| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357936 |
| Start |
50499213:50499213(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.811G>T |
| AA Mutation |
p.Asp271Tyr(p.D271Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357936 |
| Start |
50544006:50544006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781573378
|
| CDS Mutation |
c.80G>A |
| AA Mutation |
p.Arg27His(p.R27H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357936 |
| Start |
50463377:50463377(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1297delA |
| AA Mutation |
p.Ile433SerfsTer98(p.I433Sfs*98) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |