| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000306739 |
| Start |
81996474:81996474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774678478
|
| CDS Mutation |
c.561G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000306739 |
| Start |
81994820:81994820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.375-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ASPSCR1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000306739 |
| Start |
82009190:82009190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs558896726
|
| CDS Mutation |
c.1087C>T |
| AA Mutation |
p.Arg363Trp(p.R363W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000306739 |
| Start |
82009135:82009135(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1032C>A |
| AA Mutation |
p.Phe344Leu(p.F344L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000306739 |
| Start |
82009556:82009556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757210501
|
| CDS Mutation |
c.1159C>T |
| AA Mutation |
p.Arg387Cys(p.R387C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|