| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000167106 |
| Start |
76776223:76776223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.862G>A |
| AA Mutation |
p.Asp288Asn(p.D288N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000167106 |
| Start |
76775923:76775923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.562C>T |
| AA Mutation |
p.Arg188Cys(p.R188C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000167106 |
| Start |
76762828:76762828(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12delG |
| AA Mutation |
p.Lys5ArgfsTer146(p.K5Rfs*146) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |