| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378842 |
| Start |
34648153:34648153(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.550delC |
| AA Mutation |
p.His184ThrfsTer35(p.H184Tfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378842 |
| Start |
34647181:34647181(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.178delC |
| AA Mutation |
p.Gln60SerfsTer3(p.Q60Sfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GALT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378842 |
| Start |
34647867:34647867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs111033686
|
| CDS Mutation |
c.413C>T |
| AA Mutation |
p.Thr138Met(p.T138M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|