| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247225 |
| Start |
63686363:63686363(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1068delC |
| AA Mutation |
p.Ile357LeufsTer3(p.I357Lfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000247225 |
| Start |
63686224:63686224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201466945
|
| CDS Mutation |
c.1207C>T |
| AA Mutation |
p.Arg403Ter(p.R403*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SGPP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247225 |
| Start |
63686223:63686223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752176842
|
| CDS Mutation |
c.1208G>A |
| AA Mutation |
p.Arg403Gln(p.R403Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247225 |
| Start |
63686392:63686392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781255345
|
| CDS Mutation |
c.1039C>G |
| AA Mutation |
p.Leu347Val(p.L347V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247225 |
| Start |
63686123:63686123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1308C>A |
| AA Mutation |
p.Phe436Leu(p.F436L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247225 |
| Start |
63727330:63727330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.615C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000247225 |
| Start |
63727524:63727524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.421G>T |
| AA Mutation |
p.Glu141Ter(p.E141*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|