| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000323468 |
| Start |
108479448:108479448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1146T>A |
| AA Mutation |
p.Tyr382Ter(p.Y382*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000323468 |
| Start |
108481178:108481178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1098+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000323468 |
| Start |
108482215:108482217(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.690_692delTCT |
| AA Mutation |
p.Leu231del(p.L231del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |