| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377966 |
| Start |
36102202:36102202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1407G>T |
| AA Mutation |
p.Lys469Asn(p.K469N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377966 |
| Start |
36118898:36118898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771880391
|
| CDS Mutation |
c.2395G>A |
| AA Mutation |
p.Val799Ile(p.V799I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377966 |
| Start |
36058872:36058872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.205C>T |
| AA Mutation |
p.Arg69Ter(p.R69*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |