| ID |
5 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000225577 |
| Start |
59934436:59934436(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.785delC |
| AA Mutation |
p.Pro262LeufsTer4(p.P262Lfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000225577 |
| Start |
59893322:59893322(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.141+1delG |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000225577 |
| Start |
59914647:59914647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.325C>T |
| AA Mutation |
p.Arg109Ter(p.R109*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000225577 |
| Start |
59946728:59946729(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1524dupA |
| AA Mutation |
p.Gln509ThrfsTer24(p.Q509Tfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |