| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295113 |
| Start |
182834856:182834856(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138459633
|
| CDS Mutation |
c.971G>A |
| AA Mutation |
p.Arg324His(p.R324H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295113 |
| Start |
182866360:182866360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.193G>A |
| AA Mutation |
p.Ala65Thr(p.A65T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295113 |
| Start |
182866351:182866351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778534128
|
| CDS Mutation |
c.202G>A |
| AA Mutation |
p.Ala68Thr(p.A68T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |