| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373960 |
| Start |
219421464:219421464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1148G>A |
| AA Mutation |
p.Arg383His(p.R383H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373960 |
| Start |
219425728:219425728(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1354G>A |
| AA Mutation |
p.Glu452Lys(p.E452K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373960 |
| Start |
219421462:219421462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1146C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |