| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101573760:101573760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.827A>G |
| AA Mutation |
p.Tyr276Cys(p.Y276C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101636920:101636921(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1510_1511insTCTC |
| AA Mutation |
p.Arg504LeufsTer10(p.R504Lfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101599056:101599056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1004-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |