| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310260 |
| Start |
115664091:115664091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.635G>A |
| AA Mutation |
p.Arg212Gln(p.R212Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310260 |
| Start |
115683959:115683959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.962C>T |
| AA Mutation |
p.Ala321Val(p.A321V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310260 |
| Start |
115663965:115663965(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.515delT |
| AA Mutation |
p.Phe172SerfsTer99(p.F172Sfs*99) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |