| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000469530 |
| Start |
151017163:151017163(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2162delC |
| AA Mutation |
p.Pro721GlnfsTer62(p.P721Qfs*62) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000469530 |
| Start |
151016108:151016108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2647+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATG9B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000469530 |
| Start |
151023476:151023476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.628T>A |
| AA Mutation |
p.Cys210Ser(p.C210S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000469530 |
| Start |
151017173:151017173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2152T>G |
| AA Mutation |
p.Trp718Gly(p.W718G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000469530 |
| Start |
151023166:151023166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781445782
|
| CDS Mutation |
c.700C>T |
| AA Mutation |
p.Arg234Ter(p.R234*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|