| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322244 |
| Start |
67663163:67663163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1013A>C |
| AA Mutation |
p.Lys338Thr(p.K338T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000322244 |
| Start |
67646001:67646004(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1329_1332delTGAT |
| AA Mutation |
p.Tyr443Ter(p.Y443*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000322244 |
| Start |
67631772:67631772(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2195-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |