| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367821 |
| Start |
168305129:168305129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145436332
|
| CDS Mutation |
c.849G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367821 |
| Start |
168312782:168312782(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1127delG |
| AA Mutation |
p.Ser376ThrfsTer13(p.S376Tfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TBX19
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367821 |
| Start |
168293208:168293208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.533A>G |
| AA Mutation |
p.His178Arg(p.H178R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367821 |
| Start |
168293241:168293241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.566C>T |
| AA Mutation |
p.Thr189Ile(p.T189I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367821 |
| Start |
168305038:168305038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.758G>A |
| AA Mutation |
p.Gly253Glu(p.G253E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367821 |
| Start |
168312942:168312942(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370679374
|
| CDS Mutation |
c.1287C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000367821 |
| Start |
168293143:168293143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762524150
|
| CDS Mutation |
c.469-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|