| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316386 |
| Start |
203955884:203955884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.307C>A |
| AA Mutation |
p.His103Asn(p.H103N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316386 |
| Start |
203956759:203956759(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.500delA |
| AA Mutation |
p.Lys167ArgfsTer17(p.K167Rfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316386 |
| Start |
203955930:203955931(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.357dupT |
| AA Mutation |
p.Lys120Ter(p.K120*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |