| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154360243G>T | CA341809 | FLNA | c.3552C>A (p.Asp1184Glu) c.3471C>A (p.Asp1157Glu) c.3160+1112C>A (n.3160+1112C>A) c.3609C>A (n.3609C>A) c.279+5193C>A c.3831C>A (n.3831C>A) c.3508C>A (n.3508C>A) c.3351C>A (p.Asp1117Glu) | ClinVar dbSNP |
| X | g.154360243G>A | CA519708303 | FLNA | c.3552C>T (p.Asp1184=) c.3471C>T (p.Asp1157=) c.3160+1112C>T (n.3160+1112C>T) c.3609C>T (n.3609C>T) c.279+5193C>T c.3831C>T (n.3831C>T) c.3508C>T (n.3508C>T) c.3351C>T (p.Asp1117=) | ClinVar dbSNP gnomAD v4 |
| X | g.154360243G= | CA2466655474 | FLNA | c.3552C= (p.Asp1184=) c.3471C= (p.Asp1157=) c.3160+1112C= (n.3160+1112C=) c.3609C= (n.3609C=) c.279+5193C= c.3831C= (n.3831C=) c.3508C= (n.3508C=) c.3351C= (p.Asp1117=) | dbSNP |