| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370187 |
| Start |
101521652:101521652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.338A>T |
| AA Mutation |
p.Asn113Ile(p.N113I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370187 |
| Start |
101532391:101532391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.937G>A |
| AA Mutation |
p.Asp313Asn(p.D313N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370187 |
| Start |
101550815:101550816(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs774921343
|
| CDS Mutation |
c.1780dupC |
| AA Mutation |
p.Arg594ProfsTer27(p.R594Pfs*27) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |