| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370763 |
| Start |
78013452:78013452(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.618delA |
| AA Mutation |
p.Trp208GlyfsTer43(p.W208Gfs*43) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370763 |
| Start |
78013182:78013182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.343C>T |
| AA Mutation |
p.Arg115Ter(p.R115*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370763 |
| Start |
78005174:78005174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.64A>T |
| AA Mutation |
p.Lys22Ter(p.K22*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |