Gene | OMIM gene | Nucleotide change | Amino acid change | Allelic status | rsID | Classification |
---|---|---|---|---|---|---|
ARL2BP | 615,407 | NM_012106.4:c.294-1G > C | p.(?) | Hom | rs1567526361 | LP (PVS1, PM2) |
IFT172 | 607,386 | NM_015662.2:c.4933G > A | NP_056477.1:p.(Val1645Ile) | Het | rs149117098 | B |
EYS | 612,424 | NM_001142800.1:c.3586T > C | NP_001136272.1:p.(Cys1196Arg) | Het | rs374409854 | B |
FLVCR1 | 609,144 | NM_014053.3:c.1028T > C | NP_054772.1:p.(Ile343Thr) | Het | rs774455543 | VUS |