| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35721829:35721829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1220A>C |
| AA Mutation |
p.Lys407Thr(p.K407T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35729522:35729522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1445T>A |
| AA Mutation |
p.Leu482His(p.L482H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35737256:35737256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566433210
|
| CDS Mutation |
c.1538T>C |
| AA Mutation |
p.Met513Thr(p.M513T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |