| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370757 |
| Start |
78492792:78492792(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.49delC |
| AA Mutation |
p.Leu17PhefsTer18(p.L17Ffs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370757 |
| Start |
78493151:78493152(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.408_409insCTTCT |
| AA Mutation |
p.Val137LeufsTer18(p.V137Lfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTGFR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000370757 |
| Start |
78493539:78493539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.796C>A |
| AA Mutation |
p.Leu266Met(p.L266M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370757 |
| Start |
78492977:78492977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.234C>A |
| AA Mutation |
p.Phe78Leu(p.F78L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|