| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305579 |
| Start |
159995495:159995495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.698T>G |
| AA Mutation |
p.Leu233Arg(p.L233R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305579 |
| Start |
159995512:159995512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756430989
|
| CDS Mutation |
c.715C>T |
| AA Mutation |
p.Arg239Trp(p.R239W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305579 |
| Start |
159989063:159989063(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.11delC |
| AA Mutation |
p.Pro4LeufsTer76(p.P4Lfs*76) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |