Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100402805del | CA16616608 | PCDH19 | c.66-224del (n.66-224del) c.2200del (p.Ile734SerfsTer19) c.2341del (p.Ile781SerfsTer19) | ClinVar dbSNP |
X | g.100402805dup | CA915951266 | PCDH19 | c.66-224dup (n.66-224dup) c.2200dup (p.Ile734AsnfsTer3) c.2341dup (p.Ile781AsnfsTer3) | ClinVar dbSNP |