| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318602 |
| Start |
9101456:9101456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1485C>G |
| AA Mutation |
p.Phe495Leu(p.F495L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318602 |
| Start |
9099483:9099483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1599C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000318602 |
| Start |
9113358:9113358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.270+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |