Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-47310218-C-T p.Ter398Ter stop_retained ACAA2 2 83024 2.40894E-5 41512 0 7.58214E-5
18-47310224-G-A p.Thr396Ile missense ACAA2 128 83086 0.00154057 41543 0 0.00159108
18-47310237-T-C p.Ile392Val missense ACAA2 1 83186 1.20213E-5 41593 0 NA
18-47310242-G-A p.Ala390Val missense ACAA2 1 83202 1.20189E-5 41601 0 9.55657E-5
18-47310248-C-T p.Gly388Asp missense ACAA2 1 83226 1.20155E-5 41613 0 1.66118E-5
18-47310263-A-G p.Ile383Thr missense ACAA2 1 83248 1.20123E-5 41624 0 3.97902E-6
18-47310279-C-G p.Val378Leu missense ACAA2 28 83248 3.36344E-4 41624 0 0.00100705
18-47310279-C-T p.Val378Ile missense ACAA2 4 83250 4.8048E-5 41625 0 8.29669E-5
18-47310280-G-A p.Ala377Ala synonymous ACAA2 15 83246 1.80189E-4 41623 0 1.03459E-4
18-47310282-C-A p.Ala377Ser missense ACAA2 1 83254 1.20114E-5 41627 0 NA
18-47310283-A-G p.Tyr376Tyr synonymous ACAA2 1 83254 1.20114E-5 41627 0 6.36943E-5
18-47310284-T-C p.Tyr376Cys missense ACAA2 3 83248 3.60369E-5 41624 0 4.98091E-5
18-47310285-A-G p.Tyr376His missense ACAA2 3 83244 3.60386E-5 41622 0 3.97899E-6
18-47310290-C-T p.Gly374Glu missense ACAA2 1 83228 1.20152E-5 41614 0 NA
18-47310296-C-T p.Arg372Gln missense ACAA2 1 83228 1.20152E-5 41614 0 1.00043E-4
18-47310299-C-A p.Arg371Leu missense+splice_region ACAA2 4 83214 4.80688E-5 41607 0 NA
18-47310303-T-TTAATTCGTGAACCAGGTGTGCAGTAATTCTTGATCCAGATCCTCCCAGTG c.1110-3_1110-2insCACTGGGAGGATCTGGATCAAGAATTACTGCACACCTGGTTCACGAATTA splice_region ACAA2 2 83204 2.40373E-5 41602 1 NA
18-47311568-TTAATTCGTGAACCAGGTGTGCAG-T p.Thr362fs frameshift ACAA2 2 82500 2.42424E-5 41250 0 3.1841E-5
18-47311574-C-T p.Glu368Lys missense ACAA2 12 82616 1.4525E-4 41308 0 9.55353E-5
18-47311577-GA-G p.His367fs frameshift ACAA2 1 82670 1.20963E-5 41335 0 1.22302E-5
18-47311585-T-G p.His364Pro missense ACAA2 1 82754 1.2084E-5 41377 0 8.25491E-6
18-47311616-G-T p.Leu354Met missense ACAA2 33 82834 3.98387E-4 41417 0 3.18431E-4
18-47311617-T-G p.Pro353Pro synonymous ACAA2 3 82838 3.62153E-5 41419 0 3.1837E-5
18-47311631-C-A p.Ala349Ser missense ACAA2 2 82822 2.41482E-5 41411 0 8.25723E-6
18-47311641-T-C p.Gly345Gly synonymous ACAA2 1 82800 1.20773E-5 41400 0 NA
18-47311648-ACATTGGTTTTACTTATGTCAAGATC-A p.Asp335fs frameshift ACAA2 1 82836 1.2072E-5 41418 0 3.98359E-6
18-47311668-A-G p.Leu336Leu synonymous ACAA2 1 82946 1.2056E-5 41473 0 NA
18-47311672-T-C p.Asp335Gly missense ACAA2 1 82948 1.20557E-5 41474 0 3.18471E-5
18-47311710-AG-A p.Ala322fs frameshift ACAA2 1 83076 1.20372E-5 41538 0 NA
18-47311728-A-G c.955-7T>C splice_region ACAA2 2 83038 2.40854E-5 41519 0 5.48817E-5
18-47313653-A-C c.954+8T>G splice_region ACAA2 1 78040 1.28139E-5 39020 0 5.22357E-5
18-47313653-AC-A c.954+7delG splice_region ACAA2 1 78040 1.28139E-5 39020 0 NA
18-47313654-C-A c.954+7G>T splice_region ACAA2 11 75520 1.45657E-4 37760 0 0.0349654
18-47313654-CACTT-C c.954+3_954+6delAAGT splice_region ACAA2 1 77462 1.29096E-5 38731 0 6.11247E-5
18-47313655-ACTTACCTCTACC-A p.Val317fs frameshift ACAA2 4 76444 5.23259E-5 38222 0 0.0121073
18-47313655-ACTT-A c.954+3_954+5delAAG splice_region ACAA2 1 77618 1.28836E-5 38809 0 5.37018E-4
18-47313655-ACTTACCTCT-A p.Glu318fs frameshift ACAA2 1 77802 1.28531E-5 38901 0 1.22049E-5
18-47313659-ACCTCTACC-A p.Val317fs frameshift ACAA2 1 77646 1.2879E-5 38823 0 2.37671E-4
18-47313663-C-T p.Glu318Lys missense+splice_region ACAA2 4 77854 5.13782E-5 38927 0 2.21607E-5
18-47313666-C-T p.Val317Ile missense ACAA2 1 77822 1.28498E-5 38911 0 NA
18-47313667-C-T p.Leu316Leu synonymous ACAA2 1 77908 1.28357E-5 38954 0 NA
18-47313669-A-C p.Leu316Val missense ACAA2 1 77954 1.28281E-5 38977 0 NA
18-47313679-C-G p.Lys312Asn missense ACAA2 4 78014 5.12728E-5 39007 0 9.90295E-5
18-47313683-A-G p.Leu311Pro missense ACAA2 2 78094 2.56102E-5 39047 0 NA
18-47313694-T-C p.Ala307Ala synonymous ACAA2 1 78036 1.28146E-5 39018 0 NA
18-47313700-C-CTTCA p.Lys305fs frameshift ACAA2 1 77888 1.28389E-5 38944 0 NA
18-47313708-C-A p.Ala303Ser missense ACAA2 1 77854 1.28446E-5 38927 0 NA
18-47313717-TAGC-T p.Ala299del conservative_inframe_deletion ACAA2 1 77800 1.28535E-5 38900 0 NA
18-47313720-C-G p.Ala299Pro missense ACAA2 1 77706 1.2869E-5 38853 0 NA
18-47313727-A-G p.Pro296Pro synonymous ACAA2 3 77982 3.84704E-5 38991 0 9.85746E-6
18-47313738-A-G c.884-7T>C splice_region ACAA2 1 76452 1.30801E-5 38226 0 1.70882E-4
18-47317832-A-T c.883+8T>A splice_region ACAA2 1 80982 1.23484E-5 40491 0 2.4839E-5
18-47317833-A-G c.883+7T>C splice_region ACAA2 1 81038 1.23399E-5 40519 0 9.55597E-5
18-47317848-A-G p.Met292Thr missense ACAA2 1 81730 1.22354E-5 40865 0 1.64997E-5
18-47317853-A-G p.Ser290Ser synonymous ACAA2 1 81926 1.22061E-5 40963 0 1.64948E-5
18-47317857-G-C p.Pro289Arg missense ACAA2 1 82068 1.2185E-5 41034 0 3.98162E-6
18-47317867-C-T p.Gly286Arg missense ACAA2 2 82378 2.42783E-5 41189 0 1.19397E-5
18-47317877-G-A p.Tyr282Tyr synonymous ACAA2 44 82662 5.32288E-4 41331 0 0.00121035
18-47317883-C-T p.Val280Val synonymous ACAA2 2 82862 2.41365E-5 41431 0 NA
18-47317889-T-C p.Arg278Arg synonymous ACAA2 2 82944 2.41127E-5 41472 0 NA
18-47317894-C-G p.Ala277Pro missense ACAA2 2 83012 2.40929E-5 41506 0 8.23913E-6
18-47317902-G-A p.Thr274Ile missense ACAA2 4 83142 4.81105E-5 41571 0 4.94356E-5
18-47317911-T-C p.His271Arg missense ACAA2 3 83190 3.6062E-5 41595 0 7.9564E-6
18-47317912-G-A p.His271Tyr missense ACAA2 55 83192 6.61121E-4 41596 0 9.96935E-4
18-47317931-A-ACTAGC p.Ser264fs frameshift ACAA2 2 83208 2.40361E-5 41604 0 4.1197E-5
18-47317947-G-T p.Ala259Asp missense ACAA2 2 83150 2.40529E-5 41575 0 3.18471E-5
18-47317962-G-A p.Ala254Val missense ACAA2 1 83084 1.2036E-5 41542 0 NA
18-47317966-C-T p.Val253Ile missense ACAA2 2 83058 2.40796E-5 41529 0 2.47909E-5
18-47317968-C-A p.Gly252Val missense+splice_region ACAA2 1 83038 1.20427E-5 41519 0 8.26802E-6
18-47317969-C-G p.Gly252Arg missense+splice_region ACAA2 1 83034 1.20433E-5 41517 0 8.27308E-6
18-47317970-C-CGA c.754-2_754-1insTC splice_acceptor ACAA2 3 83020 3.61359E-5 41510 1 NA
18-47317970-C-CGATGCATTCCCTGCAGTAACAGTTCCA c.754-2_754-1insTGGAACTGTTACTGCAGGGAATGCATC splice_acceptor ACAA2 2 83020 2.40906E-5 41510 1 NA
18-47318514-A-G c.753+8T>C splice_region ACAA2 1 82966 1.20531E-5 41483 0 NA
18-47318515-T-C c.753+7A>G splice_region ACAA2 2 82984 2.4101E-5 41492 0 NA
18-47318519-A-C c.753+3T>G splice_region ACAA2 1 83040 1.20424E-5 41520 0 3.18451E-5
18-47318521-C-T c.753+1G>A splice_donor ACAA2 1 83056 1.20401E-5 41528 0 8.34265E-6
18-47318522-C-T p.Ser251Ser splice_region+synonymous ACAA2 15 83068 1.80575E-4 41534 0 9.56023E-5
18-47318522-C-G p.Ser251Ser splice_region+synonymous ACAA2 1 83070 1.2038E-5 41535 0 1.66789E-5
18-47318523-G-A p.Ser251Leu missense+splice_region ACAA2 1 83094 1.20346E-5 41547 0 2.79207E-5
18-47318542-C-T p.Val245Ile missense ACAA2 2 83288 2.40131E-5 41644 0 3.98086E-6
18-47318543-A-C p.Thr244Thr synonymous ACAA2 1 83292 1.2006E-5 41646 0 NA
18-47318549-A-G p.Asp242Asp synonymous ACAA2 13 83312 1.5604E-4 41656 0 4.95753E-5
18-47318556-T-TTGAATACTGGAGGAAGTTTCTGTAACTGTTCCAGGG p.Thr228_Phe239dup conservative_inframe_insertion ACAA2 3 83330 3.60014E-5 41665 0 1.32118E-4
18-47318563-C-T p.Val238Ile missense ACAA2 1 83336 1.19996E-5 41668 0 NA
18-47318580-A-C p.Leu232* stop_gained ACAA2 1 83340 1.1999E-5 41670 0 NA
18-47318588-C-T p.Leu229Leu synonymous ACAA2 8 83346 9.59854E-5 41673 0 3.82166E-4
18-47318598-T-TG p.Gln226fs frameshift ACAA2 1 83346 1.19982E-5 41673 0 8.25028E-6
18-47318604-C-T p.Arg224Gln missense ACAA2 1 83348 1.19979E-5 41674 0 3.97788E-6
18-47318605-G-A p.Arg224Trp missense ACAA2 5 83350 5.9988E-5 41675 0 5.77377E-5
18-47318615-G-GTCTACCTGCATTGTCTGT p.Val219_Asp220insGluGlnThrMetGlnVal disruptive_inframe_insertion ACAA2 11 83354 1.31967E-4 41677 0 1.19328E-5
18-47318619-A-G p.Val219Ala missense ACAA2 2 83344 2.39969E-5 41672 0 3.18634E-5
18-47318626-T-C p.Met217Val missense ACAA2 2217 83310 0.0266115 41655 49 0.0475
18-47318626-T-TTGTC p.Met217fs frameshift ACAA2 1 83346 1.19982E-5 41673 0 NA
18-47318651-CA-C p.Val208fs frameshift ACAA2 1 83340 1.1999E-5 41670 0 NA
18-47318659-T-C p.Ile206Val missense ACAA2 23 83344 2.75965E-4 41672 0 1.27389E-4
18-47318659-T-A p.Ile206Phe missense ACAA2 2 83344 2.39969E-5 41672 0 1.59131E-5
18-47318672-A-G p.Asp201Asp synonymous ACAA2 1 83324 1.20013E-5 41662 0 3.18492E-5
18-47318680-A-G p.Phe199Leu missense ACAA2 3 83306 3.60118E-5 41653 0 3.18492E-5
18-47318683-A-T p.Tyr198Asn missense ACAA2 112 83290 0.0013447 41645 3 0.01375
18-47318692-C-CATT p.Asn194dup conservative_inframe_insertion ACAA2 1 83258 1.20109E-5 41629 0 NA
18-47318700-G-GA c.578-4_578-3insT splice_region ACAA2 1 83190 1.20207E-5 41595 0 NA
18-47318702-A-G c.578-5T>C splice_region ACAA2 19 83176 2.28431E-4 41588 0 8.27709E-4
18-47320647-C-T c.577+3G>A splice_region ACAA2 3 81648 3.67431E-5 40824 0 9.5584E-5
18-47320673-T-A p.Gln185Leu missense ACAA2 1 82118 1.21776E-5 41059 0 NA
18-47320680-C-T p.Ala183Thr missense ACAA2 4 82216 4.86523E-5 41108 0 8.28322E-6
18-47320681-A-G p.Tyr182Tyr synonymous ACAA2 1 82234 1.21604E-5 41117 0 5.04032E-4
18-47320685-T-C p.Lys181Arg missense ACAA2 2 82274 2.4309E-5 41137 0 9.5511E-5
18-47320703-CTTAT-C p.Ile174fs frameshift ACAA2 1 82512 1.21194E-5 41256 0 NA
18-47320711-G-C p.His172Gln missense ACAA2 1 82632 1.21018E-5 41316 0 8.27198E-6
18-47320721-G-A p.Ala169Val missense ACAA2 1 82794 1.20782E-5 41397 0 NA
18-47320746-T-C p.Met161Val missense ACAA2 3 82990 3.61489E-5 41495 0 4.00006E-6
18-47320758-C-A p.Val157Phe missense ACAA2 1 83008 1.2047E-5 41504 0 NA
18-47320759-A-G p.His156His synonymous ACAA2 1 82992 1.20494E-5 41496 0 NA
18-47320761-G-A p.His156Tyr missense ACAA2 1 82998 1.20485E-5 41499 0 5.03525E-4
18-47320779-C-A p.Val150Leu missense ACAA2 1 82692 1.20931E-5 41346 0 3.18613E-5
18-47320779-C-T p.Val150Ile missense ACAA2 1 82692 1.20931E-5 41346 0 2.18341E-5
18-47320782-A-C p.Trp149Gly missense ACAA2 2 82718 2.41785E-5 41359 0 2.86606E-4
18-47320787-G-A p.Ser147Phe missense ACAA2 1 82704 1.20913E-5 41352 0 NA
18-47320795-C-T p.Leu144Leu splice_region+synonymous ACAA2 2 82590 2.4216E-5 41295 0 5.03525E-4
18-47320797-G-A p.Leu144Leu splice_region+synonymous ACAA2 1 82526 1.21174E-5 41263 0 NA
18-47320800-A-G c.430-3T>C splice_region ACAA2 20 82462 2.42536E-4 41231 0 1.87439E-4
18-47322139-A-G p.Ile142Thr missense ACAA2 1 82060 1.21862E-5 41030 0 2.51231E-5
18-47322139-ATATCTGATCCAAGCTTGG-A p.Thr136_Asp141del disruptive_inframe_deletion ACAA2 1 82060 1.21862E-5 41030 0 NA
18-47322153-C-G p.Lys137Asn missense ACAA2 1 82382 1.21386E-5 41191 0 NA
18-47322160-C-T p.Gly135Glu missense ACAA2 2 82496 2.42436E-5 41248 0 8.51064E-5
18-47322166-C-T p.Arg133His missense ACAA2 4 82580 4.84379E-5 41290 0 3.18573E-5
18-47322167-G-C p.Arg133Gly missense ACAA2 3 82578 3.63293E-5 41289 0 1.21236E-5
18-47322178-A-T p.Val129Asp missense ACAA2 7 82910 8.44289E-5 41455 0 2.00655E-5
18-47322179-C-T p.Val129Ile missense ACAA2 3 82910 3.61838E-5 41455 0 9.55962E-5
18-47322181-CAGT-C p.Tyr127del disruptive_inframe_deletion ACAA2 1 82974 1.2052E-5 41487 0 NA
18-47322183-G-C p.Tyr127* stop_gained ACAA2 1 83040 1.20424E-5 41520 0 NA
18-47322188-G-A p.Pro126Ser missense ACAA2 1 83080 1.20366E-5 41540 0 1.64954E-5
18-47322192-T-C p.Gln124Gln synonymous ACAA2 3 83122 3.60915E-5 41561 0 6.36983E-5
18-47322195-G-C p.Ser123Arg missense ACAA2 1 83134 1.20288E-5 41567 0 NA
18-47322206-C-T p.Glu120Lys missense ACAA2 1 83132 1.20291E-5 41566 0 2.47443E-5
18-47322207-G-C p.Thr119Thr synonymous ACAA2 46 83114 5.53457E-4 41557 0 4.14303E-4
18-47322215-C-T p.Gly117Arg missense ACAA2 1 83124 1.20302E-5 41562 0 4.00449E-6
18-47322218-A-T p.Cys116Ser missense ACAA2 2 83106 2.40657E-5 41553 0 6.36862E-5
18-47322218-A-G p.Cys116Arg missense ACAA2 1 83104 1.20331E-5 41552 0 8.25082E-6
18-47322228-T-C p.Glu112Glu synonymous ACAA2 311 83008 0.00374663 41504 1 0.00850589
18-47322236-CTTT-C p.Lys109del conservative_inframe_deletion ACAA2 2 82930 2.41167E-5 41465 0 NA
18-47322238-T-C p.Lys109Arg missense ACAA2 8 82880 9.65251E-5 41440 0 6.25E-4
18-47322244-C-A p.Cys107Phe missense ACAA2 7 82836 8.45043E-5 41418 0 3.18552E-5
18-47322253-T-TGACATCC c.313-3_313-2insGGATGTC splice_region ACAA2 4 82592 4.84308E-5 41296 2 NA
18-47322253-T-TGACATCCATTCACAATGGACTG c.313-3_313-2insCAGTCCATTGTGAATGGATGTC splice_region ACAA2 4 82592 4.84308E-5 41296 2 NA
18-47322256-T-C c.313-5A>G splice_region ACAA2 1 82508 1.212E-5 41254 0 1.24605E-4
18-47323830-C-G c.312+6G>C splice_region ACAA2 1 82014 1.2193E-5 41007 0 2.06048E-5
18-47323835-C-G c.312+1G>C splice_donor ACAA2 1 82144 1.21737E-5 41072 0 4.10095E-6
18-47323837-T-C p.Gln104Arg missense+splice_region ACAA2 1 82174 1.21693E-5 41087 0 1.65582E-5
18-47323864-C-G p.Gly95Ala missense ACAA2 1 82532 1.21165E-5 41266 0 NA
18-47323869-A-G p.Gly93Gly synonymous ACAA2 1 82594 1.21074E-5 41297 0 2.47508E-5
18-47323878-C-T p.Arg90Arg synonymous ACAA2 2 82730 2.4175E-5 41365 0 2.78722E-5
18-47323887-C-T p.Thr87Thr synonymous ACAA2 9 82850 1.0863E-4 41425 0 5.04541E-4
18-47323887-C-G p.Thr87Thr synonymous ACAA2 2 82850 2.414E-5 41425 0 8.24742E-6
18-47323888-G-T p.Thr87Lys missense ACAA2 8 82848 9.65624E-5 41424 0 9.55901E-5
18-47323888-G-A p.Thr87Met missense ACAA2 8 82848 9.65624E-5 41424 0 9.89642E-5
18-47323891-A-G p.Leu86Pro missense ACAA2 1 82900 1.20627E-5 41450 0 NA
18-47323921-C-T p.Arg76His missense ACAA2 10 83178 1.20224E-4 41589 0 7.43359E-5
18-47323922-G-A p.Arg76Cys missense ACAA2 4 83168 4.80954E-5 41584 0 4.12998E-5
18-47323935-C-T p.Arg71Arg synonymous ACAA2 26 83218 3.12432E-4 41609 1 0.00172062
18-47323937-T-C p.Arg71Gly missense ACAA2 2 83230 2.40298E-5 41615 0 3.99888E-6
18-47323944-A-G p.Tyr68Tyr synonymous ACAA2 1 83222 1.20161E-5 41611 0 NA
18-47323946-A-G p.Tyr68His missense ACAA2 1 83230 1.20149E-5 41615 0 NA
18-47323956-TGAA-T p.Ser64del disruptive_inframe_deletion ACAA2 19 83212 2.28332E-4 41606 0 5.03525E-4
18-47323966-T-C c.184-2A>G splice_acceptor ACAA2 1 83188 1.2021E-5 41594 0 4.40509E-6
18-47323967-AG-A c.184-4delC splice_region ACAA2 2 83180 2.40442E-5 41590 0 NA
18-47323971-G-A c.184-7C>T splice_region ACAA2 1 83164 1.20244E-5 41582 0 NA
18-47329050-T-TACTA c.183+6_183+7insTAGT splice_region ACAA2 1 83334 1.19999E-5 41667 0 NA
18-47329061-A-G p.Leu60Pro missense ACAA2 1 83366 1.19953E-5 41683 0 NA
18-47329065-C-T p.Val59Ile missense ACAA2 1 83370 1.19947E-5 41685 0 7.96495E-6
18-47329070-C-A p.Gly57Val missense ACAA2 13 83368 1.55935E-4 41684 0 1.91131E-4
18-47329071-C-G p.Gly57Arg missense ACAA2 19 83368 2.27905E-4 41684 0 1.59307E-4
18-47329073-A-G p.Met1? start_lost ACAA2 2 83376 2.39877E-5 41688 0 8.27568E-6
18-47329084-G-T p.Asp52Glu missense ACAA2 1 83370 1.19947E-5 41685 0 NA
18-47329084-G-A p.Asp52Asp synonymous ACAA2 1 83370 1.19947E-5 41685 0 8.25491E-6
18-47329098-G-T p.Pro48Thr missense ACAA2 11 83368 1.31945E-4 41684 0 3.18512E-5
18-47329115-G-C p.Ser42Cys missense ACAA2 2 83384 2.39854E-5 41692 0 NA
18-47329118-A-G p.Leu41Ser missense ACAA2 1 83386 1.19924E-5 41693 0 7.95273E-6
18-47329146-A-C p.Leu32Val missense ACAA2 1 83386 1.19924E-5 41693 0 NA
18-47329157-G-A p.Thr28Ile missense ACAA2 5 83384 5.99635E-5 41692 0 6.37186E-5
18-47329174-GC-G p.Gly22fs frameshift ACAA2 1 83378 1.19936E-5 41689 0 NA
18-47329178-C-CCAAAGGG p.Gly21fs frameshift ACAA2 1 83386 1.19924E-5 41693 0 NA
18-47329179-C-T p.Gly21Arg missense ACAA2 1 83384 1.19927E-5 41692 0 6.37186E-5
18-47329180-G-C p.Tyr20* stop_gained ACAA2 28 83382 3.35804E-4 41691 0 2.54858E-4
18-47329180-G-T p.Tyr20* stop_gained ACAA2 2 83382 2.3986E-5 41691 0 3.97772E-6
18-47329189-A-G p.Phe17Phe synonymous ACAA2 2 83384 2.39854E-5 41692 0 8.24321E-6
18-47329195-C-T p.Thr15Thr synonymous ACAA2 2 83370 2.39894E-5 41685 0 3.18552E-5
18-47329196-G-A p.Thr15Met missense ACAA2 12 83366 1.43944E-4 41683 0 1.23683E-4
18-47329199-C-T p.Arg14Gln missense ACAA2 3 83366 3.59859E-5 41683 0 4.94772E-5
18-47329215-C-T p.Val9Ile missense ACAA2 1 83326 1.20011E-5 41663 0 3.98057E-6
18-47329223-C-T p.Gly6Asp missense+splice_region ACAA2 45 83308 5.40164E-4 41654 0 0.00117827
18-47329228-T-C c.17-5A>G splice_region ACAA2 6 83278 7.20478E-5 41639 0 2.80713E-4
18-47329229-GCAA-G c.17-9_17-7delTTG splice_region ACAA2 1 83266 1.20097E-5 41633 0 NA
18-47339839-C-T p.Gly6Ser missense+splice_region ACAA2 1 46292 2.1602E-5 23146 0 NA
18-47339841-C-A p.Arg5Leu missense+splice_region ACAA2 4 46638 8.5767E-5 23319 0 4.649E-4
18-47339854-T-A p.Met1? initiator_codon ACAA2 2 49244 4.06141E-5 24622 0 4.77783E-4
18-47339854-T-G p.Met1? initiator_codon ACAA2 1 49244 2.0307E-5 24622 0 NA
18-47339876-G-A c.-22C>T 5_prime_UTR_premature_start_codon_gain ACAA2 4 51992 7.69349E-5 25996 0 NA
18-47340034-T-C c.-180A>G 5_prime_UTR_premature_start_codon_gain ACAA2 1 69150 1.44613E-5 34575 0 NA
18-47340060-G-A c.-206C>T 5_prime_UTR_premature_start_codon_gain ACAA2 1 70774 1.41295E-5 35387 0 3.18796E-5
18-47340139-G-C c.-285C>G 5_prime_UTR_premature_start_codon_gain ACAA2 1 72272 1.38366E-5 36136 0 NA
18-47340159-C-A c.-305G>T 5_prime_UTR_premature_start_codon_gain ACAA2 2 72320 2.76549E-5 36160 0 NA
18-47340182-C-G c.7+5G>C splice_region ACAA2 1 72294 1.38324E-5 36147 0 NA
18-47340186-C-G c.7+1G>C splice_donor ACAA2 1 72274 1.38362E-5 36137 0 NA
18-47340212-G-C c.-358C>G 5_prime_UTR_premature_start_codon_gain ACAA2 1 72158 1.38585E-5 36079 0 NA
18-47340225-C-A c.-371G>T 5_prime_UTR_premature_start_codon_gain ACAA2 5 72084 6.93635E-5 36042 0 2.22767E-4
18-47340242-C-T c.-388G>A 5_prime_UTR_premature_start_codon_gain ACAA2 1 71646 1.39575E-5 35823 0 6.38774E-5