| ID |
2 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58580292:58580293(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.483_484insAAATGATGTATGTATTCACACCTTGAGAGTTCAT |
| AA Mutation |
p.Asp162LysfsTer2(p.D162Kfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361673 |
| Start |
58580352:58580352(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.424G>T |
| AA Mutation |
p.Glu142Ter(p.E142*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58535321:58535322(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4865dupT |
| AA Mutation |
p.Leu1622PhefsTer10(p.L1622Ffs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58580291:58580292(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.484_485insCCTTCA |
| AA Mutation |
p.Asp162delinsAlaPheAsn(p.D162delinsAFN) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |