| Mutation ID |
53 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000359759 |
| Start |
45504415:45504415(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3976delG |
| AA Mutation |
p.Glu1326ArgfsTer120(p.X1326_splice) |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
54 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000359759 |
| Start |
45491315:45491315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3402+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COL18A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359759 |
| Start |
45481985:45481985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2879G>A |
| AA Mutation |
p.Arg960Lys(p.R960K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359759 |
| Start |
45455865:45455865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.335C>A |
| AA Mutation |
p.Ala112Asp(p.A112D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359759 |
| Start |
45494551:45494551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3604C>T |
| AA Mutation |
p.Pro1202Ser(p.P1202S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359759 |
| Start |
45511206:45511206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780143332
|
| CDS Mutation |
c.5034C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|