| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000285379 |
| Start |
85474368:85474368(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.396A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000285379 |
| Start |
85474406:85474406(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.440delT |
| AA Mutation |
p.Leu147Ter(p.L147*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000285379 |
| Start |
85465287:85465288(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.51dupT |
| AA Mutation |
p.Lys18Ter(p.K18*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |