| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000353533 |
| Start |
12095581:12095581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.400C>T |
| AA Mutation |
p.Arg134Trp(p.R134W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000353533 |
| Start |
12139841:12139841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1043T>G |
| AA Mutation |
p.Leu348Arg(p.L348R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000353533 |
| Start |
12110427:12110427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.685+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |