| Mutation ID |
8 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000355754 |
| Start |
89190286:89190287(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.948_949insAAAATGAGCTGATTGTACCTCATAGTGATCAGCAGAAGAGAATGCA |
| AA Mutation |
p.Ala317LysfsTer4(p.A317Kfs*4) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355754 |
| Start |
89185466:89185466(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1711C>T |
| AA Mutation |
p.Gln571Ter(p.Q571*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355754 |
| Start |
89190208:89190208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1027C>T |
| AA Mutation |
p.Gln343Ter(p.Q343*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GBP4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355754 |
| Start |
89185318:89185318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61746918
|
| CDS Mutation |
c.1859T>C |
| AA Mutation |
p.Val620Ala(p.V620A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355754 |
| Start |
89191305:89191305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.872C>T |
| AA Mutation |
p.Ala291Val(p.A291V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|