Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112839606C>G | CA16030129 | APC | c.3677C>G (n.3677C>G) c.4066C>G (p.Gln1356Glu) c.*4018C>G (n.*4018C>G) c.3958C>G (p.Gln1320Glu) c.4012C>G (p.Gln1338Glu) c.2365C>G c.*3334C>G (n.*3334C>G) c.230+10634C>G c.4042C>G (p.Gln1348Glu) c.3937C>G (p.Gln1313Glu) c.3928C>G (p.Gln1310Glu) c.3889C>G (p.Gln1297Glu) c.3835C>G (p.Gln1279Glu) c.3739C>G (p.Gln1247Glu) c.3709C>G (p.Gln1237Glu) c.3634C>G (p.Gln1212Glu) c.3532C>G (p.Gln1178Glu) c.3163C>G (p.Gln1055Glu) | ClinVar dbSNP gnomAD v4 |
5 | g.112839606C>T | CA008865 | APC | c.3677C>T (n.3677C>T) c.4066C>T (p.Gln1356Ter) c.*4018C>T (n.*4018C>T) c.3958C>T (p.Gln1320Ter) c.4012C>T (p.Gln1338Ter) c.2365C>T c.*3334C>T (n.*3334C>T) c.230+10634C>T c.4042C>T (p.Gln1348Ter) c.3937C>T (p.Gln1313Ter) c.3928C>T (p.Gln1310Ter) c.3889C>T (p.Gln1297Ter) c.3835C>T (p.Gln1279Ter) c.3739C>T (p.Gln1247Ter) c.3709C>T (p.Gln1237Ter) c.3634C>T (p.Gln1212Ter) c.3532C>T (p.Gln1178Ter) c.3163C>T (p.Gln1055Ter) | ClinVar dbSNP gnomAD v2 COSMIC |