| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147620501:147620501(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2346A>T |
| AA Mutation |
p.Arg782Ser(p.R782S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147614613:147614613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.557A>G |
| AA Mutation |
p.Asn186Ser(p.N186S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147619605:147619606(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1452dupG |
| AA Mutation |
p.Arg485GlufsTer39(p.R485Efs*39) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |