| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372816 |
| Start |
39897875:39897875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.592C>T |
| AA Mutation |
p.Pro198Ser(p.P198S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372816 |
| Start |
39901315:39901315(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.120delC |
| AA Mutation |
p.Thr41ArgfsTer69(p.T41Rfs*69) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372816 |
| Start |
39897893:39897893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.574C>T |
| AA Mutation |
p.Arg192Ter(p.R192*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |