| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226796170:226796170(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2569C>T |
| AA Mutation |
p.Arg857Trp(p.R857W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226796266:226796266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2473C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226796170:226796170(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2569delC |
| AA Mutation |
p.Arg857GlyfsTer86(p.R857Gfs*86) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |