| Mutation ID |
16 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000381362 |
| Start |
20318250:20318251(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1196_1197insATAATTCCA |
| AA Mutation |
p.Arg399_Asn400insTer(p.R399_N400ins*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000381362 |
| Start |
20320380:20320381(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.748dupG |
| AA Mutation |
p.Glu250GlyfsTer33(p.E250Gfs*33) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381362 |
| Start |
20324229:20324229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140222432
|
| CDS Mutation |
c.122C>T |
| AA Mutation |
p.Ser41Leu(p.S41L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381362 |
| Start |
20324091:20324091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.260A>T |
| AA Mutation |
p.Lys87Ile(p.K87I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381362 |
| Start |
20315998:20315998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1468G>A |
| AA Mutation |
p.Asp490Asn(p.D490N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000381362 |
| Start |
20324081:20324081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.270C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000381362 |
| Start |
20319769:20319769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.868-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|