| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18859601:18859601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.60G>C |
| AA Mutation |
p.Glu20Asp(p.E20D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18839681:18839681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2438A>G |
| AA Mutation |
p.Tyr813Cys(p.Y813C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18839883:18839883(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368636486
|
| CDS Mutation |
c.2236G>A |
| AA Mutation |
p.Ala746Thr(p.A746T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |