| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45713739:45713739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3104T>G |
| AA Mutation |
p.Phe1035Cys(p.F1035C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45660102:45660102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149589767
|
| CDS Mutation |
c.1368G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000297323 |
| Start |
45574939:45574941(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.397_399delTTC |
| AA Mutation |
p.Phe133del(p.F133del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |