| Mutation ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000378526 |
| Start |
35002748:35002748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2755G>T |
| AA Mutation |
p.Glu919Ter(p.E919*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378526 |
| Start |
34983466:34983467(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs745989900
|
| CDS Mutation |
c.469dupA |
| AA Mutation |
p.Ile157AsnfsTer16(p.I157Nfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LIG3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378526 |
| Start |
34991083:34991083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1010A>T |
| AA Mutation |
p.Asn337Ile(p.N337I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378526 |
| Start |
35002752:35002752(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2759A>G |
| AA Mutation |
p.Lys920Arg(p.K920R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378526 |
| Start |
34983387:34983387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.382T>A |
| AA Mutation |
p.Ser128Thr(p.S128T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378526 |
| Start |
34986118:34986118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.678T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378526 |
| Start |
34983476:34983476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.471C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|