| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000337907 |
| Start |
8358464:8358465(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4070dupC |
| AA Mutation |
p.Thr1358AspfsTer37(p.T1358Dfs*37) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000337907 |
| Start |
8359809:8359814(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs147985313
|
| CDS Mutation |
c.3568_3573delAAGGAG |
| AA Mutation |
p.Lys1190_Glu1191del(p.K1190_E1191del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RERE
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337907 |
| Start |
8361376:8361376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2131A>C |
| AA Mutation |
p.Thr711Pro(p.T711P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337907 |
| Start |
8358577:8358577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776859529
|
| CDS Mutation |
c.3958C>T |
| AA Mutation |
p.Arg1320Trp(p.R1320W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337907 |
| Start |
8541305:8541305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.739A>G |
| AA Mutation |
p.Ile247Val(p.I247V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337907 |
| Start |
8358516:8358516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4019C>A |
| AA Mutation |
p.Ala1340Asp(p.A1340D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000337907 |
| Start |
8361374:8361374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2133G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|