Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report

Table 1 Variants identified in the RYR1 gene trough NGS sequencing of a panel of 88 muscle genes using MiSeq – Ilumina panel

AAChange.refGene	6500 exomes	1000 genomes
Homozygouse variants
RYR1:NM_000540:exon7:c.A594G:p.L198L,RYR1:NM_001042723:exon7:c.A594G:p.L198L	0,603029	0,6
RYR1:NM_000540:exon11:c.T1077C:p.A359A,RYR1:NM_001042723:exon11:c.T1077C:p.A359A	0,895202	0,93
RYR1:NM_000540:exon15:c.G1668A:p.S556S,RYR1:NM_001042723:exon15:c.G1668A:p.S556S	0,632093	0,64
RYR1:NM_000540:exon19:c.C2286T:p.P762P,RYR1:NM_001042723:exon19:c.C2286T:p.P762P	0,617023	0,62
RYR1:NM_000540:exon24:c.G2943A:p.T981T,RYR1:NM_001042723:exon24:c.G2943A:p.T981T	0,597092	0,6
Heterozygouse variants
RYR1:NM_000540:exon45:c.C7260T:p.H2420H,RYR1:NM_001042723:exon45:c.C7260T:p.H2420H	0,02914	0,03
RYR1:NM_000540:exon49:c.C7872T:p.R2624R,RYR1:NM_001042723:exon49:c.C7872T:p.R2624R	0,168538	0,16
RYR1:NM_000540:exon50:c.G7977A:p.T2659T,RYR1:NM_001042723:exon50:c.G7977A:p.T2659T	0,319545	0,36
RYR1:NM_000540:exon51:c.T8118C:p.I2706I,RYR1:NM_001042723:exon51:c.T8118C:p.I2706I	0,319775	0,36
RYR1:NM_000540:exon51:c.T8190C:p.D2730D,RYR1:NM_001042723:exon51:c.T8190C:p.D2730D	0,32362	0,37
RYR1:NM_000540:exon53:c.G8337A:p.E2779E,RYR1:NM_001042723:exon53:c.G8337A:p.E2779E	0,308213	0,35
RYR1:NM_000540:exon55:c.T8589C:p.S2863S,RYR1:NM_001042723:exon55:c.T8589C:p.S2863S	0,313624	0,36
RYR1:NM_000540:exon62:c.A9186G:p.P3062P,RYR1:NM_001042723:exon62:c.A9186G:p.P3062P	0,310857	0,35
RYR1:NM_001042723:exon97:c.A14241C:p.T4747T,RYR1:NM_000540:exon98:c.A14256C:p.T4752T	0,108642	0,14
RYR1:NM_001042723:exon101:c.T14678C:p.I4893T,RYR1:NM_000540:exon102:c.T14693C:p.I4898T	0	0

NM_: Accession prefix for RNA and protein products that are mainly derived from GenBank cDNA and EST data and are supported by the RefSeq eukaryotic curation group. http://www.ncbi.nlm.nih.gov/refseq/about/.
Frequency in the 6500 exomes and1000 genomes.