| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226328 |
| Start |
70788917:70788917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373555907
|
| CDS Mutation |
c.1183C>T |
| AA Mutation |
p.Arg395Trp(p.R395W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226328 |
| Start |
70775211:70775211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.802G>A |
| AA Mutation |
p.Glu268Lys(p.E268K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000226328 |
| Start |
70768559:70768559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.594C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |