| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303296 |
| Start |
33348175:33348175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2316G>C |
| AA Mutation |
p.Leu772Phe(p.L772F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303296 |
| Start |
33351715:33351715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2915A>T |
| AA Mutation |
p.Asp972Val(p.D972V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303296 |
| Start |
33352168:33352168(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3074G>A |
| AA Mutation |
p.Arg1025Gln(p.R1025Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |