| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280187 |
| Start |
175673812:175673812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.255C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280187 |
| Start |
175673794:175673794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758575502
|
| CDS Mutation |
c.273G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000280187 |
| Start |
175635002:175635004(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.738_740delCCG |
| AA Mutation |
p.Cys246_Arg247delinsTrp(p.C246_R247delinsW) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |