| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343537 |
| Start |
223814269:223814269(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.260G>T |
| AA Mutation |
p.Arg87Leu(p.R87L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343537 |
| Start |
223795904:223795904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2635C>A |
| AA Mutation |
p.Pro879Thr(p.P879T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343537 |
| Start |
223789078:223789078(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3093C>A |
| AA Mutation |
p.Asp1031Glu(p.D1031E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |