| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374566 |
| Start |
109253510:109253510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377479255
|
| CDS Mutation |
c.1210C>T |
| AA Mutation |
p.Arg404Ter(p.R404*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000374566 |
| Start |
109182798:109182798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2419-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EPB41L4B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374566 |
| Start |
109194303:109194303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201636849
|
| CDS Mutation |
c.2140G>A |
| AA Mutation |
p.Val714Met(p.V714M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374566 |
| Start |
109203692:109203692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1917G>T |
| AA Mutation |
p.Lys639Asn(p.K639N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374566 |
| Start |
109267504:109267504(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.502G>A |
| AA Mutation |
p.Glu168Lys(p.E168K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|