| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219216121:219216121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1030C>T |
| AA Mutation |
p.Arg344Trp(p.R344W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219211011:219211011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2066T>C |
| AA Mutation |
p.Val689Ala(p.V689A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219213064:219213064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778457867
|
| CDS Mutation |
c.1807C>T |
| AA Mutation |
p.Arg603Trp(p.R603W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |