| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260645 |
| Start |
43824335:43824335(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1002T>G |
| AA Mutation |
p.Ile334Met(p.I334M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260645 |
| Start |
43826445:43826445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.711A>C |
| AA Mutation |
p.Glu237Asp(p.E237D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260645 |
| Start |
43814516:43814516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746277612
|
| CDS Mutation |
c.1723C>G |
| AA Mutation |
p.Leu575Val(p.L575V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |