| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000238994 |
| Start |
91630631:91630631(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377306002
|
| CDS Mutation |
c.250C>T |
| AA Mutation |
p.Arg84Cys(p.R84C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000238994 |
| Start |
91630217:91630217(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.664T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000238994 |
| Start |
91629976:91629976(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.905delC |
| AA Mutation |
p.Pro302GlnfsTer35(p.P302Qfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |