| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160041491G>T | CA343222436 | KCNJ10 | c.671+343C>A n.95-2143C>A c.487+555C>A (n.487+555C>A) c.1042C>A (p.Arg348Ser) c.764C>A c.669+343C>A (n.669+343C>A) c.124+343C>A n.462+343C>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.160041491G>A | CA254188 | KCNJ10 | c.671+343C>T n.95-2143C>T c.487+555C>T (n.487+555C>T) c.1042C>T (p.Arg348Cys) c.764C>T c.669+343C>T (n.669+343C>T) c.124+343C>T n.462+343C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.160041491G>C | CA343222439 | KCNJ10 | c.671+343C>G n.95-2143C>G c.487+555C>G (n.487+555C>G) c.1042C>G (p.Arg348Gly) c.764C>G c.669+343C>G (n.669+343C>G) c.124+343C>G n.462+343C>G | ClinVar dbSNP gnomAD v4 |