| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283635 |
| Start |
86789397:86789397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771963865
|
| CDS Mutation |
c.551A>G |
| AA Mutation |
p.Tyr184Cys(p.Y184C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283635 |
| Start |
86790421:86790421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.310G>T |
| AA Mutation |
p.Asp104Tyr(p.D104Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000283635 |
| Start |
86789420:86789420(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.528delG |
| AA Mutation |
p.Leu177TrpfsTer115(p.L177Wfs*115) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |