| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320031 |
| Start |
50070865:50070865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140829923
|
| CDS Mutation |
c.686G>A |
| AA Mutation |
p.Arg229His(p.R229H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320031 |
| Start |
50071502:50071502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.943G>A |
| AA Mutation |
p.Asp315Asn(p.D315N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000320031 |
| Start |
50072032:50072032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1006G>T |
| AA Mutation |
p.Glu336Ter(p.E336*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |