| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274473 |
| Start |
127435445:127435445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2060C>T |
| AA Mutation |
p.Ser687Phe(p.S687F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274473 |
| Start |
127445496:127445496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138372925
|
| CDS Mutation |
c.2531G>A |
| AA Mutation |
p.Arg844Gln(p.R844Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000274473 |
| Start |
127435490:127435490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2104+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |