| Mutation ID |
7 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000226432 |
| Start |
48991982:48991983(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.403_404insGTAATTTGCAATAATGAATGTGA |
| AA Mutation |
p.Val135GlyfsTer5(p.V135Gfs*5) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000226432 |
| Start |
49032717:49032717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1658+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000226432 |
| Start |
49050775:49050776(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1947_1948insTTTGTT |
| AA Mutation |
p.Pro649_Thr650insPheVal(p.P649_T650insFV) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CWH43
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226432 |
| Start |
48994814:48994814(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.707C>T |
| AA Mutation |
p.Pro236Leu(p.P236L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226432 |
| Start |
49050796:49050796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1968G>T |
| AA Mutation |
p.Gln656His(p.Q656H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000226432 |
| Start |
49061824:49061824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2034C>A |
| AA Mutation |
p.Tyr678Ter(p.Y678*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|