| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252699 |
| Start |
38718000:38718000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1217G>A |
| AA Mutation |
p.Arg406His(p.R406H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252699 |
| Start |
38708154:38708154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.610C>T |
| AA Mutation |
p.Arg204Trp(p.R204W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252699 |
| Start |
38718043:38718043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1260G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |