| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258774 |
| Start |
47978808:47978808(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.61A>G |
| AA Mutation |
p.Asn21Asp(p.N21D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258774 |
| Start |
47975635:47975636(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.517dupA |
| AA Mutation |
p.Met173AsnfsTer11(p.M173Nfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000258774 |
| Start |
47978528:47978529(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.245_246insAAAGGCTAG |
| AA Mutation |
p.Glu82_Leu83insLysAlaArg(p.E82_L83insKAR) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |