| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000426466 |
| Start |
53290155:53290155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.220G>A |
| AA Mutation |
p.Gly74Arg(p.G74R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000426466 |
| Start |
53289785:53289785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.590T>G |
| AA Mutation |
p.Ile197Ser(p.I197S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000426466 |
| Start |
53290183:53290183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.192A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |