| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372966 |
| Start |
100870724:100870724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757688304
|
| CDS Mutation |
c.136C>T |
| AA Mutation |
p.Leu46Phe(p.L46F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372966 |
| Start |
100844027:100844027(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1620G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372966 |
| Start |
100862709:100862709(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.449delA |
| AA Mutation |
p.Lys150ArgfsTer6(p.K150Rfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |