| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228307 |
| Start |
120214201:120214201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1295T>A |
| AA Mutation |
p.Leu432His(p.L432H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228307 |
| Start |
120214187:120214187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1309C>T |
| AA Mutation |
p.His437Tyr(p.H437Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000228307 |
| Start |
120214912:120214912(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746357371
|
| CDS Mutation |
c.1191C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |