| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000482108 |
| Start |
94663972:94663972(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375994845
|
| CDS Mutation |
c.416G>A |
| AA Mutation |
p.Arg139His(p.R139H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000482108 |
| Start |
94664107:94664107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.551A>G |
| AA Mutation |
p.Tyr184Cys(p.Y184C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000482108 |
| Start |
94664189:94664189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.633C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |