| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.23573483G>A | CA124367 | IGLL1 | c.425C>T (p.Pro142Leu) c.*54C>T (n.*54C>T) c.428C>T (p.Pro143Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573483G>C | CA410898772 | IGLL1 | c.425C>G (p.Pro142Arg) c.*54C>G (n.*54C>G) c.428C>G (p.Pro143Arg) | dbSNP gnomAD v4 |
| 22 | g.23573483G= | CA2397855945 | IGLL1 | c.425C= (p.Pro142=) c.*54C= (n.*54C=) c.428C= (p.Pro143=) | dbSNP |