| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33740022:33740022(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2625delA |
| AA Mutation |
p.Val876CysfsTer59(p.V876Cfs*59) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33745951:33745951(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6110delC |
| AA Mutation |
p.Pro2037HisfsTer43(p.P2037Hfs*43) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ASXL3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33734402:33734402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1069T>A |
| AA Mutation |
p.Phe357Ile(p.F357I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33743140:33743140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3292A>C |
| AA Mutation |
p.Thr1098Pro(p.T1098P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33743819:33743819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3971T>A |
| AA Mutation |
p.Leu1324Gln(p.L1324Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33738817:33738817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1413G>T |
| AA Mutation |
p.Lys471Asn(p.K471N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33739058:33739058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1654C>A |
| AA Mutation |
p.His552Asn(p.H552N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33739814:33739814(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2410C>A |
| AA Mutation |
p.Leu804Met(p.L804M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33745316:33745316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201071954
|
| CDS Mutation |
c.5468G>A |
| AA Mutation |
p.Arg1823Gln(p.R1823Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33661622:33661622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753959478
|
| CDS Mutation |
c.362C>T |
| AA Mutation |
p.Ser121Leu(p.S121L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33732021:33732021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.933C>A |
| AA Mutation |
p.Phe311Leu(p.F311L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33746193:33746193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763915321
|
| CDS Mutation |
c.6345C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33745101:33745101(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5253G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33743700:33743700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3852C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33746253:33746253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6405C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269197 |
| Start |
33738907:33738907(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1503C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|