| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374855 |
| Start |
101429843:101429843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.236T>G |
| AA Mutation |
p.Leu79Arg(p.L79R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374855 |
| Start |
101425568:101425568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.684G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant;intron_variant |
| Transcription ID |
ENST00000374855 |
| Start |
101430773:101430774(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.112+2_112+3delTG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |