| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264005 |
| Start |
67940196:67940196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1031C>T |
| AA Mutation |
p.Pro344Leu(p.P344L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264005 |
| Start |
67942565:67942565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.546C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264005 |
| Start |
67942564:67942565(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.546_547insGG |
| AA Mutation |
p.Lys183GlyfsTer82(p.K183Gfs*82) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |