| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367058 |
| Start |
207466565:207466565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368072577
|
| CDS Mutation |
c.98G>A |
| AA Mutation |
p.Arg33Gln(p.R33Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367058 |
| Start |
207474861:207474861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2184G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367058 |
| Start |
207468670:207468673(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.592_595delTTGT |
| AA Mutation |
p.Ser199ArgfsTer19(p.S199Rfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |