| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71472691T>C | CA13554203 | NADSYN1 | c.459+191T>C (n.459+191T>C) c.359+191T>C c.*204+191T>C (n.*204+191T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71472691T>G | CA224303626 | NADSYN1 | c.459+191T>G (n.459+191T>G) c.359+191T>G c.*204+191T>G (n.*204+191T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71472691T>A | CA679876927 | NADSYN1 | c.459+191T>A (n.459+191T>A) c.359+191T>A c.*204+191T>A (n.*204+191T>A) | dbSNP |