| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342213 |
| Start |
38255322:38255322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772465937
|
| CDS Mutation |
c.701G>A |
| AA Mutation |
p.Arg234His(p.R234H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342213 |
| Start |
38255445:38255445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.578G>A |
| AA Mutation |
p.Arg193His(p.R193H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342213 |
| Start |
38255110:38255110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.913C>T |
| AA Mutation |
p.Arg305Cys(p.R305C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |