| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154360199G>A | CA341132 | FLNA | c.3596C>T (p.Ser1199Leu) c.3515C>T (p.Ser1172Leu) c.3160+1156C>T (n.3160+1156C>T) c.3653C>T (n.3653C>T) c.279+5237C>T c.3875C>T (n.3875C>T) c.3552C>T (n.3552C>T) c.3395C>T (p.Ser1132Leu) | ClinVar dbSNP COSMIC COSMIC |
| X | g.154360199G= | CA2466655460 | FLNA | c.3596C= (p.Ser1199=) c.3515C= (p.Ser1172=) c.3160+1156C= (n.3160+1156C=) c.3653C= (n.3653C=) c.279+5237C= c.3875C= (n.3875C=) c.3552C= (n.3552C=) c.3395C= (p.Ser1132=) | dbSNP |