| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380887 |
| Start |
76482717:76482717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.745C>T |
| AA Mutation |
p.Arg249Ter(p.R249*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000380887 |
| Start |
76499905:76499906(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1339_1340insACG |
| AA Mutation |
p.Met447delinsAsnVal(p.M447delinsNV) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ESRRB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380887 |
| Start |
76439544:76439544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.191G>A |
| AA Mutation |
p.Gly64Asp(p.G64D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380887 |
| Start |
76462577:76462577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376901347
|
| CDS Mutation |
c.430G>A |
| AA Mutation |
p.Glu144Lys(p.E144K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380887 |
| Start |
76482063:76482063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370122804
|
| CDS Mutation |
c.562C>T |
| AA Mutation |
p.Arg188Trp(p.R188W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380887 |
| Start |
76439596:76439596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371102435
|
| CDS Mutation |
c.243C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380887 |
| Start |
76482657:76482657(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.689delC |
| AA Mutation |
p.Pro230LeufsTer11(p.P230Lfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|