| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000326793 |
| Start |
195381029:195381029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141761176
|
| CDS Mutation |
c.265G>T |
| AA Mutation |
p.Glu89Ter(p.E89*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326793 |
| Start |
195295740:195295741(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1639_1640insAATATGTAGAA |
| AA Mutation |
p.Gly547GlufsTer90(p.G547Efs*90) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ACAP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326793 |
| Start |
195308830:195308830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.865T>C |
| AA Mutation |
p.Phe289Leu(p.F289L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326793 |
| Start |
195336967:195336967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.538C>A |
| AA Mutation |
p.Leu180Ile(p.L180I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326793 |
| Start |
195297247:195297247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1430G>A |
| AA Mutation |
p.Arg477Gln(p.R477Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000326793 |
| Start |
195326912:195326912(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.717G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|