| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373202 |
| Start |
70859429:70859429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.545G>A |
| AA Mutation |
p.Arg182His(p.R182H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373202 |
| Start |
70871095:70871095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.858T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SGPL1
| Mutation ID |
1 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373202 |
| Start |
70875407:70875407(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1307delA |
| AA Mutation |
p.Asn436IlefsTer31(p.N436Ifs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|