| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314531 |
| Start |
2933565:2933565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1562A>G |
| AA Mutation |
p.Glu521Gly(p.E521G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000314531 |
| Start |
2934025:2934025(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61740279
|
| CDS Mutation |
c.1102C>T |
| AA Mutation |
p.Arg368Ter(p.R368*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000314531 |
| Start |
2933666:2933668(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1459_1461delAGT |
| AA Mutation |
p.Ser487del(p.S487del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |