| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000304625 |
| Start |
20956204:20956204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.433C>T |
| AA Mutation |
p.Arg145Ter(p.R145*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000304625 |
| Start |
20956201:20956201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755835358
|
| CDS Mutation |
c.430C>T |
| AA Mutation |
p.Arg144Ter(p.R144*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000304625 |
| Start |
20955773:20955773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2T>C |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |