Gene | Mutation | Reference sequence | Mutation type | Provean | PolyPhen-2 | Mutation Taster | Human Splicing Finder | ExAC database | Evolutionary conservation |
---|---|---|---|---|---|---|---|---|---|
B9D1 | c.508_510delCTC (p.L170del) | NM_015681 | Indel | Deleterious (−7.568) | N/A | Disease causing (0.989) | Absent | Caenorhabditis. elegans | |
CC2D2A | c.4437+1G>A | NM_001080522 | Splice site | N/A | N/A | N/A | Donor site broken | Absent | Perkinsus. marinus |
CEP290 | c.3777_3778delAG (p.R1259Sfs*16) | NM_025114 | Deletion, frameshift | N/A | N/A | Disease causing (1.000) | Absent | Danio rerio | |
INVS | c.1760delA (p.Q587Rfs*2) | NM_014425 | Deletion, frameshift | N/A | N/A | Disease causing (1.000) | Absent | Xenopus tropicalis | |
MKS1 | c.417+1G>A | NM_017777 | Splice site | N/A | N/A | N/A | Donor site broken | Absent | D. rerio |
MKS1 | c.1066C>T (p.Q356*) | NM_017777 | Nonsense | N/A | N/A | Disease causing (1.000) | Absent | D. rerio | |
NEK8 | c.1401G>A (p.W467*) | NM_178170 | Nonsense | N/A | N/A | Disease causing (1.000) | 1 het. allele reported (MAF=0.000008237) | X. tropicalis | |
NPHP3 | c.2694-1_-2delAG | NM_153240 | Deletion, frameshift | N/A | N/A | N/A | Acceptor site broken | 43 het. alleles reported (MAF=0.0003553) | D. rerio |
PKHD1 | c.3539G>A (p.G1180E) | NM_138694 | Missense | Deleterious (−6.296) | Probably damaging (0.999) | Disease causing (0.761) | Absent | Mus musculus | |
TCTN2 | c.252_253delTG (p.V85Dfs*24) | NM_024809 | Deletion, frameshift | N/A | N/A | Disease causing (1.000) | Absent | X. tropicalis | |
TCTN2 | c.1852C>T (p.Q618*) | NM_024809 | Nonsense | N/A | N/A | Disease causing (1.000) | Absent | X. tropicalis | |
TMEM67 | c.457T>G (p.C153G) | NM_153704 | Missense | Deleterious (−7.289) | Probably damaging (1.000) | Disease causing (0.999) | Absent | C. elegans | |
TMEM67 | c.1413-2A>G | NM_153704 | Splice site | N/A | N/A | N/A | Acceptor site broken | Absent | D. rerio |
Evolutionary conservation at the protein level for non-synonymous changes was analysed by comparing the wild-type amino acid in the human with other orthologues in lower species. The lowest species where exact conservation of amino acid was preserved is shown.
Het, heterozygous; MAF, minor allele frequency; N/A, not applicable.