| Mutation ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000307712 |
| Start |
39042873:39042873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1900-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000307712 |
| Start |
39061837:39061838(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1432_1433insGAAACA |
| AA Mutation |
p.Ala478delinsGlyAsnThr(p.A478delinsGNT) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SEC23A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307712 |
| Start |
39075987:39075987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.935C>T |
| AA Mutation |
p.Ser312Leu(p.S312L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307712 |
| Start |
39055264:39055264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1538T>C |
| AA Mutation |
p.Ile513Thr(p.I513T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307712 |
| Start |
39096066:39096066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778291254
|
| CDS Mutation |
c.53G>A |
| AA Mutation |
p.Arg18Gln(p.R18Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000307712 |
| Start |
39040794:39040794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2080G>T |
| AA Mutation |
p.Glu694Ter(p.E694*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000307712 |
| Start |
39095897:39095897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.221+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|