| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000241416 |
| Start |
147926117:147926118(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1309_1310delAA |
| AA Mutation |
p.Lys437GlufsTer19(p.K437Efs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000241416 |
| Start |
147899874:147899874(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.504C>A |
| AA Mutation |
p.Tyr168Ter(p.Y168*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000241416 |
| Start |
147899568:147899569(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.373+2dupT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |