| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172760265:172760265(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765273363
|
| CDS Mutation |
c.684+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172757167:172757167(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.486+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ECT2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172815711:172815711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2508G>T |
| AA Mutation |
p.Lys836Asn(p.K836N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172816737:172816737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2555G>A |
| AA Mutation |
p.Arg852Gln(p.R852Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172760199:172760199(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.620G>T |
| AA Mutation |
p.Arg207Leu(p.R207L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|