| Mutation ID |
27 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000251102 |
| Start |
57957347:57957347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.868C>T |
| AA Mutation |
p.Gln290Ter(p.Q290*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251102 |
| Start |
57962594:57962595(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.428_429insGCCCTCAACTTCCCCTAGCT |
| AA Mutation |
p.Asn144ProfsTer140(p.N144Pfs*140) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CNGB1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251102 |
| Start |
57901417:57901417(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2911A>G |
| AA Mutation |
p.Ile971Val(p.I971V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251102 |
| Start |
57911807:57911807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747258045
|
| CDS Mutation |
c.2438C>T |
| AA Mutation |
p.Ser813Leu(p.S813L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251102 |
| Start |
57904763:57904763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61735107
|
| CDS Mutation |
c.2605G>A |
| AA Mutation |
p.Val869Ile(p.V869I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251102 |
| Start |
57919175:57919175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369525244
|
| CDS Mutation |
c.1881C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251102 |
| Start |
57931787:57931787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372219689
|
| CDS Mutation |
c.1464C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251102 |
| Start |
57920493:57920493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757874189
|
| CDS Mutation |
c.1695C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|