| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409138 |
| Start |
109281749:109281749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.389C>T |
| AA Mutation |
p.Thr130Ile(p.T130I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409138 |
| Start |
109280946:109280946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.825T>A |
| AA Mutation |
p.Ser275Arg(p.S275R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409138 |
| Start |
109280987:109280987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374878696
|
| CDS Mutation |
c.784C>T |
| AA Mutation |
p.Arg262Cys(p.R262C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |