| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53235219:53235220(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2546_2547delAT |
| AA Mutation |
p.Asp849AlafsTer6(p.D849Afs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000398510 |
| Start |
53263046:53263046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4269G>A |
| AA Mutation |
p.Trp1423Ter(p.W1423*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53318243:53318244(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7618_7625dupAAAAGACA |
| AA Mutation |
p.His2542GlnfsTer12(p.H2542Qfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |