| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27717483:27717483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1648A>T |
| AA Mutation |
p.Ile550Phe(p.I550F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27722110:27722110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.185A>T |
| AA Mutation |
p.Glu62Val(p.E62V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27721690:27721690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.605C>A |
| AA Mutation |
p.Pro202Gln(p.P202Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |