| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27366778G>A | CA1576644 | EIF2B4,GTF3C2-AS2 | c.1172C>T (p.Ala391Val) c.*438C>T (n.*438C>T) c.746C>T c.1169C>T (p.Ala390Val) c.1232C>T (p.Ala411Val) n.3073C>T c.1235C>T (p.Ala412Val) c.1163C>T (p.Ala388Val) c.1127C>T (p.Ala376Val) c.1124C>T (p.Ala375Val) c.554C>T (p.Ala185Val) n.1772-646G>A c.1079C>T (p.Ala360Val) c.587C>T (p.Ala196Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27366778G>C | CA1576643 | EIF2B4,GTF3C2-AS2 | c.1172C>G (p.Ala391Gly) c.*438C>G (n.*438C>G) c.746C>G c.1169C>G (p.Ala390Gly) c.1232C>G (p.Ala411Gly) n.3073C>G c.1235C>G (p.Ala412Gly) c.1163C>G (p.Ala388Gly) c.1127C>G (p.Ala376Gly) c.1124C>G (p.Ala375Gly) c.554C>G (p.Ala185Gly) n.1772-646G>C c.1079C>G (p.Ala360Gly) c.587C>G (p.Ala196Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27366778G>T | CA44511340 | EIF2B4,GTF3C2-AS2 | c.1172C>A (p.Ala391Asp) c.*438C>A (n.*438C>A) c.746C>A c.1169C>A (p.Ala390Asp) c.1232C>A (p.Ala411Asp) n.3073C>A c.1235C>A (p.Ala412Asp) c.1163C>A (p.Ala388Asp) c.1127C>A (p.Ala376Asp) c.1124C>A (p.Ala375Asp) c.554C>A (p.Ala185Asp) n.1772-646G>T c.1079C>A (p.Ala360Asp) c.587C>A (p.Ala196Asp) | ClinVar dbSNP gnomAD v4 |