| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392132 |
| Start |
216127589:216127589(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.858delA |
| AA Mutation |
p.Glu287LysfsTer11(p.E287Kfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392132 |
| Start |
216141305:216141305(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1462delC |
| AA Mutation |
p.Gln488ArgfsTer29(p.Q488Rfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> XRCC5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392132 |
| Start |
216125939:216125939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760212422
|
| CDS Mutation |
c.706G>A |
| AA Mutation |
p.Val236Ile(p.V236I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392132 |
| Start |
216204391:216204391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772117253
|
| CDS Mutation |
c.2179G>A |
| AA Mutation |
p.Asp727Asn(p.D727N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392132 |
| Start |
216161986:216161986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1772G>A |
| AA Mutation |
p.Ser591Asn(p.S591N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392132 |
| Start |
216138122:216138122(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1285G>A |
| AA Mutation |
p.Asp429Asn(p.D429N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392132 |
| Start |
216127566:216127566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.829A>C |
| AA Mutation |
p.Thr277Pro(p.T277P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|