| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000338206 |
| Start |
68669978:68669978(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.641delA |
| AA Mutation |
p.Asn214IlefsTer2(p.N214Ifs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000338206 |
| Start |
68670396:68670396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.223G>T |
| AA Mutation |
p.Glu75Ter(p.E75*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UGT2B15
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338206 |
| Start |
68670443:68670443(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748258349
|
| CDS Mutation |
c.176C>T |
| AA Mutation |
p.Ser59Leu(p.S59L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338206 |
| Start |
68647354:68647354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1343G>T |
| AA Mutation |
p.Arg448Ile(p.R448I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338206 |
| Start |
68647215:68647215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1482G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338206 |
| Start |
68670139:68670139(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.480A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|