| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.73673773T>C | CA1715916 | ALMS1P1 | n.795-40T>C n.550-40T>C n.738-40T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.73673773T>G | CA1715917 | ALMS1P1 | n.795-40T>G n.550-40T>G n.738-40T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.73673773T= | CA1261072667 | ALMS1P1 | n.795-40T= n.550-40T= n.738-40T= | dbSNP |