| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614010 |
| Start |
122892355:122892355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.826C>A |
| AA Mutation |
p.Gln276Lys(p.Q276K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614010 |
| Start |
122827244:122827244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.469G>A |
| AA Mutation |
p.Gly157Ser(p.G157S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000614010 |
| Start |
122827306:122827306(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.534delC |
| AA Mutation |
p.Asp179ThrfsTer40(p.D179Tfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |