| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000447346 |
| Start |
55916890:55916890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2065C>A |
| AA Mutation |
p.Leu689Ile(p.L689I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000447346 |
| Start |
55890016:55890016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.653A>G |
| AA Mutation |
p.Tyr218Cys(p.Y218C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000447346 |
| Start |
55868828:55868828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.192C>A |
| AA Mutation |
p.Tyr64Ter(p.Y64*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |