| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343823 |
| Start |
38107149:38107149(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.384A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343823 |
| Start |
38133499:38133500(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1574_1575delTT |
| AA Mutation |
p.Phe525CysfsTer3(p.F525Cfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000343823 |
| Start |
38107087:38107087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.322C>T |
| AA Mutation |
p.Arg108Ter(p.R108*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |