Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63488320_63488328del | CA10586040 | EEF1A2 | c.1333_1341del (p.Gln445_Ala447del) c.1375_1380+3del c.1375_1383del (p.Gln459_Ala461del) c.1350+25_1350+33del (n.1350+25_1350+33del) c.*1247_*1255del (n.*1247_*1255del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63488320_63488328dup | CA746495643 | EEF1A2 | c.1333_1341dup (p.Ala447_Gly448insGlnLysAla) c.1375_1380+3dup c.1375_1383dup (p.Ala461_Gly462insGlnLysAla) c.1350+25_1350+33dup (n.1350+25_1350+33dup) c.*1247_*1255dup (n.*1247_*1255dup) | dbSNP gnomAD v3 gnomAD v4 |