| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000232003 |
| Start |
186677648:186677648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149578094
|
| CDS Mutation |
c.1343G>A |
| AA Mutation |
p.Arg448His(p.R448H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000232003 |
| Start |
186677686:186677686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1381C>T |
| AA Mutation |
p.Leu461Phe(p.L461F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000232003 |
| Start |
186677857:186677857(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1557delT |
| AA Mutation |
p.Phe519LeufsTer10(p.F519Lfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |