| ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000171111 |
| Start |
10491814:10491838(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1064_1088delTGGCGGACCTGCAGGTGCCGCGGAG |
| AA Mutation |
p.Leu355SerfsTer37(p.L355Sfs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000171111 |
| Start |
10499745:10499745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.289A>T |
| AA Mutation |
p.Lys97Ter(p.K97*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000171111 |
| Start |
10492135:10492136(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.763_766dupTACG |
| AA Mutation |
p.Asp256ValfsTer95(p.D256Vfs*95) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |