| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264183 |
| Start |
235260718:235260718(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.41C>G |
| AA Mutation |
p.Thr14Ser(p.T14S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264183 |
| Start |
235194082:235194082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2056G>C |
| AA Mutation |
p.Asp686His(p.D686H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264183 |
| Start |
235181917:235181918(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3001dupA |
| AA Mutation |
p.Thr1001AsnfsTer6(p.T1001Nfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |