| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318560 |
| Start |
130862988:130862988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.775G>A |
| AA Mutation |
p.Gly259Ser(p.G259S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000318560 |
| Start |
130874869:130874869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1087G>C |
| AA Mutation |
p.Asp363His(p.D363H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318560 |
| Start |
130884720:130884720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs529175662
|
| CDS Mutation |
c.2430G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |