| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375544 |
| Start |
92457336:92457336(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1095T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375544 |
| Start |
92474697:92474697(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs778526424
|
| CDS Mutation |
c.201delT |
| AA Mutation |
p.Pro68HisfsTer24(p.P68Hfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375544 |
| Start |
92466502:92466502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143358512
|
| CDS Mutation |
c.457C>T |
| AA Mutation |
p.Arg153Ter(p.R153*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |