List of variants studied for congenital multicore myopathy with external ophthalmoplegia by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	rs118192173	0.00005
NM_000540.2(RYR1):c.14647-1449A>G	rs193922886	0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	rs118192174	0.00001
NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]
NM_000540.2(RYR1):c.[5726_5727delAG;9242T>C]
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)	rs193922836
NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser)	rs118192164
NM_000540.3(RYR1):c.14365-2A>T	rs193922870
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)	rs193922771
NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del)	rs876661306
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)	rs121918596
NM_000540.3(RYR1):c.[11941C>T;8342_8343del]

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