| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309100 |
| Start |
65607473:65607473(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1286G>A |
| AA Mutation |
p.Arg429His(p.R429H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309100 |
| Start |
65606036:65606036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764566604
|
| CDS Mutation |
c.1649G>A |
| AA Mutation |
p.Arg550Gln(p.R550Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309100 |
| Start |
65613385:65613385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.372C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |