| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316881 |
| Start |
56892063:56892063(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1530delG |
| AA Mutation |
p.Ile511SerfsTer16(p.I511Sfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316881 |
| Start |
56904416:56904416(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.766G>T |
| AA Mutation |
p.Glu256Ter(p.E256*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316881 |
| Start |
56891745:56891745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1848G>A |
| AA Mutation |
p.Trp616Ter(p.W616*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |