| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant;stop_lost |
| Transcription ID |
ENST00000423485 |
| Start |
40389521:40389521(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4594delT |
| AA Mutation |
p.Ter1532Lys(p.*1532K) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40396408:40396409(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3594dupG |
| AA Mutation |
p.Lys1199GlufsTer11(p.K1199Efs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TOP2A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40392298:40392298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs563013978
|
| CDS Mutation |
c.4008C>A |
| AA Mutation |
p.Phe1336Leu(p.F1336L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40400007:40400007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3061G>T |
| AA Mutation |
p.Asp1021Tyr(p.D1021Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40407998:40407998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1469T>C |
| AA Mutation |
p.Ile490Thr(p.I490T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40400562:40400562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2766A>C |
| AA Mutation |
p.Glu922Asp(p.E922D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40404255:40404255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2180G>T |
| AA Mutation |
p.Arg727Ile(p.R727I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40412779:40412779(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.769C>T |
| AA Mutation |
p.Leu257Phe(p.L257F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000423485 |
| Start |
40399965:40399965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3103G>T |
| AA Mutation |
p.Glu1035Ter(p.E1035*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000423485 |
| Start |
40389635:40389635(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4480G>T |
| AA Mutation |
p.Glu1494Ter(p.E1494*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|