| ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000253339 |
| Start |
149683247:149683247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1842T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000253339 |
| Start |
149684440:149684443(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.646_649delTCTG |
| AA Mutation |
p.Ser216AspfsTer18(p.S216Dfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000253339 |
| Start |
149684319:149684319(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.770delC |
| AA Mutation |
p.Pro257LeufsTer28(p.P257Lfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |