| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343164 |
| Start |
243740:243740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.276A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343164 |
| Start |
237175:237175(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.679delG |
| AA Mutation |
p.Val227Ter(p.V227*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC6A13
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343164 |
| Start |
243749:243749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.267G>T |
| AA Mutation |
p.Glu89Asp(p.E89D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000343164 |
| Start |
224511:224511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1063C>A |
| AA Mutation |
p.Pro355Thr(p.P355T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343164 |
| Start |
226488:226488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746122946
|
| CDS Mutation |
c.962A>G |
| AA Mutation |
p.Asn321Ser(p.N321S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|