| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000231887 |
| Start |
185192298:185192298(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs755556987
|
| CDS Mutation |
c.2100delA |
| AA Mutation |
p.Lys700AsnfsTer10(p.K700Nfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231887 |
| Start |
185192690:185192690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749297909
|
| CDS Mutation |
c.1708C>T |
| AA Mutation |
p.Arg570Ter(p.R570*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EHHADH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231887 |
| Start |
185235420:185235420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.221T>C |
| AA Mutation |
p.Leu74Pro(p.L74P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231887 |
| Start |
185193454:185193454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.944C>A |
| AA Mutation |
p.Ser315Tyr(p.S315Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|