| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75017093C>G | CA390417489 | MLH3 | c.4351G>C (p.Glu1451Gln) c.4279G>C (p.Glu1427Gln) c.1422G>C c.364G>C (p.Glu122Gln) n.393G>C c.3817G>C (p.Glu1273Gln) c.4246G>C (p.Glu1416Gln) c.4174G>C (p.Glu1392Gln) c.4180G>C (p.Glu1394Gln) n.4567G>C c.799G>C (p.Glu267Gln) n.4442G>C n.4354G>C n.4527G>C n.4422G>C n.4359G>C n.4523G>C n.4514G>C | ClinVar dbSNP |
| 14 | g.75017093C>T | CA117597 | MLH3 | c.4351G>A (p.Glu1451Lys) c.4279G>A (p.Glu1427Lys) c.1422G>A c.364G>A (p.Glu122Lys) n.393G>A c.3817G>A (p.Glu1273Lys) c.4246G>A (p.Glu1416Lys) c.4174G>A (p.Glu1392Lys) c.4180G>A (p.Glu1394Lys) n.4567G>A c.799G>A (p.Glu267Lys) n.4442G>A n.4354G>A n.4527G>A n.4422G>A n.4359G>A n.4523G>A n.4514G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |