| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89284213C>A | CA10603429 | ANKRD11 | c.2329G>T (p.Glu777Ter) c.*2132G>T (n.*2132G>T) c.1954G>T (p.Glu652Ter) c.744+4315G>T (n.744+4315G>T) c.151+4315G>T c.2227G>T (p.Glu743Ter) c.2032G>T (p.Glu678Ter) c.2200G>T (p.Glu734Ter) | ClinVar dbSNP |
| 16 | g.89284213C= | CA2241602359 | ANKRD11 | c.2329G= (p.Glu777=) c.*2132G= (n.*2132G=) c.1954G= (p.Glu652=) c.744+4315G= (n.744+4315G=) c.151+4315G= c.2227G= (p.Glu743=) c.2032G= (p.Glu678=) c.2200G= (p.Glu734=) | dbSNP |
| 16 | g.89284213C>G | CA397162672 | ANKRD11 | c.2329G>C (p.Glu777Gln) c.*2132G>C (n.*2132G>C) c.1954G>C (p.Glu652Gln) c.744+4315G>C (n.744+4315G>C) c.151+4315G>C c.2227G>C (p.Glu743Gln) c.2032G>C (p.Glu678Gln) c.2200G>C (p.Glu734Gln) | dbSNP gnomAD v4 COSMIC |