| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264731 |
| Start |
189631534:189631534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376627647
|
| CDS Mutation |
c.19C>T |
| AA Mutation |
p.Arg7Trp(p.R7W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264731 |
| Start |
189872947:189872947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs558374141
|
| CDS Mutation |
c.1301C>T |
| AA Mutation |
p.Thr434Met(p.T434M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264731 |
| Start |
189808363:189808363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751300168
|
| CDS Mutation |
c.416C>T |
| AA Mutation |
p.Ala139Val(p.A139V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |