| Mutation ID |
15 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000228284 |
| Start |
108543153:108543153(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.782-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000228284 |
| Start |
108524315:108524315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2714+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SART3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228284 |
| Start |
108526440:108526440(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2029C>A |
| AA Mutation |
p.Pro677Thr(p.P677T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228284 |
| Start |
108530222:108530222(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1835A>C |
| AA Mutation |
p.Lys612Thr(p.K612T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000228284 |
| Start |
108526309:108526309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751321190
|
| CDS Mutation |
c.2160G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000228284 |
| Start |
108525559:108525560(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2371_2420dupGTGTTCAGGTACAGCACTTCCCTAGAGAAACACAAGCTGTTCATCTCAGG |
| AA Mutation |
p.Leu808CysfsTer8(p.L808Cfs*8) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000228284 |
| Start |
108525525:108525525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2455G>T |
| AA Mutation |
p.Glu819Ter(p.E819*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|