| Mutation ID |
27 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81758806:81758806(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.255-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81757188:81757188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.482+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HGF
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81752212:81752212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776090604
|
| CDS Mutation |
c.533G>A |
| AA Mutation |
p.Arg178Gln(p.R178Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81705664:81705664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1847G>T |
| AA Mutation |
p.Gly616Val(p.G616V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81762855:81762855(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765830204
|
| CDS Mutation |
c.106A>G |
| AA Mutation |
p.Arg36Gly(p.R36G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81717237:81717237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1400C>A |
| AA Mutation |
p.Ser467Tyr(p.S467Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81743464:81743464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752123971
|
| CDS Mutation |
c.754G>A |
| AA Mutation |
p.Asp252Asn(p.D252N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000222390 |
| Start |
81707309:81707309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs527951814
|
| CDS Mutation |
c.1597C>T |
| AA Mutation |
p.Arg533Ter(p.R533*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81706429:81706429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1617-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|