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

From: 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

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
  1. 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/.
  2. Frequency in the 6500 exomes and1000 genomes.
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BMC Research Notes

ISSN: 1756-0500

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