| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520539 |
| Start |
102279196:102279196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6014A>T |
| AA Mutation |
p.Asn2005Ile(p.N2005I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520539 |
| Start |
102311815:102311815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2338C>G |
| AA Mutation |
p.Gln780Glu(p.Q780E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000520539 |
| Start |
102288252:102288252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4728G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |