| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68069080:68069080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1387C>T |
| AA Mutation |
p.Arg463Cys(p.R463C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68121013:68121013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143386950
|
| CDS Mutation |
c.3688C>T |
| AA Mutation |
p.Arg1230Trp(p.R1230W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68053130:68053130(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.977A>G |
| AA Mutation |
p.Asn326Ser(p.N326S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |