| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327968 |
| Start |
23000089:23000089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.32C>T |
| AA Mutation |
p.Ala11Val(p.A11V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327968 |
| Start |
23000303:23000303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.246A>G |
| AA Mutation |
p.Ile82Met(p.I82M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327968 |
| Start |
23000157:23000157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.100G>T |
| AA Mutation |
p.Gly34Cys(p.G34C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |