| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.113104244T>G | CA360630993 | MCC | c.569A>C (p.Lys190Thr) c.1139A>C (p.Lys380Thr) n.259A>C n.382A>C n.593A>C n.576A>C c.380A>C (p.Lys127Thr) c.539A>C (p.Lys180Thr) | dbSNP |
| 5 | g.113104244T>A | CA360630992 | MCC | c.569A>T (p.Lys190Met) c.1139A>T (p.Lys380Met) n.259A>T n.382A>T n.593A>T n.576A>T c.380A>T (p.Lys127Met) c.539A>T (p.Lys180Met) | dbSNP |
| 5 | g.113104244T>C | CA3370433 | MCC | c.569A>G (p.Lys190Arg) c.1139A>G (p.Lys380Arg) n.259A>G n.382A>G n.593A>G n.576A>G c.380A>G (p.Lys127Arg) c.539A>G (p.Lys180Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113104244T= | CA1573656139 | MCC | c.569A= (p.Lys190=) c.1139A= (p.Lys380=) n.259A= n.382A= n.593A= n.576A= c.380A= (p.Lys127=) c.539A= (p.Lys180=) | dbSNP |