| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377604 |
| Start |
47179890:47179890(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.912delG |
| AA Mutation |
p.Leu304PhefsTer4(p.L304Ffs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377604 |
| Start |
47179127:47179127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.688C>T |
| AA Mutation |
p.Arg230Ter(p.R230*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000377604 |
| Start |
47185715:47185715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2356-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |