| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369887 |
| Start |
102837311:102837311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.51G>T |
| AA Mutation |
p.Trp17Cys(p.W17C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369887 |
| Start |
102837185:102837185(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.177delA |
| AA Mutation |
p.Lys59AsnfsTer16(p.K59Nfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369887 |
| Start |
102837184:102837185(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.177dupA |
| AA Mutation |
p.Tyr60IlefsTer29(p.Y60Ifs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |