| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.89341356A>T | CA115872 | SECISBP2 | c.1312A>T (p.Lys438Ter) c.1093A>T (p.Lys365Ter) c.703A>T (p.Lys235Ter) c.1108A>T (p.Lys370Ter) c.1309A>T (p.Lys437Ter) c.1195A>T (p.Lys399Ter) c.415A>T (p.Lys139Ter) c.1018A>T (p.Lys340Ter) c.994A>T (p.Lys332Ter) c.991A>T (p.Lys331Ter) n.1470A>T c.1198A>T (p.Lys400Ter) c.1105A>T (p.Lys369Ter) c.427A>T (p.Lys143Ter) c.1222A>T (p.Lys408Ter) c.976A>T (p.Lys326Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.89341356A>G | CA373987823 | SECISBP2 | c.1312A>G (p.Lys438Glu) c.1093A>G (p.Lys365Glu) c.703A>G (p.Lys235Glu) c.1108A>G (p.Lys370Glu) c.1309A>G (p.Lys437Glu) c.1195A>G (p.Lys399Glu) c.415A>G (p.Lys139Glu) c.1018A>G (p.Lys340Glu) c.994A>G (p.Lys332Glu) c.991A>G (p.Lys331Glu) n.1470A>G c.1198A>G (p.Lys400Glu) c.1105A>G (p.Lys369Glu) c.427A>G (p.Lys143Glu) c.1222A>G (p.Lys408Glu) c.976A>G (p.Lys326Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |