| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000188790 |
| Start |
162174951:162174951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141879753
|
| CDS Mutation |
c.1885G>A |
| AA Mutation |
p.Val629Ile(p.V629I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000188790 |
| Start |
162171038:162171038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2224A>T |
| AA Mutation |
p.Asn742Tyr(p.N742Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000188790 |
| Start |
162198764:162198764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1395C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |