| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000338034 |
| Start |
13000230:13000230(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1349delC |
| AA Mutation |
p.Ala450GlyfsTer45(p.A450Gfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000338034 |
| Start |
13011769:13011771(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.571_573delAGG |
| AA Mutation |
p.Arg191del(p.R191del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ELAC2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338034 |
| Start |
13005949:13005949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777491508
|
| CDS Mutation |
c.769C>T |
| AA Mutation |
p.Leu257Phe(p.L257F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|