| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000569840 |
| Start |
76905245:76905245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.767A>G |
| AA Mutation |
p.Lys256Arg(p.K256R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000569840 |
| Start |
76924988:76924988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1048C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000569840 |
| Start |
76940494:76940494(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1677delG |
| AA Mutation |
p.His561ThrfsTer53(p.H561Tfs*53) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |