| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258526 |
| Start |
94298683:94298683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4126C>T |
| AA Mutation |
p.Pro1376Ser(p.P1376S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258526 |
| Start |
94303861:94303861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4492T>G |
| AA Mutation |
p.Ser1498Ala(p.S1498A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258526 |
| Start |
94149657:94149657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.686C>T |
| AA Mutation |
p.Ala229Val(p.A229V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |