| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19358953_19358956dup | CA320449 | PDHA1 | c.958_961dup (p.Ser321LysfsTer3) c.*629_*632dup (n.*629_*632dup) c.1021_1024dup (p.Ser342LysfsTer3) c.1051_1054dup (p.Ser352LysfsTer3) n.732_735dup c.*269_*272dup (n.*269_*272dup) c.*392_*395dup (n.*392_*395dup) c.937_940dup (p.Ser314LysfsTer3) c.94_97dup (p.Ser33LysfsTer3) n.376_379dup n.365_368dup c.844_847dup (p.Ser283LysfsTer3) c.1072_1075dup (p.Ser359LysfsTer3) c.979_982dup (p.Ser328LysfsTer3) | ClinVar dbSNP |
| X | g.19358954_19358956del | CA121206 | PDHA1 | c.959_961del (p.Lys320del) c.*630_*632del (n.*630_*632del) c.1022_1024del (p.Lys341del) c.1052_1054del (p.Lys351del) n.733_735del c.*270_*272del (n.*270_*272del) c.*393_*395del (n.*393_*395del) c.938_940del (p.Lys313del) c.95_97del (p.Lys32del) n.377_379del n.366_368del c.845_847del (p.Lys282del) c.1073_1075del (p.Lys358del) c.980_982del (p.Lys327del) | ClinVar dbSNP |