| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331320 |
| Start |
105463224:105463224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.983A>G |
| AA Mutation |
p.Tyr328Cys(p.Y328C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331320 |
| Start |
105458289:105458289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.570C>G |
| AA Mutation |
p.Asp190Glu(p.D190E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000331320 |
| Start |
105469901:105469902(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1913dupG |
| AA Mutation |
p.Ser639LeufsTer18(p.S639Lfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |