| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3084303C>G | CA2346406046 | AVP | c.120+252G>C (n.120+252G>C) | dbSNP |
| 20 | g.3084303C>T | CA14767464 | AVP | c.120+252G>A (n.120+252G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3084303C>G | CA2346406046 | AVP | c.120+252G>C (n.120+252G>C) | dbSNP |
| 20 | g.3084303C>T | CA14767464 | AVP | c.120+252G>A (n.120+252G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |