| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336148 |
| Start |
94378206:94378206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2489A>T |
| AA Mutation |
p.Glu830Val(p.E830V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336148 |
| Start |
94387119:94387119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1850A>G |
| AA Mutation |
p.Lys617Arg(p.K617R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336148 |
| Start |
94391848:94391849(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1569_1570delTG |
| AA Mutation |
p.Gly524ThrfsTer5(p.G524Tfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |