| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217026 |
| Start |
43715231:43715231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1922A>T |
| AA Mutation |
p.Glu641Val(p.E641V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217026 |
| Start |
43702871:43702871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1333C>G |
| AA Mutation |
p.Pro445Ala(p.P445A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000217026 |
| Start |
43710044:43710044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768925904
|
| CDS Mutation |
c.1587C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |