| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000595090 |
| Start |
49010514:49010514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.690G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000595090 |
| Start |
49014583:49014583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758668870
|
| CDS Mutation |
c.1101G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RUVBL2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000595090 |
| Start |
49007024:49007024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761782658
|
| CDS Mutation |
c.272C>T |
| AA Mutation |
p.Ala91Val(p.A91V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000595090 |
| Start |
49009830:49009830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.517G>A |
| AA Mutation |
p.Asp173Asn(p.D173N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000595090 |
| Start |
49011309:49011309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1000C>T |
| AA Mutation |
p.Arg334Ter(p.R334*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|