| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60836105G>T | CA252058 | CHD7 | c.3811G>T (p.Glu1271Ter) c.1717-26124G>T (n.1717-26124G>T) c.1798G>T (p.Glu600Ter) c.1348G>T (p.Glu450Ter) c.556G>T (p.Glu186Ter) | ClinVar dbSNP |
| 8 | g.60836105G= | CA1788112347 | CHD7 | c.3811G= (p.Glu1271=) c.1717-26124G= (n.1717-26124G=) c.1798G= (p.Glu600=) c.1348G= (p.Glu450=) c.556G= (p.Glu186=) | dbSNP |
| 8 | g.60836105G>C | CA371316158 | CHD7 | c.3811G>C (p.Glu1271Gln) c.1717-26124G>C (n.1717-26124G>C) c.1798G>C (p.Glu600Gln) c.1348G>C (p.Glu450Gln) c.556G>C (p.Glu186Gln) | dbSNP |
| 8 | g.60836105G>A | CA371316159 | CHD7 | c.3811G>A (p.Glu1271Lys) c.1717-26124G>A (n.1717-26124G>A) c.1798G>A (p.Glu600Lys) c.1348G>A (p.Glu450Lys) c.556G>A (p.Glu186Lys) | dbSNP gnomAD v4 |