| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221804 |
| Start |
39735058:39735058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.31G>A |
| AA Mutation |
p.Ala11Thr(p.A11T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221804 |
| Start |
39734404:39734404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140514392
|
| CDS Mutation |
c.182G>A |
| AA Mutation |
p.Arg61His(p.R61H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221804 |
| Start |
39731396:39731396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.413G>A |
| AA Mutation |
p.Ser138Asn(p.S138N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |