| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372037 |
| Start |
86899798:86899798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.338C>A |
| AA Mutation |
p.Ser113Tyr(p.S113Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000372037 |
| Start |
86890061:86890061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.68-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000372037 |
| Start |
86876020:86876020(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2T>C |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |