| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9497197:9497200(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1697_1700delTTTG |
| AA Mutation |
p.Val566AlafsTer58(p.V566Afs*58) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9492896:9492896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2082+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAM17
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9555576:9555576(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.30C>A |
| AA Mutation |
p.Ser10Arg(p.S10R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9490271:9490271(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2381A>G |
| AA Mutation |
p.Asp794Gly(p.D794G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9492919:9492919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2061C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000310823 |
| Start |
9526233:9526233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774040338
|
| CDS Mutation |
c.631C>T |
| AA Mutation |
p.Arg211Ter(p.R211*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|