| Mutation ID |
28 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375687 |
| Start |
32436394:32436394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3682G>T |
| AA Mutation |
p.Glu1228Ter(p.E1228*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375687 |
| Start |
32435242:32435243(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs750170870
|
| CDS Mutation |
c.2535dupC |
| AA Mutation |
p.Ser846GlnfsTer5(p.S846Qfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ASXL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375687 |
| Start |
32435959:32435959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3247G>T |
| AA Mutation |
p.Ala1083Ser(p.A1083S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375687 |
| Start |
32431661:32431661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.961C>T |
| AA Mutation |
p.Arg321Trp(p.R321W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375687 |
| Start |
32432962:32432962(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1062C>A |
| AA Mutation |
p.Phe354Leu(p.F354L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375687 |
| Start |
32435812:32435812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3100A>G |
| AA Mutation |
p.Lys1034Glu(p.K1034E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375687 |
| Start |
32428347:32428347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.396G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375687 |
| Start |
32437107:32437107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4395A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375687 |
| Start |
32435907:32435907(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3195G>A |
| AA Mutation |
p.Trp1065Ter(p.W1065*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375687 |
| Start |
32436011:32436011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3299C>A |
| AA Mutation |
p.Ser1100Ter(p.S1100*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|