Table 2. The list of nonsynonymous sequence variants in genes from Wnt signaling and focal adhesion pathways, identified in KTCN corneas in ES.
| Identifier | Gene | Acession number | Positiona | cDNA | Protein | DMGb | GnomADc | Rs_idd |
|---|---|---|---|---|---|---|---|---|
| KC15 | WNT1 | NM_005430.3 | chr12:49375373G>T | c.1063G>T | p.(V355F) | 0 | NAe | rs387907358 |
| PTK6 | NM_005975.3 | chr20:62161533G>T | c.1066C>A | p.(P356T) | 0 | NA | NA | |
| KC16 | FZD2 | NM_001466.3 | chr17:42636294G>A | c.1238G>A | p.(R413Q) | 0 | 0.00002396 | rs758351214 |
| VANGL1 | NM_001172411.1 | chr1:116194075C>T | c.41C>T | p.(S14L) | 0 | NA | NA | |
| COL4A4 | NM_000092.4 | chr2:227924157C>T | c.2347G>A | p.(G783R) | 0.000333 | NA | rs1202230056 | |
| KC17 | LRP6 | NM_002336.2 | chr12:12274080G>A | c.4822C>T | p.(P1608S) | 0 | NA | NA |
| PPP3CC | NM_001243975.1 | chr8:22389795T>C | c.1199T>C | p.(M400T) | 0 | NA | NA | |
| KC18 | BIRC2 | NM_001166.4 | chr11:102248388A>G | c.1528A>G | p.(I510V) | 0.001 | 0.00002148 | rs749829698 |
| KC19 | PPP1R12A | NM_001244992.1 | chr12:80266702T>C | c.254A>G | p.(N85S) | 0.000667 | 0.00002422 | rs370959842 |
| PAK6 | NM_001276717.1 | chr15:40566454C>A | c.1855C>A | p.(P619T) | 0 | NA | NA |
Notes:
a
Human Genome Browser—hg19 assembly (GRCh37).
b
Minor allele frequency based on internal control exome database covering of 3,000 Polish individuals; Department of Medical Genetics (DMG), Medical University of Warsaw, Warsaw, Poland.
c
Minor allele frequency based on GnomAD database v2.1.2.
d
NCBI dbSNP Build 151.
e
Not available.