| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252505 |
| Start |
3681676:3681676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.341C>T |
| AA Mutation |
p.Ala114Val(p.A114V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252505 |
| Start |
3702514:3702514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1127G>A |
| AA Mutation |
p.Arg376Gln(p.R376Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252505 |
| Start |
3679980:3679980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.284C>T |
| AA Mutation |
p.Ala95Val(p.A95V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |