| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000288490 |
| Start |
137521875:137521875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748651549
|
| CDS Mutation |
c.2239C>T |
| AA Mutation |
p.Arg747Ter(p.R747*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000288490 |
| Start |
137581848:137581848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1642+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DGKI
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288490 |
| Start |
137689988:137689988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752713052
|
| CDS Mutation |
c.416G>A |
| AA Mutation |
p.Arg139Gln(p.R139Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288490 |
| Start |
137395639:137395639(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3040C>A |
| AA Mutation |
p.Leu1014Met(p.L1014M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288490 |
| Start |
137552457:137552457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370315489
|
| CDS Mutation |
c.2059G>A |
| AA Mutation |
p.Ala687Thr(p.A687T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288490 |
| Start |
137578292:137578292(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1676G>A |
| AA Mutation |
p.Arg559Gln(p.R559Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288490 |
| Start |
137407914:137407914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2905A>G |
| AA Mutation |
p.Thr969Ala(p.T969A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000288490 |
| Start |
137395607:137395607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774502167
|
| CDS Mutation |
c.3072G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|