| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373825 |
| Start |
35869882:35869882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1011C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373825 |
| Start |
35835445:35835445(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1827delT |
| AA Mutation |
p.Phe609LeufsTer4(p.F609Lfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000373825 |
| Start |
35886722:35886722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.478+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |