| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392027 |
| Start |
232381271:232381271(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1213C>T |
| AA Mutation |
p.Arg405Trp(p.R405W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392027 |
| Start |
232380961:232380961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1122C>A |
| AA Mutation |
p.Ser374Arg(p.S374R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392027 |
| Start |
232381654:232381654(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1468delC |
| AA Mutation |
p.Leu490TrpfsTer100(p.L490Wfs*100) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |