Allelic Variant | Zygosity | Amino acid change | SIFT | Polyphen-2 | MutationTaster | GERP++ |
---|---|---|---|---|---|---|
MITF NM_198159.2 c.1013C > T | Homozygous | P338L | Tolerated Score:0.92 | Probably damaging Score:1 | Disease causing Score:1 | Conserved Score:5.06 |
MYO15A NM_016239 c.1454 T > C | Homozygous | V485A | Damaging Score:0 | Probably damaging Score:0.9 | Disease causing Score:0.9 | Conserved Score:5.1 |
MYH14 NM_001145809 c.1150G > T | Heterozygous | G384C | Damaging Score: 0 | Probably damaging Score:1 | Disease causing Score:1 | Conserved Score:3.42 |
MYO7A NM_000260.3 c.5835 C > T | Heterozygous | Q1855* | NA | NA | Disease causing Score:1 | NA |