| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256759 |
| Start |
53485089:53485089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.814G>A |
| AA Mutation |
p.Glu272Lys(p.E272K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256759 |
| Start |
53485013:53485013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.738A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000256759 |
| Start |
53485034:53485035(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.765dupA |
| AA Mutation |
p.Cys256MetfsTer16(p.C256Mfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |