| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360596 |
| Start |
34921102:34921102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780837244
|
| CDS Mutation |
c.1240C>T |
| AA Mutation |
p.Arg414Cys(p.R414C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000360596 |
| Start |
34921008:34921008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1146T>G |
| AA Mutation |
p.Phe382Leu(p.F382L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360596 |
| Start |
34914107:34914108(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.661dupG |
| AA Mutation |
p.Glu221GlyfsTer11(p.E221Gfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |