| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355832 |
| Start |
49524458:49524458(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.972delA |
| AA Mutation |
p.Glu325ArgfsTer4(p.E325Rfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355832 |
| Start |
49458838:49458838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4459A>T |
| AA Mutation |
p.Lys1487Ter(p.K1487*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ERCC6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355832 |
| Start |
49459087:49459087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778871384
|
| CDS Mutation |
c.4210C>T |
| AA Mutation |
p.Arg1404Cys(p.R1404C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355832 |
| Start |
49528512:49528512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.557A>G |
| AA Mutation |
p.Lys186Arg(p.K186R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355832 |
| Start |
49470683:49470683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3277G>T |
| AA Mutation |
p.Asp1093Tyr(p.D1093Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355832 |
| Start |
49528510:49528510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.559A>G |
| AA Mutation |
p.Lys187Glu(p.K187E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355832 |
| Start |
49458836:49458836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4461A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355832 |
| Start |
49471042:49471042(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3003C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355832 |
| Start |
49483384:49483384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767247987
|
| CDS Mutation |
c.1954C>T |
| AA Mutation |
p.Arg652Ter(p.R652*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|