| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269571 |
| Start |
39726824:39726824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2980T>G |
| AA Mutation |
p.Leu994Val(p.L994V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269571 |
| Start |
39723967:39723967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913470
|
| CDS Mutation |
c.2264T>C |
| AA Mutation |
p.Leu755Ser(p.L755S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269571 |
| Start |
39723966:39723966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2263T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |