| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264645 |
| Start |
40164133:40164133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1438C>T |
| AA Mutation |
p.Gln480Ter(p.Q480*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264645 |
| Start |
40167513:40167513(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1552C>T |
| AA Mutation |
p.Arg518Ter(p.R518*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000264645 |
| Start |
40167551:40167556(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1593_1598delAGAGCC |
| AA Mutation |
p.Glu532_Pro533del(p.E532_P533del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |