| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000261769 |
| Start |
68815683:68815683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1489G>T |
| AA Mutation |
p.Glu497Ter(p.E497*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261769 |
| Start |
68833346:68833347(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2499dupT |
| AA Mutation |
p.Asp834Ter(p.D834*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000261769 |
| Start |
68822226:68822226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1936+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |