| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307588 |
| Start |
185458881:185458881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1706T>C |
| AA Mutation |
p.Ile569Thr(p.I569T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307588 |
| Start |
185459836:185459836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751679746
|
| CDS Mutation |
c.751G>A |
| AA Mutation |
p.Glu251Lys(p.E251K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307588 |
| Start |
185459283:185459283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1304T>A |
| AA Mutation |
p.Leu435Gln(p.L435Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |