| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000226319 |
| Start |
128862051:128862051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1329T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000226319 |
| Start |
128861897:128861897(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1180delC |
| AA Mutation |
p.Arg394GlyfsTer20(p.R394Gfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000226319 |
| Start |
128861862:128861862(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1144delG |
| AA Mutation |
p.Ala382LeufsTer32(p.A382Lfs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |