| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368171 |
| Start |
158182926:158182926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199860570
|
| CDS Mutation |
c.656G>A |
| AA Mutation |
p.Arg219His(p.R219H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368171 |
| Start |
158181471:158181471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.78C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000368171 |
| Start |
158184036:158184036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775899867
|
| CDS Mutation |
c.986+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |