| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343002 |
| Start |
66266444:66266445(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs750060613
|
| CDS Mutation |
c.3255dupC |
| AA Mutation |
p.Arg1086GlnfsTer4(p.R1086Qfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000343002 |
| Start |
66256332:66256332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2896+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HEPH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343002 |
| Start |
66255104:66255104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2633T>C |
| AA Mutation |
p.Val878Ala(p.V878A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343002 |
| Start |
66260251:66260251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3188T>G |
| AA Mutation |
p.Phe1063Cys(p.F1063C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343002 |
| Start |
66263678:66263678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3234G>T |
| AA Mutation |
p.Glu1078Asp(p.E1078D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343002 |
| Start |
66266504:66266504(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3309G>T |
| AA Mutation |
p.Lys1103Asn(p.K1103N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343002 |
| Start |
66207200:66207200(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2297G>T |
| AA Mutation |
p.Gly766Val(p.G766V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|