Chromosome location | Chr9-130630703 | Chr9-130634202–130634203 |
---|---|---|
c.variants | c.413G > A | c.223dupA |
p.variants | p.R138H | p.M75fs |
PolyPhen2 prediction (score) | Probably damaging (0.999) | NA |
SIFT prediction (score) | Toleranted (0.06) | NA |
MACP | P (0.353) | NA |
REVEL | D (0.747) | NA |
MutationTaster prediction | Disease causing | Disease causing |
InterVar | Pathogenic | |
PVS1 | 1 | |
PM1 | 1 | |
PM2 | 1 | |
PP3 | 1 |