| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328827 |
| Start |
79690195:79690195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.50C>T |
| AA Mutation |
p.Thr17Ile(p.T17I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328827 |
| Start |
79596533:79596533(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.809delA |
| AA Mutation |
p.Lys270ArgfsTer10(p.K270Rfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PAWR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328827 |
| Start |
79594402:79594402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.863G>A |
| AA Mutation |
p.Arg288Lys(p.R288K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328827 |
| Start |
79594345:79594345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.920T>C |
| AA Mutation |
p.Ile307Thr(p.I307T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328827 |
| Start |
79596614:79596614(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768593781
|
| CDS Mutation |
c.728G>A |
| AA Mutation |
p.Arg243Gln(p.R243Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|