| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310346 |
| Start |
114355931:114355931(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1158delC |
| AA Mutation |
p.Ser387AlafsTer7(p.S387Afs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310346 |
| Start |
114355634:114355635(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1454dupC |
| AA Mutation |
p.Glu486Ter(p.E486*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TBX5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310346 |
| Start |
114403892:114403892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7G>A |
| AA Mutation |
p.Asp3Asn(p.D3N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310346 |
| Start |
114366243:114366243(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.904C>A |
| AA Mutation |
p.Gln302Lys(p.Q302K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310346 |
| Start |
114355918:114355918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755849744
|
| CDS Mutation |
c.1171C>T |
| AA Mutation |
p.Pro391Ser(p.P391S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310346 |
| Start |
114403866:114403866(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.33G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|