| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371571 |
| Start |
51009609:51009610(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.729_730insACATTGCATATAGGAAAACAACCATTCCTGTCAGCGGCTGACATTTTGAAAGGTG |
| AA Mutation |
p.Leu244ThrfsTer274(p.L244Tfs*274) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000371571 |
| Start |
51004807:51004807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.775-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KCNG1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371571 |
| Start |
51004334:51004334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1247G>T |
| AA Mutation |
p.Trp416Leu(p.W416L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371571 |
| Start |
51010020:51010020(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.319G>T |
| AA Mutation |
p.Asp107Tyr(p.D107Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371571 |
| Start |
51009871:51009871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147442458
|
| CDS Mutation |
c.468C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|