| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375241 |
| Start |
96523360:96523360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1146G>C |
| AA Mutation |
p.Glu382Asp(p.E382D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375241 |
| Start |
96533966:96533966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.907T>C |
| AA Mutation |
p.Cys303Arg(p.C303R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000375241 |
| Start |
96523727:96523727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.947-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |