Gene | Nucleotide Change | Amino acid change | SIFT_Predict | PolyPhen_2_Predict | MutationTaster_Predict | Conservation | ACMG classification |
---|---|---|---|---|---|---|---|
TYR | c.559_560insCATTATTATGTGTCAAATTATCCCC | p.G190Cfs*12 | NA | NA | NA | Conserved | PVS1,PM2,PP4 pathogenic |
OCA2 | c.1514 T > C | p.F505S | Damaging | Probably_damaging | Disease_causing | Conserved | PM2,PM3,PP3,PP4 likely pathogenic |