| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135535750A>C | CA128518026 | NEUROG1,SLC25A48 | n.364+25994A>C c.-60T>G (n.-60T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135535750A>G | CA2581527326 | NEUROG1,SLC25A48 | n.364+25994A>G c.-60T>C (n.-60T>C) | dbSNP gnomAD v4 |
| 5 | g.135535750A= | CA1584564572 | NEUROG1,SLC25A48 | n.364+25994A= c.-60T= (n.-60T=) | dbSNP |