| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000337273 |
| Start |
72848476:72848476(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.108delC |
| AA Mutation |
p.Ile37SerfsTer22(p.I37Sfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000337273 |
| Start |
72848418:72848418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.49G>T |
| AA Mutation |
p.Glu17Ter(p.E17*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000337273 |
| Start |
72893704:72893705(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2143+2dupT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |