| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343932 |
| Start |
74752145:74752145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1064G>T |
| AA Mutation |
p.Arg355Leu(p.R355L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343932 |
| Start |
74749921:74749921(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.183G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343932 |
| Start |
74750440:74750440(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.706delC |
| AA Mutation |
p.Leu236TrpfsTer99(p.L236Wfs*99) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |