| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.868772C>T | CA117301 | WNK1 | c.2140-2493C>T (n.2140-2493C>T) c.3301C>T (p.Gln1101Ter) n.247C>T c.919-2493C>T (n.919-2493C>T) c.408+6502C>T (n.408+6502C>T) c.3046C>T (p.Gln1016Ter) c.36+6502C>T (n.36+6502C>T) c.190+6502C>T c.98-2493C>T c.943C>T (p.Gln315Ter) c.205C>T (p.Gln69Ter) c.1825C>T (p.Gln609Ter) c.2139+6502C>T (n.2139+6502C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.868772C= | CA2011712846 | WNK1 | c.2140-2493C= (n.2140-2493C=) c.3301C= (p.Gln1101=) n.247C= c.919-2493C= (n.919-2493C=) c.408+6502C= (n.408+6502C=) c.3046C= (p.Gln1016=) c.36+6502C= (n.36+6502C=) c.190+6502C= c.98-2493C= c.943C= (p.Gln315=) c.205C= (p.Gln69=) c.1825C= (p.Gln609=) c.2139+6502C= (n.2139+6502C=) | dbSNP |