| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216677149:216677149(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.399C>G |
| AA Mutation |
p.Asp133Glu(p.D133E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216568011:216568011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.677T>A |
| AA Mutation |
p.Leu226Gln(p.L226Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216507185:216507185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1133-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |