| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45685993:45685993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2105A>T |
| AA Mutation |
p.Lys702Met(p.K702M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45713894:45713894(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3264delC |
| AA Mutation |
p.Val1089CysfsTer50(p.V1089Cfs*50) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297323 |
| Start |
45575064:45575065(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.522dupT |
| AA Mutation |
p.Ala175CysfsTer62(p.A175Cfs*62) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |