| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55344377:55344377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1179T>A |
| AA Mutation |
p.Asp393Glu(p.D393E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55355745:55355745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.634A>G |
| AA Mutation |
p.Ile212Val(p.I212V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55362413:55362413(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.522A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |