| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.15524590_15524591insCCCGCACTGACCTCACGTCCCCGCACTGACCTCACGTC | CA521287080 | CASP9 | c.-118+13_-118+14insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA c.-118+282_-118+283insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA (n.-118+282_-118+283insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA) c.-239+1621_-239+1622insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA (n.-239+1621_-239+1622insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA) c.-118+1621_-118+1622insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA (n.-118+1621_-118+1622insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15524572_15524590del | CA2695239926 | CASP9 | c.-123_-118+13del c.-118+264_-118+282del (n.-118+264_-118+282del) c.-239+1603_-239+1621del (n.-239+1603_-239+1621del) c.-118+1603_-118+1621del (n.-118+1603_-118+1621del) | dbSNP |
| 1 | g.15524572_15524590dup | CA18251107 | CASP9 | c.-123_-118+13dup c.-118+264_-118+282dup (n.-118+264_-118+282dup) c.-239+1603_-239+1621dup (n.-239+1603_-239+1621dup) c.-118+1603_-118+1621dup (n.-118+1603_-118+1621dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |