| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60856592C>T | CA16612523 | CHD7 | n.488C>T c.*371C>T (n.*371C>T) c.7312C>T (p.Gln2438Ter) c.1717-5637C>T (n.1717-5637C>T) n.493C>T c.7402C>T (p.Gln2468Ter) c.7399C>T (p.Gln2467Ter) c.5389C>T (p.Gln1797Ter) c.4939C>T (p.Gln1647Ter) c.4147C>T (p.Gln1383Ter) c.7309C>T (p.Gln2437Ter) | ClinVar dbSNP |
| 8 | g.60856592C>G | CA371300770 | CHD7 | n.488C>G c.*371C>G (n.*371C>G) c.7312C>G (p.Gln2438Glu) c.1717-5637C>G (n.1717-5637C>G) n.493C>G c.7402C>G (p.Gln2468Glu) c.7399C>G (p.Gln2467Glu) c.5389C>G (p.Gln1797Glu) c.4939C>G (p.Gln1647Glu) c.4147C>G (p.Gln1383Glu) c.7309C>G (p.Gln2437Glu) | ClinVar dbSNP gnomAD v4 |