| Mutation ID |
28 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000399322 |
| Start |
14621376:14621376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1287+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000399322 |
| Start |
14753949:14753949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.148-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DGKB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399322 |
| Start |
14736108:14736108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.255G>A |
| AA Mutation |
p.Met85Ile(p.M85I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399322 |
| Start |
14574282:14574282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1703C>A |
| AA Mutation |
p.Pro568His(p.P568H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399322 |
| Start |
14736076:14736076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367918629
|
| CDS Mutation |
c.287C>A |
| AA Mutation |
p.Pro96Gln(p.P96Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399322 |
| Start |
14613374:14613374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1327G>C |
| AA Mutation |
p.Val443Leu(p.V443L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000399322 |
| Start |
14149131:14149131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2415A>C |
| AA Mutation |
p.Ter805TyrextTer13(p.*805Yext*13) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
|