| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355574 |
| Start |
35959539:35959540(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1783_1784insC |
| AA Mutation |
p.Asn595ThrfsTer4(p.N595Tfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000355574 |
| Start |
35959547:35959548(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1775_1776insACTAGTGTA |
| AA Mutation |
p.Ser592delinsArgLeuValTyr(p.S592delinsRLVY) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC26A8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355574 |
| Start |
35962572:35962572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1415C>T |
| AA Mutation |
p.Thr472Ile(p.T472I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355574 |
| Start |
35997884:35997884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199595123
|
| CDS Mutation |
c.481G>A |
| AA Mutation |
p.Val161Ile(p.V161I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355574 |
| Start |
35975485:35975485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1177T>G |
| AA Mutation |
p.Leu393Val(p.L393V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000355574 |
| Start |
36019520:36019520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769836507
|
| CDS Mutation |
c.188G>A |
| AA Mutation |
p.Arg63His(p.R63H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355574 |
| Start |
36019645:36019645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367670633
|
| CDS Mutation |
c.63C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355574 |
| Start |
36012302:36012302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.259C>T |
| AA Mutation |
p.Arg87Ter(p.R87*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|