| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232530131C>A | CA128063 | CHRND | c.812C>A (p.Pro271Gln) c.510-1221C>A (n.510-1221C>A) c.702C>A (p.Thr234=) c.*453C>A (n.*453C>A) c.767C>A (p.Pro256Gln) c.239-1221C>A (n.239-1221C>A) c.509C>A (p.Pro170Gln) c.-4294966730-1221C>A c.-4294966460C>A c.431C>A (p.Pro144Gln) | ClinVar dbSNP |
| 2 | g.232530131C>T | CA351001212 | CHRND | c.812C>T (p.Pro271Leu) c.510-1221C>T (n.510-1221C>T) c.702C>T (p.Thr234=) c.*453C>T (n.*453C>T) c.767C>T (p.Pro256Leu) c.239-1221C>T (n.239-1221C>T) c.509C>T (p.Pro170Leu) c.-4294966730-1221C>T c.-4294966460C>T c.431C>T (p.Pro144Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232530131C= | CA1335311271 | CHRND | c.812C= (p.Pro271=) c.510-1221C= (n.510-1221C=) c.702C= (p.Thr234=) c.*453C= (n.*453C=) c.767C= (p.Pro256=) c.239-1221C= (n.239-1221C=) c.509C= (p.Pro170=) c.-4294966730-1221C= c.-4294966460C= c.431C= (p.Pro144=) | dbSNP |