| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254043 |
| Start |
41516933:41516933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138271368
|
| CDS Mutation |
c.613G>A |
| AA Mutation |
p.Val205Ile(p.V205I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254043 |
| Start |
41515652:41515652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778748722
|
| CDS Mutation |
c.1067G>A |
| AA Mutation |
p.Arg356His(p.R356H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254043 |
| Start |
41518569:41518569(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.259G>T |
| AA Mutation |
p.Gly87Trp(p.G87W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |