| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261893 |
| Start |
63127489:63127489(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.756delA |
| AA Mutation |
p.Glu253LysfsTer42(p.E253Kfs*42) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000261893 |
| Start |
63141279:63141279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1119-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LACTB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261893 |
| Start |
63141326:63141326(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566925626
|
| CDS Mutation |
c.1165G>A |
| AA Mutation |
p.Val389Met(p.V389M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261893 |
| Start |
63127608:63127608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755059722
|
| CDS Mutation |
c.871G>A |
| AA Mutation |
p.Glu291Lys(p.E291K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261893 |
| Start |
63126916:63126916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.482G>A |
| AA Mutation |
p.Arg161Gln(p.R161Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000261893 |
| Start |
63141665:63141665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1504G>T |
| AA Mutation |
p.Glu502Ter(p.E502*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|