| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143399752T>C | CA126223 | NR3C1 | c.1088A>G (p.Asn363Ser) c.1010A>G (p.Asn337Ser) c.833A>G (p.Asn278Ser) c.821A>G (p.Asn274Ser) c.797A>G (p.Asn266Ser) c.143A>G (p.Asn48Ser) c.98A>G (p.Asn33Ser) c.83A>G (p.Asn28Ser) n.107+4624A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.143399752T>A | CA129264863 | NR3C1 | c.1088A>T (p.Asn363Ile) c.1010A>T (p.Asn337Ile) c.833A>T (p.Asn278Ile) c.821A>T (p.Asn274Ile) c.797A>T (p.Asn266Ile) c.143A>T (p.Asn48Ile) c.98A>T (p.Asn33Ile) c.83A>T (p.Asn28Ile) n.107+4624A>T | dbSNP |
| 5 | g.143399752T= | CA2580591101 | NR3C1 | c.1088A= (p.Asn363=) c.1010A= (p.Asn337=) c.833A= (p.Asn278=) c.821A= (p.Asn274=) c.797A= (p.Asn266=) c.143A= (p.Asn48=) c.98A= (p.Asn33=) c.83A= (p.Asn28=) n.107+4624A= | dbSNP |