| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43208769C>T | CA341255 | EPB42 | c.839G>A (p.Arg280Gln) n.345G>A c.929G>A (p.Arg310Gln) c.605G>A (p.Arg202Gln) n.354G>A c.698G>A (p.Arg233Gln) c.398G>A (p.Arg133Gln) c.734G>A (p.Arg245Gln) c.893G>A (p.Arg298Gln) c.824G>A (p.Arg275Gln) c.374G>A (p.Arg125Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.43208769C= | CA2173081601 | EPB42 | c.839G= (p.Arg280=) n.345G= c.929G= (p.Arg310=) c.605G= (p.Arg202=) n.354G= c.698G= (p.Arg233=) c.398G= (p.Arg133=) c.734G= (p.Arg245=) c.893G= (p.Arg298=) c.824G= (p.Arg275=) c.374G= (p.Arg125=) | dbSNP |
| 15 | g.43208769C>G | CA392116243 | EPB42 | c.839G>C (p.Arg280Pro) n.345G>C c.929G>C (p.Arg310Pro) c.605G>C (p.Arg202Pro) n.354G>C c.698G>C (p.Arg233Pro) c.398G>C (p.Arg133Pro) c.734G>C (p.Arg245Pro) c.893G>C (p.Arg298Pro) c.824G>C (p.Arg275Pro) c.374G>C (p.Arg125Pro) | dbSNP gnomAD v4 |