| Mutation ID |
36 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359125 |
| Start |
63433834:63433834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1093C>T |
| AA Mutation |
p.Arg365Ter(p.R365*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000359125 |
| Start |
63428436:63428436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1149-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KCNQ2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359125 |
| Start |
63439644:63439644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.881C>T |
| AA Mutation |
p.Ala294Val(p.A294V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359125 |
| Start |
63408436:63408436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772405187
|
| CDS Mutation |
c.1864C>T |
| AA Mutation |
p.Arg622Trp(p.R622W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359125 |
| Start |
63407223:63407223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368050380
|
| CDS Mutation |
c.2040C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359125 |
| Start |
63428423:63428423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147453497
|
| CDS Mutation |
c.1161G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000359125 |
| Start |
63444657:63444657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.690+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|