| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319349 |
| Start |
43532873:43532873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.612C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000319349 |
| Start |
43532722:43532722(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.763delG |
| AA Mutation |
p.Ala255ArgfsTer4(p.A255Rfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000319349 |
| Start |
43533333:43533333(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.399delC |
| AA Mutation |
p.Arg134AspfsTer30(p.R134Dfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |