| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274532 |
| Start |
156948481:156948481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.779T>A |
| AA Mutation |
p.Leu260His(p.L260H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274532 |
| Start |
156954464:156954464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.351T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274532 |
| Start |
156926289:156926289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.868C>T |
| AA Mutation |
p.Gln290Ter(p.Q290*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |