| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300231 |
| Start |
43525290:43525290(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3817T>C |
| AA Mutation |
p.Tyr1273His(p.Y1273H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300231 |
| Start |
43526784:43526784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5311C>T |
| AA Mutation |
p.Arg1771Cys(p.R1771C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300231 |
| Start |
43529831:43529831(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8217C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |