| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284268 |
| Start |
14758485:14758485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772363889
|
| CDS Mutation |
c.427G>A |
| AA Mutation |
p.Ala143Thr(p.A143T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284268 |
| Start |
14769031:14769031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.257C>T |
| AA Mutation |
p.Ala86Val(p.A86V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284268 |
| Start |
14769048:14769048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.240G>C |
| AA Mutation |
p.Lys80Asn(p.K80N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |