| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300086 |
| Start |
75648016:75648016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.134T>C |
| AA Mutation |
p.Leu45Pro(p.L45P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300086 |
| Start |
75648093:75648093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.211C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000300086 |
| Start |
75656422:75656422(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1016delA |
| AA Mutation |
p.Asn339IlefsTer12(p.N339Ifs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |