| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000306666 |
| Start |
71047474:71047474(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.104delG |
| AA Mutation |
p.Gly35AlafsTer101(p.G35Afs*101) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356595 |
| Start |
70952972:70952972(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1192G>T |
| AA Mutation |
p.Glu398Ter(p.E398*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTGER3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356595 |
| Start |
70952957:70952957(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs568020055
|
| CDS Mutation |
c.1207G>A |
| AA Mutation |
p.Val403Met(p.V403M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356595 |
| Start |
70953785:70953785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766481804
|
| CDS Mutation |
c.1082G>T |
| AA Mutation |
p.Arg361Ile(p.R361I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000306666 |
| Start |
71012385:71012385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.997C>A |
| AA Mutation |
p.Arg333Ser(p.R333S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000306666 |
| Start |
71012412:71012412(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.970G>T |
| AA Mutation |
p.Glu324Ter(p.E324*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|