| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316361 |
| Start |
110603998:110603998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.785C>T |
| AA Mutation |
p.Ala262Val(p.A262V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316361 |
| Start |
110604370:110604370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.413G>A |
| AA Mutation |
p.Arg138His(p.R138H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316361 |
| Start |
110604566:110604566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.217C>T |
| AA Mutation |
p.Arg73Ter(p.R73*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |