| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28694034G>T | CA411093910 | CHEK2 | c.*194C>A (n.*194C>A) c.1258C>A (p.Gln420Lys) c.1459C>A (p.Gln487Lys) c.796C>A (p.Gln266Lys) c.799C>A (p.Gln267Lys) n.1011C>A c.1372C>A (p.Gln458Lys) c.1588C>A (p.Gln530Lys) c.1186C>A (p.Gln396Lys) c.*949C>A (n.*949C>A) c.1368C>A (n.1368C>A) c.1397C>A (n.1397C>A) c.657C>A c.1349C>A (n.1349C>A) c.264-4819C>A c.979C>A (p.Gln327Lys) c.916C>A (p.Gln306Lys) c.1618C>A (p.Gln540Lys) c.1531C>A (p.Gln511Lys) c.1387C>A (p.Gln463Lys) c.1288C>A (p.Gln430Lys) n.1618C>A c.1012C>A (p.Gln338Lys) c.1582C>A (p.Gln528Lys) c.1489C>A (p.Gln497Lys) c.1402C>A (p.Gln468Lys) n.1629C>A | dbSNP COSMIC COSMIC |
| 22 | g.28694034G>A | CA10581026 | CHEK2 | c.*194C>T (n.*194C>T) c.1258C>T (p.Gln420Ter) c.1459C>T (p.Gln487Ter) c.796C>T (p.Gln266Ter) c.799C>T (p.Gln267Ter) n.1011C>T c.1372C>T (p.Gln458Ter) c.1588C>T (p.Gln530Ter) c.1186C>T (p.Gln396Ter) c.*949C>T (n.*949C>T) c.1368C>T (n.1368C>T) c.1397C>T (n.1397C>T) c.657C>T c.1349C>T (n.1349C>T) c.264-4819C>T c.979C>T (p.Gln327Ter) c.916C>T (p.Gln306Ter) c.1618C>T (p.Gln540Ter) c.1531C>T (p.Gln511Ter) c.1387C>T (p.Gln463Ter) c.1288C>T (p.Gln430Ter) n.1618C>T c.1012C>T (p.Gln338Ter) c.1582C>T (p.Gln528Ter) c.1489C>T (p.Gln497Ter) c.1402C>T (p.Gln468Ter) n.1629C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.28694034G>C | CA411093909 | CHEK2 | c.*194C>G (n.*194C>G) c.1258C>G (p.Gln420Glu) c.1459C>G (p.Gln487Glu) c.796C>G (p.Gln266Glu) c.799C>G (p.Gln267Glu) n.1011C>G c.1372C>G (p.Gln458Glu) c.1588C>G (p.Gln530Glu) c.1186C>G (p.Gln396Glu) c.*949C>G (n.*949C>G) c.1368C>G (n.1368C>G) c.1397C>G (n.1397C>G) c.657C>G c.1349C>G (n.1349C>G) c.264-4819C>G c.979C>G (p.Gln327Glu) c.916C>G (p.Gln306Glu) c.1618C>G (p.Gln540Glu) c.1531C>G (p.Gln511Glu) c.1387C>G (p.Gln463Glu) c.1288C>G (p.Gln430Glu) n.1618C>G c.1012C>G (p.Gln338Glu) c.1582C>G (p.Gln528Glu) c.1489C>G (p.Gln497Glu) c.1402C>G (p.Gln468Glu) n.1629C>G | dbSNP |