| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219066 |
| Start |
2046146:2046146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.360C>G |
| AA Mutation |
p.Asp120Glu(p.D120E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000219066 |
| Start |
2046132:2046132(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.374delC |
| AA Mutation |
p.Pro125GlnfsTer12(p.P125Qfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000219066 |
| Start |
2046246:2046246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.260G>A |
| AA Mutation |
p.Trp87Ter(p.W87*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |