| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38945516:38945516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4608A>T |
| AA Mutation |
p.Gln1536His(p.Q1536H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38958480:38958480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2383T>A |
| AA Mutation |
p.Ser795Thr(p.S795T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38950374:38950374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3474A>T |
| AA Mutation |
p.Gln1158His(p.Q1158H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |