List of variants studied for Carnitine palmitoyl transferase 1A deficiency by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)	rs80356780	0.00001
NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)
NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly)	rs80356787
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val)	rs80356790
NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly)	rs80356778
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)	rs80356791
NM_001876.4(CPT1A):c.1575+533_1575+534del	rs1169875761
NM_001876.4(CPT1A):c.1876-1G>A	rs80356798
NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu)	rs28936374
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)	rs80356774
NM_001876.4(CPT1A):c.948del (p.Ile317fs)	rs80356800

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