| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376734 |
| Start |
30112544:30112544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.262T>C |
| AA Mutation |
p.Ser88Pro(p.S88P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376734 |
| Start |
30112607:30112607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.199T>C |
| AA Mutation |
p.Phe67Leu(p.F67L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376734 |
| Start |
30103560:30103560(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1254G>T |
| AA Mutation |
p.Trp418Cys(p.W418C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |