| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378295 |
| Start |
3683128:3683128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148777835
|
| CDS Mutation |
c.134C>T |
| AA Mutation |
p.Thr45Met(p.T45M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378295 |
| Start |
3730018:3730018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201857112
|
| CDS Mutation |
c.1215G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378295 |
| Start |
3722142:3722148(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.553_559delGAGCACG |
| AA Mutation |
p.Glu185Ter(p.E185*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |