| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310132 |
| Start |
3784850:3784850(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.107delC |
| AA Mutation |
p.Pro36LeufsTer125(p.P36Lfs*125) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000310132 |
| Start |
3784858:3784858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.99G>A |
| AA Mutation |
p.Trp33Ter(p.W33*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MATK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310132 |
| Start |
3779722:3779722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.818T>G |
| AA Mutation |
p.Phe273Cys(p.F273C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310132 |
| Start |
3778382:3778382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200912092
|
| CDS Mutation |
c.1325G>A |
| AA Mutation |
p.Arg442His(p.R442H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310132 |
| Start |
3784144:3784144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.342C>A |
| AA Mutation |
p.Asp114Glu(p.D114E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|