Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.50090746A>CCA516678984CLCN5c.2220A>C (p.Pro740=)
c.1542A>C (p.Pro514=)
c.2010A>C (p.Pro670=)
c.2507A>C
c.*1395A>C (n.*1395A>C)
c.2070A>C (p.Pro690=)
c.2292A>C (p.Pro764=)
c.2082A>C (p.Pro694=)
c.2232A>C (p.Pro744=)
Xg.50090746A>GCA516678986CLCN5c.2220A>G (p.Pro740=)
c.1542A>G (p.Pro514=)
c.2010A>G (p.Pro670=)
c.2507A>G
c.*1395A>G (n.*1395A>G)
c.2070A>G (p.Pro690=)
c.2292A>G (p.Pro764=)
c.2082A>G (p.Pro694=)
c.2232A>G (p.Pro744=)
Xg.50090746A>TCA516678985CLCN5c.2220A>T (p.Pro740=)
c.1542A>T (p.Pro514=)
c.2010A>T (p.Pro670=)
c.2507A>T
c.*1395A>T (n.*1395A>T)
c.2070A>T (p.Pro690=)
c.2292A>T (p.Pro764=)
c.2082A>T (p.Pro694=)
c.2232A>T (p.Pro744=)
Xg.50090747C>ACA413190866CLCN5c.2221C>A (p.Pro741Thr)
c.1543C>A (p.Pro515Thr)
c.2011C>A (p.Pro671Thr)
c.2508C>A
c.*1396C>A (n.*1396C>A)
c.2071C>A (p.Pro691Thr)
c.2293C>A (p.Pro765Thr)
c.2083C>A (p.Pro695Thr)
c.2233C>A (p.Pro745Thr)
Xg.50090747C=CA2428770166CLCN5c.2221C= (p.Pro741=)
c.1543C= (p.Pro515=)
c.2011C= (p.Pro671=)
c.2508C=
c.*1396C= (n.*1396C=)
c.2071C= (p.Pro691=)
c.2293C= (p.Pro765=)
c.2083C= (p.Pro695=)
c.2233C= (p.Pro745=)
Xg.50090747C>GCA413190869CLCN5c.2221C>G (p.Pro741Ala)
c.1543C>G (p.Pro515Ala)
c.2011C>G (p.Pro671Ala)
c.2508C>G
c.*1396C>G (n.*1396C>G)
c.2071C>G (p.Pro691Ala)
c.2293C>G (p.Pro765Ala)
c.2083C>G (p.Pro695Ala)
c.2233C>G (p.Pro745Ala)
Xg.50090747C>TCA10413978CLCN5c.2221C>T (p.Pro741Ser)
c.1543C>T (p.Pro515Ser)
c.2011C>T (p.Pro671Ser)
c.2508C>T
c.*1396C>T (n.*1396C>T)
c.2071C>T (p.Pro691Ser)
c.2293C>T (p.Pro765Ser)
c.2083C>T (p.Pro695Ser)
c.2233C>T (p.Pro745Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50090748C>ACA413190873CLCN5c.2222C>A (p.Pro741Gln)
c.1544C>A (p.Pro515Gln)
c.2012C>A (p.Pro671Gln)
c.2509C>A
c.*1397C>A (n.*1397C>A)
c.2072C>A (p.Pro691Gln)
c.2294C>A (p.Pro765Gln)
c.2084C>A (p.Pro695Gln)
c.2234C>A (p.Pro745Gln)
Xg.50090748C=CA2428770167CLCN5c.2222C= (p.Pro741=)
c.1544C= (p.Pro515=)
c.2012C= (p.Pro671=)
c.2509C=
c.*1397C= (n.*1397C=)
c.2072C= (p.Pro691=)
c.2294C= (p.Pro765=)
c.2084C= (p.Pro695=)
c.2234C= (p.Pro745=)
Xg.50090748C>GCA413190875CLCN5c.2222C>G (p.Pro741Arg)
c.1544C>G (p.Pro515Arg)
c.2012C>G (p.Pro671Arg)
c.2509C>G
c.*1397C>G (n.*1397C>G)
c.2072C>G (p.Pro691Arg)
c.2294C>G (p.Pro765Arg)
c.2084C>G (p.Pro695Arg)
c.2234C>G (p.Pro745Arg)
Xg.50090748C>TCA413190877CLCN5c.2222C>T (p.Pro741Leu)
c.1544C>T (p.Pro515Leu)
c.2012C>T (p.Pro671Leu)
c.2509C>T
c.*1397C>T (n.*1397C>T)
c.2072C>T (p.Pro691Leu)
c.2294C>T (p.Pro765Leu)
c.2084C>T (p.Pro695Leu)
c.2234C>T (p.Pro745Leu)
 dbSNP gnomAD v4
Xg.50090749A=CA2428770168CLCN5c.2223A= (p.Pro741=)
c.1545A= (p.Pro515=)
c.2013A= (p.Pro671=)
c.2510A=
c.*1398A= (n.*1398A=)
c.2073A= (p.Pro691=)
c.2295A= (p.Pro765=)
c.2085A= (p.Pro695=)
c.2235A= (p.Pro745=)
Xg.50090749A>CCA516678998CLCN5c.2223A>C (p.Pro741=)
c.1545A>C (p.Pro515=)
c.2013A>C (p.Pro671=)
c.2510A>C
c.*1398A>C (n.*1398A>C)
c.2073A>C (p.Pro691=)
c.2295A>C (p.Pro765=)
c.2085A>C (p.Pro695=)
c.2235A>C (p.Pro745=)
Xg.50090749A>GCA516679000CLCN5c.2223A>G (p.Pro741=)
c.1545A>G (p.Pro515=)
c.2013A>G (p.Pro671=)
c.2510A>G
c.*1398A>G (n.*1398A>G)
c.2073A>G (p.Pro691=)
c.2295A>G (p.Pro765=)
c.2085A>G (p.Pro695=)
c.2235A>G (p.Pro745=)
 dbSNP gnomAD v4
Xg.50090749A>TCA516679001CLCN5c.2223A>T (p.Pro741=)
c.1545A>T (p.Pro515=)
c.2013A>T (p.Pro671=)
c.2510A>T
c.*1398A>T (n.*1398A>T)
c.2073A>T (p.Pro691=)
c.2295A>T (p.Pro765=)
c.2085A>T (p.Pro695=)
c.2235A>T (p.Pro745=)
Xg.50090750T>ACA413190878CLCN5c.2224T>A (p.Tyr742Asn)
c.1546T>A (p.Tyr516Asn)
c.2014T>A (p.Tyr672Asn)
c.2511T>A
c.*1399T>A (n.*1399T>A)
c.2074T>A (p.Tyr692Asn)
c.2296T>A (p.Tyr766Asn)
c.2086T>A (p.Tyr696Asn)
c.2236T>A (p.Tyr746Asn)
Xg.50090750T>CCA413190880CLCN5c.2224T>C (p.Tyr742His)
c.1546T>C (p.Tyr516His)
c.2014T>C (p.Tyr672His)
c.2511T>C
c.*1399T>C (n.*1399T>C)
c.2074T>C (p.Tyr692His)
c.2296T>C (p.Tyr766His)
c.2086T>C (p.Tyr696His)
c.2236T>C (p.Tyr746His)
Xg.50090750T>GCA413190882CLCN5c.2224T>G (p.Tyr742Asp)
c.1546T>G (p.Tyr516Asp)
c.2014T>G (p.Tyr672Asp)
c.2511T>G
c.*1399T>G (n.*1399T>G)
c.2074T>G (p.Tyr692Asp)
c.2296T>G (p.Tyr766Asp)
c.2086T>G (p.Tyr696Asp)
c.2236T>G (p.Tyr746Asp)
Xg.50090751A=CA2428770169CLCN5c.2225A= (p.Tyr742=)
c.1547A= (p.Tyr516=)
c.2015A= (p.Tyr672=)
c.2512A=
c.*1400A= (n.*1400A=)
c.2075A= (p.Tyr692=)
c.2297A= (p.Tyr766=)
c.2087A= (p.Tyr696=)
c.2237A= (p.Tyr746=)
Xg.50090751A>CCA413190885CLCN5c.2225A>C (p.Tyr742Ser)
c.1547A>C (p.Tyr516Ser)
c.2015A>C (p.Tyr672Ser)
c.2512A>C
c.*1400A>C (n.*1400A>C)
c.2075A>C (p.Tyr692Ser)
c.2297A>C (p.Tyr766Ser)
c.2087A>C (p.Tyr696Ser)
c.2237A>C (p.Tyr746Ser)
Xg.50090751A>GCA329782611CLCN5c.2225A>G (p.Tyr742Cys)
c.1547A>G (p.Tyr516Cys)
c.2015A>G (p.Tyr672Cys)
c.2512A>G
c.*1400A>G (n.*1400A>G)
c.2075A>G (p.Tyr692Cys)
c.2297A>G (p.Tyr766Cys)
c.2087A>G (p.Tyr696Cys)
c.2237A>G (p.Tyr746Cys)
 dbSNP
Xg.50090751A>TCA413190888CLCN5c.2225A>T (p.Tyr742Phe)
c.1547A>T (p.Tyr516Phe)
c.2015A>T (p.Tyr672Phe)
c.2512A>T
c.*1400A>T (n.*1400A>T)
c.2075A>T (p.Tyr692Phe)
c.2297A>T (p.Tyr766Phe)
c.2087A>T (p.Tyr696Phe)
c.2237A>T (p.Tyr746Phe)
Xg.50090752C>ACA413190890CLCN5c.2226C>A (p.Tyr742Ter)
c.1548C>A (p.Tyr516Ter)
c.2016C>A (p.Tyr672Ter)
c.2513C>A
c.*1401C>A (n.*1401C>A)
c.2076C>A (p.Tyr692Ter)
c.2298C>A (p.Tyr766Ter)
c.2088C>A (p.Tyr696Ter)
c.2238C>A (p.Tyr746Ter)
Xg.50090752C>GCA413190891CLCN5c.2226C>G (p.Tyr742Ter)
c.1548C>G (p.Tyr516Ter)
c.2016C>G (p.Tyr672Ter)
c.2513C>G
c.*1401C>G (n.*1401C>G)
c.2076C>G (p.Tyr692Ter)
c.2298C>G (p.Tyr766Ter)
c.2088C>G (p.Tyr696Ter)
c.2238C>G (p.Tyr746Ter)
Xg.50090752C>TCA516679015CLCN5c.2226C>T (p.Tyr742=)
c.1548C>T (p.Tyr516=)
c.2016C>T (p.Tyr672=)
c.2513C>T
c.*1401C>T (n.*1401C>T)
c.2076C>T (p.Tyr692=)
c.2298C>T (p.Tyr766=)
c.2088C>T (p.Tyr696=)
c.2238C>T (p.Tyr746=)
Xg.50090753A>CCA413190893CLCN5c.2227A>C (p.Thr743Pro)
c.1549A>C (p.Thr517Pro)
c.2017A>C (p.Thr673Pro)
c.2514A>C
c.*1402A>C (n.*1402A>C)
c.2077A>C (p.Thr693Pro)
c.2299A>C (p.Thr767Pro)
c.2089A>C (p.Thr697Pro)
c.2239A>C (p.Thr747Pro)
Xg.50090753A>GCA413190895CLCN5c.2227A>G (p.Thr743Ala)
c.1549A>G (p.Thr517Ala)
c.2017A>G (p.Thr673Ala)
c.2514A>G
c.*1402A>G (n.*1402A>G)
c.2077A>G (p.Thr693Ala)
c.2299A>G (p.Thr767Ala)
c.2089A>G (p.Thr697Ala)
c.2239A>G (p.Thr747Ala)
Xg.50090753A>TCA413190897CLCN5c.2227A>T (p.Thr743Ser)
c.1549A>T (p.Thr517Ser)
c.2017A>T (p.Thr673Ser)
c.2514A>T
c.*1402A>T (n.*1402A>T)
c.2077A>T (p.Thr693Ser)
c.2299A>T (p.Thr767Ser)
c.2089A>T (p.Thr697Ser)
c.2239A>T (p.Thr747Ser)
Xg.50090754C>ACA413190899CLCN5c.2228C>A (p.Thr743Asn)
c.1550C>A (p.Thr517Asn)
c.2018C>A (p.Thr673Asn)
c.2515C>A
c.*1403C>A (n.*1403C>A)
c.2078C>A (p.Thr693Asn)
c.2300C>A (p.Thr767Asn)
c.2090C>A (p.Thr697Asn)
c.2240C>A (p.Thr747Asn)
 dbSNP
Xg.50090754C=CA2428770170CLCN5c.2228C= (p.Thr743=)
c.1550C= (p.Thr517=)
c.2018C= (p.Thr673=)
c.2515C=
c.*1403C= (n.*1403C=)
c.2078C= (p.Thr693=)
c.2300C= (p.Thr767=)
c.2090C= (p.Thr697=)
c.2240C= (p.Thr747=)
Xg.50090754C>GCA413190901CLCN5c.2228C>G (p.Thr743Ser)
c.1550C>G (p.Thr517Ser)
c.2018C>G (p.Thr673Ser)
c.2515C>G
c.*1403C>G (n.*1403C>G)
c.2078C>G (p.Thr693Ser)
c.2300C>G (p.Thr767Ser)
c.2090C>G (p.Thr697Ser)
c.2240C>G (p.Thr747Ser)
Xg.50090754C>TCA413190903CLCN5c.2228C>T (p.Thr743Ile)
c.1550C>T (p.Thr517Ile)
c.2018C>T (p.Thr673Ile)
c.2515C>T
c.*1403C>T (n.*1403C>T)
c.2078C>T (p.Thr693Ile)
c.2300C>T (p.Thr767Ile)
c.2090C>T (p.Thr697Ile)
c.2240C>T (p.Thr747Ile)
Xg.50090755T>ACA10413979CLCN5c.2229T>A (p.Thr743=)
c.1551T>A (p.Thr517=)
c.2019T>A (p.Thr673=)
c.2516T>A
c.*1404T>A (n.*1404T>A)
c.2079T>A (p.Thr693=)
c.2301T>A (p.Thr767=)
c.2091T>A (p.Thr697=)
c.2241T>A (p.Thr747=)
 dbSNP ExAC gnomAD v2
Xg.50090755T>CCA516679027CLCN5c.2229T>C (p.Thr743=)
c.1551T>C (p.Thr517=)
c.2019T>C (p.Thr673=)
c.2516T>C
c.*1404T>C (n.*1404T>C)
c.2079T>C (p.Thr693=)
c.2301T>C (p.Thr767=)
c.2091T>C (p.Thr697=)
c.2241T>C (p.Thr747=)
Xg.50090755T>GCA516679028CLCN5c.2229T>G (p.Thr743=)
c.1551T>G (p.Thr517=)
c.2019T>G (p.Thr673=)
c.2516T>G
c.*1404T>G (n.*1404T>G)
c.2079T>G (p.Thr693=)
c.2301T>G (p.Thr767=)
c.2091T>G (p.Thr697=)
c.2241T>G (p.Thr747=)
Xg.50090755T=CA2428770171CLCN5c.2229T= (p.Thr743=)
c.1551T= (p.Thr517=)
c.2019T= (p.Thr673=)
c.2516T=
c.*1404T= (n.*1404T=)
c.2079T= (p.Thr693=)
c.2301T= (p.Thr767=)
c.2091T= (p.Thr697=)
c.2241T= (p.Thr747=)
Xg.50090756C>ACA413190905CLCN5c.2230C>A (p.Pro744Thr)
c.1552C>A (p.Pro518Thr)
c.2020C>A (p.Pro674Thr)
c.2517C>A
c.*1405C>A (n.*1405C>A)
c.2080C>A (p.Pro694Thr)
c.2302C>A (p.Pro768Thr)
c.2092C>A (p.Pro698Thr)
c.2242C>A (p.Pro748Thr)
Xg.50090756C>GCA413190908CLCN5c.2230C>G (p.Pro744Ala)
c.1552C>G (p.Pro518Ala)
c.2020C>G (p.Pro674Ala)
c.2517C>G
c.*1405C>G (n.*1405C>G)
c.2080C>G (p.Pro694Ala)
c.2302C>G (p.Pro768Ala)
c.2092C>G (p.Pro698Ala)
c.2242C>G (p.Pro748Ala)
Xg.50090756C>TCA413190906CLCN5c.2230C>T (p.Pro744Ser)
c.1552C>T (p.Pro518Ser)
c.2020C>T (p.Pro674Ser)
c.2517C>T
c.*1405C>T (n.*1405C>T)
c.2080C>T (p.Pro694Ser)
c.2302C>T (p.Pro768Ser)
c.2092C>T (p.Pro698Ser)
c.2242C>T (p.Pro748Ser)
 COSMIC COSMIC
Xg.50090757C>ACA413190910CLCN5c.2231C>A (p.Pro744Gln)
c.1553C>A (p.Pro518Gln)
c.2021C>A (p.Pro674Gln)
c.2518C>A
c.*1406C>A (n.*1406C>A)
c.2081C>A (p.Pro694Gln)
c.2303C>A (p.Pro768Gln)
c.2093C>A (p.Pro698Gln)
c.2243C>A (p.Pro748Gln)
Xg.50090757C=CA2428770172CLCN5c.2231C= (p.Pro744=)
c.1553C= (p.Pro518=)
c.2021C= (p.Pro674=)
c.2518C=
c.*1406C= (n.*1406C=)
c.2081C= (p.Pro694=)
c.2303C= (p.Pro768=)
c.2093C= (p.Pro698=)
c.2243C= (p.Pro748=)
Xg.50090757C>GCA413190913CLCN5c.2231C>G (p.Pro744Arg)
c.1553C>G (p.Pro518Arg)
c.2021C>G (p.Pro674Arg)
c.2518C>G
c.*1406C>G (n.*1406C>G)
c.2081C>G (p.Pro694Arg)
c.2303C>G (p.Pro768Arg)
c.2093C>G (p.Pro698Arg)
c.2243C>G (p.Pro748Arg)
Xg.50090757C>TCA413190915CLCN5c.2231C>T (p.Pro744Leu)
c.1553C>T (p.Pro518Leu)
c.2021C>T (p.Pro674Leu)
c.2518C>T
c.*1406C>T (n.*1406C>T)
c.2081C>T (p.Pro694Leu)
c.2303C>T (p.Pro768Leu)
c.2093C>T (p.Pro698Leu)
c.2243C>T (p.Pro748Leu)
 dbSNP gnomAD v4
Xg.50090758A=CA2428770173CLCN5c.2232A= (p.Pro744=)
c.1554A= (p.Pro518=)
c.2022A= (p.Pro674=)
c.2519A=
c.*1407A= (n.*1407A=)
c.2082A= (p.Pro694=)
c.2304A= (p.Pro768=)
c.2094A= (p.Pro698=)
c.2244A= (p.Pro748=)
Xg.50090758A>CCA516679036CLCN5c.2232A>C (p.Pro744=)
c.1554A>C (p.Pro518=)
c.2022A>C (p.Pro674=)
c.2519A>C
c.*1407A>C (n.*1407A>C)
c.2082A>C (p.Pro694=)
c.2304A>C (p.Pro768=)
c.2094A>C (p.Pro698=)
c.2244A>C (p.Pro748=)
Xg.50090758A>GCA10413980CLCN5c.2232A>G (p.Pro744=)
c.1554A>G (p.Pro518=)
c.2022A>G (p.Pro674=)
c.2519A>G
c.*1407A>G (n.*1407A>G)
c.2082A>G (p.Pro694=)
c.2304A>G (p.Pro768=)
c.2094A>G (p.Pro698=)
c.2244A>G (p.Pro748=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50090758A>TCA516679034CLCN5c.2232A>T (p.Pro744=)
c.1554A>T (p.Pro518=)
c.2022A>T (p.Pro674=)
c.2519A>T
c.*1407A>T (n.*1407A>T)
c.2082A>T (p.Pro694=)
c.2304A>T (p.Pro768=)
c.2094A>T (p.Pro698=)
c.2244A>T (p.Pro748=)
Xg.50090759C>ACA413190921CLCN5c.2233C>A (p.Pro745Thr)
c.1555C>A (p.Pro519Thr)
c.2023C>A (p.Pro675Thr)
c.2520C>A
c.*1408C>A (n.*1408C>A)
c.2083C>A (p.Pro695Thr)
c.2305C>A (p.Pro769Thr)
c.2095C>A (p.Pro699Thr)
c.2245C>A (p.Pro749Thr)
Xg.50090759C>GCA413190926CLCN5c.2233C>G (p.Pro745Ala)
c.1555C>G (p.Pro519Ala)
c.2023C>G (p.Pro675Ala)
c.2520C>G
c.*1408C>G (n.*1408C>G)
c.2083C>G (p.Pro695Ala)
c.2305C>G (p.Pro769Ala)
c.2095C>G (p.Pro699Ala)
c.2245C>G (p.Pro749Ala)
 gnomAD v4
Xg.50090759C>TCA413190923CLCN5c.2233C>T (p.Pro745Ser)
c.1555C>T (p.Pro519Ser)
c.2023C>T (p.Pro675Ser)
c.2520C>T
c.*1408C>T (n.*1408C>T)
c.2083C>T (p.Pro695Ser)
c.2305C>T (p.Pro769Ser)
c.2095C>T (p.Pro699Ser)
c.2245C>T (p.Pro749Ser)
Xg.50090760C>ACA413190929CLCN5c.2234C>A (p.Pro745His)
c.1556C>A (p.Pro519His)
c.2024C>A (p.Pro675His)
c.2521C>A
c.*1409C>A (n.*1409C>A)
c.2084C>A (p.Pro695His)
c.2306C>A (p.Pro769His)
c.2096C>A (p.Pro699His)
c.2246C>A (p.Pro749His)
 gnomAD v4
Xg.50090760C=CA2428770174CLCN5c.2234C= (p.Pro745=)
c.1556C= (p.Pro519=)
c.2024C= (p.Pro675=)
c.2521C=
c.*1409C= (n.*1409C=)
c.2084C= (p.Pro695=)
c.2306C= (p.Pro769=)
c.2096C= (p.Pro699=)
c.2246C= (p.Pro749=)
Xg.50090760C>GCA413190931CLCN5c.2234C>G (p.Pro745Arg)
c.1556C>G (p.Pro519Arg)
c.2024C>G (p.Pro675Arg)
c.2521C>G
c.*1409C>G (n.*1409C>G)
c.2084C>G (p.Pro695Arg)
c.2306C>G (p.Pro769Arg)
c.2096C>G (p.Pro699Arg)
c.2246C>G (p.Pro749Arg)
 ClinVar dbSNP
Xg.50090760C>TCA413190932CLCN5c.2234C>T (p.Pro745Leu)
c.1556C>T (p.Pro519Leu)
c.2024C>T (p.Pro675Leu)
c.2521C>T
c.*1409C>T (n.*1409C>T)
c.2084C>T (p.Pro695Leu)
c.2306C>T (p.Pro769Leu)
c.2096C>T (p.Pro699Leu)
c.2246C>T (p.Pro749Leu)
 COSMIC
Xg.50090761C>ACA516679042CLCN5c.2235C>A (p.Pro745=)
c.1557C>A (p.Pro519=)
c.2025C>A (p.Pro675=)
c.2522C>A
c.*1410C>A (n.*1410C>A)
c.2085C>A (p.Pro695=)
c.2307C>A (p.Pro769=)
c.2097C>A (p.Pro699=)
c.2247C>A (p.Pro749=)
Xg.50090761C>GCA516679043CLCN5c.2235C>G (p.Pro745=)
c.1557C>G (p.Pro519=)
c.2025C>G (p.Pro675=)
c.2522C>G
c.*1410C>G (n.*1410C>G)
c.2085C>G (p.Pro695=)
c.2307C>G (p.Pro769=)
c.2097C>G (p.Pro699=)
c.2247C>G (p.Pro749=)
Xg.50090761C>TCA516679046CLCN5c.2235C>T (p.Pro745=)
c.1557C>T (p.Pro519=)
c.2025C>T (p.Pro675=)
c.2522C>T
c.*1410C>T (n.*1410C>T)
c.2085C>T (p.Pro695=)
c.2307C>T (p.Pro769=)
c.2097C>T (p.Pro699=)
c.2247C>T (p.Pro749=)
Xg.50090761_50090762delinsCACA2428770175CLCN5c.2235_2236delinsCA (p.Pro745=)
c.1557_1558delinsCA (p.Pro519=)
c.2025_2026delinsCA (p.Pro675=)
c.2522_2523delinsCA
c.*1410_*1411delinsCA (n.*1410_*1411delinsCA)
c.2085_2086delinsCA (p.Pro695=)
c.2307_2308delinsCA (p.Pro769=)
c.2097_2098delinsCA (p.Pro699=)
c.2247_2248delinsCA (p.Pro749=)
Xg.50090762delCA1139667546CLCN5c.2236del (p.Thr746LeufsTer2)
c.1558del (p.Thr520LeufsTer2)
c.2026del (p.Thr676LeufsTer2)
c.2523del
c.*1411del (n.*1411del)
c.2086del (p.Thr696LeufsTer2)
c.2308del (p.Thr770LeufsTer2)
c.2098del (p.Thr700LeufsTer2)
c.2248del (p.Thr750LeufsTer2)
 ClinVar dbSNP
Xg.50090762A>CCA413190934CLCN5c.2236A>C (p.Thr746Pro)
c.1558A>C (p.Thr520Pro)
c.2026A>C (p.Thr676Pro)
c.2523A>C
c.*1411A>C (n.*1411A>C)
c.2086A>C (p.Thr696Pro)
c.2308A>C (p.Thr770Pro)
c.2098A>C (p.Thr700Pro)
c.2248A>C (p.Thr750Pro)
Xg.50090762A>GCA413190936CLCN5c.2236A>G (p.Thr746Ala)
c.1558A>G (p.Thr520Ala)
c.2026A>G (p.Thr676Ala)
c.2523A>G
c.*1411A>G (n.*1411A>G)
c.2086A>G (p.Thr696Ala)
c.2308A>G (p.Thr770Ala)
c.2098A>G (p.Thr700Ala)
c.2248A>G (p.Thr750Ala)
Xg.50090762A>TCA413190938CLCN5c.2236A>T (p.Thr746Ser)
c.1558A>T (p.Thr520Ser)
c.2026A>T (p.Thr676Ser)
c.2523A>T
c.*1411A>T (n.*1411A>T)
c.2086A>T (p.Thr696Ser)
c.2308A>T (p.Thr770Ser)
c.2098A>T (p.Thr700Ser)
c.2248A>T (p.Thr750Ser)
Xg.50090763C>ACA413190940CLCN5c.2237C>A (p.Thr746Asn)
c.1559C>A (p.Thr520Asn)
c.2027C>A (p.Thr676Asn)
c.2524C>A
c.*1412C>A (n.*1412C>A)
c.2087C>A (p.Thr696Asn)
c.2309C>A (p.Thr770Asn)
c.2099C>A (p.Thr700Asn)
c.2249C>A (p.Thr750Asn)
Xg.50090763C=CA2428770176CLCN5c.2237C= (p.Thr746=)
c.1559C= (p.Thr520=)
c.2027C= (p.Thr676=)
c.2524C=
c.*1412C= (n.*1412C=)
c.2087C= (p.Thr696=)
c.2309C= (p.Thr770=)
c.2099C= (p.Thr700=)
c.2249C= (p.Thr750=)
Xg.50090763C>GCA413190942CLCN5c.2237C>G (p.Thr746Ser)
c.1559C>G (p.Thr520Ser)
c.2027C>G (p.Thr676Ser)
c.2524C>G
c.*1412C>G (n.*1412C>G)
c.2087C>G (p.Thr696Ser)
c.2309C>G (p.Thr770Ser)
c.2099C>G (p.Thr700Ser)
c.2249C>G (p.Thr750Ser)
Xg.50090763C>TCA10413981CLCN5c.2237C>T (p.Thr746Ile)
c.1559C>T (p.Thr520Ile)
c.2027C>T (p.Thr676Ile)
c.2524C>T
c.*1412C>T (n.*1412C>T)
c.2087C>T (p.Thr696Ile)
c.2309C>T (p.Thr770Ile)
c.2099C>T (p.Thr700Ile)
c.2249C>T (p.Thr750Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50090764T>ACA516679065CLCN5c.2238T>A (p.Thr746=)
c.1560T>A (p.Thr520=)
c.2028T>A (p.Thr676=)
c.2525T>A
c.*1413T>A (n.*1413T>A)
c.2088T>A (p.Thr696=)
c.2310T>A (p.Thr770=)
c.2100T>A (p.Thr700=)
c.2250T>A (p.Thr750=)
Xg.50090764T>CCA516679066CLCN5c.2238T>C (p.Thr746=)
c.1560T>C (p.Thr520=)
c.2028T>C (p.Thr676=)
c.2525T>C
c.*1413T>C (n.*1413T>C)
c.2088T>C (p.Thr696=)
c.2310T>C (p.Thr770=)
c.2100T>C (p.Thr700=)
c.2250T>C (p.Thr750=)
Xg.50090764T>GCA516679057CLCN5c.2238T>G (p.Thr746=)
c.1560T>G (p.Thr520=)
c.2028T>G (p.Thr676=)
c.2525T>G
c.*1413T>G (n.*1413T>G)
c.2088T>G (p.Thr696=)
c.2310T>G (p.Thr770=)
c.2100T>G (p.Thr700=)
c.2250T>G (p.Thr750=)
Xg.50090765C>ACA413190945CLCN5c.2239C>A (p.Leu747Ile)
c.1561C>A (p.Leu521Ile)
c.2029C>A (p.Leu677Ile)
c.2526C>A
c.*1414C>A (n.*1414C>A)
c.2089C>A (p.Leu697Ile)
c.2311C>A (p.Leu771Ile)
c.2101C>A (p.Leu701Ile)
c.2251C>A (p.Leu751Ile)
 gnomAD v4
Xg.50090765C=CA2428770177CLCN5c.2239C= (p.Leu747=)
c.1561C= (p.Leu521=)
c.2029C= (p.Leu677=)
c.2526C=
c.*1414C= (n.*1414C=)
c.2089C= (p.Leu697=)
c.2311C= (p.Leu771=)
c.2101C= (p.Leu701=)
c.2251C= (p.Leu751=)
Xg.50090765C>GCA413190947CLCN5c.2239C>G (p.Leu747Val)
c.1561C>G (p.Leu521Val)
c.2029C>G (p.Leu677Val)
c.2526C>G
c.*1414C>G (n.*1414C>G)
c.2089C>G (p.Leu697Val)
c.2311C>G (p.Leu771Val)
c.2101C>G (p.Leu701Val)
c.2251C>G (p.Leu751Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.50090765C>TCA516679070CLCN5c.2239C>T (p.Leu747=)
c.1561C>T (p.Leu521=)
c.2029C>T (p.Leu677=)
c.2526C>T
c.*1414C>T (n.*1414C>T)
c.2089C>T (p.Leu697=)
c.2311C>T (p.Leu771=)
c.2101C>T (p.Leu701=)
c.2251C>T (p.Leu751=)
Xg.50090766T>ACA413190952CLCN5c.2240T>A (p.Leu747Gln)
c.1562T>A (p.Leu521Gln)
c.2030T>A (p.Leu677Gln)
c.2527T>A
c.*1415T>A (n.*1415T>A)
c.2090T>A (p.Leu697Gln)
c.2312T>A (p.Leu771Gln)
c.2102T>A (p.Leu701Gln)
c.2252T>A (p.Leu751Gln)
Xg.50090766T>CCA413190954CLCN5c.2240T>C (p.Leu747Pro)
c.1562T>C (p.Leu521Pro)
c.2030T>C (p.Leu677Pro)
c.2527T>C
c.*1415T>C (n.*1415T>C)
c.2090T>C (p.Leu697Pro)
c.2312T>C (p.Leu771Pro)
c.2102T>C (p.Leu701Pro)
c.2252T>C (p.Leu751Pro)
Xg.50090766T>GCA413190950CLCN5c.2240T>G (p.Leu747Arg)
c.1562T>G (p.Leu521Arg)
c.2030T>G (p.Leu677Arg)
c.2527T>G
c.*1415T>G (n.*1415T>G)
c.2090T>G (p.Leu697Arg)
c.2312T>G (p.Leu771Arg)
c.2102T>G (p.Leu701Arg)
c.2252T>G (p.Leu751Arg)
Xg.50090767A>CCA516679076CLCN5c.2241A>C (p.Leu747=)
c.1563A>C (p.Leu521=)
c.2031A>C (p.Leu677=)
c.2528A>C
c.*1416A>C (n.*1416A>C)
c.2091A>C (p.Leu697=)
c.2313A>C (p.Leu771=)
c.2103A>C (p.Leu701=)
c.2253A>C (p.Leu751=)
Xg.50090767A>GCA516679075CLCN5c.2241A>G (p.Leu747=)
c.1563A>G (p.Leu521=)
c.2031A>G (p.Leu677=)
c.2528A>G
c.*1416A>G (n.*1416A>G)
c.2091A>G (p.Leu697=)
c.2313A>G (p.Leu771=)
c.2103A>G (p.Leu701=)
c.2253A>G (p.Leu751=)
Xg.50090767A>TCA516679074CLCN5c.2241A>T (p.Leu747=)
c.1563A>T (p.Leu521=)
c.2031A>T (p.Leu677=)
c.2528A>T
c.*1416A>T (n.*1416A>T)
c.2091A>T (p.Leu697=)
c.2313A>T (p.Leu771=)
c.2103A>T (p.Leu701=)
c.2253A>T (p.Leu751=)
Xg.50090769delCA2568325467CLCN5c.2243del (p.Lys748SerfsTer13)
c.1565del (p.Lys522SerfsTer13)
c.2033del (p.Lys678SerfsTer13)
c.2530del
c.*1418del (n.*1418del)
c.2093del (p.Lys698SerfsTer13)
c.2315del (p.Lys772SerfsTer13)
c.2105del (p.Lys702SerfsTer13)
c.2255del (p.Lys752SerfsTer13)
Xg.50090768A>CCA413190959CLCN5c.2242A>C (p.Lys748Gln)
c.1564A>C (p.Lys522Gln)
c.2032A>C (p.Lys678Gln)
c.2529A>C
c.*1417A>C (n.*1417A>C)
c.2092A>C (p.Lys698Gln)
c.2314A>C (p.Lys772Gln)
c.2104A>C (p.Lys702Gln)
c.2254A>C (p.Lys752Gln)
Xg.50090768A>GCA413190956CLCN5c.2242A>G (p.Lys748Glu)
c.1564A>G (p.Lys522Glu)
c.2032A>G (p.Lys678Glu)
c.2529A>G
c.*1417A>G (n.*1417A>G)
c.2092A>G (p.Lys698Glu)
c.2314A>G (p.Lys772Glu)
c.2104A>G (p.Lys702Glu)
c.2254A>G (p.Lys752Glu)
Xg.50090768A>TCA413190961CLCN5c.2242A>T (p.Lys748Ter)
c.1564A>T (p.Lys522Ter)
c.2032A>T (p.Lys678Ter)
c.2529A>T
c.*1417A>T (n.*1417A>T)
c.2092A>T (p.Lys698Ter)
c.2314A>T (p.Lys772Ter)
c.2104A>T (p.Lys702Ter)
c.2254A>T (p.Lys752Ter)
Xg.50090769A>CCA413190964CLCN5c.2243A>C (p.Lys748Thr)
c.1565A>C (p.Lys522Thr)
c.2033A>C (p.Lys678Thr)
c.2530A>C
c.*1418A>C (n.*1418A>C)
c.2093A>C (p.Lys698Thr)
c.2315A>C (p.Lys772Thr)
c.2105A>C (p.Lys702Thr)
c.2255A>C (p.Lys752Thr)
Xg.50090769A>GCA413190966CLCN5c.2243A>G (p.Lys748Arg)
c.1565A>G (p.Lys522Arg)
c.2033A>G (p.Lys678Arg)
c.2530A>G
c.*1418A>G (n.*1418A>G)
c.2093A>G (p.Lys698Arg)
c.2315A>G (p.Lys772Arg)
c.2105A>G (p.Lys702Arg)
c.2255A>G (p.Lys752Arg)
Xg.50090769A>TCA413190969CLCN5c.2243A>T (p.Lys748Met)
c.1565A>T (p.Lys522Met)
c.2033A>T (p.Lys678Met)
c.2530A>T
c.*1418A>T (n.*1418A>T)
c.2093A>T (p.Lys698Met)
c.2315A>T (p.Lys772Met)
c.2105A>T (p.Lys702Met)
c.2255A>T (p.Lys752Met)
Xg.50090770G>ACA516679090CLCN5c.2244G>A (p.Lys748=)
c.1566G>A (p.Lys522=)
c.2034G>A (p.Lys678=)
c.2531G>A
c.*1419G>A (n.*1419G>A)
c.2094G>A (p.Lys698=)
c.2316G>A (p.Lys772=)
c.2106G>A (p.Lys702=)
c.2256G>A (p.Lys752=)
Xg.50090770G>CCA413190972CLCN5c.2244G>C (p.Lys748Asn)
c.1566G>C (p.Lys522Asn)
c.2034G>C (p.Lys678Asn)
c.2531G>C
c.*1419G>C (n.*1419G>C)
c.2094G>C (p.Lys698Asn)
c.2316G>C (p.Lys772Asn)
c.2106G>C (p.Lys702Asn)
c.2256G>C (p.Lys752Asn)
Xg.50090770G>TCA413190974CLCN5c.2244G>T (p.Lys748Asn)
c.1566G>T (p.Lys522Asn)
c.2034G>T (p.Lys678Asn)
c.2531G>T
c.*1419G>T (n.*1419G>T)
c.2094G>T (p.Lys698Asn)
c.2316G>T (p.Lys772Asn)
c.2106G>T (p.Lys702Asn)
c.2256G>T (p.Lys752Asn)
Xg.50090771C>ACA413190976CLCN5c.2245C>A (p.Leu749Ile)
c.1567C>A (p.Leu523Ile)
c.2035C>A (p.Leu679Ile)
c.2532C>A
c.*1420C>A (n.*1420C>A)
c.2095C>A (p.Leu699Ile)
c.2317C>A (p.Leu773Ile)
c.2107C>A (p.Leu703Ile)
c.2257C>A (p.Leu753Ile)
Xg.50090771C>GCA413190978CLCN5c.2245C>G (p.Leu749Val)
c.1567C>G (p.Leu523Val)
c.2035C>G (p.Leu679Val)
c.2532C>G
c.*1420C>G (n.*1420C>G)
c.2095C>G (p.Leu699Val)
c.2317C>G (p.Leu773Val)
c.2107C>G (p.Leu703Val)
c.2257C>G (p.Leu753Val)
Xg.50090771C>TCA413190980CLCN5c.2245C>T (p.Leu749Phe)
c.1567C>T (p.Leu523Phe)
c.2035C>T (p.Leu679Phe)
c.2532C>T
c.*1420C>T (n.*1420C>T)
c.2095C>T (p.Leu699Phe)
c.2317C>T (p.Leu773Phe)
c.2107C>T (p.Leu703Phe)
c.2257C>T (p.Leu753Phe)
 gnomAD v4
Xg.50090772T>ACA413190981CLCN5c.2246T>A (p.Leu749His)
c.1568T>A (p.Leu523His)
c.2036T>A (p.Leu679His)
c.2533T>A
c.*1421T>A (n.*1421T>A)
c.2096T>A (p.Leu699His)
c.2318T>A (p.Leu773His)
c.2108T>A (p.Leu703His)
c.2258T>A (p.Leu753His)
Xg.50090772T>CCA413190982CLCN5c.2246T>C (p.Leu749Pro)
c.1568T>C (p.Leu523Pro)
c.2036T>C (p.Leu679Pro)
c.2533T>C
c.*1421T>C (n.*1421T>C)
c.2096T>C (p.Leu699Pro)
c.2318T>C (p.Leu773Pro)
c.2108T>C (p.Leu703Pro)
c.2258T>C (p.Leu753Pro)
Xg.50090772T>GCA413190983CLCN5c.2246T>G (p.Leu749Arg)
c.1568T>G (p.Leu523Arg)
c.2036T>G (p.Leu679Arg)
c.2533T>G
c.*1421T>G (n.*1421T>G)
c.2096T>G (p.Leu699Arg)
c.2318T>G (p.Leu773Arg)
c.2108T>G (p.Leu703Arg)
c.2258T>G (p.Leu753Arg)
Xg.50090773T>ACA516679117CLCN5c.2247T>A (p.Leu749=)
c.1569T>A (p.Leu523=)
c.2037T>A (p.Leu679=)
c.2534T>A
c.*1422T>A (n.*1422T>A)
c.2097T>A (p.Leu699=)
c.2319T>A (p.Leu773=)
c.2109T>A (p.Leu703=)
c.2259T>A (p.Leu753=)
Xg.50090773T>CCA516679118CLCN5c.2247T>C (p.Leu749=)
c.1569T>C (p.Leu523=)
c.2037T>C (p.Leu679=)
c.2534T>C
c.*1422T>C (n.*1422T>C)
c.2097T>C (p.Leu699=)
c.2319T>C (p.Leu773=)
c.2109T>C (p.Leu703=)
c.2259T>C (p.Leu753=)
Xg.50090773T>GCA516679121CLCN5c.2247T>G (p.Leu749=)
c.1569T>G (p.Leu523=)
c.2037T>G (p.Leu679=)
c.2534T>G
c.*1422T>G (n.*1422T>G)
c.2097T>G (p.Leu699=)
c.2319T>G (p.Leu773=)
c.2109T>G (p.Leu703=)
c.2259T>G (p.Leu753=)
Xg.50090774C>ACA516679122CLCN5c.2248C>A (p.Arg750=)
c.1570C>A (p.Arg524=)
c.2038C>A (p.Arg680=)
c.2535C>A
c.*1423C>A (n.*1423C>A)
c.2098C>A (p.Arg700=)
c.2320C>A (p.Arg774=)
c.2110C>A (p.Arg704=)
c.2260C>A (p.Arg754=)
Xg.50090774C=CA2428770178CLCN5c.2248C= (p.Arg750=)
c.1570C= (p.Arg524=)
c.2038C= (p.Arg680=)
c.2535C=
c.*1423C= (n.*1423C=)
c.2098C= (p.Arg700=)
c.2320C= (p.Arg774=)
c.2110C= (p.Arg704=)
c.2260C= (p.Arg754=)
Xg.50090774C>GCA413190985CLCN5c.2248C>G (p.Arg750Gly)
c.1570C>G (p.Arg524Gly)
c.2038C>G (p.Arg680Gly)
c.2535C>G
c.*1423C>G (n.*1423C>G)
c.2098C>G (p.Arg700Gly)
c.2320C>G (p.Arg774Gly)
c.2110C>G (p.Arg704Gly)
c.2260C>G (p.Arg754Gly)
Xg.50090774C>TCA10413982CLCN5c.2248C>T (p.Arg750Trp)
c.1570C>T (p.Arg524Trp)
c.2038C>T (p.Arg680Trp)
c.2535C>T
c.*1423C>T (n.*1423C>T)
c.2098C>T (p.Arg700Trp)
c.2320C>T (p.Arg774Trp)
c.2110C>T (p.Arg704Trp)
c.2260C>T (p.Arg754Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50090775G>ACA413190990CLCN5c.2249G>A (p.Arg750Gln)
c.1571G>A (p.Arg524Gln)
c.2039G>A (p.Arg680Gln)
c.2536G>A
c.*1424G>A (n.*1424G>A)
c.2099G>A (p.Arg700Gln)
c.2321G>A (p.Arg774Gln)
c.2111G>A (p.Arg704Gln)
c.2261G>A (p.Arg754Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.50090775G>CCA413190994CLCN5c.2249G>C (p.Arg750Pro)
c.1571G>C (p.Arg524Pro)
c.2039G>C (p.Arg680Pro)
c.2536G>C
c.*1424G>C (n.*1424G>C)
c.2099G>C (p.Arg700Pro)
c.2321G>C (p.Arg774Pro)
c.2111G>C (p.Arg704Pro)
c.2261G>C (p.Arg754Pro)
 gnomAD v4
Xg.50090775G=CA2428770179CLCN5c.2249G= (p.Arg750=)
c.1571G= (p.Arg524=)
c.2039G= (p.Arg680=)
c.2536G=
c.*1424G= (n.*1424G=)
c.2099G= (p.Arg700=)
c.2321G= (p.Arg774=)
c.2111G= (p.Arg704=)
c.2261G= (p.Arg754=)
Xg.50090775G>TCA413190992CLCN5c.2249G>T (p.Arg750Leu)
c.1571G>T (p.Arg524Leu)
c.2039G>T (p.Arg680Leu)
c.2536G>T
c.*1424G>T (n.*1424G>T)
c.2099G>T (p.Arg700Leu)
c.2321G>T (p.Arg774Leu)
c.2111G>T (p.Arg704Leu)
c.2261G>T (p.Arg754Leu)
Xg.50090776G>ACA516679133CLCN5c.2250G>A (p.Arg750=)
c.1572G>A (p.Arg524=)
c.2040G>A (p.Arg680=)
c.2537G>A
c.*1425G>A (n.*1425G>A)
c.2100G>A (p.Arg700=)
c.2322G>A (p.Arg774=)
c.2112G>A (p.Arg704=)
c.2262G>A (p.Arg754=)
Xg.50090776G>CCA516679135CLCN5c.2250G>C (p.Arg750=)
c.1572G>C (p.Arg524=)
c.2040G>C (p.Arg680=)
c.2537G>C
c.*1425G>C (n.*1425G>C)
c.2100G>C (p.Arg700=)
c.2322G>C (p.Arg774=)
c.2112G>C (p.Arg704=)
c.2262G>C (p.Arg754=)
Xg.50090776G>TCA516679134CLCN5c.2250G>T (p.Arg750=)
c.1572G>T (p.Arg524=)
c.2040G>T (p.Arg680=)
c.2537G>T
c.*1425G>T (n.*1425G>T)
c.2100G>T (p.Arg700=)
c.2322G>T (p.Arg774=)
c.2112G>T (p.Arg704=)
c.2262G>T (p.Arg754=)
Xg.50090777A=CA2428770180CLCN5c.2251A= (p.Asn751=)
c.1573A= (p.Asn525=)
c.2041A= (p.Asn681=)
c.2538A=
c.*1426A= (n.*1426A=)
c.2101A= (p.Asn701=)
c.2323A= (p.Asn775=)
c.2113A= (p.Asn705=)
c.2263A= (p.Asn755=)
Xg.50090777A>CCA413190995CLCN5c.2251A>C (p.Asn751His)
c.1573A>C (p.Asn525His)
c.2041A>C (p.Asn681His)
c.2538A>C
c.*1426A>C (n.*1426A>C)
c.2101A>C (p.Asn701His)
c.2323A>C (p.Asn775His)
c.2113A>C (p.Asn705His)
c.2263A>C (p.Asn755His)
Xg.50090777A>GCA329782612CLCN5c.2251A>G (p.Asn751Asp)
c.1573A>G (p.Asn525Asp)
c.2041A>G (p.Asn681Asp)
c.2538A>G
c.*1426A>G (n.*1426A>G)
c.2101A>G (p.Asn701Asp)
c.2323A>G (p.Asn775Asp)
c.2113A>G (p.Asn705Asp)
c.2263A>G (p.Asn755Asp)
 dbSNP gnomAD v4
Xg.50090777A>TCA413190997CLCN5c.2251A>T (p.Asn751Tyr)
c.1573A>T (p.Asn525Tyr)
c.2041A>T (p.Asn681Tyr)
c.2538A>T
c.*1426A>T (n.*1426A>T)
c.2101A>T (p.Asn701Tyr)
c.2323A>T (p.Asn775Tyr)
c.2113A>T (p.Asn705Tyr)
c.2263A>T (p.Asn755Tyr)
Xg.50090777_50090778dupCA2820855631CLCN5c.2251_2252dup (p.Asn751LysfsTer11)
c.1573_1574dup (p.Asn525LysfsTer11)
c.2041_2042dup (p.Asn681LysfsTer11)
c.2538_2539dup
c.*1426_*1427dup (n.*1426_*1427dup)
c.2101_2102dup (p.Asn701LysfsTer11)
c.2323_2324dup (p.Asn775LysfsTer11)
c.2113_2114dup (p.Asn705LysfsTer11)
c.2263_2264dup (p.Asn755LysfsTer11)
Xg.50090778A=CA2428770181CLCN5c.2252A= (p.Asn751=)
c.1574A= (p.Asn525=)
c.2042A= (p.Asn681=)
c.2539A=
c.*1427A= (n.*1427A=)
c.2102A= (p.Asn701=)
c.2324A= (p.Asn775=)
c.2114A= (p.Asn705=)
c.2264A= (p.Asn755=)
Xg.50090778A>CCA413190998CLCN5c.2252A>C (p.Asn751Thr)
c.1574A>C (p.Asn525Thr)
c.2042A>C (p.Asn681Thr)
c.2539A>C
c.*1427A>C (n.*1427A>C)
c.2102A>C (p.Asn701Thr)
c.2324A>C (p.Asn775Thr)
c.2114A>C (p.Asn705Thr)
c.2264A>C (p.Asn755Thr)
Xg.50090778A>GCA413190999CLCN5c.2252A>G (p.Asn751Ser)
c.1574A>G (p.Asn525Ser)
c.2042A>G (p.Asn681Ser)
c.2539A>G
c.*1427A>G (n.*1427A>G)
c.2102A>G (p.Asn701Ser)
c.2324A>G (p.Asn775Ser)
c.2114A>G (p.Asn705Ser)
c.2264A>G (p.Asn755Ser)
 dbSNP
Xg.50090778A>TCA413191000CLCN5c.2252A>T (p.Asn751Ile)
c.1574A>T (p.Asn525Ile)
c.2042A>T (p.Asn681Ile)
c.2539A>T
c.*1427A>T (n.*1427A>T)
c.2102A>T (p.Asn701Ile)
c.2324A>T (p.Asn775Ile)
c.2114A>T (p.Asn705Ile)
c.2264A>T (p.Asn755Ile)
Xg.50090779C>ACA413191002CLCN5c.2253C>A (p.Asn751Lys)
c.1575C>A (p.Asn525Lys)
c.2043C>A (p.Asn681Lys)
c.2540C>A
c.*1428C>A (n.*1428C>A)
c.2103C>A (p.Asn701Lys)
c.2325C>A (p.Asn775Lys)
c.2115C>A (p.Asn705Lys)
c.2265C>A (p.Asn755Lys)
Xg.50090779C>GCA413191004CLCN5c.2253C>G (p.Asn751Lys)
c.1575C>G (p.Asn525Lys)
c.2043C>G (p.Asn681Lys)
c.2540C>G
c.*1428C>G (n.*1428C>G)
c.2103C>G (p.Asn701Lys)
c.2325C>G (p.Asn775Lys)
c.2115C>G (p.Asn705Lys)
c.2265C>G (p.Asn755Lys)
Xg.50090779C>TCA516679151CLCN5c.2253C>T (p.Asn751=)
c.1575C>T (p.Asn525=)
c.2043C>T (p.Asn681=)
c.2540C>T
c.*1428C>T (n.*1428C>T)
c.2103C>T (p.Asn701=)
c.2325C>T (p.Asn775=)
c.2115C>T (p.Asn705=)
c.2265C>T (p.Asn755=)
Xg.50090780A>CCA413191006CLCN5c.2254A>C (p.Ile752Leu)
c.1576A>C (p.Ile526Leu)
c.2044A>C (p.Ile682Leu)
c.2541A>C
c.*1429A>C (n.*1429A>C)
c.2104A>C (p.Ile702Leu)
c.2326A>C (p.Ile776Leu)
c.2116A>C (p.Ile706Leu)
c.2266A>C (p.Ile756Leu)
Xg.50090780A>GCA413191008CLCN5c.2254A>G (p.Ile752Val)
c.1576A>G (p.Ile526Val)
c.2044A>G (p.Ile682Val)
c.2541A>G
c.*1429A>G (n.*1429A>G)
c.2104A>G (p.Ile702Val)
c.2326A>G (p.Ile776Val)
c.2116A>G (p.Ile706Val)
c.2266A>G (p.Ile756Val)
Xg.50090780A>TCA413191010CLCN5c.2254A>T (p.Ile752Phe)
c.1576A>T (p.Ile526Phe)
c.2044A>T (p.Ile682Phe)
c.2541A>T
c.*1429A>T (n.*1429A>T)
c.2104A>T (p.Ile702Phe)
c.2326A>T (p.Ile776Phe)
c.2116A>T (p.Ile706Phe)
c.2266A>T (p.Ile756Phe)
Xg.50090781T>ACA413191018CLCN5c.2255T>A (p.Ile752Asn)
c.1577T>A (p.Ile526Asn)
c.2045T>A (p.Ile682Asn)
c.2542T>A
c.*1430T>A (n.*1430T>A)
c.2105T>A (p.Ile702Asn)
c.2327T>A (p.Ile776Asn)
c.2117T>A (p.Ile706Asn)
c.2267T>A (p.Ile756Asn)
Xg.50090781T>CCA413191016CLCN5c.2255T>C (p.Ile752Thr)
c.1577T>C (p.Ile526Thr)
c.2045T>C (p.Ile682Thr)
c.2542T>C
c.*1430T>C (n.*1430T>C)
c.2105T>C (p.Ile702Thr)
c.2327T>C (p.Ile776Thr)
c.2117T>C (p.Ile706Thr)
c.2267T>C (p.Ile756Thr)
Xg.50090781T>GCA413191014CLCN5c.2255T>G (p.Ile752Ser)
c.1577T>G (p.Ile526Ser)
c.2045T>G (p.Ile682Ser)
c.2542T>G
c.*1430T>G (n.*1430T>G)
c.2105T>G (p.Ile702Ser)
c.2327T>G (p.Ile776Ser)
c.2117T>G (p.Ile706Ser)
c.2267T>G (p.Ile756Ser)
Xg.50090782C>ACA516679162CLCN5c.2256C>A (p.Ile752=)
c.1578C>A (p.Ile526=)
c.2046C>A (p.Ile682=)
c.2543C>A
c.*1431C>A (n.*1431C>A)
c.2106C>A (p.Ile702=)
c.2328C>A (p.Ile776=)
c.2118C>A (p.Ile706=)
c.2268C>A (p.Ile756=)
Xg.50090782C=CA2428770182CLCN5c.2256C= (p.Ile752=)
c.1578C= (p.Ile526=)
c.2046C= (p.Ile682=)
c.2543C=
c.*1431C= (n.*1431C=)
c.2106C= (p.Ile702=)
c.2328C= (p.Ile776=)
c.2118C= (p.Ile706=)
c.2268C= (p.Ile756=)
Xg.50090782C>GCA413191019CLCN5c.2256C>G (p.Ile752Met)
c.1578C>G (p.Ile526Met)
c.2046C>G (p.Ile682Met)
c.2543C>G
c.*1431C>G (n.*1431C>G)
c.2106C>G (p.Ile702Met)
c.2328C>G (p.Ile776Met)
c.2118C>G (p.Ile706Met)
c.2268C>G (p.Ile756Met)
Xg.50090782C>TCA516679173CLCN5c.2256C>T (p.Ile752=)
c.1578C>T (p.Ile526=)
c.2046C>T (p.Ile682=)
c.2543C>T
c.*1431C>T (n.*1431C>T)
c.2106C>T (p.Ile702=)
c.2328C>T (p.Ile776=)
c.2118C>T (p.Ile706=)
c.2268C>T (p.Ile756=)
 dbSNP gnomAD v4
Xg.50090783C>ACA413191022CLCN5c.2257C>A (p.Leu753Ile)
c.1579C>A (p.Leu527Ile)
c.2047C>A (p.Leu683Ile)
c.2544C>A
c.*1432C>A (n.*1432C>A)
c.2107C>A (p.Leu703Ile)
c.2329C>A (p.Leu777Ile)
c.2119C>A (p.Leu707Ile)
c.2269C>A (p.Leu757Ile)
Xg.50090783C>GCA413191024CLCN5c.2257C>G (p.Leu753Val)
c.1579C>G (p.Leu527Val)
c.2047C>G (p.Leu683Val)
c.2544C>G
c.*1432C>G (n.*1432C>G)
c.2107C>G (p.Leu703Val)
c.2329C>G (p.Leu777Val)
c.2119C>G (p.Leu707Val)
c.2269C>G (p.Leu757Val)
Xg.50090783C>TCA413191026CLCN5c.2257C>T (p.Leu753Phe)
c.1579C>T (p.Leu527Phe)
c.2047C>T (p.Leu683Phe)
c.2544C>T
c.*1432C>T (n.*1432C>T)
c.2107C>T (p.Leu703Phe)
c.2329C>T (p.Leu777Phe)
c.2119C>T (p.Leu707Phe)
c.2269C>T (p.Leu757Phe)
Xg.50090783_50090784insACCA2820855632CLCN5c.2257_2258insAC (p.Leu753HisfsTer9)
c.1579_1580insAC (p.Leu527HisfsTer9)
c.2047_2048insAC (p.Leu683HisfsTer9)
c.2544_2545insAC
c.*1432_*1433insAC (n.*1432_*1433insAC)
c.2107_2108insAC (p.Leu703HisfsTer9)
c.2329_2330insAC (p.Leu777HisfsTer9)
c.2119_2120insAC (p.Leu707HisfsTer9)
c.2269_2270insAC (p.Leu757HisfsTer9)
Xg.50090784T>ACA413191029CLCN5c.2258T>A (p.Leu753His)
c.1580T>A (p.Leu527His)
c.2048T>A (p.Leu683His)
c.2545T>A
c.*1433T>A (n.*1433T>A)
c.2108T>A (p.Leu703His)
c.2330T>A (p.Leu777His)
c.2120T>A (p.Leu707His)
c.2270T>A (p.Leu757His)
Xg.50090784T>CCA413191031CLCN5c.2258T>C (p.Leu753Pro)
c.1580T>C (p.Leu527Pro)
c.2048T>C (p.Leu683Pro)
c.2545T>C
c.*1433T>C (n.*1433T>C)
c.2108T>C (p.Leu703Pro)
c.2330T>C (p.Leu777Pro)
c.2120T>C (p.Leu707Pro)
c.2270T>C (p.Leu757Pro)
Xg.50090784T>GCA413191033CLCN5c.2258T>G (p.Leu753Arg)
c.1580T>G (p.Leu527Arg)
c.2048T>G (p.Leu683Arg)
c.2545T>G
c.*1433T>G (n.*1433T>G)
c.2108T>G (p.Leu703Arg)
c.2330T>G (p.Leu777Arg)
c.2120T>G (p.Leu707Arg)
c.2270T>G (p.Leu757Arg)
Xg.50090784_50090785insACA2820855633CLCN5c.2258_2259insA (p.Asp754ArgfsTer9)
c.1580_1581insA (p.Asp528ArgfsTer9)
c.2048_2049insA (p.Asp684ArgfsTer9)
c.2545_2546insA
c.*1433_*1434insA (n.*1433_*1434insA)
c.2108_2109insA (p.Asp704ArgfsTer9)
c.2330_2331insA (p.Asp778ArgfsTer9)
c.2120_2121insA (p.Asp708ArgfsTer9)
c.2270_2271insA (p.Asp758ArgfsTer9)
Xg.50090785C>ACA516679177CLCN5c.2259C>A (p.Leu753=)
c.1581C>A (p.Leu527=)
c.2049C>A (p.Leu683=)
c.2546C>A
c.*1434C>A (n.*1434C>A)
c.2109C>A (p.Leu703=)
c.2331C>A (p.Leu777=)
c.2121C>A (p.Leu707=)
c.2271C>A (p.Leu757=)
Xg.50090785C=CA2428770183CLCN5c.2259C= (p.Leu753=)
c.1581C= (p.Leu527=)
c.2049C= (p.Leu683=)
c.2546C=
c.*1434C= (n.*1434C=)
c.2109C= (p.Leu703=)
c.2331C= (p.Leu777=)
c.2121C= (p.Leu707=)
c.2271C= (p.Leu757=)
Xg.50090785C>GCA516679178CLCN5c.2259C>G (p.Leu753=)
c.1581C>G (p.Leu527=)
c.2049C>G (p.Leu683=)
c.2546C>G
c.*1434C>G (n.*1434C>G)
c.2109C>G (p.Leu703=)
c.2331C>G (p.Leu777=)
c.2121C>G (p.Leu707=)
c.2271C>G (p.Leu757=)
Xg.50090785C>TCA516679179CLCN5c.2259C>T (p.Leu753=)
c.1581C>T (p.Leu527=)
c.2049C>T (p.Leu683=)
c.2546C>T
c.*1434C>T (n.*1434C>T)
c.2109C>T (p.Leu703=)
c.2331C>T (p.Leu777=)
c.2121C>T (p.Leu707=)
c.2271C>T (p.Leu757=)
 dbSNP gnomAD v3 gnomAD v4
Xg.50090786G>ACA10413983CLCN5c.2260G>A (p.Asp754Asn)
c.1582G>A (p.Asp528Asn)
c.2050G>A (p.Asp684Asn)
c.2547G>A
c.*1435G>A (n.*1435G>A)
c.2110G>A (p.Asp704Asn)
c.2332G>A (p.Asp778Asn)
c.2122G>A (p.Asp708Asn)
c.2272G>A (p.Asp758Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50090786G>CCA413191035CLCN5c.2260G>C (p.Asp754His)
c.1582G>C (p.Asp528His)
c.2050G>C (p.Asp684His)
c.2547G>C
c.*1435G>C (n.*1435G>C)
c.2110G>C (p.Asp704His)
c.2332G>C (p.Asp778His)
c.2122G>C (p.Asp708His)
c.2272G>C (p.Asp758His)
Xg.50090786G=CA2428770184CLCN5c.2260G= (p.Asp754=)
c.1582G= (p.Asp528=)
c.2050G= (p.Asp684=)
c.2547G=
c.*1435G= (n.*1435G=)
c.2110G= (p.Asp704=)
c.2332G= (p.Asp778=)
c.2122G= (p.Asp708=)
c.2272G= (p.Asp758=)
Xg.50090786G>TCA413191037CLCN5c.2260G>T (p.Asp754Tyr)
c.1582G>T (p.Asp528Tyr)
c.2050G>T (p.Asp684Tyr)
c.2547G>T
c.*1435G>T (n.*1435G>T)
c.2110G>T (p.Asp704Tyr)
c.2332G>T (p.Asp778Tyr)
c.2122G>T (p.Asp708Tyr)
c.2272G>T (p.Asp758Tyr)
Xg.50090787A=CA2428770185CLCN5c.2261A= (p.Asp754=)
c.1583A= (p.Asp528=)
c.2051A= (p.Asp684=)
c.2548A=
c.*1436A= (n.*1436A=)
c.2111A= (p.Asp704=)
c.2333A= (p.Asp778=)
c.2123A= (p.Asp708=)
c.2273A= (p.Asp758=)
Xg.50090787A>CCA413191042CLCN5c.2261A>C (p.Asp754Ala)
c.1583A>C (p.Asp528Ala)
c.2051A>C (p.Asp684Ala)
c.2548A>C
c.*1436A>C (n.*1436A>C)
c.2111A>C (p.Asp704Ala)
c.2333A>C (p.Asp778Ala)
c.2123A>C (p.Asp708Ala)
c.2273A>C (p.Asp758Ala)
Xg.50090787A>GCA10413984CLCN5c.2261A>G (p.Asp754Gly)
c.1583A>G (p.Asp528Gly)
c.2051A>G (p.Asp684Gly)
c.2548A>G
c.*1436A>G (n.*1436A>G)
c.2111A>G (p.Asp704Gly)
c.2333A>G (p.Asp778Gly)
c.2123A>G (p.Asp708Gly)
c.2273A>G (p.Asp758Gly)
 ClinVar dbSNP ExAC
Xg.50090787A>TCA413191045CLCN5c.2261A>T (p.Asp754Val)
c.1583A>T (p.Asp528Val)
c.2051A>T (p.Asp684Val)
c.2548A>T
c.*1436A>T (n.*1436A>T)
c.2111A>T (p.Asp704Val)
c.2333A>T (p.Asp778Val)
c.2123A>T (p.Asp708Val)
c.2273A>T (p.Asp758Val)
Xg.50090788T>ACA413191048CLCN5c.2262T>A (p.Asp754Glu)
c.1584T>A (p.Asp528Glu)
c.2052T>A (p.Asp684Glu)
c.2549T>A
c.*1437T>A (n.*1437T>A)
c.2112T>A (p.Asp704Glu)
c.2334T>A (p.Asp778Glu)
c.2124T>A (p.Asp708Glu)
c.2274T>A (p.Asp758Glu)
Xg.50090788T>CCA516679189CLCN5c.2262T>C (p.Asp754=)
c.1584T>C (p.Asp528=)
c.2052T>C (p.Asp684=)
c.2549T>C
c.*1437T>C (n.*1437T>C)
c.2112T>C (p.Asp704=)
c.2334T>C (p.Asp778=)
c.2124T>C (p.Asp708=)
c.2274T>C (p.Asp758=)
Xg.50090788T>GCA413191050CLCN5c.2262T>G (p.Asp754Glu)
c.1584T>G (p.Asp528Glu)
c.2052T>G (p.Asp684Glu)
c.2549T>G
c.*1437T>G (n.*1437T>G)
c.2112T>G (p.Asp704Glu)
c.2334T>G (p.Asp778Glu)
c.2124T>G (p.Asp708Glu)
c.2274T>G (p.Asp758Glu)
Xg.50090789C>ACA413191053CLCN5c.2263C>A (p.Leu755Ile)
c.1585C>A (p.Leu529Ile)
c.2053C>A (p.Leu685Ile)
c.2550C>A
c.*1438C>A (n.*1438C>A)
c.2113C>A (p.Leu705Ile)
c.2335C>A (p.Leu779Ile)
c.2125C>A (p.Leu709Ile)
c.2275C>A (p.Leu759Ile)
Xg.50090789C>GCA413191056CLCN5c.2263C>G (p.Leu755Val)
c.1585C>G (p.Leu529Val)
c.2053C>G (p.Leu685Val)
c.2550C>G
c.*1438C>G (n.*1438C>G)
c.2113C>G (p.Leu705Val)
c.2335C>G (p.Leu779Val)
c.2125C>G (p.Leu709Val)
c.2275C>G (p.Leu759Val)
Xg.50090789C>TCA413191055CLCN5c.2263C>T (p.Leu755Phe)
c.1585C>T (p.Leu529Phe)
c.2053C>T (p.Leu685Phe)
c.2550C>T
c.*1438C>T (n.*1438C>T)
c.2113C>T (p.Leu705Phe)
c.2335C>T (p.Leu779Phe)
c.2125C>T (p.Leu709Phe)
c.2275C>T (p.Leu759Phe)
Xg.50090790T>ACA413191058CLCN5c.2264T>A (p.Leu755His)
c.1586T>A (p.Leu529His)
c.2054T>A (p.Leu685His)
c.2551T>A
c.*1439T>A (n.*1439T>A)
c.2114T>A (p.Leu705His)
c.2336T>A (p.Leu779His)
c.2126T>A (p.Leu709His)
c.2276T>A (p.Leu759His)
Xg.50090790T>CCA413191061CLCN5c.2264T>C (p.Leu755Pro)
c.1586T>C (p.Leu529Pro)
c.2054T>C (p.Leu685Pro)
c.2551T>C
c.*1439T>C (n.*1439T>C)
c.2114T>C (p.Leu705Pro)
c.2336T>C (p.Leu779Pro)
c.2126T>C (p.Leu709Pro)
c.2276T>C (p.Leu759Pro)
Xg.50090790T>GCA413191063CLCN5c.2264T>G (p.Leu755Arg)
c.1586T>G (p.Leu529Arg)
c.2054T>G (p.Leu685Arg)
c.2551T>G
c.*1439T>G (n.*1439T>G)
c.2114T>G (p.Leu705Arg)
c.2336T>G (p.Leu779Arg)
c.2126T>G (p.Leu709Arg)
c.2276T>G (p.Leu759Arg)
Xg.50090791_50090792insCATGGGTGTAAGGTCCA2820855634CLCN5c.2265_2266insCATGGGTGTAAGGTC (p.Leu755_Ser756insHisGlyCysLysVal)
c.1587_1588insCATGGGTGTAAGGTC (p.Leu529_Ser530insHisGlyCysLysVal)
c.2055_2056insCATGGGTGTAAGGTC (p.Leu685_Ser686insHisGlyCysLysVal)
c.2552_2553insCATGGGTGTAAGGTC
c.*1440_*1441insCATGGGTGTAAGGTC (n.*1440_*1441insCATGGGTGTAAGGTC)
c.2115_2116insCATGGGTGTAAGGTC (p.Leu705_Ser706insHisGlyCysLysVal)
c.2337_2338insCATGGGTGTAAGGTC (p.Leu779_Ser780insHisGlyCysLysVal)
c.2127_2128insCATGGGTGTAAGGTC (p.Leu709_Ser710insHisGlyCysLysVal)
c.2277_2278insCATGGGTGTAAGGTC (p.Leu759_Ser760insHisGlyCysLysVal)
Xg.50090791C>ACA516679197CLCN5c.2265C>A (p.Leu755=)
c.1587C>A (p.Leu529=)
c.2055C>A (p.Leu685=)
c.2552C>A
c.*1440C>A (n.*1440C>A)
c.2115C>A (p.Leu705=)
c.2337C>A (p.Leu779=)
c.2127C>A (p.Leu709=)
c.2277C>A (p.Leu759=)
Xg.50090791C>GCA516679198CLCN5c.2265C>G (p.Leu755=)
c.1587C>G (p.Leu529=)
c.2055C>G (p.Leu685=)
c.2552C>G
c.*1440C>G (n.*1440C>G)
c.2115C>G (p.Leu705=)
c.2337C>G (p.Leu779=)
c.2127C>G (p.Leu709=)
c.2277C>G (p.Leu759=)
Xg.50090791C>TCA516679199CLCN5c.2265C>T (p.Leu755=)
c.1587C>T (p.Leu529=)
c.2055C>T (p.Leu685=)
c.2552C>T
c.*1440C>T (n.*1440C>T)
c.2115C>T (p.Leu705=)
c.2337C>T (p.Leu779=)
c.2127C>T (p.Leu709=)
c.2277C>T (p.Leu759=)
Xg.50090792A=CA2428770186CLCN5c.2266A= (p.Ser756=)
c.1588A= (p.Ser530=)
c.2056A= (p.Ser686=)
c.2553A=
c.*1441A= (n.*1441A=)
c.2116A= (p.Ser706=)
c.2338A= (p.Ser780=)
c.2128A= (p.Ser710=)
c.2278A= (p.Ser760=)
Xg.50090792A>CCA413191066CLCN5c.2266A>C (p.Ser756Arg)
c.1588A>C (p.Ser530Arg)
c.2056A>C (p.Ser686Arg)
c.2553A>C
c.*1441A>C (n.*1441A>C)
c.2116A>C (p.Ser706Arg)
c.2338A>C (p.Ser780Arg)
c.2128A>C (p.Ser710Arg)
c.2278A>C (p.Ser760Arg)
 gnomAD v4
Xg.50090792A>GCA413191067CLCN5c.2266A>G (p.Ser756Gly)
c.1588A>G (p.Ser530Gly)
c.2056A>G (p.Ser686Gly)
c.2553A>G
c.*1441A>G (n.*1441A>G)
c.2116A>G (p.Ser706Gly)
c.2338A>G (p.Ser780Gly)
c.2128A>G (p.Ser710Gly)
c.2278A>G (p.Ser760Gly)
 dbSNP gnomAD v2 gnomAD v4
Xg.50090792A>TCA413191069CLCN5c.2266A>T (p.Ser756Cys)
c.1588A>T (p.Ser530Cys)
c.2056A>T (p.Ser686Cys)
c.2553A>T
c.*1441A>T (n.*1441A>T)
c.2116A>T (p.Ser706Cys)
c.2338A>T (p.Ser780Cys)
c.2128A>T (p.Ser710Cys)
c.2278A>T (p.Ser760Cys)
Xg.50090793delCA2695233723CLCN5c.2267del (p.Ser756ThrfsTer5)
c.1589del (p.Ser530ThrfsTer5)
c.2057del (p.Ser686ThrfsTer5)
c.2554del
c.*1442del (n.*1442del)
c.2117del (p.Ser706ThrfsTer5)
c.2339del (p.Ser780ThrfsTer5)
c.2129del (p.Ser710ThrfsTer5)
c.2279del (p.Ser760ThrfsTer5)
Xg.50090793G>ACA413191071CLCN5c.2267G>A (p.Ser756Asn)
c.1589G>A (p.Ser530Asn)
c.2057G>A (p.Ser686Asn)
c.2554G>A
c.*1442G>A (n.*1442G>A)
c.2117G>A (p.Ser706Asn)
c.2339G>A (p.Ser780Asn)
c.2129G>A (p.Ser710Asn)
c.2279G>A (p.Ser760Asn)
Xg.50090793G>CCA413191073CLCN5c.2267G>C (p.Ser756Thr)
c.1589G>C (p.Ser530Thr)
c.2057G>C (p.Ser686Thr)
c.2554G>C
c.*1442G>C (n.*1442G>C)
c.2117G>C (p.Ser706Thr)
c.2339G>C (p.Ser780Thr)
c.2129G>C (p.Ser710Thr)
c.2279G>C (p.Ser760Thr)
Xg.50090793G>TCA413191075CLCN5c.2267G>T (p.Ser756Ile)
c.1589G>T (p.Ser530Ile)
c.2057G>T (p.Ser686Ile)
c.2554G>T
c.*1442G>T (n.*1442G>T)
c.2117G>T (p.Ser706Ile)
c.2339G>T (p.Ser780Ile)
c.2129G>T (p.Ser710Ile)
c.2279G>T (p.Ser760Ile)
Xg.50090794C>ACA413191078CLCN5c.2268C>A (p.Ser756Arg)
c.1590C>A (p.Ser530Arg)
c.2058C>A (p.Ser686Arg)
c.2555C>A
c.*1443C>A (n.*1443C>A)
c.2118C>A (p.Ser706Arg)
c.2340C>A (p.Ser780Arg)
c.2130C>A (p.Ser710Arg)
c.2280C>A (p.Ser760Arg)
Xg.50090794C>GCA413191080CLCN5c.2268C>G (p.Ser756Arg)
c.1590C>G (p.Ser530Arg)
c.2058C>G (p.Ser686Arg)
c.2555C>G
c.*1443C>G (n.*1443C>G)
c.2118C>G (p.Ser706Arg)
c.2340C>G (p.Ser780Arg)
c.2130C>G (p.Ser710Arg)
c.2280C>G (p.Ser760Arg)
Xg.50090794C>TCA516679207CLCN5c.2268C>T (p.Ser756=)
c.1590C>T (p.Ser530=)
c.2058C>T (p.Ser686=)
c.2555C>T
c.*1443C>T (n.*1443C>T)
c.2118C>T (p.Ser706=)
c.2340C>T (p.Ser780=)
c.2130C>T (p.Ser710=)
c.2280C>T (p.Ser760=)
Xg.50090797delCA2695233724CLCN5c.2271del (p.Phe758SerfsTer3)
c.1593del (p.Phe532SerfsTer3)
c.2061del (p.Phe688SerfsTer3)
c.2558del
c.*1446del (n.*1446del)
c.2121del (p.Phe708SerfsTer3)
c.2343del (p.Phe782SerfsTer3)
c.2133del (p.Phe712SerfsTer3)
c.2283del (p.Phe762SerfsTer3)
Xg.50090794_50090798delCA2820855635CLCN5c.2268_2272del (p.Pro757HisfsTer4)
c.1590_1594del (p.Pro531HisfsTer4)
c.2058_2062del (p.Pro687HisfsTer4)
c.2555_2559del
c.*1443_*1447del (n.*1443_*1447del)
c.2118_2122del (p.Pro707HisfsTer4)
c.2340_2344del (p.Pro781HisfsTer4)
c.2130_2134del (p.Pro711HisfsTer4)
c.2280_2284del (p.Pro761HisfsTer4)
Xg.50090795C>ACA413191085CLCN5c.2269C>A (p.Pro757Thr)
c.1591C>A (p.Pro531Thr)
c.2059C>A (p.Pro687Thr)
c.2556C>A
c.*1444C>A (n.*1444C>A)
c.2119C>A (p.Pro707Thr)
c.2341C>A (p.Pro781Thr)
c.2131C>A (p.Pro711Thr)
c.2281C>A (p.Pro761Thr)
Xg.50090795C>GCA413191087CLCN5c.2269C>G (p.Pro757Ala)
c.1591C>G (p.Pro531Ala)
c.2059C>G (p.Pro687Ala)
c.2556C>G
c.*1444C>G (n.*1444C>G)
c.2119C>G (p.Pro707Ala)
c.2341C>G (p.Pro781Ala)
c.2131C>G (p.Pro711Ala)
c.2281C>G (p.Pro761Ala)
Xg.50090795C>TCA413191083CLCN5c.2269C>T (p.Pro757Ser)
c.1591C>T (p.Pro531Ser)
c.2059C>T (p.Pro687Ser)
c.2556C>T
c.*1444C>T (n.*1444C>T)
c.2119C>T (p.Pro707Ser)
c.2341C>T (p.Pro781Ser)
c.2131C>T (p.Pro711Ser)
c.2281C>T (p.Pro761Ser)
 COSMIC COSMIC
Xg.50090796C>ACA329782613CLCN5c.2270C>A (p.Pro757His)
c.1592C>A (p.Pro531His)
c.2060C>A (p.Pro687His)
c.2557C>A
c.*1445C>A (n.*1445C>A)
c.2120C>A (p.Pro707His)
c.2342C>A (p.Pro781His)
c.2132C>A (p.Pro711His)
c.2282C>A (p.Pro761His)
 dbSNP
Xg.50090796C=CA2428770187CLCN5c.2270C= (p.Pro757=)
c.1592C= (p.Pro531=)
c.2060C= (p.Pro687=)
c.2557C=
c.*1445C= (n.*1445C=)
c.2120C= (p.Pro707=)
c.2342C= (p.Pro781=)
c.2132C= (p.Pro711=)
c.2282C= (p.Pro761=)
Xg.50090796C>GCA413191090CLCN5c.2270C>G (p.Pro757Arg)
c.1592C>G (p.Pro531Arg)
c.2060C>G (p.Pro687Arg)
c.2557C>G
c.*1445C>G (n.*1445C>G)
c.2120C>G (p.Pro707Arg)
c.2342C>G (p.Pro781Arg)
c.2132C>G (p.Pro711Arg)
c.2282C>G (p.Pro761Arg)
Xg.50090796C>TCA413191093CLCN5c.2270C>T (p.Pro757Leu)
c.1592C>T (p.Pro531Leu)
c.2060C>T (p.Pro687Leu)
c.2557C>T
c.*1445C>T (n.*1445C>T)
c.2120C>T (p.Pro707Leu)
c.2342C>T (p.Pro781Leu)
c.2132C>T (p.Pro711Leu)
c.2282C>T (p.Pro761Leu)
 gnomAD v4
Xg.50090797C>ACA516679221CLCN5c.2271C>A (p.Pro757=)
c.1593C>A (p.Pro531=)
c.2061C>A (p.Pro687=)
c.2558C>A
c.*1446C>A (n.*1446C>A)
c.2121C>A (p.Pro707=)
c.2343C>A (p.Pro781=)
c.2133C>A (p.Pro711=)
c.2283C>A (p.Pro761=)
Xg.50090797C>GCA516679227CLCN5c.2271C>G (p.Pro757=)
c.1593C>G (p.Pro531=)
c.2061C>G (p.Pro687=)
c.2558C>G
c.*1446C>G (n.*1446C>G)
c.2121C>G (p.Pro707=)
c.2343C>G (p.Pro781=)
c.2133C>G (p.Pro711=)
c.2283C>G (p.Pro761=)
Xg.50090797C>TCA516679224CLCN5c.2271C>T (p.Pro757=)
c.1593C>T (p.Pro531=)
c.2061C>T (p.Pro687=)
c.2558C>T
c.*1446C>T (n.*1446C>T)
c.2121C>T (p.Pro707=)
c.2343C>T (p.Pro781=)
c.2133C>T (p.Pro711=)
c.2283C>T (p.Pro761=)
Xg.50090798T>ACA413191096CLCN5c.2272T>A (p.Phe758Ile)
c.1594T>A (p.Phe532Ile)
c.2062T>A (p.Phe688Ile)
c.2559T>A
c.*1447T>A (n.*1447T>A)
c.2122T>A (p.Phe708Ile)
c.2344T>A (p.Phe782Ile)
c.2134T>A (p.Phe712Ile)
c.2284T>A (p.Phe762Ile)
Xg.50090798T>CCA413191098CLCN5c.2272T>C (p.Phe758Leu)
c.1594T>C (p.Phe532Leu)
c.2062T>C (p.Phe688Leu)
c.2559T>C
c.*1447T>C (n.*1447T>C)
c.2122T>C (p.Phe708Leu)
c.2344T>C (p.Phe782Leu)
c.2134T>C (p.Phe712Leu)
c.2284T>C (p.Phe762Leu)
Xg.50090798T>GCA413191100CLCN5c.2272T>G (p.Phe758Val)
c.1594T>G (p.Phe532Val)
c.2062T>G (p.Phe688Val)
c.2559T>G
c.*1447T>G (n.*1447T>G)
c.2122T>G (p.Phe708Val)
c.2344T>G (p.Phe782Val)
c.2134T>G (p.Phe712Val)
c.2284T>G (p.Phe762Val)
Xg.50090799T>ACA413191108CLCN5c.2273T>A (p.Phe758Tyr)
c.1595T>A (p.Phe532Tyr)
c.2063T>A (p.Phe688Tyr)
c.2560T>A
c.*1448T>A (n.*1448T>A)
c.2123T>A (p.Phe708Tyr)
c.2345T>A (p.Phe782Tyr)
c.2135T>A (p.Phe712Tyr)
c.2285T>A (p.Phe762Tyr)
Xg.50090799T>CCA413191104CLCN5c.2273T>C (p.Phe758Ser)
c.1595T>C (p.Phe532Ser)
c.2063T>C (p.Phe688Ser)
c.2560T>C
c.*1448T>C (n.*1448T>C)
c.2123T>C (p.Phe708Ser)
c.2345T>C (p.Phe782Ser)
c.2135T>C (p.Phe712Ser)
c.2285T>C (p.Phe762Ser)
Xg.50090799T>GCA413191106CLCN5c.2273T>G (p.Phe758Cys)
c.1595T>G (p.Phe532Cys)
c.2063T>G (p.Phe688Cys)
c.2560T>G
c.*1448T>G (n.*1448T>G)
c.2123T>G (p.Phe708Cys)
c.2345T>G (p.Phe782Cys)
c.2135T>G (p.Phe712Cys)
c.2285T>G (p.Phe762Cys)
Xg.50090800C>ACA413191110CLCN5c.2274C>A (p.Phe758Leu)
c.1596C>A (p.Phe532Leu)
c.2064C>A (p.Phe688Leu)
c.2561C>A
c.*1449C>A (n.*1449C>A)
c.2124C>A (p.Phe708Leu)
c.2346C>A (p.Phe782Leu)
c.2136C>A (p.Phe712Leu)
c.2286C>A (p.Phe762Leu)
Xg.50090800C>GCA413191112CLCN5c.2274C>G (p.Phe758Leu)
c.1596C>G (p.Phe532Leu)
c.2064C>G (p.Phe688Leu)
c.2561C>G
c.*1449C>G (n.*1449C>G)
c.2124C>G (p.Phe708Leu)
c.2346C>G (p.Phe782Leu)
c.2136C>G (p.Phe712Leu)
c.2286C>G (p.Phe762Leu)
Xg.50090800C>TCA516679245CLCN5c.2274C>T (p.Phe758=)
c.1596C>T (p.Phe532=)
c.2064C>T (p.Phe688=)
c.2561C>T
c.*1449C>T (n.*1449C>T)
c.2124C>T (p.Phe708=)
c.2346C>T (p.Phe782=)
c.2136C>T (p.Phe712=)
c.2286C>T (p.Phe762=)
 gnomAD v4
Xg.50090801A>CCA413191115CLCN5c.2275A>C (p.Thr759Pro)
c.1597A>C (p.Thr533Pro)
c.2065A>C (p.Thr689Pro)
c.2562A>C
c.*1450A>C (n.*1450A>C)
c.2125A>C (p.Thr709Pro)
c.2347A>C (p.Thr783Pro)
c.2137A>C (p.Thr713Pro)
c.2287A>C (p.Thr763Pro)
Xg.50090801A>GCA413191118CLCN5c.2275A>G (p.Thr759Ala)
c.1597A>G (p.Thr533Ala)
c.2065A>G (p.Thr689Ala)
c.2562A>G
c.*1450A>G (n.*1450A>G)
c.2125A>G (p.Thr709Ala)
c.2347A>G (p.Thr783Ala)
c.2137A>G (p.Thr713Ala)
c.2287A>G (p.Thr763Ala)
Xg.50090801A>TCA413191120CLCN5c.2275A>T (p.Thr759Ser)
c.1597A>T (p.Thr533Ser)
c.2065A>T (p.Thr689Ser)
c.2562A>T
c.*1450A>T (n.*1450A>T)
c.2125A>T (p.Thr709Ser)
c.2347A>T (p.Thr783Ser)
c.2137A>T (p.Thr713Ser)
c.2287A>T (p.Thr763Ser)
Xg.50090802C>ACA413191127CLCN5c.2276C>A (p.Thr759Asn)
c.1598C>A (p.Thr533Asn)
c.2066C>A (p.Thr689Asn)
c.2563C>A
c.*1451C>A (n.*1451C>A)
c.2126C>A (p.Thr709Asn)
c.2348C>A (p.Thr783Asn)
c.2138C>A (p.Thr713Asn)
c.2288C>A (p.Thr763Asn)
Xg.50090802C>GCA413191123CLCN5c.2276C>G (p.Thr759Ser)
c.1598C>G (p.Thr533Ser)
c.2066C>G (p.Thr689Ser)
c.2563C>G
c.*1451C>G (n.*1451C>G)
c.2126C>G (p.Thr709Ser)
c.2348C>G (p.Thr783Ser)
c.2138C>G (p.Thr713Ser)
c.2288C>G (p.Thr763Ser)
Xg.50090802C>TCA413191125CLCN5c.2276C>T (p.Thr759Ile)
c.1598C>T (p.Thr533Ile)
c.2066C>T (p.Thr689Ile)
c.2563C>T
c.*1451C>T (n.*1451C>T)
c.2126C>T (p.Thr709Ile)
c.2348C>T (p.Thr783Ile)
c.2138C>T (p.Thr713Ile)
c.2288C>T (p.Thr763Ile)
Xg.50090803T>ACA516679251CLCN5c.2277T>A (p.Thr759=)
c.1599T>A (p.Thr533=)
c.2067T>A (p.Thr689=)
c.2564T>A
c.*1452T>A (n.*1452T>A)
c.2127T>A (p.Thr709=)
c.2349T>A (p.Thr783=)
c.2139T>A (p.Thr713=)
c.2289T>A (p.Thr763=)
Xg.50090803T>CCA516679252CLCN5c.2277T>C (p.Thr759=)
c.1599T>C (p.Thr533=)
c.2067T>C (p.Thr689=)
c.2564T>C
c.*1452T>C (n.*1452T>C)
c.2127T>C (p.Thr709=)
c.2349T>C (p.Thr783=)
c.2139T>C (p.Thr713=)
c.2289T>C (p.Thr763=)
Xg.50090803T>GCA516679253CLCN5c.2277T>G (p.Thr759=)
c.1599T>G (p.Thr533=)
c.2067T>G (p.Thr689=)
c.2564T>G
c.*1452T>G (n.*1452T>G)
c.2127T>G (p.Thr709=)
c.2349T>G (p.Thr783=)
c.2139T>G (p.Thr713=)
c.2289T>G (p.Thr763=)
Xg.50090804G>ACA413191131CLCN5c.2278G>A (p.Val760Met)
c.1600G>A (p.Val534Met)
c.2068G>A (p.Val690Met)
c.2565G>A
c.*1453G>A (n.*1453G>A)
c.2128G>A (p.Val710Met)
c.2350G>A (p.Val784Met)
c.2140G>A (p.Val714Met)
c.2290G>A (p.Val764Met)
Xg.50090804G>CCA413191133CLCN5c.2278G>C (p.Val760Leu)
c.1600G>C (p.Val534Leu)
c.2068G>C (p.Val690Leu)
c.2565G>C
c.*1453G>C (n.*1453G>C)
c.2128G>C (p.Val710Leu)
c.2350G>C (p.Val784Leu)
c.2140G>C (p.Val714Leu)
c.2290G>C (p.Val764Leu)
Xg.50090804G>TCA413191135CLCN5c.2278G>T (p.Val760Leu)
c.1600G>T (p.Val534Leu)
c.2068G>T (p.Val690Leu)
c.2565G>T
c.*1453G>T (n.*1453G>T)
c.2128G>T (p.Val710Leu)
c.2350G>T (p.Val784Leu)
c.2140G>T (p.Val714Leu)
c.2290G>T (p.Val764Leu)
Xg.50090804_50090808delinsGTGACCA2428770188CLCN5c.2278_2282delinsGTGAC (p.Val760=)
c.1600_1604delinsGTGAC (p.Val534=)
c.2068_2072delinsGTGAC (p.Val690=)
c.2565_2569delinsGTGAC
c.*1453_*1457delinsGTGAC (n.*1453_*1457delinsGTGAC)
c.2128_2132delinsGTGAC (p.Val710=)
c.2350_2354delinsGTGAC (p.Val784=)
c.2140_2144delinsGTGAC (p.Val714=)
c.2290_2294delinsGTGAC (p.Val764=)
Xg.50090805T>ACA413191137CLCN5c.2279T>A (p.Val760Glu)
c.1601T>A (p.Val534Glu)
c.2069T>A (p.Val690Glu)
c.2566T>A
c.*1454T>A (n.*1454T>A)
c.2129T>A (p.Val710Glu)
c.2351T>A (p.Val784Glu)
c.2141T>A (p.Val714Glu)
c.2291T>A (p.Val764Glu)
Xg.50090805T>CCA413191139CLCN5c.2279T>C (p.Val760Ala)
c.1601T>C (p.Val534Ala)
c.2069T>C (p.Val690Ala)
c.2566T>C
c.*1454T>C (n.*1454T>C)
c.2129T>C (p.Val710Ala)
c.2351T>C (p.Val784Ala)
c.2141T>C (p.Val714Ala)
c.2291T>C (p.Val764Ala)
Xg.50090805T>GCA413191141CLCN5c.2279T>G (p.Val760Gly)
c.1601T>G (p.Val534Gly)
c.2069T>G (p.Val690Gly)
c.2566T>G
c.*1454T>G (n.*1454T>G)
c.2129T>G (p.Val710Gly)
c.2351T>G (p.Val784Gly)
c.2141T>G (p.Val714Gly)
c.2291T>G (p.Val764Gly)
Xg.50090809_50090812delCA658799747CLCN5c.2283_2286del (p.Asp762LeufsTer7)
c.1605_1608del (p.Asp536LeufsTer7)
c.2073_2076del (p.Asp692LeufsTer7)
c.2570_2573del
c.*1458_*1461del (n.*1458_*1461del)
c.2133_2136del (p.Asp712LeufsTer7)
c.2355_2358del (p.Asp786LeufsTer7)
c.2145_2148del (p.Asp716LeufsTer7)
c.2295_2298del (p.Asp766LeufsTer7)
 ClinVar dbSNP
Xg.50090806G>ACA516679259CLCN5c.2280G>A (p.Val760=)
c.1602G>A (p.Val534=)
c.2070G>A (p.Val690=)
c.2567G>A
c.*1455G>A (n.*1455G>A)
c.2130G>A (p.Val710=)
c.2352G>A (p.Val784=)
c.2142G>A (p.Val714=)
c.2292G>A (p.Val764=)
Xg.50090806G>CCA516679261CLCN5c.2280G>C (p.Val760=)
c.1602G>C (p.Val534=)
c.2070G>C (p.Val690=)
c.2567G>C
c.*1455G>C (n.*1455G>C)
c.2130G>C (p.Val710=)
c.2352G>C (p.Val784=)
c.2142G>C (p.Val714=)
c.2292G>C (p.Val764=)
Xg.50090806G>TCA516679262CLCN5c.2280G>T (p.Val760=)
c.1602G>T (p.Val534=)
c.2070G>T (p.Val690=)
c.2567G>T
c.*1455G>T (n.*1455G>T)
c.2130G>T (p.Val710=)
c.2352G>T (p.Val784=)
c.2142G>T (p.Val714=)
c.2292G>T (p.Val764=)
Xg.50090807A>CCA413191144CLCN5c.2281A>C (p.Thr761Pro)
c.1603A>C (p.Thr535Pro)
c.2071A>C (p.Thr691Pro)
c.2568A>C
c.*1456A>C (n.*1456A>C)
c.2131A>C (p.Thr711Pro)
c.2353A>C (p.Thr785Pro)
c.2143A>C (p.Thr715Pro)
c.2293A>C (p.Thr765Pro)
Xg.50090807A>GCA413191145CLCN5c.2281A>G (p.Thr761Ala)
c.1603A>G (p.Thr535Ala)
c.2071A>G (p.Thr691Ala)
c.2568A>G
c.*1456A>G (n.*1456A>G)
c.2131A>G (p.Thr711Ala)
c.2353A>G (p.Thr785Ala)
c.2143A>G (p.Thr715Ala)
c.2293A>G (p.Thr765Ala)
Xg.50090807A>TCA413191148CLCN5c.2281A>T (p.Thr761Ser)
c.1603A>T (p.Thr535Ser)
c.2071A>T (p.Thr691Ser)
c.2568A>T
c.*1456A>T (n.*1456A>T)
c.2131A>T (p.Thr711Ser)
c.2353A>T (p.Thr785Ser)
c.2143A>T (p.Thr715Ser)
c.2293A>T (p.Thr765Ser)
Xg.50090807_50090808insAGGGGCA2820855636CLCN5c.2281_2282insAGGGG (p.Thr761LysfsTer11)
c.1603_1604insAGGGG (p.Thr535LysfsTer11)
c.2071_2072insAGGGG (p.Thr691LysfsTer11)
c.2568_2569insAGGGG
c.*1456_*1457insAGGGG (n.*1456_*1457insAGGGG)
c.2131_2132insAGGGG (p.Thr711LysfsTer11)
c.2353_2354insAGGGG (p.Thr785LysfsTer11)
c.2143_2144insAGGGG (p.Thr715LysfsTer11)
c.2293_2294insAGGGG (p.Thr765LysfsTer11)
Xg.50090808C>ACA413191152CLCN5c.2282C>A (p.Thr761Asn)
c.1604C>A (p.Thr535Asn)
c.2072C>A (p.Thr691Asn)
c.2569C>A
c.*1457C>A (n.*1457C>A)
c.2132C>A (p.Thr711Asn)
c.2354C>A (p.Thr785Asn)
c.2144C>A (p.Thr715Asn)
c.2294C>A (p.Thr765Asn)
Xg.50090808C>GCA413191155CLCN5c.2282C>G (p.Thr761Ser)
c.1604C>G (p.Thr535Ser)
c.2072C>G (p.Thr691Ser)
c.2569C>G
c.*1457C>G (n.*1457C>G)
c.2132C>G (p.Thr711Ser)
c.2354C>G (p.Thr785Ser)
c.2144C>G (p.Thr715Ser)
c.2294C>G (p.Thr765Ser)
Xg.50090808C>TCA413191156CLCN5c.2282C>T (p.Thr761Ile)
c.1604C>T (p.Thr535Ile)
c.2072C>T (p.Thr691Ile)
c.2569C>T
c.*1457C>T (n.*1457C>T)
c.2132C>T (p.Thr711Ile)
c.2354C>T (p.Thr785Ile)
c.2144C>T (p.Thr715Ile)
c.2294C>T (p.Thr765Ile)
Xg.50090809T>ACA516679264CLCN5c.2283T>A (p.Thr761=)
c.1605T>A (p.Thr535=)
c.2073T>A (p.Thr691=)
c.2570T>A
c.*1458T>A (n.*1458T>A)
c.2133T>A (p.Thr711=)
c.2355T>A (p.Thr785=)
c.2145T>A (p.Thr715=)
c.2295T>A (p.Thr765=)
Xg.50090809T>CCA516679270CLCN5c.2283T>C (p.Thr761=)
c.1605T>C (p.Thr535=)
c.2073T>C (p.Thr691=)
c.2570T>C
c.*1458T>C (n.*1458T>C)
c.2133T>C (p.Thr711=)
c.2355T>C (p.Thr785=)
c.2145T>C (p.Thr715=)
c.2295T>C (p.Thr765=)
Xg.50090809T>GCA516679266CLCN5c.2283T>G (p.Thr761=)
c.1605T>G (p.Thr535=)
c.2073T>G (p.Thr691=)
c.2570T>G
c.*1458T>G (n.*1458T>G)
c.2133T>G (p.Thr711=)
c.2355T>G (p.Thr785=)
c.2145T>G (p.Thr715=)
c.2295T>G (p.Thr765=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.50090809T=CA2428770189CLCN5c.2283T= (p.Thr761=)
c.1605T= (p.Thr535=)
c.2073T= (p.Thr691=)
c.2570T=
c.*1458T= (n.*1458T=)
c.2133T= (p.Thr711=)
c.2355T= (p.Thr785=)
c.2145T= (p.Thr715=)
c.2295T= (p.Thr765=)
Xg.50090810G>ACA413191159CLCN5c.2284G>A (p.Asp762Asn)
c.1606G>A (p.Asp536Asn)
c.2074G>A (p.Asp692Asn)
c.2571G>A
c.*1459G>A (n.*1459G>A)
c.2134G>A (p.Asp712Asn)
c.2356G>A (p.Asp786Asn)
c.2146G>A (p.Asp716Asn)
c.2296G>A (p.Asp766Asn)
Xg.50090810G>CCA413191163CLCN5c.2284G>C (p.Asp762His)
c.1606G>C (p.Asp536His)
c.2074G>C (p.Asp692His)
c.2571G>C
c.*1459G>C (n.*1459G>C)
c.2134G>C (p.Asp712His)
c.2356G>C (p.Asp786His)
c.2146G>C (p.Asp716His)
c.2296G>C (p.Asp766His)
Xg.50090810G>TCA413191161CLCN5c.2284G>T (p.Asp762Tyr)
c.1606G>T (p.Asp536Tyr)
c.2074G>T (p.Asp692Tyr)
c.2571G>T
c.*1459G>T (n.*1459G>T)
c.2134G>T (p.Asp712Tyr)
c.2356G>T (p.Asp786Tyr)
c.2146G>T (p.Asp716Tyr)
c.2296G>T (p.Asp766Tyr)
Xg.50090812_50090826delCA2820855637CLCN5c.2286_2300del (p.Asp762_Met766del)
c.1608_1622del (p.Asp536_Met540del)
c.2076_2090del (p.Asp692_Met696del)
c.2573_2587del
c.*1461_*1475del (n.*1461_*1475del)
c.2136_2150del (p.Asp712_Met716del)
c.2358_2372del (p.Asp786_Met790del)
c.2148_2162del (p.Asp716_Met720del)
c.2298_2312del (p.Asp766_Met770del)
Xg.50090811A>CCA413191165CLCN5c.2285A>C (p.Asp762Ala)
c.1607A>C (p.Asp536Ala)
c.2075A>C (p.Asp692Ala)
c.2572A>C
c.*1460A>C (n.*1460A>C)
c.2135A>C (p.Asp712Ala)
c.2357A>C (p.Asp786Ala)
c.2147A>C (p.Asp716Ala)
c.2297A>C (p.Asp766Ala)
Xg.50090811A>GCA413191167CLCN5c.2285A>G (p.Asp762Gly)
c.1607A>G (p.Asp536Gly)
c.2075A>G (p.Asp692Gly)
c.2572A>G
c.*1460A>G (n.*1460A>G)
c.2135A>G (p.Asp712Gly)
c.2357A>G (p.Asp786Gly)
c.2147A>G (p.Asp716Gly)
c.2297A>G (p.Asp766Gly)
Xg.50090811A>TCA413191168CLCN5c.2285A>T (p.Asp762Val)
c.1607A>T (p.Asp536Val)
c.2075A>T (p.Asp692Val)
c.2572A>T
c.*1460A>T (n.*1460A>T)
c.2135A>T (p.Asp712Val)
c.2357A>T (p.Asp786Val)
c.2147A>T (p.Asp716Val)
c.2297A>T (p.Asp766Val)
Xg.50090812C>ACA413191171CLCN5c.2286C>A (p.Asp762Glu)
c.1608C>A (p.Asp536Glu)
c.2076C>A (p.Asp692Glu)
c.2573C>A
c.*1461C>A (n.*1461C>A)
c.2136C>A (p.Asp712Glu)
c.2358C>A (p.Asp786Glu)
c.2148C>A (p.Asp716Glu)
c.2298C>A (p.Asp766Glu)
Xg.50090812C>GCA413191173CLCN5c.2286C>G (p.Asp762Glu)
c.1608C>G (p.Asp536Glu)
c.2076C>G (p.Asp692Glu)
c.2573C>G
c.*1461C>G (n.*1461C>G)
c.2136C>G (p.Asp712Glu)
c.2358C>G (p.Asp786Glu)
c.2148C>G (p.Asp716Glu)
c.2298C>G (p.Asp766Glu)
Xg.50090812C>TCA516679275CLCN5c.2286C>T (p.Asp762=)
c.1608C>T (p.Asp536=)
c.2076C>T (p.Asp692=)
c.2573C>T
c.*1461C>T (n.*1461C>T)
c.2136C>T (p.Asp712=)
c.2358C>T (p.Asp786=)
c.2148C>T (p.Asp716=)
c.2298C>T (p.Asp766=)
 COSMIC COSMIC
Xg.50090813C>ACA413191176CLCN5c.2287C>A (p.Leu763Ile)
c.1609C>A (p.Leu537Ile)
c.2077C>A (p.Leu693Ile)
c.2574C>A
c.*1462C>A (n.*1462C>A)
c.2137C>A (p.Leu713Ile)
c.2359C>A (p.Leu787Ile)
c.2149C>A (p.Leu717Ile)
c.2299C>A (p.Leu767Ile)
Xg.50090813C=CA2428770190CLCN5c.2287C= (p.Leu763=)
c.1609C= (p.Leu537=)
c.2077C= (p.Leu693=)
c.2574C=
c.*1462C= (n.*1462C=)
c.2137C= (p.Leu713=)
c.2359C= (p.Leu787=)
c.2149C= (p.Leu717=)
c.2299C= (p.Leu767=)
Xg.50090813C>GCA413191177CLCN5c.2287C>G (p.Leu763Val)
c.1609C>G (p.Leu537Val)
c.2077C>G (p.Leu693Val)
c.2574C>G
c.*1462C>G (n.*1462C>G)
c.2137C>G (p.Leu713Val)
c.2359C>G (p.Leu787Val)
c.2149C>G (p.Leu717Val)
c.2299C>G (p.Leu767Val)
Xg.50090813C>TCA329782614CLCN5c.2287C>T (p.Leu763Phe)
c.1609C>T (p.Leu537Phe)
c.2077C>T (p.Leu693Phe)
c.2574C>T
c.*1462C>T (n.*1462C>T)
c.2137C>T (p.Leu713Phe)
c.2359C>T (p.Leu787Phe)
c.2149C>T (p.Leu717Phe)
c.2299C>T (p.Leu767Phe)
 dbSNP
Xg.50090814T>ACA413191183CLCN5c.2288T>A (p.Leu763His)
c.1610T>A (p.Leu537His)
c.2078T>A (p.Leu693His)
c.2575T>A
c.*1463T>A (n.*1463T>A)
c.2138T>A (p.Leu713His)
c.2360T>A (p.Leu787His)
c.2150T>A (p.Leu717His)
c.2300T>A (p.Leu767His)
Xg.50090814T>CCA413191184CLCN5c.2288T>C (p.Leu763Pro)
c.1610T>C (p.Leu537Pro)
c.2078T>C (p.Leu693Pro)
c.2575T>C
c.*1463T>C (n.*1463T>C)
c.2138T>C (p.Leu713Pro)
c.2360T>C (p.Leu787Pro)
c.2150T>C (p.Leu717Pro)
c.2300T>C (p.Leu767Pro)
Xg.50090814T>GCA413191186CLCN5c.2288T>G (p.Leu763Arg)
c.1610T>G (p.Leu537Arg)
c.2078T>G (p.Leu693Arg)
c.2575T>G
c.*1463T>G (n.*1463T>G)
c.2138T>G (p.Leu713Arg)
c.2360T>G (p.Leu787Arg)
c.2150T>G (p.Leu717Arg)
c.2300T>G (p.Leu767Arg)
 dbSNP gnomAD v4
Xg.50090814T=CA2428770191CLCN5c.2288T= (p.Leu763=)
c.1610T= (p.Leu537=)
c.2078T= (p.Leu693=)
c.2575T=
c.*1463T= (n.*1463T=)
c.2138T= (p.Leu713=)
c.2360T= (p.Leu787=)
c.2150T= (p.Leu717=)
c.2300T= (p.Leu767=)
Xg.50090815dupCA2695233725CLCN5c.2289dup (p.Thr764TyrfsTer?)
c.1611dup (p.Thr538TyrfsTer?)
c.2079dup (p.Thr694TyrfsTer?)
c.2576dup
c.*1464dup (n.*1464dup)
c.2139dup (p.Thr714TyrfsTer?)
c.2361dup (p.Thr788TyrfsTer?)
c.2151dup (p.Thr718TyrfsTer?)
c.2301dup (p.Thr768TyrfsTer?)
Xg.50090815T>ACA516679306CLCN5c.2289T>A (p.Leu763=)
c.1611T>A (p.Leu537=)
c.2079T>A (p.Leu693=)
c.2576T>A
c.*1464T>A (n.*1464T>A)
c.2139T>A (p.Leu713=)
c.2361T>A (p.Leu787=)
c.2151T>A (p.Leu717=)
c.2301T>A (p.Leu767=)
Xg.50090815T>CCA10413985CLCN5c.2289T>C (p.Leu763=)
c.1611T>C (p.Leu537=)
c.2079T>C (p.Leu693=)
c.2576T>C
c.*1464T>C (n.*1464T>C)
c.2139T>C (p.Leu713=)
c.2361T>C (p.Leu787=)
c.2151T>C (p.Leu717=)
c.2301T>C (p.Leu767=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50090815T>GCA516679310CLCN5c.2289T>G (p.Leu763=)
c.1611T>G (p.Leu537=)
c.2079T>G (p.Leu693=)
c.2576T>G
c.*1464T>G (n.*1464T>G)
c.2139T>G (p.Leu713=)
c.2361T>G (p.Leu787=)
c.2151T>G (p.Leu717=)
c.2301T>G (p.Leu767=)
Xg.50090815T=CA2428770192CLCN5c.2289T= (p.Leu763=)
c.1611T= (p.Leu537=)
c.2079T= (p.Leu693=)
c.2576T=
c.*1464T= (n.*1464T=)
c.2139T= (p.Leu713=)
c.2361T= (p.Leu787=)
c.2151T= (p.Leu717=)
c.2301T= (p.Leu767=)
Xg.50090815_50090816insGCA2695233727CLCN5c.2289_2290insG (p.Thr764AspfsTer?)
c.1611_1612insG (p.Thr538AspfsTer?)
c.2079_2080insG (p.Thr694AspfsTer?)
c.2576_2577insG
c.*1464_*1465insG (n.*1464_*1465insG)
c.2139_2140insG (p.Thr714AspfsTer?)
c.2361_2362insG (p.Thr788AspfsTer?)
c.2151_2152insG (p.Thr718AspfsTer?)
c.2301_2302insG (p.Thr768AspfsTer?)
Xg.50090816A>CCA413191196CLCN5c.2290A>C (p.Thr764Pro)
c.1612A>C (p.Thr538Pro)
c.2080A>C (p.Thr694Pro)
c.2577A>C
c.*1465A>C (n.*1465A>C)
c.2140A>C (p.Thr714Pro)
c.2362A>C (p.Thr788Pro)
c.2152A>C (p.Thr718Pro)
c.2302A>C (p.Thr768Pro)
Xg.50090816A>GCA413191191CLCN5c.2290A>G (p.Thr764Ala)
c.1612A>G (p.Thr538Ala)
c.2080A>G (p.Thr694Ala)
c.2577A>G
c.*1465A>G (n.*1465A>G)
c.2140A>G (p.Thr714Ala)
c.2362A>G (p.Thr788Ala)
c.2152A>G (p.Thr718Ala)
c.2302A>G (p.Thr768Ala)
Xg.50090816A>TCA413191194CLCN5c.2290A>T (p.Thr764Ser)
c.1612A>T (p.Thr538Ser)
c.2080A>T (p.Thr694Ser)
c.2577A>T
c.*1465A>T (n.*1465A>T)
c.2140A>T (p.Thr714Ser)
c.2362A>T (p.Thr788Ser)
c.2152A>T (p.Thr718Ser)
c.2302A>T (p.Thr768Ser)
Xg.50090816dupCA2695233726CLCN5c.2290dup (p.Thr764AsnfsTer?)
c.1612dup (p.Thr538AsnfsTer?)
c.2080dup (p.Thr694AsnfsTer?)
c.2577dup
c.*1465dup (n.*1465dup)
c.2140dup (p.Thr714AsnfsTer?)
c.2362dup (p.Thr788AsnfsTer?)
c.2152dup (p.Thr718AsnfsTer?)
c.2302dup (p.Thr768AsnfsTer?)
Xg.50090817C>ACA413191199CLCN5c.2291C>A (p.Thr764Lys)
c.1613C>A (p.Thr538Lys)
c.2081C>A (p.Thr694Lys)
c.2578C>A
c.*1466C>A (n.*1466C>A)
c.2141C>A (p.Thr714Lys)
c.2363C>A (p.Thr788Lys)
c.2153C>A (p.Thr718Lys)
c.2303C>A (p.Thr768Lys)
Xg.50090817C>GCA413191201CLCN5c.2291C>G (p.Thr764Arg)
c.1613C>G (p.Thr538Arg)
c.2081C>G (p.Thr694Arg)
c.2578C>G
c.*1466C>G (n.*1466C>G)
c.2141C>G (p.Thr714Arg)
c.2363C>G (p.Thr788Arg)
c.2153C>G (p.Thr718Arg)
c.2303C>G (p.Thr768Arg)
Xg.50090817C>TCA413191204CLCN5c.2291C>T (p.Thr764Ile)
c.1613C>T (p.Thr538Ile)
c.2081C>T (p.Thr694Ile)
c.2578C>T
c.*1466C>T (n.*1466C>T)
c.2141C>T (p.Thr714Ile)
c.2363C>T (p.Thr788Ile)
c.2153C>T (p.Thr718Ile)
c.2303C>T (p.Thr768Ile)
Xg.50090817dupCA2695233728CLCN5c.2291dup (p.Pro765ThrfsTer?)
c.1613dup (p.Pro539ThrfsTer?)
c.2081dup (p.Pro695ThrfsTer?)
c.2578dup
c.*1466dup (n.*1466dup)
c.2141dup (p.Pro715ThrfsTer?)
c.2363dup (p.Pro789ThrfsTer?)
c.2153dup (p.Pro719ThrfsTer?)
c.2303dup (p.Pro769ThrfsTer?)
Xg.50090818A>CCA516679322CLCN5c.2292A>C (p.Thr764=)
c.1614A>C (p.Thr538=)
c.2082A>C (p.Thr694=)
c.2579A>C
c.*1467A>C (n.*1467A>C)
c.2142A>C (p.Thr714=)
c.2364A>C (p.Thr788=)
c.2154A>C (p.Thr718=)
c.2304A>C (p.Thr768=)
 COSMIC COSMIC
Xg.50090818A>GCA516679323CLCN5c.2292A>G (p.Thr764=)
c.1614A>G (p.Thr538=)
c.2082A>G (p.Thr694=)
c.2579A>G
c.*1467A>G (n.*1467A>G)
c.2142A>G (p.Thr714=)
c.2364A>G (p.Thr788=)
c.2154A>G (p.Thr718=)
c.2304A>G (p.Thr768=)
Xg.50090818A>TCA516679324CLCN5c.2292A>T (p.Thr764=)
c.1614A>T (p.Thr538=)
c.2082A>T (p.Thr694=)
c.2579A>T
c.*1467A>T (n.*1467A>T)
c.2142A>T (p.Thr714=)
c.2364A>T (p.Thr788=)
c.2154A>T (p.Thr718=)
c.2304A>T (p.Thr768=)
Xg.50090818_50090819delinsACCA2428770193CLCN5c.2292_2293delinsAC (p.Thr764=)
c.1614_1615delinsAC (p.Thr538=)
c.2082_2083delinsAC (p.Thr694=)
c.2579_2580delinsAC
c.*1467_*1468delinsAC (n.*1467_*1468delinsAC)
c.2142_2143delinsAC (p.Thr714=)
c.2364_2365delinsAC (p.Thr788=)
c.2154_2155delinsAC (p.Thr718=)
c.2304_2305delinsAC (p.Thr768=)
Xg.50090819C>ACA413191206CLCN5c.2293C>A (p.Pro765Thr)
c.1615C>A (p.Pro539Thr)
c.2083C>A (p.Pro695Thr)
c.2580C>A
c.*1468C>A (n.*1468C>A)
c.2143C>A (p.Pro715Thr)
c.2365C>A (p.Pro789Thr)
c.2155C>A (p.Pro719Thr)
c.2305C>A (p.Pro769Thr)
Xg.50090819C=CA2428770194CLCN5c.2293C= (p.Pro765=)
c.1615C= (p.Pro539=)
c.2083C= (p.Pro695=)
c.2580C=
c.*1468C= (n.*1468C=)
c.2143C= (p.Pro715=)
c.2365C= (p.Pro789=)
c.2155C= (p.Pro719=)
c.2305C= (p.Pro769=)
Xg.50090819C>GCA10413986CLCN5c.2293C>G (p.Pro765Ala)
c.1615C>G (p.Pro539Ala)
c.2083C>G (p.Pro695Ala)
c.2580C>G
c.*1468C>G (n.*1468C>G)
c.2143C>G (p.Pro715Ala)
c.2365C>G (p.Pro789Ala)
c.2155C>G (p.Pro719Ala)
c.2305C>G (p.Pro769Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50090819C>TCA413191210CLCN5c.2293C>T (p.Pro765Ser)
c.1615C>T (p.Pro539Ser)
c.2083C>T (p.Pro695Ser)
c.2580C>T
c.*1468C>T (n.*1468C>T)
c.2143C>T (p.Pro715Ser)
c.2365C>T (p.Pro789Ser)
c.2155C>T (p.Pro719Ser)
c.2305C>T (p.Pro769Ser)
 ClinVar dbSNP
Xg.50090821delCA913190818CLCN5c.2295del (p.Met766TrpfsTer4)
c.1617del (p.Met540TrpfsTer4)
c.2085del (p.Met696TrpfsTer4)
c.2582del
c.*1470del (n.*1470del)
c.2145del (p.Met716TrpfsTer4)
c.2367del (p.Met790TrpfsTer4)
c.2157del (p.Met720TrpfsTer4)
c.2307del (p.Met770TrpfsTer4)
 ClinVar dbSNP
Xg.50090820C>ACA413191214CLCN5c.2294C>A (p.Pro765His)
c.1616C>A (p.Pro539His)
c.2084C>A (p.Pro695His)
c.2581C>A
c.*1469C>A (n.*1469C>A)
c.2144C>A (p.Pro715His)
c.2366C>A (p.Pro789His)
c.2156C>A (p.Pro719His)
c.2306C>A (p.Pro769His)
Xg.50090820C>GCA413191217CLCN5c.2294C>G (p.Pro765Arg)
c.1616C>G (p.Pro539Arg)
c.2084C>G (p.Pro695Arg)
c.2581C>G
c.*1469C>G (n.*1469C>G)
c.2144C>G (p.Pro715Arg)
c.2366C>G (p.Pro789Arg)
c.2156C>G (p.Pro719Arg)
c.2306C>G (p.Pro769Arg)
Xg.50090820C>TCA413191220CLCN5c.2294C>T (p.Pro765Leu)
c.1616C>T (p.Pro539Leu)
c.2084C>T (p.Pro695Leu)
c.2581C>T
c.*1469C>T (n.*1469C>T)
c.2144C>T (p.Pro715Leu)
c.2366C>T (p.Pro789Leu)
c.2156C>T (p.Pro719Leu)
c.2306C>T (p.Pro769Leu)
 COSMIC COSMIC
Xg.50090821C>ACA516679343CLCN5c.2295C>A (p.Pro765=)
c.1617C>A (p.Pro539=)
c.2085C>A (p.Pro695=)
c.2582C>A
c.*1470C>A (n.*1470C>A)
c.2145C>A (p.Pro715=)
c.2367C>A (p.Pro789=)
c.2157C>A (p.Pro719=)
c.2307C>A (p.Pro769=)
Xg.50090821C>GCA516679348CLCN5c.2295C>G (p.Pro765=)
c.1617C>G (p.Pro539=)
c.2085C>G (p.Pro695=)
c.2582C>G
c.*1470C>G (n.*1470C>G)
c.2145C>G (p.Pro715=)
c.2367C>G (p.Pro789=)
c.2157C>G (p.Pro719=)
c.2307C>G (p.Pro769=)
Xg.50090821C>TCA516679352CLCN5c.2295C>T (p.Pro765=)
c.1617C>T (p.Pro539=)
c.2085C>T (p.Pro695=)
c.2582C>T
c.*1470C>T (n.*1470C>T)
c.2145C>T (p.Pro715=)
c.2367C>T (p.Pro789=)
c.2157C>T (p.Pro719=)
c.2307C>T (p.Pro769=)
Xg.50090822A>CCA413191223CLCN5c.2296A>C (p.Met766Leu)
c.1618A>C (p.Met540Leu)
c.2086A>C (p.Met696Leu)
c.2583A>C
c.*1471A>C (n.*1471A>C)
c.2146A>C (p.Met716Leu)
c.2368A>C (p.Met790Leu)
c.2158A>C (p.Met720Leu)
c.2308A>C (p.Met770Leu)
Xg.50090822A>GCA413191224CLCN5c.2296A>G (p.Met766Val)
c.1618A>G (p.Met540Val)
c.2086A>G (p.Met696Val)
c.2583A>G
c.*1471A>G (n.*1471A>G)
c.2146A>G (p.Met716Val)
c.2368A>G (p.Met790Val)
c.2158A>G (p.Met720Val)
c.2308A>G (p.Met770Val)
 gnomAD v4
Xg.50090822A>TCA413191226CLCN5c.2296A>T (p.Met766Leu)
c.1618A>T (p.Met540Leu)
c.2086A>T (p.Met696Leu)
c.2583A>T
c.*1471A>T (n.*1471A>T)
c.2146A>T (p.Met716Leu)
c.2368A>T (p.Met790Leu)
c.2158A>T (p.Met720Leu)
c.2308A>T (p.Met770Leu)
Xg.50090823delCA2573158927CLCN5c.2297del (p.Met766ArgfsTer4)
c.1619del (p.Met540ArgfsTer4)
c.2087del (p.Met696ArgfsTer4)
c.2584del
c.*1472del (n.*1472del)
c.2147del (p.Met716ArgfsTer4)
c.2369del (p.Met790ArgfsTer4)
c.2159del (p.Met720ArgfsTer4)
c.2309del (p.Met770ArgfsTer4)
 ClinVar dbSNP
Xg.50090823T>ACA413191231CLCN5c.2297T>A (p.Met766Lys)
c.1619T>A (p.Met540Lys)
c.2087T>A (p.Met696Lys)
c.2584T>A
c.*1472T>A (n.*1472T>A)
c.2147T>A (p.Met716Lys)
c.2369T>A (p.Met790Lys)
c.2159T>A (p.Met720Lys)
c.2309T>A (p.Met770Lys)
Xg.50090823T>CCA413191234CLCN5c.2297T>C (p.Met766Thr)
c.1619T>C (p.Met540Thr)
c.2087T>C (p.Met696Thr)
c.2584T>C
c.*1472T>C (n.*1472T>C)
c.2147T>C (p.Met716Thr)
c.2369T>C (p.Met790Thr)
c.2159T>C (p.Met720Thr)
c.2309T>C (p.Met770Thr)
 dbSNP
Xg.50090823T>GCA413191229CLCN5c.2297T>G (p.Met766Arg)
c.1619T>G (p.Met540Arg)
c.2087T>G (p.Met696Arg)
c.2584T>G
c.*1472T>G (n.*1472T>G)
c.2147T>G (p.Met716Arg)
c.2369T>G (p.Met790Arg)
c.2159T>G (p.Met720Arg)
c.2309T>G (p.Met770Arg)
 gnomAD v4
Xg.50090824G>ACA413191237CLCN5c.2298G>A (p.Met766Ile)
c.1620G>A (p.Met540Ile)
c.2088G>A (p.Met696Ile)
c.2585G>A
c.*1473G>A (n.*1473G>A)
c.2148G>A (p.Met716Ile)
c.2370G>A (p.Met790Ile)
c.2160G>A (p.Met720Ile)
c.2310G>A (p.Met770Ile)
Xg.50090824G>CCA413191236CLCN5c.2298G>C (p.Met766Ile)
c.1620G>C (p.Met540Ile)
c.2088G>C (p.Met696Ile)
c.2585G>C
c.*1473G>C (n.*1473G>C)
c.2148G>C (p.Met716Ile)
c.2370G>C (p.Met790Ile)
c.2160G>C (p.Met720Ile)
c.2310G>C (p.Met770Ile)
Xg.50090824G>TCA413191239CLCN5c.2298G>T (p.Met766Ile)
c.1620G>T (p.Met540Ile)
c.2088G>T (p.Met696Ile)
c.2585G>T
c.*1473G>T (n.*1473G>T)
c.2148G>T (p.Met716Ile)
c.2370G>T (p.Met790Ile)
c.2160G>T (p.Met720Ile)
c.2310G>T (p.Met770Ile)
Xg.50090825G>ACA413191242CLCN5c.2299G>A (p.Glu767Lys)
c.1621G>A (p.Glu541Lys)
c.2089G>A (p.Glu697Lys)
c.2586G>A
c.*1474G>A (n.*1474G>A)
c.2149G>A (p.Glu717Lys)
c.2371G>A (p.Glu791Lys)
c.2161G>A (p.Glu721Lys)
c.2311G>A (p.Glu771Lys)
 gnomAD v4 COSMIC COSMIC
Xg.50090825G>CCA413191244CLCN5c.2299G>C (p.Glu767Gln)
c.1621G>C (p.Glu541Gln)
c.2089G>C (p.Glu697Gln)
c.2586G>C
c.*1474G>C (n.*1474G>C)
c.2149G>C (p.Glu717Gln)
c.2371G>C (p.Glu791Gln)
c.2161G>C (p.Glu721Gln)
c.2311G>C (p.Glu771Gln)
Xg.50090825G>TCA413191246CLCN5c.2299G>T (p.Glu767Ter)
c.1621G>T (p.Glu541Ter)
c.2089G>T (p.Glu697Ter)
c.2586G>T
c.*1474G>T (n.*1474G>T)
c.2149G>T (p.Glu717Ter)
c.2371G>T (p.Glu791Ter)
c.2161G>T (p.Glu721Ter)
c.2311G>T (p.Glu771Ter)
Xg.50090826A>CCA413191248CLCN5c.2300A>C (p.Glu767Ala)
c.1622A>C (p.Glu541Ala)
c.2090A>C (p.Glu697Ala)
c.2587A>C
c.*1475A>C (n.*1475A>C)
c.2150A>C (p.Glu717Ala)
c.2372A>C (p.Glu791Ala)
c.2162A>C (p.Glu721Ala)
c.2312A>C (p.Glu771Ala)
Xg.50090826A>GCA413191251CLCN5c.2300A>G (p.Glu767Gly)
c.1622A>G (p.Glu541Gly)
c.2090A>G (p.Glu697Gly)
c.2587A>G
c.*1475A>G (n.*1475A>G)
c.2150A>G (p.Glu717Gly)
c.2372A>G (p.Glu791Gly)
c.2162A>G (p.Glu721Gly)
c.2312A>G (p.Glu771Gly)
Xg.50090826A>TCA413191252CLCN5c.2300A>T (p.Glu767Val)
c.1622A>T (p.Glu541Val)
c.2090A>T (p.Glu697Val)
c.2587A>T
c.*1475A>T (n.*1475A>T)
c.2150A>T (p.Glu717Val)
c.2372A>T (p.Glu791Val)
c.2162A>T (p.Glu721Val)
c.2312A>T (p.Glu771Val)
Xg.50090827G>ACA10413987CLCN5c.2301G>A (p.Glu767=)
c.1623G>A (p.Glu541=)
c.2091G>A (p.Glu697=)
c.2588G>A
c.*1476G>A (n.*1476G>A)
c.2151G>A (p.Glu717=)
c.2373G>A (p.Glu791=)
c.2163G>A (p.Glu721=)
c.2313G>A (p.Glu771=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50090827G>CCA413191257CLCN5c.2301G>C (p.Glu767Asp)
c.1623G>C (p.Glu541Asp)
c.2091G>C (p.Glu697Asp)
c.2588G>C
c.*1476G>C (n.*1476G>C)
c.2151G>C (p.Glu717Asp)
c.2373G>C (p.Glu791Asp)
c.2163G>C (p.Glu721Asp)
c.2313G>C (p.Glu771Asp)
Xg.50090827G=CA2428770195CLCN5c.2301G= (p.Glu767=)
c.1623G= (p.Glu541=)
c.2091G= (p.Glu697=)
c.2588G=
c.*1476G= (n.*1476G=)
c.2151G= (p.Glu717=)
c.2373G= (p.Glu791=)
c.2163G= (p.Glu721=)
c.2313G= (p.Glu771=)
Xg.50090827G>TCA413191260CLCN5c.2301G>T (p.Glu767Asp)
c.1623G>T (p.Glu541Asp)
c.2091G>T (p.Glu697Asp)
c.2588G>T
c.*1476G>T (n.*1476G>T)
c.2151G>T (p.Glu717Asp)
c.2373G>T (p.Glu791Asp)
c.2163G>T (p.Glu721Asp)
c.2313G>T (p.Glu771Asp)
Xg.50090828A=CA2428770196CLCN5c.2302A= (p.Ile768=)
c.1624A= (p.Ile542=)
c.2092A= (p.Ile698=)
c.2589A=
c.*1477A= (n.*1477A=)
c.2152A= (p.Ile718=)
c.2374A= (p.Ile792=)
c.2164A= (p.Ile722=)
c.2314A= (p.Ile772=)
Xg.50090828A>CCA413191262CLCN5c.2302A>C (p.Ile768Leu)
c.1624A>C (p.Ile542Leu)
c.2092A>C (p.Ile698Leu)
c.2589A>C
c.*1477A>C (n.*1477A>C)
c.2152A>C (p.Ile718Leu)
c.2374A>C (p.Ile792Leu)
c.2164A>C (p.Ile722Leu)
c.2314A>C (p.Ile772Leu)
Xg.50090828A>GCA413191264CLCN5c.2302A>G (p.Ile768Val)
c.1624A>G (p.Ile542Val)
c.2092A>G (p.Ile698Val)
c.2589A>G
c.*1477A>G (n.*1477A>G)
c.2152A>G (p.Ile718Val)
c.2374A>G (p.Ile792Val)
c.2164A>G (p.Ile722Val)
c.2314A>G (p.Ile772Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.50090828A>TCA413191266CLCN5c.2302A>T (p.Ile768Phe)
c.1624A>T (p.Ile542Phe)
c.2092A>T (p.Ile698Phe)
c.2589A>T
c.*1477A>T (n.*1477A>T)
c.2152A>T (p.Ile718Phe)
c.2374A>T (p.Ile792Phe)
c.2164A>T (p.Ile722Phe)
c.2314A>T (p.Ile772Phe)
Xg.50090829T>ACA413191274CLCN5c.2303T>A (p.Ile768Asn)
c.1625T>A (p.Ile542Asn)
c.2093T>A (p.Ile698Asn)
c.2590T>A
c.*1478T>A (n.*1478T>A)
c.2153T>A (p.Ile718Asn)
c.2375T>A (p.Ile792Asn)
c.2165T>A (p.Ile722Asn)
c.2315T>A (p.Ile772Asn)
Xg.50090829T>CCA413191269CLCN5c.2303T>C (p.Ile768Thr)
c.1625T>C (p.Ile542Thr)
c.2093T>C (p.Ile698Thr)
c.2590T>C
c.*1478T>C (n.*1478T>C)
c.2153T>C (p.Ile718Thr)
c.2375T>C (p.Ile792Thr)
c.2165T>C (p.Ile722Thr)
c.2315T>C (p.Ile772Thr)
Xg.50090829T>GCA413191271CLCN5c.2303T>G (p.Ile768Ser)
c.1625T>G (p.Ile542Ser)
c.2093T>G (p.Ile698Ser)
c.2590T>G
c.*1478T>G (n.*1478T>G)
c.2153T>G (p.Ile718Ser)
c.2375T>G (p.Ile792Ser)
c.2165T>G (p.Ile722Ser)
c.2315T>G (p.Ile772Ser)
 gnomAD v4
Xg.50090830C>ACA516679401CLCN5c.2304C>A (p.Ile768=)
c.1626C>A (p.Ile542=)
c.2094C>A (p.Ile698=)
c.2591C>A
c.*1479C>A (n.*1479C>A)
c.2154C>A (p.Ile718=)
c.2376C>A (p.Ile792=)
c.2166C>A (p.Ile722=)
c.2316C>A (p.Ile772=)
Xg.50090830C=CA2428770197CLCN5c.2304C= (p.Ile768=)
c.1626C= (p.Ile542=)
c.2094C= (p.Ile698=)
c.2591C=
c.*1479C= (n.*1479C=)
c.2154C= (p.Ile718=)
c.2376C= (p.Ile792=)
c.2166C= (p.Ile722=)
c.2316C= (p.Ile772=)
Xg.50090830C>GCA413191276CLCN5c.2304C>G (p.Ile768Met)
c.1626C>G (p.Ile542Met)
c.2094C>G (p.Ile698Met)
c.2591C>G
c.*1479C>G (n.*1479C>G)
c.2154C>G (p.Ile718Met)
c.2376C>G (p.Ile792Met)
c.2166C>G (p.Ile722Met)
c.2316C>G (p.Ile772Met)
Xg.50090830C>TCA10413988CLCN5c.2304C>T (p.Ile768=)
c.1626C>T (p.Ile542=)
c.2094C>T (p.Ile698=)
c.2591C>T
c.*1479C>T (n.*1479C>T)
c.2154C>T (p.Ile718=)
c.2376C>T (p.Ile792=)
c.2166C>T (p.Ile722=)
c.2316C>T (p.Ile772=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.50090831G>ACA10413989CLCN5c.2305G>A (p.Val769Ile)
c.1627G>A (p.Val543Ile)
c.2095G>A (p.Val699Ile)
c.2592G>A
c.*1480G>A (n.*1480G>A)
c.2155G>A (p.Val719Ile)
c.2377G>A (p.Val793Ile)
c.2167G>A (p.Val723Ile)
c.2317G>A (p.Val773Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.50090831G>CCA413191282CLCN5c.2305G>C (p.Val769Leu)
c.1627G>C (p.Val543Leu)
c.2095G>C (p.Val699Leu)
c.2592G>C
c.*1480G>C (n.*1480G>C)
c.2155G>C (p.Val719Leu)
c.2377G>C (p.Val793Leu)
c.2167G>C (p.Val723Leu)
c.2317G>C (p.Val773Leu)
Xg.50090831G=CA2428770198CLCN5c.2305G= (p.Val769=)
c.1627G= (p.Val543=)
c.2095G= (p.Val699=)
c.2592G=
c.*1480G= (n.*1480G=)
c.2155G= (p.Val719=)
c.2377G= (p.Val793=)
c.2167G= (p.Val723=)
c.2317G= (p.Val773=)
Xg.50090831G>TCA413191284CLCN5c.2305G>T (p.Val769Leu)
c.1627G>T (p.Val543Leu)
c.2095G>T (p.Val699Leu)
c.2592G>T
c.*1480G>T (n.*1480G>T)
c.2155G>T (p.Val719Leu)
c.2377G>T (p.Val793Leu)
c.2167G>T (p.Val723Leu)
c.2317G>T (p.Val773Leu)
Xg.50090832T>ACA413191286CLCN5c.2306T>A (p.Val769Glu)
c.1628T>A (p.Val543Glu)
c.2096T>A (p.Val699Glu)
c.2593T>A
c.*1481T>A (n.*1481T>A)
c.2156T>A (p.Val719Glu)
c.2378T>A (p.Val793Glu)
c.2168T>A (p.Val723Glu)
c.2318T>A (p.Val773Glu)
Xg.50090832T>CCA413191288CLCN5c.2306T>C (p.Val769Ala)
c.1628T>C (p.Val543Ala)
c.2096T>C (p.Val699Ala)
c.2593T>C
c.*1481T>C (n.*1481T>C)
c.2156T>C (p.Val719Ala)
c.2378T>C (p.Val793Ala)
c.2168T>C (p.Val723Ala)
c.2318T>C (p.Val773Ala)
Xg.50090832T>GCA413191290CLCN5c.2306T>G (p.Val769Gly)
c.1628T>G (p.Val543Gly)
c.2096T>G (p.Val699Gly)
c.2593T>G
c.*1481T>G (n.*1481T>G)
c.2156T>G (p.Val719Gly)
c.2378T>G (p.Val793Gly)
c.2168T>G (p.Val723Gly)
c.2318T>G (p.Val773Gly)
Xg.50090833A>CCA516679418CLCN5c.2307A>C (p.Val769=)
c.1629A>C (p.Val543=)
c.2097A>C (p.Val699=)
c.2594A>C
c.*1482A>C (n.*1482A>C)
c.2157A>C (p.Val719=)
c.2379A>C (p.Val793=)
c.2169A>C (p.Val723=)
c.2319A>C (p.Val773=)
Xg.50090833A>GCA516679417CLCN5c.2307A>G (p.Val769=)
c.1629A>G (p.Val543=)
c.2097A>G (p.Val699=)
c.2594A>G
c.*1482A>G (n.*1482A>G)
c.2157A>G (p.Val719=)
c.2379A>G (p.Val793=)
c.2169A>G (p.Val723=)
c.2319A>G (p.Val773=)
 gnomAD v4
Xg.50090833A>TCA516679413CLCN5c.2307A>T (p.Val769=)
c.1629A>T (p.Val543=)
c.2097A>T (p.Val699=)
c.2594A>T
c.*1482A>T (n.*1482A>T)
c.2157A>T (p.Val719=)
c.2379A>T (p.Val793=)
c.2169A>T (p.Val723=)
c.2319A>T (p.Val773=)
Xg.50090834G>ACA413191293CLCN5c.2308G>A (p.Val770Met)
c.1630G>A (p.Val544Met)
c.2098G>A (p.Val700Met)
c.2595G>A
c.*1483G>A (n.*1483G>A)
c.2158G>A (p.Val720Met)
c.2380G>A (p.Val794Met)
c.2170G>A (p.Val724Met)
c.2320G>A (p.Val774Met)
Xg.50090834G>CCA413191295CLCN5c.2308G>C (p.Val770Leu)
c.1630G>C (p.Val544Leu)
c.2098G>C (p.Val700Leu)
c.2595G>C
c.*1483G>C (n.*1483G>C)
c.2158G>C (p.Val720Leu)
c.2380G>C (p.Val794Leu)
c.2170G>C (p.Val724Leu)
c.2320G>C (p.Val774Leu)
Xg.50090834G>TCA413191297CLCN5c.2308G>T (p.Val770Leu)
c.1630G>T (p.Val544Leu)
c.2098G>T (p.Val700Leu)
c.2595G>T
c.*1483G>T (n.*1483G>T)
c.2158G>T (p.Val720Leu)
c.2380G>T (p.Val794Leu)
c.2170G>T (p.Val724Leu)
c.2320G>T (p.Val774Leu)
Xg.50090835T>ACA413191306CLCN5c.2309T>A (p.Val770Glu)
c.1631T>A (p.Val544Glu)
c.2099T>A (p.Val700Glu)
c.2596T>A
c.*1484T>A (n.*1484T>A)
c.2159T>A (p.Val720Glu)
c.2381T>A (p.Val794Glu)
c.2171T>A (p.Val724Glu)
c.2321T>A (p.Val774Glu)
Xg.50090835T>CCA413191303CLCN5c.2309T>C (p.Val770Ala)
c.1631T>C (p.Val544Ala)
c.2099T>C (p.Val700Ala)
c.2596T>C
c.*1484T>C (n.*1484T>C)
c.2159T>C (p.Val720Ala)
c.2381T>C (p.Val794Ala)
c.2171T>C (p.Val724Ala)
c.2321T>C (p.Val774Ala)
Xg.50090835T>GCA413191302CLCN5c.2309T>G (p.Val770Gly)
c.1631T>G (p.Val544Gly)
c.2099T>G (p.Val700Gly)
c.2596T>G
c.*1484T>G (n.*1484T>G)
c.2159T>G (p.Val720Gly)
c.2381T>G (p.Val794Gly)
c.2171T>G (p.Val724Gly)
c.2321T>G (p.Val774Gly)
Xg.50090836G>ACA516679429CLCN5c.2310G>A (p.Val770=)
c.1632G>A (p.Val544=)
c.2100G>A (p.Val700=)
c.2597G>A
c.*1485G>A (n.*1485G>A)
c.2160G>A (p.Val720=)
c.2382G>A (p.Val794=)
c.2172G>A (p.Val724=)
c.2322G>A (p.Val774=)
 gnomAD v4
Xg.50090836G>CCA516679434CLCN5c.2310G>C (p.Val770=)
c.1632G>C (p.Val544=)
c.2100G>C (p.Val700=)
c.2597G>C
c.*1485G>C (n.*1485G>C)
c.2160G>C (p.Val720=)
c.2382G>C (p.Val794=)
c.2172G>C (p.Val724=)
c.2322G>C (p.Val774=)
Xg.50090836G>TCA516679433CLCN5c.2310G>T (p.Val770=)
c.1632G>T (p.Val544=)
c.2100G>T (p.Val700=)
c.2597G>T
c.*1485G>T (n.*1485G>T)
c.2160G>T (p.Val720=)
c.2382G>T (p.Val794=)
c.2172G>T (p.Val724=)
c.2322G>T (p.Val774=)
Xg.50090837G>ACA413191308CLCN5c.2311G>A (p.Asp771Asn)
c.1633G>A (p.Asp545Asn)
c.2101G>A (p.Asp701Asn)
c.2598G>A
c.*1486G>A (n.*1486G>A)
c.2161G>A (p.Asp721Asn)
c.2383G>A (p.Asp795Asn)
c.2173G>A (p.Asp725Asn)
c.2323G>A (p.Asp775Asn)
Xg.50090837G>CCA413191310CLCN5c.2311G>C (p.Asp771His)
c.1633G>C (p.Asp545His)
c.2101G>C (p.Asp701His)
c.2598G>C
c.*1486G>C (n.*1486G>C)
c.2161G>C (p.Asp721His)
c.2383G>C (p.Asp795His)
c.2173G>C (p.Asp725His)
c.2323G>C (p.Asp775His)
Xg.50090837G>TCA413191311CLCN5c.2311G>T (p.Asp771Tyr)
c.1633G>T (p.Asp545Tyr)
c.2101G>T (p.Asp701Tyr)
c.2598G>T
c.*1486G>T (n.*1486G>T)
c.2161G>T (p.Asp721Tyr)
c.2383G>T (p.Asp795Tyr)
c.2173G>T (p.Asp725Tyr)
c.2323G>T (p.Asp775Tyr)
Xg.50090838A=CA2428770199CLCN5c.2312A= (p.Asp771=)
c.1634A= (p.Asp545=)
c.2102A= (p.Asp701=)
c.2599A=
c.*1487A= (n.*1487A=)
c.2162A= (p.Asp721=)
c.2384A= (p.Asp795=)
c.2174A= (p.Asp725=)
c.2324A= (p.Asp775=)
Xg.50090838A>CCA413191315CLCN5c.2312A>C (p.Asp771Ala)
c.1634A>C (p.Asp545Ala)
c.2102A>C (p.Asp701Ala)
c.2599A>C
c.*1487A>C (n.*1487A>C)
c.2162A>C (p.Asp721Ala)
c.2384A>C (p.Asp795Ala)
c.2174A>C (p.Asp725Ala)
c.2324A>C (p.Asp775Ala)
Xg.50090838A>GCA413191317CLCN5c.2312A>G (p.Asp771Gly)
c.1634A>G (p.Asp545Gly)
c.2102A>G (p.Asp701Gly)
c.2599A>G
c.*1487A>G (n.*1487A>G)
c.2162A>G (p.Asp721Gly)
c.2384A>G (p.Asp795Gly)
c.2174A>G (p.Asp725Gly)
c.2324A>G (p.Asp775Gly)
 ClinVar dbSNP
Xg.50090838A>TCA413191319CLCN5c.2312A>T (p.Asp771Val)
c.1634A>T (p.Asp545Val)
c.2102A>T (p.Asp701Val)
c.2599A>T
c.*1487A>T (n.*1487A>T)
c.2162A>T (p.Asp721Val)
c.2384A>T (p.Asp795Val)
c.2174A>T (p.Asp725Val)
c.2324A>T (p.Asp775Val)
Xg.50090839T>ACA413191322CLCN5c.2313T>A (p.Asp771Glu)
c.1635T>A (p.Asp545Glu)
c.2103T>A (p.Asp701Glu)
c.2600T>A
c.*1488T>A (n.*1488T>A)
c.2163T>A (p.Asp721Glu)
c.2385T>A (p.Asp795Glu)
c.2175T>A (p.Asp725Glu)
c.2325T>A (p.Asp775Glu)
Xg.50090839T>CCA516679445CLCN5c.2313T>C (p.Asp771=)
c.1635T>C (p.Asp545=)
c.2103T>C (p.Asp701=)
c.2600T>C
c.*1488T>C (n.*1488T>C)
c.2163T>C (p.Asp721=)
c.2385T>C (p.Asp795=)
c.2175T>C (p.Asp725=)
c.2325T>C (p.Asp775=)
Xg.50090839T>GCA413191323CLCN5c.2313T>G (p.Asp771Glu)
c.1635T>G (p.Asp545Glu)
c.2103T>G (p.Asp701Glu)
c.2600T>G
c.*1488T>G (n.*1488T>G)
c.2163T>G (p.Asp721Glu)
c.2385T>G (p.Asp795Glu)
c.2175T>G (p.Asp725Glu)
c.2325T>G (p.Asp775Glu)
Xg.50090840A>CCA413191326CLCN5c.2314A>C (p.Ile772Leu)
c.1636A>C (p.Ile546Leu)
c.2104A>C (p.Ile702Leu)
c.2601A>C
c.*1489A>C (n.*1489A>C)
c.2164A>C (p.Ile722Leu)
c.2386A>C (p.Ile796Leu)
c.2176A>C (p.Ile726Leu)
c.2326A>C (p.Ile776Leu)
Xg.50090840A>GCA413191328CLCN5c.2314A>G (p.Ile772Val)
c.1636A>G (p.Ile546Val)
c.2104A>G (p.Ile702Val)
c.2601A>G
c.*1489A>G (n.*1489A>G)
c.2164A>G (p.Ile722Val)
c.2386A>G (p.Ile796Val)
c.2176A>G (p.Ile726Val)
c.2326A>G (p.Ile776Val)
Xg.50090840A>TCA413191330CLCN5c.2314A>T (p.Ile772Phe)
c.1636A>T (p.Ile546Phe)
c.2104A>T (p.Ile702Phe)
c.2601A>T
c.*1489A>T (n.*1489A>T)
c.2164A>T (p.Ile722Phe)
c.2386A>T (p.Ile796Phe)
c.2176A>T (p.Ile726Phe)
c.2326A>T (p.Ile776Phe)
Xg.50090841T>ACA413191333CLCN5c.2315T>A (p.Ile772Asn)
c.1637T>A (p.Ile546Asn)
c.2105T>A (p.Ile702Asn)
c.2602T>A
c.*1490T>A (n.*1490T>A)
c.2165T>A (p.Ile722Asn)
c.2387T>A (p.Ile796Asn)
c.2177T>A (p.Ile726Asn)
c.2327T>A (p.Ile776Asn)
Xg.50090841T>CCA413191335CLCN5c.2315T>C (p.Ile772Thr)
c.1637T>C (p.Ile546Thr)
c.2105T>C (p.Ile702Thr)
c.2602T>C
c.*1490T>C (n.*1490T>C)
c.2165T>C (p.Ile722Thr)
c.2387T>C (p.Ile796Thr)
c.2177T>C (p.Ile726Thr)
c.2327T>C (p.Ile776Thr)
Xg.50090841T>GCA413191337CLCN5c.2315T>G (p.Ile772Ser)
c.1637T>G (p.Ile546Ser)
c.2105T>G (p.Ile702Ser)
c.2602T>G
c.*1490T>G (n.*1490T>G)
c.2165T>G (p.Ile722Ser)
c.2387T>G (p.Ile796Ser)
c.2177T>G (p.Ile726Ser)
c.2327T>G (p.Ile776Ser)
Xg.50090843_50090844delCA2695233729CLCN5c.2317_2318del (p.Phe773ProfsTer?)
c.1639_1640del (p.Phe547ProfsTer?)
c.2107_2108del (p.Phe703ProfsTer?)
c.2604_2605del
c.*1492_*1493del (n.*1492_*1493del)
c.2167_2168del (p.Phe723ProfsTer?)
c.2389_2390del (p.Phe797ProfsTer?)
c.2179_2180del (p.Phe727ProfsTer?)
c.2329_2330del (p.Phe777ProfsTer?)
Xg.50090842T>ACA516679457CLCN5c.2316T>A (p.Ile772=)
c.1638T>A (p.Ile546=)
c.2106T>A (p.Ile702=)
c.2603T>A
c.*1491T>A (n.*1491T>A)
c.2166T>A (p.Ile722=)
c.2388T>A (p.Ile796=)
c.2178T>A (p.Ile726=)
c.2328T>A (p.Ile776=)
Xg.50090842T>CCA516679459CLCN5c.2316T>C (p.Ile772=)
c.1638T>C (p.Ile546=)
c.2106T>C (p.Ile702=)
c.2603T>C
c.*1491T>C (n.*1491T>C)
c.2166T>C (p.Ile722=)
c.2388T>C (p.Ile796=)
c.2178T>C (p.Ile726=)
c.2328T>C (p.Ile776=)
Xg.50090842T>GCA413191340CLCN5c.2316T>G (p.Ile772Met)
c.1638T>G (p.Ile546Met)
c.2106T>G (p.Ile702Met)
c.2603T>G
c.*1491T>G (n.*1491T>G)
c.2166T>G (p.Ile722Met)
c.2388T>G (p.Ile796Met)
c.2178T>G (p.Ile726Met)
c.2328T>G (p.Ile776Met)
Xg.50090843T>ACA413191342CLCN5c.2317T>A (p.Phe773Ile)
c.1639T>A (p.Phe547Ile)
c.2107T>A (p.Phe703Ile)
c.2604T>A
c.*1492T>A (n.*1492T>A)
c.2167T>A (p.Phe723Ile)
c.2389T>A (p.Phe797Ile)
c.2179T>A (p.Phe727Ile)
c.2329T>A (p.Phe777Ile)
Xg.50090843T>CCA413191344CLCN5c.2317T>C (p.Phe773Leu)
c.1639T>C (p.Phe547Leu)
c.2107T>C (p.Phe703Leu)
c.2604T>C
c.*1492T>C (n.*1492T>C)
c.2167T>C (p.Phe723Leu)
c.2389T>C (p.Phe797Leu)
c.2179T>C (p.Phe727Leu)
c.2329T>C (p.Phe777Leu)
Xg.50090843T>GCA413191347CLCN5c.2317T>G (p.Phe773Val)
c.1639T>G (p.Phe547Val)
c.2107T>G (p.Phe703Val)
c.2604T>G
c.*1492T>G (n.*1492T>G)
c.2167T>G (p.Phe723Val)
c.2389T>G (p.Phe797Val)
c.2179T>G (p.Phe727Val)
c.2329T>G (p.Phe777Val)
Xg.50090844T>ACA413191350CLCN5c.2318T>A (p.Phe773Tyr)
c.1640T>A (p.Phe547Tyr)
c.2108T>A (p.Phe703Tyr)
c.2605T>A
c.*1493T>A (n.*1493T>A)
c.2168T>A (p.Phe723Tyr)
c.2390T>A (p.Phe797Tyr)
c.2180T>A (p.Phe727Tyr)
c.2330T>A (p.Phe777Tyr)
Xg.50090844T>CCA413191352CLCN5c.2318T>C (p.Phe773Ser)
c.1640T>C (p.Phe547Ser)
c.2108T>C (p.Phe703Ser)
c.2605T>C
c.*1493T>C (n.*1493T>C)
c.2168T>C (p.Phe723Ser)
c.2390T>C (p.Phe797Ser)
c.2180T>C (p.Phe727Ser)
c.2330T>C (p.Phe777Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.50090844T>GCA413191354CLCN5c.2318T>G (p.Phe773Cys)
c.1640T>G (p.Phe547Cys)
c.2108T>G (p.Phe703Cys)
c.2605T>G
c.*1493T>G (n.*1493T>G)
c.2168T>G (p.Phe723Cys)
c.2390T>G (p.Phe797Cys)
c.2180T>G (p.Phe727Cys)
c.2330T>G (p.Phe777Cys)
Xg.50090844T=CA2428770200CLCN5c.2318T= (p.Phe773=)
c.1640T= (p.Phe547=)
c.2108T= (p.Phe703=)
c.2605T=
c.*1493T= (n.*1493T=)
c.2168T= (p.Phe723=)
c.2390T= (p.Phe797=)
c.2180T= (p.Phe727=)
c.2330T= (p.Phe777=)
Xg.50090845C>ACA413191357CLCN5c.2319C>A (p.Phe773Leu)
c.1641C>A (p.Phe547Leu)
c.2109C>A (p.Phe703Leu)
c.2606C>A
c.*1494C>A (n.*1494C>A)
c.2169C>A (p.Phe723Leu)
c.2391C>A (p.Phe797Leu)
c.2181C>A (p.Phe727Leu)
c.2331C>A (p.Phe777Leu)
Xg.50090845C>GCA413191359CLCN5c.2319C>G (p.Phe773Leu)
c.1641C>G (p.Phe547Leu)
c.2109C>G (p.Phe703Leu)
c.2606C>G
c.*1494C>G (n.*1494C>G)
c.2169C>G (p.Phe723Leu)
c.2391C>G (p.Phe797Leu)
c.2181C>G (p.Phe727Leu)
c.2331C>G (p.Phe777Leu)
Xg.50090845C>TCA516679472CLCN5c.2319C>T (p.Phe773=)
c.1641C>T (p.Phe547=)
c.2109C>T (p.Phe703=)
c.2606C>T
c.*1494C>T (n.*1494C>T)
c.2169C>T (p.Phe723=)
c.2391C>T (p.Phe797=)
c.2181C>T (p.Phe727=)
c.2331C>T (p.Phe777=)
Xg.50090846C>ACA516679473CLCN5c.2320C>A (p.Arg774=)
c.1642C>A (p.Arg548=)
c.2110C>A (p.Arg704=)
c.2607C>A
c.*1495C>A (n.*1495C>A)
c.2170C>A (p.Arg724=)
c.2392C>A (p.Arg798=)
c.2182C>A (p.Arg728=)
c.2332C>A (p.Arg778=)
Xg.50090846C=CA2428770201CLCN5c.2320C= (p.Arg774=)
c.1642C= (p.Arg548=)
c.2110C= (p.Arg704=)
c.2607C=
c.*1495C= (n.*1495C=)
c.2170C= (p.Arg724=)
c.2392C= (p.Arg798=)
c.2182C= (p.Arg728=)
c.2332C= (p.Arg778=)
Xg.50090846C>GCA413191362CLCN5c.2320C>G (p.Arg774Gly)
c.1642C>G (p.Arg548Gly)
c.2110C>G (p.Arg704Gly)
c.2607C>G
c.*1495C>G (n.*1495C>G)
c.2170C>G (p.Arg724Gly)
c.2392C>G (p.Arg798Gly)
c.2182C>G (p.Arg728Gly)
c.2332C>G (p.Arg778Gly)
Xg.50090846C>TCA121674CLCN5c.2320C>T (p.Arg774Ter)
c.1642C>T (p.Arg548Ter)
c.2110C>T (p.Arg704Ter)
c.2607C>T
c.*1495C>T (n.*1495C>T)
c.2170C>T (p.Arg724Ter)
c.2392C>T (p.Arg798Ter)
c.2182C>T (p.Arg728Ter)
c.2332C>T (p.Arg778Ter)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched