| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273183 |
| Start |
36443408:36443408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.156A>T |
| AA Mutation |
p.Leu52Phe(p.L52F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273183 |
| Start |
36443553:36443553(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.301C>G |
| AA Mutation |
p.Leu101Val(p.L101V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000273183 |
| Start |
36493186:36493186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199675015
|
| CDS Mutation |
c.723T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |