| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32463507_32463508del | CA658799650 | DMD | n.3572_3573del c.3365_3366del (p.Glu1122ValfsTer6) c.3353_3354del (p.Glu1118ValfsTer6) c.94-98307_94-98306del (n.94-98307_94-98306del) c.94-98796_94-98795del (n.94-98796_94-98795del) n.336-246443_336-246442del c.3341_3342del (p.Glu1114ValfsTer6) c.2996_2997del (p.Glu999ValfsTer6) c.3236_3237del (p.Glu1079ValfsTer6) | ClinVar dbSNP gnomAD v4 |
| X | g.32463507_32463508dup | CA16043315 | DMD | n.3572_3573dup c.3365_3366dup (p.Phe1123SerfsTer?) c.3353_3354dup (p.Phe1119SerfsTer?) c.94-98307_94-98306dup (n.94-98307_94-98306dup) c.94-98796_94-98795dup (n.94-98796_94-98795dup) n.336-246443_336-246442dup c.3341_3342dup (p.Phe1115SerfsTer?) c.2996_2997dup (p.Phe1000SerfsTer?) c.3236_3237dup (p.Phe1080SerfsTer?) | ClinVar dbSNP |