| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000209875 |
| Start |
54257563:54257563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778228591
|
| CDS Mutation |
c.88G>A |
| AA Mutation |
p.Val30Met(p.V30M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000209875 |
| Start |
54257537:54257537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.114A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000209875 |
| Start |
54252048:54252048(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs780649799
|
| CDS Mutation |
c.317delA |
| AA Mutation |
p.Lys106ArgfsTer31(p.K106Rfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |