| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368409 |
| Start |
155068970:155068970(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200331554
|
| CDS Mutation |
c.587G>A |
| AA Mutation |
p.Arg196His(p.R196H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368409 |
| Start |
155068912:155068912(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs780583993
|
| CDS Mutation |
c.535delG |
| AA Mutation |
p.Asp179ThrfsTer15(p.D179Tfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368409 |
| Start |
155068978:155068978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760012398
|
| CDS Mutation |
c.595C>T |
| AA Mutation |
p.Arg199Ter(p.R199*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |