| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000349693 |
| Start |
98136659:98136659(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1195delA |
| AA Mutation |
p.Ile399LeufsTer23(p.I399Lfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000349693 |
| Start |
98128475:98128475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374710242
|
| CDS Mutation |
c.421C>T |
| AA Mutation |
p.Arg141Ter(p.R141*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349693 |
| Start |
98130213:98130213(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148502433
|
| CDS Mutation |
c.722G>A |
| AA Mutation |
p.Arg241Gln(p.R241Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349693 |
| Start |
98136671:98136671(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140243288
|
| CDS Mutation |
c.1201G>A |
| AA Mutation |
p.Gly401Ser(p.G401S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349693 |
| Start |
98156394:98156394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2402G>A |
| AA Mutation |
p.Ser801Asn(p.S801N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349693 |
| Start |
98157899:98157899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2703T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349693 |
| Start |
98148847:98148847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1743G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000349693 |
| Start |
98157649:98157649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2453G>A |
| AA Mutation |
p.Trp818Ter(p.W818*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|