| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375550 |
| Start |
92416709:92416709(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.850G>T |
| AA Mutation |
p.Glu284Ter(p.E284*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000375550 |
| Start |
92417556:92417556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3G>C |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> OMD
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375550 |
| Start |
92415321:92415321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1097G>A |
| AA Mutation |
p.Arg366Gln(p.R366Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375550 |
| Start |
92416724:92416724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.835C>A |
| AA Mutation |
p.Leu279Ile(p.L279I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375550 |
| Start |
92415276:92415276(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1142G>T |
| AA Mutation |
p.Arg381Met(p.R381M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375550 |
| Start |
92417029:92417029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.530T>C |
| AA Mutation |
p.Leu177Pro(p.L177P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375550 |
| Start |
92415412:92415412(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1006C>T |
| AA Mutation |
p.Arg336Cys(p.R336C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|