| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000315869 |
| Start |
49030441:49030441(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1445delG |
| AA Mutation |
p.Gly482AspfsTer44(p.G482Dfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000315869 |
| Start |
49033526:49033526(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1075C>T |
| AA Mutation |
p.Arg359Ter(p.R359*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000315869 |
| Start |
49033724:49033724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1060+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |