| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262809 |
| Start |
18461640:18461640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.682C>T |
| AA Mutation |
p.Arg228Ter(p.R228*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000262809 |
| Start |
18446395:18446397(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1616_1618delTGC |
| AA Mutation |
p.Leu539del(p.L539del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ELL
| Mutation ID |
1 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262809 |
| Start |
18465808:18465808(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.294delG |
| AA Mutation |
p.Gln98HisfsTer99(p.Q98Hfs*99) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262809 |
| Start |
18458269:18458269(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.805delG |
| AA Mutation |
p.Val269CysfsTer16(p.V269Cfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262809 |
| Start |
18445262:18445262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1711C>T |
| AA Mutation |
p.Arg571Ter(p.R571*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|