| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000465342 |
| Start |
127416246:127416246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.380A>G |
| AA Mutation |
p.Glu127Gly(p.E127G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000465342 |
| Start |
127416397:127416397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.531G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000465342 |
| Start |
127415932:127415954(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.66_88delATGGGGGGCGGAGCCGGGCTGGG |
| AA Mutation |
p.Trp23Ter(p.W23*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |