| Mutation ID |
32 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000338316 |
| Start |
7816974:7816974(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2992C>T |
| AA Mutation |
p.Arg998Ter(p.R998*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000338316 |
| Start |
7802326:7802327(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2739dupT |
| AA Mutation |
p.Arg914SerfsTer9(p.R914Sfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADCY2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338316 |
| Start |
7802302:7802302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368187458
|
| CDS Mutation |
c.2713G>A |
| AA Mutation |
p.Val905Met(p.V905M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338316 |
| Start |
7698263:7698263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.998G>A |
| AA Mutation |
p.Arg333Lys(p.R333K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338316 |
| Start |
7626308:7626308(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754055904
|
| CDS Mutation |
c.712C>T |
| AA Mutation |
p.Arg238Cys(p.R238C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338316 |
| Start |
7698263:7698263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.998G>T |
| AA Mutation |
p.Arg333Ile(p.R333I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000338316 |
| Start |
7784449:7784449(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2469G>T |
| AA Mutation |
p.Gln823His(p.Q823H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338316 |
| Start |
7820659:7820659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3093G>A |
| AA Mutation |
p.Met1031Ile(p.M1031I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000338316 |
| Start |
7766757:7766757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2165C>G |
| AA Mutation |
p.Ser722Ter(p.S722*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|