| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343070 |
| Start |
23377201:23377204(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1312_1315delGAGA |
| AA Mutation |
p.Glu438ProfsTer17(p.E438Pfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000343070 |
| Start |
23380152:23380152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1525G>T |
| AA Mutation |
p.Glu509Ter(p.E509*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SCNN1B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343070 |
| Start |
23352818:23352818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.329A>G |
| AA Mutation |
p.His110Arg(p.H110R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343070 |
| Start |
23380723:23380723(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760344381
|
| CDS Mutation |
c.1845C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|