| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371231 |
| Start |
57015167:57015168(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1258dupC |
| AA Mutation |
p.Leu420ProfsTer9(p.L420Pfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000371231 |
| Start |
57025980:57025980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201318657
|
| CDS Mutation |
c.885+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DAB1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371231 |
| Start |
57011177:57011177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1639G>C |
| AA Mutation |
p.Glu547Gln(p.E547Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371231 |
| Start |
57071536:57071536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.544C>G |
| AA Mutation |
p.Gln182Glu(p.Q182E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371231 |
| Start |
57014908:57014908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1518T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371231 |
| Start |
57015337:57015337(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1089T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371231 |
| Start |
57069374:57069374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.649G>T |
| AA Mutation |
p.Glu217Ter(p.E217*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|