| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000410080 |
| Start |
152663109:152663109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2152C>T |
| AA Mutation |
p.Arg718Ter(p.R718*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000410080 |
| Start |
152659146:152659147(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2452dupA |
| AA Mutation |
p.Arg818LysfsTer15(p.R818Kfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000410080 |
| Start |
152670334:152670335(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1526dupA |
| AA Mutation |
p.Asn509LysfsTer4(p.N509Kfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |