| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000281821 |
| Start |
221430049:221430049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745528063
|
| CDS Mutation |
c.2599G>A |
| AA Mutation |
p.Asp867Asn(p.D867N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000281821 |
| Start |
221482366:221482366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1304C>T |
| AA Mutation |
p.Thr435Ile(p.T435I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000281821 |
| Start |
221568749:221568749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.128T>A |
| AA Mutation |
p.Leu43His(p.L43H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |