Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100407979G>A | CA316304 | PCDH19 | c.619C>T (p.Arg207Ter) | ClinVar dbSNP |
X | g.100407979G>C | CA333826092 | PCDH19 | c.619C>G (p.Arg207Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.100407979G= | CA2447976959 | PCDH19 | c.619C= (p.Arg207=) | dbSNP |