| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000227868 |
| Start |
34970179:34970179(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.857T>A |
| AA Mutation |
p.Val286Asp(p.V286D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000227868 |
| Start |
34970210:34970210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.888T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000227868 |
| Start |
34966764:34966764(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.769delC |
| AA Mutation |
p.Arg257GlyfsTer3(p.R257Gfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |