| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358015 |
| Start |
107306604:107306604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.454C>G |
| AA Mutation |
p.Pro152Ala(p.P152A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358015 |
| Start |
107318848:107318848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.650A>G |
| AA Mutation |
p.Asn217Ser(p.N217S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358015 |
| Start |
107300205:107300205(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.135delA |
| AA Mutation |
p.Lys45AsnfsTer2(p.K45Nfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |