| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380672 |
| Start |
16436866:16436866(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1328G>C |
| AA Mutation |
p.Cys443Ser(p.C443S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380672 |
| Start |
16437129:16437129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1065C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380672 |
| Start |
16738422:16738422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.67G>T |
| AA Mutation |
p.Glu23Ter(p.E23*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |