| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000346618 |
| Start |
20490256:20490256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1224G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000346618 |
| Start |
20490193:20490193(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1161delT |
| AA Mutation |
p.His387GlnfsTer32(p.H387Qfs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000346618 |
| Start |
20490195:20490204(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1163_1172delGCGATTGCTC |
| AA Mutation |
p.Ser388LysfsTer28(p.S388Kfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |