| Mutation ID |
17 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000369939 |
| Start |
109162015:109162015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.274+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000369939 |
| Start |
109191724:109191724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1546-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KIAA1324
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000369939 |
| Start |
109164691:109164691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138658561
|
| CDS Mutation |
c.467C>T |
| AA Mutation |
p.Ser156Leu(p.S156L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369939 |
| Start |
109200811:109200811(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766619909
|
| CDS Mutation |
c.2884G>A |
| AA Mutation |
p.Ala962Thr(p.A962T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369939 |
| Start |
109198625:109198625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774651423
|
| CDS Mutation |
c.2452G>A |
| AA Mutation |
p.Val818Ile(p.V818I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369939 |
| Start |
109189175:109189175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370424649
|
| CDS Mutation |
c.1329C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|