| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000244020 |
| Start |
43460183:43460183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.532C>A |
| AA Mutation |
p.Leu178Ile(p.L178I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244020 |
| Start |
43458133:43458133(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.104delA |
| AA Mutation |
p.Asn35MetfsTer21(p.N35Mfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000244020 |
| Start |
43460514:43460514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.591-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |