| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217961 |
| Start |
7305118:7305118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1031G>A |
| AA Mutation |
p.Gly344Glu(p.G344E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217961 |
| Start |
7349965:7349965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1456G>A |
| AA Mutation |
p.Val486Met(p.V486M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217961 |
| Start |
7334084:7334084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1355C>A |
| AA Mutation |
p.Ala452Asp(p.A452D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |