| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110236190:110236190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200525150
|
| CDS Mutation |
c.1253C>T |
| AA Mutation |
p.Ala418Val(p.A418V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110231895:110231895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1726C>T |
| AA Mutation |
p.Arg576Cys(p.R576C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110257799:110257799(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.666T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |