| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244043 |
| Start |
49513221:49513221(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1065delC |
| AA Mutation |
p.Phe356SerfsTer34(p.F356Sfs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000244043 |
| Start |
49513100:49513100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1186G>T |
| AA Mutation |
p.Glu396Ter(p.E396*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTGIS
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000244043 |
| Start |
49513153:49513153(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779113385
|
| CDS Mutation |
c.1133G>A |
| AA Mutation |
p.Arg378Gln(p.R378Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000244043 |
| Start |
49539621:49539621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747873847
|
| CDS Mutation |
c.622C>T |
| AA Mutation |
p.Arg208Cys(p.R208C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000244043 |
| Start |
49550081:49550081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777991700
|
| CDS Mutation |
c.183C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|