| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000517746 |
| Start |
107251862:107251862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1490A>T |
| AA Mutation |
p.Asp497Val(p.D497V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000517746 |
| Start |
107284737:107284737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1150C>T |
| AA Mutation |
p.Arg384Ter(p.R384*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000517746 |
| Start |
107497309:107497309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.250C>T |
| AA Mutation |
p.Gln84Ter(p.Q84*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |