| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000203630 |
| Start |
6748922:6748922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765730961
|
| CDS Mutation |
c.620G>A |
| AA Mutation |
p.Arg207His(p.R207H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000203630 |
| Start |
6751945:6751945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.160G>A |
| AA Mutation |
p.Ala54Thr(p.A54T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000203630 |
| Start |
6750273:6750273(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.303C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |