| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397938 |
| Start |
29298832:29298832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751624817
|
| CDS Mutation |
c.1517G>A |
| AA Mutation |
p.Arg506Gln(p.R506Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000397938 |
| Start |
29282392:29282392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765207539
|
| CDS Mutation |
c.416C>T |
| AA Mutation |
p.Pro139Leu(p.P139L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397938 |
| Start |
29278094:29278094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.291T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |