| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378209 |
| Start |
3865989:3865989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773522402
|
| CDS Mutation |
c.419C>T |
| AA Mutation |
p.Pro140Leu(p.P140L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378209 |
| Start |
3868030:3868030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747227784
|
| CDS Mutation |
c.487C>T |
| AA Mutation |
p.Arg163Trp(p.R163W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378209 |
| Start |
3858766:3858766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.163C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |