| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373509 |
| Start |
37173038:37173038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.650G>A |
| AA Mutation |
p.Arg217His(p.R217H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373509 |
| Start |
37173006:37173006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367939225
|
| CDS Mutation |
c.618G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373509 |
| Start |
37173001:37173001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.613C>T |
| AA Mutation |
p.Arg205Ter(p.R205*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |