| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16137994C>G | CA16602603 | EPHA2 | c.1171G>C (p.Gly391Arg) n.376G>C c.1009G>C (p.Gly337Arg) | ClinVar dbSNP |
| 1 | g.16137994C>A | CA338633028 | EPHA2 | c.1171G>T (p.Gly391Ter) n.376G>T c.1009G>T (p.Gly337Ter) | dbSNP |
| 1 | g.16137994C>T | CA625293 | EPHA2 | c.1171G>A (p.Gly391Arg) n.376G>A c.1009G>A (p.Gly337Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16137994C= | CA1140506034 | EPHA2 | c.1171G= (p.Gly391=) n.376G= c.1009G= (p.Gly337=) | dbSNP |