| ID |
1 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000518547 |
| Start |
124585088:124585088(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.459delA |
| AA Mutation |
p.Arg155GlufsTer34(p.R155Efs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000518547 |
| Start |
124556339:124556339(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1297C>T |
| AA Mutation |
p.Arg433Ter(p.R433*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000518547 |
| Start |
124704129:124704129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.134+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |