| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262018 |
| Start |
50166071:50166071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.31C>T |
| AA Mutation |
p.Leu11Phe(p.L11F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262018 |
| Start |
50175350:50175350(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1077C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262018 |
| Start |
50169151:50169151(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.648delC |
| AA Mutation |
p.Asp217IlefsTer31(p.D217Ifs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |