| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312648 |
| Start |
82316915:82316915(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.149C>A |
| AA Mutation |
p.Thr50Asn(p.T50N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312648 |
| Start |
82316896:82316896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.168G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312648 |
| Start |
82316947:82316947(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.117delC |
| AA Mutation |
p.Val40TrpfsTer20(p.V40Wfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |