| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369144 |
| Start |
119070998:119070998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.629G>A |
| AA Mutation |
p.Arg210His(p.R210H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369144 |
| Start |
119058195:119058195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1738G>A |
| AA Mutation |
p.Glu580Lys(p.E580K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369144 |
| Start |
119036262:119036262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3926C>A |
| AA Mutation |
p.Ser1309Tyr(p.S1309Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |