| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405431 |
| Start |
74946836:74946836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.505T>C |
| AA Mutation |
p.Cys169Arg(p.C169R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405431 |
| Start |
74948519:74948519(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764795497
|
| CDS Mutation |
c.380G>A |
| AA Mutation |
p.Arg127His(p.R127H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405431 |
| Start |
74949494:74949494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.178G>A |
| AA Mutation |
p.Asp60Asn(p.D60N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |