| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357632 |
| Start |
45901572:45901572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202070482
|
| CDS Mutation |
c.784G>A |
| AA Mutation |
p.Val262Ile(p.V262I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357632 |
| Start |
45901782:45901782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.994C>A |
| AA Mutation |
p.Leu332Met(p.L332M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357632 |
| Start |
45901765:45901765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201410158
|
| CDS Mutation |
c.977G>A |
| AA Mutation |
p.Arg326Gln(p.R326Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |