| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328668 |
| Start |
150297917:150297917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143451969
|
| CDS Mutation |
c.1007G>A |
| AA Mutation |
p.Arg336Gln(p.R336Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328668 |
| Start |
150298310:150298310(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.614G>A |
| AA Mutation |
p.Gly205Asp(p.G205D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328668 |
| Start |
150297371:150297371(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1553delG |
| AA Mutation |
p.Gly518ValfsTer47(p.G518Vfs*47) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |