| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160041644G>A | CA118813 | KCNJ10 | c.671+190C>T n.95-2296C>T c.487+402C>T (n.487+402C>T) c.889C>T (p.Arg297Cys) c.611C>T c.669+190C>T (n.669+190C>T) c.124+190C>T n.462+190C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.160041644G= | CA1141581119 | KCNJ10 | c.671+190C= n.95-2296C= c.487+402C= (n.487+402C=) c.889C= (p.Arg297=) c.611C= c.669+190C= (n.669+190C=) c.124+190C= n.462+190C= | dbSNP |
| 1 | g.160041644G>C | CA343224072 | KCNJ10 | c.671+190C>G n.95-2296C>G c.487+402C>G (n.487+402C>G) c.889C>G (p.Arg297Gly) c.611C>G c.669+190C>G (n.669+190C>G) c.124+190C>G n.462+190C>G | dbSNP |