| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263277 |
| Start |
47716876:47716876(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.267delG |
| AA Mutation |
p.Pro90LeufsTer76(p.P90Lfs*76) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263277 |
| Start |
47740995:47740995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1195C>T |
| AA Mutation |
p.Gln399Ter(p.Q399*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EHD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263277 |
| Start |
47716757:47716757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.145G>A |
| AA Mutation |
p.Ala49Thr(p.A49T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263277 |
| Start |
47725904:47725904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776967729
|
| CDS Mutation |
c.595G>A |
| AA Mutation |
p.Glu199Lys(p.E199K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|