| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272233 |
| Start |
20447706:20447706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.241C>T |
| AA Mutation |
p.Leu81Phe(p.L81F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272233 |
| Start |
20447469:20447469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4G>T |
| AA Mutation |
p.Ala2Ser(p.A2S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272233 |
| Start |
20447788:20447788(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.323C>T |
| AA Mutation |
p.Pro108Leu(p.P108L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |