| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000413384 |
| Start |
151066974:151066974(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.952delC |
| AA Mutation |
p.His318ThrfsTer10(p.H318Tfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000413384 |
| Start |
151064677:151064677(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.373delG |
| AA Mutation |
p.Glu125ArgfsTer120(p.E125Rfs*120) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC4A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000413384 |
| Start |
151071545:151071545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200122092
|
| CDS Mutation |
c.2131G>A |
| AA Mutation |
p.Ala711Thr(p.A711T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000413384 |
| Start |
151064531:151064531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.223C>T |
| AA Mutation |
p.Arg75Cys(p.R75C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000413384 |
| Start |
151072055:151072055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372791857
|
| CDS Mutation |
c.2454C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000413384 |
| Start |
151071461:151071461(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2052delG |
| AA Mutation |
p.Leu685Ter(p.L685*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|