| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74893302A>T | CA16041749 | MPI | c.652A>T (p.Lys218Ter) c.487+500A>T (n.487+500A>T) c.502A>T (p.Lys168Ter) c.*548A>T (n.*548A>T) c.592A>T (p.Lys198Ter) c.255+1813A>T (n.255+1813A>T) c.337+500A>T (n.337+500A>T) c.448+500A>T (n.448+500A>T) c.640A>T (p.Lys214Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74893302A= | CA2187897429 | MPI | c.652A= (p.Lys218=) c.487+500A= (n.487+500A=) c.502A= (p.Lys168=) c.*548A= (n.*548A=) c.592A= (p.Lys198=) c.255+1813A= (n.255+1813A=) c.337+500A= (n.337+500A=) c.448+500A= (n.448+500A=) c.640A= (p.Lys214=) | dbSNP |