| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000300086 |
| Start |
75656422:75656422(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1016delA |
| AA Mutation |
p.Asn339IlefsTer12(p.N339Ifs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000300086 |
| Start |
75654398:75654398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762123075
|
| CDS Mutation |
c.795+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TERF2IP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300086 |
| Start |
75656601:75656601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367571165
|
| CDS Mutation |
c.1190G>A |
| AA Mutation |
p.Arg397Gln(p.R397Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|