| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35717325:35717325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2279A>T |
| AA Mutation |
p.Asp760Val(p.D760V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35703776:35703776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6356A>G |
| AA Mutation |
p.Lys2119Arg(p.K2119R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35703659:35703659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6375G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |