| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000524407 |
| Start |
55165997:55165997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200206266
|
| CDS Mutation |
c.89C>A |
| AA Mutation |
p.Pro30His(p.P30H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000524407 |
| Start |
55165389:55165389(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371199276
|
| CDS Mutation |
c.303G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000524407 |
| Start |
55161419:55161419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.664-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |