| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343410 |
| Start |
222540273:222540273(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755485945
|
| CDS Mutation |
c.1187G>A |
| AA Mutation |
p.Arg396Gln(p.R396Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343410 |
| Start |
222547956:222547956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.89T>C |
| AA Mutation |
p.Ile30Thr(p.I30T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343410 |
| Start |
222543629:222543629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs182148496
|
| CDS Mutation |
c.882G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |