| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358399 |
| Start |
72241165:72241165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1002C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358399 |
| Start |
72195506:72195506(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.134delT |
| AA Mutation |
p.Leu45Ter(p.L45*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358399 |
| Start |
72228000:72228000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.880C>T |
| AA Mutation |
p.Arg294Ter(p.R294*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |