| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262133 |
| Start |
53470768:53470768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2549G>A |
| AA Mutation |
p.Arg850His(p.R850H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262133 |
| Start |
53465549:53465549(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1810C>T |
| AA Mutation |
p.Pro604Ser(p.P604S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262133 |
| Start |
53470065:53470065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2125G>C |
| AA Mutation |
p.Val709Leu(p.V709L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |