| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000338784 |
| Start |
7560122:7560153(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.461_492delGTGTCCGAATCCAGGATGCTGGAGTTTATCTG |
| AA Mutation |
p.Gly154AlafsTer3(p.G154Afs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000338784 |
| Start |
7559143:7559143(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.109delG |
| AA Mutation |
p.Ala37GlnfsTer13(p.A37Qfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000338784 |
| Start |
7559142:7559143(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs775253472
|
| CDS Mutation |
c.109dupG |
| AA Mutation |
p.Ala37GlyfsTer88(p.A37Gfs*88) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |