| ID |
6 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000342505 |
| Start |
64866868:64866868(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.988A>T |
| AA Mutation |
p.Asn330Tyr(p.N330Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342505 |
| Start |
64850889:64850889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1670C>T |
| AA Mutation |
p.Ala557Val(p.A557V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342505 |
| Start |
64850890:64850890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1669G>T |
| AA Mutation |
p.Ala557Ser(p.A557S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |