| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293308 |
| Start |
52898802:52898802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768679214
|
| CDS Mutation |
c.1079T>C |
| AA Mutation |
p.Leu360Pro(p.L360P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293308 |
| Start |
52898884:52898884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.997G>A |
| AA Mutation |
p.Ala333Thr(p.A333T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000293308 |
| Start |
52901220:52901220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.534-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |