Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143350372A>CCA369652461CLCN1c.2404A>C (p.Ile802Leu)
c.2228A>C
n.2344A>C
c.2428A>C (p.Ile810Leu)
c.1150A>C (p.Ile384Leu)
c.1978A>C (p.Ile660Leu)
c.1954A>C (p.Ile652Leu)
n.2359A>C
7g.143350372A>GCA369652462CLCN1c.2404A>G (p.Ile802Val)
c.2228A>G
n.2344A>G
c.2428A>G (p.Ile810Val)
c.1150A>G (p.Ile384Val)
c.1978A>G (p.Ile660Val)
c.1954A>G (p.Ile652Val)
n.2359A>G
7g.143350372A>TCA369652463CLCN1c.2404A>T (p.Ile802Phe)
c.2228A>T
n.2344A>T
c.2428A>T (p.Ile810Phe)
c.1150A>T (p.Ile384Phe)
c.1978A>T (p.Ile660Phe)
c.1954A>T (p.Ile652Phe)
n.2359A>T
 gnomAD v4
7g.143350373T>ACA369652466CLCN1c.2405T>A (p.Ile802Asn)
c.2229T>A
n.2345T>A
c.2429T>A (p.Ile810Asn)
c.1151T>A (p.Ile384Asn)
c.1979T>A (p.Ile660Asn)
c.1955T>A (p.Ile652Asn)
n.2360T>A
7g.143350373T>CCA369652465CLCN1c.2405T>C (p.Ile802Thr)
c.2229T>C
n.2345T>C
c.2429T>C (p.Ile810Thr)
c.1151T>C (p.Ile384Thr)
c.1979T>C (p.Ile660Thr)
c.1955T>C (p.Ile652Thr)
n.2360T>C
7g.143350373T>GCA369652464CLCN1c.2405T>G (p.Ile802Ser)
c.2229T>G
n.2345T>G
c.2429T>G (p.Ile810Ser)
c.1151T>G (p.Ile384Ser)
c.1979T>G (p.Ile660Ser)
c.1955T>G (p.Ile652Ser)
n.2360T>G
7g.143350374T>ACA458286324CLCN1c.2406T>A (p.Ile802=)
c.2230T>A
n.2346T>A
c.2430T>A (p.Ile810=)
c.1152T>A (p.Ile384=)
c.1980T>A (p.Ile660=)
c.1956T>A (p.Ile652=)
n.2361T>A
7g.143350374T>CCA458286326CLCN1c.2406T>C (p.Ile802=)
c.2230T>C
n.2346T>C
c.2430T>C (p.Ile810=)
c.1152T>C (p.Ile384=)
c.1980T>C (p.Ile660=)
c.1956T>C (p.Ile652=)
n.2361T>C
 gnomAD v4
7g.143350374T>GCA369652467CLCN1c.2406T>G (p.Ile802Met)
c.2230T>G
n.2346T>G
c.2430T>G (p.Ile810Met)
c.1152T>G (p.Ile384Met)
c.1980T>G (p.Ile660Met)
c.1956T>G (p.Ile652Met)
n.2361T>G
7g.143350375G>ACA369652468CLCN1c.2407G>A (p.Glu803Lys)
c.2231G>A
n.2347G>A
c.2431G>A (p.Glu811Lys)
c.1153G>A (p.Glu385Lys)
c.1981G>A (p.Glu661Lys)
c.1957G>A (p.Glu653Lys)
n.2362G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143350375G>CCA369652469CLCN1c.2407G>C (p.Glu803Gln)
c.2231G>C
n.2347G>C
c.2431G>C (p.Glu811Gln)
c.1153G>C (p.Glu385Gln)
c.1981G>C (p.Glu661Gln)
c.1957G>C (p.Glu653Gln)
n.2362G>C
7g.143350375G=CA1748897618CLCN1c.2407G= (p.Glu803=)
c.2231G=
n.2347G=
c.2431G= (p.Glu811=)
c.1153G= (p.Glu385=)
c.1981G= (p.Glu661=)
c.1957G= (p.Glu653=)
n.2362G=
7g.143350375G>TCA369652470CLCN1c.2407G>T (p.Glu803Ter)
c.2231G>T
n.2347G>T
c.2431G>T (p.Glu811Ter)
c.1153G>T (p.Glu385Ter)
c.1981G>T (p.Glu661Ter)
c.1957G>T (p.Glu653Ter)
n.2362G>T
7g.143350376A>CCA369652471CLCN1c.2408A>C (p.Glu803Ala)
c.2232A>C
n.2348A>C
c.2432A>C (p.Glu811Ala)
c.1154A>C (p.Glu385Ala)
c.1982A>C (p.Glu661Ala)
c.1958A>C (p.Glu653Ala)
n.2363A>C
7g.143350376A>GCA369652472CLCN1c.2408A>G (p.Glu803Gly)
c.2232A>G
n.2348A>G
c.2432A>G (p.Glu811Gly)
c.1154A>G (p.Glu385Gly)
c.1982A>G (p.Glu661Gly)
c.1958A>G (p.Glu653Gly)
n.2363A>G
7g.143350376A>TCA369652473CLCN1c.2408A>T (p.Glu803Val)
c.2232A>T
n.2348A>T
c.2432A>T (p.Glu811Val)
c.1154A>T (p.Glu385Val)
c.1982A>T (p.Glu661Val)
c.1958A>T (p.Glu653Val)
n.2363A>T
 gnomAD v4
7g.143350377G>ACA4537683CLCN1c.2409G>A (p.Glu803=)
c.2233G>A
n.2349G>A
c.2433G>A (p.Glu811=)
c.1155G>A (p.Glu385=)
c.1983G>A (p.Glu661=)
c.1959G>A (p.Glu653=)
n.2364G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350377G>CCA369652474CLCN1c.2409G>C (p.Glu803Asp)
c.2233G>C
n.2349G>C
c.2433G>C (p.Glu811Asp)
c.1155G>C (p.Glu385Asp)
c.1983G>C (p.Glu661Asp)
c.1959G>C (p.Glu653Asp)
n.2364G>C
7g.143350377G=CA1748897619CLCN1c.2409G= (p.Glu803=)
c.2233G=
n.2349G=
c.2433G= (p.Glu811=)
c.1155G= (p.Glu385=)
c.1983G= (p.Glu661=)
c.1959G= (p.Glu653=)
n.2364G=
7g.143350377G>TCA369652475CLCN1c.2409G>T (p.Glu803Asp)
c.2233G>T
n.2349G>T
c.2433G>T (p.Glu811Asp)
c.1155G>T (p.Glu385Asp)
c.1983G>T (p.Glu661Asp)
c.1959G>T (p.Glu653Asp)
n.2364G>T
7g.143350378G>ACA369652476CLCN1c.2410G>A (p.Ala804Thr)
c.2234G>A
n.2350G>A
c.2434G>A (p.Ala812Thr)
c.1156G>A (p.Ala386Thr)
c.1984G>A (p.Ala662Thr)
c.1960G>A (p.Ala654Thr)
n.2365G>A
7g.143350378G>CCA369652477CLCN1c.2410G>C (p.Ala804Pro)
c.2234G>C
n.2350G>C
c.2434G>C (p.Ala812Pro)
c.1156G>C (p.Ala386Pro)
c.1984G>C (p.Ala662Pro)
c.1960G>C (p.Ala654Pro)
n.2365G>C
7g.143350378G>TCA369652478CLCN1c.2410G>T (p.Ala804Ser)
c.2234G>T
n.2350G>T
c.2434G>T (p.Ala812Ser)
c.1156G>T (p.Ala386Ser)
c.1984G>T (p.Ala662Ser)
c.1960G>T (p.Ala654Ser)
n.2365G>T
 gnomAD v4
7g.143350379C>ACA369652480CLCN1c.2411C>A (p.Ala804Asp)
c.2235C>A
n.2351C>A
c.2435C>A (p.Ala812Asp)
c.1157C>A (p.Ala386Asp)
c.1985C>A (p.Ala662Asp)
c.1961C>A (p.Ala654Asp)
n.2366C>A
7g.143350379C=CA1748897620CLCN1c.2411C= (p.Ala804=)
c.2235C=
n.2351C=
c.2435C= (p.Ala812=)
c.1157C= (p.Ala386=)
c.1985C= (p.Ala662=)
c.1961C= (p.Ala654=)
n.2366C=
7g.143350379C>GCA369652479CLCN1c.2411C>G (p.Ala804Gly)
c.2235C>G
n.2351C>G
c.2435C>G (p.Ala812Gly)
c.1157C>G (p.Ala386Gly)
c.1985C>G (p.Ala662Gly)
c.1961C>G (p.Ala654Gly)
n.2366C>G
7g.143350379C>TCA4537684CLCN1c.2411C>T (p.Ala804Val)
c.2235C>T
n.2351C>T
c.2435C>T (p.Ala812Val)
c.1157C>T (p.Ala386Val)
c.1985C>T (p.Ala662Val)
c.1961C>T (p.Ala654Val)
n.2366C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350380C>ACA458286368CLCN1c.2412C>A (p.Ala804=)
c.2236C>A
n.2352C>A
c.2436C>A (p.Ala812=)
c.1158C>A (p.Ala386=)
c.1986C>A (p.Ala662=)
c.1962C>A (p.Ala654=)
n.2367C>A
7g.143350380C>GCA458286356CLCN1c.2412C>G (p.Ala804=)
c.2236C>G
n.2352C>G
c.2436C>G (p.Ala812=)
c.1158C>G (p.Ala386=)
c.1986C>G (p.Ala662=)
c.1962C>G (p.Ala654=)
n.2367C>G
7g.143350380C>TCA458286358CLCN1c.2412C>T (p.Ala804=)
c.2236C>T
n.2352C>T
c.2436C>T (p.Ala812=)
c.1158C>T (p.Ala386=)
c.1986C>T (p.Ala662=)
c.1962C>T (p.Ala654=)
n.2367C>T
7g.143350381T>ACA369652481CLCN1c.2413T>A (p.Trp805Arg)
c.2237T>A
n.2353T>A
c.2437T>A (p.Trp813Arg)
c.1159T>A (p.Trp387Arg)
c.1987T>A (p.Trp663Arg)
c.1963T>A (p.Trp655Arg)
n.2368T>A
7g.143350381T>CCA369652482CLCN1c.2413T>C (p.Trp805Arg)
c.2237T>C
n.2353T>C
c.2437T>C (p.Trp813Arg)
c.1159T>C (p.Trp387Arg)
c.1987T>C (p.Trp663Arg)
c.1963T>C (p.Trp655Arg)
n.2368T>C
7g.143350381T>GCA369652483CLCN1c.2413T>G (p.Trp805Gly)
c.2237T>G
n.2353T>G
c.2437T>G (p.Trp813Gly)
c.1159T>G (p.Trp387Gly)
c.1987T>G (p.Trp663Gly)
c.1963T>G (p.Trp655Gly)
n.2368T>G
7g.143350382G>ACA369652484CLCN1c.2414G>A (p.Trp805Ter)
c.2238G>A
n.2354G>A
c.2438G>A (p.Trp813Ter)
c.1160G>A (p.Trp387Ter)
c.1988G>A (p.Trp663Ter)
c.1964G>A (p.Trp655Ter)
n.2369G>A
7g.143350382G>CCA369652485CLCN1c.2414G>C (p.Trp805Ser)
c.2238G>C
n.2354G>C
c.2438G>C (p.Trp813Ser)
c.1160G>C (p.Trp387Ser)
c.1988G>C (p.Trp663Ser)
c.1964G>C (p.Trp655Ser)
n.2369G>C
7g.143350382G=CA1748897621CLCN1c.2414G= (p.Trp805=)
c.2238G=
n.2354G=
c.2438G= (p.Trp813=)
c.1160G= (p.Trp387=)
c.1988G= (p.Trp663=)
c.1964G= (p.Trp655=)
n.2369G=
7g.143350382G>TCA369652486CLCN1c.2414G>T (p.Trp805Leu)
c.2238G>T
n.2354G>T
c.2438G>T (p.Trp813Leu)
c.1160G>T (p.Trp387Leu)
c.1988G>T (p.Trp663Leu)
c.1964G>T (p.Trp655Leu)
n.2369G>T
7g.143350383G>ACA369652487CLCN1c.2415G>A (p.Trp805Ter)
c.2239G>A
n.2355G>A
c.2439G>A (p.Trp813Ter)
c.1161G>A (p.Trp387Ter)
c.1989G>A (p.Trp663Ter)
c.1965G>A (p.Trp655Ter)
n.2370G>A
 dbSNP gnomAD v3 gnomAD v4
7g.143350383G>CCA369652488CLCN1c.2415G>C (p.Trp805Cys)
c.2239G>C
n.2355G>C
c.2439G>C (p.Trp813Cys)
c.1161G>C (p.Trp387Cys)
c.1989G>C (p.Trp663Cys)
c.1965G>C (p.Trp655Cys)
n.2370G>C
7g.143350383G=CA1748897622CLCN1c.2415G= (p.Trp805=)
c.2239G=
n.2355G=
c.2439G= (p.Trp813=)
c.1161G= (p.Trp387=)
c.1989G= (p.Trp663=)
c.1965G= (p.Trp655=)
n.2370G=
7g.143350383G>TCA369652489CLCN1c.2415G>T (p.Trp805Cys)
c.2239G>T
n.2355G>T
c.2439G>T (p.Trp813Cys)
c.1161G>T (p.Trp387Cys)
c.1989G>T (p.Trp663Cys)
c.1965G>T (p.Trp655Cys)
n.2370G>T
7g.143350390_143350395dupCA1108132881CLCN1c.2422_2427dup (p.Gln809_Leu810insGluGln)
c.2246_2251dup
n.2362_2367dup
c.2446_2451dup (p.Gln817_Leu818insGluGln)
c.1168_1173dup (p.Gln391_Leu392insGluGln)
c.1996_2001dup (p.Gln667_Leu668insGluGln)
c.1972_1977dup (p.Gln659_Leu660insGluGln)
n.2377_2382dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.143350384G>ACA369652490CLCN1c.2416G>A (p.Glu806Lys)
c.2240G>A
n.2356G>A
c.2440G>A (p.Glu814Lys)
c.1162G>A (p.Glu388Lys)
c.1990G>A (p.Glu664Lys)
c.1966G>A (p.Glu656Lys)
n.2371G>A
 COSMIC
7g.143350384G>CCA369652491CLCN1c.2416G>C (p.Glu806Gln)
c.2240G>C
n.2356G>C
c.2440G>C (p.Glu814Gln)
c.1162G>C (p.Glu388Gln)
c.1990G>C (p.Glu664Gln)
c.1966G>C (p.Glu656Gln)
n.2371G>C
7g.143350384G>TCA369652492CLCN1c.2416G>T (p.Glu806Ter)
c.2240G>T
n.2356G>T
c.2440G>T (p.Glu814Ter)
c.1162G>T (p.Glu388Ter)
c.1990G>T (p.Glu664Ter)
c.1966G>T (p.Glu656Ter)
n.2371G>T
7g.143350385A>CCA369652495CLCN1c.2417A>C (p.Glu806Ala)
c.2241A>C
n.2357A>C
c.2441A>C (p.Glu814Ala)
c.1163A>C (p.Glu388Ala)
c.1991A>C (p.Glu664Ala)
c.1967A>C (p.Glu656Ala)
n.2372A>C
7g.143350385A>GCA369652494CLCN1c.2417A>G (p.Glu806Gly)
c.2241A>G
n.2357A>G
c.2441A>G (p.Glu814Gly)
c.1163A>G (p.Glu388Gly)
c.1991A>G (p.Glu664Gly)
c.1967A>G (p.Glu656Gly)
n.2372A>G
7g.143350385A>TCA369652493CLCN1c.2417A>T (p.Glu806Val)
c.2241A>T
n.2357A>T
c.2441A>T (p.Glu814Val)
c.1163A>T (p.Glu388Val)
c.1991A>T (p.Glu664Val)
c.1967A>T (p.Glu656Val)
n.2372A>T
7g.143350386G>ACA458286389CLCN1c.2418G>A (p.Glu806=)
c.2242G>A
n.2358G>A
c.2442G>A (p.Glu814=)
c.1164G>A (p.Glu388=)
c.1992G>A (p.Glu664=)
c.1968G>A (p.Glu656=)
n.2373G>A
 ClinVar
7g.143350386G>CCA369652496CLCN1c.2418G>C (p.Glu806Asp)
c.2242G>C
n.2358G>C
c.2442G>C (p.Glu814Asp)
c.1164G>C (p.Glu388Asp)
c.1992G>C (p.Glu664Asp)
c.1968G>C (p.Glu656Asp)
n.2373G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched