| Mutation ID |
11 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000229416 |
| Start |
53544495:53544495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.150+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000229416 |
| Start |
53505497:53505497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1291-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GCLC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229416 |
| Start |
53514324:53514324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.633G>T |
| AA Mutation |
p.Lys211Asn(p.K211N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000229416 |
| Start |
53514258:53514258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758688011
|
| CDS Mutation |
c.699G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000229416 |
| Start |
53514485:53514485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.573A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|