Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143350583delCA2740094939CLCN1c.2524del (p.Ser842HisfsTer10)
c.2348del
n.2464del
c.2548del (p.Ser850HisfsTer10)
c.1270del (p.Ser424HisfsTer10)
c.2098del (p.Ser700HisfsTer10)
c.2074del (p.Ser692HisfsTer10)
n.2479del
 ClinVar
7g.143350581T>ACA369653147CLCN1c.2522T>A (p.Phe841Tyr)
c.2346T>A
n.2462T>A
c.2546T>A (p.Phe849Tyr)
c.1268T>A (p.Phe423Tyr)
c.2096T>A (p.Phe699Tyr)
c.2072T>A (p.Phe691Tyr)
n.2477T>A
7g.143350581T>CCA369653148CLCN1c.2522T>C (p.Phe841Ser)
c.2346T>C
n.2462T>C
c.2546T>C (p.Phe849Ser)
c.1268T>C (p.Phe423Ser)
c.2096T>C (p.Phe699Ser)
c.2072T>C (p.Phe691Ser)
n.2477T>C
7g.143350581T>GCA369653149CLCN1c.2522T>G (p.Phe841Cys)
c.2346T>G
n.2462T>G
c.2546T>G (p.Phe849Cys)
c.1268T>G (p.Phe423Cys)
c.2096T>G (p.Phe699Cys)
c.2072T>G (p.Phe691Cys)
n.2477T>G
7g.143350582T>ACA369653151CLCN1c.2523T>A (p.Phe841Leu)
c.2347T>A
n.2463T>A
c.2547T>A (p.Phe849Leu)
c.1269T>A (p.Phe423Leu)
c.2097T>A (p.Phe699Leu)
c.2073T>A (p.Phe691Leu)
n.2478T>A
7g.143350582T>CCA458288646CLCN1c.2523T>C (p.Phe841=)
c.2347T>C
n.2463T>C
c.2547T>C (p.Phe849=)
c.1269T>C (p.Phe423=)
c.2097T>C (p.Phe699=)
c.2073T>C (p.Phe691=)
n.2478T>C
7g.143350582T>GCA369653152CLCN1c.2523T>G (p.Phe841Leu)
c.2347T>G
n.2463T>G
c.2547T>G (p.Phe849Leu)
c.1269T>G (p.Phe423Leu)
c.2097T>G (p.Phe699Leu)
c.2073T>G (p.Phe691Leu)
n.2478T>G
7g.143350583T>ACA369653153CLCN1c.2524T>A (p.Ser842Thr)
c.2348T>A
n.2464T>A
c.2548T>A (p.Ser850Thr)
c.1270T>A (p.Ser424Thr)
c.2098T>A (p.Ser700Thr)
c.2074T>A (p.Ser692Thr)
n.2479T>A
7g.143350583T>CCA369653154CLCN1c.2524T>C (p.Ser842Pro)
c.2348T>C
n.2464T>C
c.2548T>C (p.Ser850Pro)
c.1270T>C (p.Ser424Pro)
c.2098T>C (p.Ser700Pro)
c.2074T>C (p.Ser692Pro)
n.2479T>C
7g.143350583T>GCA369653155CLCN1c.2524T>G (p.Ser842Ala)
c.2348T>G
n.2464T>G
c.2548T>G (p.Ser850Ala)
c.1270T>G (p.Ser424Ala)
c.2098T>G (p.Ser700Ala)
c.2074T>G (p.Ser692Ala)
n.2479T>G
7g.143350584C>ACA369653156CLCN1c.2525C>A (p.Ser842Ter)
c.2349C>A
n.2465C>A
c.2549C>A (p.Ser850Ter)
c.1271C>A (p.Ser424Ter)
c.2099C>A (p.Ser700Ter)
c.2075C>A (p.Ser692Ter)
n.2480C>A
7g.143350584C=CA1748897728CLCN1c.2525C= (p.Ser842=)
c.2349C=
n.2465C=
c.2549C= (p.Ser850=)
c.1271C= (p.Ser424=)
c.2099C= (p.Ser700=)
c.2075C= (p.Ser692=)
n.2480C=
7g.143350584C>GCA369653157CLCN1c.2525C>G (p.Ser842Ter)
c.2349C>G
n.2465C>G
c.2549C>G (p.Ser850Ter)
c.1271C>G (p.Ser424Ter)
c.2099C>G (p.Ser700Ter)
c.2075C>G (p.Ser692Ter)
n.2480C>G
7g.143350584C>TCA168230655CLCN1c.2525C>T (p.Ser842Leu)
c.2349C>T
n.2465C>T
c.2549C>T (p.Ser850Leu)
c.1271C>T (p.Ser424Leu)
c.2099C>T (p.Ser700Leu)
c.2075C>T (p.Ser692Leu)
n.2480C>T
 dbSNP COSMIC
7g.143350585A>CCA458288667CLCN1c.2526A>C (p.Ser842=)
c.2350A>C
n.2466A>C
c.2550A>C (p.Ser850=)
c.1272A>C (p.Ser424=)
c.2100A>C (p.Ser700=)
c.2076A>C (p.Ser692=)
n.2481A>C
7g.143350585A>GCA458288664CLCN1c.2526A>G (p.Ser842=)
c.2350A>G
n.2466A>G
c.2550A>G (p.Ser850=)
c.1272A>G (p.Ser424=)
c.2100A>G (p.Ser700=)
c.2076A>G (p.Ser692=)
n.2481A>G
 ClinVar gnomAD v4
7g.143350585A>TCA458288663CLCN1c.2526A>T (p.Ser842=)
c.2350A>T
n.2466A>T
c.2550A>T (p.Ser850=)
c.1272A>T (p.Ser424=)
c.2100A>T (p.Ser700=)
c.2076A>T (p.Ser692=)
n.2481A>T
7g.143350586C>ACA369653158CLCN1c.2527C>A (p.Leu843Ile)
c.2351C>A
n.2467C>A
c.2551C>A (p.Leu851Ile)
c.1273C>A (p.Leu425Ile)
c.2101C>A (p.Leu701Ile)
c.2077C>A (p.Leu693Ile)
n.2482C>A
7g.143350586C=CA1748897729CLCN1c.2527C= (p.Leu843=)
c.2351C=
n.2467C=
c.2551C= (p.Leu851=)
c.1273C= (p.Leu425=)
c.2101C= (p.Leu701=)
c.2077C= (p.Leu693=)
n.2482C=
7g.143350586C>GCA369653159CLCN1c.2527C>G (p.Leu843Val)
c.2351C>G
n.2467C>G
c.2551C>G (p.Leu851Val)
c.1273C>G (p.Leu425Val)
c.2101C>G (p.Leu701Val)
c.2077C>G (p.Leu693Val)
n.2482C>G
 dbSNP gnomAD v2 gnomAD v4
7g.143350586C>TCA369653160CLCN1c.2527C>T (p.Leu843Phe)
c.2351C>T
n.2467C>T
c.2551C>T (p.Leu851Phe)
c.1273C>T (p.Leu425Phe)
c.2101C>T (p.Leu701Phe)
c.2077C>T (p.Leu693Phe)
n.2482C>T
7g.143350587T>ACA369653162CLCN1c.2528T>A (p.Leu843His)
c.2352T>A
n.2468T>A
c.2552T>A (p.Leu851His)
c.1274T>A (p.Leu425His)
c.2102T>A (p.Leu701His)
c.2078T>A (p.Leu693His)
n.2483T>A
7g.143350587T>CCA369653163CLCN1c.2528T>C (p.Leu843Pro)
c.2352T>C
n.2468T>C
c.2552T>C (p.Leu851Pro)
c.1274T>C (p.Leu425Pro)
c.2102T>C (p.Leu701Pro)
c.2078T>C (p.Leu693Pro)
n.2483T>C
 ClinVar dbSNP
7g.143350587T>GCA369653161CLCN1c.2528T>G (p.Leu843Arg)
c.2352T>G
n.2468T>G
c.2552T>G (p.Leu851Arg)
c.1274T>G (p.Leu425Arg)
c.2102T>G (p.Leu701Arg)
c.2078T>G (p.Leu693Arg)
n.2483T>G
7g.143350587T=CA1748897730CLCN1c.2528T= (p.Leu843=)
c.2352T=
n.2468T=
c.2552T= (p.Leu851=)
c.1274T= (p.Leu425=)
c.2102T= (p.Leu701=)
c.2078T= (p.Leu693=)
n.2483T=
7g.143350588C>ACA458288681CLCN1c.2529C>A (p.Leu843=)
c.2353C>A
n.2469C>A
c.2553C>A (p.Leu851=)
c.1275C>A (p.Leu425=)
c.2103C>A (p.Leu701=)
c.2079C>A (p.Leu693=)
n.2484C>A
7g.143350588C>GCA458288683CLCN1c.2529C>G (p.Leu843=)
c.2353C>G
n.2469C>G
c.2553C>G (p.Leu851=)
c.1275C>G (p.Leu425=)
c.2103C>G (p.Leu701=)
c.2079C>G (p.Leu693=)
n.2484C>G
7g.143350588C>TCA458288685CLCN1c.2529C>T (p.Leu843=)
c.2353C>T
n.2469C>T
c.2553C>T (p.Leu851=)
c.1275C>T (p.Leu425=)
c.2103C>T (p.Leu701=)
c.2079C>T (p.Leu693=)
n.2484C>T
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.143350589C>ACA369653164CLCN1c.2530C>A (p.Leu844Ile)
c.2354C>A
n.2470C>A
c.2554C>A (p.Leu852Ile)
c.1276C>A (p.Leu426Ile)
c.2104C>A (p.Leu702Ile)
c.2080C>A (p.Leu694Ile)
n.2485C>A
7g.143350589C=CA1748897732CLCN1c.2530C= (p.Leu844=)
c.2354C=
n.2470C=
c.2554C= (p.Leu852=)
c.1276C= (p.Leu426=)
c.2104C= (p.Leu702=)
c.2080C= (p.Leu694=)
n.2485C=
7g.143350589C>GCA369653166CLCN1c.2530C>G (p.Leu844Val)
c.2354C>G
n.2470C>G
c.2554C>G (p.Leu852Val)
c.1276C>G (p.Leu426Val)
c.2104C>G (p.Leu702Val)
c.2080C>G (p.Leu694Val)
n.2485C>G
 dbSNP gnomAD v2 gnomAD v4
7g.143350589C>TCA369653167CLCN1c.2530C>T (p.Leu844Phe)
c.2354C>T
n.2470C>T
c.2554C>T (p.Leu852Phe)
c.1276C>T (p.Leu426Phe)
c.2104C>T (p.Leu702Phe)
c.2080C>T (p.Leu694Phe)
n.2485C>T
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.143350590T>ACA369653169CLCN1c.2531T>A (p.Leu844His)
c.2355T>A
n.2471T>A
c.2555T>A (p.Leu852His)
c.1277T>A (p.Leu426His)
c.2105T>A (p.Leu702His)
c.2081T>A (p.Leu694His)
n.2486T>A
7g.143350590T>CCA369653171CLCN1c.2531T>C (p.Leu844Pro)
c.2355T>C
n.2471T>C
c.2555T>C (p.Leu852Pro)
c.1277T>C (p.Leu426Pro)
c.2105T>C (p.Leu702Pro)
c.2081T>C (p.Leu694Pro)
n.2486T>C
 ClinVar dbSNP
7g.143350590T>GCA369653172CLCN1c.2531T>G (p.Leu844Arg)
c.2355T>G
n.2471T>G
c.2555T>G (p.Leu852Arg)
c.1277T>G (p.Leu426Arg)
c.2105T>G (p.Leu702Arg)
c.2081T>G (p.Leu694Arg)
n.2486T>G
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=

Number of alleles fetched