| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37580567:37580567(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200308301
|
| CDS Mutation |
c.1523G>A |
| AA Mutation |
p.Arg508His(p.R508H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37586250:37586250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.784G>A |
| AA Mutation |
p.Ala262Thr(p.A262T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37571407:37571407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2141T>A |
| AA Mutation |
p.Ile714Asn(p.I714N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |