| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299855 |
| Start |
102842529:102842529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.401T>A |
| AA Mutation |
p.Val134Asp(p.V134D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299855 |
| Start |
102842846:102842846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.176C>T |
| AA Mutation |
p.Pro59Leu(p.P59L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000299855 |
| Start |
102842580:102842580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.351-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |