| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374902 |
| Start |
100327796:100327796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1792C>G |
| AA Mutation |
p.Arg598Gly(p.R598G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000374902 |
| Start |
100303633:100303633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371930194
|
| CDS Mutation |
c.2675C>T |
| AA Mutation |
p.Thr892Met(p.T892M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000374902 |
| Start |
100330171:100330171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1251-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |