| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16138117G>A | CA338634238 | EPHA2 | c.1048C>T (p.Pro350Ser) n.253C>T c.886C>T (p.Pro296Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16138117G>T | CA625332 | EPHA2 | c.1048C>A (p.Pro350Thr) n.253C>A c.886C>A (p.Pro296Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16138117G>C | CA338634239 | EPHA2 | c.1048C>G (p.Pro350Ala) n.253C>G c.886C>G (p.Pro296Ala) | dbSNP |
| 1 | g.16138117G= | CA1140264933 | EPHA2 | c.1048C= (p.Pro350=) n.253C= c.886C= (p.Pro296=) | dbSNP |