| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.10213980dup | CA10575782 | CLCN4 | c.1876dup (p.Ile626AsnfsTer?) c.1900dup (p.Ile634AsnfsTer?) c.1594dup (p.Ile532AsnfsTer?) c.*1650dup (n.*1650dup) c.1783dup (p.Ile595AsnfsTer?) | ClinVar dbSNP |
| X | g.10213980A= | CA3065115992 | CLCN4 | c.1876A= (p.Ile626=) c.1900A= (p.Ile634=) c.1594A= (p.Ile532=) c.*1650A= (n.*1650A=) c.1783A= (p.Ile595=) | dbSNP |