| Mutation ID |
25 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000488444 |
| Start |
135772776:135772776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370155559
|
| CDS Mutation |
c.2013C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000488444 |
| Start |
135765183:135765183(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1135delC |
| AA Mutation |
p.Arg379GlyfsTer81(p.R379Gfs*81) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KCNT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000488444 |
| Start |
135784792:135784792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373365707
|
| CDS Mutation |
c.3002G>A |
| AA Mutation |
p.Arg1001His(p.R1001H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000488444 |
| Start |
135775405:135775405(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780759196
|
| CDS Mutation |
c.2282G>A |
| AA Mutation |
p.Arg761Gln(p.R761Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000488444 |
| Start |
135786304:135786304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778877333
|
| CDS Mutation |
c.3207C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000488444 |
| Start |
135765168:135765168(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374015551
|
| CDS Mutation |
c.1116C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000488444 |
| Start |
135765753:135765753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764562570
|
| CDS Mutation |
c.1273C>T |
| AA Mutation |
p.Arg425Ter(p.R425*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|