| Mutation ID |
35 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45660063:45660064(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1330_1337dupACCCTAGC |
| AA Mutation |
p.Cys447ProfsTer2(p.C447Pfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
36 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45684978:45684978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1984-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADCY1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45713830:45713830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3195C>G |
| AA Mutation |
p.Ile1065Met(p.I1065M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45703436:45703436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2515A>G |
| AA Mutation |
p.Asn839Asp(p.N839D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45708381:45708381(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368928291
|
| CDS Mutation |
c.2849C>T |
| AA Mutation |
p.Thr950Met(p.T950M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45657812:45657812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs536487311
|
| CDS Mutation |
c.1234C>T |
| AA Mutation |
p.Arg412Cys(p.R412C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45622741:45622741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1018A>C |
| AA Mutation |
p.Thr340Pro(p.T340P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45622728:45622728(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143472730
|
| CDS Mutation |
c.1005C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45592785:45592785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149960050
|
| CDS Mutation |
c.666C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45660147:45660147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780254994
|
| CDS Mutation |
c.1413C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45703423:45703423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2502G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|