| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000418519 |
| Start |
39909017:39909017(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.602delC |
| AA Mutation |
p.Pro201GlnfsTer5(p.P201Qfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000418519 |
| Start |
39912426:39912426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770387053
|
| CDS Mutation |
c.307G>T |
| AA Mutation |
p.Glu103Ter(p.E103*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000418519 |
| Start |
39909925:39909925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.408-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |