| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312891 |
| Start |
99929482:99929482(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.139delG |
| AA Mutation |
p.Glu47SerfsTer53(p.E47Sfs*53) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000312891 |
| Start |
99929318:99929318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.303G>A |
| AA Mutation |
p.Trp101Ter(p.W101*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GJC3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312891 |
| Start |
99929112:99929112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.509G>A |
| AA Mutation |
p.Arg170His(p.R170H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|