| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350030 |
| Start |
45617509:45617509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2204C>T |
| AA Mutation |
p.Ala735Val(p.A735V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350030 |
| Start |
45591230:45591230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.67G>C |
| AA Mutation |
p.Asp23His(p.D23H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000350030 |
| Start |
45607383:45607383(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.478delA |
| AA Mutation |
p.Thr160GlnfsTer29(p.T160Qfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |