| ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4674330:4674330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2585A>T |
| AA Mutation |
p.Lys862Met(p.K862M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4685150:4685150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3646C>T |
| AA Mutation |
p.Arg1216Trp(p.R1216W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4652141:4652145(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.874_878delTGTCG |
| AA Mutation |
p.Cys292GlyfsTer28(p.C292Gfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |