| Mutation ID |
29 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000435504 |
| Start |
25744291:25744292(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2028_2045dupTGCCGCCGCAGCTGCTGC |
| AA Mutation |
p.Ala679_Ala684dup(p.A679_A684dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000435504 |
| Start |
25878220:25878220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3G>A |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ASXL2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435504 |
| Start |
25759633:25759633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.788G>T |
| AA Mutation |
p.Arg263Ile(p.R263I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435504 |
| Start |
25768844:25768844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs190136878
|
| CDS Mutation |
c.529A>C |
| AA Mutation |
p.Lys177Gln(p.K177Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435504 |
| Start |
25756061:25756061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.993C>A |
| AA Mutation |
p.Phe331Leu(p.F331L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435504 |
| Start |
25742672:25742672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3665C>T |
| AA Mutation |
p.Thr1222Ile(p.T1222I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000435504 |
| Start |
25749936:25749936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1620C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000435504 |
| Start |
25759552:25759552(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.869delA |
| AA Mutation |
p.His290ProfsTer21(p.H290Pfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000435504 |
| Start |
25759517:25759517(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.904C>T |
| AA Mutation |
p.Arg302Ter(p.R302*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|