| ID |
1 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000291670 |
| Start |
46146267:46146267(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.967delG |
| AA Mutation |
p.Glu323SerfsTer55(p.E323Sfs*55) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000291670 |
| Start |
46137290:46137291(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1487dupT |
| AA Mutation |
p.Asn497GlnfsTer15(p.N497Qfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000291670 |
| Start |
46155486:46155487(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.37_38insTTATGG |
| AA Mutation |
p.Ser12_Glu13insValMet(p.S12_E13insVM) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |