| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399503 |
| Start |
56882324:56882324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3124C>G |
| AA Mutation |
p.Leu1042Val(p.L1042V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399503 |
| Start |
56881124:56881124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2221A>G |
| AA Mutation |
p.Ile741Val(p.I741V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000399503 |
| Start |
56859823:56859823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.742C>T |
| AA Mutation |
p.Arg248Ter(p.R248*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |