| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389054 |
| Start |
141524148:141524148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750059700
|
| CDS Mutation |
c.3656G>A |
| AA Mutation |
p.Arg1219His(p.R1219H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389054 |
| Start |
141534426:141534426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2490G>T |
| AA Mutation |
p.Lys830Asn(p.K830N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389054 |
| Start |
141583261:141583261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.565G>A |
| AA Mutation |
p.Ala189Thr(p.A189T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |