| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000239461 |
| Start |
170726245:170726245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.443A>G |
| AA Mutation |
p.Lys148Arg(p.K148R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000239461 |
| Start |
170719856:170719856(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.372delA |
| AA Mutation |
p.Glu125LysfsTer7(p.E125Kfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000239461 |
| Start |
170719767:170719767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.283C>T |
| AA Mutation |
p.Arg95Ter(p.R95*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |