Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143350588_143350591delinsCCTTCA1748897731CLCN1c.2529_2532delinsCCTT (p.Leu843=)
c.2353_2356delinsCCTT
n.2469_2472delinsCCTT
c.2553_2556delinsCCTT (p.Leu851=)
c.1275_1278delinsCCTT (p.Leu425=)
c.2103_2106delinsCCTT (p.Leu701=)
c.2079_2082delinsCCTT (p.Leu693=)
n.2484_2487delinsCCTT
7g.143350589_143350591delCA891842699CLCN1c.2530_2532del (p.Leu844del)
c.2354_2356del
n.2470_2472del
c.2554_2556del (p.Leu852del)
c.1276_1278del (p.Leu426del)
c.2104_2106del (p.Leu702del)
c.2080_2082del (p.Leu694del)
n.2485_2487del
 ClinVar dbSNP
7g.143350591T>ACA458288692CLCN1c.2532T>A (p.Leu844=)
c.2356T>A
n.2472T>A
c.2556T>A (p.Leu852=)
c.1278T>A (p.Leu426=)
c.2106T>A (p.Leu702=)
c.2082T>A (p.Leu694=)
n.2487T>A
7g.143350591T>CCA458288694CLCN1c.2532T>C (p.Leu844=)
c.2356T>C
n.2472T>C
c.2556T>C (p.Leu852=)
c.1278T>C (p.Leu426=)
c.2106T>C (p.Leu702=)
c.2082T>C (p.Leu694=)
n.2487T>C
 ClinVar gnomAD v4
7g.143350591T>GCA458288697CLCN1c.2532T>G (p.Leu844=)
c.2356T>G
n.2472T>G
c.2556T>G (p.Leu852=)
c.1278T>G (p.Leu426=)
c.2106T>G (p.Leu702=)
c.2082T>G (p.Leu694=)
n.2487T>G
 dbSNP gnomAD v3 gnomAD v4
7g.143350591T=CA1748897733CLCN1c.2532T= (p.Leu844=)
c.2356T=
n.2472T=
c.2556T= (p.Leu852=)
c.1278T= (p.Leu426=)
c.2106T= (p.Leu702=)
c.2082T= (p.Leu694=)
n.2487T=
7g.143350592G>ACA4537723CLCN1c.2533G>A (p.Gly845Ser)
c.2357G>A
n.2473G>A
c.2557G>A (p.Gly853Ser)
c.1279G>A (p.Gly427Ser)
c.2107G>A (p.Gly703Ser)
c.2083G>A (p.Gly695Ser)
n.2488G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143350592G>CCA4537724CLCN1c.2533G>C (p.Gly845Arg)
c.2357G>C
n.2473G>C
c.2557G>C (p.Gly853Arg)
c.1279G>C (p.Gly427Arg)
c.2107G>C (p.Gly703Arg)
c.2083G>C (p.Gly695Arg)
n.2488G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350592G=CA1748897734CLCN1c.2533G= (p.Gly845=)
c.2357G=
n.2473G=
c.2557G= (p.Gly853=)
c.1279G= (p.Gly427=)
c.2107G= (p.Gly703=)
c.2083G= (p.Gly695=)
n.2488G=
7g.143350592G>TCA369653174CLCN1c.2533G>T (p.Gly845Cys)
c.2357G>T
n.2473G>T
c.2557G>T (p.Gly853Cys)
c.1279G>T (p.Gly427Cys)
c.2107G>T (p.Gly703Cys)
c.2083G>T (p.Gly695Cys)
n.2488G>T
7g.143350593G>ACA369653176CLCN1c.2534G>A (p.Gly845Asp)
c.2358G>A
n.2474G>A
c.2558G>A (p.Gly853Asp)
c.1280G>A (p.Gly427Asp)
c.2108G>A (p.Gly703Asp)
c.2084G>A (p.Gly695Asp)
n.2489G>A
7g.143350593G>CCA369653177CLCN1c.2534G>C (p.Gly845Ala)
c.2358G>C
n.2474G>C
c.2558G>C (p.Gly853Ala)
c.1280G>C (p.Gly427Ala)
c.2108G>C (p.Gly703Ala)
c.2084G>C (p.Gly695Ala)
n.2489G>C
7g.143350593G>TCA369653179CLCN1c.2534G>T (p.Gly845Val)
c.2358G>T
n.2474G>T
c.2558G>T (p.Gly853Val)
c.1280G>T (p.Gly427Val)
c.2108G>T (p.Gly703Val)
c.2084G>T (p.Gly695Val)
n.2489G>T
7g.143350594C>ACA458288712CLCN1c.2535C>A (p.Gly845=)
c.2359C>A
n.2475C>A
c.2559C>A (p.Gly853=)
c.1281C>A (p.Gly427=)
c.2109C>A (p.Gly703=)
c.2085C>A (p.Gly695=)
n.2490C>A
 gnomAD v4
7g.143350594C=CA1748897735CLCN1c.2535C= (p.Gly845=)
c.2359C=
n.2475C=
c.2559C= (p.Gly853=)
c.1281C= (p.Gly427=)
c.2109C= (p.Gly703=)
c.2085C= (p.Gly695=)
n.2490C=
7g.143350594C>GCA458288713CLCN1c.2535C>G (p.Gly845=)
c.2359C>G
n.2475C>G
c.2559C>G (p.Gly853=)
c.1281C>G (p.Gly427=)
c.2109C>G (p.Gly703=)
c.2085C>G (p.Gly695=)
n.2490C>G
7g.143350594C>TCA458288716CLCN1c.2535C>T (p.Gly845=)
c.2359C>T
n.2475C>T
c.2559C>T (p.Gly853=)
c.1281C>T (p.Gly427=)
c.2109C>T (p.Gly703=)
c.2085C>T (p.Gly695=)
n.2490C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.143350595C>ACA369653185CLCN1c.2536C>A (p.Leu846Ile)
c.2360C>A
n.2476C>A
c.2560C>A (p.Leu854Ile)
c.1282C>A (p.Leu428Ile)
c.2110C>A (p.Leu704Ile)
c.2086C>A (p.Leu696Ile)
n.2491C>A
7g.143350595C>GCA369653183CLCN1c.2536C>G (p.Leu846Val)
c.2360C>G
n.2476C>G
c.2560C>G (p.Leu854Val)
c.1282C>G (p.Leu428Val)
c.2110C>G (p.Leu704Val)
c.2086C>G (p.Leu696Val)
n.2491C>G
7g.143350595C>TCA369653181CLCN1c.2536C>T (p.Leu846Phe)
c.2360C>T
n.2476C>T
c.2560C>T (p.Leu854Phe)
c.1282C>T (p.Leu428Phe)
c.2110C>T (p.Leu704Phe)
c.2086C>T (p.Leu696Phe)
n.2491C>T
7g.143350596T>ACA369653187CLCN1c.2537T>A (p.Leu846His)
c.2361T>A
n.2477T>A
c.2561T>A (p.Leu854His)
c.1283T>A (p.Leu428His)
c.2111T>A (p.Leu704His)
c.2087T>A (p.Leu696His)
n.2492T>A
7g.143350596T>CCA369653188CLCN1c.2537T>C (p.Leu846Pro)
c.2361T>C
n.2477T>C
c.2561T>C (p.Leu854Pro)
c.1283T>C (p.Leu428Pro)
c.2111T>C (p.Leu704Pro)
c.2087T>C (p.Leu696Pro)
n.2492T>C
7g.143350596T>GCA369653189CLCN1c.2537T>G (p.Leu846Arg)
c.2361T>G
n.2477T>G
c.2561T>G (p.Leu854Arg)
c.1283T>G (p.Leu428Arg)
c.2111T>G (p.Leu704Arg)
c.2087T>G (p.Leu696Arg)
n.2492T>G
7g.143350597C>ACA458288727CLCN1c.2538C>A (p.Leu846=)
c.2362C>A
n.2478C>A
c.2562C>A (p.Leu854=)
c.1284C>A (p.Leu428=)
c.2112C>A (p.Leu704=)
c.2088C>A (p.Leu696=)
n.2493C>A
7g.143350597C=CA1748897736CLCN1c.2538C= (p.Leu846=)
c.2362C=
n.2478C=
c.2562C= (p.Leu854=)
c.1284C= (p.Leu428=)
c.2112C= (p.Leu704=)
c.2088C= (p.Leu696=)
n.2493C=
7g.143350597C>GCA458288728CLCN1c.2538C>G (p.Leu846=)
c.2362C>G
n.2478C>G
c.2562C>G (p.Leu854=)
c.1284C>G (p.Leu428=)
c.2112C>G (p.Leu704=)
c.2088C>G (p.Leu696=)
n.2493C>G
7g.143350597C>TCA458288729CLCN1c.2538C>T (p.Leu846=)
c.2362C>T
n.2478C>T
c.2562C>T (p.Leu854=)
c.1284C>T (p.Leu428=)
c.2112C>T (p.Leu704=)
c.2088C>T (p.Leu696=)
n.2493C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143350598C>ACA369653190CLCN1c.2539C>A (p.His847Asn)
c.2363C>A
n.2479C>A
c.2563C>A (p.His855Asn)
c.1285C>A (p.His429Asn)
c.2113C>A (p.His705Asn)
c.2089C>A (p.His697Asn)
n.2494C>A
7g.143350598C=CA1748897737CLCN1c.2539C= (p.His847=)
c.2363C=
n.2479C=
c.2563C= (p.His855=)
c.1285C= (p.His429=)
c.2113C= (p.His705=)
c.2089C= (p.His697=)
n.2494C=
7g.143350598C>GCA369653192CLCN1c.2539C>G (p.His847Asp)
c.2363C>G
n.2479C>G
c.2563C>G (p.His855Asp)
c.1285C>G (p.His429Asp)
c.2113C>G (p.His705Asp)
c.2089C>G (p.His697Asp)
n.2494C>G
7g.143350598C>TCA4537725CLCN1c.2539C>T (p.His847Tyr)
c.2363C>T
n.2479C>T
c.2563C>T (p.His855Tyr)
c.1285C>T (p.His429Tyr)
c.2113C>T (p.His705Tyr)
c.2089C>T (p.His697Tyr)
n.2494C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350599A>CCA369653194CLCN1c.2540A>C (p.His847Pro)
c.2364A>C
n.2480A>C
c.2564A>C (p.His855Pro)
c.1286A>C (p.His429Pro)
c.2114A>C (p.His705Pro)
c.2090A>C (p.His697Pro)
n.2495A>C
7g.143350599A>GCA369653195CLCN1c.2540A>G (p.His847Arg)
c.2364A>G
n.2480A>G
c.2564A>G (p.His855Arg)
c.1286A>G (p.His429Arg)
c.2114A>G (p.His705Arg)
c.2090A>G (p.His697Arg)
n.2495A>G
7g.143350599A>TCA369653196CLCN1c.2540A>T (p.His847Leu)
c.2364A>T
n.2480A>T
c.2564A>T (p.His855Leu)
c.1286A>T (p.His429Leu)
c.2114A>T (p.His705Leu)
c.2090A>T (p.His697Leu)
n.2495A>T
 gnomAD v4
7g.143350600C>ACA369653199CLCN1c.2541C>A (p.His847Gln)
c.2365C>A
n.2481C>A
c.2565C>A (p.His855Gln)
c.1287C>A (p.His429Gln)
c.2115C>A (p.His705Gln)
c.2091C>A (p.His697Gln)
n.2496C>A
7g.143350600C=CA1748897738CLCN1c.2541C= (p.His847=)
c.2365C=
n.2481C=
c.2565C= (p.His855=)
c.1287C= (p.His429=)
c.2115C= (p.His705=)
c.2091C= (p.His697=)
n.2496C=
7g.143350600C>GCA4537727CLCN1c.2541C>G (p.His847Gln)
c.2365C>G
n.2481C>G
c.2565C>G (p.His855Gln)
c.1287C>G (p.His429Gln)
c.2115C>G (p.His705Gln)
c.2091C>G (p.His697Gln)
n.2496C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143350600C>TCA4537726CLCN1c.2541C>T (p.His847=)
c.2365C>T
n.2481C>T
c.2565C>T (p.His855=)
c.1287C>T (p.His429=)
c.2115C>T (p.His705=)
c.2091C>T (p.His697=)
n.2496C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350601C>ACA369653201CLCN1c.2542C>A (p.Leu848Ile)
c.2366C>A
n.2482C>A
c.2566C>A (p.Leu856Ile)
c.1288C>A (p.Leu430Ile)
c.2116C>A (p.Leu706Ile)
c.2092C>A (p.Leu698Ile)
n.2497C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143350601C=CA1748897739CLCN1c.2542C= (p.Leu848=)
c.2366C=
n.2482C=
c.2566C= (p.Leu856=)
c.1288C= (p.Leu430=)
c.2116C= (p.Leu706=)
c.2092C= (p.Leu698=)
n.2497C=
7g.143350601C>GCA369653203CLCN1c.2542C>G (p.Leu848Val)
c.2366C>G
n.2482C>G
c.2566C>G (p.Leu856Val)
c.1288C>G (p.Leu430Val)
c.2116C>G (p.Leu706Val)
c.2092C>G (p.Leu698Val)
n.2497C>G
 ClinVar
7g.143350601C>TCA369653202CLCN1c.2542C>T (p.Leu848Phe)
c.2366C>T
n.2482C>T
c.2566C>T (p.Leu856Phe)
c.1288C>T (p.Leu430Phe)
c.2116C>T (p.Leu706Phe)
c.2092C>T (p.Leu698Phe)
n.2497C>T
 dbSNP
7g.143350602T>ACA369653204CLCN1c.2543T>A (p.Leu848His)
c.2367T>A
n.2483T>A
c.2567T>A (p.Leu856His)
c.1289T>A (p.Leu430His)
c.2117T>A (p.Leu706His)
c.2093T>A (p.Leu698His)
n.2498T>A
7g.143350602T>CCA369653207CLCN1c.2543T>C (p.Leu848Pro)
c.2367T>C
n.2483T>C
c.2567T>C (p.Leu856Pro)
c.1289T>C (p.Leu430Pro)
c.2117T>C (p.Leu706Pro)
c.2093T>C (p.Leu698Pro)
n.2498T>C
 dbSNP gnomAD v3 gnomAD v4
7g.143350602T>GCA369653206CLCN1c.2543T>G (p.Leu848Arg)
c.2367T>G
n.2483T>G
c.2567T>G (p.Leu856Arg)
c.1289T>G (p.Leu430Arg)
c.2117T>G (p.Leu706Arg)
c.2093T>G (p.Leu698Arg)
n.2498T>G
7g.143350602T=CA1748897740CLCN1c.2543T= (p.Leu848=)
c.2367T=
n.2483T=
c.2567T= (p.Leu856=)
c.1289T= (p.Leu430=)
c.2117T= (p.Leu706=)
c.2093T= (p.Leu698=)
n.2498T=
7g.143350603C>ACA458288752CLCN1c.2544C>A (p.Leu848=)
c.2368C>A
n.2484C>A
c.2568C>A (p.Leu856=)
c.1290C>A (p.Leu430=)
c.2118C>A (p.Leu706=)
c.2094C>A (p.Leu698=)
n.2499C>A
7g.143350603C=CA1748897741CLCN1c.2544C= (p.Leu848=)
c.2368C=
n.2484C=
c.2568C= (p.Leu856=)
c.1290C= (p.Leu430=)
c.2118C= (p.Leu706=)
c.2094C= (p.Leu698=)
n.2499C=
7g.143350603C>GCA458288754CLCN1c.2544C>G (p.Leu848=)
c.2368C>G
n.2484C>G
c.2568C>G (p.Leu856=)
c.1290C>G (p.Leu430=)
c.2118C>G (p.Leu706=)
c.2094C>G (p.Leu698=)
n.2499C>G
7g.143350603C>TCA4537728CLCN1c.2544C>T (p.Leu848=)
c.2368C>T
n.2484C>T
c.2568C>T (p.Leu856=)
c.1290C>T (p.Leu430=)
c.2118C>T (p.Leu706=)
c.2094C>T (p.Leu698=)
n.2499C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350604G>ACA4537729CLCN1c.2545G>A (p.Ala849Thr)
c.2369G>A
n.2485G>A
c.2569G>A (p.Ala857Thr)
c.1291G>A (p.Ala431Thr)
c.2119G>A (p.Ala707Thr)
c.2095G>A (p.Ala699Thr)
n.2500G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143350604G>CCA369653208CLCN1c.2545G>C (p.Ala849Pro)
c.2369G>C
n.2485G>C
c.2569G>C (p.Ala857Pro)
c.1291G>C (p.Ala431Pro)
c.2119G>C (p.Ala707Pro)
c.2095G>C (p.Ala699Pro)
n.2500G>C
 gnomAD v4
7g.143350604G=CA1748897742CLCN1c.2545G= (p.Ala849=)
c.2369G=
n.2485G=
c.2569G= (p.Ala857=)
c.1291G= (p.Ala431=)
c.2119G= (p.Ala707=)
c.2095G= (p.Ala699=)
n.2500G=
7g.143350604G>TCA369653209CLCN1c.2545G>T (p.Ala849Ser)
c.2369G>T
n.2485G>T
c.2569G>T (p.Ala857Ser)
c.1291G>T (p.Ala431Ser)
c.2119G>T (p.Ala707Ser)
c.2095G>T (p.Ala699Ser)
n.2500G>T
 dbSNP
7g.143350605C>ACA369653211CLCN1c.2546C>A (p.Ala849Asp)
c.2370C>A
n.2486C>A
c.2570C>A (p.Ala857Asp)
c.1292C>A (p.Ala431Asp)
c.2120C>A (p.Ala707Asp)
c.2096C>A (p.Ala699Asp)
n.2501C>A
7g.143350605C>GCA369653212CLCN1c.2546C>G (p.Ala849Gly)
c.2370C>G
n.2486C>G
c.2570C>G (p.Ala857Gly)
c.1292C>G (p.Ala431Gly)
c.2120C>G (p.Ala707Gly)
c.2096C>G (p.Ala699Gly)
n.2501C>G
7g.143350605C>TCA369653214CLCN1c.2546C>T (p.Ala849Val)
c.2370C>T
n.2486C>T
c.2570C>T (p.Ala857Val)
c.1292C>T (p.Ala431Val)
c.2120C>T (p.Ala707Val)
c.2096C>T (p.Ala699Val)
n.2501C>T
7g.143350606T>ACA458288770CLCN1c.2547T>A (p.Ala849=)
c.2371T>A
n.2487T>A
c.2571T>A (p.Ala857=)
c.1293T>A (p.Ala431=)
c.2121T>A (p.Ala707=)
c.2097T>A (p.Ala699=)
n.2502T>A
7g.143350606T>CCA458288767CLCN1c.2547T>C (p.Ala849=)
c.2371T>C
n.2487T>C
c.2571T>C (p.Ala857=)
c.1293T>C (p.Ala431=)
c.2121T>C (p.Ala707=)
c.2097T>C (p.Ala699=)
n.2502T>C
7g.143350606T>GCA458288768CLCN1c.2547T>G (p.Ala849=)
c.2371T>G
n.2487T>G
c.2571T>G (p.Ala857=)
c.1293T>G (p.Ala431=)
c.2121T>G (p.Ala707=)
c.2097T>G (p.Ala699=)
n.2502T>G
7g.143350607T>ACA369653216CLCN1c.2548T>A (p.Tyr850Asn)
c.2372T>A
n.2488T>A
c.2572T>A (p.Tyr858Asn)
c.1294T>A (p.Tyr432Asn)
c.2122T>A (p.Tyr708Asn)
c.2098T>A (p.Tyr700Asn)
n.2503T>A
7g.143350607T>CCA369653217CLCN1c.2548T>C (p.Tyr850His)
c.2372T>C
n.2488T>C
c.2572T>C (p.Tyr858His)
c.1294T>C (p.Tyr432His)
c.2122T>C (p.Tyr708His)
c.2098T>C (p.Tyr700His)
n.2503T>C
7g.143350607T>GCA168230717CLCN1c.2548T>G (p.Tyr850Asp)
c.2372T>G
n.2488T>G
c.2572T>G (p.Tyr858Asp)
c.1294T>G (p.Tyr432Asp)
c.2122T>G (p.Tyr708Asp)
c.2098T>G (p.Tyr700Asp)
n.2503T>G
 dbSNP
7g.143350607T=CA1748897743CLCN1c.2548T= (p.Tyr850=)
c.2372T=
n.2488T=
c.2572T= (p.Tyr858=)
c.1294T= (p.Tyr432=)
c.2122T= (p.Tyr708=)
c.2098T= (p.Tyr700=)
n.2503T=
7g.143350608A>CCA369653219CLCN1c.2549A>C (p.Tyr850Ser)
c.2373A>C
n.2489A>C
c.2573A>C (p.Tyr858Ser)
c.1295A>C (p.Tyr432Ser)
c.2123A>C (p.Tyr708Ser)
c.2099A>C (p.Tyr700Ser)
n.2504A>C
7g.143350608A>GCA369653221CLCN1c.2549A>G (p.Tyr850Cys)
c.2373A>G
n.2489A>G
c.2573A>G (p.Tyr858Cys)
c.1295A>G (p.Tyr432Cys)
c.2123A>G (p.Tyr708Cys)
c.2099A>G (p.Tyr700Cys)
n.2504A>G
7g.143350608A>TCA369653223CLCN1c.2549A>T (p.Tyr850Phe)
c.2373A>T
n.2489A>T
c.2573A>T (p.Tyr858Phe)
c.1295A>T (p.Tyr432Phe)
c.2123A>T (p.Tyr708Phe)
c.2099A>T (p.Tyr700Phe)
n.2504A>T
 gnomAD v4
7g.143350609C>ACA369653224CLCN1c.2550C>A (p.Tyr850Ter)
c.2374C>A
n.2490C>A
c.2574C>A (p.Tyr858Ter)
c.1296C>A (p.Tyr432Ter)
c.2124C>A (p.Tyr708Ter)
c.2100C>A (p.Tyr700Ter)
n.2505C>A
 ClinVar
7g.143350609C=CA1748897744CLCN1c.2550C= (p.Tyr850=)
c.2374C=
n.2490C=
c.2574C= (p.Tyr858=)
c.1296C= (p.Tyr432=)
c.2124C= (p.Tyr708=)
c.2100C= (p.Tyr700=)
n.2505C=
7g.143350609C>GCA369653227CLCN1c.2550C>G (p.Tyr850Ter)
c.2374C>G
n.2490C>G
c.2574C>G (p.Tyr858Ter)
c.1296C>G (p.Tyr432Ter)
c.2124C>G (p.Tyr708Ter)
c.2100C>G (p.Tyr700Ter)
n.2505C>G
7g.143350609C>TCA4537730CLCN1c.2550C>T (p.Tyr850=)
c.2374C>T
n.2490C>T
c.2574C>T (p.Tyr858=)
c.1296C>T (p.Tyr432=)
c.2124C>T (p.Tyr708=)
c.2100C>T (p.Tyr700=)
n.2505C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143350610_143350615delCA2685380758CLCN1c.2551_2556del (p.Val851_Thr852del)
c.2375_2380del
n.2491_2496del
c.2575_2580del (p.Val859_Thr860del)
c.1297_1302del (p.Val433_Thr434del)
c.2125_2130del (p.Val709_Thr710del)
c.2101_2106del (p.Val701_Thr702del)
n.2506_2511del
 gnomAD v4
7g.143350610G>ACA4537731CLCN1c.2551G>A (p.Val851Met)
c.2375G>A
n.2491G>A
c.2575G>A (p.Val859Met)
c.1297G>A (p.Val433Met)
c.2125G>A (p.Val709Met)
c.2101G>A (p.Val701Met)
n.2506G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350610G>CCA369653229CLCN1c.2551G>C (p.Val851Leu)
c.2375G>C
n.2491G>C
c.2575G>C (p.Val859Leu)
c.1297G>C (p.Val433Leu)
c.2125G>C (p.Val709Leu)
c.2101G>C (p.Val701Leu)
n.2506G>C
7g.143350610G=CA1748897745CLCN1c.2551G= (p.Val851=)
c.2375G=
n.2491G=
c.2575G= (p.Val859=)
c.1297G= (p.Val433=)
c.2125G= (p.Val709=)
c.2101G= (p.Val701=)
n.2506G=
7g.143350610G>TCA369653231CLCN1c.2551G>T (p.Val851Leu)
c.2375G>T
n.2491G>T
c.2575G>T (p.Val859Leu)
c.1297G>T (p.Val433Leu)
c.2125G>T (p.Val709Leu)
c.2101G>T (p.Val701Leu)
n.2506G>T
7g.143350611T>ACA369653233CLCN1c.2552T>A (p.Val851Glu)
c.2376T>A
n.2492T>A
c.2576T>A (p.Val859Glu)
c.1298T>A (p.Val433Glu)
c.2126T>A (p.Val709Glu)
c.2102T>A (p.Val701Glu)
n.2507T>A
7g.143350611T>CCA369653235CLCN1c.2552T>C (p.Val851Ala)
c.2376T>C
n.2492T>C
c.2576T>C (p.Val859Ala)
c.1298T>C (p.Val433Ala)
c.2126T>C (p.Val709Ala)
c.2102T>C (p.Val701Ala)
n.2507T>C
7g.143350611T>GCA369653236CLCN1c.2552T>G (p.Val851Gly)
c.2376T>G
n.2492T>G
c.2576T>G (p.Val859Gly)
c.1298T>G (p.Val433Gly)
c.2126T>G (p.Val709Gly)
c.2102T>G (p.Val701Gly)
n.2507T>G
7g.143350612G>ACA458288801CLCN1c.2553G>A (p.Val851=)
c.2377G>A
n.2493G>A
c.2577G>A (p.Val859=)
c.1299G>A (p.Val433=)
c.2127G>A (p.Val709=)
c.2103G>A (p.Val701=)
n.2508G>A
7g.143350612G>CCA458288803CLCN1c.2553G>C (p.Val851=)
c.2377G>C
n.2493G>C
c.2577G>C (p.Val859=)
c.1299G>C (p.Val433=)
c.2127G>C (p.Val709=)
c.2103G>C (p.Val701=)
n.2508G>C
 gnomAD v4
7g.143350612G=CA1748897746CLCN1c.2553G= (p.Val851=)
c.2377G=
n.2493G=
c.2577G= (p.Val859=)
c.1299G= (p.Val433=)
c.2127G= (p.Val709=)
c.2103G= (p.Val701=)
n.2508G=
7g.143350612G>TCA458288805CLCN1c.2553G>T (p.Val851=)
c.2377G>T
n.2493G>T
c.2577G>T (p.Val859=)
c.1299G>T (p.Val433=)
c.2127G>T (p.Val709=)
c.2103G>T (p.Val701=)
n.2508G>T
 dbSNP gnomAD v3 gnomAD v4
7g.143350613A>CCA369653239CLCN1c.2554A>C (p.Thr852Pro)
c.2378A>C
n.2494A>C
c.2578A>C (p.Thr860Pro)
c.1300A>C (p.Thr434Pro)
c.2128A>C (p.Thr710Pro)
c.2104A>C (p.Thr702Pro)
n.2509A>C
7g.143350613A>GCA369653240CLCN1c.2554A>G (p.Thr852Ala)
c.2378A>G
n.2494A>G
c.2578A>G (p.Thr860Ala)
c.1300A>G (p.Thr434Ala)
c.2128A>G (p.Thr710Ala)
c.2104A>G (p.Thr702Ala)
n.2509A>G
7g.143350613A>TCA369653241CLCN1c.2554A>T (p.Thr852Ser)
c.2378A>T
n.2494A>T
c.2578A>T (p.Thr860Ser)
c.1300A>T (p.Thr434Ser)
c.2128A>T (p.Thr710Ser)
c.2104A>T (p.Thr702Ser)
n.2509A>T
7g.143350614C>ACA369653244CLCN1c.2555C>A (p.Thr852Asn)
c.2379C>A
n.2495C>A
c.2579C>A (p.Thr860Asn)
c.1301C>A (p.Thr434Asn)
c.2129C>A (p.Thr710Asn)
c.2105C>A (p.Thr702Asn)
n.2510C>A
7g.143350614C>GCA369653243CLCN1c.2555C>G (p.Thr852Ser)
c.2379C>G
n.2495C>G
c.2579C>G (p.Thr860Ser)
c.1301C>G (p.Thr434Ser)
c.2129C>G (p.Thr710Ser)
c.2105C>G (p.Thr702Ser)
n.2510C>G
7g.143350614C>TCA369653242CLCN1c.2555C>T (p.Thr852Ile)
c.2379C>T
n.2495C>T
c.2579C>T (p.Thr860Ile)
c.1301C>T (p.Thr434Ile)
c.2129C>T (p.Thr710Ile)
c.2105C>T (p.Thr702Ile)
n.2510C>T
 ClinVar
7g.143350614_143350615delinsAGCA645545734CLCN1c.2555_2556delinsAG (p.Thr852Lys)
c.2379_2380delinsAG
n.2495_2496delinsAG
c.2579_2580delinsAG (p.Thr860Lys)
c.1301_1302delinsAG (p.Thr434Lys)
c.2129_2130delinsAG (p.Thr710Lys)
c.2105_2106delinsAG (p.Thr702Lys)
n.2510_2511delinsAG
 COSMIC
7g.143350615C>ACA458288819CLCN1c.2556C>A (p.Thr852=)
c.2380C>A
n.2496C>A
c.2580C>A (p.Thr860=)
c.1302C>A (p.Thr434=)
c.2130C>A (p.Thr710=)
c.2106C>A (p.Thr702=)
n.2511C>A
7g.143350615C=CA1748897747CLCN1c.2556C= (p.Thr852=)
c.2380C=
n.2496C=
c.2580C= (p.Thr860=)
c.1302C= (p.Thr434=)
c.2130C= (p.Thr710=)
c.2106C= (p.Thr702=)
n.2511C=
7g.143350615C>GCA458288821CLCN1c.2556C>G (p.Thr852=)
c.2380C>G
n.2496C>G
c.2580C>G (p.Thr860=)
c.1302C>G (p.Thr434=)
c.2130C>G (p.Thr710=)
c.2106C>G (p.Thr702=)
n.2511C>G
 dbSNP
7g.143350615C>TCA458288823CLCN1c.2556C>T (p.Thr852=)
c.2380C>T
n.2496C>T
c.2580C>T (p.Thr860=)
c.1302C>T (p.Thr434=)
c.2130C>T (p.Thr710=)
c.2106C>T (p.Thr702=)
n.2511C>T
 dbSNP gnomAD v4
7g.143350616A>CCA369653246CLCN1c.2557A>C (p.Ser853Arg)
c.2381A>C
n.2497A>C
c.2581A>C (p.Ser861Arg)
c.1303A>C (p.Ser435Arg)
c.2131A>C (p.Ser711Arg)
c.2107A>C (p.Ser703Arg)
n.2512A>C
 gnomAD v4
7g.143350616A>GCA369653248CLCN1c.2557A>G (p.Ser853Gly)
c.2381A>G
n.2497A>G
c.2581A>G (p.Ser861Gly)
c.1303A>G (p.Ser435Gly)
c.2131A>G (p.Ser711Gly)
c.2107A>G (p.Ser703Gly)
n.2512A>G
7g.143350616A>TCA369653250CLCN1c.2557A>T (p.Ser853Cys)
c.2381A>T
n.2497A>T
c.2581A>T (p.Ser861Cys)
c.1303A>T (p.Ser435Cys)
c.2131A>T (p.Ser711Cys)
c.2107A>T (p.Ser703Cys)
n.2512A>T
7g.143350617G>ACA369653252CLCN1c.2558G>A (p.Ser853Asn)
c.2382G>A
n.2498G>A
c.2582G>A (p.Ser861Asn)
c.1304G>A (p.Ser435Asn)
c.2132G>A (p.Ser711Asn)
c.2108G>A (p.Ser703Asn)
n.2513G>A
7g.143350617G>CCA369653253CLCN1c.2558G>C (p.Ser853Thr)
c.2382G>C
n.2498G>C
c.2582G>C (p.Ser861Thr)
c.1304G>C (p.Ser435Thr)
c.2132G>C (p.Ser711Thr)
c.2108G>C (p.Ser703Thr)
n.2513G>C
 gnomAD v4
7g.143350617G>TCA369653255CLCN1c.2558G>T (p.Ser853Ile)
c.2382G>T
n.2498G>T
c.2582G>T (p.Ser861Ile)
c.1304G>T (p.Ser435Ile)
c.2132G>T (p.Ser711Ile)
c.2108G>T (p.Ser703Ile)
n.2513G>T
7g.143350618C>ACA369653257CLCN1c.2559C>A (p.Ser853Arg)
c.2383C>A
n.2499C>A
c.2583C>A (p.Ser861Arg)
c.1305C>A (p.Ser435Arg)
c.2133C>A (p.Ser711Arg)
c.2109C>A (p.Ser703Arg)
n.2514C>A
 gnomAD v4
7g.143350618C>GCA369653258CLCN1c.2559C>G (p.Ser853Arg)
c.2383C>G
n.2499C>G
c.2583C>G (p.Ser861Arg)
c.1305C>G (p.Ser435Arg)
c.2133C>G (p.Ser711Arg)
c.2109C>G (p.Ser703Arg)
n.2514C>G
7g.143350618C>TCA458288839CLCN1c.2559C>T (p.Ser853=)
c.2383C>T
n.2499C>T
c.2583C>T (p.Ser861=)
c.1305C>T (p.Ser435=)
c.2133C>T (p.Ser711=)
c.2109C>T (p.Ser703=)
n.2514C>T
 gnomAD v4
7g.143350619delCA2685380874CLCN1c.2560del (p.Met854TrpfsTer?)
c.2384del
n.2500del
c.2584del (p.Met862TrpfsTer?)
c.1306del (p.Met436TrpfsTer?)
c.2134del (p.Met712TrpfsTer?)
c.2110del (p.Met704TrpfsTer?)
n.2515del
 gnomAD v4
7g.143350619A=CA1748897748CLCN1c.2560A= (p.Met854=)
c.2384A=
n.2500A=
c.2584A= (p.Met862=)
c.1306A= (p.Met436=)
c.2134A= (p.Met712=)
c.2110A= (p.Met704=)
n.2515A=
7g.143350619A>CCA369653260CLCN1c.2560A>C (p.Met854Leu)
c.2384A>C
n.2500A>C
c.2584A>C (p.Met862Leu)
c.1306A>C (p.Met436Leu)
c.2134A>C (p.Met712Leu)
c.2110A>C (p.Met704Leu)
n.2515A>C
7g.143350619A>GCA369653262CLCN1c.2560A>G (p.Met854Val)
c.2384A>G
n.2500A>G
c.2584A>G (p.Met862Val)
c.1306A>G (p.Met436Val)
c.2134A>G (p.Met712Val)
c.2110A>G (p.Met704Val)
n.2515A>G
 dbSNP gnomAD v2 gnomAD v4
7g.143350619A>TCA369653264CLCN1c.2560A>T (p.Met854Leu)
c.2384A>T
n.2500A>T
c.2584A>T (p.Met862Leu)
c.1306A>T (p.Met436Leu)
c.2134A>T (p.Met712Leu)
c.2110A>T (p.Met704Leu)
n.2515A>T
7g.143350620T>ACA369653268CLCN1c.2561T>A (p.Met854Lys)
c.2385T>A
n.2501T>A
c.2585T>A (p.Met862Lys)
c.1307T>A (p.Met436Lys)
c.2135T>A (p.Met712Lys)
c.2111T>A (p.Met704Lys)
n.2516T>A
7g.143350620T>CCA369653267CLCN1c.2561T>C (p.Met854Thr)
c.2385T>C
n.2501T>C
c.2585T>C (p.Met862Thr)
c.1307T>C (p.Met436Thr)
c.2135T>C (p.Met712Thr)
c.2111T>C (p.Met704Thr)
n.2516T>C
 gnomAD v4
7g.143350620T>GCA369653266CLCN1c.2561T>G (p.Met854Arg)
c.2385T>G
n.2501T>G
c.2585T>G (p.Met862Arg)
c.1307T>G (p.Met436Arg)
c.2135T>G (p.Met712Arg)
c.2111T>G (p.Met704Arg)
n.2516T>G
7g.143350620_143350621delinsTGCA1748897749CLCN1c.2561_2562delinsTG (p.Met854=)
c.2385_2386delinsTG
n.2501_2502delinsTG
c.2585_2586delinsTG (p.Met862=)
c.1307_1308delinsTG (p.Met436=)
c.2135_2136delinsTG (p.Met712=)
c.2111_2112delinsTG (p.Met704=)
n.2516_2517delinsTG
7g.143350621G>ACA369653270CLCN1c.2562G>A (p.Met854Ile)
c.2386G>A
n.2502G>A
c.2586G>A (p.Met862Ile)
c.1308G>A (p.Met436Ile)
c.2136G>A (p.Met712Ile)
c.2112G>A (p.Met704Ile)
n.2517G>A
 dbSNP gnomAD v4
7g.143350621G>CCA369653272CLCN1c.2562G>C (p.Met854Ile)
c.2386G>C
n.2502G>C
c.2586G>C (p.Met862Ile)
c.1308G>C (p.Met436Ile)
c.2136G>C (p.Met712Ile)
c.2112G>C (p.Met704Ile)
n.2517G>C
7g.143350621G=CA1748897750CLCN1c.2562G= (p.Met854=)
c.2386G=
n.2502G=
c.2586G= (p.Met862=)
c.1308G= (p.Met436=)
c.2136G= (p.Met712=)
c.2112G= (p.Met704=)
n.2517G=
7g.143350621G>TCA369653274CLCN1c.2562G>T (p.Met854Ile)
c.2386G>T
n.2502G>T
c.2586G>T (p.Met862Ile)
c.1308G>T (p.Met436Ile)
c.2136G>T (p.Met712Ile)
c.2112G>T (p.Met704Ile)
n.2517G>T
7g.143350624delCA578446159CLCN1c.2565del (p.Lys856SerfsTer?)
c.2389del
n.2505del
c.2589del (p.Lys864SerfsTer?)
c.1311del (p.Lys438SerfsTer?)
c.2139del (p.Lys714SerfsTer?)
c.2115del (p.Lys706SerfsTer?)
n.2520del
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143350622G>ACA369653275CLCN1c.2563G>A (p.Gly855Arg)
c.2387G>A
n.2503G>A
c.2587G>A (p.Gly863Arg)
c.1309G>A (p.Gly437Arg)
c.2137G>A (p.Gly713Arg)
c.2113G>A (p.Gly705Arg)
n.2518G>A
 gnomAD v4
7g.143350622G>CCA369653276CLCN1c.2563G>C (p.Gly855Arg)
c.2387G>C
n.2503G>C
c.2587G>C (p.Gly863Arg)
c.1309G>C (p.Gly437Arg)
c.2137G>C (p.Gly713Arg)
c.2113G>C (p.Gly705Arg)
n.2518G>C
7g.143350622G>TCA369653277CLCN1c.2563G>T (p.Gly855Trp)
c.2387G>T
n.2503G>T
c.2587G>T (p.Gly863Trp)
c.1309G>T (p.Gly437Trp)
c.2137G>T (p.Gly713Trp)
c.2113G>T (p.Gly705Trp)
n.2518G>T
7g.143350623G>ACA369653279CLCN1c.2564G>A (p.Gly855Glu)
c.2388G>A
n.2504G>A
c.2588G>A (p.Gly863Glu)
c.1310G>A (p.Gly437Glu)
c.2138G>A (p.Gly713Glu)
c.2114G>A (p.Gly705Glu)
n.2519G>A
 ClinVar dbSNP gnomAD v4
7g.143350623G>CCA369653281CLCN1c.2564G>C (p.Gly855Ala)
c.2388G>C
n.2504G>C
c.2588G>C (p.Gly863Ala)
c.1310G>C (p.Gly437Ala)
c.2138G>C (p.Gly713Ala)
c.2114G>C (p.Gly705Ala)
n.2519G>C
7g.143350623G=CA1748897751CLCN1c.2564G= (p.Gly855=)
c.2388G=
n.2504G=
c.2588G= (p.Gly863=)
c.1310G= (p.Gly437=)
c.2138G= (p.Gly713=)
c.2114G= (p.Gly705=)
n.2519G=
7g.143350623G>TCA369653282CLCN1c.2564G>T (p.Gly855Val)
c.2388G>T
n.2504G>T
c.2588G>T (p.Gly863Val)
c.1310G>T (p.Gly437Val)
c.2138G>T (p.Gly713Val)
c.2114G>T (p.Gly705Val)
n.2519G>T
 COSMIC
7g.143350624G>ACA168230724CLCN1c.2565G>A (p.Gly855=)
c.2389G>A
n.2505G>A
c.2589G>A (p.Gly863=)
c.1311G>A (p.Gly437=)
c.2139G>A (p.Gly713=)
c.2115G>A (p.Gly705=)
n.2520G>A
 ClinVar dbSNP gnomAD v4
7g.143350624G>CCA458288873CLCN1c.2565G>C (p.Gly855=)
c.2389G>C
n.2505G>C
c.2589G>C (p.Gly863=)
c.1311G>C (p.Gly437=)
c.2139G>C (p.Gly713=)
c.2115G>C (p.Gly705=)
n.2520G>C
7g.143350624G=CA1748897752CLCN1c.2565G= (p.Gly855=)
c.2389G=
n.2505G=
c.2589G= (p.Gly863=)
c.1311G= (p.Gly437=)
c.2139G= (p.Gly713=)
c.2115G= (p.Gly705=)
n.2520G=
7g.143350624G>TCA458288875CLCN1c.2565G>T (p.Gly855=)
c.2389G>T
n.2505G>T
c.2589G>T (p.Gly863=)
c.1311G>T (p.Gly437=)
c.2139G>T (p.Gly713=)
c.2115G>T (p.Gly705=)
n.2520G>T
 COSMIC
7g.143350625A>CCA369653284CLCN1c.2566A>C (p.Lys856Gln)
c.2390A>C
n.2506A>C
c.2590A>C (p.Lys864Gln)
c.1312A>C (p.Lys438Gln)
c.2140A>C (p.Lys714Gln)
c.2116A>C (p.Lys706Gln)
n.2521A>C
7g.143350625A>GCA369653285CLCN1c.2566A>G (p.Lys856Glu)
c.2390A>G
n.2506A>G
c.2590A>G (p.Lys864Glu)
c.1312A>G (p.Lys438Glu)
c.2140A>G (p.Lys714Glu)
c.2116A>G (p.Lys706Glu)
n.2521A>G
7g.143350625A>TCA369653286CLCN1c.2566A>T (p.Lys856Ter)
c.2390A>T
n.2506A>T
c.2590A>T (p.Lys864Ter)
c.1312A>T (p.Lys438Ter)
c.2140A>T (p.Lys714Ter)
c.2116A>T (p.Lys706Ter)
n.2521A>T
7g.143350626A>CCA369653290CLCN1c.2567A>C (p.Lys856Thr)
c.2391A>C
n.2507A>C
c.2591A>C (p.Lys864Thr)
c.1313A>C (p.Lys438Thr)
c.2141A>C (p.Lys714Thr)
c.2117A>C (p.Lys706Thr)
n.2522A>C
7g.143350626A>GCA369653292CLCN1c.2567A>G (p.Lys856Arg)
c.2391A>G
n.2507A>G
c.2591A>G (p.Lys864Arg)
c.1313A>G (p.Lys438Arg)
c.2141A>G (p.Lys714Arg)
c.2117A>G (p.Lys706Arg)
n.2522A>G
7g.143350626A>TCA369653288CLCN1c.2567A>T (p.Lys856Met)
c.2391A>T
n.2507A>T
c.2591A>T (p.Lys864Met)
c.1313A>T (p.Lys438Met)
c.2141A>T (p.Lys714Met)
c.2117A>T (p.Lys706Met)
n.2522A>T
7g.143350627G>ACA458288891CLCN1c.2568G>A (p.Lys856=)
c.2392G>A
n.2508G>A
c.2592G>A (p.Lys864=)
c.1314G>A (p.Lys438=)
c.2142G>A (p.Lys714=)
c.2118G>A (p.Lys706=)
n.2523G>A
7g.143350627G>CCA369653295CLCN1c.2568G>C (p.Lys856Asn)
c.2392G>C
n.2508G>C
c.2592G>C (p.Lys864Asn)
c.1314G>C (p.Lys438Asn)
c.2142G>C (p.Lys714Asn)
c.2118G>C (p.Lys706Asn)
n.2523G>C
 gnomAD v4
7g.143350627G>TCA369653293CLCN1c.2568G>T (p.Lys856Asn)
c.2392G>T
n.2508G>T
c.2592G>T (p.Lys864Asn)
c.1314G>T (p.Lys438Asn)
c.2142G>T (p.Lys714Asn)
c.2118G>T (p.Lys706Asn)
n.2523G>T
7g.143350628C>ACA369653297CLCN1c.2569C>A (p.Leu857Ile)
c.2393C>A
n.2509C>A
c.2593C>A (p.Leu865Ile)
c.1315C>A (p.Leu439Ile)
c.2143C>A (p.Leu715Ile)
c.2119C>A (p.Leu707Ile)
n.2524C>A
7g.143350628C>GCA369653299CLCN1c.2569C>G (p.Leu857Val)
c.2393C>G
n.2509C>G
c.2593C>G (p.Leu865Val)
c.1315C>G (p.Leu439Val)
c.2143C>G (p.Leu715Val)
c.2119C>G (p.Leu707Val)
n.2524C>G
7g.143350628C>TCA369653300CLCN1c.2569C>T (p.Leu857Phe)
c.2393C>T
n.2509C>T
c.2593C>T (p.Leu865Phe)
c.1315C>T (p.Leu439Phe)
c.2143C>T (p.Leu715Phe)
c.2119C>T (p.Leu707Phe)
n.2524C>T
 gnomAD v4
7g.143350629T>ACA369653302CLCN1c.2570T>A (p.Leu857His)
c.2394T>A
n.2510T>A
c.2594T>A (p.Leu865His)
c.1316T>A (p.Leu439His)
c.2144T>A (p.Leu715His)
c.2120T>A (p.Leu707His)
n.2525T>A
7g.143350629T>CCA369653304CLCN1c.2570T>C (p.Leu857Pro)
c.2394T>C
n.2510T>C
c.2594T>C (p.Leu865Pro)
c.1316T>C (p.Leu439Pro)
c.2144T>C (p.Leu715Pro)
c.2120T>C (p.Leu707Pro)
n.2525T>C
7g.143350629T>GCA369653306CLCN1c.2570T>G (p.Leu857Arg)
c.2394T>G
n.2510T>G
c.2594T>G (p.Leu865Arg)
c.1316T>G (p.Leu439Arg)
c.2144T>G (p.Leu715Arg)
c.2120T>G (p.Leu707Arg)
n.2525T>G
7g.143350630C>ACA458288904CLCN1c.2571C>A (p.Leu857=)
c.2395C>A
n.2511C>A
c.2595C>A (p.Leu865=)
c.1317C>A (p.Leu439=)
c.2145C>A (p.Leu715=)
c.2121C>A (p.Leu707=)
n.2526C>A
7g.143350630C>GCA458288906CLCN1c.2571C>G (p.Leu857=)
c.2395C>G
n.2511C>G
c.2595C>G (p.Leu865=)
c.1317C>G (p.Leu439=)
c.2145C>G (p.Leu715=)
c.2121C>G (p.Leu707=)
n.2526C>G
 ClinVar
7g.143350630C>TCA458288908CLCN1c.2571C>T (p.Leu857=)
c.2395C>T
n.2511C>T
c.2595C>T (p.Leu865=)
c.1317C>T (p.Leu439=)
c.2145C>T (p.Leu715=)
c.2121C>T (p.Leu707=)
n.2526C>T
7g.143350631A=CA1748897753CLCN1c.2572A= (p.Arg858=)
c.2396A=
n.2512A=
c.2596A= (p.Arg866=)
c.1318A= (p.Arg440=)
c.2146A= (p.Arg716=)
c.2122A= (p.Arg708=)
n.2527A=
7g.143350631A>CCA458288912CLCN1c.2572A>C (p.Arg858=)
c.2396A>C
n.2512A>C
c.2596A>C (p.Arg866=)
c.1318A>C (p.Arg440=)
c.2146A>C (p.Arg716=)
c.2122A>C (p.Arg708=)
n.2527A>C
7g.143350631A>GCA369653307CLCN1c.2572A>G (p.Arg858Gly)
c.2396A>G
n.2512A>G
c.2596A>G (p.Arg866Gly)
c.1318A>G (p.Arg440Gly)
c.2146A>G (p.Arg716Gly)
c.2122A>G (p.Arg708Gly)
n.2527A>G
 dbSNP gnomAD v3 gnomAD v4
7g.143350631A>TCA369653308CLCN1c.2572A>T (p.Arg858Trp)
c.2396A>T
n.2512A>T
c.2596A>T (p.Arg866Trp)
c.1318A>T (p.Arg440Trp)
c.2146A>T (p.Arg716Trp)
c.2122A>T (p.Arg708Trp)
n.2527A>T
7g.143350632G>ACA369653311CLCN1c.2573G>A (p.Arg858Lys)
c.2397G>A
n.2513G>A
c.2597G>A (p.Arg866Lys)
c.1319G>A (p.Arg440Lys)
c.2147G>A (p.Arg716Lys)
c.2123G>A (p.Arg708Lys)
n.2528G>A
 dbSNP gnomAD v4
7g.143350632G>CCA369653313CLCN1c.2573G>C (p.Arg858Thr)
c.2397G>C
n.2513G>C
c.2597G>C (p.Arg866Thr)
c.1319G>C (p.Arg440Thr)
c.2147G>C (p.Arg716Thr)
c.2123G>C (p.Arg708Thr)
n.2528G>C
7g.143350632G=CA1748897754CLCN1c.2573G= (p.Arg858=)
c.2397G=
n.2513G=
c.2597G= (p.Arg866=)
c.1319G= (p.Arg440=)
c.2147G= (p.Arg716=)
c.2123G= (p.Arg708=)
n.2528G=
7g.143350632G>TCA369653314CLCN1c.2573G>T (p.Arg858Met)
c.2397G>T
n.2513G>T
c.2597G>T (p.Arg866Met)
c.1319G>T (p.Arg440Met)
c.2147G>T (p.Arg716Met)
c.2123G>T (p.Arg708Met)
n.2528G>T
7g.143350635dupCA168230747CLCN1c.2576dup (p.Val860ArgfsTer12)
c.2400dup
n.2516dup
c.2600dup (p.Val868ArgfsTer12)
c.1322dup (p.Val442ArgfsTer12)
c.2150dup (p.Val718ArgfsTer12)
c.2126dup (p.Val710ArgfsTer12)
n.2531dup
 dbSNP
7g.143350633G>ACA458288923CLCN1c.2574G>A (p.Arg858=)
c.2398G>A
n.2514G>A
c.2598G>A (p.Arg866=)
c.1320G>A (p.Arg440=)
c.2148G>A (p.Arg716=)
c.2124G>A (p.Arg708=)
n.2529G>A
 dbSNP gnomAD v3 gnomAD v4
7g.143350633G>CCA369653316CLCN1c.2574G>C (p.Arg858Ser)
c.2398G>C
n.2514G>C
c.2598G>C (p.Arg866Ser)
c.1320G>C (p.Arg440Ser)
c.2148G>C (p.Arg716Ser)
c.2124G>C (p.Arg708Ser)
n.2529G>C
7g.143350633G=CA1748897755CLCN1c.2574G= (p.Arg858=)
c.2398G=
n.2514G=
c.2598G= (p.Arg866=)
c.1320G= (p.Arg440=)
c.2148G= (p.Arg716=)
c.2124G= (p.Arg708=)
n.2529G=
7g.143350633G>TCA369653318CLCN1c.2574G>T (p.Arg858Ser)
c.2398G>T
n.2514G>T
c.2598G>T (p.Arg866Ser)
c.1320G>T (p.Arg440Ser)
c.2148G>T (p.Arg716Ser)
c.2124G>T (p.Arg708Ser)
n.2529G>T
7g.143350634G>ACA369653322CLCN1c.2575G>A (p.Gly859Ser)
c.2399G>A
n.2515G>A
c.2599G>A (p.Gly867Ser)
c.1321G>A (p.Gly441Ser)
c.2149G>A (p.Gly717Ser)
c.2125G>A (p.Gly709Ser)
n.2530G>A
 dbSNP
7g.143350634G>CCA369653319CLCN1c.2575G>C (p.Gly859Arg)
c.2399G>C
n.2515G>C
c.2599G>C (p.Gly867Arg)
c.1321G>C (p.Gly441Arg)
c.2149G>C (p.Gly717Arg)
c.2125G>C (p.Gly709Arg)
n.2530G>C
7g.143350634G=CA1748897756CLCN1c.2575G= (p.Gly859=)
c.2399G=
n.2515G=
c.2599G= (p.Gly867=)
c.1321G= (p.Gly441=)
c.2149G= (p.Gly717=)
c.2125G= (p.Gly709=)
n.2530G=
7g.143350634G>TCA369653321CLCN1c.2575G>T (p.Gly859Cys)
c.2399G>T
n.2515G>T
c.2599G>T (p.Gly867Cys)
c.1321G>T (p.Gly441Cys)
c.2149G>T (p.Gly717Cys)
c.2125G>T (p.Gly709Cys)
n.2530G>T
7g.143350635G>ACA369653324CLCN1c.2576G>A (p.Gly859Asp)
c.2400G>A
n.2516G>A
c.2600G>A (p.Gly867Asp)
c.1322G>A (p.Gly441Asp)
c.2150G>A (p.Gly717Asp)
c.2126G>A (p.Gly709Asp)
n.2531G>A
 gnomAD v4
7g.143350635G>CCA369653325CLCN1c.2576G>C (p.Gly859Ala)
c.2400G>C
n.2516G>C
c.2600G>C (p.Gly867Ala)
c.1322G>C (p.Gly441Ala)
c.2150G>C (p.Gly717Ala)
c.2126G>C (p.Gly709Ala)
n.2531G>C
7g.143350635G=CA1748897757CLCN1c.2576G= (p.Gly859=)
c.2400G=
n.2516G=
c.2600G= (p.Gly867=)
c.1322G= (p.Gly441=)
c.2150G= (p.Gly717=)
c.2126G= (p.Gly709=)
n.2531G=
7g.143350635G>TCA4537732CLCN1c.2576G>T (p.Gly859Val)
c.2400G>T
n.2516G>T
c.2600G>T (p.Gly867Val)
c.1322G>T (p.Gly441Val)
c.2150G>T (p.Gly717Val)
c.2126G>T (p.Gly709Val)
n.2531G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350636C>ACA4537734CLCN1c.2577C>A (p.Gly859=)
c.2401C>A
n.2517C>A
c.2601C>A (p.Gly867=)
c.1323C>A (p.Gly441=)
c.2151C>A (p.Gly717=)
c.2127C>A (p.Gly709=)
n.2532C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143350636C=CA1748897758CLCN1c.2577C= (p.Gly859=)
c.2401C=
n.2517C=
c.2601C= (p.Gly867=)
c.1323C= (p.Gly441=)
c.2151C= (p.Gly717=)
c.2127C= (p.Gly709=)
n.2532C=
7g.143350636C>GCA458288941CLCN1c.2577C>G (p.Gly859=)
c.2401C>G
n.2517C>G
c.2601C>G (p.Gly867=)
c.1323C>G (p.Gly441=)
c.2151C>G (p.Gly717=)
c.2127C>G (p.Gly709=)
n.2532C>G
 ClinVar
7g.143350636C>TCA4537733CLCN1c.2577C>T (p.Gly859=)
c.2401C>T
n.2517C>T
c.2601C>T (p.Gly867=)
c.1323C>T (p.Gly441=)
c.2151C>T (p.Gly717=)
c.2127C>T (p.Gly709=)
n.2532C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143350637G>ACA275467CLCN1c.2578G>A (p.Val860Ile)
c.2402G>A
n.2518G>A
c.2602G>A (p.Val868Ile)
c.1324G>A (p.Val442Ile)
c.2152G>A (p.Val718Ile)
c.2128G>A (p.Val710Ile)
n.2533G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350637G>CCA369653330CLCN1c.2578G>C (p.Val860Leu)
c.2402G>C
n.2518G>C
c.2602G>C (p.Val868Leu)
c.1324G>C (p.Val442Leu)
c.2152G>C (p.Val718Leu)
c.2128G>C (p.Val710Leu)
n.2533G>C
7g.143350637G=CA1748897759CLCN1c.2578G= (p.Val860=)
c.2402G=
n.2518G=
c.2602G= (p.Val868=)
c.1324G= (p.Val442=)
c.2152G= (p.Val718=)
c.2128G= (p.Val710=)
n.2533G=
7g.143350637G>TCA369653332CLCN1c.2578G>T (p.Val860Phe)
c.2402G>T
n.2518G>T
c.2602G>T (p.Val868Phe)
c.1324G>T (p.Val442Phe)
c.2152G>T (p.Val718Phe)
c.2128G>T (p.Val710Phe)
n.2533G>T
 gnomAD v4 COSMIC
7g.143350638T>ACA369653333CLCN1c.2579T>A (p.Val860Asp)
c.2403T>A
n.2519T>A
c.2603T>A (p.Val868Asp)
c.1325T>A (p.Val442Asp)
c.2153T>A (p.Val718Asp)
c.2129T>A (p.Val710Asp)
n.2534T>A
7g.143350638T>CCA369653335CLCN1c.2579T>C (p.Val860Ala)
c.2403T>C
n.2519T>C
c.2603T>C (p.Val868Ala)
c.1325T>C (p.Val442Ala)
c.2153T>C (p.Val718Ala)
c.2129T>C (p.Val710Ala)
n.2534T>C
7g.143350638T>GCA369653336CLCN1c.2579T>G (p.Val860Gly)
c.2403T>G
n.2519T>G
c.2603T>G (p.Val868Gly)
c.1325T>G (p.Val442Gly)
c.2153T>G (p.Val718Gly)
c.2129T>G (p.Val710Gly)
n.2534T>G
7g.143350639C>ACA458288942CLCN1c.2580C>A (p.Val860=)
c.2404C>A
n.2520C>A
c.2604C>A (p.Val868=)
c.1326C>A (p.Val442=)
c.2154C>A (p.Val718=)
c.2130C>A (p.Val710=)
n.2535C>A
 ClinVar dbSNP
7g.143350639C=CA1748897760CLCN1c.2580C= (p.Val860=)
c.2404C=
n.2520C=
c.2604C= (p.Val868=)
c.1326C= (p.Val442=)
c.2154C= (p.Val718=)
c.2130C= (p.Val710=)
n.2535C=
7g.143350639C>GCA458288943CLCN1c.2580C>G (p.Val860=)
c.2404C>G
n.2520C>G
c.2604C>G (p.Val868=)
c.1326C>G (p.Val442=)
c.2154C>G (p.Val718=)
c.2130C>G (p.Val710=)
n.2535C>G
7g.143350639C>TCA458288944CLCN1c.2580C>T (p.Val860=)
c.2404C>T
n.2520C>T
c.2604C>T (p.Val868=)
c.1326C>T (p.Val442=)
c.2154C>T (p.Val718=)
c.2130C>T (p.Val710=)
n.2535C>T
7g.143350640delCA2573141806CLCN1c.2581del (p.Leu861TrpfsTer?)
c.2405del
n.2521del
c.2605del (p.Leu869TrpfsTer?)
c.1327del (p.Leu443TrpfsTer?)
c.2155del (p.Leu719TrpfsTer?)
c.2131del (p.Leu711TrpfsTer?)
n.2536del
 ClinVar dbSNP
7g.143350640C>ACA369653338CLCN1c.2581C>A (p.Leu861Met)
c.2405C>A
n.2521C>A
c.2605C>A (p.Leu869Met)
c.1327C>A (p.Leu443Met)
c.2155C>A (p.Leu719Met)
c.2131C>A (p.Leu711Met)
n.2536C>A
7g.143350640C>GCA369653340CLCN1c.2581C>G (p.Leu861Val)
c.2405C>G
n.2521C>G
c.2605C>G (p.Leu869Val)
c.1327C>G (p.Leu443Val)
c.2155C>G (p.Leu719Val)
c.2131C>G (p.Leu711Val)
n.2536C>G
7g.143350640C>TCA458288945CLCN1c.2581C>T (p.Leu861=)
c.2405C>T
n.2521C>T
c.2605C>T (p.Leu869=)
c.1327C>T (p.Leu443=)
c.2155C>T (p.Leu719=)
c.2131C>T (p.Leu711=)
n.2536C>T
 gnomAD v4
7g.143350641T>ACA369653341CLCN1c.2582T>A (p.Leu861Gln)
c.2406T>A
n.2522T>A
c.2606T>A (p.Leu869Gln)
c.1328T>A (p.Leu443Gln)
c.2156T>A (p.Leu719Gln)
c.2132T>A (p.Leu711Gln)
n.2537T>A
7g.143350641T>CCA369653345CLCN1c.2582T>C (p.Leu861Pro)
c.2406T>C
n.2522T>C
c.2606T>C (p.Leu869Pro)
c.1328T>C (p.Leu443Pro)
c.2156T>C (p.Leu719Pro)
c.2132T>C (p.Leu711Pro)
n.2537T>C
 gnomAD v4
7g.143350641T>GCA369653343CLCN1c.2582T>G (p.Leu861Arg)
c.2406T>G
n.2522T>G
c.2606T>G (p.Leu869Arg)
c.1328T>G (p.Leu443Arg)
c.2156T>G (p.Leu719Arg)
c.2132T>G (p.Leu711Arg)
n.2537T>G
7g.143350642G>ACA458288948CLCN1c.2583G>A (p.Leu861=)
c.2407G>A
n.2523G>A
c.2607G>A (p.Leu869=)
c.1329G>A (p.Leu443=)
c.2157G>A (p.Leu719=)
c.2133G>A (p.Leu711=)
n.2538G>A
7g.143350642G>CCA458288947CLCN1c.2583G>C (p.Leu861=)
c.2407G>C
n.2523G>C
c.2607G>C (p.Leu869=)
c.1329G>C (p.Leu443=)
c.2157G>C (p.Leu719=)
c.2133G>C (p.Leu711=)
n.2538G>C
7g.143350642G>TCA458288946CLCN1c.2583G>T (p.Leu861=)
c.2407G>T
n.2523G>T
c.2607G>T (p.Leu869=)
c.1329G>T (p.Leu443=)
c.2157G>T (p.Leu719=)
c.2133G>T (p.Leu711=)
n.2538G>T
7g.143350643G>ACA369653346CLCN1c.2584G>A (p.Ala862Thr)
c.2408G>A
n.2524G>A
c.2608G>A (p.Ala870Thr)
c.1330G>A (p.Ala444Thr)
c.2158G>A (p.Ala720Thr)
c.2134G>A (p.Ala712Thr)
n.2539G>A
 gnomAD v4
7g.143350643G>CCA369653348CLCN1c.2584G>C (p.Ala862Pro)
c.2408G>C
n.2524G>C
c.2608G>C (p.Ala870Pro)
c.1330G>C (p.Ala444Pro)
c.2158G>C (p.Ala720Pro)
c.2134G>C (p.Ala712Pro)
n.2539G>C
7g.143350643G>TCA369653349CLCN1c.2584G>T (p.Ala862Ser)
c.2408G>T
n.2524G>T
c.2608G>T (p.Ala870Ser)
c.1330G>T (p.Ala444Ser)
c.2158G>T (p.Ala720Ser)
c.2134G>T (p.Ala712Ser)
n.2539G>T
7g.143350644C>ACA4537735CLCN1c.2585C>A (p.Ala862Asp)
c.2409C>A
n.2525C>A
c.2609C>A (p.Ala870Asp)
c.1331C>A (p.Ala444Asp)
c.2159C>A (p.Ala720Asp)
c.2135C>A (p.Ala712Asp)
n.2540C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143350644C=CA1748897761CLCN1c.2585C= (p.Ala862=)
c.2409C=
n.2525C=
c.2609C= (p.Ala870=)
c.1331C= (p.Ala444=)
c.2159C= (p.Ala720=)
c.2135C= (p.Ala712=)
n.2540C=
7g.143350644C>GCA369653352CLCN1c.2585C>G (p.Ala862Gly)
c.2409C>G
n.2525C>G
c.2609C>G (p.Ala870Gly)
c.1331C>G (p.Ala444Gly)
c.2159C>G (p.Ala720Gly)
c.2135C>G (p.Ala712Gly)
n.2540C>G
7g.143350644C>TCA369653354CLCN1c.2585C>T (p.Ala862Val)
c.2409C>T
n.2525C>T
c.2609C>T (p.Ala870Val)
c.1331C>T (p.Ala444Val)
c.2159C>T (p.Ala720Val)
c.2135C>T (p.Ala712Val)
n.2540C>T
7g.143350645C>ACA458288949CLCN1c.2586C>A (p.Ala862=)
c.2410C>A
n.2526C>A
c.2610C>A (p.Ala870=)
c.1332C>A (p.Ala444=)
c.2160C>A (p.Ala720=)
c.2136C>A (p.Ala712=)
n.2541C>A
7g.143350645C>GCA458288950CLCN1c.2586C>G (p.Ala862=)
c.2410C>G
n.2526C>G
c.2610C>G (p.Ala870=)
c.1332C>G (p.Ala444=)
c.2160C>G (p.Ala720=)
c.2136C>G (p.Ala712=)
n.2541C>G
7g.143350645C>TCA458288951CLCN1c.2586C>T (p.Ala862=)
c.2410C>T
n.2526C>T
c.2610C>T (p.Ala870=)
c.1332C>T (p.Ala444=)
c.2160C>T (p.Ala720=)
c.2136C>T (p.Ala712=)
n.2541C>T
7g.143350646C>ACA369653357CLCN1c.2587C>A (p.Leu863Met)
c.2411C>A
n.2527C>A
c.2611C>A (p.Leu871Met)
c.1333C>A (p.Leu445Met)
c.2161C>A (p.Leu721Met)
c.2137C>A (p.Leu713Met)
n.2542C>A
7g.143350646C>GCA369653355CLCN1c.2587C>G (p.Leu863Val)
c.2411C>G
n.2527C>G
c.2611C>G (p.Leu871Val)
c.1333C>G (p.Leu445Val)
c.2161C>G (p.Leu721Val)
c.2137C>G (p.Leu713Val)
n.2542C>G
7g.143350646C>TCA458288952CLCN1c.2587C>T (p.Leu863=)
c.2411C>T
n.2527C>T
c.2611C>T (p.Leu871=)
c.1333C>T (p.Leu445=)
c.2161C>T (p.Leu721=)
c.2137C>T (p.Leu713=)
n.2542C>T
 gnomAD v4
7g.143350647T>ACA369653359CLCN1c.2588T>A (p.Leu863Gln)
c.2412T>A
n.2528T>A
c.2612T>A (p.Leu871Gln)
c.1334T>A (p.Leu445Gln)
c.2162T>A (p.Leu721Gln)
c.2138T>A (p.Leu713Gln)
n.2543T>A
7g.143350647T>CCA369653360CLCN1c.2588T>C (p.Leu863Pro)
c.2412T>C
n.2528T>C
c.2612T>C (p.Leu871Pro)
c.1334T>C (p.Leu445Pro)
c.2162T>C (p.Leu721Pro)
c.2138T>C (p.Leu713Pro)
n.2543T>C
7g.143350647T>GCA369653362CLCN1c.2588T>G (p.Leu863Arg)
c.2412T>G
n.2528T>G
c.2612T>G (p.Leu871Arg)
c.1334T>G (p.Leu445Arg)
c.2162T>G (p.Leu721Arg)
c.2138T>G (p.Leu713Arg)
n.2543T>G
7g.143350648G>ACA458288954CLCN1c.2589G>A (p.Leu863=)
c.2413G>A
n.2529G>A
c.2613G>A (p.Leu871=)
c.1335G>A (p.Leu445=)
c.2163G>A (p.Leu721=)
c.2139G>A (p.Leu713=)
n.2544G>A
7g.143350648G>CCA458288955CLCN1c.2589G>C (p.Leu863=)
c.2413G>C
n.2529G>C
c.2613G>C (p.Leu871=)
c.1335G>C (p.Leu445=)
c.2163G>C (p.Leu721=)
c.2139G>C (p.Leu713=)
n.2544G>C
7g.143350648G>TCA458288953CLCN1c.2589G>T (p.Leu863=)
c.2413G>T
n.2529G>T
c.2613G>T (p.Leu871=)
c.1335G>T (p.Leu445=)
c.2163G>T (p.Leu721=)
c.2139G>T (p.Leu713=)
n.2544G>T
7g.143350649G>ACA369653363CLCN1c.2590G>A (p.Glu864Lys)
c.2414G>A
n.2530G>A
c.2614G>A (p.Glu872Lys)
c.1336G>A (p.Glu446Lys)
c.2164G>A (p.Glu722Lys)
c.2140G>A (p.Glu714Lys)
n.2545G>A
7g.143350649G>CCA369653364CLCN1c.2590G>C (p.Glu864Gln)
c.2414G>C
n.2530G>C
c.2614G>C (p.Glu872Gln)
c.1336G>C (p.Glu446Gln)
c.2164G>C (p.Glu722Gln)
c.2140G>C (p.Glu714Gln)
n.2545G>C
7g.143350649G>TCA369653365CLCN1c.2590G>T (p.Glu864Ter)
c.2414G>T
n.2530G>T
c.2614G>T (p.Glu872Ter)
c.1336G>T (p.Glu446Ter)
c.2164G>T (p.Glu722Ter)
c.2140G>T (p.Glu714Ter)
n.2545G>T
7g.143350650A>CCA369653366CLCN1c.2591A>C (p.Glu864Ala)
c.2415A>C
n.2531A>C
c.2615A>C (p.Glu872Ala)
c.1337A>C (p.Glu446Ala)
c.2165A>C (p.Glu722Ala)
c.2141A>C (p.Glu714Ala)
n.2546A>C
7g.143350650A>GCA369653368CLCN1c.2591A>G (p.Glu864Gly)
c.2415A>G
n.2531A>G
c.2615A>G (p.Glu872Gly)
c.1337A>G (p.Glu446Gly)
c.2165A>G (p.Glu722Gly)
c.2141A>G (p.Glu714Gly)
n.2546A>G
7g.143350650A>TCA369653367CLCN1c.2591A>T (p.Glu864Val)
c.2415A>T
n.2531A>T
c.2615A>T (p.Glu872Val)
c.1337A>T (p.Glu446Val)
c.2165A>T (p.Glu722Val)
c.2141A>T (p.Glu714Val)
n.2546A>T
 gnomAD v4
7g.143350651G>ACA458288956CLCN1c.2592G>A (p.Glu864=)
c.2416G>A
n.2532G>A
c.2616G>A (p.Glu872=)
c.1338G>A (p.Glu446=)
c.2166G>A (p.Glu722=)
c.2142G>A (p.Glu714=)
n.2547G>A
 ClinVar dbSNP
7g.143350651G>CCA369653369CLCN1c.2592G>C (p.Glu864Asp)
c.2416G>C
n.2532G>C
c.2616G>C (p.Glu872Asp)
c.1338G>C (p.Glu446Asp)
c.2166G>C (p.Glu722Asp)
c.2142G>C (p.Glu714Asp)
n.2547G>C
7g.143350651G>TCA369653370CLCN1c.2592G>T (p.Glu864Asp)
c.2416G>T
n.2532G>T
c.2616G>T (p.Glu872Asp)
c.1338G>T (p.Glu446Asp)
c.2166G>T (p.Glu722Asp)
c.2142G>T (p.Glu714Asp)
n.2547G>T
7g.143350652G>ACA369653372CLCN1c.2593G>A (p.Glu865Lys)
c.2417G>A
n.2533G>A
c.2617G>A (p.Glu873Lys)
c.1339G>A (p.Glu447Lys)
c.2167G>A (p.Glu723Lys)
c.2143G>A (p.Glu715Lys)
n.2548G>A
7g.143350652G>CCA369653374CLCN1c.2593G>C (p.Glu865Gln)
c.2417G>C
n.2533G>C
c.2617G>C (p.Glu873Gln)
c.1339G>C (p.Glu447Gln)
c.2167G>C (p.Glu723Gln)
c.2143G>C (p.Glu715Gln)
n.2548G>C
7g.143350652G>TCA369653376CLCN1c.2593G>T (p.Glu865Ter)
c.2417G>T
n.2533G>T
c.2617G>T (p.Glu873Ter)
c.1339G>T (p.Glu447Ter)
c.2167G>T (p.Glu723Ter)
c.2143G>T (p.Glu715Ter)
n.2548G>T
7g.143350653A>CCA369653377CLCN1c.2594A>C (p.Glu865Ala)
c.2418A>C
n.2534A>C
c.2618A>C (p.Glu873Ala)
c.1340A>C (p.Glu447Ala)
c.2168A>C (p.Glu723Ala)
c.2144A>C (p.Glu715Ala)
n.2549A>C
7g.143350653A>GCA369653379CLCN1c.2594A>G (p.Glu865Gly)
c.2418A>G
n.2534A>G
c.2618A>G (p.Glu873Gly)
c.1340A>G (p.Glu447Gly)
c.2168A>G (p.Glu723Gly)
c.2144A>G (p.Glu715Gly)
n.2549A>G
7g.143350653A>TCA369653381CLCN1c.2594A>T (p.Glu865Val)
c.2418A>T
n.2534A>T
c.2618A>T (p.Glu873Val)
c.1340A>T (p.Glu447Val)
c.2168A>T (p.Glu723Val)
c.2144A>T (p.Glu715Val)
n.2549A>T
7g.143350654G>ACA458288957CLCN1c.2595G>A (p.Glu865=)
c.2419G>A
n.2535G>A
c.2619G>A (p.Glu873=)
c.1341G>A (p.Glu447=)
c.2169G>A (p.Glu723=)
c.2145G>A (p.Glu715=)
n.2550G>A
 ClinVar dbSNP
7g.143350654G>CCA369653382CLCN1c.2595G>C (p.Glu865Asp)
c.2419G>C
n.2535G>C
c.2619G>C (p.Glu873Asp)
c.1341G>C (p.Glu447Asp)
c.2169G>C (p.Glu723Asp)
c.2145G>C (p.Glu715Asp)
n.2550G>C
7g.143350654G>TCA369653384CLCN1c.2595G>T (p.Glu865Asp)
c.2419G>T
n.2535G>T
c.2619G>T (p.Glu873Asp)
c.1341G>T (p.Glu447Asp)
c.2169G>T (p.Glu723Asp)
c.2145G>T (p.Glu715Asp)
n.2550G>T
7g.143350655G>ACA369653389CLCN1c.2595+1G>A (n.2595+1G>A)
c.2419+1G>A
n.2535+1G>A
c.2619+1G>A (n.2619+1G>A)
c.1341+1G>A (n.1341+1G>A)
c.2169+1G>A (n.2169+1G>A)
c.2145+1G>A (n.2145+1G>A)
n.2550+1G>A
 ClinVar dbSNP gnomAD v4
7g.143350655G>CCA369653388CLCN1c.2595+1G>C (n.2595+1G>C)
c.2419+1G>C
n.2535+1G>C
c.2619+1G>C (n.2619+1G>C)
c.1341+1G>C (n.1341+1G>C)
c.2169+1G>C (n.2169+1G>C)
c.2145+1G>C (n.2145+1G>C)
n.2550+1G>C
7g.143350655G>TCA369653386CLCN1c.2595+1G>T (n.2595+1G>T)
c.2419+1G>T
n.2535+1G>T
c.2619+1G>T (n.2619+1G>T)
c.1341+1G>T (n.1341+1G>T)
c.2169+1G>T (n.2169+1G>T)
c.2145+1G>T (n.2145+1G>T)
n.2550+1G>T
7g.143350656T>ACA369653391CLCN1c.2595+2T>A (n.2595+2T>A)
c.2419+2T>A
n.2535+2T>A
c.2619+2T>A (n.2619+2T>A)
c.1341+2T>A (n.1341+2T>A)
c.2169+2T>A (n.2169+2T>A)
c.2145+2T>A (n.2145+2T>A)
n.2550+2T>A
7g.143350656T>CCA369653394CLCN1c.2595+2T>C (n.2595+2T>C)
c.2419+2T>C
n.2535+2T>C
c.2619+2T>C (n.2619+2T>C)
c.1341+2T>C (n.1341+2T>C)
c.2169+2T>C (n.2169+2T>C)
c.2145+2T>C (n.2145+2T>C)
n.2550+2T>C
 dbSNP
7g.143350656T>GCA369653392CLCN1c.2595+2T>G (n.2595+2T>G)
c.2419+2T>G
n.2535+2T>G
c.2619+2T>G (n.2619+2T>G)
c.1341+2T>G (n.1341+2T>G)
c.2169+2T>G (n.2169+2T>G)
c.2145+2T>G (n.2145+2T>G)
n.2550+2T>G
7g.143350656T=CA1748897762CLCN1c.2595+2T= (n.2595+2T=)
c.2419+2T=
n.2535+2T=
c.2619+2T= (n.2619+2T=)
c.1341+2T= (n.1341+2T=)
c.2169+2T= (n.2169+2T=)
c.2145+2T= (n.2145+2T=)
n.2550+2T=
7g.143350657A>TCA2685381164CLCN1c.2595+3A>T (n.2595+3A>T)
c.2419+3A>T
n.2535+3A>T
c.2619+3A>T (n.2619+3A>T)
c.1341+3A>T (n.1341+3A>T)
c.2169+3A>T (n.2169+3A>T)
c.2145+3A>T (n.2145+3A>T)
n.2550+3A>T
 gnomAD v4
7g.143350658A=CA1748897763CLCN1c.2595+4A= (n.2595+4A=)
c.2419+4A=
n.2535+4A=
c.2619+4A= (n.2619+4A=)
c.1341+4A= (n.1341+4A=)
c.2169+4A= (n.2169+4A=)
c.2145+4A= (n.2145+4A=)
n.2550+4A=
7g.143350658A>GCA1748897764CLCN1c.2595+4A>G (n.2595+4A>G)
c.2419+4A>G
n.2535+4A>G
c.2619+4A>G (n.2619+4A>G)
c.1341+4A>G (n.1341+4A>G)
c.2169+4A>G (n.2169+4A>G)
c.2145+4A>G (n.2145+4A>G)
n.2550+4A>G
 dbSNP gnomAD v4
7g.143350660C>ACA2685381173CLCN1c.2595+6C>A (n.2595+6C>A)
c.2419+6C>A
n.2535+6C>A
c.2619+6C>A (n.2619+6C>A)
c.1341+6C>A (n.1341+6C>A)
c.2169+6C>A (n.2169+6C>A)
c.2145+6C>A (n.2145+6C>A)
n.2550+6C>A
 gnomAD v4
7g.143350662C>ACA2685381179CLCN1c.2595+8C>A (n.2595+8C>A)
c.2419+8C>A
n.2535+8C>A
c.2619+8C>A (n.2619+8C>A)
c.1341+8C>A (n.1341+8C>A)
c.2169+8C>A (n.2169+8C>A)
c.2145+8C>A (n.2145+8C>A)
n.2550+8C>A
 gnomAD v4
7g.143350662C=CA1748897765CLCN1c.2595+8C= (n.2595+8C=)
c.2419+8C=
n.2535+8C=
c.2619+8C= (n.2619+8C=)
c.1341+8C= (n.1341+8C=)
c.2169+8C= (n.2169+8C=)
c.2145+8C= (n.2145+8C=)
n.2550+8C=
7g.143350662C>GCA2685381180CLCN1c.2595+8C>G (n.2595+8C>G)
c.2419+8C>G
n.2535+8C>G
c.2619+8C>G (n.2619+8C>G)
c.1341+8C>G (n.1341+8C>G)
c.2169+8C>G (n.2169+8C>G)
c.2145+8C>G (n.2145+8C>G)
n.2550+8C>G
 gnomAD v4
7g.143350662C>TCA4537736CLCN1c.2595+8C>T (n.2595+8C>T)
c.2419+8C>T
n.2535+8C>T
c.2619+8C>T (n.2619+8C>T)
c.1341+8C>T (n.1341+8C>T)
c.2169+8C>T (n.2169+8C>T)
c.2145+8C>T (n.2145+8C>T)
n.2550+8C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143350663G>ACA4537737CLCN1c.2595+9G>A (n.2595+9G>A)
c.2419+9G>A
n.2535+9G>A
c.2619+9G>A (n.2619+9G>A)
c.1341+9G>A (n.1341+9G>A)
c.2169+9G>A (n.2169+9G>A)
c.2145+9G>A (n.2145+9G>A)
n.2550+9G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143350663G=CA1748897766CLCN1c.2595+9G= (n.2595+9G=)
c.2419+9G=
n.2535+9G=
c.2619+9G= (n.2619+9G=)
c.1341+9G= (n.1341+9G=)
c.2169+9G= (n.2169+9G=)
c.2145+9G= (n.2145+9G=)
n.2550+9G=
7g.143350664A=CA1748897767CLCN1c.2595+10A= (n.2595+10A=)
c.2419+10A=
n.2535+10A=
c.2619+10A= (n.2619+10A=)
c.1341+10A= (n.1341+10A=)
c.2169+10A= (n.2169+10A=)
c.2145+10A= (n.2145+10A=)
n.2550+10A=
7g.143350664A>GCA578446160CLCN1c.2595+10A>G (n.2595+10A>G)
c.2419+10A>G
n.2535+10A>G
c.2619+10A>G (n.2619+10A>G)
c.1341+10A>G (n.1341+10A>G)
c.2169+10A>G (n.2169+10A>G)
c.2145+10A>G (n.2145+10A>G)
n.2550+10A>G
 dbSNP gnomAD v2 gnomAD v4
7g.143350664A>TCA2685381192CLCN1c.2595+10A>T (n.2595+10A>T)
c.2419+10A>T
n.2535+10A>T
c.2619+10A>T (n.2619+10A>T)
c.1341+10A>T (n.1341+10A>T)
c.2169+10A>T (n.2169+10A>T)
c.2145+10A>T (n.2145+10A>T)
n.2550+10A>T
 gnomAD v4
7g.143350665T>CCA1748897769CLCN1c.2595+11T>C (n.2595+11T>C)
c.2419+11T>C
n.2535+11T>C
c.2619+11T>C (n.2619+11T>C)
c.1341+11T>C (n.1341+11T>C)
c.2169+11T>C (n.2169+11T>C)
c.2145+11T>C (n.2145+11T>C)
n.2550+11T>C
 dbSNP gnomAD v4
7g.143350665T=CA1748897768CLCN1c.2595+11T= (n.2595+11T=)
c.2419+11T=
n.2535+11T=
c.2619+11T= (n.2619+11T=)
c.1341+11T= (n.1341+11T=)
c.2169+11T= (n.2169+11T=)
c.2145+11T= (n.2145+11T=)
n.2550+11T=
7g.143350666G>ACA578446161CLCN1c.2595+12G>A (n.2595+12G>A)
c.2419+12G>A
n.2535+12G>A
c.2619+12G>A (n.2619+12G>A)
c.1341+12G>A (n.1341+12G>A)
c.2169+12G>A (n.2169+12G>A)
c.2145+12G>A (n.2145+12G>A)
n.2550+12G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143350666G=CA1748897770CLCN1c.2595+12G= (n.2595+12G=)
c.2419+12G=
n.2535+12G=
c.2619+12G= (n.2619+12G=)
c.1341+12G= (n.1341+12G=)
c.2169+12G= (n.2169+12G=)
c.2145+12G= (n.2145+12G=)
n.2550+12G=
7g.143350667T>CCA1748897772CLCN1c.2595+13T>C (n.2595+13T>C)
c.2419+13T>C
n.2535+13T>C
c.2619+13T>C (n.2619+13T>C)
c.1341+13T>C (n.1341+13T>C)
c.2169+13T>C (n.2169+13T>C)
c.2145+13T>C (n.2145+13T>C)
n.2550+13T>C
 dbSNP gnomAD v4
7g.143350667T=CA1748897771CLCN1c.2595+13T= (n.2595+13T=)
c.2419+13T=
n.2535+13T=
c.2619+13T= (n.2619+13T=)
c.1341+13T= (n.1341+13T=)
c.2169+13T= (n.2169+13T=)
c.2145+13T= (n.2145+13T=)
n.2550+13T=
7g.143350668G>ACA578446162CLCN1c.2595+14G>A (n.2595+14G>A)
c.2419+14G>A
n.2535+14G>A
c.2619+14G>A (n.2619+14G>A)
c.1341+14G>A (n.1341+14G>A)
c.2169+14G>A (n.2169+14G>A)
c.2145+14G>A (n.2145+14G>A)
n.2550+14G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143350668G=CA1748897773CLCN1c.2595+14G= (n.2595+14G=)
c.2419+14G=
n.2535+14G=
c.2619+14G= (n.2619+14G=)
c.1341+14G= (n.1341+14G=)
c.2169+14G= (n.2169+14G=)
c.2145+14G= (n.2145+14G=)
n.2550+14G=
7g.143350668G>TCA2838416845CLCN1c.2595+14G>T (n.2595+14G>T)
c.2419+14G>T
n.2535+14G>T
c.2619+14G>T (n.2619+14G>T)
c.1341+14G>T (n.1341+14G>T)
c.2169+14G>T (n.2169+14G>T)
c.2145+14G>T (n.2145+14G>T)
n.2550+14G>T
7g.143350669T>CCA652121945CLCN1c.2595+15T>C (n.2595+15T>C)
c.2419+15T>C
n.2535+15T>C
c.2619+15T>C (n.2619+15T>C)
c.1341+15T>C (n.1341+15T>C)
c.2169+15T>C (n.2169+15T>C)
c.2145+15T>C (n.2145+15T>C)
n.2550+15T>C
 gnomAD v4 COSMIC
7g.143350670C>ACA2685381215CLCN1c.2595+16C>A (n.2595+16C>A)
c.2419+16C>A
n.2535+16C>A
c.2619+16C>A (n.2619+16C>A)
c.1341+16C>A (n.1341+16C>A)
c.2169+16C>A (n.2169+16C>A)
c.2145+16C>A (n.2145+16C>A)
n.2550+16C>A
 gnomAD v4
7g.143350670C>TCA2685381220CLCN1c.2595+16C>T (n.2595+16C>T)
c.2419+16C>T
n.2535+16C>T
c.2619+16C>T (n.2619+16C>T)
c.1341+16C>T (n.1341+16C>T)
c.2169+16C>T (n.2169+16C>T)
c.2145+16C>T (n.2145+16C>T)
n.2550+16C>T
 gnomAD v4
7g.143350671C>ACA2579051057CLCN1c.2595+17C>A (n.2595+17C>A)
c.2419+17C>A
n.2535+17C>A
c.2619+17C>A (n.2619+17C>A)
c.1341+17C>A (n.1341+17C>A)
c.2169+17C>A (n.2169+17C>A)
c.2145+17C>A (n.2145+17C>A)
n.2550+17C>A
 ClinVar gnomAD v4
7g.143350672C>ACA2579051058CLCN1c.2595+18C>A (n.2595+18C>A)
c.2419+18C>A
n.2535+18C>A
c.2619+18C>A (n.2619+18C>A)
c.1341+18C>A (n.1341+18C>A)
c.2169+18C>A (n.2169+18C>A)
c.2145+18C>A (n.2145+18C>A)
n.2550+18C>A
 gnomAD v4
7g.143350672C>TCA2740094940CLCN1c.2595+18C>T (n.2595+18C>T)
c.2419+18C>T
n.2535+18C>T
c.2619+18C>T (n.2619+18C>T)
c.1341+18C>T (n.1341+18C>T)
c.2169+18C>T (n.2169+18C>T)
c.2145+18C>T (n.2145+18C>T)
n.2550+18C>T
 ClinVar
7g.143350674T>CCA2579051059CLCN1c.2595+20T>C (n.2595+20T>C)
c.2419+20T>C
n.2535+20T>C
c.2619+20T>C (n.2619+20T>C)
c.1341+20T>C (n.1341+20T>C)
c.2169+20T>C (n.2169+20T>C)
c.2145+20T>C (n.2145+20T>C)
n.2550+20T>C
 gnomAD v4
7g.143350675T>CCA2685381232CLCN1c.2595+21T>C (n.2595+21T>C)
c.2419+21T>C
n.2535+21T>C
c.2619+21T>C (n.2619+21T>C)
c.1341+21T>C (n.1341+21T>C)
c.2169+21T>C (n.2169+21T>C)
c.2145+21T>C (n.2145+21T>C)
n.2550+21T>C
 gnomAD v4
7g.143350677G>TCA2838416842CLCN1c.2595+23G>T (n.2595+23G>T)
c.2419+23G>T
n.2535+23G>T
c.2619+23G>T (n.2619+23G>T)
c.1341+23G>T (n.1341+23G>T)
c.2169+23G>T (n.2169+23G>T)
c.2145+23G>T (n.2145+23G>T)
n.2550+23G>T
7g.143350678A>GCA2579051060CLCN1c.2595+24A>G (n.2595+24A>G)
c.2419+24A>G
n.2535+24A>G
c.2619+24A>G (n.2619+24A>G)
c.1341+24A>G (n.1341+24A>G)
c.2169+24A>G (n.2169+24A>G)
c.2145+24A>G (n.2145+24A>G)
n.2550+24A>G
 gnomAD v4
7g.143350679G>ACA2685381237CLCN1c.2595+25G>A (n.2595+25G>A)
c.2419+25G>A
n.2535+25G>A
c.2619+25G>A (n.2619+25G>A)
c.1341+25G>A (n.1341+25G>A)
c.2169+25G>A (n.2169+25G>A)
c.2145+25G>A (n.2145+25G>A)
n.2550+25G>A
 gnomAD v4
7g.143350679G>TCA2842567691CLCN1c.2595+25G>T (n.2595+25G>T)
c.2419+25G>T
n.2535+25G>T
c.2619+25G>T (n.2619+25G>T)
c.1341+25G>T (n.1341+25G>T)
c.2169+25G>T (n.2169+25G>T)
c.2145+25G>T (n.2145+25G>T)
n.2550+25G>T
7g.143350680delCA2685381239CLCN1c.2595+26del (n.2595+26del)
c.2419+26del
n.2535+26del
c.2619+26del (n.2619+26del)
c.1341+26del (n.1341+26del)
c.2169+26del (n.2169+26del)
c.2145+26del (n.2145+26del)
n.2550+26del
 gnomAD v4
7g.143350680C>ACA2685381241CLCN1c.2595+26C>A (n.2595+26C>A)
c.2419+26C>A
n.2535+26C>A
c.2619+26C>A (n.2619+26C>A)
c.1341+26C>A (n.1341+26C>A)
c.2169+26C>A (n.2169+26C>A)
c.2145+26C>A (n.2145+26C>A)
n.2550+26C>A
 gnomAD v4
7g.143350680C>TCA2685381243CLCN1c.2595+26C>T (n.2595+26C>T)
c.2419+26C>T
n.2535+26C>T
c.2619+26C>T (n.2619+26C>T)
c.1341+26C>T (n.1341+26C>T)
c.2169+26C>T (n.2169+26C>T)
c.2145+26C>T (n.2145+26C>T)
n.2550+26C>T
 gnomAD v4
7g.143350681A=CA1748897774CLCN1c.2595+27A= (n.2595+27A=)
c.2419+27A=
n.2535+27A=
c.2619+27A= (n.2619+27A=)
c.1341+27A= (n.1341+27A=)
c.2169+27A= (n.2169+27A=)
c.2145+27A= (n.2145+27A=)
n.2550+27A=
7g.143350681A>GCA578446163CLCN1c.2595+27A>G (n.2595+27A>G)
c.2419+27A>G
n.2535+27A>G
c.2619+27A>G (n.2619+27A>G)
c.1341+27A>G (n.1341+27A>G)
c.2169+27A>G (n.2169+27A>G)
c.2145+27A>G (n.2145+27A>G)
n.2550+27A>G
 dbSNP gnomAD v2 gnomAD v4
7g.143350681A>TCA2715661767CLCN1c.2595+27A>T (n.2595+27A>T)
c.2419+27A>T
n.2535+27A>T
c.2619+27A>T (n.2619+27A>T)
c.1341+27A>T (n.1341+27A>T)
c.2169+27A>T (n.2169+27A>T)
c.2145+27A>T (n.2145+27A>T)
n.2550+27A>T
 dbSNP
7g.143350682G>ACA2685381258CLCN1c.2595+28G>A (n.2595+28G>A)
c.2419+28G>A
n.2535+28G>A
c.2619+28G>A (n.2619+28G>A)
c.1341+28G>A (n.1341+28G>A)
c.2169+28G>A (n.2169+28G>A)
c.2145+28G>A (n.2145+28G>A)
n.2550+28G>A
 gnomAD v4
7g.143350682G=CA1748897775CLCN1c.2595+28G= (n.2595+28G=)
c.2419+28G=
n.2535+28G=
c.2619+28G= (n.2619+28G=)
c.1341+28G= (n.1341+28G=)
c.2169+28G= (n.2169+28G=)
c.2145+28G= (n.2145+28G=)
n.2550+28G=
7g.143350682G>TCA4537738CLCN1c.2595+28G>T (n.2595+28G>T)
c.2419+28G>T
n.2535+28G>T
c.2619+28G>T (n.2619+28G>T)
c.1341+28G>T (n.1341+28G>T)
c.2169+28G>T (n.2169+28G>T)
c.2145+28G>T (n.2145+28G>T)
n.2550+28G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143350683C>ACA2685381265CLCN1c.2595+29C>A (n.2595+29C>A)
c.2419+29C>A
n.2535+29C>A
c.2619+29C>A (n.2619+29C>A)
c.1341+29C>A (n.1341+29C>A)
c.2169+29C>A (n.2169+29C>A)
c.2145+29C>A (n.2145+29C>A)
n.2550+29C>A
 gnomAD v4
7g.143350685G>ACA2579051061CLCN1c.2595+31G>A (n.2595+31G>A)
c.2419+31G>A
n.2535+31G>A
c.2619+31G>A (n.2619+31G>A)
c.1341+31G>A (n.1341+31G>A)
c.2169+31G>A (n.2169+31G>A)
c.2145+31G>A (n.2145+31G>A)
n.2550+31G>A
 gnomAD v4
7g.143350688G>TCA2685381269CLCN1c.2595+34G>T (n.2595+34G>T)
c.2419+34G>T
n.2535+34G>T
c.2619+34G>T (n.2619+34G>T)
c.1341+34G>T (n.1341+34G>T)
c.2169+34G>T (n.2169+34G>T)
c.2145+34G>T (n.2145+34G>T)
n.2550+34G>T
 gnomAD v4
7g.143350690G>ACA1748897777CLCN1c.2595+36G>A (n.2595+36G>A)
c.2419+36G>A
n.2535+36G>A
c.2619+36G>A (n.2619+36G>A)
c.1341+36G>A (n.1341+36G>A)
c.2169+36G>A (n.2169+36G>A)
c.2145+36G>A (n.2145+36G>A)
n.2550+36G>A
 dbSNP gnomAD v4
7g.143350690G=CA1748897776CLCN1c.2595+36G= (n.2595+36G=)
c.2419+36G=
n.2535+36G=
c.2619+36G= (n.2619+36G=)
c.1341+36G= (n.1341+36G=)
c.2169+36G= (n.2169+36G=)
c.2145+36G= (n.2145+36G=)
n.2550+36G=
7g.143350690G>TCA2685381278CLCN1c.2595+36G>T (n.2595+36G>T)
c.2419+36G>T
n.2535+36G>T
c.2619+36G>T (n.2619+36G>T)
c.1341+36G>T (n.1341+36G>T)
c.2169+36G>T (n.2169+36G>T)
c.2145+36G>T (n.2145+36G>T)
n.2550+36G>T
 gnomAD v4
7g.143350691A>GCA2685381281CLCN1c.2595+37A>G (n.2595+37A>G)
c.2419+37A>G
n.2535+37A>G
c.2619+37A>G (n.2619+37A>G)
c.1341+37A>G (n.1341+37A>G)
c.2169+37A>G (n.2169+37A>G)
c.2145+37A>G (n.2145+37A>G)
n.2550+37A>G
 gnomAD v4

Number of alleles fetched