| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222553 |
| Start |
106251181:106251181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1378A>G |
| AA Mutation |
p.Thr460Ala(p.T460A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222553 |
| Start |
106253121:106253121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1261C>A |
| AA Mutation |
p.Pro421Thr(p.P421T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222553 |
| Start |
106268520:106268520(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.687delA |
| AA Mutation |
p.Lys229AsnfsTer22(p.K229Nfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |