| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9526220:9526220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.644G>C |
| AA Mutation |
p.Arg215Thr(p.R215T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9535901:9535901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.383T>C |
| AA Mutation |
p.Leu128Pro(p.L128P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9490478:9490478(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147275585
|
| CDS Mutation |
c.2174G>A |
| AA Mutation |
p.Arg725His(p.R725H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |