ClinVar Miner

List of variants in gene ACAT1 studied for Deficiency of acetyl-CoA acetyltransferase

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 681
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.435+78A>C rs10890817 0.49701
NM_000019.3(ACAT1):c.*599A>C rs2280332 0.28837
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_000019.4(ACAT1):c.1005+25C>T rs10890819 0.26160
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.26111
NM_000019.4(ACAT1):c.238+134A>C rs7931681 0.23898
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_000019.4(ACAT1):c.-15C>G rs113348145 0.02192
NM_000019.3(ACAT1):c.*555A>G rs111376037 0.01843
NM_000019.4(ACAT1):c.*179T>G rs114728153 0.01290
NM_000019.3(ACAT1):c.*250C>T rs79179095 0.01146
NM_000019.3(ACAT1):c.*258G>A rs79764488 0.01061
NM_000019.3(ACAT1):c.*293A>T rs73559273 0.00975
NM_000019.3(ACAT1):c.*507G>A rs12271846 0.00968
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00941
NM_000019.3(ACAT1):c.*214G>C rs145690535 0.00839
NM_000019.4(ACAT1):c.941-14C>T rs12801620 0.00658
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00390
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_000019.4(ACAT1):c.-28T>A rs36216231 0.00247
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724 0.00219
NM_000019.4(ACAT1):c.238+17C>T rs199918672 0.00182
NM_000019.3(ACAT1):c.*553T>A rs183999318 0.00131
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039 0.00101
NM_000019.3(ACAT1):c.-70T>A rs566741161 0.00088
NM_000019.4(ACAT1):c.1164-15C>T rs185613183 0.00044
NM_000019.3(ACAT1):c.*753C>T rs186239800 0.00036
NM_000019.3(ACAT1):c.*574G>C rs775813923 0.00031
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303 0.00030
NM_000019.4(ACAT1):c.816G>T (p.Gln272His) rs139120939 0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile) rs142869776 0.00019
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=) rs760794308 0.00015
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val) rs369440498 0.00012
NM_000019.4(ACAT1):c.1164-14T>C rs111849528 0.00012
NM_000019.3(ACAT1):c.*397C>T rs568860814 0.00011
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000019.3(ACAT1):c.*344T>C rs776705661 0.00009
NM_000019.4(ACAT1):c.22C>T (p.Leu8=) rs775668624 0.00009
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala) rs577313004 0.00008
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp) rs199952982 0.00008
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545 0.00007
NM_000019.4(ACAT1):c.239-8T>A rs202030208 0.00007
NM_000019.3(ACAT1):c.*384A>C rs916588276 0.00006
NM_000019.4(ACAT1):c.-5C>T rs747790910 0.00006
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788 0.00006
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu) rs764142914 0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=) rs372169445 0.00006
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=) rs200729208 0.00005
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr) rs764674778 0.00005
NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln) rs200498630 0.00005
NM_000019.3(ACAT1):c.*464A>G rs886047602 0.00004
NM_000019.4(ACAT1):c.1006-17C>G rs1409314804 0.00004
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met) rs201500937 0.00004
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037 0.00004
NM_000019.4(ACAT1):c.436-5C>T rs369472868 0.00004
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.546C>T (p.Asp182=) rs373393997 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000019.4(ACAT1):c.636C>T (p.Asp212=) rs759659537 0.00004
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr) rs772087249 0.00004
NM_000019.4(ACAT1):c.730+12G>A rs559179516 0.00004
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435 0.00004
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899 0.00004
NM_000019.4(ACAT1):c.1006-2A>C rs145229472 0.00003
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg) rs149171104 0.00003
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000019.4(ACAT1):c.325T>C (p.Leu109=) rs772625970 0.00003
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr) rs754478568 0.00003
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala) rs752592672 0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804 0.00003
NM_000019.3(ACAT1):c.*365C>T rs145398051 0.00002
NM_000019.3(ACAT1):c.*393A>G rs886047601 0.00002
NM_000019.4(ACAT1):c.105A>G (p.Ser35=) rs1442033328 0.00002
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=) rs1407616925 0.00002
NM_000019.4(ACAT1):c.225C>T (p.Ala75=) rs747201837 0.00002
NM_000019.4(ACAT1):c.288A>G (p.Gln96=) rs969770311 0.00002
NM_000019.4(ACAT1):c.342T>A (p.Pro114=) rs941750006 0.00002
NM_000019.4(ACAT1):c.436-7T>C rs775534544 0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000019.4(ACAT1):c.579+11T>C rs1191067994 0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 0.00002
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) rs545578010 0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala) rs746059964 0.00002
NM_000019.4(ACAT1):c.941-9T>G rs980651269 0.00002
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) rs755806238 0.00002
NM_000019.4(ACAT1):c.990A>G (p.Val330=) rs764361167 0.00002
NM_000019.3(ACAT1):c.*291A>C rs771132416 0.00001
NM_000019.3(ACAT1):c.*591A>T rs886047604 0.00001
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=) rs1453736760 0.00001
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=) rs756978324 0.00001
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=) rs778512952 0.00001
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093 0.00001
NM_000019.4(ACAT1):c.1163+1G>A rs1423476705 0.00001
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.1189C>A (p.His397Asn) rs746332363 0.00001
NM_000019.4(ACAT1):c.1191T>C (p.His397=) rs1439617035 0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000019.4(ACAT1):c.120+1G>C rs779908220 0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000019.4(ACAT1):c.1263C>T (p.Ala421=) rs1382129086 0.00001
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=) rs1430318016 0.00001
NM_000019.4(ACAT1):c.129C>T (p.Val43=) rs773917391 0.00001
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) rs763375578 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=) rs757128075 0.00001
NM_000019.4(ACAT1):c.1A>G (p.Met1Val) rs1305448140 0.00001
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met) rs1465674363 0.00001
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys) rs772848693 0.00001
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter) rs748425041 0.00001
NM_000019.4(ACAT1):c.267A>G (p.Ala89=) rs1380608828 0.00001
NM_000019.4(ACAT1):c.30del (p.Ser10fs) rs1565281236 0.00001
NM_000019.4(ACAT1):c.348T>C (p.Ser116=) rs372836412 0.00001
NM_000019.4(ACAT1):c.354A>G (p.Pro118=) rs762367702 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.378T>C (p.Cys126=) rs536301499 0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) rs1591363760 0.00001
NM_000019.4(ACAT1):c.39C>T (p.Arg13=) rs908924449 0.00001
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu) rs750876321 0.00001
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr) rs758930842 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.438T>C (p.Asp146=) rs1447450319 0.00001
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys) rs757688736 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.477T>G (p.Val159=) rs1200544048 0.00001
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile) rs778705529 0.00001
NM_000019.4(ACAT1):c.48C>T (p.Ser16=) rs1196108614 0.00001
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325 0.00001
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val) rs915506786 0.00001
NM_000019.4(ACAT1):c.627T>C (p.Asn209=) rs771160678 0.00001
NM_000019.4(ACAT1):c.699T>C (p.Asn233=) rs1409696819 0.00001
NM_000019.4(ACAT1):c.72+13C>T rs780504384 0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs) rs1565293957 0.00001
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys) rs2077588609 0.00001
NM_000019.4(ACAT1):c.759T>C (p.Asp253=) rs983216159 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.826+5_826+9del rs1410743762 0.00001
NM_000019.4(ACAT1):c.864T>C (p.Asp288=) rs747272327 0.00001
NM_000019.4(ACAT1):c.867A>C (p.Gly289=) rs201725995 0.00001
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro) rs1420321267 0.00001
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val) rs747860630 0.00001
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser) rs562043215 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) rs780486838 0.00001
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala) rs1184689716 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter) rs1469248513 0.00001
NC_000011.10:g.(?_108121597)_(108147400_?)del
NC_000011.10:g.(?_108138888)_(108140225_?)del
NC_000011.9:g.(?_107992324)_(107992415_?)del
NC_000011.9:g.(?_107992334)_(108010962_?)del
NC_000011.9:g.(?_108002614)_(108005989_?)del
NC_000011.9:g.(?_108002614)_(108009788_?)del
NC_000011.9:g.(?_108004527)_(108005063_?)del
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108005849)_(108005989_?)del
NC_000011.9:g.(?_108006357)_(108009701_?)del
NC_000011.9:g.(?_108009605)_(108017106_?)del
NC_000011.9:g.(?_108009615)_(108009778_?)del
NC_000011.9:g.(?_108009615)_(108018127_?)del
NC_000011.9:g.(?_108010782)_(108012437_?)del
NC_000011.9:g.(?_108016909)_(108017106_?)del
NC_000011.9:g.(?_108017977)_(108018117_?)del
NM_000019.3(ACAT1):c.*234_*235delCT rs1295289344
NM_000019.3(ACAT1):c.*467_*470dup rs537463051
NM_000019.3(ACAT1):c.*668G>T rs2077754843
NM_000019.3(ACAT1):c.*675A>C rs886047605
NM_000019.3(ACAT1):c.*703T>C rs188826374
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup
NM_000019.4(ACAT1):c.*107dup rs886047598
NM_000019.4(ACAT1):c.*123_*127dup rs556749538
NM_000019.4(ACAT1):c.*55T>C rs886047597
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.-22C>T rs3741054
NM_000019.4(ACAT1):c.1005+11A>C
NM_000019.4(ACAT1):c.1005+11A>T
NM_000019.4(ACAT1):c.1005+19G>A rs1239413602
NM_000019.4(ACAT1):c.1005+19G>T
NM_000019.4(ACAT1):c.1005+1G>A rs2134780623
NM_000019.4(ACAT1):c.1005+20C>T
NM_000019.4(ACAT1):c.1005+20dup
NM_000019.4(ACAT1):c.1005+2T>G
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1006-15T>C
NM_000019.4(ACAT1):c.1006-16T>C
NM_000019.4(ACAT1):c.1006-17C>A
NM_000019.4(ACAT1):c.1006-18T>A
NM_000019.4(ACAT1):c.1006-18T>C
NM_000019.4(ACAT1):c.1006-1G>A rs1131691567
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1006-21C>A
NM_000019.4(ACAT1):c.1006-4T>G
NM_000019.4(ACAT1):c.1006-7A>T
NM_000019.4(ACAT1):c.1006-8A>C
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs) rs1591374544
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup) rs1591374552
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met)
NM_000019.4(ACAT1):c.1020G>A (p.Val340=) rs2077705283
NM_000019.4(ACAT1):c.1023A>G (p.Gly341=)
NM_000019.4(ACAT1):c.1023A>T (p.Gly341=)
NM_000019.4(ACAT1):c.1024T>C (p.Leu342=)
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) rs1565297723
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) rs781496140
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) rs1338023969
NM_000019.4(ACAT1):c.1043del (p.Ala348fs) rs1565297769
NM_000019.4(ACAT1):c.1044A>C (p.Ala348=) rs2134791187
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) rs1367121673
NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)
NM_000019.4(ACAT1):c.1053A>G (p.Glu351=)
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys) rs1591374629
NM_000019.4(ACAT1):c.1059T>C (p.Asn353=) rs1591374629
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys) rs1591374629
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val) rs1591374632
NM_000019.4(ACAT1):c.1077T>G (p.Val359=)
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)
NM_000019.4(ACAT1):c.1081C>T (p.Leu361=)
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1089C>T (p.Asn363=)
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val)
NM_000019.4(ACAT1):c.1097dup (p.Met366fs)
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val) rs774524997
NM_000019.4(ACAT1):c.10C>T (p.Leu4=)
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter) rs2134791556
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter) rs2134791667
NM_000019.4(ACAT1):c.1116A>G (p.Gln372=)
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter) rs2134791703
NM_000019.4(ACAT1):c.1128C>A (p.Ile376=)
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=) rs928429664
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs) rs2134791752
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=) rs751682437
NM_000019.4(ACAT1):c.1134A>G (p.Gly378=) rs2134791835
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
NM_000019.4(ACAT1):c.1163+11A>G
NM_000019.4(ACAT1):c.1163+14A>G
NM_000019.4(ACAT1):c.1163+15_1163+17del rs748465398
NM_000019.4(ACAT1):c.1163+16_1163+18del
NM_000019.4(ACAT1):c.1163+18C>T
NM_000019.4(ACAT1):c.1163+19T>G
NM_000019.4(ACAT1):c.1163+20A>C
NM_000019.4(ACAT1):c.1163+20A>G
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) rs773491386
NM_000019.4(ACAT1):c.1163G>C (p.Gly388Ala)
NM_000019.4(ACAT1):c.1164-11C>T
NM_000019.4(ACAT1):c.1164-17T>C
NM_000019.4(ACAT1):c.1164-4T>C
NM_000019.4(ACAT1):c.1164-4T>G
NM_000019.4(ACAT1):c.1164-7A>C
NM_000019.4(ACAT1):c.1164-8_1164-4dup
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile) rs377295639
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro) rs1184088336
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs) rs1565298653
NM_000019.4(ACAT1):c.1176C>G (p.Ala392=)
NM_000019.4(ACAT1):c.1179G>A (p.Arg393=)
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs) rs2077737059
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) rs746332363
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg) rs2134797745
NM_000019.4(ACAT1):c.1192T>C (p.Leu398=)
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=)
NM_000019.4(ACAT1):c.120+17G>A
NM_000019.4(ACAT1):c.120+1G>A
NM_000019.4(ACAT1):c.120+1G>T rs779908220
NM_000019.4(ACAT1):c.120+20C>G
NM_000019.4(ACAT1):c.120+20C>T
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs) rs1057520091
NM_000019.4(ACAT1):c.1203C>T (p.Ala401=)
NM_000019.4(ACAT1):c.1204T>C (p.Leu402=)
NM_000019.4(ACAT1):c.1206G>A (p.Leu402=)
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
NM_000019.4(ACAT1):c.121-12G>A
NM_000019.4(ACAT1):c.121-13T>A rs1591361903
NM_000019.4(ACAT1):c.121-19C>T
NM_000019.4(ACAT1):c.121-2A>G rs2135334384
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.121-8C>T
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter)
NM_000019.4(ACAT1):c.1215A>C (p.Gly405=)
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) rs553101581
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs) rs1591375843
NM_000019.4(ACAT1):c.1224T>C (p.Gly408=) rs1218523313
NM_000019.4(ACAT1):c.1230C>T (p.Ala410=)
NM_000019.4(ACAT1):c.1233T>C (p.Ser411=) rs2077740550
NM_000019.4(ACAT1):c.1239C>T (p.Cys413=) rs2134798301
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp) rs2134798319
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer) rs1591375882
NM_000019.4(ACAT1):c.1245A>G (p.Gly415=)
NM_000019.4(ACAT1):c.1248A>G (p.Gly416=)
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup) rs2077741217
NM_000019.4(ACAT1):c.1260T>C (p.Ser420=)
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
NM_000019.4(ACAT1):c.126G>A (p.Val42=)
NM_000019.4(ACAT1):c.126G>T (p.Val42=) rs2135334412
NM_000019.4(ACAT1):c.1272T>A (p.Ile424=)
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr) rs2077742350
NM_000019.4(ACAT1):c.1278G>A (p.Lys426=)
NM_000019.4(ACAT1):c.1279C>T (p.Leu427=) rs201500937
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr) rs2135334430
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu)
NM_000019.4(ACAT1):c.134dup (p.Ser46fs) rs1444451434
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val) rs545826042
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.15G>T (p.Ala5=)
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.170del (p.Gly57fs)
NM_000019.4(ACAT1):c.174C>T (p.Ser58=) rs147018814
NM_000019.4(ACAT1):c.177T>G (p.Leu59=) rs2135334620
NM_000019.4(ACAT1):c.180C>G (p.Ser60=) rs1246350270
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs)
NM_000019.4(ACAT1):c.189A>C (p.Pro63=)
NM_000019.4(ACAT1):c.18A>G (p.Ala6=)
NM_000019.4(ACAT1):c.192C>T (p.Ala64=) rs2135334679
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
NM_000019.4(ACAT1):c.213A>C (p.Ala71=)
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.21T>G (p.Leu7=)
NM_000019.4(ACAT1):c.229del (p.Glu77fs) rs2077411287
NM_000019.4(ACAT1):c.233del (p.Lys78fs) rs2135334849
NM_000019.4(ACAT1):c.234G>A (p.Lys78=)
NM_000019.4(ACAT1):c.238+11A>G
NM_000019.4(ACAT1):c.238+13T>C
NM_000019.4(ACAT1):c.238+1G>A
NM_000019.4(ACAT1):c.238+20T>C
NM_000019.4(ACAT1):c.238+20T>G
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.238+2T>C
NM_000019.4(ACAT1):c.238+8G>T rs2135334879
NM_000019.4(ACAT1):c.239-10_239-8del
NM_000019.4(ACAT1):c.239-11_239-8del
NM_000019.4(ACAT1):c.239-13T>G
NM_000019.4(ACAT1):c.239-17_239-16insC
NM_000019.4(ACAT1):c.239-6dup rs2077417137
NM_000019.4(ACAT1):c.239-7A>G rs2077417069
NM_000019.4(ACAT1):c.239-8del rs201199156
NM_000019.4(ACAT1):c.239-9_239-8del rs201199156
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs)
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.24G>T (p.Leu8=)
NM_000019.4(ACAT1):c.252del (p.Glu85fs) rs2135336077
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu) rs1235436246
NM_000019.4(ACAT1):c.261dup (p.Glu88fs) rs1201662412
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala) rs1565288701
NM_000019.4(ACAT1):c.264A>G (p.Glu88=) rs1406647087
NM_000019.4(ACAT1):c.267A>C (p.Ala89=) rs1380608828
NM_000019.4(ACAT1):c.272del (p.Met91fs)
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) rs1591362402
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.27C>T (p.Arg9=) rs1437592865
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) rs1233969418
NM_000019.4(ACAT1):c.291A>C (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.291A>G (p.Gly97=)
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu) rs1591362472
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) rs120074142
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys) rs1591362483
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)
NM_000019.4(ACAT1):c.303A>G (p.Gln101=)
NM_000019.4(ACAT1):c.312A>G (p.Thr104=) rs2135336378
NM_000019.4(ACAT1):c.315G>A (p.Arg105=)
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter) rs2135336400
NM_000019.4(ACAT1):c.318G>A (p.Gln106=)
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)
NM_000019.4(ACAT1):c.321A>T (p.Ala107=)
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)
NM_000019.4(ACAT1):c.330T>C (p.Gly110=) rs2135336464
NM_000019.4(ACAT1):c.330dup (p.Ala111fs)
NM_000019.4(ACAT1):c.333A>G (p.Ala111=) rs2135336477
NM_000019.4(ACAT1):c.334+16T>C
NM_000019.4(ACAT1):c.334+172C>G rs12226047
NM_000019.4(ACAT1):c.334+18_334+19del
NM_000019.4(ACAT1):c.334+19T>G
NM_000019.4(ACAT1):c.334+1G>A rs1591362533
NM_000019.4(ACAT1):c.334+2T>A
NM_000019.4(ACAT1):c.334+8G>A rs1336705723
NM_000019.4(ACAT1):c.335-12T>C
NM_000019.4(ACAT1):c.335-16C>T
NM_000019.4(ACAT1):c.335-19T>C
NM_000019.4(ACAT1):c.335-20G>A
NM_000019.4(ACAT1):c.335-20G>C
NM_000019.4(ACAT1):c.335-2A>G
NM_000019.4(ACAT1):c.335-3del
NM_000019.4(ACAT1):c.335-4T>G
NM_000019.4(ACAT1):c.33C>T (p.Gly11=)
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser)
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) rs1591363674
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly)
NM_000019.4(ACAT1):c.360C>T (p.Thr120=) rs2135341517
NM_000019.4(ACAT1):c.363_364insT (p.Ile122fs)
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
NM_000019.4(ACAT1):c.36C>G (p.Ala12=) rs1333520451
NM_000019.4(ACAT1):c.36C>T (p.Ala12=) rs1333520451
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu) rs1591363715
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg) rs1037467160
NM_000019.4(ACAT1):c.372dup (p.Val125fs)
NM_000019.4(ACAT1):c.375T>C (p.Val125=) rs767382364
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs)
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs) rs2135341631
NM_000019.4(ACAT1):c.381_396del (p.Ser128_Gly129insTer)
NM_000019.4(ACAT1):c.384A>C (p.Ser128=)
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly) rs1591363786
NM_000019.4(ACAT1):c.399C>T (p.Ile133=) rs2135341722
NM_000019.4(ACAT1):c.39C>A (p.Arg13=)
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile)
NM_000019.4(ACAT1):c.408C>A (p.Ala136=)
NM_000019.4(ACAT1):c.410C>T (p.Ser137Phe)
NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs)
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs) rs1591363795
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) rs1591363800
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe) rs2077446791
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)
NM_000019.4(ACAT1):c.42C>T (p.Ser14=) rs1436280151
NM_000019.4(ACAT1):c.431A>C (p.His144Pro) rs1025180934
NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter)
NM_000019.4(ACAT1):c.435+11C>T
NM_000019.4(ACAT1):c.435+12C>T
NM_000019.4(ACAT1):c.435+13G>A
NM_000019.4(ACAT1):c.435+19C>T
NM_000019.4(ACAT1):c.435+1G>A rs1591363834
NM_000019.4(ACAT1):c.435+20C>T
NM_000019.4(ACAT1):c.435+4A>G rs1424341036
NM_000019.4(ACAT1):c.436-12G>A
NM_000019.4(ACAT1):c.436-13T>C
NM_000019.4(ACAT1):c.436-14G>A
NM_000019.4(ACAT1):c.436-15G>A
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-8C>T rs2135355544
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn) rs2077523952
NM_000019.4(ACAT1):c.446del (p.Val149fs) rs1591367375
NM_000019.4(ACAT1):c.447G>A (p.Val149=)
NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del)
NM_000019.4(ACAT1):c.459G>A (p.Met153Ile)
NM_000019.4(ACAT1):c.45C>T (p.Arg15=) rs2135283693
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys) rs1198149157
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs) rs1591367422
NM_000019.4(ACAT1):c.474T>C (p.Asn158=)
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
NM_000019.4(ACAT1):c.477T>C (p.Val159=)
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs) rs2135356039
NM_000019.4(ACAT1):c.492C>T (p.Asn164=) rs2135356062
NM_000019.4(ACAT1):c.495_496del (p.Gly166fs)
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) rs201456540
NM_000019.4(ACAT1):c.510T>C (p.Tyr170=)
NM_000019.4(ACAT1):c.513T>C (p.Gly171=) rs1388288534
NM_000019.4(ACAT1):c.51C>A (p.Pro17=)
NM_000019.4(ACAT1):c.51C>G (p.Pro17=) rs765733417
NM_000019.4(ACAT1):c.527A>G (p.Glu176Gly)
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.531T>C (p.Asp177=)
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe) rs1320114846
NM_000019.4(ACAT1):c.537T>C (p.Ile179=)
NM_000019.4(ACAT1):c.537del (p.Ile179fs) rs1415293773
NM_000019.4(ACAT1):c.542_543del (p.Lys181fs)
NM_000019.4(ACAT1):c.549G>A (p.Gly183=)
NM_000019.4(ACAT1):c.550C>T (p.Leu184=) rs2135356370
NM_000019.4(ACAT1):c.552_555del (p.Thr185fs)
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr) rs1591367592
NM_000019.4(ACAT1):c.571del (p.Ile191fs) rs761038005
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) rs2077528154
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.579+17G>T
NM_000019.4(ACAT1):c.579+2T>A rs112950994
NM_000019.4(ACAT1):c.579+7G>A
NM_000019.4(ACAT1):c.57C>A (p.Leu19=) rs540416798
NM_000019.4(ACAT1):c.57C>T (p.Leu19=) rs540416798
NM_000019.4(ACAT1):c.580-14C>A
NM_000019.4(ACAT1):c.580-2A>G
NM_000019.4(ACAT1):c.580-5dup rs2134760866
NM_000019.4(ACAT1):c.580-7T>C rs565210496
NM_000019.4(ACAT1):c.580-8T>C
NM_000019.4(ACAT1):c.580-93_626del
NM_000019.4(ACAT1):c.588T>C (p.Cys196=)
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs)
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val) rs1591368724
NM_000019.4(ACAT1):c.603A>G (p.Ala201=) rs1591368730
NM_000019.4(ACAT1):c.609G>A (p.Lys203=)
NM_000019.4(ACAT1):c.615T>C (p.Asn205=)
NM_000019.4(ACAT1):c.619del (p.Ala207fs)
NM_000019.4(ACAT1):c.622C>A (p.Arg208=) rs532190594
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.626dup (p.Asn209fs)
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter)
NM_000019.4(ACAT1):c.630A>G (p.Glu210=)
NM_000019.4(ACAT1):c.633G>A (p.Gln211=) rs2134761170
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=) rs761282960
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter) rs761282960
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn) rs1591368794
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter)
NM_000019.4(ACAT1):c.64_72+10del rs1318268067
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) rs879255505
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His) rs1437567292
NM_000019.4(ACAT1):c.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT (p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2134761257
NM_000019.4(ACAT1):c.657T>C (p.Tyr219=)
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg) rs1591368826
NM_000019.4(ACAT1):c.666T>C (p.Ser222=) rs2134761387
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro) rs2134761406
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu) rs1385465985
NM_000019.4(ACAT1):c.681A>G (p.Glu227=) rs2134761453
NM_000019.4(ACAT1):c.684T>C (p.Ala228=) rs2134761476
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro) rs2077152202
NM_000019.4(ACAT1):c.72+10G>A
NM_000019.4(ACAT1):c.72+10G>T rs1324987267
NM_000019.4(ACAT1):c.72+15T>A
NM_000019.4(ACAT1):c.72+17C>T
NM_000019.4(ACAT1):c.72+19C>T
NM_000019.4(ACAT1):c.72+6C>A
NM_000019.4(ACAT1):c.72+8G>C
NM_000019.4(ACAT1):c.720dup (p.Thr241fs)
NM_000019.4(ACAT1):c.721dup (p.Thr241fs)
NM_000019.4(ACAT1):c.73-10T>C
NM_000019.4(ACAT1):c.73-10T>G
NM_000019.4(ACAT1):c.73-13A>G
NM_000019.4(ACAT1):c.73-16_73-13del rs764584922
NM_000019.4(ACAT1):c.73-17_73-12del
NM_000019.4(ACAT1):c.73-18T>C
NM_000019.4(ACAT1):c.73-1G>A
NM_000019.4(ACAT1):c.73-20_73-18del rs761134266
NM_000019.4(ACAT1):c.73-9A>G
NM_000019.4(ACAT1):c.730+1G>A rs1591368919
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.730+6G>C
NM_000019.4(ACAT1):c.730+8T>G rs1203808396
NM_000019.4(ACAT1):c.731-10_731-8del
NM_000019.4(ACAT1):c.731-1G>A
NM_000019.4(ACAT1):c.731-20T>C
NM_000019.4(ACAT1):c.731-20T>G
NM_000019.4(ACAT1):c.731-2A>G rs752216720
NM_000019.4(ACAT1):c.731-46_752del rs1591370141
NM_000019.4(ACAT1):c.731-6T>C rs574669264
NM_000019.4(ACAT1):c.732T>A (p.Gly244=) rs2134768518
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter) rs2134768525
NM_000019.4(ACAT1):c.738A>G (p.Pro246=) rs2134768546
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile)
NM_000019.4(ACAT1):c.744_746del (p.Val250del)
NM_000019.4(ACAT1):c.747G>C (p.Val249=)
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del) rs765961551
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs) rs1591370221
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu) rs983216159
NM_000019.4(ACAT1):c.75_76del (p.Glu25fs)
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys) rs1591370241
NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter) rs2134768688
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala) rs1591370252
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
NM_000019.4(ACAT1):c.76dup (p.Ile26fs)
NM_000019.4(ACAT1):c.774T>G (p.Arg258=) rs778592070
NM_000019.4(ACAT1):c.777T>C (p.Val259=) rs2134768842
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter) rs2134768866
NM_000019.4(ACAT1):c.789del (p.Val264fs)
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) rs1591360326
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
NM_000019.4(ACAT1):c.807A>G (p.Thr269=) rs2134768930
NM_000019.4(ACAT1):c.810T>C (p.Val270=) rs768923639
NM_000019.4(ACAT1):c.814del (p.Gln272fs)
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000019.4(ACAT1):c.826+10A>G
NM_000019.4(ACAT1):c.826+15A>G
NM_000019.4(ACAT1):c.826+16T>C
NM_000019.4(ACAT1):c.826+19A>C
NM_000019.4(ACAT1):c.826+20G>A
NM_000019.4(ACAT1):c.826+2T>C rs2077590197
NM_000019.4(ACAT1):c.826+2T>G rs2077590197
NM_000019.4(ACAT1):c.826+3_826+6del
NM_000019.4(ACAT1):c.826+5G>T rs1591370366
NM_000019.4(ACAT1):c.826+7G>A
NM_000019.4(ACAT1):c.826+85_826+86insGTAA rs10682490
NM_000019.4(ACAT1):c.827-12T>G rs2134772377
NM_000019.4(ACAT1):c.827-16T>A
NM_000019.4(ACAT1):c.827-16T>C
NM_000019.4(ACAT1):c.827-16_827-15del
NM_000019.4(ACAT1):c.827-17C>G
NM_000019.4(ACAT1):c.827-18C>A
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro) rs1591371019
NM_000019.4(ACAT1):c.831A>G (p.Thr277=) rs2077608173
NM_000019.4(ACAT1):c.835del (p.Thr279fs)
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr) rs1318357125
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs) rs749873354
NM_000019.4(ACAT1):c.844A>C (p.Asn282His) rs750195919
NM_000019.4(ACAT1):c.846T>C (p.Asn282=) rs2134772561
NM_000019.4(ACAT1):c.846dup (p.Ala283fs) rs2134772571
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn) rs1591371045
NM_000019.4(ACAT1):c.852T>C (p.Ser284=)
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.855A>C (p.Thr285=)
NM_000019.4(ACAT1):c.855A>G (p.Thr285=)
NM_000019.4(ACAT1):c.861T>C (p.Asn287=)
NM_000019.4(ACAT1):c.867A>T (p.Gly289=)
NM_000019.4(ACAT1):c.869dup (p.Ala291fs)
NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs) rs1591360348
NM_000019.4(ACAT1):c.876T>C (p.Ala292=)
NM_000019.4(ACAT1):c.879G>A (p.Leu293=)
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) rs886041122
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000019.4(ACAT1):c.903G>T (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.905del (p.Lys302fs) rs398123097
NM_000019.4(ACAT1):c.912C>A (p.Leu304=)
NM_000019.4(ACAT1):c.915T>C (p.Asn305=) rs2134773010
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) rs2077610591
NM_000019.4(ACAT1):c.930A>G (p.Ala310=)
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
NM_000019.4(ACAT1):c.936A>T (p.Ile312=)
NM_000019.4(ACAT1):c.93G>A (p.Arg31=)
NM_000019.4(ACAT1):c.940+12C>A
NM_000019.4(ACAT1):c.940+12C>G
NM_000019.4(ACAT1):c.940+13G>A
NM_000019.4(ACAT1):c.940+14_940+18del
NM_000019.4(ACAT1):c.940+15G>A
NM_000019.4(ACAT1):c.940+15_940+25del
NM_000019.4(ACAT1):c.940+16_940+20del rs2134773385
NM_000019.4(ACAT1):c.940+1G>T rs1591371185
NM_000019.4(ACAT1):c.940+20C>G
NM_000019.4(ACAT1):c.940+2T>C rs963023006
NM_000019.4(ACAT1):c.940+2dup rs2134773243
NM_000019.4(ACAT1):c.940+7C>G
NM_000019.4(ACAT1):c.940+84C>T rs12794010
NM_000019.4(ACAT1):c.941-13T>C rs760991373
NM_000019.4(ACAT1):c.941-14_941-13del
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.941-15C>A
NM_000019.4(ACAT1):c.941-15C>G
NM_000019.4(ACAT1):c.941-15C>T rs759374737
NM_000019.4(ACAT1):c.941-16C>A
NM_000019.4(ACAT1):c.941-16C>G rs770980645
NM_000019.4(ACAT1):c.941-16C>T
NM_000019.4(ACAT1):c.941-16_941-15insA
NM_000019.4(ACAT1):c.941-17C>A
NM_000019.4(ACAT1):c.941-17C>G
NM_000019.4(ACAT1):c.941-18C>G
NM_000019.4(ACAT1):c.941-18C>T
NM_000019.4(ACAT1):c.941-18_941-17insG
NM_000019.4(ACAT1):c.941-19C>T
NM_000019.4(ACAT1):c.941-20C>A
NM_000019.4(ACAT1):c.941-7del rs376661693
NM_000019.4(ACAT1):c.941-9T>A rs980651269
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) rs1591372596
NM_000019.4(ACAT1):c.960A>G (p.Val320=)
NM_000019.4(ACAT1):c.962_963del (p.Glu321fs)
NM_000019.4(ACAT1):c.972T>C (p.Asp324=)
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000019.4(ACAT1):c.984T>A (p.Ala328=) rs745826234
NM_000019.4(ACAT1):c.987T>C (p.Pro329=)
NM_000019.4(ACAT1):c.996T>C (p.Ala332=) rs2134780546
NM_000019.4(ACAT1):c.99T>C (p.Tyr33=)
NM_000019.4(ACAT1):c.9G>A (p.Val3=)
NM_001386678.1(ACAT1):c.120+2267_120+2268del

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