| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333891 |
| Start |
83156265:83156265(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.376C>A |
| AA Mutation |
p.Pro126Thr(p.P126T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333891 |
| Start |
82915812:82915812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12174A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000333891 |
| Start |
82847144:82847145(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.13757dupT |
| AA Mutation |
p.Arg4587LysfsTer11(p.R4587Kfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |