| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361445 |
| Start |
11117008:11117008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7012G>A |
| AA Mutation |
p.Asp2338Asn(p.D2338N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361445 |
| Start |
11228901:11228901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2797G>A |
| AA Mutation |
p.Glu933Lys(p.E933K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000361445 |
| Start |
11144648:11144648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4872G>T |
| AA Mutation |
p.Gln1624His(p.Q1624H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |