| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292301 |
| Start |
46357634:46357634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.107A>T |
| AA Mutation |
p.Asp36Val(p.D36V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000292301 |
| Start |
46357594:46357594(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.72delT |
| AA Mutation |
p.Phe24LeufsTer14(p.F24Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000292301 |
| Start |
46357528:46357528(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1A>G |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |