| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000307227 |
| Start |
67375816:67375816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1227A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000307227 |
| Start |
67518319:67518319(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.588T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000307227 |
| Start |
67520538:67520538(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.514delC |
| AA Mutation |
p.Gln172ArgfsTer28(p.Q172Rfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |