| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380985 |
| Start |
65792632:65792632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772545743
|
| CDS Mutation |
c.1504G>A |
| AA Mutation |
p.Val502Met(p.V502M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380985 |
| Start |
65812290:65812290(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1883delG |
| AA Mutation |
p.Gly628AspfsTer29(p.G628Dfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NLN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380985 |
| Start |
65809545:65809545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1558G>A |
| AA Mutation |
p.Val520Met(p.V520M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000380985 |
| Start |
65758825:65758825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.300A>G |
| AA Mutation |
p.Ile100Met(p.I100M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380985 |
| Start |
65810100:65810100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756611686
|
| CDS Mutation |
c.1778C>T |
| AA Mutation |
p.Ser593Leu(p.S593L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|