| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000399799 |
| Start |
20980004:20980004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2560A>G |
| AA Mutation |
p.Thr854Ala(p.T854A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399799 |
| Start |
21045403:21045403(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.479A>G |
| AA Mutation |
p.Asp160Gly(p.D160G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399799 |
| Start |
21049143:21049144(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.362dupT |
| AA Mutation |
p.Trp122LeufsTer25(p.W122Lfs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |