| Mutation ID |
28 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000382496 |
| Start |
9337732:9337732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.205G>T |
| AA Mutation |
p.Glu69Ter(p.E69*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000382496 |
| Start |
9202115:9202116(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.771_772insTTCAAGTTACATACAC |
| AA Mutation |
p.Ile258PhefsTer47(p.I258Ffs*47) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SEMA5A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382496 |
| Start |
9054101:9054101(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140400463
|
| CDS Mutation |
c.2675C>T |
| AA Mutation |
p.Thr892Met(p.T892M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382496 |
| Start |
9224700:9224700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201612297
|
| CDS Mutation |
c.620C>T |
| AA Mutation |
p.Ala207Val(p.A207V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382496 |
| Start |
9237859:9237859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.302A>C |
| AA Mutation |
p.Lys101Thr(p.K101T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382496 |
| Start |
9122669:9122669(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201518183
|
| CDS Mutation |
c.1768G>A |
| AA Mutation |
p.Ala590Thr(p.A590T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000382496 |
| Start |
9054106:9054106(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2670C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000382496 |
| Start |
9154553:9154553(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377487102
|
| CDS Mutation |
c.1416C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|