| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369489 |
| Start |
116536039:116536040(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.553dupA |
| AA Mutation |
p.Ile185AsnfsTer6(p.I185Nfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000369489 |
| Start |
116521984:116521984(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.629-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CD58
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369489 |
| Start |
116521936:116521936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.676A>C |
| AA Mutation |
p.Ile226Leu(p.I226L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369489 |
| Start |
116536139:116536139(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.454C>T |
| AA Mutation |
p.Arg152Ter(p.R152*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369489 |
| Start |
116521977:116521977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.635C>A |
| AA Mutation |
p.Ser212Ter(p.S212*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|