| Family | ||
---|---|---|---|
Prediction of Variation | E30 | DEM4154 | PKDF1400 |
hg19 position, Chr.19 | 10,335,259 | 10,335,259 | 10,335,163 |
cDNA change | c.323G>A | c.323G>C | c.419A>G |
Amino acid change | p.Arg108Gln | p.Arg108Pro | p.Tyr140Cys |
ExAC | 0 | 0 | 0 |
gnomAD | 0 | 0 | 0 |
CADD | 34 | 21.7 | 22.9 |
MutationTaster | Disease causing | Disease causing | Disease causing |
SIFT | Deleterious | Deleterious | Tolerated |
PolyPhen-2 | Probably damaging | Probably damaging | Probably damaging |
ClinVar | No entry | Pathogenic | Pathogenic |
DVD | No entry | No entry | No entry |
HGMD | No entry | Hearing impairment, autosomal recessive | Hearing impairment, autosomal recessive |