| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276533 |
| Start |
41541861:41541861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.537A>C |
| AA Mutation |
p.Gln179His(p.Q179H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000276533 |
| Start |
41541997:41541997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749526438
|
| CDS Mutation |
c.582C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000276533 |
| Start |
41539728:41539728(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.352delG |
| AA Mutation |
p.Glu118SerfsTer24(p.E118Sfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |