| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378209 |
| Start |
3883671:3883671(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.947G>A |
| AA Mutation |
p.Cys316Tyr(p.C316Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378209 |
| Start |
3858729:3858729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.126C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378209 |
| Start |
3883588:3883588(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.868delT |
| AA Mutation |
p.Tyr290MetfsTer10(p.Y290Mfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |