List of variants studied for Carnitine palmitoyl transferase 1A deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.968-8C>T	rs2305507	0.08414
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)	rs2229738	0.05682
NM_001876.4(CPT1A):c.240G>A (p.Ser80=)	rs61731904	0.02145
NM_001876.4(CPT1A):c.556-19T>G	rs117610994	0.00984
NM_001876.4(CPT1A):c.1941C>G (p.Ala647=)	rs115731492	0.00879
NM_001876.4(CPT1A):c.2004T>C (p.Ala668=)	rs2228503	0.00879
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=)	rs111407620	0.00743
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)	rs140958507	0.00501
NM_001876.4(CPT1A):c.556-16_556-15insT	rs539173750	0.00414
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)	rs61731903	0.00262
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)	rs151271754	0.00205
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)	rs61731902	0.00039
NM_001876.4(CPT1A):c.1055G>A (p.Arg352Gln)	rs374383052	0.00003
NM_001876.4(CPT1A):c.556-12del	rs113037606

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