| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000304434 |
| Start |
53275193:53275193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.393C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000304434 |
| Start |
53291962:53291963(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.59_60insACATA |
| AA Mutation |
p.Asp20GlufsTer6(p.D20Efs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ELOVL5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304434 |
| Start |
53270618:53270618(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.731C>T |
| AA Mutation |
p.Ala244Val(p.A244V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304434 |
| Start |
53269161:53269161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780696778
|
| CDS Mutation |
c.866A>G |
| AA Mutation |
p.Asn289Ser(p.N289S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|