Gene >> SORT1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256637 |
| Start |
109340865:109340865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1123A>G |
| AA Mutation |
p.Thr375Ala(p.T375A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256637 |
| Start |
109316861:109316861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2239C>T |
| AA Mutation |
p.Pro747Ser(p.P747S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |