| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378954 |
| Start |
38298394:38298394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1382A>G |
| AA Mutation |
p.Lys461Arg(p.K461R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378954 |
| Start |
38313175:38313175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.780G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000378954 |
| Start |
38318965:38318965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.418C>T |
| AA Mutation |
p.Arg140Ter(p.R140*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |