| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000246635 |
| Start |
41503376:41503376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.646G>C |
| AA Mutation |
p.Asp216His(p.D216H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000246635 |
| Start |
41503421:41503421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746117318
|
| CDS Mutation |
c.601C>T |
| AA Mutation |
p.Arg201Cys(p.R201C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000246635 |
| Start |
41502783:41502783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.927C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |