| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217169 |
| Start |
63236190:63236190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768709953
|
| CDS Mutation |
c.94C>A |
| AA Mutation |
p.Pro32Thr(p.P32T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217169 |
| Start |
63237926:63237926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.373T>A |
| AA Mutation |
p.Phe125Ile(p.F125I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000217169 |
| Start |
63236177:63236177(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.82delG |
| AA Mutation |
p.Glu28SerfsTer13(p.E28Sfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |