| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295754 |
| Start |
30644872:30644872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.220A>G |
| AA Mutation |
p.Thr74Ala(p.T74A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295754 |
| Start |
30644790:30644790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.138G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295754 |
| Start |
30672127:30672128(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.946dupG |
| AA Mutation |
p.Glu316GlyfsTer49(p.E316Gfs*49) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |