Table 1.

Diagnoses made in the study via patient muscle RNA-seq.

Patient	Phenotype	Gene	Variants	Variant class	Effect
E2	Nemaline myopathy	NEB	chr2: 152,544,805 C>T chr2: 152,520,057 C>T	Essential splice, extended splice	Exon skipping + exon extension, exon extension
C9	Nemaline myopathy	NEB	chr2: 152,581,432 TG>T chr2: 152,389,953 A>C	Frameshift, extended splice	Exon extension
E4	Fetal akinesia	TTN	chr2: 179,586,600 CAT>C chr2: 179,446,219 ATACT>A	Frameshift, extended splice	Exon skipping
C6	Duchenne muscular dystrophy	DMD	chrX: 32,366,860 A>C	Intronic variant	Intronic splice gain
N33	Myalgia, myoglobinuria	DMD	chrX: 32,274,692 G>A	Intronic variant	Intronic splice gain
C7	Becker muscular dystrophy	DMD	chrX: 31,613,687 G>T	Intronic variant	Intronic splice gain
N29	Collagen VI–related dystrophy	COL6A1	chr21: 47,409,881 C>T	Intronic variant	Intronic splice gain
N30	Collagen VI–related dystrophy	COL6A1	chr21: 47,409,881 C>T	Intronic variant	Intronic splice gain
N31	Collagen VI–related dystrophy	COL6A1	chr21: 47,409,881 C>T	Intronic variant	Intronic splice gain
N32	Collagen VI–related dystrophy	COL6A1	chr21: 47,409,881 C>T	Intronic variant	Intronic splice gain
N25	Nemaline myopathy	NEB	chr2: 152,355,017 G>T chr2: 152,449,646G>A	Intronic variant, nonsense	Intronic splice gain
C11	Congenital fiber-type disproportion	RYR1	chr19: 38,958,362 C>T chr19: 38,958,372 G>A	Synonymous, missense	Exonic splice gain
N22	Multi/minicore congenital myopathy	TTN	chr2: 179,642,185 G>A chr2: 179,523,240 CTTCT>C	Missense, frameshift	Exonic splice gain
C1	α-Dystroglycanopathy	POMGNT1	chr1: 46,655,129 C>A chr1: 46,660,532 G>A	Essential splice, synonymous	Exonic splice gain, exon skipping
C3	Duchenne muscular dystrophy	DMD	chrX: 31,790,694–31,798,498	Inversion-deletion	Exon skipping
C2	Duchenne muscular dystrophy	DMD	chrX: 31,378,946–151,194,962	Inversion	Splice disruption
C4	Duchenne muscular dystrophy	DMD	chrX: 32,521,820–35,180,380	Inversion	Splice disruption