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: 701
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.435+78A>C rs10890817 0.49701
NM_000019.4(ACAT1):c.334+172C>G rs12226047 0.34293
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 0.27470
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.27272
NM_000019.4(ACAT1):c.940+84C>T rs12794010 0.26535
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 0.02064
NM_000019.3(ACAT1):c.*555A>G rs111376037 0.01843
NM_000019.4(ACAT1):c.*179T>G rs114728153 0.01215
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 0.00908
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00896
NM_000019.3(ACAT1):c.*214G>C rs145690535 0.00780
NM_000019.4(ACAT1):c.941-14C>T rs12801620 0.00658
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00359
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00292
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 0.00169
NM_000019.3(ACAT1):c.*553T>A rs183999318 0.00131
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039 0.00092
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 0.00043
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 0.00021
NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile) rs142869776 0.00019
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=) rs760794308 0.00014
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000019.4(ACAT1):c.1164-14T>C rs111849528 0.00013
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val) rs369440498 0.00012
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00012
NM_000019.3(ACAT1):c.*397C>T rs568860814 0.00011
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.239-8T>A rs202030208 0.00008
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545 0.00007
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp) rs199952982 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.891G>A (p.Thr297=) rs372169445 0.00006
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_000019.4(ACAT1):c.85G>T (p.Val29Leu) rs764142914 0.00005
NM_000019.4(ACAT1):c.941-15C>G rs759374737 0.00005
NM_000019.3(ACAT1):c.*464A>G rs886047602 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.546C>T (p.Asp182=) rs373393997 0.00004
NM_000019.4(ACAT1):c.580-14C>A rs751093781 0.00004
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 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.730+12G>A rs559179516 0.00004
NM_000019.4(ACAT1):c.730+6G>C rs1298823697 0.00004
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435 0.00004
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser) rs562043215 0.00004
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899 0.00004
NM_000019.4(ACAT1):c.1006-17C>G rs1409314804 0.00003
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.375T>C (p.Val125=) rs767382364 0.00003
NM_000019.4(ACAT1):c.435+12C>T rs374716267 0.00003
NM_000019.4(ACAT1):c.435+13G>A rs569073645 0.00003
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00003
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr) rs772087249 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.1005+20C>T rs1213211967 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.335-20G>C rs377006824 0.00002
NM_000019.4(ACAT1):c.342T>A (p.Pro114=) rs941750006 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.687G>A (p.Gly229=) rs545578010 0.00002
NM_000019.4(ACAT1):c.72+6C>A rs543929400 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.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.1005+20dup rs758470840 0.00001
NM_000019.4(ACAT1):c.1006-4T>G rs762043578 0.00001
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met) rs1168919899 0.00001
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=) rs1453736760 0.00001
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) rs1338023969 0.00001
NM_000019.4(ACAT1):c.1077T>G (p.Val359=) rs2077706966 0.00001
NM_000019.4(ACAT1):c.1081C>T (p.Leu361=) rs547532857 0.00001
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=) rs756978324 0.00001
NM_000019.4(ACAT1):c.10C>T (p.Leu4=) rs774524997 0.00001
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=) rs778512952 0.00001
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=) rs928429664 0.00001
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=) rs751682437 0.00001
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val) rs780994047 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.1164-17T>C rs1474682648 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.1209G>A (p.Lys403=) rs200729208 0.00001
NM_000019.4(ACAT1):c.121-8C>T rs1465752694 0.00001
NM_000019.4(ACAT1):c.1230C>T (p.Ala410=) rs189339614 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.140C>T (p.Ala47Val) rs545826042 0.00001
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile) rs1268424543 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.209T>C (p.Ile70Thr) rs2077410820 0.00001
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met) rs1465674363 0.00001
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622 0.00001
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys) rs772848693 0.00001
NM_000019.4(ACAT1):c.238+11A>G rs770069051 0.00001
NM_000019.4(ACAT1):c.238+13T>C rs1185256164 0.00001
NM_000019.4(ACAT1):c.267A>G (p.Ala89=) rs1380608828 0.00001
NM_000019.4(ACAT1):c.303A>G (p.Gln101=) rs772492360 0.00001
NM_000019.4(ACAT1):c.321A>T (p.Ala107=) rs2077419225 0.00001
NM_000019.4(ACAT1):c.325T>C (p.Leu109=) rs772625970 0.00001
NM_000019.4(ACAT1):c.334+2T>A rs1346954123 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.36C>T (p.Ala12=) rs1333520451 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.399C>T (p.Ile133=) rs2135341722 0.00001
NM_000019.4(ACAT1):c.39C>A (p.Arg13=) rs908924449 0.00001
NM_000019.4(ACAT1):c.39C>T (p.Arg13=) rs908924449 0.00001
NM_000019.4(ACAT1):c.410C>T (p.Ser137Phe) rs2077446589 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.436-14G>A rs745360607 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.474T>C (p.Asn158=) rs2077525266 0.00001
NM_000019.4(ACAT1):c.477T>G (p.Val159=) rs1200544048 0.00001
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485 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.49C>T (p.Pro17Ser) rs573208198 0.00001
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala) rs577313004 0.00001
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325 0.00001
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496 0.00001
NM_000019.4(ACAT1):c.580-7T>C rs565210496 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.657T>C (p.Tyr219=) rs2077557732 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.72+17C>T rs1487406491 0.00001
NM_000019.4(ACAT1):c.73-18T>C rs1375239819 0.00001
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile) rs954526075 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+10A>G rs1170194787 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.827-17C>G rs753723144 0.00001
NM_000019.4(ACAT1):c.846T>C (p.Asn282=) rs2134772561 0.00001
NM_000019.4(ACAT1):c.852T>C (p.Ser284=) rs200210306 0.00001
NM_000019.4(ACAT1):c.861T>C (p.Asn287=) rs1351732995 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.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.940+13G>A rs778115454 0.00001
NM_000019.4(ACAT1):c.941-14_941-13del rs1491519629 0.00001
NM_000019.4(ACAT1):c.941-16_941-15insA rs757155914 0.00001
NM_000019.4(ACAT1):c.941-18C>G rs1254901206 0.00001
NM_000019.4(ACAT1):c.941-19C>T rs747883426 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.968T>C (p.Ile323Thr) rs755806238 0.00001
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala) rs777350099 0.00001
NM_000019.4(ACAT1):c.984T>A (p.Ala328=) rs745826234 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_000011.10:g.108148169TTAA[2] rs112801981
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: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 rs2496647331
NM_000019.4(ACAT1):c.1005+11A>T rs2496647331
NM_000019.4(ACAT1):c.1005+19G>A rs1239413602
NM_000019.4(ACAT1):c.1005+19G>T rs1239413602
NM_000019.4(ACAT1):c.1005+1G>A rs2134780623
NM_000019.4(ACAT1):c.1005+2T>G rs2496647256
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1006-15T>C rs2496658492
NM_000019.4(ACAT1):c.1006-16T>C rs2496658470
NM_000019.4(ACAT1):c.1006-17C>A rs1409314804
NM_000019.4(ACAT1):c.1006-18T>A rs2496658445
NM_000019.4(ACAT1):c.1006-18T>C rs2496658445
NM_000019.4(ACAT1):c.1006-19G>A
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 rs2496658420
NM_000019.4(ACAT1):c.1006-7A>T rs776810168
NM_000019.4(ACAT1):c.1006-8A>C rs368682208
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.1020G>A (p.Val340=) rs2077705283
NM_000019.4(ACAT1):c.1023A>G (p.Gly341=) rs2496658705
NM_000019.4(ACAT1):c.1023A>T (p.Gly341=) rs2496658705
NM_000019.4(ACAT1):c.1024T>C (p.Leu342=) rs2496658717
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.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) rs2077368830
NM_000019.4(ACAT1):c.1053A>G (p.Glu351=) rs2496658986
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.1074_1094delinsCC (p.Val359fs)
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile) rs2496659154
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1086A>G (p.Ala362=)
NM_000019.4(ACAT1):c.1089C>T (p.Asn363=) rs2496659247
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val) rs1565297833
NM_000019.4(ACAT1):c.1097dup (p.Met366fs) rs2496659335
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val) rs774524997
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=) rs780007425
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter) rs2134791703
NM_000019.4(ACAT1):c.1128C>A (p.Ile376=) rs928429664
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs) rs2134791752
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.1163+11A>G rs2496659941
NM_000019.4(ACAT1):c.1163+14A>G rs1479086721
NM_000019.4(ACAT1):c.1163+15_1163+17del rs748465398
NM_000019.4(ACAT1):c.1163+16_1163+18del rs2496659988
NM_000019.4(ACAT1):c.1163+18C>T rs2496660017
NM_000019.4(ACAT1):c.1163+19T>G rs891943841
NM_000019.4(ACAT1):c.1163+20A>C rs770967192
NM_000019.4(ACAT1):c.1163+20A>G rs770967192
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) rs773491386
NM_000019.4(ACAT1):c.1163G>C (p.Gly388Ala) rs773491386
NM_000019.4(ACAT1):c.1164-11C>T rs1565298619
NM_000019.4(ACAT1):c.1164-4T>C rs2496666470
NM_000019.4(ACAT1):c.1164-4T>G rs2496666470
NM_000019.4(ACAT1):c.1164-7A>C rs2496666454
NM_000019.4(ACAT1):c.1164-8_1164-4dup rs760366592
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=) rs2496666645
NM_000019.4(ACAT1):c.1179G>A (p.Arg393=) rs1377144871
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs) rs2077737059
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu) rs2496666743
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=) rs2496666872
NM_000019.4(ACAT1):c.1192_1193del (p.Leu398fs)
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=) rs2496666923
NM_000019.4(ACAT1):c.11T>C (p.Leu4Pro)
NM_000019.4(ACAT1):c.120+17G>A rs2496570808
NM_000019.4(ACAT1):c.120+1G>A rs779908220
NM_000019.4(ACAT1):c.120+1G>T rs779908220
NM_000019.4(ACAT1):c.120+20C>G rs200633012
NM_000019.4(ACAT1):c.120+20C>T rs200633012
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs) rs1057520091
NM_000019.4(ACAT1):c.1203C>T (p.Ala401=) rs2496667028
NM_000019.4(ACAT1):c.1204T>C (p.Leu402=) rs2077738606
NM_000019.4(ACAT1):c.1206G>A (p.Leu402=) rs2077738712
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter) rs2496667083
NM_000019.4(ACAT1):c.121-12G>A rs1401761046
NM_000019.4(ACAT1):c.121-13T>A rs1591361903
NM_000019.4(ACAT1):c.121-19C>T rs2496580802
NM_000019.4(ACAT1):c.121-2A>G rs2135334384
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter) rs2496667151
NM_000019.4(ACAT1):c.1215A>C (p.Gly405=) rs1316940291
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His) rs2077739478
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.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=) rs2496667770
NM_000019.4(ACAT1):c.1248A>G (p.Gly416=) rs2496667796
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=) rs1591375910
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs) rs2496668129
NM_000019.4(ACAT1):c.126G>A (p.Val42=) rs2135334412
NM_000019.4(ACAT1):c.126G>T (p.Val42=) rs2135334412
NM_000019.4(ACAT1):c.1272T>A (p.Ile424=) rs1565298881
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr) rs2077742350
NM_000019.4(ACAT1):c.1278G>A (p.Lys426=) rs2496668262
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) rs2077408592
NM_000019.4(ACAT1):c.134dup (p.Ser46fs) rs1444451434
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val) rs767448873
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.15G>T (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.170del (p.Gly57fs) rs2496581445
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) rs2496581613
NM_000019.4(ACAT1):c.189A>C (p.Pro63=) rs2496581644
NM_000019.4(ACAT1):c.18A>G (p.Ala6=) rs1324457201
NM_000019.4(ACAT1):c.192C>T (p.Ala64=) rs2135334679
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu) rs1305448140
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg) rs1425401797
NM_000019.4(ACAT1):c.203G>T (p.Gly68Val) rs794727475
NM_000019.4(ACAT1):c.213A>C (p.Ala71=) rs758176568
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter) rs2496581880
NM_000019.4(ACAT1):c.21T>G (p.Leu7=) rs2496515785
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=) rs2496582005
NM_000019.4(ACAT1):c.238+1G>A rs2496582044
NM_000019.4(ACAT1):c.238+20T>C rs1292698018
NM_000019.4(ACAT1):c.238+20T>G rs1292698018
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.238+2T>C rs2135334862
NM_000019.4(ACAT1):c.238+8G>T rs2135334879
NM_000019.4(ACAT1):c.239-10_239-8del rs201199156
NM_000019.4(ACAT1):c.239-11_239-8del rs201199156
NM_000019.4(ACAT1):c.239-13T>G rs2496584298
NM_000019.4(ACAT1):c.239-17_239-16insC rs2496584275
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) rs2496584464
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.24G>T (p.Leu8=) rs1317184933
NM_000019.4(ACAT1):c.252del (p.Glu85fs) rs2135336077
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter) rs748425041
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) rs2496584780
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=) rs746216662
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.291_315dup (p.Gln106delinsArgTer)
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) rs1591362483
NM_000019.4(ACAT1):c.30del (p.Ser10fs) rs1565281236
NM_000019.4(ACAT1):c.312A>G (p.Thr104=) rs2135336378
NM_000019.4(ACAT1):c.315G>A (p.Arg105=) rs776235078
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter) rs2135336400
NM_000019.4(ACAT1):c.318G>A (p.Gln106=) rs761498016
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser) rs928949283
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp) rs2077419436
NM_000019.4(ACAT1):c.330T>C (p.Gly110=) rs2135336464
NM_000019.4(ACAT1):c.330dup (p.Ala111fs) rs2496585397
NM_000019.4(ACAT1):c.333A>G (p.Ala111=) rs2135336477
NM_000019.4(ACAT1):c.334+16T>C rs766216796
NM_000019.4(ACAT1):c.334+18_334+19del rs1231760590
NM_000019.4(ACAT1):c.334+19T>G rs2496585623
NM_000019.4(ACAT1):c.334+1G>A rs1591362533
NM_000019.4(ACAT1):c.334+8G>A rs1336705723
NM_000019.4(ACAT1):c.335-12T>C rs2496591526
NM_000019.4(ACAT1):c.335-16C>T rs2496591485
NM_000019.4(ACAT1):c.335-19T>C rs2496591467
NM_000019.4(ACAT1):c.335-20G>A rs377006824
NM_000019.4(ACAT1):c.335-2A>G rs2496591603
NM_000019.4(ACAT1):c.335-3del rs2496591585
NM_000019.4(ACAT1):c.335-4T>G rs775851641
NM_000019.4(ACAT1):c.33C>T (p.Gly11=) rs761018640
NM_000019.4(ACAT1):c.33delinsGCACTTCT (p.Ala12fs)
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser) rs2077445036
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) rs1591363674
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly) rs1401151306
NM_000019.4(ACAT1):c.360C>T (p.Thr120=) rs2135341517
NM_000019.4(ACAT1):c.363_364insT (p.Ile122fs) rs2496591844
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs) rs2496591869
NM_000019.4(ACAT1):c.36C>G (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) rs2135341565
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs) rs774418317
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs) rs2135341631
NM_000019.4(ACAT1):c.381_396del (p.Ser128_Gly129insTer) rs2496592074
NM_000019.4(ACAT1):c.384A>C (p.Ser128=) rs374439037
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro) rs757252358
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly) rs1591363786
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile) rs2496592273
NM_000019.4(ACAT1):c.408C>A (p.Ala136=) rs2496592317
NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs) rs2496592286
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) rs2077446835
NM_000019.4(ACAT1):c.425G>T (p.Cys142Phe) rs1565289624
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) rs120074148
NM_000019.4(ACAT1):c.435+11C>T rs747385049
NM_000019.4(ACAT1):c.435+19C>T rs2135341945
NM_000019.4(ACAT1):c.435+1G>A rs1591363834
NM_000019.4(ACAT1):c.435+20C>T rs2496592977
NM_000019.4(ACAT1):c.435+4A>G rs1424341036
NM_000019.4(ACAT1):c.436-12G>A rs771773335
NM_000019.4(ACAT1):c.436-13T>C rs2496612389
NM_000019.4(ACAT1):c.436-15G>A rs2496612364
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-7T>C rs775534544
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=) rs765456788
NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del) rs2135355722
NM_000019.4(ACAT1):c.459G>A (p.Met153Ile) rs2496612685
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.475G>A (p.Val159Ile) rs2496612869
NM_000019.4(ACAT1):c.477T>C (p.Val159=) rs1200544048
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter) rs1591367485
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) rs1401882647
NM_000019.4(ACAT1):c.49C>G (p.Pro17Ala)
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) rs201456540
NM_000019.4(ACAT1):c.510T>C (p.Tyr170=) rs2496613297
NM_000019.4(ACAT1):c.513T>C (p.Gly171=) rs1388288534
NM_000019.4(ACAT1):c.51C>A (p.Pro17=) rs765733417
NM_000019.4(ACAT1):c.51C>G (p.Pro17=) rs765733417
NM_000019.4(ACAT1):c.51_52dup (p.Leu18fs)
NM_000019.4(ACAT1):c.527A>G (p.Glu176Gly) rs2496613450
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.531T>C (p.Asp177=) rs1591367555
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe) rs1320114846
NM_000019.4(ACAT1):c.537T>C (p.Ile179=) rs2496613599
NM_000019.4(ACAT1):c.537del (p.Ile179fs) rs1415293773
NM_000019.4(ACAT1):c.542_543del (p.Lys181fs) rs2496613617
NM_000019.4(ACAT1):c.549G>A (p.Gly183=) rs2496613709
NM_000019.4(ACAT1):c.550C>T (p.Leu184=) rs2135356370
NM_000019.4(ACAT1):c.552_555del (p.Thr185fs) rs2077527784
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.579+17G>T rs2496614093
NM_000019.4(ACAT1):c.579+2T>A rs112950994
NM_000019.4(ACAT1):c.579+7G>A rs1487734239
NM_000019.4(ACAT1):c.579+8T>C
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.580-12A>C
NM_000019.4(ACAT1):c.580-2A>G rs2496621154
NM_000019.4(ACAT1):c.580-5dup rs2134760866
NM_000019.4(ACAT1):c.580-8T>C rs2496621101
NM_000019.4(ACAT1):c.580-93_626del rs2496620348
NM_000019.4(ACAT1):c.588T>C (p.Cys196=) rs2496621247
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys) rs2496621294
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs) rs2496621306
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=) rs2496621499
NM_000019.4(ACAT1):c.615T>C (p.Asn205=) rs2496621557
NM_000019.4(ACAT1):c.619del (p.Ala207fs) rs2496621601
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) rs2496621683
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter) rs2496621741
NM_000019.4(ACAT1):c.630A>G (p.Glu210=) rs1011305986
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) rs764568533
NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter) rs764568533
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.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.702A>G (p.Glu234=)
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr) rs1400271424
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter) rs2496516251
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs) rs2496622561
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro) rs2077152202
NM_000019.4(ACAT1):c.72+10G>A rs1324987267
NM_000019.4(ACAT1):c.72+10G>T rs1324987267
NM_000019.4(ACAT1):c.72+15T>A rs2496516344
NM_000019.4(ACAT1):c.72+19C>T rs2496516391
NM_000019.4(ACAT1):c.72+8G>C rs2077152282
NM_000019.4(ACAT1):c.720dup (p.Thr241fs) rs2496622595
NM_000019.4(ACAT1):c.721dup (p.Thr241fs) rs2496622641
NM_000019.4(ACAT1):c.73-10T>C rs2496570136
NM_000019.4(ACAT1):c.73-10T>G rs2496570136
NM_000019.4(ACAT1):c.73-13A>G rs1335784650
NM_000019.4(ACAT1):c.73-16_73-13del rs764584922
NM_000019.4(ACAT1):c.73-17_73-12del rs2496570021
NM_000019.4(ACAT1):c.73-1G>A rs1277676635
NM_000019.4(ACAT1):c.73-20_73-18del rs761134266
NM_000019.4(ACAT1):c.73-9A>G rs2496570156
NM_000019.4(ACAT1):c.730+1G>A rs1591368919
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.730+8T>G rs1203808396
NM_000019.4(ACAT1):c.731-10_731-8del rs2496630708
NM_000019.4(ACAT1):c.731-17A>G
NM_000019.4(ACAT1):c.731-1G>A rs2496630751
NM_000019.4(ACAT1):c.731-20T>C rs1334023508
NM_000019.4(ACAT1):c.731-20T>G rs1334023508
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.744_746del (p.Val250del) rs2496630843
NM_000019.4(ACAT1):c.747G>C (p.Val249=) rs2496630874
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) rs2496570243
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) rs1352801361
NM_000019.4(ACAT1):c.76dup (p.Ile26fs) rs2496570243
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) rs2496631337
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) rs1591360326
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs) rs1476922493
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) rs2496631494
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000019.4(ACAT1):c.826+15A>G rs2496631732
NM_000019.4(ACAT1):c.826+16T>C rs1439192058
NM_000019.4(ACAT1):c.826+19A>C rs2496631757
NM_000019.4(ACAT1):c.826+20G>A rs2496631766
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 rs754619277
NM_000019.4(ACAT1):c.826+5G>T rs1591370366
NM_000019.4(ACAT1):c.826+7G>A rs2496631683
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 rs1425761924
NM_000019.4(ACAT1):c.827-16T>C rs1425761924
NM_000019.4(ACAT1):c.827-16_827-15del rs767091022
NM_000019.4(ACAT1):c.827-18C>A rs2496635852
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) rs2496636048
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.846dup (p.Ala283fs) rs2134772571
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn) rs1591371045
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.855A>C (p.Thr285=) rs2496636212
NM_000019.4(ACAT1):c.855A>G (p.Thr285=) rs2496636212
NM_000019.4(ACAT1):c.858G>C (p.Leu286=)
NM_000019.4(ACAT1):c.867A>T (p.Gly289=) rs201725995
NM_000019.4(ACAT1):c.869dup (p.Ala291fs) rs2496636315
NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs) rs1591360348
NM_000019.4(ACAT1):c.876T>C (p.Ala292=) rs2077609367
NM_000019.4(ACAT1):c.879G>A (p.Leu293=) rs2496636346
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu) rs368802454
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=) rs2496636584
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.925C>T (p.Leu309=)
NM_000019.4(ACAT1):c.930A>G (p.Ala310=) rs2496636745
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val) rs766323857
NM_000019.4(ACAT1):c.936A>T (p.Ile312=) rs2496636781
NM_000019.4(ACAT1):c.93G>A (p.Arg31=) rs2135326276
NM_000019.4(ACAT1):c.940+12C>A rs767415362
NM_000019.4(ACAT1):c.940+12C>G rs767415362
NM_000019.4(ACAT1):c.940+14_940+18del rs2496636908
NM_000019.4(ACAT1):c.940+15G>A rs2077611790
NM_000019.4(ACAT1):c.940+15_940+25del rs2496636925
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 rs771238801
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 rs994507837
NM_000019.4(ACAT1):c.940G>C (p.Ala314Pro)
NM_000019.4(ACAT1):c.941-13T>C rs760991373
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.941-15C>A rs759374737
NM_000019.4(ACAT1):c.941-15C>T rs759374737
NM_000019.4(ACAT1):c.941-16C>A rs770980645
NM_000019.4(ACAT1):c.941-16C>G rs770980645
NM_000019.4(ACAT1):c.941-16C>T rs770980645
NM_000019.4(ACAT1):c.941-17C>A rs772808876
NM_000019.4(ACAT1):c.941-17C>G rs772808876
NM_000019.4(ACAT1):c.941-18C>T rs1254901206
NM_000019.4(ACAT1):c.941-18_941-17insG rs753721748
NM_000019.4(ACAT1):c.941-20C>A rs780676390
NM_000019.4(ACAT1):c.941-7del rs376661693
NM_000019.4(ACAT1):c.941-8T>C
NM_000019.4(ACAT1):c.941-9T>A rs980651269
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) rs1591372596
NM_000019.4(ACAT1):c.952_983dup (p.Ala328_Pro329insLeuLeuTer)
NM_000019.4(ACAT1):c.960A>G (p.Val320=) rs2496646845
NM_000019.4(ACAT1):c.962_963del (p.Glu321fs) rs2496646864
NM_000019.4(ACAT1):c.972T>C (p.Asp324=) rs2496646925
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000019.4(ACAT1):c.987T>C (p.Pro329=) rs2496647085
NM_000019.4(ACAT1):c.996T>C (p.Ala332=) rs2134780546
NM_000019.4(ACAT1):c.99T>C (p.Tyr33=) rs1469248513
NM_000019.4(ACAT1):c.9G>A (p.Val3=) rs1254889695
NM_001386678.1(ACAT1):c.120+2267_120+2268del rs749376259

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.