| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374189 |
| Start |
48427098:48427098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1015G>A |
| AA Mutation |
p.Asp339Asn(p.D339N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374189 |
| Start |
48404975:48404976(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.251dupA |
| AA Mutation |
p.Asn84LysfsTer43(p.N84Kfs*43) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000374189 |
| Start |
48427145:48427145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1060+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |