| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226760 |
| Start |
6300787:6300787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.992T>A |
| AA Mutation |
p.Phe331Tyr(p.F331Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226760 |
| Start |
6277609:6277609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs111773340
|
| CDS Mutation |
c.154C>T |
| AA Mutation |
p.Pro52Ser(p.P52S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226760 |
| Start |
6301923:6301923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2128A>C |
| AA Mutation |
p.Thr710Pro(p.T710P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |