Variants with conflicting interpretations studied for Very long chain acyl-CoA dehydrogenase deficiency

Minimum review status of the submission for Very long chain acyl-CoA dehydrogenase deficiency:		Collection method of the submission for Very long chain acyl-CoA dehydrogenase deficiency:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
1327	162	0	192	64	0	105	318

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Very long chain acyl-CoA dehydrogenase deficiency		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	178	59	0	0
	likely pathogenic	178	0	79	1	0
	uncertain significance	59	79	0	54	19
	likely benign	0	1	54	0	14
	benign	0	0	19	14	0

Condition to condition summary #

Total conditions: 1

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Very long chain acyl-CoA dehydrogenase deficiency	1327	162	0	192	64	0	105	318

All variants with conflicting interpretations #

Total variants: 318

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)	rs2230180	0.00920
NM_000018.4(ACADVL):c.623-8C>T	rs144996066	0.00919
NM_000018.4(ACADVL):c.636C>T (p.Ala212=)	rs76547988	0.00560
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.1828-4C>G	rs184559206	0.00192
NM_000018.4(ACADVL):c.1678+23C>T	rs147546456	0.00163
NM_000018.4(ACADVL):c.1606-22C>T	rs370303265	0.00139
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)	rs150149784	0.00124
NM_000018.4(ACADVL):c.663C>T (p.Ser221=)	rs144255994	0.00116
NM_000018.4(ACADVL):c.780G>A (p.Thr260=)	rs140871321	0.00108
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.68G>A (p.Arg23Gln)	rs34153370	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.1227G>A (p.Thr409=)	rs778531268	0.00014
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	rs200788251	0.00014
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.62+9G>A	rs369512281	0.00010
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.520G>A (p.Val174Met)	rs369560930	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.62+18G>A	rs780776419	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.760G>A (p.Gly254Ser)	rs765423779	0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	rs113994168	0.00005
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)	rs745832866	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.1820G>C (p.Cys607Ser)	rs200117742	0.00004
NM_000018.4(ACADVL):c.342+15G>A	rs777751102	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.1097G>A (p.Arg366His)	rs112406105	0.00003
NM_000018.4(ACADVL):c.1182+1G>A	rs113690956	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.1376G>A (p.Arg459Gln)	rs751995154	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.1837C>T (p.Arg613Trp)	rs118204014	0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	rs534647044	0.00003
NM_000018.4(ACADVL):c.343-14T>C	rs200368309	0.00003
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala)	rs372684079	0.00003
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.1322G>A (p.Gly441Asp)	rs2309689	0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	rs138058572	0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)	rs794727111	0.00002
NM_000018.4(ACADVL):c.1679-6G>A	rs113994171	0.00002
NM_000018.4(ACADVL):c.477+8C>T	rs1437698813	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.790A>G (p.Lys264Glu)	rs1231343685	0.00002
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)	rs531514327	0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)	rs766192888	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.1001T>G (p.Met334Arg)	rs398123079	0.00001
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)	rs1567565733	0.00001
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)	rs1351976589	0.00001
NM_000018.4(ACADVL):c.1077+1G>T	rs140989450	0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)	rs1057523504	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.1268C>A (p.Ser423Ter)	rs1451455641	0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)	rs765356942	0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	rs118204016	0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	rs794727113	0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)	rs1419606204	0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)	rs1175359422	0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)	rs118204017	0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)	rs766742117	0.00001
NM_000018.4(ACADVL):c.138+1G>A	rs747351687	0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	rs200366828	0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	rs113994170	0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)	rs398123083	0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	rs759775666	0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	rs200771970	0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)	rs370282954	0.00001
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)	rs745996278	0.00001
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)	rs779770406	0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)	rs1085307648	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.1827+10G>A	rs766755156	0.00001
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)	rs753577095	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.342+18G>A	rs372594520	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)	rs1416443472	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.497_498del (p.Ile166fs)	rs1057516369	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.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)	rs763630981	0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)	rs371407903	0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)	rs398123090	0.00001
NM_000018.4(ACADVL):c.62+20G>A	rs369163211	0.00001
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)	rs748329498	0.00001
NM_000018.4(ACADVL):c.63-18A>G	rs1481782237	0.00001
NM_000018.4(ACADVL):c.63-2A>C	rs1555527513	0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)	rs140629318	0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)	rs746860401	0.00001
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)	rs767063791	0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	rs398123091	0.00001
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	rs786204536	0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)	rs749159573	0.00001
NM_000018.4(ACADVL):c.753-2A>C	rs398123092	0.00001
NM_000018.4(ACADVL):c.770del (p.Asp257fs)	rs2071264706	0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)	rs202216257	0.00001
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)	rs745557512	0.00001
NM_000018.4(ACADVL):c.878+1G>C	rs757946752	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.887_888del (p.Pro296fs)	rs753108198	0.00001
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)	rs771247610	0.00001
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)	rs142765230	0.00001
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)	rs749734276	0.00001
NM_000018.3(ACADVL):c.1375dup	rs796051916
NM_000018.3(ACADVL):c.625del	rs2071251239
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)	rs1567565643
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)	rs2071295244
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)	rs1329022268
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)	rs1555528508
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs)	rs2071296591
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs)	rs1402646371
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	rs1555527532
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)	rs754325237
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
NM_000018.4(ACADVL):c.1077+1G>A	rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	rs1057516686
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)	rs1331739604
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)	rs1567566228
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)	rs776063244
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)	rs1057517416
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)	rs1057517281
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)	rs118204015
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)	rs1281137823
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)	rs2071316298
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val)	rs2071337130
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)	rs2071338251
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	rs118204018
NM_000018.4(ACADVL):c.1251del (p.Ser418fs)	rs2142984544
NM_000018.4(ACADVL):c.1269+1G>A	rs773401248
NM_000018.4(ACADVL):c.1269+1del	rs2071340733
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)	rs1419478766
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)	rs1057516519
NM_000018.4(ACADVL):c.1283del (p.Lys428fs)	rs1555528745
NM_000018.4(ACADVL):c.128del (p.Gly43fs)	rs2071123075
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)	rs1597534677
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)	rs2071345754
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)	rs2071345821
NM_000018.4(ACADVL):c.1316del (p.Gly439fs)	rs748077880
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	rs748077880
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)	rs1567567440
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
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.1367G>A (p.Arg456His)	rs794727112
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)	rs751995154
NM_000018.4(ACADVL):c.138+2dup	rs1555527548
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)	rs2071355499
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)	rs398123082
NM_000018.4(ACADVL):c.1409del (p.Leu470fs)	rs2071356603
NM_000018.4(ACADVL):c.1434+14T>A	rs202217537
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs)	rs1567560601
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)	rs771117714
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del)	rs762619071
NM_000018.4(ACADVL):c.1508del (p.Gly503fs)	rs1214222702
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
NM_000018.4(ACADVL):c.1532+2T>C	rs111851815
NM_000018.4(ACADVL):c.1533G>A (p.Arg511=)	rs886038214
NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs)	rs2071371983
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter)	rs2071146837
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)	rs1060499596
NM_000018.4(ACADVL):c.1605+2T>A	rs1597537351
NM_000018.4(ACADVL):c.1605+2T>C	rs1597537351
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
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.1630_1645del (p.Ala544fs)	rs1131691553
NM_000018.4(ACADVL):c.1678+3_1678+6del	rs759135941
NM_000018.4(ACADVL):c.1679-5del	rs1555528999
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)	rs2071393587
NM_000018.4(ACADVL):c.1723dup (p.Leu575fs)	rs2071395312
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)	rs2071395559
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)	rs1555529048
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)	rs796051917
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)	rs2142990894
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)	rs886053372
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter)	rs2071404265
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)	rs1057520507
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.1882del (p.Gln628fs)	rs1597541142
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs)	rs2071412513
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)	rs1555529204
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)	rs2142964399
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)	rs1452402269
NM_000018.4(ACADVL):c.192del (p.Lys64fs)	rs771055189
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)	rs771055189
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)	rs2071416769
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	rs765432568
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)	rs1161495077
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)	rs796051907
NM_000018.4(ACADVL):c.266del (p.Pro89fs)	rs771808680
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)	rs2071160066
NM_000018.4(ACADVL):c.277+2T>G	rs1555527745
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
NM_000018.4(ACADVL):c.278-1G>A	rs1298004609
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs)	rs2071168842
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)	rs786204713
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)	rs1597520263
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	rs1057516979
NM_000018.4(ACADVL):c.335del (p.Phe112fs)	rs764028320
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu)	rs750653177
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)	rs370146676
NM_000018.4(ACADVL):c.343del	rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	rs387906251
NM_000018.4(ACADVL):c.388del (p.Glu130fs)	rs2142969054
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu)	rs2071185757
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)	rs2071185652
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)	rs398123088
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	rs758144859
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)	rs786204738
NM_000018.4(ACADVL):c.477+17G>A	rs375076326
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter)	rs371910495
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	rs375284481
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly)	rs2071225938
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)	rs796051920
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)	rs1597524963
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)	rs1131691808
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)	rs796051909
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser)	rs2071231356
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs)	rs1258134795
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)	rs1597525536
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)	rs398123090
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	rs768975918
NM_000018.4(ACADVL):c.623-1G>A	rs1597526782
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)	rs2142976531
NM_000018.4(ACADVL):c.632_633del (p.Val211fs)	rs1489679976
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	rs140629318
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.644_647del (p.Phe214_Cys215insTer)	rs1057516714
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)	rs1432183079
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)	rs398123091
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)	rs2071253904
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)	rs372114185
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)	rs2071255080
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)	rs1241935771
NM_000018.4(ACADVL):c.693T>A (p.Ser231=)	rs77763289
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	rs1555528304
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)	rs575789958
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)	rs387906253
NM_000018.4(ACADVL):c.753-27C>T	rs374911841
NM_000018.4(ACADVL):c.753-2A>G	rs398123092
NM_000018.4(ACADVL):c.753-9C>T	rs1262931604
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)	rs1197133430
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)	rs2071266269
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	rs761204548
NM_000018.4(ACADVL):c.79_100del (p.Leu27fs)	rs2071119862
NM_000018.4(ACADVL):c.809del (p.Pro270fs)	rs1567564499
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	rs796051913
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)	rs2071269046
NM_000018.4(ACADVL):c.864del (p.Phe288fs)	rs1555528386
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	rs886044671
NM_000018.4(ACADVL):c.879-8T>A	rs2071286355
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)	rs796051914
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)	rs387906252
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)	rs1026112888
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val)	rs1473375424
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)	rs2071289046
NM_000018.4(ACADVL):c.932del (p.Phe311fs)	rs764488310
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)	rs201676770
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)	rs149467828
NM_000018.4(ACADVL):c.996del (p.Ala333fs)	rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	rs1057516843

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