| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45332466T>G | CA16617163 | MUTYH | c.245A>C (p.Asn82Thr) c.662A>C (p.Asn221Thr) c.629A>C (p.Asn210Thr) c.647A>C (p.Asn216Thr) c.671A>C (p.Asn224Thr) c.252A>C (p.Gln84His) c.*541A>C (n.*541A>C) c.713A>C (p.Asn238Thr) c.704A>C (p.Asn235Thr) c.639A>C (p.Gln213His) c.*368A>C (n.*368A>C) c.1217A>C (p.Asn406Thr) c.597A>C (p.Gln199His) c.*602A>C (n.*602A>C) c.588A>C (p.Gln196His) c.*326A>C (n.*326A>C) c.657A>C (n.657A>C) c.632A>C (p.Asn211Thr) c.674A>C (p.Asn225Thr) n.320A>C c.23A>C (p.Asn8Thr) c.*552A>C (n.*552A>C) c.516A>C (p.Gln172His) c.*442A>C (n.*442A>C) n.616A>C c.187+297A>C (n.187+297A>C) c.*280A>C (n.*280A>C) c.115+1925A>C (n.115+1925A>C) c.258A>C (p.Gln86His) c.353A>C (p.Asn118Thr) c.689A>C (p.Asn230Thr) c.251A>C (p.Asn84Thr) c.242A>C (p.Asn81Thr) c.257A>C (p.Asn86Thr) n.760A>C c.284A>C (p.Asn95Thr) n.887A>C n.701A>C c.113A>C (p.Asn38Thr) n.674A>C n.486A>C n.666A>C n.1201A>C n.774A>C n.857A>C n.706A>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.45332466T>C | CA16042398 | MUTYH | c.245A>G (p.Asn82Ser) c.662A>G (p.Asn221Ser) c.629A>G (p.Asn210Ser) c.647A>G (p.Asn216Ser) c.671A>G (p.Asn224Ser) c.252A>G (p.Gln84=) c.*541A>G (n.*541A>G) c.713A>G (p.Asn238Ser) c.704A>G (p.Asn235Ser) c.639A>G (p.Gln213=) c.*368A>G (n.*368A>G) c.1217A>G (p.Asn406Ser) c.597A>G (p.Gln199=) c.*602A>G (n.*602A>G) c.588A>G (p.Gln196=) c.*326A>G (n.*326A>G) c.657A>G (n.657A>G) c.632A>G (p.Asn211Ser) c.674A>G (p.Asn225Ser) n.320A>G c.23A>G (p.Asn8Ser) c.*552A>G (n.*552A>G) c.516A>G (p.Gln172=) c.*442A>G (n.*442A>G) n.616A>G c.187+297A>G (n.187+297A>G) c.*280A>G (n.*280A>G) c.115+1925A>G (n.115+1925A>G) c.258A>G (p.Gln86=) c.353A>G (p.Asn118Ser) c.689A>G (p.Asn230Ser) c.251A>G (p.Asn84Ser) c.242A>G (p.Asn81Ser) c.257A>G (p.Asn86Ser) n.760A>G c.284A>G (p.Asn95Ser) n.887A>G n.701A>G c.113A>G (p.Asn38Ser) n.674A>G n.486A>G n.666A>G n.1201A>G n.774A>G n.857A>G n.706A>G | ClinVar dbSNP gnomAD v4 |