| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000448775 |
| Start |
123084541:123084541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.359T>G |
| AA Mutation |
p.Val120Gly(p.V120G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000448775 |
| Start |
123084579:123084579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.321C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000448775 |
| Start |
123083089:123083094(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.670_675delACTGTA |
| AA Mutation |
p.Thr224_Val225del(p.T224_V225del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |