List of variants studied for Combined oxidative phosphorylation deficiency 40

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_018292.5(QRSL1):c.381-47A>C	rs9486434	0.43311
NM_018292.5(QRSL1):c.1425G>A (p.Leu475=)	rs2015205	0.43247
NM_018292.5(QRSL1):c.16C>T (p.Leu6Phe)	rs373031772	0.00006
NM_018292.5(QRSL1):c.850-3A>G	rs947204455	0.00002
NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu)	rs1562173313
NM_018292.5(QRSL1):c.1495C>T (p.Gln499Ter)
NM_018292.5(QRSL1):c.173G>T (p.Arg58Ile)
NM_018292.5(QRSL1):c.350G>A (p.Gly117Glu)	rs1777047446
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)	rs1562168768
NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)	rs763443331
NM_018292.5(QRSL1):c.557+49_557+50del	rs3040665
NM_018292.5(QRSL1):c.677C>T (p.Ser226Leu)

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