| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358470 |
| Start |
191032961:191032961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2041G>C |
| AA Mutation |
p.Glu681Gln(p.E681Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358470 |
| Start |
191148151:191148151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.53T>A |
| AA Mutation |
p.Val18Glu(p.V18E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000358470 |
| Start |
191062763:191062763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.940A>G |
| AA Mutation |
p.Asn314Asp(p.N314D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |