| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74056402G>T | CA320790 | ELN | c.1282G>T (p.Gly428Ter) c.1129+45G>T (n.1129+45G>T) c.1297G>T (p.Gly433Ter) c.931G>T (p.Gly311Ter) c.1252G>T (p.Gly418Ter) c.1240G>T (p.Gly414Ter) c.1267G>T (p.Gly423Ter) c.1105+45G>T (n.1105+45G>T) c.1246G>T (p.Gly416Ter) c.1261G>T (p.Gly421Ter) c.1255G>T (p.Gly419Ter) c.1243G>T (p.Gly415Ter) c.1231G>T (p.Gly411Ter) c.1216G>T (p.Gly406Ter) c.1210G>T (p.Gly404Ter) | ClinVar dbSNP |
| 7 | g.74056402G>A | CA4292916 | ELN | c.1282G>A (p.Gly428Arg) c.1129+45G>A (n.1129+45G>A) c.1297G>A (p.Gly433Arg) c.931G>A (p.Gly311Arg) c.1252G>A (p.Gly418Arg) c.1240G>A (p.Gly414Arg) c.1267G>A (p.Gly423Arg) c.1105+45G>A (n.1105+45G>A) c.1246G>A (p.Gly416Arg) c.1261G>A (p.Gly421Arg) c.1255G>A (p.Gly419Arg) c.1243G>A (p.Gly415Arg) c.1231G>A (p.Gly411Arg) c.1216G>A (p.Gly406Arg) c.1210G>A (p.Gly404Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |