| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.94666436T>G | CA1477742533 | PDLIM5 | c.*2369T>G (n.*2369T>G) c.*410T>G (n.*410T>G) | dbSNP |
| 4 | g.94666436T>C | CA11729743 | PDLIM5 | c.*2369T>C (n.*2369T>C) c.*410T>C (n.*410T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.94666436T= | CA1477742532 | PDLIM5 | c.*2369T= (n.*2369T=) c.*410T= (n.*410T=) | dbSNP |