| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200045446:200045446(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.330delT |
| AA Mutation |
p.Phe110LeufsTer14(p.F110Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200039761:200039762(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.172dupG |
| AA Mutation |
p.Glu58GlyfsTer15(p.E58Gfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000367362 |
| Start |
200174210:200174210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1626A>C |
| AA Mutation |
p.Ter542TyrextTer43(p.*542Yext*43) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |