| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449682 |
| Start |
49686774:49686774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.757T>C |
| AA Mutation |
p.Tyr253His(p.Y253H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449682 |
| Start |
49685329:49685329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150169514
|
| CDS Mutation |
c.1477C>T |
| AA Mutation |
p.Arg493Cys(p.R493C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449682 |
| Start |
49684321:49684321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2009C>T |
| AA Mutation |
p.Ala670Val(p.A670V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |