| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317370 |
| Start |
7285838:7285838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1256C>T |
| AA Mutation |
p.Ala419Val(p.A419V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317370 |
| Start |
7283254:7283254(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.47delC |
| AA Mutation |
p.Pro16LeufsTer5(p.P16Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000317370 |
| Start |
7283244:7283244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.34-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |