| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399907 |
| Start |
29555107:29555107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2552T>A |
| AA Mutation |
p.Phe851Tyr(p.F851Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000399907 |
| Start |
29596562:29596562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374777692
|
| CDS Mutation |
c.1215C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000399907 |
| Start |
29555174:29555176(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2483_2485delGTG |
| AA Mutation |
p.Ser828_Ala829delinsThr(p.S828_A829delinsT) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |