| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295759 |
| Start |
219243309:219243309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138670049
|
| CDS Mutation |
c.78C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295759 |
| Start |
219242570:219242570(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs780866249
|
| CDS Mutation |
c.395delG |
| AA Mutation |
p.Gly132ValfsTer14(p.G132Vfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GLB1L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295759 |
| Start |
219237538:219237538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1663T>A |
| AA Mutation |
p.Phe555Ile(p.F555I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295759 |
| Start |
219237662:219237662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1539A>C |
| AA Mutation |
p.Lys513Asn(p.K513N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295759 |
| Start |
219238341:219238341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757310085
|
| CDS Mutation |
c.1250G>A |
| AA Mutation |
p.Arg417Gln(p.R417Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|