| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28711986C>T | CA117644 | CHEK2 | c.624G>A (n.624G>A) c.715G>A (p.Glu239Lys) c.514G>A (p.Glu172Lys) c.52G>A (p.Glu18Lys) c.55G>A (p.Glu19Lys) n.267G>A c.844G>A (p.Glu282Lys) c.442G>A (p.Glu148Lys) c.*205G>A (n.*205G>A) c.*440G>A (n.*440G>A) c.808G>A (p.Glu270Lys) c.186G>A (n.186G>A) c.605G>A (n.605G>A) n.272G>A c.235G>A (p.Glu79Lys) c.172G>A (p.Glu58Lys) c.874G>A (p.Glu292Lys) c.643G>A (p.Glu215Lys) c.544G>A (p.Glu182Lys) n.936G>A n.931G>A c.268G>A (p.Glu90Lys) c.838G>A (p.Glu280Lys) c.745G>A (p.Glu249Lys) n.947G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28711986C>A | CA117642 | CHEK2 | c.624G>T (n.624G>T) c.715G>T (p.Glu239Ter) c.514G>T (p.Glu172Ter) c.52G>T (p.Glu18Ter) c.55G>T (p.Glu19Ter) n.267G>T c.844G>T (p.Glu282Ter) c.442G>T (p.Glu148Ter) c.*205G>T (n.*205G>T) c.*440G>T (n.*440G>T) c.808G>T (p.Glu270Ter) c.186G>T (n.186G>T) c.605G>T (n.605G>T) n.272G>T c.235G>T (p.Glu79Ter) c.172G>T (p.Glu58Ter) c.874G>T (p.Glu292Ter) c.643G>T (p.Glu215Ter) c.544G>T (p.Glu182Ter) n.936G>T n.931G>T c.268G>T (p.Glu90Ter) c.838G>T (p.Glu280Ter) c.745G>T (p.Glu249Ter) n.947G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28711986C>G | CA411103385 | CHEK2 | c.624G>C (n.624G>C) c.715G>C (p.Glu239Gln) c.514G>C (p.Glu172Gln) c.52G>C (p.Glu18Gln) c.55G>C (p.Glu19Gln) n.267G>C c.844G>C (p.Glu282Gln) c.442G>C (p.Glu148Gln) c.*205G>C (n.*205G>C) c.*440G>C (n.*440G>C) c.808G>C (p.Glu270Gln) c.186G>C (n.186G>C) c.605G>C (n.605G>C) n.272G>C c.235G>C (p.Glu79Gln) c.172G>C (p.Glu58Gln) c.874G>C (p.Glu292Gln) c.643G>C (p.Glu215Gln) c.544G>C (p.Glu182Gln) n.936G>C n.931G>C c.268G>C (p.Glu90Gln) c.838G>C (p.Glu280Gln) c.745G>C (p.Glu249Gln) n.947G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |