| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316843 |
| Start |
18230025:18230025(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.166G>A |
| AA Mutation |
p.Gly56Arg(p.G56R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316843 |
| Start |
18234376:18234376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs572067853
|
| CDS Mutation |
c.818C>T |
| AA Mutation |
p.Thr273Met(p.T273M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316843 |
| Start |
18234672:18234672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.874A>G |
| AA Mutation |
p.Asn292Asp(p.N292D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |