| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378526 |
| Start |
34991036:34991036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.963G>C |
| AA Mutation |
p.Leu321Phe(p.L321F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378526 |
| Start |
34991109:34991109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1036G>A |
| AA Mutation |
p.Glu346Lys(p.E346K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378526 |
| Start |
34996103:34996103(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1655delG |
| AA Mutation |
p.Gly552AlafsTer4(p.G552Afs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |