| ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000383202 |
| Start |
136521369:136521370(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.519dupA |
| AA Mutation |
p.Phe174IlefsTer7(p.F174Ifs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000383202 |
| Start |
136604323:136604324(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.282dupG |
| AA Mutation |
p.Lys95GlufsTer10(p.K95Efs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
21 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000383202 |
| Start |
136398830:136398830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2197-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |