| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245838 |
| Start |
123638951:123638951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1823A>C |
| AA Mutation |
p.Asn608Thr(p.N608T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245838 |
| Start |
123627744:123627744(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2706A>C |
| AA Mutation |
p.Glu902Asp(p.E902D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000245838 |
| Start |
123621523:123621523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3850A>T |
| AA Mutation |
p.Lys1284Ter(p.K1284*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |