WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.868597T>A | CA383341154 | WNK1 | c.2140-2668T>A (n.2140-2668T>A) c.3126T>A (p.His1042Gln) n.72T>A c.919-2668T>A (n.919-2668T>A) c.408+6327T>A (n.408+6327T>A) c.2871T>A (p.His957Gln) c.36+6327T>A (n.36+6327T>A) c.190+6327T>A c.98-2668T>A c.768T>A (p.His256Gln) c.30T>A (p.His10Gln) c.1650T>A (p.His550Gln) c.2139+6327T>A (n.2139+6327T>A) | |
| 12 | g.868597T>G | CA383341156 | WNK1 | c.2140-2668T>G (n.2140-2668T>G) c.3126T>G (p.His1042Gln) n.72T>G c.919-2668T>G (n.919-2668T>G) c.408+6327T>G (n.408+6327T>G) c.2871T>G (p.His957Gln) c.36+6327T>G (n.36+6327T>G) c.190+6327T>G c.98-2668T>G c.768T>G (p.His256Gln) c.30T>G (p.His10Gln) c.1650T>G (p.His550Gln) c.2139+6327T>G (n.2139+6327T>G) | |
| 12 | g.868598A>C | CA383341158 | WNK1 | c.2140-2667A>C (n.2140-2667A>C) c.3127A>C (p.Asn1043His) n.73A>C c.919-2667A>C (n.919-2667A>C) c.408+6328A>C (n.408+6328A>C) c.2872A>C (p.Asn958His) c.36+6328A>C (n.36+6328A>C) c.190+6328A>C c.98-2667A>C c.769A>C (p.Asn257His) c.31A>C (p.Asn11His) c.1651A>C (p.Asn551His) c.2139+6328A>C (n.2139+6328A>C) | |
| 12 | g.868598A>G | CA383341160 | WNK1 | c.2140-2667A>G (n.2140-2667A>G) c.3127A>G (p.Asn1043Asp) n.73A>G c.919-2667A>G (n.919-2667A>G) c.408+6328A>G (n.408+6328A>G) c.2872A>G (p.Asn958Asp) c.36+6328A>G (n.36+6328A>G) c.190+6328A>G c.98-2667A>G c.769A>G (p.Asn257Asp) c.31A>G (p.Asn11Asp) c.1651A>G (p.Asn551Asp) c.2139+6328A>G (n.2139+6328A>G) | |
| 12 | g.868598A>T | CA383341162 | WNK1 | c.2140-2667A>T (n.2140-2667A>T) c.3127A>T (p.Asn1043Tyr) n.73A>T c.919-2667A>T (n.919-2667A>T) c.408+6328A>T (n.408+6328A>T) c.2872A>T (p.Asn958Tyr) c.36+6328A>T (n.36+6328A>T) c.190+6328A>T c.98-2667A>T c.769A>T (p.Asn257Tyr) c.31A>T (p.Asn11Tyr) c.1651A>T (p.Asn551Tyr) c.2139+6328A>T (n.2139+6328A>T) | |
| 12 | g.868599A= | CA2011712765 | WNK1 | c.2140-2666A= (n.2140-2666A=) c.3128A= (p.Asn1043=) n.74A= c.919-2666A= (n.919-2666A=) c.408+6329A= (n.408+6329A=) c.2873A= (p.Asn958=) c.36+6329A= (n.36+6329A=) c.190+6329A= c.98-2666A= c.770A= (p.Asn257=) c.32A= (p.Asn11=) c.1652A= (p.Asn551=) c.2139+6329A= (n.2139+6329A=) | |
| 12 | g.868599A>C | CA383341166 | WNK1 | c.2140-2666A>C (n.2140-2666A>C) c.3128A>C (p.Asn1043Thr) n.74A>C c.919-2666A>C (n.919-2666A>C) c.408+6329A>C (n.408+6329A>C) c.2873A>C (p.Asn958Thr) c.36+6329A>C (n.36+6329A>C) c.190+6329A>C c.98-2666A>C c.770A>C (p.Asn257Thr) c.32A>C (p.Asn11Thr) c.1652A>C (p.Asn551Thr) c.2139+6329A>C (n.2139+6329A>C) | |
| 12 | g.868599A>G | CA231499426 | WNK1 | c.2140-2666A>G (n.2140-2666A>G) c.3128A>G (p.Asn1043Ser) n.74A>G c.919-2666A>G (n.919-2666A>G) c.408+6329A>G (n.408+6329A>G) c.2873A>G (p.Asn958Ser) c.36+6329A>G (n.36+6329A>G) c.190+6329A>G c.98-2666A>G c.770A>G (p.Asn257Ser) c.32A>G (p.Asn11Ser) c.1652A>G (p.Asn551Ser) c.2139+6329A>G (n.2139+6329A>G) | dbSNP gnomAD v4 |
| 12 | g.868599A>T | CA383341164 | WNK1 | c.2140-2666A>T (n.2140-2666A>T) c.3128A>T (p.Asn1043Ile) n.74A>T c.919-2666A>T (n.919-2666A>T) c.408+6329A>T (n.408+6329A>T) c.2873A>T (p.Asn958Ile) c.36+6329A>T (n.36+6329A>T) c.190+6329A>T c.98-2666A>T c.770A>T (p.Asn257Ile) c.32A>T (p.Asn11Ile) c.1652A>T (p.Asn551Ile) c.2139+6329A>T (n.2139+6329A>T) | |
| 12 | g.868600C>A | CA383341169 | WNK1 | c.2140-2665C>A (n.2140-2665C>A) c.3129C>A (p.Asn1043Lys) n.75C>A c.919-2665C>A (n.919-2665C>A) c.408+6330C>A (n.408+6330C>A) c.2874C>A (p.Asn958Lys) c.36+6330C>A (n.36+6330C>A) c.190+6330C>A c.98-2665C>A c.771C>A (p.Asn257Lys) c.33C>A (p.Asn11Lys) c.1653C>A (p.Asn551Lys) c.2139+6330C>A (n.2139+6330C>A) | |
| 12 | g.868600C= | CA2011712766 | WNK1 | c.2140-2665C= (n.2140-2665C=) c.3129C= (p.Asn1043=) n.75C= c.919-2665C= (n.919-2665C=) c.408+6330C= (n.408+6330C=) c.2874C= (p.Asn958=) c.36+6330C= (n.36+6330C=) c.190+6330C= c.98-2665C= c.771C= (p.Asn257=) c.33C= (p.Asn11=) c.1653C= (p.Asn551=) c.2139+6330C= (n.2139+6330C=) | |
| 12 | g.868600C>G | CA383341171 | WNK1 | c.2140-2665C>G (n.2140-2665C>G) c.3129C>G (p.Asn1043Lys) n.75C>G c.919-2665C>G (n.919-2665C>G) c.408+6330C>G (n.408+6330C>G) c.2874C>G (p.Asn958Lys) c.36+6330C>G (n.36+6330C>G) c.190+6330C>G c.98-2665C>G c.771C>G (p.Asn257Lys) c.33C>G (p.Asn11Lys) c.1653C>G (p.Asn551Lys) c.2139+6330C>G (n.2139+6330C>G) | |
| 12 | g.868600C>T | CA692929878 | WNK1 | c.2140-2665C>T (n.2140-2665C>T) c.3129C>T (p.Asn1043=) n.75C>T c.919-2665C>T (n.919-2665C>T) c.408+6330C>T (n.408+6330C>T) c.2874C>T (p.Asn958=) c.36+6330C>T (n.36+6330C>T) c.190+6330C>T c.98-2665C>T c.771C>T (p.Asn257=) c.33C>T (p.Asn11=) c.1653C>T (p.Asn551=) c.2139+6330C>T (n.2139+6330C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.868601A= | CA2011712767 | WNK1 | c.2140-2664A= (n.2140-2664A=) c.3130A= (p.Asn1044=) n.76A= c.919-2664A= (n.919-2664A=) c.408+6331A= (n.408+6331A=) c.2875A= (p.Asn959=) c.36+6331A= (n.36+6331A=) c.190+6331A= c.98-2664A= c.772A= (p.Asn258=) c.34A= (p.Asn12=) c.1654A= (p.Asn552=) c.2139+6331A= (n.2139+6331A=) | |
| 12 | g.868601A>C | CA383341173 | WNK1 | c.2140-2664A>C (n.2140-2664A>C) c.3130A>C (p.Asn1044His) n.76A>C c.919-2664A>C (n.919-2664A>C) c.408+6331A>C (n.408+6331A>C) c.2875A>C (p.Asn959His) c.36+6331A>C (n.36+6331A>C) c.190+6331A>C c.98-2664A>C c.772A>C (p.Asn258His) c.34A>C (p.Asn12His) c.1654A>C (p.Asn552His) c.2139+6331A>C (n.2139+6331A>C) | |
| 12 | g.868601A>G | CA383341175 | WNK1 | c.2140-2664A>G (n.2140-2664A>G) c.3130A>G (p.Asn1044Asp) n.76A>G c.919-2664A>G (n.919-2664A>G) c.408+6331A>G (n.408+6331A>G) c.2875A>G (p.Asn959Asp) c.36+6331A>G (n.36+6331A>G) c.190+6331A>G c.98-2664A>G c.772A>G (p.Asn258Asp) c.34A>G (p.Asn12Asp) c.1654A>G (p.Asn552Asp) c.2139+6331A>G (n.2139+6331A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.868601A>T | CA383341177 | WNK1 | c.2140-2664A>T (n.2140-2664A>T) c.3130A>T (p.Asn1044Tyr) n.76A>T c.919-2664A>T (n.919-2664A>T) c.408+6331A>T (n.408+6331A>T) c.2875A>T (p.Asn959Tyr) c.36+6331A>T (n.36+6331A>T) c.190+6331A>T c.98-2664A>T c.772A>T (p.Asn258Tyr) c.34A>T (p.Asn12Tyr) c.1654A>T (p.Asn552Tyr) c.2139+6331A>T (n.2139+6331A>T) | |
| 12 | g.868602A= | CA2011712768 | WNK1 | c.2140-2663A= (n.2140-2663A=) c.3131A= (p.Asn1044=) n.77A= c.919-2663A= (n.919-2663A=) c.408+6332A= (n.408+6332A=) c.2876A= (p.Asn959=) c.36+6332A= (n.36+6332A=) c.190+6332A= c.98-2663A= c.773A= (p.Asn258=) c.35A= (p.Asn12=) c.1655A= (p.Asn552=) c.2139+6332A= (n.2139+6332A=) | |
| 12 | g.868602A>C | CA383341178 | WNK1 | c.2140-2663A>C (n.2140-2663A>C) c.3131A>C (p.Asn1044Thr) n.77A>C c.919-2663A>C (n.919-2663A>C) c.408+6332A>C (n.408+6332A>C) c.2876A>C (p.Asn959Thr) c.36+6332A>C (n.36+6332A>C) c.190+6332A>C c.98-2663A>C c.773A>C (p.Asn258Thr) c.35A>C (p.Asn12Thr) c.1655A>C (p.Asn552Thr) c.2139+6332A>C (n.2139+6332A>C) | |
| 12 | g.868602A>G | CA383341180 | WNK1 | c.2140-2663A>G (n.2140-2663A>G) c.3131A>G (p.Asn1044Ser) n.77A>G c.919-2663A>G (n.919-2663A>G) c.408+6332A>G (n.408+6332A>G) c.2876A>G (p.Asn959Ser) c.36+6332A>G (n.36+6332A>G) c.190+6332A>G c.98-2663A>G c.773A>G (p.Asn258Ser) c.35A>G (p.Asn12Ser) c.1655A>G (p.Asn552Ser) c.2139+6332A>G (n.2139+6332A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.868602A>T | CA383341182 | WNK1 | c.2140-2663A>T (n.2140-2663A>T) c.3131A>T (p.Asn1044Ile) n.77A>T c.919-2663A>T (n.919-2663A>T) c.408+6332A>T (n.408+6332A>T) c.2876A>T (p.Asn959Ile) c.36+6332A>T (n.36+6332A>T) c.190+6332A>T c.98-2663A>T c.773A>T (p.Asn258Ile) c.35A>T (p.Asn12Ile) c.1655A>T (p.Asn552Ile) c.2139+6332A>T (n.2139+6332A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.868603T>A | CA383341184 | WNK1 | c.2140-2662T>A (n.2140-2662T>A) c.3132T>A (p.Asn1044Lys) n.78T>A c.919-2662T>A (n.919-2662T>A) c.408+6333T>A (n.408+6333T>A) c.2877T>A (p.Asn959Lys) c.36+6333T>A (n.36+6333T>A) c.190+6333T>A c.98-2662T>A c.774T>A (p.Asn258Lys) c.36T>A (p.Asn12Lys) c.1656T>A (p.Asn552Lys) c.2139+6333T>A (n.2139+6333T>A) | |
| 12 | g.868603T>C | CA231499431 | WNK1 | c.2140-2662T>C (n.2140-2662T>C) c.3132T>C (p.Asn1044=) n.78T>C c.919-2662T>C (n.919-2662T>C) c.408+6333T>C (n.408+6333T>C) c.2877T>C (p.Asn959=) c.36+6333T>C (n.36+6333T>C) c.190+6333T>C c.98-2662T>C c.774T>C (p.Asn258=) c.36T>C (p.Asn12=) c.1656T>C (p.Asn552=) c.2139+6333T>C (n.2139+6333T>C) | ClinVar dbSNP gnomAD v4 |
| 12 | g.868603T>G | CA383341186 | WNK1 | c.2140-2662T>G (n.2140-2662T>G) c.3132T>G (p.Asn1044Lys) n.78T>G c.919-2662T>G (n.919-2662T>G) c.408+6333T>G (n.408+6333T>G) c.2877T>G (p.Asn959Lys) c.36+6333T>G (n.36+6333T>G) c.190+6333T>G c.98-2662T>G c.774T>G (p.Asn258Lys) c.36T>G (p.Asn12Lys) c.1656T>G (p.Asn552Lys) c.2139+6333T>G (n.2139+6333T>G) | |
| 12 | g.868603T= | CA2011712769 | WNK1 | c.2140-2662T= (n.2140-2662T=) c.3132T= (p.Asn1044=) n.78T= c.919-2662T= (n.919-2662T=) c.408+6333T= (n.408+6333T=) c.2877T= (p.Asn959=) c.36+6333T= (n.36+6333T=) c.190+6333T= c.98-2662T= c.774T= (p.Asn258=) c.36T= (p.Asn12=) c.1656T= (p.Asn552=) c.2139+6333T= (n.2139+6333T=) | |
| 12 | g.868604G>A | CA383341189 | WNK1 | c.2140-2661G>A (n.2140-2661G>A) c.3133G>A (p.Glu1045Lys) n.79G>A c.919-2661G>A (n.919-2661G>A) c.408+6334G>A (n.408+6334G>A) c.2878G>A (p.Glu960Lys) c.36+6334G>A (n.36+6334G>A) c.190+6334G>A c.98-2661G>A c.775G>A (p.Glu259Lys) c.37G>A (p.Glu13Lys) c.1657G>A (p.Glu553Lys) c.2139+6334G>A (n.2139+6334G>A) | |
| 12 | g.868604G>C | CA383341191 | WNK1 | c.2140-2661G>C (n.2140-2661G>C) c.3133G>C (p.Glu1045Gln) n.79G>C c.919-2661G>C (n.919-2661G>C) c.408+6334G>C (n.408+6334G>C) c.2878G>C (p.Glu960Gln) c.36+6334G>C (n.36+6334G>C) c.190+6334G>C c.98-2661G>C c.775G>C (p.Glu259Gln) c.37G>C (p.Glu13Gln) c.1657G>C (p.Glu553Gln) c.2139+6334G>C (n.2139+6334G>C) | |
| 12 | g.868604G= | CA2011712770 | WNK1 | c.2140-2661G= (n.2140-2661G=) c.3133G= (p.Glu1045=) n.79G= c.919-2661G= (n.919-2661G=) c.408+6334G= (n.408+6334G=) c.2878G= (p.Glu960=) c.36+6334G= (n.36+6334G=) c.190+6334G= c.98-2661G= c.775G= (p.Glu259=) c.37G= (p.Glu13=) c.1657G= (p.Glu553=) c.2139+6334G= (n.2139+6334G=) | |
| 12 | g.868604G>T | CA383341193 | WNK1 | c.2140-2661G>T (n.2140-2661G>T) c.3133G>T (p.Glu1045Ter) n.79G>T c.919-2661G>T (n.919-2661G>T) c.408+6334G>T (n.408+6334G>T) c.2878G>T (p.Glu960Ter) c.36+6334G>T (n.36+6334G>T) c.190+6334G>T c.98-2661G>T c.775G>T (p.Glu259Ter) c.37G>T (p.Glu13Ter) c.1657G>T (p.Glu553Ter) c.2139+6334G>T (n.2139+6334G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.868605A>C | CA383341197 | WNK1 | c.2140-2660A>C (n.2140-2660A>C) c.3134A>C (p.Glu1045Ala) n.80A>C c.919-2660A>C (n.919-2660A>C) c.408+6335A>C (n.408+6335A>C) c.2879A>C (p.Glu960Ala) c.36+6335A>C (n.36+6335A>C) c.190+6335A>C c.98-2660A>C c.776A>C (p.Glu259Ala) c.38A>C (p.Glu13Ala) c.1658A>C (p.Glu553Ala) c.2139+6335A>C (n.2139+6335A>C) | |
| 12 | g.868605A>G | CA383341194 | WNK1 | c.2140-2660A>G (n.2140-2660A>G) c.3134A>G (p.Glu1045Gly) n.80A>G c.919-2660A>G (n.919-2660A>G) c.408+6335A>G (n.408+6335A>G) c.2879A>G (p.Glu960Gly) c.36+6335A>G (n.36+6335A>G) c.190+6335A>G c.98-2660A>G c.776A>G (p.Glu259Gly) c.38A>G (p.Glu13Gly) c.1658A>G (p.Glu553Gly) c.2139+6335A>G (n.2139+6335A>G) | |
| 12 | g.868605A>T | CA383341196 | WNK1 | c.2140-2660A>T (n.2140-2660A>T) c.3134A>T (p.Glu1045Val) n.80A>T c.919-2660A>T (n.919-2660A>T) c.408+6335A>T (n.408+6335A>T) c.2879A>T (p.Glu960Val) c.36+6335A>T (n.36+6335A>T) c.190+6335A>T c.98-2660A>T c.776A>T (p.Glu259Val) c.38A>T (p.Glu13Val) c.1658A>T (p.Glu553Val) c.2139+6335A>T (n.2139+6335A>T) | |
| 12 | g.868606G>C | CA383341198 | WNK1 | c.2140-2659G>C (n.2140-2659G>C) c.3135G>C (p.Glu1045Asp) n.81G>C c.919-2659G>C (n.919-2659G>C) c.408+6336G>C (n.408+6336G>C) c.2880G>C (p.Glu960Asp) c.36+6336G>C (n.36+6336G>C) c.190+6336G>C c.98-2659G>C c.777G>C (p.Glu259Asp) c.39G>C (p.Glu13Asp) c.1659G>C (p.Glu553Asp) c.2139+6336G>C (n.2139+6336G>C) | |
| 12 | g.868606G>T | CA383341200 | WNK1 | c.2140-2659G>T (n.2140-2659G>T) c.3135G>T (p.Glu1045Asp) n.81G>T c.919-2659G>T (n.919-2659G>T) c.408+6336G>T (n.408+6336G>T) c.2880G>T (p.Glu960Asp) c.36+6336G>T (n.36+6336G>T) c.190+6336G>T c.98-2659G>T c.777G>T (p.Glu259Asp) c.39G>T (p.Glu13Asp) c.1659G>T (p.Glu553Asp) c.2139+6336G>T (n.2139+6336G>T) | |
| 12 | g.868607A>C | CA383341202 | WNK1 | c.2140-2658A>C (n.2140-2658A>C) c.3136A>C (p.Ser1046Arg) n.82A>C c.919-2658A>C (n.919-2658A>C) c.408+6337A>C (n.408+6337A>C) c.2881A>C (p.Ser961Arg) c.36+6337A>C (n.36+6337A>C) c.190+6337A>C c.98-2658A>C c.778A>C (p.Ser260Arg) c.40A>C (p.Ser14Arg) c.1660A>C (p.Ser554Arg) c.2139+6337A>C (n.2139+6337A>C) | |
| 12 | g.868607A>G | CA383341204 | WNK1 | c.2140-2658A>G (n.2140-2658A>G) c.3136A>G (p.Ser1046Gly) n.82A>G c.919-2658A>G (n.919-2658A>G) c.408+6337A>G (n.408+6337A>G) c.2881A>G (p.Ser961Gly) c.36+6337A>G (n.36+6337A>G) c.190+6337A>G c.98-2658A>G c.778A>G (p.Ser260Gly) c.40A>G (p.Ser14Gly) c.1660A>G (p.Ser554Gly) c.2139+6337A>G (n.2139+6337A>G) | |
| 12 | g.868607A>T | CA383341206 | WNK1 | c.2140-2658A>T (n.2140-2658A>T) c.3136A>T (p.Ser1046Cys) n.82A>T c.919-2658A>T (n.919-2658A>T) c.408+6337A>T (n.408+6337A>T) c.2881A>T (p.Ser961Cys) c.36+6337A>T (n.36+6337A>T) c.190+6337A>T c.98-2658A>T c.778A>T (p.Ser260Cys) c.40A>T (p.Ser14Cys) c.1660A>T (p.Ser554Cys) c.2139+6337A>T (n.2139+6337A>T) | |
| 12 | g.868608G>A | CA383341208 | WNK1 | c.2140-2657G>A (n.2140-2657G>A) c.3137G>A (p.Ser1046Asn) n.83G>A c.919-2657G>A (n.919-2657G>A) c.408+6338G>A (n.408+6338G>A) c.2882G>A (p.Ser961Asn) c.36+6338G>A (n.36+6338G>A) c.190+6338G>A c.98-2657G>A c.779G>A (p.Ser260Asn) c.41G>A (p.Ser14Asn) c.1661G>A (p.Ser554Asn) c.2139+6338G>A (n.2139+6338G>A) | |
| 12 | g.868608G>C | CA383341209 | WNK1 | c.2140-2657G>C (n.2140-2657G>C) c.3137G>C (p.Ser1046Thr) n.83G>C c.919-2657G>C (n.919-2657G>C) c.408+6338G>C (n.408+6338G>C) c.2882G>C (p.Ser961Thr) c.36+6338G>C (n.36+6338G>C) c.190+6338G>C c.98-2657G>C c.779G>C (p.Ser260Thr) c.41G>C (p.Ser14Thr) c.1661G>C (p.Ser554Thr) c.2139+6338G>C (n.2139+6338G>C) | |
| 12 | g.868608G>T | CA383341210 | WNK1 | c.2140-2657G>T (n.2140-2657G>T) c.3137G>T (p.Ser1046Ile) n.83G>T c.919-2657G>T (n.919-2657G>T) c.408+6338G>T (n.408+6338G>T) c.2882G>T (p.Ser961Ile) c.36+6338G>T (n.36+6338G>T) c.190+6338G>T c.98-2657G>T c.779G>T (p.Ser260Ile) c.41G>T (p.Ser14Ile) c.1661G>T (p.Ser554Ile) c.2139+6338G>T (n.2139+6338G>T) | |
| 12 | g.868609C>A | CA383341212 | WNK1 | c.2140-2656C>A (n.2140-2656C>A) c.3138C>A (p.Ser1046Arg) n.84C>A c.919-2656C>A (n.919-2656C>A) c.408+6339C>A (n.408+6339C>A) c.2883C>A (p.Ser961Arg) c.36+6339C>A (n.36+6339C>A) c.190+6339C>A c.98-2656C>A c.780C>A (p.Ser260Arg) c.42C>A (p.Ser14Arg) c.1662C>A (p.Ser554Arg) c.2139+6339C>A (n.2139+6339C>A) | |
| 12 | g.868609C>G | CA383341215 | WNK1 | c.2140-2656C>G (n.2140-2656C>G) c.3138C>G (p.Ser1046Arg) n.84C>G c.919-2656C>G (n.919-2656C>G) c.408+6339C>G (n.408+6339C>G) c.2883C>G (p.Ser961Arg) c.36+6339C>G (n.36+6339C>G) c.190+6339C>G c.98-2656C>G c.780C>G (p.Ser260Arg) c.42C>G (p.Ser14Arg) c.1662C>G (p.Ser554Arg) c.2139+6339C>G (n.2139+6339C>G) | |
| 12 | g.868609C>T | CA2617007201 | WNK1 | c.2140-2656C>T (n.2140-2656C>T) c.3138C>T (p.Ser1046=) n.84C>T c.919-2656C>T (n.919-2656C>T) c.408+6339C>T (n.408+6339C>T) c.2883C>T (p.Ser961=) c.36+6339C>T (n.36+6339C>T) c.190+6339C>T c.98-2656C>T c.780C>T (p.Ser260=) c.42C>T (p.Ser14=) c.1662C>T (p.Ser554=) c.2139+6339C>T (n.2139+6339C>T) | gnomAD v4 |
| 12 | g.868610A>G | CA383341216 | WNK1 | c.2140-2655A>G (n.2140-2655A>G) c.3139A>G (p.Arg1047Gly) n.85A>G c.919-2655A>G (n.919-2655A>G) c.408+6340A>G (n.408+6340A>G) c.2884A>G (p.Arg962Gly) c.36+6340A>G (n.36+6340A>G) c.190+6340A>G c.98-2655A>G c.781A>G (p.Arg261Gly) c.43A>G (p.Arg15Gly) c.1663A>G (p.Arg555Gly) c.2139+6340A>G (n.2139+6340A>G) | |
| 12 | g.868610A>T | CA383341218 | WNK1 | c.2140-2655A>T (n.2140-2655A>T) c.3139A>T (p.Arg1047Ter) n.85A>T c.919-2655A>T (n.919-2655A>T) c.408+6340A>T (n.408+6340A>T) c.2884A>T (p.Arg962Ter) c.36+6340A>T (n.36+6340A>T) c.190+6340A>T c.98-2655A>T c.781A>T (p.Arg261Ter) c.43A>T (p.Arg15Ter) c.1663A>T (p.Arg555Ter) c.2139+6340A>T (n.2139+6340A>T) | |
| 12 | g.868611G>A | CA383341222 | WNK1 | c.2140-2654G>A (n.2140-2654G>A) c.3140G>A (p.Arg1047Lys) n.86G>A c.919-2654G>A (n.919-2654G>A) c.408+6341G>A (n.408+6341G>A) c.2885G>A (p.Arg962Lys) c.36+6341G>A (n.36+6341G>A) c.190+6341G>A c.98-2654G>A c.782G>A (p.Arg261Lys) c.44G>A (p.Arg15Lys) c.1664G>A (p.Arg555Lys) c.2139+6341G>A (n.2139+6341G>A) | COSMIC COSMIC COSMIC |
| 12 | g.868611G>C | CA383341224 | WNK1 | c.2140-2654G>C (n.2140-2654G>C) c.3140G>C (p.Arg1047Thr) n.86G>C c.919-2654G>C (n.919-2654G>C) c.408+6341G>C (n.408+6341G>C) c.2885G>C (p.Arg962Thr) c.36+6341G>C (n.36+6341G>C) c.190+6341G>C c.98-2654G>C c.782G>C (p.Arg261Thr) c.44G>C (p.Arg15Thr) c.1664G>C (p.Arg555Thr) c.2139+6341G>C (n.2139+6341G>C) | |
| 12 | g.868611G>T | CA383341221 | WNK1 | c.2140-2654G>T (n.2140-2654G>T) c.3140G>T (p.Arg1047Ile) n.86G>T c.919-2654G>T (n.919-2654G>T) c.408+6341G>T (n.408+6341G>T) c.2885G>T (p.Arg962Ile) c.36+6341G>T (n.36+6341G>T) c.190+6341G>T c.98-2654G>T c.782G>T (p.Arg261Ile) c.44G>T (p.Arg15Ile) c.1664G>T (p.Arg555Ile) c.2139+6341G>T (n.2139+6341G>T) | |
| 12 | g.868612A>C | CA383341228 | WNK1 | c.2140-2653A>C (n.2140-2653A>C) c.3141A>C (p.Arg1047Ser) n.87A>C c.919-2653A>C (n.919-2653A>C) c.408+6342A>C (n.408+6342A>C) c.2886A>C (p.Arg962Ser) c.36+6342A>C (n.36+6342A>C) c.190+6342A>C c.98-2653A>C c.783A>C (p.Arg261Ser) c.45A>C (p.Arg15Ser) c.1665A>C (p.Arg555Ser) c.2139+6342A>C (n.2139+6342A>C) | |
| 12 | g.868612A>T | CA383341226 | WNK1 | c.2140-2653A>T (n.2140-2653A>T) c.3141A>T (p.Arg1047Ser) n.87A>T c.919-2653A>T (n.919-2653A>T) c.408+6342A>T (n.408+6342A>T) c.2886A>T (p.Arg962Ser) c.36+6342A>T (n.36+6342A>T) c.190+6342A>T c.98-2653A>T c.783A>T (p.Arg261Ser) c.45A>T (p.Arg15Ser) c.1665A>T (p.Arg555Ser) c.2139+6342A>T (n.2139+6342A>T) |