| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263026 |
| Start |
22225782:22225782(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.58delC |
| AA Mutation |
p.Arg20GlufsTer44(p.R20Efs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263026 |
| Start |
22280367:22280367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2059C>T |
| AA Mutation |
p.Gln687Ter(p.Q687*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EEF2K
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263026 |
| Start |
22257648:22257648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375672467
|
| CDS Mutation |
c.907C>T |
| AA Mutation |
p.Arg303Cys(p.R303C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263026 |
| Start |
22266448:22266448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766225103
|
| CDS Mutation |
c.1499C>T |
| AA Mutation |
p.Ser500Leu(p.S500L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263026 |
| Start |
22244644:22244644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200566569
|
| CDS Mutation |
c.261C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|