Table 2.
Mutation in LS-associated genes found in WES data.
| Gene | Sequence | cDNA change | AA change | Mutation type | Frequency in 1000 Genomes Project | Frequency in ExAC |
|---|---|---|---|---|---|---|
| MLH1 | NM_000249.3 | c.2054C>T | p.S685F | Missense | — | — |
| MSH2 | NM_000251.3 | c.471C>A | p.G157G | Synonymous | 0.002396 | 0.0011 |
| PMS2 | NM_000535.7 | c.2006+6G>A | — | Splicing | 0.110423 | 0.0818 |
| PMS2 | NM_000535.7 | c.1621A>G | p.K541E | Missense | 0.883187 | 0.8514 |
| PMS2 | NM_000535.7 | c.780C>G | p.S260S | Synonymous | 0.83127 | 0.8109 |
| MSH3 | NM_002439.5 | c.178_179insCCGCAGCGC | p.A60delinsAAAP | Nonframeshift insertion | 0.0727 | 0.0427 |
| FAN1 | NM_014967.5 | c.698G>A | p.G233E | Missense | 0.422524 | 0.4594 |
| FAN1 | NM_014967.5 | c.3015T>C | p.H1005H | Synonymous | 0.457069 | 0.4755 |