| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000238256 |
| Start |
113178722:113178722(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs774060142
|
| CDS Mutation |
c.1994delA |
| AA Mutation |
p.Lys665ArgfsTer9(p.K665Rfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000238256 |
| Start |
113173451:113173451(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2532+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FKBP15
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000238256 |
| Start |
113169627:113169627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768441449
|
| CDS Mutation |
c.3082G>A |
| AA Mutation |
p.Glu1028Lys(p.E1028K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000238256 |
| Start |
113183760:113183760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199849054
|
| CDS Mutation |
c.1802G>A |
| AA Mutation |
p.Arg601Gln(p.R601Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000238256 |
| Start |
113184325:113184325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1683C>A |
| AA Mutation |
p.Ser561Arg(p.S561R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000238256 |
| Start |
113206513:113206513(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.320G>A |
| AA Mutation |
p.Arg107Lys(p.R107K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000238256 |
| Start |
113174459:113174459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751853496
|
| CDS Mutation |
c.2348G>A |
| AA Mutation |
p.Arg783Gln(p.R783Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000238256 |
| Start |
113186274:113186274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749555461
|
| CDS Mutation |
c.1473G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|