| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262544 |
| Start |
18510848:18510848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.13C>G |
| AA Mutation |
p.Leu5Val(p.L5V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262544 |
| Start |
18510975:18510975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.140A>G |
| AA Mutation |
p.Glu47Gly(p.E47G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262544 |
| Start |
18525929:18525929(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.832delG |
| AA Mutation |
p.Glu278ArgfsTer31(p.E278Rfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |