| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355311 |
| Start |
129962184:129962184(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.398C>A |
| AA Mutation |
p.Ser133Ter(p.S133*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355311 |
| Start |
129848448:129848449(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1071dupT |
| AA Mutation |
p.Gln358SerfsTer13(p.Q358Sfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EBF3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355311 |
| Start |
129840266:129840266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs567788867
|
| CDS Mutation |
c.1738G>A |
| AA Mutation |
p.Ala580Thr(p.A580T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355311 |
| Start |
129842238:129842238(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149862226
|
| CDS Mutation |
c.1250G>A |
| AA Mutation |
p.Arg417His(p.R417H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355311 |
| Start |
129840261:129840261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs7092828
|
| CDS Mutation |
c.1743C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355311 |
| Start |
129867861:129867861(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.833delG |
| AA Mutation |
p.Gly278ValfsTer6(p.G278Vfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|