Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.203180945C>G | CA2481646274 | CHI3L1 | c.711+217G>C (n.711+217G>C) c.199+217G>C n.235+217G>C n.973+217G>C c.729+217G>C (n.729+217G>C) | dbSNP |
1 | g.203180945C>T | CA10912382 | CHI3L1 | c.711+217G>A (n.711+217G>A) c.199+217G>A n.235+217G>A n.973+217G>A c.729+217G>A (n.729+217G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |