| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298694 |
| Start |
21087323:21087323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4247C>T |
| AA Mutation |
p.Ala1416Val(p.A1416V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298694 |
| Start |
21073085:21073085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.44C>T |
| AA Mutation |
p.Ala15Val(p.A15V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298694 |
| Start |
21076436:21076436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1816C>T |
| AA Mutation |
p.Pro606Ser(p.P606S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |