| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000490107 |
| Start |
245749631:245749631(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1219G>A |
| AA Mutation |
p.Glu407Lys(p.E407K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000490107 |
| Start |
246335473:246335473(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.230A>G |
| AA Mutation |
p.Lys77Arg(p.K77R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000490107 |
| Start |
245858531:245858531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1041C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |