| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253754 |
| Start |
132271824:132271824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs557597794
|
| CDS Mutation |
c.704T>A |
| AA Mutation |
p.Leu235His(p.L235H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253754 |
| Start |
132271862:132271862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766802234
|
| CDS Mutation |
c.742G>A |
| AA Mutation |
p.Gly248Ser(p.G248S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000253754 |
| Start |
132271366:132271366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.570G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |