| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000336077 |
| Start |
54773409:54773409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.147T>A |
| AA Mutation |
p.Cys49Ter(p.C49*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000336077 |
| Start |
54769852:54769852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755870678
|
| CDS Mutation |
c.2T>C |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KIR2DL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336077 |
| Start |
54770853:54770853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.39C>A |
| AA Mutation |
p.Phe13Leu(p.F13L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336077 |
| Start |
54782989:54782989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.783C>A |
| AA Mutation |
p.Phe261Leu(p.F261L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000336077 |
| Start |
54783690:54783690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.924C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|