G-C p.Val601Val synonymous ACACA 2 83026 2.40888E-5 41513 0 NA
17-35605536-C-T p.Gly600Glu missense ACACA 2 83024 2.40894E-5 41512 0 NA
17-35605549-G-T p.Leu596Ile missense ACACA 2 83064 2.40778E-5 41532 0 3.97931E-6
17-35605553-A-C p.Val594Val synonymous ACACA 2 83076 2.40743E-5 41538 0 NA
17-35605560-A-G p.Val592Ala missense ACACA 2 83076 2.40743E-5 41538 0 NA
17-35605605-G-GAAC c.1737-8_1737-7insGTT splice_region ACACA 535 82904 0.00645325 41452 14 0.0108966
17-35608948-G-A p.Phe573Phe synonymous ACACA 3 83342 3.59963E-5 41671 0 1.64794E-5
17-35608957-G-A p.Val570Val synonymous ACACA 1 83346 1.19982E-5 41673 0 NA
17-35608959-C-T p.Val570Ile missense ACACA 3 83344 3.59954E-5 41672 0 5.7673E-5
17-35608960-G-A p.Ser569Ser synonymous ACACA 3 83348 3.59937E-5 41674 0 1.6478E-5
17-35608960-G-T p.Ser569Arg missense ACACA 1 83348 1.19979E-5 41674 0 NA
17-35608973-C-T p.Ser565Asn missense ACACA 2 83352 2.39946E-5 41676 0 3.1841E-5
17-35608987-G-A p.His560His synonymous ACACA 5 83366 5.99765E-5 41683 0 9.55657E-5
17-35609003-A-G p.Val555Ala missense ACACA 1 83350 1.19976E-5 41675 0 8.23791E-6
17-35609004-C-T p.Val555Met missense ACACA 1 83358 1.19964E-5 41679 0 NA
17-35609007-C-G p.Val554Leu missense ACACA 1 83352 1.19973E-5 41676 0 3.97687E-6
17-35609017-G-A p.Thr550Thr synonymous ACACA 1 83322 1.20016E-5 41661 0 7.41449E-5
17-35609023-A-C p.Pro548Pro synonymous ACACA 4 83298 4.80204E-5 41649 0 6.37064E-5
17-35609041-G-C c.1633-7C>G splice_region ACACA 2 83234 2.40286E-5 41617 0 NA
17-35609857-T-C p.Arg529Arg synonymous ACACA 1 83358 1.19964E-5 41679 0 NA
17-35609863-C-A p.Met527Ile missense ACACA 1 83358 1.19964E-5 41679 0 3.97649E-6
17-35609866-C-T p.Gln526Gln synonymous ACACA 11248 83272 0.135075 41636 949 0.226875
17-35609883-C-CT p.Glu521fs frameshift ACACA 1 83360 1.19962E-5 41680 0 NA
17-35609887-C-T p.Leu519Leu synonymous ACACA 2 83358 2.39929E-5 41679 0 8.23683E-6
17-35609911-A-T p.Thr511Thr synonymous ACACA 31 83346 3.71943E-4 41673 0 0.00100705
17-35609928-G-A p.Arg506Trp missense ACACA 3 83346 3.59945E-5 41673 0 8.23737E-6
17-35609953-C-T p.Val497Val synonymous ACACA 1 83338 1.19993E-5 41669 0 NA
17-35609968-A-G c.1482-6T>C splice_region ACACA 2 83328 2.40015E-5 41664 0 3.9769E-6
17-35614624-C-T c.1481+1G>A splice_donor ACACA 2 83026 2.40888E-5 41513 0 3.18471E-5
17-35614629-T-C p.Ile493Val missense ACACA 1 83070 1.2038E-5 41535 0 NA
17-35614729-A-G p.Val459Val synonymous ACACA 5 83188 6.01048E-5 41594 0 9.89723E-5
17-35614745-C-T p.Arg454His missense ACACA 4 83166 4.80966E-5 41583 0 3.1835E-5
17-35614746-G-A p.Arg454Cys missense ACACA 1 83168 1.20239E-5 41584 0 1.65044E-5
17-35614765-T-C p.Thr447Thr synonymous ACACA 1 83148 1.20267E-5 41574 0 3.97918E-6
17-35614794-A-G c.1318-6T>C splice_region ACACA 14 83006 1.68663E-4 41503 0 1.91046E-4
17-35615140-T-G p.Pro437Pro synonymous ACACA 1 82940 1.20569E-5 41470 0 NA
17-35615158-C-G p.Arg431Arg synonymous ACACA 1 83128 1.20296E-5 41564 0 NA
17-35615193-C-T p.Val420Ile missense ACACA 4 83200 4.80769E-5 41600 1 3.97985E-6
17-35615194-G-A p.His419His synonymous ACACA 51 83188 6.13069E-4 41594 0 0.00227246
17-35615235-G-C p.Pro406Ala missense ACACA 1 82980 1.20511E-5 41490 0 NA
17-35615240-A-G p.Val404Ala missense ACACA 1 82922 1.20595E-5 41461 0 1.64897E-5
17-35615243-C-G p.Gly403Ala missense ACACA 2 82862 2.41365E-5 41431 0 3.18593E-5
17-35615246-T-C p.Tyr402Cys missense ACACA 1 82828 1.20732E-5 41414 0 NA
17-35615275-T-C p.Leu392Leu synonymous ACACA 2 82142 2.43481E-5 41071 0 7.9727E-6
17-35615290-G-A p.Ala387Ala synonymous ACACA 1 81882 1.22127E-5 40941 0 1.19782E-5
17-35615301-A-T c.1156-6T>A splice_region ACACA 2 81708 2.44774E-5 40854 0 8.00077E-6
17-35616302-G-T p.Leu379Ile missense ACACA 2 83100 2.40674E-5 41550 0 NA
17-35616317-C-T p.Val374Met missense ACACA 1 83190 1.20207E-5 41595 0 NA
17-35616324-T-A p.Thr371Thr synonymous ACACA 2 83212 2.4035E-5 41606 0 NA
17-35616324-T-C p.Thr371Thr synonymous ACACA 2 83212 2.4035E-5 41606 0 NA
17-35616347-G-A p.Leu364Leu synonymous ACACA 1 83262 1.20103E-5 41631 0 3.97785E-6
17-35616365-G-A p.Leu358Leu synonymous ACACA 1 83298 1.20051E-5 41649 0 NA
17-35616375-G-A p.Ser354Ser synonymous ACACA 2 83302 2.4009E-5 41651 0 8.23859E-6
17-35616387-G-A p.Ser350Ser synonymous ACACA 1 83322 1.20016E-5 41661 0 NA
17-35616447-C-T p.Ala330Ala synonymous ACACA 3 83298 3.60153E-5 41649 0 0.00125
17-35616455-CAAA-C c.985-6_985-4delTTT splice_region ACACA 3 83266 3.60291E-5 41633 0 1.19311E-5
17-35616455-C-CA c.985-4_985-3insT splice_region ACACA 2 83266 2.40194E-5 41633 0 1.64804E-5
17-35616455-C-T c.985-3G>A splice_region ACACA 1 83266 1.20097E-5 41633 0 NA
17-35620604-A-G p.Phe323Ser missense ACACA 2 82858 2.41377E-5 41429 0 1.99091E-5
17-35620627-A-G p.Ala315Ala synonymous ACACA 2 82830 2.41458E-5 41415 0 NA
17-35620700-T-C p.Asn291Ser missense ACACA 1 82988 1.20499E-5 41494 0 NA
17-35620739-C-T p.Arg278His missense ACACA 16 83086 1.92572E-4 41543 0 1.73059E-4
17-35620777-T-A p.Gly265Gly synonymous ACACA 3 82882 3.6196E-5 41441 0 1.19508E-5
17-35620780-A-G p.Pro264Pro synonymous ACACA 1 82846 1.20706E-5 41423 0 2.39061E-5
17-35620785-C-G p.Val263Leu missense ACACA 3 82784 3.62389E-5 41392 0 NA
17-35620800-G-T c.775-3C>A splice_region ACACA 1 82518 1.21186E-5 41259 0 NA
17-35620802-A-G c.775-5T>C splice_region ACACA 2 82474 2.42501E-5 41237 0 3.99674E-6
17-35620805-A-G c.775-8T>C splice_region ACACA 56 82356 6.79975E-4 41178 0 0.00196672
17-35627642-C-T p.Gln258Gln splice_region+synonymous ACACA 5 82898 6.03151E-5 41449 0 9.5645E-5
17-35627646-C-A p.Arg257Ile missense ACACA 1 82954 1.20549E-5 41477 0 3.98048E-6
17-35627717-C-T p.Lys233Lys synonymous ACACA 1 83130 1.20294E-5 41565 0 3.58103E-5
17-35627735-T-C p.Gly227Gly synonymous ACACA 10 83084 1.2036E-4 41542 0 1.55226E-4
17-35627751-G-A p.Ala222Val missense+splice_region ACACA 3 82986 3.61507E-5 41493 0 0.00100705
17-35627755-T-G c.664-3A>C splice_region ACACA 181 82922 0.00218277 41461 1 0.00327336
17-35631081-T-C c.663+3A>G splice_region ACACA 1 83248 1.20123E-5 41624 0 8.24158E-6
17-35631093-A-G p.Asp218Asp synonymous ACACA 1 83268 1.20094E-5 41634 0 3.97769E-6
17-35631151-C-A p.Arg199Leu missense ACACA 2 83266 2.40194E-5 41633 0 NA
17-35631151-C-T p.Arg199His missense ACACA 1 83266 1.20097E-5 41633 0 8.23927E-6
17-35631162-A-G p.Asp195Asp synonymous ACACA 1 83228 1.20152E-5 41614 0 NA
17-35631164-C-A p.Asp195Tyr missense ACACA 9 83214 1.08155E-4 41607 0 3.18492E-4
17-35631184-C-T p.Arg188His missense ACACA 28 83030 3.37228E-4 41515 1 5.41367E-4
17-35631185-G-A p.Arg188Cys missense ACACA 3 83002 3.61437E-5 41501 0 9.55292E-5
17-35632859-G-A p.Pro181Ser missense ACACA 1 83252 1.20117E-5 41626 0 8.23655E-6
17-35632865-T-A p.Thr179Ser missense ACACA 1 83256 1.20111E-5 41628 0 NA
17-35632881-T-C p.Gln173Gln synonymous ACACA 1 83260 1.20106E-5 41630 0 8.23642E-6
17-35632899-T-G p.Ala167Ala synonymous ACACA 1 83266 1.20097E-5 41633 0 NA
17-35632948-A-G c.458-6T>C splice_region ACACA 5 83140 6.01395E-5 41570 0 1.59174E-5
17-35633918-C-T c.457+8G>A splice_region ACACA 1 83186 1.20213E-5 41593 0 6.37592E-5
17-35633921-C-T c.457+5G>A splice_region ACACA 3 83220 3.6049E-5 41610 0 3.97772E-5
17-35633929-T-C p.Met152Val missense ACACA 1 83228 1.20152E-5 41614 0 NA
17-35633942-A-G p.Asn147Asn synonymous ACACA 1 83260 1.20106E-5 41630 0 3.97747E-6
17-35633960-C-T p.Pro141Pro synonymous ACACA 12 83268 1.44113E-4 41634 0 6.3743E-4
17-35633963-T-C p.Leu140Leu synonymous ACACA 1 83264 1.201E-5 41632 0 1.64775E-5
17-35633978-A-T p.Ser135Ser synonymous ACACA 3 83246 3.60378E-5 41623 0 1.64823E-5
17-35634790-T-C p.Gln125Arg missense+splice_region ACACA 1 83120 1.20308E-5 41560 0 NA
17-35634799-A-T p.Ile122Asn missense ACACA 1 83128 1.20296E-5 41564 0 NA
17-35634849-G-A p.Asn105Asn synonymous ACACA 1 83172 1.20233E-5 41586 0 NA
17-35634870-C-T p.Val98Val synonymous ACACA 2 83146 2.40541E-5 41573 0 5.9692E-5
17-35634901-G-GA c.266-4_266-3insT splice_region ACACA 1 83030 1.20438E-5 41515 0 NA
17-35634906-T-C c.266-8A>G splice_region ACACA 1 82972 1.20523E-5 41486 0 NA
17-35640175-G-A p.Ala86Ala synonymous ACACA 2 83200 2.40385E-5 41600 0 8.25151E-6
17-35640208-G-A p.Phe75Phe synonymous ACACA 2 83252 2.40234E-5 41626 0 4.77395E-5
17-35640216-T-C p.Ile73Val missense ACACA 1 83274 1.20085E-5 41637 0 NA
17-35640217-T-C p.Ala72Ala synonymous ACACA 1 83272 1.20088E-5 41636 0 3.97829E-6
17-35640231-G-T p.Arg68Arg synonymous ACACA 384 83284 0.00461073 41642 2 0.00423631
17-35640263-C-T p.Arg57Gln missense ACACA 1 83262 1.20103E-5 41631 0 3.18451E-5
17-35640288-C-T p.Gly49Ser missense ACACA 1 83242 1.20132E-5 41621 0 NA
17-35640289-A-G p.Asn48Asn synonymous ACACA 1 83240 1.20135E-5 41620 0 NA
17-35640309-G-A c.127-3C>T splice_region ACACA 30 83174 3.6069E-4 41587 0 5.4116E-4
17-35640311-G-A c.127-5C>T splice_region ACACA 4 83174 4.8092E-5 41587 0 8.26843E-6
17-35641745-A-C p.Ile40Met missense ACACA 1 83156 1.20256E-5 41578 0 1.64829E-5
17-35641756-T-C p.Asn37Asp missense ACACA 1 83180 1.20221E-5 41590 0 NA
17-35641807-G-A p.Arg20* stop_gained ACACA 1 83238 1.20137E-5 41619 0 1.64764E-5
17-35641824-T-C p.Lys14Arg missense ACACA 1 83242 1.20132E-5 41621 0 NA
17-35641836-C-T p.Gly10Asp missense ACACA 1 83186 1.20213E-5 41593 0 8.2394E-6
17-35641837-C-T p.Gly10Ser missense ACACA 1 83186 1.20213E-5 41593 0 8.23954E-6
17-35641852-G-T p.His5Asn missense ACACA 1 83128 1.20296E-5 41564 0 NA
17-35641865-G-A p.Ser115Ser synonymous ACACA 1 83088 1.20354E-5 41544 0 NA
17-35646322-T-C c.-10A>G splice_region ACACA 6 79452 7.55173E-5 39726 0 NA
17-35646350-A-C c.-38T>G 5_prime_UTR_premature_start_codon_gain ACACA 1 79658 1.25537E-5 39829 0 NA
17-35646416-C-T c.-104G>A 5_prime_UTR_premature_start_codon_gain ACACA 6 79738 7.52464E-5 39869 0 0.00125
17-35646417-G-A c.-105C>T 5_prime_UTR_premature_start_codon_gain ACACA 1 79730 1.25423E-5 39865 0 3.88383E-5
17-35656198-CACTT-C c.-119+3_-119+6delAAGT splice_region ACACA 2 82532 2.4233E-5 41266 0 NA
17-35656213-C-T p.Met15Ile missense ACACA 1 82712 1.20901E-5 41356 0 NA
17-35656215-T-C p.Met15Val missense ACACA 1 82722 1.20887E-5 41361 0 NA
17-35656225-C-T p.Met11Ile missense ACACA 3 82774 3.62433E-5 41387 0 6.37252E-5
17-35656254-C-G p.Glu2Gln missense ACACA 1 82666 1.20969E-5 41333 0 NA
17-35656299-G-A c.-213C>T 5_prime_UTR_premature_start_codon_gain ACACA 1 81788 1.22267E-5 40894 0 3.3325E-5
17-35656321-G-A c.-235C>T 5_prime_UTR_premature_start_codon_gain ACACA 2 81094 2.46627E-5 40547 0 NA
17-35656416-C-A c.-330G>T 5_prime_UTR_premature_start_codon_gain ACACA 2 67820 2.94898E-5 33910 0 NA
17-35656520-C-A c.-434G>T 5_prime_UTR_premature_start_codon_gain ACACA 4 39046 1.02443E-4 19523 0 NA
17-35656546-G-C c.-460C>G 5_prime_UTR_premature_start_codon_gain ACACA 22 34402 6.39498E-4 17201 0 0.00156081
17-35656556-G-A c.-470C>T 5_prime_UTR_premature_start_codon_gain ACACA 18 32260 5.57967E-4 16130 0 9.87513E-4
17-35656559-G-C c.-473C>G 5_prime_UTR_premature_start_codon_gain ACACA 1 32052 3.11993E-5 16026 0 NA
17-35685905-C-A p.Gly83Val missense ACACA 1 1028 9.72763E-4 514 0 0.00117834
17-35687117-T-C p.Ile112Val missense ACACA 1 83278 1.2008E-5 41639 0 2.47109E-5
17-35687122-A-C p.Leu110Trp missense ACACA 1 83286 1.20068E-5 41643 0 NA
17-35687127-C-G p.Leu108Phe missense ACACA 2 83286 2.40136E-5 41643 0 3.97817E-5
17-35687132-C-T p.Gly107Ser missense ACACA 1 83282 1.20074E-5 41641 0 NA
17-35687137-T-A p.Gln105Leu missense ACACA 84 83290 0.00100852 41645 0 0.00152847
17-35687153-C-T p.Gly100Arg missense ACACA 2 83300 2.40096E-5 41650 0 3.977E-6
17-35687160-A-G p.Ser97Ser synonymous ACACA 1 83306 1.20039E-5 41653 0 NA
17-35687165-G-A p.Leu96Phe missense ACACA 1 83300 1.20048E-5 41650 0 3.97706E-6
17-35687203-T-G p.Glu83Ala missense ACACA 3 83344 3.59954E-5 41672 0 NA
17-35687207-T-TCTC p.Glu81dup conservative_inframe_insertion ACACA 1 83334 1.19999E-5 41667 0 3.18512E-5
17-35687229-C-T p.Val74Val synonymous ACACA 1 83332 1.20002E-5 41666 0 3.1841E-5
17-35687234-G-A c.-240C>T 5_prime_UTR_premature_start_codon_gain ACACA 1 83332 1.20002E-5 41666 0 8.23655E-6
17-35687238-G-C p.Ser71Arg missense ACACA 18 83336 2.15993E-4 41668 0 1.07368E-4
17-35687238-G-A p.Ser71Ser synonymous ACACA 1 83336 1.19996E-5 41668 0 NA
17-35687240-T-C p.Ser71Gly missense ACACA 1 83342 1.19988E-5 41671 0 8.23655E-6
17-35687249-C-T p.Asp68Asn missense ACACA 1 83330 1.20005E-5 41665 0 NA
17-35687278-A-G p.Ile58Thr missense ACACA 1 83340 1.1999E-5 41670 0 8.23642E-6
17-35687286-T-A p.Arg55Arg synonymous ACACA 1 83358 1.19964E-5 41679 0 NA
17-35687298-G-T p.Asn51Lys missense ACACA 2 83346 2.39964E-5 41673 0 1.64731E-5
17-35687331-T-C p.Glu40Glu synonymous ACACA 2 83340 2.39981E-5 41670 0 2.38597E-5
17-35687333-C-T p.Glu40Lys missense ACACA 1 83336 1.19996E-5 41668 0 NA
17-35687334-A-AATGG p.Glu40fs frameshift ACACA 1 83334 1.19999E-5 41667 0 NA
17-35687335-T-A p.Asp39Val missense ACACA 1 83334 1.19999E-5 41667 0 NA
17-35687370-G-A c.86-5C>T splice_region ACACA 5 83270 6.00456E-5 41635 0 3.1841E-5
17-35696768-T-C p.Ile27Met missense ACACA 1 78650 1.27146E-5 39325 0 1.68268E-5
17-35696786-A-G p.Thr21Thr synonymous ACACA 1 78504 1.27382E-5 39252 0 NA
17-35696791-A-C p.Ser20Ala missense ACACA 1 78356 1.27623E-5 39178 0 8.3647E-6
17-35696794-T-G p.Ile19Leu missense ACACA 1 78292 1.27727E-5 39146 0 NA
17-35696802-C-T p.Trp16* stop_gained ACACA 2 78112 2.56043E-5 39056 0 4.94545E-6
17-35696804-G-A c.-412C>T 5_prime_UTR_premature_start_codon_gain ACACA 51326 73704 0.69638 36852 19311 0.823871
17-35696815-AG-A c.39-6delC splice_region ACACA 1 77662 1.28763E-5 38831 0 6.28536E-5
17-35702299-G-A c.-163C>T 5_prime_UTR_premature_start_codon_gain ACACA 5 68 0.0735294 34 0 0.123479
17-35716052-C-G c.-529G>C 5_prime_UTR_premature_start_codon_gain ACACA 1 24494 4.08263E-5 12247 0 3.51438E-4
17-35722420-G-A c.-240C>T 5_prime_UTR_premature_start_codon_gain ACACA 1 27176 3.67972E-5 13588 0 6.36943E-5
17-35722428-G-A c.-248C>T 5_prime_UTR_premature_start_codon_gain ACACA 2 27184 7.35727E-5 13592 0 3.18512E-5
17-35722454-G-A c.-274C>T 5_prime_UTR_premature_start_codon_gain ACACA 1 27196 3.67701E-5 13598 0 NA
17-35722495-A-G c.-315T>C 5_prime_UTR_premature_start_codon_gain ACACA 1 27196 3.67701E-5 13598 0 NA
17-35722541-A-C c.-361T>G 5_prime_UTR_premature_start_codon_gain ACACA 1 27200 3.67647E-5 13600 0 NA
17-35722577-T-C c.-397A>G 5_prime_UTR_premature_start_codon_gain ACACA 1 27196 3.67701E-5 13598 0 NA
17-35766352-C-G p.Arg13Thr missense+splice_region ACACA 1 82928 1.20587E-5 41464 0 NA
17-35766352-CT-AG p.Arg13Leu missense+splice_region ACACA 1 82928 1.20587E-5 41464 0 NA
17-35766360-C-T p.Leu10Leu synonymous ACACA 1 82952 1.20552E-5 41476 0 NA
17-35766366-T-A p.Ser8Ser synonymous ACACA 1 82962 1.20537E-5 41481 0 2.48562E-5
17-35766371-TCA-T p.Leu6fs frameshift ACACA 2 82946 2.41121E-5 41473 0 NA
17-35766374-G-A c.-441C>T 5_prime_UTR_premature_start_codon_gain ACACA 14 82944 1.68789E-4 41472 0 4.77677E-4
17-35766374-G-C p.Leu6Val missense ACACA 1 82944 1.20563E-5 41472 0 4.00731E-6
17-35766375-A-G p.Thr5Thr synonymous ACACA 2 82954 2.41097E-5 41477 0 NA
17-35766409-A-C c.-20T>G 5_prime_UTR_premature_start_codon_gain ACACA 1 82818 1.20747E-5 41409 0 NA
17-35766428-C-A c.-39G>T 5_prime_UTR_premature_start_codon_gain ACACA 1 82698 1.20922E-5 41349 0 8.01494E-6
17-35766570-G-A c.-181C>T 5_prime_UTR_premature_start_codon_gain ACACA 2 71456 2.79893E-5 35728 0 NA
17-35766624-G-A c.-235C>T 5_prime_UTR_premature_start_codon_gain ACACA 1 64116 1.55967E-5 32058 0 NA
17-35766661-G-T c.-272C>A 5_prime_UTR_premature_start_codon_gain ACACA 6 55754 1.07616E-4 27877 0 1.27608E-4
17-35766690-C-A c.-301G>T 5_prime_UTR_premature_start_codon_gain ACACA 2 47448 4.21514E-5 23724 0 9.57671E-5
17-35766712-C-G c.-323G>C 5_prime_UTR_premature_start_codon_gain ACACA 2 40850 4.89596E-5 20425 0 3.18979E-5
17-35766750-C-T c.-361G>A 5_prime_UTR_premature_start_codon_gain ACACA 1 29576 3.38112E-5 14788 0 NA
17-35766751-G-A c.-362C>T 5_prime_UTR_premature_start_codon_gain ACACA 127 29384 0.00432208 14692 0 0.00741072
17-35766836-G-A c.-447C>T 5_prime_UTR_premature_start_codon_gain ACACA 3 3892 7.70812E-4 1946 0 0.00423154