| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378909 |
| Start |
34623477:34623477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.813C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378909 |
| Start |
34627743:34627743(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.272delC |
| AA Mutation |
p.Pro91LeufsTer44(p.P91Lfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000378909 |
| Start |
34625740:34625741(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.391+1dupG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |