| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334444 |
| Start |
183953113:183953113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2640G>C |
| AA Mutation |
p.Leu880Phe(p.L880F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334444 |
| Start |
183971774:183971774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1550A>T |
| AA Mutation |
p.Lys517Ile(p.K517I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334444 |
| Start |
183947374:183947374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745507480
|
| CDS Mutation |
c.3364G>A |
| AA Mutation |
p.Gly1122Arg(p.G1122R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |