| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307102 |
| Start |
66444668:66444668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.529C>A |
| AA Mutation |
p.Leu177Met(p.L177M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307102 |
| Start |
66481793:66481793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.607G>A |
| AA Mutation |
p.Glu203Lys(p.E203K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000307102 |
| Start |
66481819:66481819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.633C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |