| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257895 |
| Start |
55724377:55724377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.789G>T |
| AA Mutation |
p.Lys263Asn(p.K263N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257895 |
| Start |
55724482:55724482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.894A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257895 |
| Start |
55724027:55724028(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs753378940
|
| CDS Mutation |
c.718dupG |
| AA Mutation |
p.Ala240GlyfsTer19(p.A240Gfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |