Genomic change | CDS change | Protein change | Frequency | MutationTaster |
---|---|---|---|---|
g.74425_74436del12 | c.1651_1662del12 | p.(Pro551_Glu554del) | 1 | Disease causing (0.947)b |
g.74426_74479del54 | c.1652_1705del54 | p.(Pro551_Val569delinsLeu) | 1 | Disease causing (0.999) |
g.74431_74451del21 | c.1657_1677del21 | p.(Tyr553_Val559del) | 1 | Disease causing (0.999) |
g.74443_74448del6 | c.1669_1674del6 | p.(Trp557_Lys558del) | 14 | Disease causing (0.999) |
g.74444_74449del6 | c.1670_1675del6 | p.(Trp557_Val559delinsPhe) | 2 | Disease causing (0.986) |
g.74446_74451del6 | c.1672_1677del6 | p.(Lys558_Val559del) | 1 | Disease causing (0.999) |
g.74480delTa | c.1706delT | p.(Tyr570ThrfsTer2) | 1 | Disease causing (1) |