| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317201 |
| Start |
27110282:27110282(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.359delC |
| AA Mutation |
p.Pro120ArgfsTer40(p.P120Rfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317201 |
| Start |
27108343:27108343(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.904delC |
| AA Mutation |
p.Gln302ArgfsTer74(p.Q302Rfs*74) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000317201 |
| Start |
27110154:27110154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.487C>T |
| AA Mutation |
p.Arg163Ter(p.R163*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |