| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370466 |
| Start |
89121234:89121234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.227A>G |
| AA Mutation |
p.Lys76Arg(p.K76R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370466 |
| Start |
89108202:89108202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1749A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370466 |
| Start |
89114081:89114082(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1082_1083dupAG |
| AA Mutation |
p.Ala362ArgfsTer7(p.A362Rfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |