| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.184792231A>G | CA15080822 | NIBAN1 | c.*2746T>C (n.*2746T>C) c.261-1166T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.184792231A>T | CA1212451496 | NIBAN1 | c.*2746T>A (n.*2746T>A) c.261-1166T>A | dbSNP |
| 1 | g.184792231A= | CA1139823564 | NIBAN1 | c.*2746T= (n.*2746T=) c.261-1166T= | dbSNP |