| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334136 |
| Start |
48818387:48818387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2162G>A |
| AA Mutation |
p.Arg721His(p.R721H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334136 |
| Start |
48805635:48805635(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782747542
|
| CDS Mutation |
c.401G>A |
| AA Mutation |
p.Arg134Gln(p.R134Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334136 |
| Start |
48820236:48820236(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs186499554
|
| CDS Mutation |
c.2318G>A |
| AA Mutation |
p.Arg773His(p.R773H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |