| ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312527 |
| Start |
134383809:134383809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.492G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312527 |
| Start |
134383968:134383968(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.333delC |
| AA Mutation |
p.His111GlnfsTer19(p.H111Qfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312527 |
| Start |
134384171:134384171(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.130delC |
| AA Mutation |
p.Arg44AspfsTer46(p.R44Dfs*46) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |