Table 2 Family list of candidate genes determined through WES analysis.
From: Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation
Gene | Annotation | Zygosity in affected(s) | SNP ID | gnomAD Freq | SIFT | PROVEAN | PolyPhen-2 | MutationTaster |
|---|---|---|---|---|---|---|---|---|
Solved Families | ||||||||
Family C137 | ||||||||
RPE65 | NM_000329.3:c.1430 G > A:p.(Asp477Gly) | Het | rs1571158279 | – | Tolerated | Neutral | Benign | Disease causing |
Family M53 | ||||||||
ABCA4 | NM_000350.3:c.4469 G > A:p.(Cys1490Tyr) | Het | rs61751402 | 5.90E-05 | Not tolerated | Deleterious | Probably damaging | Disease causing |
|  | NC_000001.11(ABCA4):c.4539 + 2028 C > T:p.(Arg1514Leufs*36) | Het | – | – | – | – | – | – |
Family M59 | ||||||||
BBS1 | NM_024649.5:c.1169 T > G: p.(Met390Arg) | Het | rs113624356 | 0.0015 | Not tolerated | Deleterious | Posssibly damaging | Disease causing |
|  | NM_024649.5:c.1040delT:p.(Met347Argfs*27) | Het | – | – | – | – | – | – |
Partially Solved Families | ||||||||
Family M73 | ||||||||
CDH23 | NM_022124.5:c.767 G > A:p.(Arg256His) | Het | rs371646164 | 5.40E-04 | Tolerated | Neutral | Probably damaging | Polymorphism |
|  | NM_022124.5:c.2263 C > T:p.(His755Tyr) | Homo | rs181255269 | 0.00139776 | Tolerated | Neutral | Probably damaging | Disease causing |
|  | NM_022124.5:c.7415 T > A:p.(Ile2472Asn) | Homo | – | – | Tolerated | Neutral | Benign | Disease causing |
PEX6 | NM_000287.3:c.1802G > A:p.(Arg601Gln) | Het | rs34324426 | 0.002956 | Not tolerated | Deleterious | Probably damaging | Disease causing |
PEX6 | NM_000287.3:c.*437_*445del | Het | rs144286892 | 0.35810 | – | – | – | – |
Putatively Novel Cases | ||||||||
Family M54 | ||||||||
LRP1 | NM_002332.3:c.650 C > T:p.(Ala217Val) | Het | rs1800127 | 0.0184 | Not tolerated | Neutral | Benign | Polymorpishm |
|  | NM_002332.3:c.9628 G > C:p.(Glu3210Gln) | Het | rs769969579 | 2.80E-05 | Tolerated | Neutral | Probably damaging | Disease causing |
Family M70 | ||||||||
LRP1 | NM_002332.3:c.2910 G > A:p.(Ser970 = ) | Het | rs78054559 | 1.15E-03 | – | – | – | – |
|  | NM_002332.3:c.11930 C > T:p.(Ser3977Leu) | Het | rs142650905 | 4.67E-04 | NA | Deleterious | Probably damaging | Disease causing |
Family M72 | ||||||||
STUM | NM_001003665.3:c.62 A > G:p.(Asp21Gly) | Het | Novel | – | Not tolerated | Neutral | Benign | Polymorphism |
TOP2A | NM_001067.3:c.2321 A > T: p.(Asn774Ile) | Het | rs61756342 | 0.001176 | Not tolerated | Deleterious | Possibly damaging | Disease causing |
UBE2U | NM_152489.1 c.122 A > C:p.(Glu41Ala) | Het | Novel | – | Tolerated | Deleterious | Probably damaging | Disease causing |
