| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310157 |
| Start |
50963415:50963415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.332G>T |
| AA Mutation |
p.Arg111Leu(p.R111L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310157 |
| Start |
50961831:50961831(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.495T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310157 |
| Start |
50959181:50959181(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.718delA |
| AA Mutation |
p.Thr240ProfsTer10(p.T240Pfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |