| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344876 |
| Start |
137529620:137529620(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2469C>A |
| AA Mutation |
p.His823Gln(p.H823Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344876 |
| Start |
137530729:137530729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1360C>A |
| AA Mutation |
p.Gln454Lys(p.Q454K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344876 |
| Start |
137531396:137531396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.693A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |