| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.73572357C>T | CA277038 | ALMS1 | c.10099C>T (p.Gln3367Ter) c.3185C>T c.7380C>T c.4546C>T (p.Gln1516Ter) c.7425C>T c.10480C>T (p.Gln3494Ter) c.634C>T (p.Gln212Ter) c.1836C>T c.1577C>T c.3971C>T (n.3971C>T) c.10354C>T (p.Gln3452Ter) n.4283C>T c.10483C>T (p.Gln3495Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.73572357C>G | CA1715010 | ALMS1 | c.10099C>G (p.Gln3367Glu) c.3185C>G c.7380C>G c.4546C>G (p.Gln1516Glu) c.7425C>G c.10480C>G (p.Gln3494Glu) c.634C>G (p.Gln212Glu) c.1836C>G c.1577C>G c.3971C>G (n.3971C>G) c.10354C>G (p.Gln3452Glu) n.4283C>G c.10483C>G (p.Gln3495Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |