| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290295 |
| Start |
48726873:48726873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759838136
|
| CDS Mutation |
c.772C>T |
| AA Mutation |
p.Arg258Cys(p.R258C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000290295 |
| Start |
48728291:48728291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.303C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000290295 |
| Start |
48728522:48728522(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.72delG |
| AA Mutation |
p.Arg25GlyfsTer9(p.R25Gfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |