| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000450565 |
| Start |
909504:909504(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.400G>C |
| AA Mutation |
p.Asp134His(p.D134H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000450565 |
| Start |
908354:908354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772983512
|
| CDS Mutation |
c.332G>A |
| AA Mutation |
p.Arg111Gln(p.R111Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000450565 |
| Start |
909592:909592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.488A>C |
| AA Mutation |
p.Lys163Thr(p.K163T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |