| Mutation ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000333845 |
| Start |
32166137:32166137(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-28-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000333845 |
| Start |
32167517:32167518(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.698_724dupGGGCCTGGGTCAGAGCGGTGCTGCCCG |
| AA Mutation |
p.Gly233_Pro241dup(p.G233_P241dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EGFL8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333845 |
| Start |
32166796:32166796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371176366
|
| CDS Mutation |
c.320C>T |
| AA Mutation |
p.Ala107Val(p.A107V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|