| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41717688G>C | CA406023811 | CEACAM5 | c.1192G>C (p.Glu398Gln) c.1189G>C (p.Glu397Gln) c.64+8893G>C (n.64+8893G>C) c.325-2242G>C c.424+7649G>C (n.424+7649G>C) c.658G>C (p.Glu220Gln) c.613-2430G>C (n.613-2430G>C) c.704-440G>C (n.704-440G>C) c.937G>C (p.Glu313Gln) | dbSNP |
| 19 | g.41717688G>T | CA658682977 | CEACAM5 | c.1192G>T (p.Glu398Ter) c.1189G>T (p.Glu397Ter) c.64+8893G>T (n.64+8893G>T) c.325-2242G>T c.424+7649G>T (n.424+7649G>T) c.658G>T (p.Glu220Ter) c.613-2430G>T (n.613-2430G>T) c.704-440G>T (n.704-440G>T) c.937G>T (p.Glu313Ter) | dbSNP |
| 19 | g.41717688G>A | CA308573552 | CEACAM5 | c.1192G>A (p.Glu398Lys) c.1189G>A (p.Glu397Lys) c.64+8893G>A (n.64+8893G>A) c.325-2242G>A c.424+7649G>A (n.424+7649G>A) c.658G>A (p.Glu220Lys) c.613-2430G>A (n.613-2430G>A) c.704-440G>A (n.704-440G>A) c.937G>A (p.Glu313Lys) | dbSNP gnomAD v3 gnomAD v4 |