| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000443185 |
| Start |
76379658:76379658(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2456delC |
| AA Mutation |
p.Pro819ArgfsTer156(p.P819Rfs*156) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000443185 |
| Start |
76379585:76379585(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2529delG |
| AA Mutation |
p.Met844CysfsTer131(p.M844Cfs*131) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZNF516
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443185 |
| Start |
76442211:76442211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.844G>A |
| AA Mutation |
p.Gly282Ser(p.G282S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443185 |
| Start |
76378876:76378876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745468302
|
| CDS Mutation |
c.3238G>A |
| AA Mutation |
p.Gly1080Ser(p.G1080S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443185 |
| Start |
76380065:76380065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2049G>T |
| AA Mutation |
p.Glu683Asp(p.E683D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443185 |
| Start |
76380288:76380288(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs542430571
|
| CDS Mutation |
c.1826G>A |
| AA Mutation |
p.Arg609His(p.R609H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443185 |
| Start |
76442880:76442880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.175G>A |
| AA Mutation |
p.Glu59Lys(p.E59K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000443185 |
| Start |
76442479:76442479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.576C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|