Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154930242_154930243del | CA255145 | F8 | c.3548_3549del (p.Lys1183ArgfsTer14) c.*3214_*3215del (n.*3214_*3215del) c.3443_3444del (p.Lys1148ArgfsTer14) | ClinVar dbSNP |
X | g.154930243dup | CA873342549 | F8 | c.3549dup (p.Glu1184ArgfsTer14) c.*3215dup (n.*3215dup) c.3444dup (p.Glu1149ArgfsTer14) | dbSNP |