| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327367 |
| Start |
67190505:67190505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1247C>T |
| AA Mutation |
p.Ser416Phe(p.S416F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327367 |
| Start |
67181441:67181441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs387906850
|
| CDS Mutation |
c.859C>T |
| AA Mutation |
p.Arg287Trp(p.R287W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327367 |
| Start |
67187412:67187412(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1057G>T |
| AA Mutation |
p.Ala353Ser(p.A353S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |