| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260665 |
| Start |
43973692:43973692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1284G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000260665 |
| Start |
43943895:43943895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2297-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000260665 |
| Start |
43899513:43899521(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3654_3662delGGCATACTT |
| AA Mutation |
p.Ala1219_Leu1221del(p.A1219_L1221del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |