| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000463781 |
| Start |
195780013:195780013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.11567C>G |
| AA Mutation |
p.Pro3856Arg(p.P3856R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000463781 |
| Start |
195761533:195761533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.14565C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000463781 |
| Start |
195787596:195787597(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3983_3984insG |
| AA Mutation |
p.Leu1329SerfsTer5(p.L1329Sfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |