| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000193403 |
| Start |
68912228:68912229(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.354_355insGA |
| AA Mutation |
p.Asn119GlufsTer3(p.N119Efs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000193403 |
| Start |
68892149:68892151(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.988_990delGAG |
| AA Mutation |
p.Glu330del(p.E330del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ACTN1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000193403 |
| Start |
68921051:68921051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.295T>G |
| AA Mutation |
p.Phe99Val(p.F99V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000193403 |
| Start |
68879045:68879045(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2305G>A |
| AA Mutation |
p.Glu769Lys(p.E769K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000193403 |
| Start |
68883024:68883024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1667C>T |
| AA Mutation |
p.Ala556Val(p.A556V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000193403 |
| Start |
68884302:68884302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368356125
|
| CDS Mutation |
c.1501G>A |
| AA Mutation |
p.Glu501Lys(p.E501K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000193403 |
| Start |
68912185:68912185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.398G>A |
| AA Mutation |
p.Arg133His(p.R133H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000193403 |
| Start |
68884300:68884300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1503G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|