ClinVar Miner

List of variants reported as uncertain significance for Very long chain acyl-CoA dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 657
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.3(ACADVL):c.-64T>C rs77051465 0.00545
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.-36A>G rs372592554 0.00243
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_000018.4(ACADVL):c.*53C>T rs535274747 0.00148
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_000018.4(ACADVL):c.878+33T>G rs145589195 0.00139
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000018.4(ACADVL):c.780G>A (p.Thr260=) rs140871321 0.00108
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val) rs730880036 0.00071
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=) rs35501596 0.00061
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467 0.00058
NM_000018.4(ACADVL):c.63-35G>A rs774905326 0.00053
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=) rs149436747 0.00035
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys) rs139427392 0.00035
NM_000018.4(ACADVL):c.587C>T (p.Ala196Val) rs201370388 0.00034
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000018.4(ACADVL):c.1751+18G>A rs528002997 0.00024
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr) rs367705640 0.00021
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=) rs778531268 0.00014
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala) rs377044444 0.00012
NM_000018.4(ACADVL):c.*8C>T rs370513576 0.00011
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658 0.00011
NM_000018.4(ACADVL):c.622+12C>A rs374633807 0.00011
NM_000018.4(ACADVL):c.1269+25G>A rs373157378 0.00010
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln) rs753624994 0.00009
NM_000018.4(ACADVL):c.114G>C (p.Arg38=) rs777380964 0.00009
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln) rs201350598 0.00009
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) rs375806217 0.00009
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile) rs201462718 0.00009
NM_000018.4(ACADVL):c.276C>T (p.Ser92=) rs530278910 0.00009
NM_000018.4(ACADVL):c.1182+17C>A rs191276923 0.00008
NM_000018.4(ACADVL):c.205-7T>C rs760625298 0.00007
NM_000018.4(ACADVL):c.205-8C>G rs774353448 0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu) rs199763196 0.00006
NM_000018.4(ACADVL):c.62+18G>A rs780776419 0.00006
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln) rs777955007 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000018.4(ACADVL):c.1077+16G>A rs780420241 0.00005
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp) rs536992268 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.138G>A (p.Gln46=) rs775956800 0.00004
NM_000018.4(ACADVL):c.139-20C>T rs374535729 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1592G>A (p.Arg531Gln) rs772763960 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000018.4(ACADVL):c.1849G>A (p.Gly617Ser) rs752227163 0.00004
NM_000018.4(ACADVL):c.342+15G>A rs777751102 0.00004
NM_000018.4(ACADVL):c.352G>A (p.Asp118Asn) rs543878973 0.00004
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) rs778514103 0.00004
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1197G>C (p.Met399Ile) rs767552054 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser) rs118204018 0.00003
NM_000018.4(ACADVL):c.1605+7G>A rs572010910 0.00003
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg) rs398123085 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr) rs965557488 0.00003
NM_000018.4(ACADVL):c.1931G>A (p.Arg644Gln) rs774762384 0.00003
NM_000018.4(ACADVL):c.277+6G>T rs776422793 0.00003
NM_000018.4(ACADVL):c.278T>C (p.Val93Ala) rs886053373 0.00003
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu) rs750675692 0.00003
NM_000018.4(ACADVL):c.343-14T>C rs200368309 0.00003
NM_000018.4(ACADVL):c.343G>C (p.Glu115Gln) rs370146676 0.00003
NM_000018.4(ACADVL):c.467G>C (p.Cys156Ser) rs139973845 0.00003
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala) rs372684079 0.00003
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr) rs727503792 0.00003
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG rs1555527381 0.00002
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu) rs1356652354 0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln) rs772014118 0.00002
NM_000018.4(ACADVL):c.1177A>G (p.Thr393Ala) rs199840831 0.00002
NM_000018.4(ACADVL):c.1236G>C (p.Gln412His) rs745355288 0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111 0.00002
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247 0.00002
NM_000018.4(ACADVL):c.1555C>G (p.Leu519Val) rs781063725 0.00002
NM_000018.4(ACADVL):c.1915A>C (p.Lys639Gln) rs771122302 0.00002
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys) rs557260142 0.00002
NM_000018.4(ACADVL):c.457G>T (p.Val153Leu) rs894284973 0.00002
NM_000018.4(ACADVL):c.477+8C>T rs1437698813 0.00002
NM_000018.4(ACADVL):c.478-44C>T rs754668930 0.00002
NM_000018.4(ACADVL):c.485G>A (p.Arg162His) rs754756970 0.00002
NM_000018.4(ACADVL):c.499G>A (p.Val167Met) rs199991742 0.00002
NM_000018.4(ACADVL):c.519C>T (p.Gly173=) rs757830946 0.00002
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523 0.00002
NM_000018.4(ACADVL):c.858G>A (p.Arg286=) rs531514327 0.00002
NM_000018.4(ACADVL):c.940G>A (p.Gly314Arg) rs775669454 0.00002
NM_000018.4(ACADVL):c.957G>A (p.Ser319=) rs143870522 0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000018.4(ACADVL):c.*32T>G rs886053376 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.100G>A (p.Gly34Ser) rs781061205 0.00001
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser) rs956279629 0.00001
NM_000018.4(ACADVL):c.1037C>T (p.Ala346Val) rs1303150138 0.00001
NM_000018.4(ACADVL):c.1040C>T (p.Ala347Val) rs2071295317 0.00001
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr) rs1567565733 0.00001
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn) rs796051911 0.00001
NM_000018.4(ACADVL):c.1063A>G (p.Ile355Val) rs2071297089 0.00001
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) rs1351976589 0.00001
NM_000018.4(ACADVL):c.1067T>C (p.Ile356Thr) rs2071297392 0.00001
NM_000018.4(ACADVL):c.1079T>C (p.Val360Ala) rs1284063777 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1133T>C (p.Leu378Pro) rs2071314177 0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504 0.00001
NM_000018.4(ACADVL):c.1159G>A (p.Val387Ile) rs1422904205 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro) rs1384021857 0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=) rs765356942 0.00001
NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr) rs573810960 0.00001
NM_000018.4(ACADVL):c.1333-13G>A rs774376862 0.00001
NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln) rs398123081 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.134C>T (p.Ala45Val) rs2071124062 0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val) rs755685700 0.00001
NM_000018.4(ACADVL):c.1524G>C (p.Gln508His) rs749332311 0.00001
NM_000018.4(ACADVL):c.1533-3C>A rs1486836969 0.00001
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp) rs371316167 0.00001
NM_000018.4(ACADVL):c.1535G>A (p.Arg512Gln) rs1363658463 0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg) rs370282954 0.00001
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser) rs374507980 0.00001
NM_000018.4(ACADVL):c.1575C>A (p.Val525=) rs745996278 0.00001
NM_000018.4(ACADVL):c.1595G>A (p.Ser532Asn) rs1453818885 0.00001
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=) rs779770406 0.00001
NM_000018.4(ACADVL):c.1605+3A>G rs759274087 0.00001
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp) rs192904909 0.00001
NM_000018.4(ACADVL):c.1621G>A (p.Glu541Lys) rs1350421513 0.00001
NM_000018.4(ACADVL):c.1664A>G (p.Lys555Arg) rs1231882461 0.00001
NM_000018.4(ACADVL):c.1670G>A (p.Gly557Glu) rs773842959 0.00001
NM_000018.4(ACADVL):c.1678+4A>T rs1057518417 0.00001
NM_000018.4(ACADVL):c.1684C>G (p.Gln562Glu) rs370292684 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.179T>G (p.Leu60Arg) rs1405660468 0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088 0.00001
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr) rs200117742 0.00001
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys) rs398123086 0.00001
NM_000018.4(ACADVL):c.1827+10G>A rs766755156 0.00001
NM_000018.4(ACADVL):c.1829C>T (p.Ala610Val) rs1179668719 0.00001
NM_000018.4(ACADVL):c.1913C>T (p.Ser638Phe) rs1210477732 0.00001
NM_000018.4(ACADVL):c.1929G>C (p.Glu643Asp) rs1208010882 0.00001
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr) rs377659973 0.00001
NM_000018.4(ACADVL):c.201G>A (p.Lys67=) rs753577095 0.00001
NM_000018.4(ACADVL):c.204+4G>C rs764767909 0.00001
NM_000018.4(ACADVL):c.216C>T (p.Ser72=) rs761492981 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.278-8C>T rs1178133251 0.00001
NM_000018.4(ACADVL):c.301T>C (p.Phe101Leu) rs759197049 0.00001
NM_000018.4(ACADVL):c.322C>G (p.Pro108Ala) rs886043235 0.00001
NM_000018.4(ACADVL):c.331C>T (p.Arg111Cys) rs370929055 0.00001
NM_000018.4(ACADVL):c.332G>A (p.Arg111His) rs958166043 0.00001
NM_000018.4(ACADVL):c.342+18G>A rs372594520 0.00001
NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp) rs769290349 0.00001
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro) rs1416443472 0.00001
NM_000018.4(ACADVL):c.381G>A (p.Met127Ile) rs773608087 0.00001
NM_000018.4(ACADVL):c.385G>A (p.Glu129Lys) rs1402849815 0.00001
NM_000018.4(ACADVL):c.427G>T (p.Gly143Cys) rs794727773 0.00001
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp) rs1458941582 0.00001
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg) rs746688190 0.00001
NM_000018.4(ACADVL):c.484C>T (p.Arg162Cys) rs751423064 0.00001
NM_000018.4(ACADVL):c.490G>C (p.Val164Leu) rs1240846419 0.00001
NM_000018.4(ACADVL):c.505A>G (p.Met169Val) rs2071227343 0.00001
NM_000018.4(ACADVL):c.51C>T (p.Leu17=) rs376733533 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.613C>G (p.Leu205Val) rs747347662 0.00001
NM_000018.4(ACADVL):c.62+20G>A rs369163211 0.00001
NM_000018.4(ACADVL):c.62+5G>A rs1299140180 0.00001
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg) rs748329498 0.00001
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro) rs775400380 0.00001
NM_000018.4(ACADVL):c.63-18A>G rs1481782237 0.00001
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly) rs767063791 0.00001
NM_000018.4(ACADVL):c.707C>T (p.Pro236Leu) rs1336637427 0.00001
NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu) rs776331587 0.00001
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile) rs769631635 0.00001
NM_000018.4(ACADVL):c.728T>A (p.Leu243His) rs772999007 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.752+5C>T rs768041919 0.00001
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala) rs756069599 0.00001
NM_000018.4(ACADVL):c.823G>A (p.Val275Met) rs761199646 0.00001
NM_000018.4(ACADVL):c.829G>A (p.Glu277Lys) rs1208459885 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.862T>A (p.Phe288Ile) rs1209359519 0.00001
NM_000018.4(ACADVL):c.867G>T (p.Gly289=) rs745557512 0.00001
NM_000018.4(ACADVL):c.878+29G>C rs201502622 0.00001
NM_000018.4(ACADVL):c.879-16C>A rs780626099 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg) rs142765230 0.00001
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu) rs369149696 0.00001
NM_000018.4(ACADVL):c.91C>T (p.Pro31Ser) rs1487946294 0.00001
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) rs398123095 0.00001
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln) rs754806489 0.00001
NM_000018.4(ACADVL):c.964G>A (p.Val322Met) rs1257648581 0.00001
NM_000018.4(ACADVL):c.969G>A (p.Leu323=) rs749734276 0.00001
NM_000018.4(ACADVL):c.994G>A (p.Val332Ile) rs775761275 0.00001
NC_000017.10:g.(?_6328780)_(7606804_?)dup
NM_000018.3(ACADVL):c.-132C>T rs886053371
NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC rs6145976
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC rs753389263
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT rs1555527399
NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG rs1555527393
NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA rs1555527401
NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG rs1555527385
NM_000018.4(ACADVL):c.*116C>G rs2071420563
NM_000018.4(ACADVL):c.*8del rs398123078
NM_000018.4(ACADVL):c.1004A>G (p.His335Arg) rs2142980423
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn) rs1431769044
NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe) rs1567565656
NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del) rs1315330884
NM_000018.4(ACADVL):c.1015A>T (p.Asn339Tyr) rs2071293900
NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu) rs934797393
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr) rs1064793382
NM_000018.4(ACADVL):c.1031T>G (p.Met344Arg) rs2142980587
NM_000018.4(ACADVL):c.1037C>A (p.Ala346Glu)
NM_000018.4(ACADVL):c.1037C>G (p.Ala346Gly)
NM_000018.4(ACADVL):c.1043T>C (p.Leu348Pro)
NM_000018.4(ACADVL):c.1045G>C (p.Ala349Pro) rs1567565733
NM_000018.4(ACADVL):c.1048G>A (p.Gly350Ser) rs767138639
NM_000018.4(ACADVL):c.1049G>A (p.Gly350Asp)
NM_000018.4(ACADVL):c.1049G>C (p.Gly350Ala) rs1343647718
NM_000018.4(ACADVL):c.1052C>T (p.Thr351Ile) rs796051911
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
NM_000018.4(ACADVL):c.1055T>G (p.Met352Arg) rs2071296504
NM_000018.4(ACADVL):c.1058G>A (p.Arg353Lys)
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1063_1064delinsGG (p.Ile355Gly)
NM_000018.4(ACADVL):c.1064T>G (p.Ile355Ser) rs1351976589
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
NM_000018.4(ACADVL):c.1077+3_1077+6del rs2071298305
NM_000018.4(ACADVL):c.1077+5G>A
NM_000018.4(ACADVL):c.1078-5T>G rs1266629718
NM_000018.4(ACADVL):c.107C>T (p.Ala36Val) rs1165915680
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000018.4(ACADVL):c.1082A>G (p.Asp361Gly) rs1214845060
NM_000018.4(ACADVL):c.1093A>G (p.Asn365Asp) rs988045058
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1103A>T (p.Gln368Leu) rs776063244
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser) rs398123080
NM_000018.4(ACADVL):c.110G>A (p.Arg37Gln)
NM_000018.4(ACADVL):c.1111G>A (p.Glu371Lys)
NM_000018.4(ACADVL):c.1128T>G (p.Phe376Leu)
NM_000018.4(ACADVL):c.1141G>A (p.Glu381Lys) rs1212266005
NM_000018.4(ACADVL):c.1147C>A (p.Leu383Met)
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val) rs756194870
NM_000018.4(ACADVL):c.1158G>A (p.Met386Ile) rs2142982416
NM_000018.4(ACADVL):c.1159G>C (p.Val387Leu) rs1422904205
NM_000018.4(ACADVL):c.1162A>T (p.Met388Leu)
NM_000018.4(ACADVL):c.1170G>C (p.Gln390His) rs775196157
NM_000018.4(ACADVL):c.1174G>A (p.Val392Ile)
NM_000018.4(ACADVL):c.1182+2dup rs1597532215
NM_000018.4(ACADVL):c.1182+3G>A rs376281637
NM_000018.4(ACADVL):c.1182+5G>A
NM_000018.4(ACADVL):c.1183-2dup rs1555528721
NM_000018.4(ACADVL):c.1183-7A>G rs750441118
NM_000018.4(ACADVL):c.1185C>G (p.Ser395=)
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val) rs2071337130
NM_000018.4(ACADVL):c.1192_1206dup (p.Tyr398_Ala402dup) rs2142984192
NM_000018.4(ACADVL):c.119A>G (p.Tyr40Cys)
NM_000018.4(ACADVL):c.11C>A (p.Ala4Asp) rs1019684161
NM_000018.4(ACADVL):c.1205C>A (p.Ala402Asp) rs727503793
NM_000018.4(ACADVL):c.1205C>T (p.Ala402Val) rs727503793
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=) rs2071338251
NM_000018.4(ACADVL):c.1222G>A (p.Ala408Thr) rs2071338597
NM_000018.4(ACADVL):c.1233C>G (p.Phe411Leu)
NM_000018.4(ACADVL):c.1240G>A (p.Glu414Lys)
NM_000018.4(ACADVL):c.1250T>G (p.Ile417Ser) rs2071340219
NM_000018.4(ACADVL):c.1251C>T (p.Ile417=)
NM_000018.4(ACADVL):c.1254C>G (p.Ser418Arg) rs2071340371
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu) rs1451455641
NM_000018.4(ACADVL):c.1269+13dup rs2071341157
NM_000018.4(ACADVL):c.1269+1del rs2071340733
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr) rs1419478766
NM_000018.4(ACADVL):c.127G>A (p.Gly43Ser)
NM_000018.4(ACADVL):c.1281G>C (p.Trp427Cys) rs1567567312
NM_000018.4(ACADVL):c.1291G>C (p.Asp431His) rs781658827
NM_000018.4(ACADVL):c.1297T>C (p.Cys433Arg) rs886053374
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val) rs2071345754
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser) rs2071346777
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala) rs2309689
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1329G>A (p.Met443Ile) rs2071347136
NM_000018.4(ACADVL):c.1332+2T>A
NM_000018.4(ACADVL):c.1332+5A>G
NM_000018.4(ACADVL):c.1333-3T>G rs1057523216
NM_000018.4(ACADVL):c.1340G>A (p.Gly447Glu) rs1555528779
NM_000018.4(ACADVL):c.1342G>A (p.Val448Ile) rs2071353533
NM_000018.4(ACADVL):c.1342G>C (p.Val448Leu)
NM_000018.4(ACADVL):c.1346A>G (p.Glu449Gly) rs765346654
NM_000018.4(ACADVL):c.1358G>C (p.Arg453Pro) rs138058572
NM_000018.4(ACADVL):c.1360G>C (p.Asp454His) rs1419606204
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1370T>C (p.Ile457Thr) rs1392710608
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro) rs751995154
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.138+5G>A rs2071124642
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser) rs755432945
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys) rs2071355499
NM_000018.4(ACADVL):c.1387G>C (p.Gly463Arg) rs2071355667
NM_000018.4(ACADVL):c.139-3C>T rs1555527630
NM_000018.4(ACADVL):c.1391C>G (p.Thr464Arg) rs1555528796
NM_000018.4(ACADVL):c.1391C>T (p.Thr464Ile) rs1555528796
NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly) rs747672165
NM_000018.4(ACADVL):c.1400T>A (p.Ile467Asn) rs2142986109
NM_000018.4(ACADVL):c.1411T>C (p.Phe471Leu)
NM_000018.4(ACADVL):c.1427G>A (p.Gly476Asp) rs2071357482
NM_000018.4(ACADVL):c.1429T>C (p.Cys477Arg) rs2071357577
NM_000018.4(ACADVL):c.142G>A (p.Ala48Thr)
NM_000018.4(ACADVL):c.1430G>A (p.Cys477Tyr) rs1555528803
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1434+14T>C rs202217537
NM_000018.4(ACADVL):c.1435-3T>A
NM_000018.4(ACADVL):c.1435G>A (p.Asp479Asn) rs2071362937
NM_000018.4(ACADVL):c.143C>T (p.Ala48Val) rs2142963990
NM_000018.4(ACADVL):c.1445A>G (p.Lys482Arg) rs2142986762
NM_000018.4(ACADVL):c.1457G>T (p.Gly486Val)
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg) rs771117714
NM_000018.4(ACADVL):c.1486G>A (p.Gly496Arg)
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala) rs764943140
NM_000018.4(ACADVL):c.1496G>T (p.Gly499Val) rs764943140
NM_000018.4(ACADVL):c.1508G>C (p.Gly503Ala) rs2142987050
NM_000018.4(ACADVL):c.1510G>A (p.Glu504Lys)
NM_000018.4(ACADVL):c.1510G>C (p.Glu504Gln) rs376795010
NM_000018.4(ACADVL):c.1532+6C>T rs2071368248
NM_000018.4(ACADVL):c.1532G>C (p.Arg511Pro) rs200771970
NM_000018.4(ACADVL):c.1533G>A (p.Arg511=) rs886038214
NM_000018.4(ACADVL):c.1538C>A (p.Ala513Glu) rs766003820
NM_000018.4(ACADVL):c.1538C>G (p.Ala513Gly) rs766003820
NM_000018.4(ACADVL):c.1552G>C (p.Gly518Arg)
NM_000018.4(ACADVL):c.1578C>T (p.His526=) rs376504514
NM_000018.4(ACADVL):c.1580C>T (p.Pro527Leu)
NM_000018.4(ACADVL):c.1605+5_1605+6inv
NM_000018.4(ACADVL):c.1605+6_1605+7delinsCC rs1064795676
NM_000018.4(ACADVL):c.1605+6_1605+7inv
NM_000018.4(ACADVL):c.1606-10A>C rs2071381723
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1616C>T (p.Ala539Val)
NM_000018.4(ACADVL):c.1617T>C (p.Ala539=) rs1555528948
NM_000018.4(ACADVL):c.161C>T (p.Ser54Phe)
NM_000018.4(ACADVL):c.1630G>A (p.Ala544Thr)
NM_000018.4(ACADVL):c.1643A>T (p.Glu548Val) rs2071384243
NM_000018.4(ACADVL):c.1657A>C (p.Lys553Gln) rs1555528957
NM_000018.4(ACADVL):c.1663AAG[1] (p.Lys556del) rs866424446
NM_000018.4(ACADVL):c.1673T>C (p.Ile558Thr) rs1256129137
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1679-40T>G
NM_000018.4(ACADVL):c.1679-5del rs1555528999
NM_000018.4(ACADVL):c.167C>A (p.Pro56His) rs2142964131
NM_000018.4(ACADVL):c.1698G>A (p.Gln566=)
NM_000018.4(ACADVL):c.1699C>T (p.Arg567Trp) rs864321651
NM_000018.4(ACADVL):c.1701_1702delinsAG (p.Leu568Val) rs2142989836
NM_000018.4(ACADVL):c.1708G>T (p.Asp570Tyr) rs2071394443
NM_000018.4(ACADVL):c.1710C>A (p.Asp570Glu) rs759638134
NM_000018.4(ACADVL):c.1719C>G (p.Ile573Met)
NM_000018.4(ACADVL):c.1720G>A (p.Asp574Asn)
NM_000018.4(ACADVL):c.1732A>G (p.Met578Val)
NM_000018.4(ACADVL):c.1744C>T (p.Leu582Phe) rs1466587776
NM_000018.4(ACADVL):c.1745T>C (p.Leu582Pro) rs2142990030
NM_000018.4(ACADVL):c.1751+14C>T
NM_000018.4(ACADVL):c.1751G>A (p.Arg584Lys)
NM_000018.4(ACADVL):c.1751G>C (p.Arg584Thr) rs754123613
NM_000018.4(ACADVL):c.1754C>A (p.Ala585Asp) rs374729641
NM_000018.4(ACADVL):c.1760G>A (p.Arg587Lys)
NM_000018.4(ACADVL):c.1762T>C (p.Ser588Pro) rs780655964
NM_000018.4(ACADVL):c.1763C>T (p.Ser588Phe) rs2071402000
NM_000018.4(ACADVL):c.1766T>C (p.Leu589Pro) rs1567569494
NM_000018.4(ACADVL):c.1769G>A (p.Ser590Asn)
NM_000018.4(ACADVL):c.1769G>T (p.Ser590Ile)
NM_000018.4(ACADVL):c.1777C>T (p.His593Tyr)
NM_000018.4(ACADVL):c.1784C>G (p.Thr595Arg)
NM_000018.4(ACADVL):c.1784C>T (p.Thr595Met)
NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)
NM_000018.4(ACADVL):c.1800A>T (p.Lys600Asn) rs2071403522
NM_000018.4(ACADVL):c.1801A>G (p.Met601Val)
NM_000018.4(ACADVL):c.1801del (p.Met601fs)
NM_000018.4(ACADVL):c.1807T>C (p.Cys603Arg) rs2071403861
NM_000018.4(ACADVL):c.1808del (p.Cys603fs) rs2142990894
NM_000018.4(ACADVL):c.180G>C (p.Leu60=) rs886053372
NM_000018.4(ACADVL):c.1813A>C (p.Thr605Pro) rs2071404097
NM_000018.4(ACADVL):c.1814C>G (p.Thr605Ser)
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter) rs2071404265
NM_000018.4(ACADVL):c.1825G>C (p.Glu609Gln) rs398123086
NM_000018.4(ACADVL):c.1826A>C (p.Glu609Ala) rs908625615
NM_000018.4(ACADVL):c.1832C>T (p.Ala611Val) rs2071408325
NM_000018.4(ACADVL):c.1835C>G (p.Ala612Gly) rs374898424
NM_000018.4(ACADVL):c.1835C>T (p.Ala612Val)
NM_000018.4(ACADVL):c.1842C>G (p.Ile614Met)
NM_000018.4(ACADVL):c.1848G>C (p.Glu616Asp) rs372886650
NM_000018.4(ACADVL):c.1855G>A (p.Ala619Thr)
NM_000018.4(ACADVL):c.1864C>T (p.Gln622Ter) rs1555529172
NM_000018.4(ACADVL):c.1865A>G (p.Gln622Arg)
NM_000018.4(ACADVL):c.1870G>C (p.Asp624His) rs1597541044
NM_000018.4(ACADVL):c.1873C>A (p.Pro625Thr)
NM_000018.4(ACADVL):c.1873C>T (p.Pro625Ser) rs377044444
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=) rs931018661
NM_000018.4(ACADVL):c.1881G>C (p.Gln627His) rs931018661
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.188A>G (p.Lys63Arg)
NM_000018.4(ACADVL):c.1895G>A (p.Arg632His)
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs) rs2071412513
NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)
NM_000018.4(ACADVL):c.1901T>G (p.Phe634Cys) rs2071412683
NM_000018.4(ACADVL):c.1922T>C (p.Leu641Ser) rs2071413884
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe) rs1452402269
NM_000018.4(ACADVL):c.1930C>T (p.Arg644Trp)
NM_000018.4(ACADVL):c.1931G>C (p.Arg644Pro) rs774762384
NM_000018.4(ACADVL):c.1932G>A (p.Arg644=) rs886053375
NM_000018.4(ACADVL):c.1937G>T (p.Gly646Val) rs768878569
NM_000018.4(ACADVL):c.193C>T (p.Pro65Ser)
NM_000018.4(ACADVL):c.1953C>A (p.Asn651Lys) rs1417091241
NM_000018.4(ACADVL):c.1955C>T (p.Pro652Leu)
NM_000018.4(ACADVL):c.1958T>C (p.Leu653Pro)
NM_000018.4(ACADVL):c.1962C>T (p.Gly654=)
NM_000018.4(ACADVL):c.1964T>C (p.Phe655Ser) rs377659973
NM_000018.4(ACADVL):c.1966T>A (p.Ter656Arg)
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser) rs2071416769
NM_000018.4(ACADVL):c.1968A>C (p.Ter656Cys)
NM_000018.4(ACADVL):c.196G>A (p.Ala66Thr) rs142745084
NM_000018.4(ACADVL):c.197C>G (p.Ala66Gly) rs2071149098
NM_000018.4(ACADVL):c.204+5G>A rs958328801
NM_000018.4(ACADVL):c.204G>A (p.Ala68=) rs756969179
NM_000018.4(ACADVL):c.205-34A>G rs770101303
NM_000018.4(ACADVL):c.205-5C>G rs768537914
NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp) rs2142959240
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.218T>C (p.Phe73Ser) rs2071156261
NM_000018.4(ACADVL):c.221C>T (p.Ala74Val) rs1470149388
NM_000018.4(ACADVL):c.230T>C (p.Met77Thr) rs1555527718
NM_000018.4(ACADVL):c.233T>A (p.Phe78Tyr)
NM_000018.4(ACADVL):c.234C>G (p.Phe78Leu) rs2142965570
NM_000018.4(ACADVL):c.236A>G (p.Lys79Arg) rs2071157517
NM_000018.4(ACADVL):c.244C>A (p.Leu82Ile)
NM_000018.4(ACADVL):c.247A>G (p.Thr83Ala) rs1339560413
NM_000018.4(ACADVL):c.250A>G (p.Thr84Ala)
NM_000018.4(ACADVL):c.257A>G (p.Gln86Arg)
NM_000018.4(ACADVL):c.259G>A (p.Val87Met) rs2142965839
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala) rs796051907
NM_000018.4(ACADVL):c.260T>G (p.Val87Gly) rs796051907
NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)
NM_000018.4(ACADVL):c.271C>T (p.Pro91Ser) rs398123087
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln) rs2071160066
NM_000018.4(ACADVL):c.272C>T (p.Pro91Leu)
NM_000018.4(ACADVL):c.277+5G>A rs2071160721
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
NM_000018.4(ACADVL):c.277G>C (p.Val93Leu)
NM_000018.4(ACADVL):c.277G>T (p.Val93Leu) rs768632138
NM_000018.4(ACADVL):c.285C>A (p.Asn95Lys)
NM_000018.4(ACADVL):c.289G>A (p.Glu97Lys)
NM_000018.4(ACADVL):c.294G>C (p.Gln98His) rs794727695
NM_000018.4(ACADVL):c.299A>G (p.Gln100Arg) rs774141572
NM_000018.4(ACADVL):c.300G>C (p.Gln100His) rs1268173973
NM_000018.4(ACADVL):c.325G>A (p.Val109Met) rs754207297
NM_000018.4(ACADVL):c.329C>A (p.Ser110Tyr) rs757608507
NM_000018.4(ACADVL):c.329C>T (p.Ser110Phe) rs757608507
NM_000018.4(ACADVL):c.331_339del (p.Arg111_Phe113del) rs1555527820
NM_000018.4(ACADVL):c.338T>C (p.Phe113Ser) rs2071172343
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu) rs750653177
NM_000018.4(ACADVL):c.342+4A>C
NM_000018.4(ACADVL):c.346G>A (p.Val116Met)
NM_000018.4(ACADVL):c.351C>G (p.Asn117Lys) rs779745734
NM_000018.4(ACADVL):c.353_358del (p.Asp118_Pro119del) rs2071181405
NM_000018.4(ACADVL):c.358_360del (p.Ala120del) rs761449573
NM_000018.4(ACADVL):c.367G>A (p.Asp123Asn) rs1347143307
NM_000018.4(ACADVL):c.367G>T (p.Asp123Tyr) rs1347143307
NM_000018.4(ACADVL):c.368A>G (p.Asp123Gly) rs1131691301
NM_000018.4(ACADVL):c.369C>A (p.Asp123Glu) rs374524648
NM_000018.4(ACADVL):c.370G>A (p.Ala124Thr) rs560912181
NM_000018.4(ACADVL):c.370G>T (p.Ala124Ser) rs560912181
NM_000018.4(ACADVL):c.378G>T (p.Glu126Asp) rs2071183181
NM_000018.4(ACADVL):c.390G>C (p.Glu130Asp)
NM_000018.4(ACADVL):c.398G>C (p.Trp133Ser)
NM_000018.4(ACADVL):c.403G>T (p.Gly135Cys)
NM_000018.4(ACADVL):c.404_412del (p.Gly135_Lys137del) rs2071184523
NM_000018.4(ACADVL):c.406C>G (p.Leu136Val) rs1460246415
NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.428G>C (p.Gly143Ala) rs1458941582
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
NM_000018.4(ACADVL):c.434A>C (p.Gln145Pro)
NM_000018.4(ACADVL):c.435A>G (p.Gln145=)
NM_000018.4(ACADVL):c.436G>A (p.Val146Met) rs398123089
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser) rs1032857886
NM_000018.4(ACADVL):c.442A>T (p.Ser148Cys) rs892944229
NM_000018.4(ACADVL):c.443G>C (p.Ser148Thr)
NM_000018.4(ACADVL):c.455G>T (p.Gly152Val)
NM_000018.4(ACADVL):c.461G>A (p.Gly154Asp)
NM_000018.4(ACADVL):c.461G>C (p.Gly154Ala) rs2071188406
NM_000018.4(ACADVL):c.466T>C (p.Cys156Arg) rs2071188725
NM_000018.4(ACADVL):c.475C>G (p.Gln159Glu) rs779650201
NM_000018.4(ACADVL):c.477+17G>A rs375076326
NM_000018.4(ACADVL):c.477+50A>T rs150033153
NM_000018.4(ACADVL):c.477G>C (p.Gln159His) rs2071189324
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val) rs796051908
NM_000018.4(ACADVL):c.491T>C (p.Val164Ala) rs2071225938
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly) rs2071225938
NM_000018.4(ACADVL):c.493G>A (p.Glu165Lys) rs2071226145
NM_000018.4(ACADVL):c.494A>T (p.Glu165Val)
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp) rs370169077
NM_000018.4(ACADVL):c.503G>A (p.Gly168Asp) rs2071227236
NM_000018.4(ACADVL):c.503G>C (p.Gly168Ala)
NM_000018.4(ACADVL):c.506T>C (p.Met169Thr) rs1382262076
NM_000018.4(ACADVL):c.506T>G (p.Met169Arg) rs1382262076
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.509A>G (p.His170Arg)
NM_000018.4(ACADVL):c.517G>C (p.Gly173Arg) rs2071227774
NM_000018.4(ACADVL):c.526A>C (p.Ile176Leu) rs1300720825
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) rs1131691808
NM_000018.4(ACADVL):c.535G>A (p.Gly179Arg) rs796051909
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp) rs796051909
NM_000018.4(ACADVL):c.542A>G (p.His181Arg) rs1425862331
NM_000018.4(ACADVL):c.545A>C (p.Gln182Pro) rs2071230096
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser) rs2071231356
NM_000018.4(ACADVL):c.563G>A (p.Gly188Asp) rs2071231444
NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)
NM_000018.4(ACADVL):c.575T>C (p.Phe192Ser) rs1555528189
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.4(ACADVL):c.57C>G (p.Gly19=)
NM_000018.4(ACADVL):c.586G>C (p.Ala196Pro)
NM_000018.4(ACADVL):c.591G>C (p.Gln197His) rs2071233301
NM_000018.4(ACADVL):c.592A>G (p.Lys198Glu) rs2071233392
NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)
NM_000018.4(ACADVL):c.605T>A (p.Leu202His) rs398123090
NM_000018.4(ACADVL):c.608C>T (p.Pro203Leu)
NM_000018.4(ACADVL):c.612G>C (p.Lys204Asn)
NM_000018.4(ACADVL):c.614T>C (p.Leu205Pro) rs1597525633
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.62+6T>C rs1555527495
NM_000018.4(ACADVL):c.623-35C>A rs1303764728
NM_000018.4(ACADVL):c.623-4A>G rs977348928
NM_000018.4(ACADVL):c.623G>A (p.Gly208Glu) rs2071251302
NM_000018.4(ACADVL):c.625G>C (p.Glu209Gln) rs772055899
NM_000018.4(ACADVL):c.632T>C (p.Val211Ala)
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val) rs2071252145
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.644G>A (p.Cys215Tyr)
NM_000018.4(ACADVL):c.644G>C (p.Cys215Ser)
NM_000018.4(ACADVL):c.644G>T (p.Cys215Phe)
NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro)
NM_000018.4(ACADVL):c.650C>T (p.Thr217Ile) rs2071252808
NM_000018.4(ACADVL):c.651C>A (p.Thr217=)
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp) rs727503788
NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu)
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.4(ACADVL):c.682A>G (p.Ile228Val) rs2071254536
NM_000018.4(ACADVL):c.682A>T (p.Ile228Phe) rs2071254536
NM_000018.4(ACADVL):c.685C>G (p.Arg229Gly) rs786204536
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile) rs1241935771
NM_000018.4(ACADVL):c.68G>T (p.Arg23Leu) rs34153370
NM_000018.4(ACADVL):c.697G>A (p.Val233Met)
NM_000018.4(ACADVL):c.705C>A (p.Ser235Arg) rs2071256120
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys) rs575789958
NM_000018.4(ACADVL):c.734G>A (p.Gly245Glu) rs762631117
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly) rs1555528320
NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln) rs387906253
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu) rs387906253
NM_000018.4(ACADVL):c.747G>C (p.Trp249Cys) rs141167669
NM_000018.4(ACADVL):c.748A>G (p.Ile250Val)
NM_000018.4(ACADVL):c.752+6C>G
NM_000018.4(ACADVL):c.752+6C>T
NM_000018.4(ACADVL):c.753-27C>T rs374911841
NM_000018.4(ACADVL):c.753-36C>T
NM_000018.4(ACADVL):c.753-5del rs2071263119
NM_000018.4(ACADVL):c.753-6C>T
NM_000018.4(ACADVL):c.753-9C>T rs1262931604
NM_000018.4(ACADVL):c.755A>G (p.Asn252Ser) rs2071263384
NM_000018.4(ACADVL):c.757G>A (p.Gly253Arg) rs1555528345
NM_000018.4(ACADVL):c.758G>A (p.Gly253Glu) rs2071263753
NM_000018.4(ACADVL):c.759_761del (p.Gly254del) rs1555528346
NM_000018.4(ACADVL):c.766G>C (p.Ala256Pro) rs2071264273
NM_000018.4(ACADVL):c.769G>A (p.Asp257Asn)
NM_000018.4(ACADVL):c.770A>G (p.Asp257Gly)
NM_000018.4(ACADVL):c.770A>T (p.Asp257Val) rs2071264623
NM_000018.4(ACADVL):c.773T>G (p.Ile258Ser) rs1197133430
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser) rs1597528061
NM_000018.4(ACADVL):c.786T>G (p.Phe262Leu) rs777747704
NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe) rs1597516267
NM_000018.4(ACADVL):c.803C>T (p.Thr268Ile)
NM_000018.4(ACADVL):c.808C>T (p.Pro270Ser) rs2071266963
NM_000018.4(ACADVL):c.809C>G (p.Pro270Arg)
NM_000018.4(ACADVL):c.811G>A (p.Ala271Thr) rs2142977919
NM_000018.4(ACADVL):c.821C>T (p.Ala274Val)
NM_000018.4(ACADVL):c.826A>G (p.Lys276Glu)
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.833A>T (p.Lys278Met)
NM_000018.4(ACADVL):c.841G>C (p.Ala281Pro) rs2142978096
NM_000018.4(ACADVL):c.845T>C (p.Phe282Ser) rs2071268683
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp) rs201509063
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
NM_000018.4(ACADVL):c.86G>A (p.Gly29Glu) rs1247979958
NM_000018.4(ACADVL):c.877C>T (p.His293Tyr)
NM_000018.4(ACADVL):c.879-11C>G rs1395957890
NM_000018.4(ACADVL):c.879-13T>A
NM_000018.4(ACADVL):c.879-14C>G
NM_000018.4(ACADVL):c.883C>T (p.Pro295Ser)
NM_000018.4(ACADVL):c.886C>T (p.Pro296Ser)
NM_000018.4(ACADVL):c.887C>T (p.Pro296Leu)
NM_000018.4(ACADVL):c.889G>A (p.Glu297Lys) rs2071287310
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000018.4(ACADVL):c.891G>C (p.Glu297Asp) rs2071287588
NM_000018.4(ACADVL):c.895A>G (p.Lys299Glu) rs2142979869
NM_000018.4(ACADVL):c.896A>G (p.Lys299Arg) rs771247610
NM_000018.4(ACADVL):c.897G>C (p.Lys299Asn)
NM_000018.4(ACADVL):c.898A>G (p.Met300Val) rs1026112888
NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)
NM_000018.4(ACADVL):c.901G>A (p.Gly301Ser) rs199738655
NM_000018.4(ACADVL):c.904A>T (p.Ile302Phe) rs2071288448
NM_000018.4(ACADVL):c.910G>A (p.Ala304Thr)
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val) rs1473375424
NM_000018.4(ACADVL):c.920C>G (p.Thr307Arg) rs866743364
NM_000018.4(ACADVL):c.922G>A (p.Ala308Thr)
NM_000018.4(ACADVL):c.937G>C (p.Asp313His)
NM_000018.4(ACADVL):c.938_940del (p.Asp313del) rs2142980046
NM_000018.4(ACADVL):c.944T>G (p.Val315Gly) rs1555528469
NM_000018.4(ACADVL):c.949G>A (p.Val317Met) rs1567565417
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu) rs149467828
NM_000018.4(ACADVL):c.963C>A (p.Asn321Lys) rs568118142
NM_000018.4(ACADVL):c.975G>C (p.Glu325Asp) rs1271862153
NM_000018.4(ACADVL):c.976G>T (p.Val326Phe)
NM_000018.4(ACADVL):c.977T>C (p.Val326Ala) rs1205407134
NM_000018.4(ACADVL):c.988T>C (p.Phe330Leu) rs947624074
NM_000018.4(ACADVL):c.990C>G (p.Phe330Leu) rs2071292084
NM_000018.4(ACADVL):c.997G>A (p.Ala333Thr) rs2071292782
NM_001321075.3(DLG4):c.-27C>T rs1555526472
NM_001365.5(DLG4):c.159+435_159+439del rs1178274476
NM_001365.5(DLG4):c.159+439_159+444dup rs1258394272
NM_001365.5(DLG4):c.159+465C>T rs1555526671
NM_001365.5(DLG4):c.159+472G>A rs1555526667
NM_001365.5(DLG4):c.159+487G>A rs1237915800
NM_001365.5(DLG4):c.159+489GCTTCT[3] rs1555526655
NM_001608.4(ACADL):c.*621G>A rs886055550
NM_001608.4(ACADL):c.24dup (p.Ser9fs) rs764706552
NM_001608.4(ACADL):c.928_933delinsCATGAATGTTATGTTT (p.Thr310fs) rs1559636157

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.