| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343348 |
| Start |
116447049:116447049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753365134
|
| CDS Mutation |
c.2657C>A |
| AA Mutation |
p.Ala886Asp(p.A886D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343348 |
| Start |
116502320:116502320(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.108delA |
| AA Mutation |
p.Lys36AsnfsTer25(p.K36Nfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000343348 |
| Start |
116475604:116475604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1650-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |