| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000329143 |
| Start |
82933311:82933311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369733646
|
| CDS Mutation |
c.1973A>G |
| AA Mutation |
p.Asn658Ser(p.N658S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000329143 |
| Start |
82932810:82932810(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1472G>A |
| AA Mutation |
p.Ser491Asn(p.S491N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000329143 |
| Start |
82933014:82933015(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1676_1677delTC |
| AA Mutation |
p.Ile559LysfsTer9(p.I559Kfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |