| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370751 |
| Start |
78628979:78628979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.507G>T |
| AA Mutation |
p.Lys169Asn(p.K169N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370751 |
| Start |
78637120:78637120(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.965T>A |
| AA Mutation |
p.Val322Asp(p.V322D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370751 |
| Start |
78628160:78628160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781138097
|
| CDS Mutation |
c.245C>T |
| AA Mutation |
p.Ser82Phe(p.S82F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |