| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372764 |
| Start |
73913375:73913375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755703595
|
| CDS Mutation |
c.454G>A |
| AA Mutation |
p.Ala152Thr(p.A152T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372764 |
| Start |
73914007:73914007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755479753
|
| CDS Mutation |
c.708C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372764 |
| Start |
73913679:73913680(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs746954980
|
| CDS Mutation |
c.608dupG |
| AA Mutation |
p.Ser204LeufsTer25(p.S204Lfs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |