| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261531 |
| Start |
77720816:77720816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1143G>C |
| AA Mutation |
p.Gln381His(p.Q381H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261531 |
| Start |
77735980:77735980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.665C>G |
| AA Mutation |
p.Pro222Arg(p.P222R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261531 |
| Start |
77732521:77732521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.855C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |