| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74056384G>C | CA367881796 | ELN | c.1264G>C (p.Gly422Arg) c.1129+27G>C (n.1129+27G>C) c.1279G>C (p.Gly427Arg) c.913G>C (p.Gly305Arg) c.1234G>C (p.Gly412Arg) c.1222G>C (p.Gly408Arg) c.1249G>C (p.Gly417Arg) c.1105+27G>C (n.1105+27G>C) c.1228G>C (p.Gly410Arg) c.1243G>C (p.Gly415Arg) c.1237G>C (p.Gly413Arg) c.1225G>C (p.Gly409Arg) c.1213G>C (p.Gly405Arg) c.1198G>C (p.Gly400Arg) c.1192G>C (p.Gly398Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74056384G>A | CA282319 | ELN | c.1264G>A (p.Gly422Ser) c.1129+27G>A (n.1129+27G>A) c.1279G>A (p.Gly427Ser) c.913G>A (p.Gly305Ser) c.1234G>A (p.Gly412Ser) c.1222G>A (p.Gly408Ser) c.1249G>A (p.Gly417Ser) c.1105+27G>A (n.1105+27G>A) c.1228G>A (p.Gly410Ser) c.1243G>A (p.Gly415Ser) c.1237G>A (p.Gly413Ser) c.1225G>A (p.Gly409Ser) c.1213G>A (p.Gly405Ser) c.1198G>A (p.Gly400Ser) c.1192G>A (p.Gly398Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |