| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000297814 |
| Start |
83853835:83853835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3151G>A |
| AA Mutation |
p.Glu1051Lys(p.E1051K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000297814 |
| Start |
83889196:83889196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748394033
|
| CDS Mutation |
c.1867C>T |
| AA Mutation |
p.Arg623Ter(p.R623*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297814 |
| Start |
83850239:83850240(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3415dupA |
| AA Mutation |
p.Met1139AsnfsTer8(p.M1139Nfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |