| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330710 |
| Start |
99652770:99652770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200138544
|
| CDS Mutation |
c.802G>A |
| AA Mutation |
p.Val268Ile(p.V268I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330710 |
| Start |
99662980:99662980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1607A>C |
| AA Mutation |
p.Asn536Thr(p.N536T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330710 |
| Start |
99657066:99657066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140994822
|
| CDS Mutation |
c.969C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |