| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340958 |
| Start |
73831271:73831271(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.70T>C |
| AA Mutation |
p.Cys24Arg(p.C24R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340958 |
| Start |
73831242:73831242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.41C>T |
| AA Mutation |
p.Ala14Val(p.A14V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000340958 |
| Start |
73831733:73831733(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.537delG |
| AA Mutation |
p.Leu180CysfsTer115(p.L180Cfs*115) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |