| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250160 |
| Start |
133213047:133213047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.253G>T |
| AA Mutation |
p.Asp85Tyr(p.D85Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250160 |
| Start |
133220793:133220793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760043627
|
| CDS Mutation |
c.562G>A |
| AA Mutation |
p.Asp188Asn(p.D188N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000250160 |
| Start |
133220714:133220714(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.488delC |
| AA Mutation |
p.Pro163ArgfsTer11(p.P163Rfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |