| Mutation ID |
25 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000379747 |
| Start |
37579029:37579031(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs775016216
|
| CDS Mutation |
c.1882_1884delCTC |
| AA Mutation |
p.Leu628del(p.L628del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000379747 |
| Start |
37598724:37598724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3G>T |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POSTN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37584841:37584841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.983C>A |
| AA Mutation |
p.Thr328Lys(p.T328K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37579052:37579052(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1861A>G |
| AA Mutation |
p.Ile621Val(p.I621V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37579229:37579229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1791A>C |
| AA Mutation |
p.Glu597Asp(p.E597D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37587890:37587890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.538A>C |
| AA Mutation |
p.Lys180Gln(p.K180Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000379747 |
| Start |
37579294:37579294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1726G>T |
| AA Mutation |
p.Gly576Ter(p.G576*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37579227:37579227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1791+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|