| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143281925A>G | CA3486682 | NR3C1 | c.2298T>C (p.Asn766=) c.2205T>C (p.Asn735=) c.2301T>C (p.Asn767=) c.2181+643T>C (n.2181+643T>C) c.2220T>C (p.Asn740=) c.2043T>C (p.Asn681=) c.2031T>C (p.Asn677=) c.2007T>C (p.Asn669=) c.1353T>C (p.Asn451=) c.1308T>C (p.Asn436=) c.1293T>C (p.Asn431=) c.1107T>C (p.Asn369=) n.656-2774A>G n.1221T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.143281925A= | CA1630834408 | NR3C1 | c.2298T= (p.Asn766=) c.2205T= (p.Asn735=) c.2301T= (p.Asn767=) c.2181+643T= (n.2181+643T=) c.2220T= (p.Asn740=) c.2043T= (p.Asn681=) c.2031T= (p.Asn677=) c.2007T= (p.Asn669=) c.1353T= (p.Asn451=) c.1308T= (p.Asn436=) c.1293T= (p.Asn431=) c.1107T= (p.Asn369=) n.656-2774A= n.1221T= | dbSNP |