| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389614 |
| Start |
64939622:64939622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755670449
|
| CDS Mutation |
c.439C>T |
| AA Mutation |
p.Arg147Cys(p.R147C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389614 |
| Start |
64939738:64939738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.323A>C |
| AA Mutation |
p.Asn108Thr(p.N108T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389614 |
| Start |
64939783:64939783(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.278delG |
| AA Mutation |
p.Gly93ValfsTer?(p.G93Vfs*?) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |