Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42787345C>A | CA399656449 | WNK4 | c.1544C>A (p.Ala515Asp) n.224C>A c.*45C>A (n.*45C>A) c.536C>A (p.Ala179Asp) | |
17 | g.42787345C>G | CA399656451 | WNK4 | c.1544C>G (p.Ala515Gly) n.224C>G c.*45C>G (n.*45C>G) c.536C>G (p.Ala179Gly) | |
17 | g.42787345C>T | CA399656445 | WNK4 | c.1544C>T (p.Ala515Val) n.224C>T c.*45C>T (n.*45C>T) c.536C>T (p.Ala179Val) | |
17 | g.42787346T>A | CA500225393 | WNK4 | c.1545T>A (p.Ala515=) n.225T>A c.*46T>A (n.*46T>A) c.537T>A (p.Ala179=) | |
17 | g.42787346T>C | CA500225394 | WNK4 | c.1545T>C (p.Ala515=) n.225T>C c.*46T>C (n.*46T>C) c.537T>C (p.Ala179=) | |
17 | g.42787346T>G | CA500225395 | WNK4 | c.1545T>G (p.Ala515=) n.225T>G c.*46T>G (n.*46T>G) c.537T>G (p.Ala179=) | |
17 | g.42787347G>A | CA399656452 | WNK4 | c.1546G>A (p.Ala516Thr) n.226G>A c.*47G>A (n.*47G>A) c.538G>A (p.Ala180Thr) | |
17 | g.42787347G>C | CA399656454 | WNK4 | c.1546G>C (p.Ala516Pro) n.226G>C c.*47G>C (n.*47G>C) c.538G>C (p.Ala180Pro) | |
17 | g.42787347G>T | CA399656456 | WNK4 | c.1546G>T (p.Ala516Ser) n.226G>T c.*47G>T (n.*47G>T) c.538G>T (p.Ala180Ser) | |
17 | g.42787348C>A | CA399656460 | WNK4 | c.1547C>A (p.Ala516Asp) n.227C>A c.*48C>A (n.*48C>A) c.539C>A (p.Ala180Asp) | dbSNP gnomAD v4 |
17 | g.42787348C= | CA2260641850 | WNK4 | c.1547C= (p.Ala516=) n.227C= c.*48C= (n.*48C=) c.539C= (p.Ala180=) | |
17 | g.42787348C>G | CA399656463 | WNK4 | c.1547C>G (p.Ala516Gly) n.227C>G c.*48C>G (n.*48C>G) c.539C>G (p.Ala180Gly) | |
17 | g.42787348C>T | CA399656464 | WNK4 | c.1547C>T (p.Ala516Val) n.227C>T c.*48C>T (n.*48C>T) c.539C>T (p.Ala180Val) | |
17 | g.42787349C>A | CA500225396 | WNK4 | c.1548C>A (p.Ala516=) n.228C>A c.*49C>A (n.*49C>A) c.540C>A (p.Ala180=) | gnomAD v4 |
17 | g.42787349C= | CA2260641851 | WNK4 | c.1548C= (p.Ala516=) n.228C= c.*49C= (n.*49C=) c.540C= (p.Ala180=) | |
17 | g.42787349C>G | CA500225397 | WNK4 | c.1548C>G (p.Ala516=) n.228C>G c.*49C>G (n.*49C>G) c.540C>G (p.Ala180=) | |
17 | g.42787349C>T | CA500225398 | WNK4 | c.1548C>T (p.Ala516=) n.228C>T c.*49C>T (n.*49C>T) c.540C>T (p.Ala180=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787350A= | CA2260641852 | WNK4 | c.1549A= (p.Ile517=) n.229A= c.*50A= (n.*50A=) c.541A= (p.Ile181=) | |
17 | g.42787350A>C | CA399656467 | WNK4 | c.1549A>C (p.Ile517Leu) n.229A>C c.*50A>C (n.*50A>C) c.541A>C (p.Ile181Leu) | dbSNP |
17 | g.42787350A>G | CA399656470 | WNK4 | c.1549A>G (p.Ile517Val) n.229A>G c.*50A>G (n.*50A>G) c.541A>G (p.Ile181Val) | |
17 | g.42787350A>T | CA399656473 | WNK4 | c.1549A>T (p.Ile517Phe) n.229A>T c.*50A>T (n.*50A>T) c.541A>T (p.Ile181Phe) | |
17 | g.42787351T>A | CA290785025 | WNK4 | c.1550T>A (p.Ile517Asn) n.230T>A c.*51T>A (n.*51T>A) c.542T>A (p.Ile181Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787351T>C | CA399656480 | WNK4 | c.1550T>C (p.Ile517Thr) n.230T>C c.*51T>C (n.*51T>C) c.542T>C (p.Ile181Thr) | |
17 | g.42787351T>G | CA399656484 | WNK4 | c.1550T>G (p.Ile517Ser) n.230T>G c.*51T>G (n.*51T>G) c.542T>G (p.Ile181Ser) | |
17 | g.42787351T= | CA2260641853 | WNK4 | c.1550T= (p.Ile517=) n.230T= c.*51T= (n.*51T=) c.542T= (p.Ile181=) | |
17 | g.42787352C>A | CA500225399 | WNK4 | c.1551C>A (p.Ile517=) n.231C>A c.*52C>A (n.*52C>A) c.543C>A (p.Ile181=) | COSMIC COSMIC |
17 | g.42787352C>G | CA399656488 | WNK4 | c.1551C>G (p.Ile517Met) n.231C>G c.*52C>G (n.*52C>G) c.543C>G (p.Ile181Met) | |
17 | g.42787352C>T | CA500225400 | WNK4 | c.1551C>T (p.Ile517=) n.231C>T c.*52C>T (n.*52C>T) c.543C>T (p.Ile181=) | |
17 | g.42787353C>A | CA399656497 | WNK4 | c.1552C>A (p.Gln518Lys) n.232C>A c.*53C>A (n.*53C>A) c.544C>A (p.Gln182Lys) | |
17 | g.42787353C>G | CA399656494 | WNK4 | c.1552C>G (p.Gln518Glu) n.232C>G c.*53C>G (n.*53C>G) c.544C>G (p.Gln182Glu) | gnomAD v4 |
17 | g.42787353C>T | CA399656492 | WNK4 | c.1552C>T (p.Gln518Ter) n.232C>T c.*53C>T (n.*53C>T) c.544C>T (p.Gln182Ter) | |
17 | g.42787354A>C | CA399656500 | WNK4 | c.1553A>C (p.Gln518Pro) n.233A>C c.*54A>C (n.*54A>C) c.545A>C (p.Gln182Pro) | |
17 | g.42787354A>G | CA399656502 | WNK4 | c.1553A>G (p.Gln518Arg) n.233A>G c.*54A>G (n.*54A>G) c.545A>G (p.Gln182Arg) | |
17 | g.42787354A>T | CA399656505 | WNK4 | c.1553A>T (p.Gln518Leu) n.233A>T c.*54A>T (n.*54A>T) c.545A>T (p.Gln182Leu) | |
17 | g.42787355G>A | CA290785026 | WNK4 | c.1554G>A (p.Gln518=) n.234G>A c.*55G>A (n.*55G>A) c.546G>A (p.Gln182=) | dbSNP |
17 | g.42787355G>C | CA399656511 | WNK4 | c.1554G>C (p.Gln518His) n.234G>C c.*55G>C (n.*55G>C) c.546G>C (p.Gln182His) | |
17 | g.42787355G= | CA2260641854 | WNK4 | c.1554G= (p.Gln518=) n.234G= c.*55G= (n.*55G=) c.546G= (p.Gln182=) | |
17 | g.42787355G>T | CA399656513 | WNK4 | c.1554G>T (p.Gln518His) n.234G>T c.*55G>T (n.*55G>T) c.546G>T (p.Gln182His) | |
17 | g.42787356C>A | CA500225401 | WNK4 | c.1555C>A (p.Arg519=) n.235C>A c.*56C>A (n.*56C>A) c.547C>A (p.Arg183=) | |
17 | g.42787356C= | CA2260641855 | WNK4 | c.1555C= (p.Arg519=) n.235C= c.*56C= (n.*56C=) c.547C= (p.Arg183=) | |
17 | g.42787356C>G | CA399656517 | WNK4 | c.1555C>G (p.Arg519Gly) n.235C>G c.*56C>G (n.*56C>G) c.547C>G (p.Arg183Gly) | |
17 | g.42787356C>T | CA290785027 | WNK4 | c.1555C>T (p.Arg519Ter) n.235C>T c.*56C>T (n.*56C>T) c.547C>T (p.Arg183Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787357G>A | CA8584022 | WNK4 | c.1556G>A (p.Arg519Gln) n.236G>A c.*57G>A (n.*57G>A) c.548G>A (p.Arg183Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787357G>C | CA399656524 | WNK4 | c.1556G>C (p.Arg519Pro) n.236G>C c.*57G>C (n.*57G>C) c.548G>C (p.Arg183Pro) | |
17 | g.42787357G= | CA2260641856 | WNK4 | c.1556G= (p.Arg519=) n.236G= c.*57G= (n.*57G=) c.548G= (p.Arg183=) | |
17 | g.42787357G>T | CA399656527 | WNK4 | c.1556G>T (p.Arg519Leu) n.236G>T c.*57G>T (n.*57G>T) c.548G>T (p.Arg183Leu) | |
17 | g.42787358A= | CA2260641857 | WNK4 | c.1557A= (p.Arg519=) n.237A= c.*58A= (n.*58A=) c.549A= (p.Arg183=) | |
17 | g.42787358A>C | CA500225402 | WNK4 | c.1557A>C (p.Arg519=) n.237A>C c.*58A>C (n.*58A>C) c.549A>C (p.Arg183=) | |
17 | g.42787358A>G | CA8584023 | WNK4 | c.1557A>G (p.Arg519=) n.237A>G c.*58A>G (n.*58A>G) c.549A>G (p.Arg183=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787358A>T | CA500225403 | WNK4 | c.1557A>T (p.Arg519=) n.237A>T c.*58A>T (n.*58A>T) c.549A>T (p.Arg183=) | |
17 | g.42787359A>C | CA399656541 | WNK4 | c.1558A>C (p.Lys520Gln) n.238A>C c.*59A>C (n.*59A>C) c.550A>C (p.Lys184Gln) | |
17 | g.42787359A>G | CA399656537 | WNK4 | c.1558A>G (p.Lys520Glu) n.238A>G c.*59A>G (n.*59A>G) c.550A>G (p.Lys184Glu) | |
17 | g.42787359A>T | CA399656534 | WNK4 | c.1558A>T (p.Lys520Ter) n.238A>T c.*59A>T (n.*59A>T) c.550A>T (p.Lys184Ter) | |
17 | g.42787360A>C | CA399656543 | WNK4 | c.1559A>C (p.Lys520Thr) n.239A>C c.*60A>C (n.*60A>C) c.551A>C (p.Lys184Thr) | |
17 | g.42787360A>G | CA399656549 | WNK4 | c.1559A>G (p.Lys520Arg) n.239A>G c.*60A>G (n.*60A>G) c.551A>G (p.Lys184Arg) | |
17 | g.42787360A>T | CA399656546 | WNK4 | c.1559A>T (p.Lys520Met) n.239A>T c.*60A>T (n.*60A>T) c.551A>T (p.Lys184Met) | |
17 | g.42787361G>A | CA500225404 | WNK4 | c.1560G>A (p.Lys520=) n.240G>A c.*61G>A (n.*61G>A) c.552G>A (p.Lys184=) | |
17 | g.42787361G>C | CA399656553 | WNK4 | c.1560G>C (p.Lys520Asn) n.240G>C c.*61G>C (n.*61G>C) c.552G>C (p.Lys184Asn) | |
17 | g.42787361G>T | CA399656556 | WNK4 | c.1560G>T (p.Lys520Asn) n.240G>T c.*61G>T (n.*61G>T) c.552G>T (p.Lys184Asn) | |
17 | g.42787362C>A | CA399656560 | WNK4 | c.1561C>A (p.Arg521Ser) n.241C>A c.*62C>A (n.*62C>A) c.553C>A (p.Arg185Ser) | |
17 | g.42787362C= | CA2260641858 | WNK4 | c.1561C= (p.Arg521=) n.241C= c.*62C= (n.*62C=) c.553C= (p.Arg185=) | |
17 | g.42787362C>G | CA399656564 | WNK4 | c.1561C>G (p.Arg521Gly) n.241C>G c.*62C>G (n.*62C>G) c.553C>G (p.Arg185Gly) | |
17 | g.42787362C>T | CA399656567 | WNK4 | c.1561C>T (p.Arg521Cys) n.241C>T c.*62C>T (n.*62C>T) c.553C>T (p.Arg185Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.42787363G>A | CA8584024 | WNK4 | c.1562G>A (p.Arg521His) n.242G>A c.*63G>A (n.*63G>A) c.554G>A (p.Arg185His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787363G>C | CA399656574 | WNK4 | c.1562G>C (p.Arg521Pro) n.242G>C c.*63G>C (n.*63G>C) c.554G>C (p.Arg185Pro) | |
17 | g.42787363G= | CA2260641859 | WNK4 | c.1562G= (p.Arg521=) n.242G= c.*63G= (n.*63G=) c.554G= (p.Arg185=) | |
17 | g.42787363G>T | CA399656577 | WNK4 | c.1562G>T (p.Arg521Leu) n.242G>T c.*63G>T (n.*63G>T) c.554G>T (p.Arg185Leu) | |
17 | g.42787364T>A | CA500225405 | WNK4 | c.1563T>A (p.Arg521=) n.243T>A c.*64T>A (n.*64T>A) c.555T>A (p.Arg185=) | gnomAD v4 |
17 | g.42787364T>C | CA500225406 | WNK4 | c.1563T>C (p.Arg521=) n.243T>C c.*64T>C (n.*64T>C) c.555T>C (p.Arg185=) | |
17 | g.42787364T>G | CA500225407 | WNK4 | c.1563T>G (p.Arg521=) n.243T>G c.*64T>G (n.*64T>G) c.555T>G (p.Arg185=) | |
17 | g.42787365G>A | CA399656580 | WNK4 | c.1564G>A (p.Glu522Lys) n.244G>A c.*65G>A (n.*65G>A) c.556G>A (p.Glu186Lys) | gnomAD v4 |
17 | g.42787365G>C | CA399656582 | WNK4 | c.1564G>C (p.Glu522Gln) n.244G>C c.*65G>C (n.*65G>C) c.556G>C (p.Glu186Gln) | |
17 | g.42787365G= | CA2260641860 | WNK4 | c.1564G= (p.Glu522=) n.244G= c.*65G= (n.*65G=) c.556G= (p.Glu186=) | |
17 | g.42787365G>T | CA8584025 | WNK4 | c.1564G>T (p.Glu522Ter) n.244G>T c.*65G>T (n.*65G>T) c.556G>T (p.Glu186Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787366A>C | CA399656593 | WNK4 | c.1565A>C (p.Glu522Ala) n.245A>C c.*66A>C (n.*66A>C) c.557A>C (p.Glu186Ala) | |
17 | g.42787366A>G | CA399656590 | WNK4 | c.1565A>G (p.Glu522Gly) n.245A>G c.*66A>G (n.*66A>G) c.557A>G (p.Glu186Gly) | |
17 | g.42787366A>T | CA399656588 | WNK4 | c.1565A>T (p.Glu522Val) n.245A>T c.*66A>T (n.*66A>T) c.557A>T (p.Glu186Val) | |
17 | g.42787367G>A | CA500225408 | WNK4 | c.1566G>A (p.Glu522=) n.246G>A c.*67G>A (n.*67G>A) c.558G>A (p.Glu186=) | |
17 | g.42787367G>C | CA399656597 | WNK4 | c.1566G>C (p.Glu522Asp) n.246G>C c.*67G>C (n.*67G>C) c.558G>C (p.Glu186Asp) | dbSNP |
17 | g.42787367G= | CA2260641861 | WNK4 | c.1566G= (p.Glu522=) n.246G= c.*67G= (n.*67G=) c.558G= (p.Glu186=) | |
17 | g.42787367G>T | CA399656599 | WNK4 | c.1566G>T (p.Glu522Asp) n.246G>T c.*67G>T (n.*67G>T) c.558G>T (p.Glu186Asp) | |
17 | g.42787368A>C | CA399656603 | WNK4 | c.1567A>C (p.Lys523Gln) n.247A>C c.*68A>C (n.*68A>C) c.559A>C (p.Lys187Gln) | |
17 | g.42787368A>G | CA399656607 | WNK4 | c.1567A>G (p.Lys523Glu) n.247A>G c.*68A>G (n.*68A>G) c.559A>G (p.Lys187Glu) | |
17 | g.42787368A>T | CA399656609 | WNK4 | c.1567A>T (p.Lys523Ter) n.247A>T c.*68A>T (n.*68A>T) c.559A>T (p.Lys187Ter) | |
17 | g.42787369A>C | CA399656616 | WNK4 | c.1568A>C (p.Lys523Thr) n.248A>C c.*69A>C (n.*69A>C) c.560A>C (p.Lys187Thr) | |
17 | g.42787369A>G | CA399656618 | WNK4 | c.1568A>G (p.Lys523Arg) n.248A>G c.*69A>G (n.*69A>G) c.560A>G (p.Lys187Arg) | |
17 | g.42787369A>T | CA399656621 | WNK4 | c.1568A>T (p.Lys523Met) n.248A>T c.*69A>T (n.*69A>T) c.560A>T (p.Lys187Met) | |
17 | g.42787370G>A | CA500225409 | WNK4 | c.1569G>A (p.Lys523=) n.249G>A c.*70G>A (n.*70G>A) c.561G>A (p.Lys187=) | |
17 | g.42787370G>C | CA399656626 | WNK4 | c.1569G>C (p.Lys523Asn) n.249G>C c.*70G>C (n.*70G>C) c.561G>C (p.Lys187Asn) | |
17 | g.42787370G>T | CA399656629 | WNK4 | c.1569G>T (p.Lys523Asn) n.249G>T c.*70G>T (n.*70G>T) c.561G>T (p.Lys187Asn) | |
17 | g.42787371C>A | CA399656631 | WNK4 | c.1570C>A (p.Leu524Met) n.250C>A c.*71C>A (n.*71C>A) c.562C>A (p.Leu188Met) | |
17 | g.42787371C>G | CA399656632 | WNK4 | c.1570C>G (p.Leu524Val) n.250C>G c.*71C>G (n.*71C>G) c.562C>G (p.Leu188Val) | |
17 | g.42787371C>T | CA500225410 | WNK4 | c.1570C>T (p.Leu524=) n.250C>T c.*71C>T (n.*71C>T) c.562C>T (p.Leu188=) | |
17 | g.42787372T>A | CA399656636 | WNK4 | c.1571T>A (p.Leu524Gln) n.251T>A c.*72T>A (n.*72T>A) c.563T>A (p.Leu188Gln) | |
17 | g.42787372T>C | CA399656635 | WNK4 | c.1571T>C (p.Leu524Pro) n.251T>C c.*72T>C (n.*72T>C) c.563T>C (p.Leu188Pro) | |
17 | g.42787372T>G | CA399656633 | WNK4 | c.1571T>G (p.Leu524Arg) n.251T>G c.*72T>G (n.*72T>G) c.563T>G (p.Leu188Arg) | |
17 | g.42787373G>A | CA500225411 | WNK4 | c.1572G>A (p.Leu524=) n.252G>A c.*73G>A (n.*73G>A) c.564G>A (p.Leu188=) | |
17 | g.42787373G>C | CA500225412 | WNK4 | c.1572G>C (p.Leu524=) n.252G>C c.*73G>C (n.*73G>C) c.564G>C (p.Leu188=) | |
17 | g.42787373G= | CA2260641862 | WNK4 | c.1572G= (p.Leu524=) n.252G= c.*73G= (n.*73G=) c.564G= (p.Leu188=) | |
17 | g.42787373G>T | CA8584026 | WNK4 | c.1572G>T (p.Leu524=) n.252G>T c.*73G>T (n.*73G>T) c.564G>T (p.Leu188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787374C>A | CA399656639 | WNK4 | c.1573C>A (p.Arg525Ser) n.253C>A c.*74C>A (n.*74C>A) c.565C>A (p.Arg189Ser) | |
17 | g.42787374C= | CA2260641863 | WNK4 | c.1573C= (p.Arg525=) n.253C= c.*74C= (n.*74C=) c.565C= (p.Arg189=) | |
17 | g.42787374C>G | CA8584028 | WNK4 | c.1573C>G (p.Arg525Gly) n.253C>G c.*74C>G (n.*74C>G) c.565C>G (p.Arg189Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787374C>T | CA8584027 | WNK4 | c.1573C>T (p.Arg525Cys) n.253C>T c.*74C>T (n.*74C>T) c.565C>T (p.Arg189Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787375del | CA2576279495 | WNK4 | c.1574del (p.Arg525LeufsTer?) n.254del c.*75del (n.*75del) c.566del (p.Arg189LeufsTer?) | |
17 | g.42787375G>A | CA8584029 | WNK4 | c.1574G>A (p.Arg525His) n.254G>A c.*75G>A (n.*75G>A) c.566G>A (p.Arg189His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787375G>C | CA399656645 | WNK4 | c.1574G>C (p.Arg525Pro) n.254G>C c.*75G>C (n.*75G>C) c.566G>C (p.Arg189Pro) | gnomAD v4 |
17 | g.42787375G= | CA2260641864 | WNK4 | c.1574G= (p.Arg525=) n.254G= c.*75G= (n.*75G=) c.566G= (p.Arg189=) | |
17 | g.42787375G>T | CA399656647 | WNK4 | c.1574G>T (p.Arg525Leu) n.254G>T c.*75G>T (n.*75G>T) c.566G>T (p.Arg189Leu) | |
17 | g.42787376T>A | CA500225413 | WNK4 | c.1575T>A (p.Arg525=) n.255T>A c.*76T>A (n.*76T>A) c.567T>A (p.Arg189=) | |
17 | g.42787376T>C | CA500225415 | WNK4 | c.1575T>C (p.Arg525=) n.255T>C c.*76T>C (n.*76T>C) c.567T>C (p.Arg189=) | |
17 | g.42787376T>G | CA500225414 | WNK4 | c.1575T>G (p.Arg525=) n.255T>G c.*76T>G (n.*76T>G) c.567T>G (p.Arg189=) | |
17 | g.42787377A>C | CA399656653 | WNK4 | c.1576A>C (p.Lys526Gln) n.256A>C c.*77A>C (n.*77A>C) c.568A>C (p.Lys190Gln) | |
17 | g.42787377A>G | CA399656655 | WNK4 | c.1576A>G (p.Lys526Glu) n.256A>G c.*77A>G (n.*77A>G) c.568A>G (p.Lys190Glu) | |
17 | g.42787377A>T | CA399656657 | WNK4 | c.1576A>T (p.Lys526Ter) n.256A>T c.*77A>T (n.*77A>T) c.568A>T (p.Lys190Ter) | |
17 | g.42787378A>C | CA399656661 | WNK4 | c.1577A>C (p.Lys526Thr) n.257A>C c.*78A>C (n.*78A>C) c.569A>C (p.Lys190Thr) | |
17 | g.42787378A>G | CA399656662 | WNK4 | c.1577A>G (p.Lys526Arg) n.257A>G c.*78A>G (n.*78A>G) c.569A>G (p.Lys190Arg) | |
17 | g.42787378A>T | CA399656664 | WNK4 | c.1577A>T (p.Lys526Ile) n.257A>T c.*78A>T (n.*78A>T) c.569A>T (p.Lys190Ile) | |
17 | g.42787379A>C | CA399656668 | WNK4 | c.1578A>C (p.Lys526Asn) n.258A>C c.*79A>C (n.*79A>C) c.570A>C (p.Lys190Asn) | |
17 | g.42787379A>G | CA500225416 | WNK4 | c.1578A>G (p.Lys526=) n.258A>G c.*79A>G (n.*79A>G) c.570A>G (p.Lys190=) | |
17 | g.42787379A>T | CA399656666 | WNK4 | c.1578A>T (p.Lys526Asn) n.258A>T c.*79A>T (n.*79A>T) c.570A>T (p.Lys190Asn) | |
17 | g.42787380G>A | CA399656671 | WNK4 | c.1579G>A (p.Ala527Thr) n.259G>A c.*80G>A (n.*80G>A) c.571G>A (p.Ala191Thr) | dbSNP |
17 | g.42787380G>C | CA399656673 | WNK4 | c.1579G>C (p.Ala527Pro) n.259G>C c.*80G>C (n.*80G>C) c.571G>C (p.Ala191Pro) | |
17 | g.42787380G= | CA2260641865 | WNK4 | c.1579G= (p.Ala527=) n.259G= c.*80G= (n.*80G=) c.571G= (p.Ala191=) | |
17 | g.42787380G>T | CA399656675 | WNK4 | c.1579G>T (p.Ala527Ser) n.259G>T c.*80G>T (n.*80G>T) c.571G>T (p.Ala191Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787381C>A | CA399656679 | WNK4 | c.1580C>A (p.Ala527Glu) n.260C>A c.*81C>A (n.*81C>A) c.572C>A (p.Ala191Glu) | |
17 | g.42787381C>G | CA399656681 | WNK4 | c.1580C>G (p.Ala527Gly) n.260C>G c.*81C>G (n.*81C>G) c.572C>G (p.Ala191Gly) | gnomAD v4 |
17 | g.42787381C>T | CA399656683 | WNK4 | c.1580C>T (p.Ala527Val) n.260C>T c.*81C>T (n.*81C>T) c.572C>T (p.Ala191Val) | |
17 | g.42787382A>C | CA500225417 | WNK4 | c.1581A>C (p.Ala527=) n.261A>C c.*82A>C (n.*82A>C) c.573A>C (p.Ala191=) | |
17 | g.42787382A>G | CA500225418 | WNK4 | c.1581A>G (p.Ala527=) n.261A>G c.*82A>G (n.*82A>G) c.573A>G (p.Ala191=) | gnomAD v4 |
17 | g.42787382A>T | CA500225420 | WNK4 | c.1581A>T (p.Ala527=) n.261A>T c.*82A>T (n.*82A>T) c.573A>T (p.Ala191=) | |
17 | g.42787383A>C | CA500225423 | WNK4 | c.1582A>C (p.Arg528=) n.262A>C c.*83A>C (n.*83A>C) c.574A>C (p.Arg192=) | |
17 | g.42787383A>G | CA399656685 | WNK4 | c.1582A>G (p.Arg528Gly) n.262A>G c.*83A>G (n.*83A>G) c.574A>G (p.Arg192Gly) | |
17 | g.42787383A>T | CA399656686 | WNK4 | c.1582A>T (p.Arg528Trp) n.262A>T c.*83A>T (n.*83A>T) c.574A>T (p.Arg192Trp) | |
17 | g.42787384G>A | CA8584030 | WNK4 | c.1583G>A (p.Arg528Lys) n.263G>A c.*84G>A (n.*84G>A) c.575G>A (p.Arg192Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787384G>C | CA399656691 | WNK4 | c.1583G>C (p.Arg528Thr) n.263G>C c.*84G>C (n.*84G>C) c.575G>C (p.Arg192Thr) | |
17 | g.42787384G= | CA2260641866 | WNK4 | c.1583G= (p.Arg528=) n.263G= c.*84G= (n.*84G=) c.575G= (p.Arg192=) | |
17 | g.42787384G>T | CA399656693 | WNK4 | c.1583G>T (p.Arg528Met) n.263G>T c.*84G>T (n.*84G>T) c.575G>T (p.Arg192Met) | |
17 | g.42787385G>A | CA500225424 | WNK4 | c.1584G>A (p.Arg528=) n.264G>A c.*85G>A (n.*85G>A) c.576G>A (p.Arg192=) | |
17 | g.42787385G>C | CA399656695 | WNK4 | c.1584G>C (p.Arg528Ser) n.264G>C c.*85G>C (n.*85G>C) c.576G>C (p.Arg192Ser) | |
17 | g.42787385G>T | CA399656698 | WNK4 | c.1584G>T (p.Arg528Ser) n.264G>T c.*85G>T (n.*85G>T) c.576G>T (p.Arg192Ser) | |
17 | g.42787386G>A | CA8584031 | WNK4 | c.1585G>A (p.Glu529Lys) n.265G>A c.*86G>A (n.*86G>A) c.577G>A (p.Glu193Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787386G>C | CA399656704 | WNK4 | c.1585G>C (p.Glu529Gln) n.265G>C c.*86G>C (n.*86G>C) c.577G>C (p.Glu193Gln) | |
17 | g.42787386G= | CA2260641867 | WNK4 | c.1585G= (p.Glu529=) n.265G= c.*86G= (n.*86G=) c.577G= (p.Glu193=) | |
17 | g.42787386G>T | CA399656702 | WNK4 | c.1585G>T (p.Glu529Ter) n.265G>T c.*86G>T (n.*86G>T) c.577G>T (p.Glu193Ter) | |
17 | g.42787387A>C | CA399656708 | WNK4 | c.1586A>C (p.Glu529Ala) n.266A>C c.*87A>C (n.*87A>C) c.578A>C (p.Glu193Ala) | |
17 | g.42787387A>G | CA399656710 | WNK4 | c.1586A>G (p.Glu529Gly) n.266A>G c.*87A>G (n.*87A>G) c.578A>G (p.Glu193Gly) | |
17 | g.42787387A>T | CA399656709 | WNK4 | c.1586A>T (p.Glu529Val) n.266A>T c.*87A>T (n.*87A>T) c.578A>T (p.Glu193Val) | |
17 | g.42787388A>C | CA399656712 | WNK4 | c.1587A>C (p.Glu529Asp) n.267A>C c.*88A>C (n.*88A>C) c.579A>C (p.Glu193Asp) | |
17 | g.42787388A>G | CA500225428 | WNK4 | c.1587A>G (p.Glu529=) n.267A>G c.*88A>G (n.*88A>G) c.579A>G (p.Glu193=) | |
17 | g.42787388A>T | CA399656714 | WNK4 | c.1587A>T (p.Glu529Asp) n.267A>T c.*88A>T (n.*88A>T) c.579A>T (p.Glu193Asp) | |
17 | g.42787389T>A | CA399656715 | WNK4 | c.1588T>A (p.Leu530Met) n.268T>A c.*89T>A (n.*89T>A) c.580T>A (p.Leu194Met) | |
17 | g.42787389T>C | CA500225433 | WNK4 | c.1588T>C (p.Leu530=) n.268T>C c.*89T>C (n.*89T>C) c.580T>C (p.Leu194=) | gnomAD v4 |
17 | g.42787389T>G | CA399656717 | WNK4 | c.1588T>G (p.Leu530Val) n.268T>G c.*89T>G (n.*89T>G) c.580T>G (p.Leu194Val) | |
17 | g.42787390T>A | CA399656724 | WNK4 | c.1589T>A (p.Leu530Ter) n.269T>A c.*90T>A (n.*90T>A) c.581T>A (p.Leu194Ter) | |
17 | g.42787390T>C | CA399656727 | WNK4 | c.1589T>C (p.Leu530Ser) n.269T>C c.*90T>C (n.*90T>C) c.581T>C (p.Leu194Ser) | |
17 | g.42787390T>G | CA399656730 | WNK4 | c.1589T>G (p.Leu530Trp) n.269T>G c.*90T>G (n.*90T>G) c.581T>G (p.Leu194Trp) | |
17 | g.42787391G>A | CA8584032 | WNK4 | c.1590G>A (p.Leu530=) n.270G>A c.*91G>A (n.*91G>A) c.582G>A (p.Leu194=) | dbSNP ExAC gnomAD v2 |
17 | g.42787391G>C | CA399656732 | WNK4 | c.1590G>C (p.Leu530Phe) n.270G>C c.*91G>C (n.*91G>C) c.582G>C (p.Leu194Phe) | |
17 | g.42787391G= | CA2260641868 | WNK4 | c.1590G= (p.Leu530=) n.270G= c.*91G= (n.*91G=) c.582G= (p.Leu194=) | |
17 | g.42787391G>T | CA399656735 | WNK4 | c.1590G>T (p.Leu530Phe) n.270G>T c.*91G>T (n.*91G>T) c.582G>T (p.Leu194Phe) | |
17 | g.42787392G>A | CA399656742 | WNK4 | c.1591G>A (p.Glu531Lys) n.271G>A c.*92G>A (n.*92G>A) c.583G>A (p.Glu195Lys) | |
17 | g.42787392G>C | CA399656745 | WNK4 | c.1591G>C (p.Glu531Gln) n.271G>C c.*92G>C (n.*92G>C) c.583G>C (p.Glu195Gln) | |
17 | g.42787392G>T | CA399656746 | WNK4 | c.1591G>T (p.Glu531Ter) n.271G>T c.*92G>T (n.*92G>T) c.583G>T (p.Glu195Ter) | |
17 | g.42787393A>C | CA399656747 | WNK4 | c.1592A>C (p.Glu531Ala) n.272A>C c.*93A>C (n.*93A>C) c.584A>C (p.Glu195Ala) | |
17 | g.42787393A>G | CA399656750 | WNK4 | c.1592A>G (p.Glu531Gly) n.272A>G c.*93A>G (n.*93A>G) c.584A>G (p.Glu195Gly) | gnomAD v4 |
17 | g.42787393A>T | CA399656752 | WNK4 | c.1592A>T (p.Glu531Val) n.272A>T c.*93A>T (n.*93A>T) c.584A>T (p.Glu195Val) | |
17 | g.42787394G>A | CA8584033 | WNK4 | c.1593G>A (p.Glu531=) n.273G>A c.*94G>A (n.*94G>A) c.585G>A (p.Glu195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787394G>C | CA399656761 | WNK4 | c.1593G>C (p.Glu531Asp) n.273G>C c.*94G>C (n.*94G>C) c.585G>C (p.Glu195Asp) | |
17 | g.42787394G= | CA2260641869 | WNK4 | c.1593G= (p.Glu531=) n.273G= c.*94G= (n.*94G=) c.585G= (p.Glu195=) | |
17 | g.42787394G>T | CA399656759 | WNK4 | c.1593G>T (p.Glu531Asp) n.273G>T c.*94G>T (n.*94G>T) c.585G>T (p.Glu195Asp) | |
17 | g.42787395G>A | CA399656766 | WNK4 | c.1594G>A (p.Ala532Thr) n.274G>A c.*95G>A (n.*95G>A) c.586G>A (p.Ala196Thr) | |
17 | g.42787395G>C | CA399656768 | WNK4 | c.1594G>C (p.Ala532Pro) n.274G>C c.*95G>C (n.*95G>C) c.586G>C (p.Ala196Pro) | |
17 | g.42787395G= | CA2260641870 | WNK4 | c.1594G= (p.Ala532=) n.274G= c.*95G= (n.*95G=) c.586G= (p.Ala196=) | |
17 | g.42787395G>T | CA399656771 | WNK4 | c.1594G>T (p.Ala532Ser) n.274G>T c.*95G>T (n.*95G>T) c.586G>T (p.Ala196Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787396C>A | CA399656773 | WNK4 | c.1595C>A (p.Ala532Glu) n.275C>A c.*96C>A (n.*96C>A) c.587C>A (p.Ala196Glu) | |
17 | g.42787396C= | CA2260641871 | WNK4 | c.1595C= (p.Ala532=) n.275C= c.*96C= (n.*96C=) c.587C= (p.Ala196=) | |
17 | g.42787396C>G | CA399656775 | WNK4 | c.1595C>G (p.Ala532Gly) n.275C>G c.*96C>G (n.*96C>G) c.587C>G (p.Ala196Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787396C>T | CA399656778 | WNK4 | c.1595C>T (p.Ala532Val) n.275C>T c.*96C>T (n.*96C>T) c.587C>T (p.Ala196Val) | |
17 | g.42787397A>C | CA500225445 | WNK4 | c.1596A>C (p.Ala532=) n.276A>C c.*97A>C (n.*97A>C) c.588A>C (p.Ala196=) | gnomAD v3 gnomAD v4 |
17 | g.42787397A>G | CA500225447 | WNK4 | c.1596A>G (p.Ala532=) n.276A>G c.*97A>G (n.*97A>G) c.588A>G (p.Ala196=) | |
17 | g.42787397A>T | CA500225449 | WNK4 | c.1596A>T (p.Ala532=) n.276A>T c.*97A>T (n.*97A>T) c.588A>T (p.Ala196=) | |
17 | g.42787398C>A | CA399656783 | WNK4 | c.1597C>A (p.Leu533Ile) n.277C>A c.*98C>A (n.*98C>A) c.589C>A (p.Leu197Ile) | |
17 | g.42787398C= | CA2260641872 | WNK4 | c.1597C= (p.Leu533=) n.277C= c.*98C= (n.*98C=) c.589C= (p.Leu197=) | |
17 | g.42787398C>G | CA399656784 | WNK4 | c.1597C>G (p.Leu533Val) n.277C>G c.*98C>G (n.*98C>G) c.589C>G (p.Leu197Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787398C>T | CA399656786 | WNK4 | c.1597C>T (p.Leu533Phe) n.277C>T c.*98C>T (n.*98C>T) c.589C>T (p.Leu197Phe) | |
17 | g.42787399T>A | CA399656791 | WNK4 | c.1598T>A (p.Leu533His) n.278T>A c.*99T>A (n.*99T>A) c.590T>A (p.Leu197His) | |
17 | g.42787399T>C | CA290785064 | WNK4 | c.1598T>C (p.Leu533Pro) n.278T>C c.*99T>C (n.*99T>C) c.590T>C (p.Leu197Pro) | dbSNP gnomAD v4 |
17 | g.42787399T>G | CA399656801 | WNK4 | c.1598T>G (p.Leu533Arg) n.278T>G c.*99T>G (n.*99T>G) c.590T>G (p.Leu197Arg) | |
17 | g.42787399T= | CA2260641873 | WNK4 | c.1598T= (p.Leu533=) n.278T= c.*99T= (n.*99T=) c.590T= (p.Leu197=) | |
17 | g.42787400C>A | CA500225450 | WNK4 | c.1599C>A (p.Leu533=) n.279C>A c.*100C>A (n.*100C>A) c.591C>A (p.Leu197=) | |
17 | g.42787400C>G | CA500225452 | WNK4 | c.1599C>G (p.Leu533=) n.279C>G c.*100C>G (n.*100C>G) c.591C>G (p.Leu197=) | |
17 | g.42787400C>T | CA500225451 | WNK4 | c.1599C>T (p.Leu533=) n.279C>T c.*100C>T (n.*100C>T) c.591C>T (p.Leu197=) | COSMIC COSMIC |
17 | g.42787401C>A | CA399656810 | WNK4 | c.1600C>A (p.Pro534Thr) n.280C>A c.*101C>A (n.*101C>A) c.592C>A (p.Pro198Thr) | |
17 | g.42787401C>G | CA399656808 | WNK4 | c.1600C>G (p.Pro534Ala) n.280C>G c.*101C>G (n.*101C>G) c.592C>G (p.Pro198Ala) | |
17 | g.42787401C>T | CA399656809 | WNK4 | c.1600C>T (p.Pro534Ser) n.280C>T c.*101C>T (n.*101C>T) c.592C>T (p.Pro198Ser) | |
17 | g.42787402C>A | CA399656811 | WNK4 | c.1601C>A (p.Pro534Gln) n.281C>A c.*102C>A (n.*102C>A) c.593C>A (p.Pro198Gln) | |
17 | g.42787402C>G | CA399656813 | WNK4 | c.1601C>G (p.Pro534Arg) n.281C>G c.*102C>G (n.*102C>G) c.593C>G (p.Pro198Arg) | |
17 | g.42787402C>T | CA399656812 | WNK4 | c.1601C>T (p.Pro534Leu) n.281C>T c.*102C>T (n.*102C>T) c.593C>T (p.Pro198Leu) | gnomAD v4 |
17 | g.42787403A>C | CA500225459 | WNK4 | c.1602A>C (p.Pro534=) n.282A>C c.*103A>C (n.*103A>C) c.594A>C (p.Pro198=) | |
17 | g.42787403A>G | CA500225457 | WNK4 | c.1602A>G (p.Pro534=) n.282A>G c.*103A>G (n.*103A>G) c.594A>G (p.Pro198=) | gnomAD v4 |
17 | g.42787403A>T | CA500225458 | WNK4 | c.1602A>T (p.Pro534=) n.282A>T c.*103A>T (n.*103A>T) c.594A>T (p.Pro198=) | |
17 | g.42787404C>A | CA399656814 | WNK4 | c.1603C>A (p.Pro535Thr) n.283C>A c.*104C>A (n.*104C>A) c.595C>A (p.Pro199Thr) | |
17 | g.42787404C= | CA2260641874 | WNK4 | c.1603C= (p.Pro535=) n.283C= c.*104C= (n.*104C=) c.595C= (p.Pro199=) | |
17 | g.42787404C>G | CA399656822 | WNK4 | c.1603C>G (p.Pro535Ala) n.283C>G c.*104C>G (n.*104C>G) c.595C>G (p.Pro199Ala) | gnomAD v4 |
17 | g.42787404C>T | CA290785066 | WNK4 | c.1603C>T (p.Pro535Ser) n.283C>T c.*104C>T (n.*104C>T) c.595C>T (p.Pro199Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787405C>A | CA399656836 | WNK4 | c.1604C>A (p.Pro535Gln) n.284C>A c.*105C>A (n.*105C>A) c.596C>A (p.Pro199Gln) | |
17 | g.42787405C>G | CA399656838 | WNK4 | c.1604C>G (p.Pro535Arg) n.284C>G c.*105C>G (n.*105C>G) c.596C>G (p.Pro199Arg) | |
17 | g.42787405C>T | CA399656842 | WNK4 | c.1604C>T (p.Pro535Leu) n.284C>T c.*105C>T (n.*105C>T) c.596C>T (p.Pro199Leu) | |
17 | g.42787406A>C | CA500225460 | WNK4 | c.1605A>C (p.Pro535=) n.285A>C c.*106A>C (n.*106A>C) c.597A>C (p.Pro199=) | |
17 | g.42787406A>G | CA500225462 | WNK4 | c.1605A>G (p.Pro535=) n.285A>G c.*106A>G (n.*106A>G) c.597A>G (p.Pro199=) | |
17 | g.42787406A>T | CA500225463 | WNK4 | c.1605A>T (p.Pro535=) n.285A>T c.*106A>T (n.*106A>T) c.597A>T (p.Pro199=) | |
17 | g.42787407G>A | CA399656846 | WNK4 | c.1606G>A (p.Glu536Lys) n.286G>A c.*107G>A (n.*107G>A) c.598G>A (p.Glu200Lys) | gnomAD v4 |
17 | g.42787407G>C | CA399656849 | WNK4 | c.1606G>C (p.Glu536Gln) n.286G>C c.*107G>C (n.*107G>C) c.598G>C (p.Glu200Gln) | gnomAD v4 |
17 | g.42787407G>T | CA399656851 | WNK4 | c.1606G>T (p.Glu536Ter) n.286G>T c.*107G>T (n.*107G>T) c.598G>T (p.Glu200Ter) | |
17 | g.42787408A= | CA2260641875 | WNK4 | c.1607A= (p.Glu536=) n.287A= c.*108A= (n.*108A=) c.599A= (p.Glu200=) | |
17 | g.42787408A>C | CA399656854 | WNK4 | c.1607A>C (p.Glu536Ala) n.287A>C c.*108A>C (n.*108A>C) c.599A>C (p.Glu200Ala) | |
17 | g.42787408A>G | CA399656855 | WNK4 | c.1607A>G (p.Glu536Gly) n.287A>G c.*108A>G (n.*108A>G) c.599A>G (p.Glu200Gly) | |
17 | g.42787408A>T | CA399656856 | WNK4 | c.1607A>T (p.Glu536Val) n.287A>T c.*108A>T (n.*108A>T) c.599A>T (p.Glu200Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787409G>A | CA500225464 | WNK4 | c.1608G>A (p.Glu536=) n.288G>A c.*109G>A (n.*109G>A) c.600G>A (p.Glu200=) | gnomAD v4 |
17 | g.42787409G>C | CA399656858 | WNK4 | c.1608G>C (p.Glu536Asp) n.288G>C c.*109G>C (n.*109G>C) c.600G>C (p.Glu200Asp) | |
17 | g.42787409G>T | CA399656860 | WNK4 | c.1608G>T (p.Glu536Asp) n.288G>T c.*109G>T (n.*109G>T) c.600G>T (p.Glu200Asp) | |
17 | g.42787410C>A | CA399656864 | WNK4 | c.1609C>A (p.Pro537Thr) n.289C>A c.*110C>A (n.*110C>A) c.601C>A (p.Pro201Thr) | |
17 | g.42787410C>G | CA399656865 | WNK4 | c.1609C>G (p.Pro537Ala) n.289C>G c.*110C>G (n.*110C>G) c.601C>G (p.Pro201Ala) | |
17 | g.42787410C>T | CA399656866 | WNK4 | c.1609C>T (p.Pro537Ser) n.289C>T c.*110C>T (n.*110C>T) c.601C>T (p.Pro201Ser) | dbSNP COSMIC COSMIC |
17 | g.42787411C>A | CA8584034 | WNK4 | c.1610C>A (p.Pro537Gln) n.290C>A c.*111C>A (n.*111C>A) c.602C>A (p.Pro201Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787411C= | CA2260641876 | WNK4 | c.1610C= (p.Pro537=) n.290C= c.*111C= (n.*111C=) c.602C= (p.Pro201=) | |
17 | g.42787411C>G | CA399656869 | WNK4 | c.1610C>G (p.Pro537Arg) n.290C>G c.*111C>G (n.*111C>G) c.602C>G (p.Pro201Arg) | gnomAD v4 |
17 | g.42787411C>T | CA399656871 | WNK4 | c.1610C>T (p.Pro537Leu) n.290C>T c.*111C>T (n.*111C>T) c.602C>T (p.Pro201Leu) | |
17 | g.42787412A>C | CA500225466 | WNK4 | c.1611A>C (p.Pro537=) n.291A>C c.*112A>C (n.*112A>C) c.603A>C (p.Pro201=) | |
17 | g.42787412A>G | CA500225467 | WNK4 | c.1611A>G (p.Pro537=) n.291A>G c.*112A>G (n.*112A>G) c.603A>G (p.Pro201=) | |
17 | g.42787412A>T | CA500225468 | WNK4 | c.1611A>T (p.Pro537=) n.291A>T c.*112A>T (n.*112A>T) c.603A>T (p.Pro201=) | |
17 | g.42787413G>A | CA399656874 | WNK4 | c.1612G>A (p.Gly538Arg) n.292G>A c.*113G>A (n.*113G>A) c.604G>A (p.Gly202Arg) | |
17 | g.42787413G>C | CA399656877 | WNK4 | c.1612G>C (p.Gly538Arg) n.292G>C c.*113G>C (n.*113G>C) c.604G>C (p.Gly202Arg) | |
17 | g.42787413G>T | CA399656882 | WNK4 | c.1612G>T (p.Gly538Ter) n.292G>T c.*113G>T (n.*113G>T) c.604G>T (p.Gly202Ter) | |
17 | g.42787414G>A | CA290785069 | WNK4 | c.1613G>A (p.Gly538Glu) n.293G>A c.*114G>A (n.*114G>A) c.605G>A (p.Gly202Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.42787414G>C | CA399656887 | WNK4 | c.1613G>C (p.Gly538Ala) n.293G>C c.*114G>C (n.*114G>C) c.605G>C (p.Gly202Ala) | |
17 | g.42787414G= | CA2260641877 | WNK4 | c.1613G= (p.Gly538=) n.293G= c.*114G= (n.*114G=) c.605G= (p.Gly202=) | |
17 | g.42787414G>T | CA399656889 | WNK4 | c.1613G>T (p.Gly538Val) n.293G>T c.*114G>T (n.*114G>T) c.605G>T (p.Gly202Val) | |
17 | g.42787414_42787415delinsGA | CA2260641878 | WNK4 | c.1613_1614delinsGA (p.Gly538=) n.293_294delinsGA c.*114_*115delinsGA (n.*114_*115delinsGA) c.605_606delinsGA (p.Gly202=) | |
17 | g.42787415del | CA913012326 | WNK4 | c.1614del (p.Pro539LeufsTer?) n.294del c.*115del (n.*115del) c.606del (p.Pro203LeufsTer?) | dbSNP gnomAD v4 |
17 | g.42787415A>C | CA500225474 | WNK4 | c.1614A>C (p.Gly538=) n.294A>C c.*115A>C (n.*115A>C) c.606A>C (p.Gly202=) | gnomAD v4 |
17 | g.42787415A>G | CA500225472 | WNK4 | c.1614A>G (p.Gly538=) n.294A>G c.*115A>G (n.*115A>G) c.606A>G (p.Gly202=) | |
17 | g.42787415A>T | CA500225473 | WNK4 | c.1614A>T (p.Gly538=) n.294A>T c.*115A>T (n.*115A>T) c.606A>T (p.Gly202=) | |
17 | g.42787416C>A | CA399656893 | WNK4 | c.1615C>A (p.Pro539Thr) n.295C>A c.*116C>A (n.*116C>A) c.607C>A (p.Pro203Thr) | |
17 | g.42787416C= | CA2260641879 | WNK4 | c.1615C= (p.Pro539=) n.295C= c.*116C= (n.*116C=) c.607C= (p.Pro203=) | |
17 | g.42787416C>G | CA399656900 | WNK4 | c.1615C>G (p.Pro539Ala) n.295C>G c.*116C>G (n.*116C>G) c.607C>G (p.Pro203Ala) | |
17 | g.42787416C>T | CA8584035 | WNK4 | c.1615C>T (p.Pro539Ser) n.295C>T c.*116C>T (n.*116C>T) c.607C>T (p.Pro203Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787417C>A | CA399656904 | WNK4 | c.1616C>A (p.Pro539His) n.296C>A c.*117C>A (n.*117C>A) c.608C>A (p.Pro203His) | |
17 | g.42787417C= | CA2260641880 | WNK4 | c.1616C= (p.Pro539=) n.296C= c.*117C= (n.*117C=) c.608C= (p.Pro203=) | |
17 | g.42787417C>G | CA399656912 | WNK4 | c.1616C>G (p.Pro539Arg) n.296C>G c.*117C>G (n.*117C>G) c.608C>G (p.Pro203Arg) | gnomAD v4 |
17 | g.42787417C>T | CA8584036 | WNK4 | c.1616C>T (p.Pro539Leu) n.296C>T c.*117C>T (n.*117C>T) c.608C>T (p.Pro203Leu) | dbSNP ExAC gnomAD v2 |
17 | g.42787418T>A | CA500225477 | WNK4 | c.1617T>A (p.Pro539=) n.297T>A c.*118T>A (n.*118T>A) c.609T>A (p.Pro203=) | |
17 | g.42787418T>C | CA500225478 | WNK4 | c.1617T>C (p.Pro539=) n.297T>C c.*118T>C (n.*118T>C) c.609T>C (p.Pro203=) | |
17 | g.42787418T>G | CA500225479 | WNK4 | c.1617T>G (p.Pro539=) n.297T>G c.*118T>G (n.*118T>G) c.609T>G (p.Pro203=) | |
17 | g.42787419C>A | CA399656917 | WNK4 | c.1618C>A (p.Pro540Thr) n.298C>A c.*119C>A (n.*119C>A) c.610C>A (p.Pro204Thr) | |
17 | g.42787419C>G | CA399656919 | WNK4 | c.1618C>G (p.Pro540Ala) n.298C>G c.*119C>G (n.*119C>G) c.610C>G (p.Pro204Ala) | |
17 | g.42787419C>T | CA399656922 | WNK4 | c.1618C>T (p.Pro540Ser) n.298C>T c.*119C>T (n.*119C>T) c.610C>T (p.Pro204Ser) | |
17 | g.42787420C>A | CA399656929 | WNK4 | c.1619C>A (p.Pro540Gln) n.299C>A c.*120C>A (n.*120C>A) c.611C>A (p.Pro204Gln) | |
17 | g.42787420C>G | CA399656927 | WNK4 | c.1619C>G (p.Pro540Arg) n.299C>G c.*120C>G (n.*120C>G) c.611C>G (p.Pro204Arg) | |
17 | g.42787420C>T | CA399656925 | WNK4 | c.1619C>T (p.Pro540Leu) n.299C>T c.*120C>T (n.*120C>T) c.611C>T (p.Pro204Leu) | |
17 | g.42787421A= | CA2260641881 | WNK4 | c.1620A= (p.Pro540=) n.300A= c.*121A= (n.*121A=) c.612A= (p.Pro204=) | |
17 | g.42787421A>C | CA500225419 | WNK4 | c.1620A>C (p.Pro540=) n.300A>C c.*121A>C (n.*121A>C) c.612A>C (p.Pro204=) | dbSNP |
17 | g.42787421A>G | CA500225421 | WNK4 | c.1620A>G (p.Pro540=) n.300A>G c.*121A>G (n.*121A>G) c.612A>G (p.Pro204=) | |
17 | g.42787421A>T | CA500225422 | WNK4 | c.1620A>T (p.Pro540=) n.300A>T c.*121A>T (n.*121A>T) c.612A>T (p.Pro204=) | |
17 | g.42787422C>A | CA399656931 | WNK4 | c.1621C>A (p.Pro541Thr) n.301C>A c.*122C>A (n.*122C>A) c.613C>A (p.Pro205Thr) | |
17 | g.42787422C= | CA2260641882 | WNK4 | c.1621C= (p.Pro541=) n.301C= c.*122C= (n.*122C=) c.613C= (p.Pro205=) | |
17 | g.42787422C>G | CA399656934 | WNK4 | c.1621C>G (p.Pro541Ala) n.301C>G c.*122C>G (n.*122C>G) c.613C>G (p.Pro205Ala) | dbSNP |
17 | g.42787422C>T | CA399656938 | WNK4 | c.1621C>T (p.Pro541Ser) n.301C>T c.*122C>T (n.*122C>T) c.613C>T (p.Pro205Ser) | |
17 | g.42787423C>A | CA399656943 | WNK4 | c.1622C>A (p.Pro541Gln) n.302C>A c.*123C>A (n.*123C>A) c.614C>A (p.Pro205Gln) | |
17 | g.42787423C>G | CA399656946 | WNK4 | c.1622C>G (p.Pro541Arg) n.302C>G c.*123C>G (n.*123C>G) c.614C>G (p.Pro205Arg) | |
17 | g.42787423C>T | CA399656953 | WNK4 | c.1622C>T (p.Pro541Leu) n.302C>T c.*123C>T (n.*123C>T) c.614C>T (p.Pro205Leu) | |
17 | g.42787424A= | CA2260641883 | WNK4 | c.1623A= (p.Pro541=) n.303A= c.*124A= (n.*124A=) c.615A= (p.Pro205=) | |
17 | g.42787424A>C | CA500225425 | WNK4 | c.1623A>C (p.Pro541=) n.303A>C c.*124A>C (n.*124A>C) c.615A>C (p.Pro205=) | |
17 | g.42787424A>G | CA290785077 | WNK4 | c.1623A>G (p.Pro541=) n.303A>G c.*124A>G (n.*124A>G) c.615A>G (p.Pro205=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787424A>T | CA500225426 | WNK4 | c.1623A>T (p.Pro541=) n.303A>T c.*124A>T (n.*124A>T) c.615A>T (p.Pro205=) | |
17 | g.42787425G>A | CA399656958 | WNK4 | c.1624G>A (p.Ala542Thr) n.304G>A c.*125G>A (n.*125G>A) c.616G>A (p.Ala206Thr) | |
17 | g.42787425G>C | CA399656968 | WNK4 | c.1624G>C (p.Ala542Pro) n.304G>C c.*125G>C (n.*125G>C) c.616G>C (p.Ala206Pro) | |
17 | g.42787425G>T | CA399656961 | WNK4 | c.1624G>T (p.Ala542Ser) n.304G>T c.*125G>T (n.*125G>T) c.616G>T (p.Ala206Ser) | |
17 | g.42787426C>A | CA399656972 | WNK4 | c.1625C>A (p.Ala542Glu) n.305C>A c.*126C>A (n.*126C>A) c.617C>A (p.Ala206Glu) | |
17 | g.42787426C>G | CA399656975 | WNK4 | c.1625C>G (p.Ala542Gly) n.305C>G c.*126C>G (n.*126C>G) c.617C>G (p.Ala206Gly) | |
17 | g.42787426C>T | CA399656976 | WNK4 | c.1625C>T (p.Ala542Val) n.305C>T c.*126C>T (n.*126C>T) c.617C>T (p.Ala206Val) | |
17 | g.42787427A>C | CA500225434 | WNK4 | c.1626A>C (p.Ala542=) n.306A>C c.*127A>C (n.*127A>C) c.618A>C (p.Ala206=) | |
17 | g.42787427A>G | CA500225430 | WNK4 | c.1626A>G (p.Ala542=) n.306A>G c.*127A>G (n.*127A>G) c.618A>G (p.Ala206=) | |
17 | g.42787427A>T | CA500225432 | WNK4 | c.1626A>T (p.Ala542=) n.306A>T c.*127A>T (n.*127A>T) c.618A>T (p.Ala206=) | |
17 | g.42787428A= | CA2260641884 | WNK4 | c.1627A= (p.Thr543=) n.307A= c.*128A= (n.*128A=) c.619A= (p.Thr207=) | |
17 | g.42787428A>C | CA399656977 | WNK4 | c.1627A>C (p.Thr543Pro) n.307A>C c.*128A>C (n.*128A>C) c.619A>C (p.Thr207Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787428A>G | CA399656978 | WNK4 | c.1627A>G (p.Thr543Ala) n.307A>G c.*128A>G (n.*128A>G) c.619A>G (p.Thr207Ala) | gnomAD v4 |
17 | g.42787428A>T | CA399656980 | WNK4 | c.1627A>T (p.Thr543Ser) n.307A>T c.*128A>T (n.*128A>T) c.619A>T (p.Thr207Ser) | |
17 | g.42787429C>A | CA399656981 | WNK4 | c.1628C>A (p.Thr543Asn) n.308C>A c.*129C>A (n.*129C>A) c.620C>A (p.Thr207Asn) | |
17 | g.42787429C>G | CA399656982 | WNK4 | c.1628C>G (p.Thr543Ser) n.308C>G c.*129C>G (n.*129C>G) c.620C>G (p.Thr207Ser) | |
17 | g.42787429C>T | CA399656985 | WNK4 | c.1628C>T (p.Thr543Ile) n.308C>T c.*129C>T (n.*129C>T) c.620C>T (p.Thr207Ile) | |
17 | g.42787430T>A | CA500225437 | WNK4 | c.1629T>A (p.Thr543=) n.309T>A c.*130T>A (n.*130T>A) c.621T>A (p.Thr207=) | |
17 | g.42787430T>C | CA500225439 | WNK4 | c.1629T>C (p.Thr543=) n.309T>C c.*130T>C (n.*130T>C) c.621T>C (p.Thr207=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787430T>G | CA500225440 | WNK4 | c.1629T>G (p.Thr543=) n.309T>G c.*130T>G (n.*130T>G) c.621T>G (p.Thr207=) | |
17 | g.42787430T= | CA2260641885 | WNK4 | c.1629T= (p.Thr543=) n.309T= c.*130T= (n.*130T=) c.621T= (p.Thr207=) | |
17 | g.42787432_42787433del | CA645572785 | WNK4 | c.1631_1632del (p.Val544AlafsTer13) n.311_312del c.*132_*133del (n.*132_*133del) c.623_624del (p.Val208AlafsTer13) | COSMIC COSMIC |
17 | g.42787431G>A | CA8584037 | WNK4 | c.1630G>A (p.Val544Met) n.310G>A c.*131G>A (n.*131G>A) c.622G>A (p.Val208Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787431G>C | CA399656988 | WNK4 | c.1630G>C (p.Val544Leu) n.310G>C c.*131G>C (n.*131G>C) c.622G>C (p.Val208Leu) | |
17 | g.42787431G= | CA2260641886 | WNK4 | c.1630G= (p.Val544=) n.310G= c.*131G= (n.*131G=) c.622G= (p.Val208=) | |
17 | g.42787431G>T | CA399656990 | WNK4 | c.1630G>T (p.Val544Leu) n.310G>T c.*131G>T (n.*131G>T) c.622G>T (p.Val208Leu) | |
17 | g.42787432T>A | CA399656993 | WNK4 | c.1631T>A (p.Val544Glu) n.311T>A c.*132T>A (n.*132T>A) c.623T>A (p.Val208Glu) | |
17 | g.42787432T>C | CA399656995 | WNK4 | c.1631T>C (p.Val544Ala) n.311T>C c.*132T>C (n.*132T>C) c.623T>C (p.Val208Ala) | gnomAD v4 |
17 | g.42787432T>G | CA399656994 | WNK4 | c.1631T>G (p.Val544Gly) n.311T>G c.*132T>G (n.*132T>G) c.623T>G (p.Val208Gly) | |
17 | g.42787433G>A | CA500225442 | WNK4 | c.1632G>A (p.Val544=) n.312G>A c.*133G>A (n.*133G>A) c.624G>A (p.Val208=) | gnomAD v4 |
17 | g.42787433G>C | CA500225444 | WNK4 | c.1632G>C (p.Val544=) n.312G>C c.*133G>C (n.*133G>C) c.624G>C (p.Val208=) | |
17 | g.42787433G>T | CA500225448 | WNK4 | c.1632G>T (p.Val544=) n.312G>T c.*133G>T (n.*133G>T) c.624G>T (p.Val208=) | |
17 | g.42787434C>A | CA399656998 | WNK4 | c.1633C>A (p.Pro545Thr) n.313C>A c.*134C>A (n.*134C>A) c.625C>A (p.Pro209Thr) | |
17 | g.42787434C>G | CA399657001 | WNK4 | c.1633C>G (p.Pro545Ala) n.313C>G c.*134C>G (n.*134C>G) c.625C>G (p.Pro209Ala) | |
17 | g.42787434C>T | CA399657006 | WNK4 | c.1633C>T (p.Pro545Ser) n.313C>T c.*134C>T (n.*134C>T) c.625C>T (p.Pro209Ser) | |
17 | g.42787435C>A | CA399657009 | WNK4 | c.1634C>A (p.Pro545His) n.314C>A c.*135C>A (n.*135C>A) c.626C>A (p.Pro209His) | |
17 | g.42787435C>G | CA399657011 | WNK4 | c.1634C>G (p.Pro545Arg) n.314C>G c.*135C>G (n.*135C>G) c.626C>G (p.Pro209Arg) | |
17 | g.42787435C>T | CA399657016 | WNK4 | c.1634C>T (p.Pro545Leu) n.314C>T c.*135C>T (n.*135C>T) c.626C>T (p.Pro209Leu) | |
17 | g.42787436C>A | CA500225454 | WNK4 | c.1635C>A (p.Pro545=) n.315C>A c.*136C>A (n.*136C>A) c.627C>A (p.Pro209=) | |
17 | g.42787436C= | CA2260641887 | WNK4 | c.1635C= (p.Pro545=) n.315C= c.*136C= (n.*136C=) c.627C= (p.Pro209=) | |
17 | g.42787436C>G | CA500225456 | WNK4 | c.1635C>G (p.Pro545=) n.315C>G c.*136C>G (n.*136C>G) c.627C>G (p.Pro209=) | |
17 | g.42787436C>T | CA500225455 | WNK4 | c.1635C>T (p.Pro545=) n.315C>T c.*136C>T (n.*136C>T) c.627C>T (p.Pro209=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787437A= | CA2260641888 | WNK4 | c.1636A= (p.Met546=) n.316A= c.*137A= (n.*137A=) c.628A= (p.Met210=) | |
17 | g.42787437A>C | CA8584038 | WNK4 | c.1636A>C (p.Met546Leu) n.316A>C c.*137A>C (n.*137A>C) c.628A>C (p.Met210Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787437A>G | CA399657022 | WNK4 | c.1636A>G (p.Met546Val) n.316A>G c.*137A>G (n.*137A>G) c.628A>G (p.Met210Val) | dbSNP gnomAD v4 |
17 | g.42787437A>T | CA399657024 | WNK4 | c.1636A>T (p.Met546Leu) n.316A>T c.*137A>T (n.*137A>T) c.628A>T (p.Met210Leu) | |
17 | g.42787437_42787438insGGGGGGGGGGGGGGGGGGG | CA2733784814 | WNK4 | c.1636_1637insGGGGGGGGGGGGGGGGGGG (p.Met546ArgfsTer18) n.316_317insGGGGGGGGGGGGGGGGGGG c.*137_*138insGGGGGGGGGGGGGGGGGGG (n.*137_*138insGGGGGGGGGGGGGGGGGGG) c.628_629insGGGGGGGGGGGGGGGGGGG (p.Met210ArgfsTer18) | dbSNP |
17 | g.42787438T>A | CA399657025 | WNK4 | c.1637T>A (p.Met546Lys) n.317T>A c.*138T>A (n.*138T>A) c.629T>A (p.Met210Lys) | |
17 | g.42787438T>C | CA399657028 | WNK4 | c.1637T>C (p.Met546Thr) n.317T>C c.*138T>C (n.*138T>C) c.629T>C (p.Met210Thr) | |
17 | g.42787438T>G | CA399657033 | WNK4 | c.1637T>G (p.Met546Arg) n.317T>G c.*138T>G (n.*138T>G) c.629T>G (p.Met210Arg) | dbSNP gnomAD v4 |
17 | g.42787439G>A | CA399657047 | WNK4 | c.1638G>A (p.Met546Ile) n.318G>A c.*139G>A (n.*139G>A) c.630G>A (p.Met210Ile) | |
17 | g.42787439G>C | CA399657038 | WNK4 | c.1638G>C (p.Met546Ile) n.318G>C c.*139G>C (n.*139G>C) c.630G>C (p.Met210Ile) | |
17 | g.42787439G>T | CA399657041 | WNK4 | c.1638G>T (p.Met546Ile) n.318G>T c.*139G>T (n.*139G>T) c.630G>T (p.Met210Ile) | |
17 | g.42787440_42787441insGGGGGGGGGGGGG | CA2733784822 | WNK4 | c.1639_1640insGGGGGGGGGGGGG (p.Ala547GlyfsTer15) n.319_320insGGGGGGGGGGGGG c.*140_*141insGGGGGGGGGGGGG (n.*140_*141insGGGGGGGGGGGGG) c.631_632insGGGGGGGGGGGGG (p.Ala211GlyfsTer15) | dbSNP |
17 | g.42787440_42787441insGGGGGGGGGGGGGGGGGGGGGG | CA2733784887 | WNK4 | c.1639_1640insGGGGGGGGGGGGGGGGGGGGGG (p.Ala547GlyfsTer18) n.319_320insGGGGGGGGGGGGGGGGGGGGGG c.*140_*141insGGGGGGGGGGGGGGGGGGGGGG (n.*140_*141insGGGGGGGGGGGGGGGGGGGGGG) c.631_632insGGGGGGGGGGGGGGGGGGGGGG (p.Ala211GlyfsTer18) | dbSNP |
17 | g.42787439_42787447dup | CA2638017042 | WNK4 | c.1638_1646dup (p.Gly549_Pro550insAlaProGly) n.318_326dup c.*139_*147dup (n.*139_*147dup) c.630_638dup (p.Gly213_Pro214insAlaProGly) | gnomAD v4 |
17 | g.42787440G>A | CA399657054 | WNK4 | c.1639G>A (p.Ala547Thr) n.319G>A c.*140G>A (n.*140G>A) c.631G>A (p.Ala211Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787440G>C | CA399657056 | WNK4 | c.1639G>C (p.Ala547Pro) n.319G>C c.*140G>C (n.*140G>C) c.631G>C (p.Ala211Pro) | |
17 | g.42787440G= | CA2260641889 | WNK4 | c.1639G= (p.Ala547=) n.319G= c.*140G= (n.*140G=) c.631G= (p.Ala211=) | |
17 | g.42787440G>T | CA399657060 | WNK4 | c.1639G>T (p.Ala547Ser) n.319G>T c.*140G>T (n.*140G>T) c.631G>T (p.Ala211Ser) | |
17 | g.42787441C>A | CA8584040 | WNK4 | c.1640C>A (p.Ala547Asp) n.320C>A c.*141C>A (n.*141C>A) c.632C>A (p.Ala211Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787441C= | CA2260641890 | WNK4 | c.1640C= (p.Ala547=) n.320C= c.*141C= (n.*141C=) c.632C= (p.Ala211=) | |
17 | g.42787441C>G | CA399657067 | WNK4 | c.1640C>G (p.Ala547Gly) n.320C>G c.*141C>G (n.*141C>G) c.632C>G (p.Ala211Gly) | gnomAD v4 |
17 | g.42787441C>T | CA8584039 | WNK4 | c.1640C>T (p.Ala547Val) n.320C>T c.*141C>T (n.*141C>T) c.632C>T (p.Ala211Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787445dup | CA2809532571 | WNK4 | c.1644dup (p.Gly549ArgfsTer9) n.324dup c.*145dup (n.*145dup) c.636dup (p.Gly213ArgfsTer9) | |
17 | g.42787445del | CA2638017043 | WNK4 | c.1644del (p.Gly549ValfsTer?) n.324del c.*145del (n.*145del) c.636del (p.Gly213ValfsTer?) | gnomAD v4 |
17 | g.42787442C>A | CA8584042 | WNK4 | c.1641C>A (p.Ala547=) n.321C>A c.*142C>A (n.*142C>A) c.633C>A (p.Ala211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787442C= | CA2260641891 | WNK4 | c.1641C= (p.Ala547=) n.321C= c.*142C= (n.*142C=) c.633C= (p.Ala211=) | |
17 | g.42787442C>G | CA500225465 | WNK4 | c.1641C>G (p.Ala547=) n.321C>G c.*142C>G (n.*142C>G) c.633C>G (p.Ala211=) | gnomAD v4 |
17 | g.42787442C>T | CA8584041 | WNK4 | c.1641C>T (p.Ala547=) n.321C>T c.*142C>T (n.*142C>T) c.633C>T (p.Ala211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787443C>A | CA399657080 | WNK4 | c.1642C>A (p.Pro548Thr) n.322C>A c.*143C>A (n.*143C>A) c.634C>A (p.Pro212Thr) | |
17 | g.42787443C= | CA2260641892 | WNK4 | c.1642C= (p.Pro548=) n.322C= c.*143C= (n.*143C=) c.634C= (p.Pro212=) | |
17 | g.42787443C>G | CA8584043 | WNK4 | c.1642C>G (p.Pro548Ala) n.322C>G c.*143C>G (n.*143C>G) c.634C>G (p.Pro212Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787443C>T | CA399657084 | WNK4 | c.1642C>T (p.Pro548Ser) n.322C>T c.*143C>T (n.*143C>T) c.634C>T (p.Pro212Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787444C>A | CA399657089 | WNK4 | c.1643C>A (p.Pro548His) n.323C>A c.*144C>A (n.*144C>A) c.635C>A (p.Pro212His) | |
17 | g.42787444C= | CA2260641893 | WNK4 | c.1643C= (p.Pro548=) n.323C= c.*144C= (n.*144C=) c.635C= (p.Pro212=) | |
17 | g.42787444C>G | CA399657096 | WNK4 | c.1643C>G (p.Pro548Arg) n.323C>G c.*144C>G (n.*144C>G) c.635C>G (p.Pro212Arg) | gnomAD v4 |
17 | g.42787444C>T | CA399657094 | WNK4 | c.1643C>T (p.Pro548Leu) n.323C>T c.*144C>T (n.*144C>T) c.635C>T (p.Pro212Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787445C>A | CA500225475 | WNK4 | c.1644C>A (p.Pro548=) n.324C>A c.*145C>A (n.*145C>A) c.636C>A (p.Pro212=) | gnomAD v4 |
17 | g.42787445C= | CA2260641894 | WNK4 | c.1644C= (p.Pro548=) n.324C= c.*145C= (n.*145C=) c.636C= (p.Pro212=) | |
17 | g.42787445C>G | CA500225476 | WNK4 | c.1644C>G (p.Pro548=) n.324C>G c.*145C>G (n.*145C>G) c.636C>G (p.Pro212=) | dbSNP |
17 | g.42787445C>T | CA8584044 | WNK4 | c.1644C>T (p.Pro548=) n.324C>T c.*145C>T (n.*145C>T) c.636C>T (p.Pro212=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787447_42787448insGGGGCGG | CA2638017044 | WNK4 | c.1646_1647insGGGGCGG (p.Pro550GlyfsTer10) n.326_327insGGGGCGG c.*147_*148insGGGGCGG (n.*147_*148insGGGGCGG) c.638_639insGGGGCGG (p.Pro214GlyfsTer10) | gnomAD v4 |