| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23275723C>T | CA7112057 | HOMEZ | c.1511G>A (p.Arg504Gln) c.1505G>A (p.Arg502Gln) c.1172G>A (p.Arg391Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23275723C>A | CA388973532 | HOMEZ | c.1511G>T (p.Arg504Leu) c.1505G>T (p.Arg502Leu) c.1172G>T (p.Arg391Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23275723C= | CA2123391670 | HOMEZ | c.1511G= (p.Arg504=) c.1505G= (p.Arg502=) c.1172G= (p.Arg391=) | dbSNP |