| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.135645230T>C | CA15532270 | NUP205 | c.5683+212T>C (n.5683+212T>C) n.890+212T>C c.1405+252T>C c.120+212T>C n.3961+212T>C c.4609+212T>C (n.4609+212T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135645230T= | CA2580754219 | NUP205 | c.5683+212T= (n.5683+212T=) n.890+212T= c.1405+252T= c.120+212T= n.3961+212T= c.4609+212T= (n.4609+212T=) | dbSNP |