| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344836 |
| Start |
8903349:8903349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1758A>T |
| AA Mutation |
p.Glu586Asp(p.E586D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344836 |
| Start |
8906535:8906536(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1318dupA |
| AA Mutation |
p.Thr440AsnfsTer4(p.T440Nfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344836 |
| Start |
8895669:8895670(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2891dupC |
| AA Mutation |
p.Ala965CysfsTer23(p.A965Cfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |