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 |