| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000340010 |
| Start |
107773918:107773918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2007+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000340010 |
| Start |
107793740:107793740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.271+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC26A3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340010 |
| Start |
107791080:107791080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.538G>A |
| AA Mutation |
p.Ala180Thr(p.A180T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340010 |
| Start |
107776674:107776674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1547G>T |
| AA Mutation |
p.Arg516Ile(p.R516I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340010 |
| Start |
107789532:107789532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.727A>G |
| AA Mutation |
p.Ile243Val(p.I243V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340010 |
| Start |
107793858:107793858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.155G>T |
| AA Mutation |
p.Arg52Ile(p.R52I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|