| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000379454 |
| Start |
61638331:61638331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.823G>T |
| AA Mutation |
p.Glu275Ter(p.E275*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379454 |
| Start |
61633713:61633714(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.903dupT |
| AA Mutation |
p.Pro302SerfsTer14(p.P302Sfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ASPH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379454 |
| Start |
61643948:61643948(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.706C>T |
| AA Mutation |
p.Pro236Ser(p.P236S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379454 |
| Start |
61503418:61503418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762826838
|
| CDS Mutation |
c.2218G>A |
| AA Mutation |
p.Val740Met(p.V740M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379454 |
| Start |
61583999:61583999(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1007A>C |
| AA Mutation |
p.Lys336Thr(p.K336T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379454 |
| Start |
61517536:61517536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs554349058
|
| CDS Mutation |
c.2118C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|