| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116384840:116384840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.181C>T |
| AA Mutation |
p.Arg61Trp(p.R61W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116384071:116384071(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.74delA |
| AA Mutation |
p.Lys25ArgfsTer11(p.K25Rfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116388226:116388227(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.488dupA |
| AA Mutation |
p.Asn163LysfsTer14(p.N163Kfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |