| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339381 |
| Start |
1331425:1331425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.80A>C |
| AA Mutation |
p.Gln27Pro(p.Q27P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339381 |
| Start |
1331494:1331494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.149G>A |
| AA Mutation |
p.Gly50Asp(p.G50D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339381 |
| Start |
1332655:1332655(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1124G>T |
| AA Mutation |
p.Cys375Phe(p.C375F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |