| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219334 |
| Start |
68370885:68370885(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1297G>A |
| AA Mutation |
p.Ala433Thr(p.A433T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219334 |
| Start |
68371566:68371566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.616A>T |
| AA Mutation |
p.Arg206Trp(p.R206W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219334 |
| Start |
68371556:68371556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.626C>T |
| AA Mutation |
p.Ser209Phe(p.S209F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |