Research Article
Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes
Table 1
MMRL1126 87 gene panel results.
| # locus | Gene | Exon | Protein | Coding | Sift | Polyphen | dbsnp |
| chr2:24283733 | FKBP1b | 3 | p.Lys48fs | c.136delC | VUS | VUS | rs200092869 | chr7:91714911 | AKAP9 | 41 | NEGATIVE | | | | rs1063242 | chr2:167128974 | SCN9A | 17 | p.Ser1085Pro | c.3253T>C | Damaging | Possibly damaging | rs12720442 | chr8:52366156 | PXDNL | 14 | p.Arg391Gln | c.1172G>A | VUS | VUS | rs79394014 | chr2:167262238 | SCN7A | 25 | NEGATIVE | | | | rs80098689 | chr2:166900411 | SCN1A | 11 | NEGATIVE | | | | rs121918769 |
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