| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000270747 |
| Start |
16206995:16206995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1090A>T |
| AA Mutation |
p.Ser364Cys(p.S364C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000270747 |
| Start |
16204766:16204766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1900C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000270747 |
| Start |
16207124:16207124(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.961delG |
| AA Mutation |
p.Ala321ProfsTer50(p.A321Pfs*50) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |