| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.157104725C>A | CA3531919 | HAVCR2 | c.68G>T (p.Arg23Leu) c.394+1902G>T (n.394+1902G>T) c.419G>T (p.Arg140Leu) n.682G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.157104725C>G | CA361952667 | HAVCR2 | c.68G>C (p.Arg23Pro) c.394+1902G>C (n.394+1902G>C) c.419G>C (p.Arg140Pro) n.682G>C | dbSNP gnomAD v4 |
| 5 | g.157104725C>T | CA361952665 | HAVCR2 | c.68G>A (p.Arg23Gln) c.394+1902G>A (n.394+1902G>A) c.419G>A (p.Arg140Gln) n.682G>A | dbSNP gnomAD v4 |