Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60838255G>A | CA16618671 | CHD7 | c.4533G>A (p.Lys1511=) c.1717-23974G>A (n.1717-23974G>A) c.2520G>A (p.Lys840=) c.2070G>A (p.Lys690=) c.1278G>A (p.Lys426=) | ClinVar dbSNP |
8 | g.60838255G>T | CA371318444 | CHD7 | c.4533G>T (p.Lys1511Asn) c.1717-23974G>T (n.1717-23974G>T) c.2520G>T (p.Lys840Asn) c.2070G>T (p.Lys690Asn) c.1278G>T (p.Lys426Asn) | dbSNP gnomAD v4 |