| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000439986 |
| Start |
59438143:59438143(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.955delG |
| AA Mutation |
p.Glu319ArgfsTer80(p.E319Rfs*80) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000439986 |
| Start |
59454852:59454852(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.653delA |
| AA Mutation |
p.Lys218ArgfsTer181(p.K218Rfs*181) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CCBE1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000439986 |
| Start |
59436093:59436093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761881641
|
| CDS Mutation |
c.1036C>T |
| AA Mutation |
p.Arg346Cys(p.R346C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000439986 |
| Start |
59436092:59436092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768229052
|
| CDS Mutation |
c.1037G>A |
| AA Mutation |
p.Arg346His(p.R346H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000439986 |
| Start |
59696648:59696648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.193G>A |
| AA Mutation |
p.Glu65Lys(p.E65K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000439986 |
| Start |
59436124:59436124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs568146941
|
| CDS Mutation |
c.1005C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000439986 |
| Start |
59469545:59469545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.328C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|