| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126114646:126114646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1993A>T |
| AA Mutation |
p.Ser665Cys(p.S665C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126125707:126125707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1709T>C |
| AA Mutation |
p.Ile570Thr(p.I570T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126137867:126137867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1170G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |