| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55163040:55163040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1584C>G |
| AA Mutation |
p.Ile528Met(p.I528M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55183666:55183666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.326A>T |
| AA Mutation |
p.Gln109Leu(p.Q109L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55151729:55151729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2334C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |