| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356444 |
| Start |
89379595:89379596(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1697dupT |
| AA Mutation |
p.Lys567GlnfsTer65(p.K567Qfs*65) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000356444 |
| Start |
89379180:89379181(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2112_2113insAGTTGTAGAAAAAGA |
| AA Mutation |
p.Thr704_Gly705insSerCysArgLysArg(p.T704_G705insSCRKR) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SEMA4D
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356444 |
| Start |
89387564:89387564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1152G>T |
| AA Mutation |
p.Leu384Phe(p.L384F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356444 |
| Start |
89381248:89381248(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762000415
|
| CDS Mutation |
c.1545G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356444 |
| Start |
89387537:89387537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765338663
|
| CDS Mutation |
c.1179C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000356444 |
| Start |
89393656:89393656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.415-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|