| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000565858 |
| Start |
68230966:68230966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756594868
|
| CDS Mutation |
c.1803G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000565858 |
| Start |
68230548:68230549(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1934dupC |
| AA Mutation |
p.Val646SerfsTer57(p.V646Sfs*57) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ESRP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000565858 |
| Start |
68230953:68230953(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1816C>A |
| AA Mutation |
p.Pro606Thr(p.P606T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000565858 |
| Start |
68231499:68231499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1525A>G |
| AA Mutation |
p.Met509Val(p.M509V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000565858 |
| Start |
68232458:68232458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs570243647
|
| CDS Mutation |
c.897C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000565858 |
| Start |
68231846:68231846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1285C>T |
| AA Mutation |
p.Arg429Ter(p.R429*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000565858 |
| Start |
68231241:68231241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1678C>T |
| AA Mutation |
p.Arg560Ter(p.R560*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|