| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287936 |
| Start |
75356433:75356433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1971G>T |
| AA Mutation |
p.Met657Ile(p.M657I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287936 |
| Start |
75343937:75343937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.250C>T |
| AA Mutation |
p.Arg84Cys(p.R84C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000287936 |
| Start |
75359506:75359506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2407G>T |
| AA Mutation |
p.Gly803Ter(p.G803*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |