| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372582 |
| Start |
105749078:105749079(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1170dupT |
| AA Mutation |
p.Gly391TrpfsTer3(p.G391Wfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000372582 |
| Start |
105755176:105755176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1193-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IL1RAPL2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372582 |
| Start |
105267518:105267518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.674G>A |
| AA Mutation |
p.Arg225Gln(p.R225Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372582 |
| Start |
105767540:105767540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367966545
|
| CDS Mutation |
c.1940C>T |
| AA Mutation |
p.Thr647Met(p.T647M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372582 |
| Start |
105755220:105755220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1236C>A |
| AA Mutation |
p.Asp412Glu(p.D412E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372582 |
| Start |
105195627:105195627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.235A>C |
| AA Mutation |
p.Asn79His(p.N79H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372582 |
| Start |
105749070:105749070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372925400
|
| CDS Mutation |
c.1159A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372582 |
| Start |
105740624:105740624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752774929
|
| CDS Mutation |
c.981G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372582 |
| Start |
105740649:105740649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1006C>T |
| AA Mutation |
p.Arg336Ter(p.R336*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000372582 |
| Start |
105748959:105748959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1049-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|