| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000433211 |
| Start |
67647509:67647509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5C>T |
| AA Mutation |
p.Ser2Leu(p.S2L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000433211 |
| Start |
67539544:67539544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.418G>C |
| AA Mutation |
p.Asp140His(p.D140H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000433211 |
| Start |
65966696:65966696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2316T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |