| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000228682 |
| Start |
57471655:57471655(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2918delA |
| AA Mutation |
p.Asn973IlefsTer3(p.N973Ifs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000228682 |
| Start |
57465826:57465827(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.671_672dupAG |
| AA Mutation |
p.Glu225ArgfsTer56(p.E225Rfs*56) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GLI1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228682 |
| Start |
57464745:57464745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746964085
|
| CDS Mutation |
c.266C>T |
| AA Mutation |
p.Ser89Leu(p.S89L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228682 |
| Start |
57471275:57471275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2535G>T |
| AA Mutation |
p.Gln845His(p.Q845H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228682 |
| Start |
57469551:57469551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1429G>T |
| AA Mutation |
p.Asp477Tyr(p.D477Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000228682 |
| Start |
57466292:57466292(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs759448855
|
| CDS Mutation |
c.821delG |
| AA Mutation |
p.Gly274AlafsTer6(p.G274Afs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000228682 |
| Start |
57471293:57471293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768421030
|
| CDS Mutation |
c.2553C>A |
| AA Mutation |
p.Tyr851Ter(p.Y851*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|