| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000232003 |
| Start |
186677797:186677797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1492C>A |
| AA Mutation |
p.Gln498Lys(p.Q498K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000232003 |
| Start |
186675163:186675164(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.716_725dupTAAACTGTGA |
| AA Mutation |
p.Glu242AspfsTer4(p.E242Dfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000232003 |
| Start |
186668986:186668987(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.236dupC |
| AA Mutation |
p.Val80GlyfsTer9(p.V80Gfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |