| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000001008 |
| Start |
2801314:2801314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762943432
|
| CDS Mutation |
c.1230C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000001008 |
| Start |
2798756:2798756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.444C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000001008 |
| Start |
2797845:2797845(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.372delC |
| AA Mutation |
p.Asn125MetfsTer18(p.N125Mfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |