| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392669 |
| Start |
126413994:126413994(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.949G>A |
| AA Mutation |
p.Ala317Thr(p.A317T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392669 |
| Start |
126408365:126408365(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.496C>T |
| AA Mutation |
p.Arg166Cys(p.R166C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392669 |
| Start |
126407617:126407617(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.327delC |
| AA Mutation |
p.Lys110ArgfsTer38(p.K110Rfs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |