| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338702 |
| Start |
43731788:43731788(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780647851
|
| CDS Mutation |
c.890G>A |
| AA Mutation |
p.Arg297Gln(p.R297Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338702 |
| Start |
43728230:43728230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.561C>G |
| AA Mutation |
p.His187Gln(p.H187Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338702 |
| Start |
43711937:43711937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.372C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |