| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337304 |
| Start |
39522410:39522410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.864C>G |
| AA Mutation |
p.Asn288Lys(p.N288K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000337304 |
| Start |
39521505:39521505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.60C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000337304 |
| Start |
39521603:39521604(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.160dupG |
| AA Mutation |
p.Ala54GlyfsTer2(p.A54Gfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |