| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260682 |
| Start |
94949255:94949255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.790A>G |
| AA Mutation |
p.Ile264Val(p.I264V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260682 |
| Start |
94949188:94949188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.723A>C |
| AA Mutation |
p.Lys241Asn(p.K241N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260682 |
| Start |
94986120:94986120(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1237C>A |
| AA Mutation |
p.Leu413Met(p.L413M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |