| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262186 |
| Start |
150952698:150952698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371864051
|
| CDS Mutation |
c.1284G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262186 |
| Start |
150945415:150945415(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3430delG |
| AA Mutation |
p.Ala1144ProfsTer111(p.A1144Pfs*111) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KCNH2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262186 |
| Start |
150952801:150952801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781140785
|
| CDS Mutation |
c.1181G>A |
| AA Mutation |
p.Arg394His(p.R394H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262186 |
| Start |
150959701:150959701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150988911
|
| CDS Mutation |
c.343G>A |
| AA Mutation |
p.Val115Met(p.V115M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262186 |
| Start |
150950986:150950986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765717858
|
| CDS Mutation |
c.2080C>T |
| AA Mutation |
p.Arg694Cys(p.R694C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262186 |
| Start |
150951061:150951061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2005G>A |
| AA Mutation |
p.Gly669Ser(p.G669S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|