| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377797 |
| Start |
150374973:150374973(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1303delC |
| AA Mutation |
p.Gln435ArgfsTer58(p.Q435Rfs*58) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000377797 |
| Start |
150392092:150392100(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3438_3446delTGAGGACAG |
| AA Mutation |
p.Glu1147_Ser1149del(p.E1147_S1149del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TCOF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377797 |
| Start |
150387929:150387929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2887G>A |
| AA Mutation |
p.Asp963Asn(p.D963N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377797 |
| Start |
150393387:150393387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3616T>G |
| AA Mutation |
p.Tyr1206Asp(p.Y1206D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377797 |
| Start |
150396720:150396720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4220C>T |
| AA Mutation |
p.Ser1407Phe(p.S1407F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377797 |
| Start |
150389982:150389982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764924499
|
| CDS Mutation |
c.3142C>T |
| AA Mutation |
p.Arg1048Trp(p.R1048W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377797 |
| Start |
150364152:150364152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.204T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|