| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324300 |
| Start |
147485961:147485961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.280G>T |
| AA Mutation |
p.Gly94Ter(p.G94*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324300 |
| Start |
147539933:147539934(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1017_1018insTA |
| AA Mutation |
p.Arg340TyrfsTer22(p.R340Yfs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EDNRA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324300 |
| Start |
147486027:147486027(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.346A>G |
| AA Mutation |
p.Asn116Asp(p.N116D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|