| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374448 |
| Start |
110747654:110747654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.767C>G |
| AA Mutation |
p.Ser256Cys(p.S256C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374448 |
| Start |
110787808:110787808(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1899delT |
| AA Mutation |
p.Phe633LeufsTer7(p.F633Lfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374448 |
| Start |
110800959:110800959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2581G>T |
| AA Mutation |
p.Glu861Ter(p.E861*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |