| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376395 |
| Start |
83661885:83661885(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1672G>A |
| AA Mutation |
p.Gly558Arg(p.G558R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000376395 |
| Start |
83683063:83683063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.336T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000376395 |
| Start |
83677725:83677725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1105+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |