| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381405 |
| Start |
54982016:54982016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.432C>A |
| AA Mutation |
p.Asn144Lys(p.N144K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381405 |
| Start |
54985271:54985271(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.247T>G |
| AA Mutation |
p.Cys83Gly(p.C83G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381405 |
| Start |
54985255:54985255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.263G>T |
| AA Mutation |
p.Gly88Val(p.G88V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |