| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323571 |
| Start |
40277115:40277115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1213G>A |
| AA Mutation |
p.Val405Ile(p.V405I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000323571 |
| Start |
40264932:40264932(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.756T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000323571 |
| Start |
40273837:40273837(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1022delC |
| AA Mutation |
p.Pro341LeufsTer38(p.P341Lfs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |