| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216133 |
| Start |
39141384:39141384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.166G>A |
| AA Mutation |
p.Ala56Thr(p.A56T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216133 |
| Start |
39138649:39138649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764292269
|
| CDS Mutation |
c.233G>A |
| AA Mutation |
p.Arg78Gln(p.R78Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216133 |
| Start |
39133908:39133908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746842819
|
| CDS Mutation |
c.739C>T |
| AA Mutation |
p.Arg247Cys(p.R247C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |