| Mutation ID |
30 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357599 |
| Start |
122928594:122928594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753696390
|
| CDS Mutation |
c.559C>T |
| AA Mutation |
p.Arg187Ter(p.R187*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000357599 |
| Start |
122948701:122948710(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.125-1_133delGGTCTTCTCC |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SEMA5B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357599 |
| Start |
122915601:122915601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1827T>G |
| AA Mutation |
p.Asp609Glu(p.D609E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357599 |
| Start |
122915618:122915618(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757738307
|
| CDS Mutation |
c.1810C>T |
| AA Mutation |
p.Arg604Trp(p.R604W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357599 |
| Start |
122910982:122910982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3155C>T |
| AA Mutation |
p.Thr1052Ile(p.T1052I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357599 |
| Start |
122912935:122912935(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2633G>T |
| AA Mutation |
p.Arg878Ile(p.R878I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357599 |
| Start |
122915823:122915823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs557492984
|
| CDS Mutation |
c.1756G>A |
| AA Mutation |
p.Glu586Lys(p.E586K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357599 |
| Start |
122913944:122913944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753675618
|
| CDS Mutation |
c.2046C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357599 |
| Start |
122926667:122926667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201263780
|
| CDS Mutation |
c.861C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|