| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000351870 |
| Start |
91873782:91873782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1012G>T |
| AA Mutation |
p.Glu338Ter(p.E338*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000351870 |
| Start |
91873808:91873809(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.985_986insTCTTTTTTTACTCC |
| AA Mutation |
p.Asn329IlefsTer9(p.N329Ifs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MTERF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351870 |
| Start |
91873709:91873709(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777960484
|
| CDS Mutation |
c.1085G>A |
| AA Mutation |
p.Arg362Gln(p.R362Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351870 |
| Start |
91873900:91873900(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.894G>T |
| AA Mutation |
p.Glu298Asp(p.E298D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351870 |
| Start |
91874080:91874080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.714T>G |
| AA Mutation |
p.Ile238Met(p.I238M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000351870 |
| Start |
91873939:91873939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.855C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000351870 |
| Start |
91873701:91873701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1093G>T |
| AA Mutation |
p.Glu365Ter(p.E365*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|