Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63488320_63488328delCA10586040EEF1A2c.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
20g.63488320_63488328dupCA746495643EEF1A2c.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

Number of alleles fetched