Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143351941_143351943delCA2685383275CLCN1c.2943_2945del (p.Glu981del)
n.2883_2885del
c.2967_2969del (p.Glu989del)
c.1689_1691del (p.Glu563del)
c.2517_2519del (p.Glu839del)
c.2493_2495del (p.Glu831del)
n.2898_2900del
 gnomAD v4
7g.143351943A=CA1748898407CLCN1c.2945A= (p.Asp982=)
n.2885A=
c.2969A= (p.Asp990=)
c.1691A= (p.Asp564=)
c.2519A= (p.Asp840=)
c.2495A= (p.Asp832=)
n.2900A=
7g.143351943A>CCA369654302CLCN1c.2945A>C (p.Asp982Ala)
n.2885A>C
c.2969A>C (p.Asp990Ala)
c.1691A>C (p.Asp564Ala)
c.2519A>C (p.Asp840Ala)
c.2495A>C (p.Asp832Ala)
n.2900A>C
 ClinVar dbSNP gnomAD v4
7g.143351943A>GCA369654304CLCN1c.2945A>G (p.Asp982Gly)
n.2885A>G
c.2969A>G (p.Asp990Gly)
c.1691A>G (p.Asp564Gly)
c.2519A>G (p.Asp840Gly)
c.2495A>G (p.Asp832Gly)
n.2900A>G
7g.143351943A>TCA369654306CLCN1c.2945A>T (p.Asp982Val)
n.2885A>T
c.2969A>T (p.Asp990Val)
c.1691A>T (p.Asp564Val)
c.2519A>T (p.Asp840Val)
c.2495A>T (p.Asp832Val)
n.2900A>T
7g.143351944T>ACA369654307CLCN1c.2946T>A (p.Asp982Glu)
n.2886T>A
c.2970T>A (p.Asp990Glu)
c.1692T>A (p.Asp564Glu)
c.2520T>A (p.Asp840Glu)
c.2496T>A (p.Asp832Glu)
n.2901T>A
7g.143351944T>CCA458542672CLCN1c.2946T>C (p.Asp982=)
n.2886T>C
c.2970T>C (p.Asp990=)
c.1692T>C (p.Asp564=)
c.2520T>C (p.Asp840=)
c.2496T>C (p.Asp832=)
n.2901T>C
7g.143351944T>GCA369654308CLCN1c.2946T>G (p.Asp982Glu)
n.2886T>G
c.2970T>G (p.Asp990Glu)
c.1692T>G (p.Asp564Glu)
c.2520T>G (p.Asp840Glu)
c.2496T>G (p.Asp832Glu)
n.2901T>G
7g.143351945G>ACA369654310CLCN1c.2947G>A (p.Glu983Lys)
n.2887G>A
c.2971G>A (p.Glu991Lys)
c.1693G>A (p.Glu565Lys)
c.2521G>A (p.Glu841Lys)
c.2497G>A (p.Glu833Lys)
n.2902G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351945G>CCA369654312CLCN1c.2947G>C (p.Glu983Gln)
n.2887G>C
c.2971G>C (p.Glu991Gln)
c.1693G>C (p.Glu565Gln)
c.2521G>C (p.Glu841Gln)
c.2497G>C (p.Glu833Gln)
n.2902G>C
7g.143351945G=CA1748898408CLCN1c.2947G= (p.Glu983=)
n.2887G=
c.2971G= (p.Glu991=)
c.1693G= (p.Glu565=)
c.2521G= (p.Glu841=)
c.2497G= (p.Glu833=)
n.2902G=
7g.143351945G>TCA369654314CLCN1c.2947G>T (p.Glu983Ter)
n.2887G>T
c.2971G>T (p.Glu991Ter)
c.1693G>T (p.Glu565Ter)
c.2521G>T (p.Glu841Ter)
c.2497G>T (p.Glu833Ter)
n.2902G>T
7g.143351946A>CCA369654315CLCN1c.2948A>C (p.Glu983Ala)
n.2888A>C
c.2972A>C (p.Glu991Ala)
c.1694A>C (p.Glu565Ala)
c.2522A>C (p.Glu841Ala)
c.2498A>C (p.Glu833Ala)
n.2903A>C
7g.143351946A>GCA369654316CLCN1c.2948A>G (p.Glu983Gly)
n.2888A>G
c.2972A>G (p.Glu991Gly)
c.1694A>G (p.Glu565Gly)
c.2522A>G (p.Glu841Gly)
c.2498A>G (p.Glu833Gly)
n.2903A>G
7g.143351946A>TCA369654317CLCN1c.2948A>T (p.Glu983Val)
n.2888A>T
c.2972A>T (p.Glu991Val)
c.1694A>T (p.Glu565Val)
c.2522A>T (p.Glu841Val)
c.2498A>T (p.Glu833Val)
n.2903A>T
7g.143351947G>ACA458542681CLCN1c.2949G>A (p.Glu983=)
n.2889G>A
c.2973G>A (p.Glu991=)
c.1695G>A (p.Glu565=)
c.2523G>A (p.Glu841=)
c.2499G>A (p.Glu833=)
n.2904G>A
 dbSNP gnomAD v3 gnomAD v4
7g.143351947G>CCA369654319CLCN1c.2949G>C (p.Glu983Asp)
n.2889G>C
c.2973G>C (p.Glu991Asp)
c.1695G>C (p.Glu565Asp)
c.2523G>C (p.Glu841Asp)
c.2499G>C (p.Glu833Asp)
n.2904G>C
7g.143351947G=CA1748898409CLCN1c.2949G= (p.Glu983=)
n.2889G=
c.2973G= (p.Glu991=)
c.1695G= (p.Glu565=)
c.2523G= (p.Glu841=)
c.2499G= (p.Glu833=)
n.2904G=
7g.143351947G>TCA369654321CLCN1c.2949G>T (p.Glu983Asp)
n.2889G>T
c.2973G>T (p.Glu991Asp)
c.1695G>T (p.Glu565Asp)
c.2523G>T (p.Glu841Asp)
c.2499G>T (p.Glu833Asp)
n.2904G>T
7g.143351948G>ACA369654322CLCN1c.2950G>A (p.Asp984Asn)
n.2890G>A
c.2974G>A (p.Asp992Asn)
c.1696G>A (p.Asp566Asn)
c.2524G>A (p.Asp842Asn)
c.2500G>A (p.Asp834Asn)
n.2905G>A
 COSMIC
7g.143351948G>CCA369654325CLCN1c.2950G>C (p.Asp984His)
n.2890G>C
c.2974G>C (p.Asp992His)
c.1696G>C (p.Asp566His)
c.2524G>C (p.Asp842His)
c.2500G>C (p.Asp834His)
n.2905G>C
7g.143351948G>TCA369654323CLCN1c.2950G>T (p.Asp984Tyr)
n.2890G>T
c.2974G>T (p.Asp992Tyr)
c.1696G>T (p.Asp566Tyr)
c.2524G>T (p.Asp842Tyr)
c.2500G>T (p.Asp834Tyr)
n.2905G>T
7g.143351949A>CCA369654327CLCN1c.2951A>C (p.Asp984Ala)
n.2891A>C
c.2975A>C (p.Asp992Ala)
c.1697A>C (p.Asp566Ala)
c.2525A>C (p.Asp842Ala)
c.2501A>C (p.Asp834Ala)
n.2906A>C
7g.143351949A>GCA369654328CLCN1c.2951A>G (p.Asp984Gly)
n.2891A>G
c.2975A>G (p.Asp992Gly)
c.1697A>G (p.Asp566Gly)
c.2525A>G (p.Asp842Gly)
c.2501A>G (p.Asp834Gly)
n.2906A>G
 gnomAD v4
7g.143351949A>TCA369654330CLCN1c.2951A>T (p.Asp984Val)
n.2891A>T
c.2975A>T (p.Asp992Val)
c.1697A>T (p.Asp566Val)
c.2525A>T (p.Asp842Val)
c.2501A>T (p.Asp834Val)
n.2906A>T
7g.143351950T>ACA369654332CLCN1c.2952T>A (p.Asp984Glu)
n.2892T>A
c.2976T>A (p.Asp992Glu)
c.1698T>A (p.Asp566Glu)
c.2526T>A (p.Asp842Glu)
c.2502T>A (p.Asp834Glu)
n.2907T>A
7g.143351950T>CCA458542691CLCN1c.2952T>C (p.Asp984=)
n.2892T>C
c.2976T>C (p.Asp992=)
c.1698T>C (p.Asp566=)
c.2526T>C (p.Asp842=)
c.2502T>C (p.Asp834=)
n.2907T>C
7g.143351950T>GCA369654333CLCN1c.2952T>G (p.Asp984Glu)
n.2892T>G
c.2976T>G (p.Asp992Glu)
c.1698T>G (p.Asp566Glu)
c.2526T>G (p.Asp842Glu)
c.2502T>G (p.Asp834Glu)
n.2907T>G
7g.143351951G>ACA369654335CLCN1c.2953G>A (p.Glu985Lys)
n.2893G>A
c.2977G>A (p.Glu993Lys)
c.1699G>A (p.Glu567Lys)
c.2527G>A (p.Glu843Lys)
c.2503G>A (p.Glu835Lys)
n.2908G>A
 COSMIC
7g.143351951G>CCA369654337CLCN1c.2953G>C (p.Glu985Gln)
n.2893G>C
c.2977G>C (p.Glu993Gln)
c.1699G>C (p.Glu567Gln)
c.2527G>C (p.Glu843Gln)
c.2503G>C (p.Glu835Gln)
n.2908G>C
7g.143351951G>TCA369654338CLCN1c.2953G>T (p.Glu985Ter)
n.2893G>T
c.2977G>T (p.Glu993Ter)
c.1699G>T (p.Glu567Ter)
c.2527G>T (p.Glu843Ter)
c.2503G>T (p.Glu835Ter)
n.2908G>T
7g.143351952A>CCA369654340CLCN1c.2954A>C (p.Glu985Ala)
n.2894A>C
c.2978A>C (p.Glu993Ala)
c.1700A>C (p.Glu567Ala)
c.2528A>C (p.Glu843Ala)
c.2504A>C (p.Glu835Ala)
n.2909A>C
7g.143351952A>GCA369654341CLCN1c.2954A>G (p.Glu985Gly)
n.2894A>G
c.2978A>G (p.Glu993Gly)
c.1700A>G (p.Glu567Gly)
c.2528A>G (p.Glu843Gly)
c.2504A>G (p.Glu835Gly)
n.2909A>G
7g.143351952A>TCA369654343CLCN1c.2954A>T (p.Glu985Val)
n.2894A>T
c.2978A>T (p.Glu993Val)
c.1700A>T (p.Glu567Val)
c.2528A>T (p.Glu843Val)
c.2504A>T (p.Glu835Val)
n.2909A>T
7g.143351953A>CCA369654345CLCN1c.2955A>C (p.Glu985Asp)
n.2895A>C
c.2979A>C (p.Glu993Asp)
c.1701A>C (p.Glu567Asp)
c.2529A>C (p.Glu843Asp)
c.2505A>C (p.Glu835Asp)
n.2910A>C
7g.143351953A>GCA458542697CLCN1c.2955A>G (p.Glu985=)
n.2895A>G
c.2979A>G (p.Glu993=)
c.1701A>G (p.Glu567=)
c.2529A>G (p.Glu843=)
c.2505A>G (p.Glu835=)
n.2910A>G
7g.143351953A>TCA369654346CLCN1c.2955A>T (p.Glu985Asp)
n.2895A>T
c.2979A>T (p.Glu993Asp)
c.1701A>T (p.Glu567Asp)
c.2529A>T (p.Glu843Asp)
c.2505A>T (p.Glu835Asp)
n.2910A>T
7g.143351954C>ACA369654347CLCN1c.2956C>A (p.Leu986Met)
n.2896C>A
c.2980C>A (p.Leu994Met)
c.1702C>A (p.Leu568Met)
c.2530C>A (p.Leu844Met)
c.2506C>A (p.Leu836Met)
n.2911C>A
7g.143351954C=CA1748898410CLCN1c.2956C= (p.Leu986=)
n.2896C=
c.2980C= (p.Leu994=)
c.1702C= (p.Leu568=)
c.2530C= (p.Leu844=)
c.2506C= (p.Leu836=)
n.2911C=
7g.143351954C>GCA369654349CLCN1c.2956C>G (p.Leu986Val)
n.2896C>G
c.2980C>G (p.Leu994Val)
c.1702C>G (p.Leu568Val)
c.2530C>G (p.Leu844Val)
c.2506C>G (p.Leu836Val)
n.2911C>G
 dbSNP gnomAD v2
7g.143351954C>TCA458542698CLCN1c.2956C>T (p.Leu986=)
n.2896C>T
c.2980C>T (p.Leu994=)
c.1702C>T (p.Leu568=)
c.2530C>T (p.Leu844=)
c.2506C>T (p.Leu836=)
n.2911C>T
 gnomAD v4
7g.143351955T>ACA369654351CLCN1c.2957T>A (p.Leu986Gln)
n.2897T>A
c.2981T>A (p.Leu994Gln)
c.1703T>A (p.Leu568Gln)
c.2531T>A (p.Leu844Gln)
c.2507T>A (p.Leu836Gln)
n.2912T>A
 dbSNP
7g.143351955T>CCA369654352CLCN1c.2957T>C (p.Leu986Pro)
n.2897T>C
c.2981T>C (p.Leu994Pro)
c.1703T>C (p.Leu568Pro)
c.2531T>C (p.Leu844Pro)
c.2507T>C (p.Leu836Pro)
n.2912T>C
7g.143351955T>GCA369654353CLCN1c.2957T>G (p.Leu986Arg)
n.2897T>G
c.2981T>G (p.Leu994Arg)
c.1703T>G (p.Leu568Arg)
c.2531T>G (p.Leu844Arg)
c.2507T>G (p.Leu836Arg)
n.2912T>G
7g.143351955T=CA1748898411CLCN1c.2957T= (p.Leu986=)
n.2897T=
c.2981T= (p.Leu994=)
c.1703T= (p.Leu568=)
c.2531T= (p.Leu844=)
c.2507T= (p.Leu836=)
n.2912T=
7g.143351956G>ACA458542700CLCN1c.2958G>A (p.Leu986=)
n.2898G>A
c.2982G>A (p.Leu994=)
c.1704G>A (p.Leu568=)
c.2532G>A (p.Leu844=)
c.2508G>A (p.Leu836=)
n.2913G>A
 gnomAD v4 COSMIC
7g.143351956G>CCA458542701CLCN1c.2958G>C (p.Leu986=)
n.2898G>C
c.2982G>C (p.Leu994=)
c.1704G>C (p.Leu568=)
c.2532G>C (p.Leu844=)
c.2508G>C (p.Leu836=)
n.2913G>C
 gnomAD v4
7g.143351956G=CA1748898412CLCN1c.2958G= (p.Leu986=)
n.2898G=
c.2982G= (p.Leu994=)
c.1704G= (p.Leu568=)
c.2532G= (p.Leu844=)
c.2508G= (p.Leu836=)
n.2913G=
7g.143351956G>TCA458542702CLCN1c.2958G>T (p.Leu986=)
n.2898G>T
c.2982G>T (p.Leu994=)
c.1704G>T (p.Leu568=)
c.2532G>T (p.Leu844=)
c.2508G>T (p.Leu836=)
n.2913G>T
 dbSNP gnomAD v2
7g.143351957A=CA1748898413CLCN1c.2959A= (p.Ile987=)
n.2899A=
c.2983A= (p.Ile995=)
c.1705A= (p.Ile569=)
c.2533A= (p.Ile845=)
c.2509A= (p.Ile837=)
n.2914A=
7g.143351957A>CCA369654354CLCN1c.2959A>C (p.Ile987Leu)
n.2899A>C
c.2983A>C (p.Ile995Leu)
c.1705A>C (p.Ile569Leu)
c.2533A>C (p.Ile845Leu)
c.2509A>C (p.Ile837Leu)
n.2914A>C
 ClinVar
7g.143351957A>GCA369654355CLCN1c.2959A>G (p.Ile987Val)
n.2899A>G
c.2983A>G (p.Ile995Val)
c.1705A>G (p.Ile569Val)
c.2533A>G (p.Ile845Val)
c.2509A>G (p.Ile837Val)
n.2914A>G
 dbSNP gnomAD v3 gnomAD v4
7g.143351957A>TCA369654356CLCN1c.2959A>T (p.Ile987Phe)
n.2899A>T
c.2983A>T (p.Ile995Phe)
c.1705A>T (p.Ile569Phe)
c.2533A>T (p.Ile845Phe)
c.2509A>T (p.Ile837Phe)
n.2914A>T
7g.143351958T>ACA369654360CLCN1c.2960T>A (p.Ile987Asn)
n.2900T>A
c.2984T>A (p.Ile995Asn)
c.1706T>A (p.Ile569Asn)
c.2534T>A (p.Ile845Asn)
c.2510T>A (p.Ile837Asn)
n.2915T>A
 ClinVar gnomAD v4
7g.143351958T>CCA369654357CLCN1c.2960T>C (p.Ile987Thr)
n.2900T>C
c.2984T>C (p.Ile995Thr)
c.1706T>C (p.Ile569Thr)
c.2534T>C (p.Ile845Thr)
c.2510T>C (p.Ile837Thr)
n.2915T>C
7g.143351958T>GCA369654359CLCN1c.2960T>G (p.Ile987Ser)
n.2900T>G
c.2984T>G (p.Ile995Ser)
c.1706T>G (p.Ile569Ser)
c.2534T>G (p.Ile845Ser)
c.2510T>G (p.Ile837Ser)
n.2915T>G
7g.143351958_143351959delinsTCCA1748898414CLCN1c.2960_2961delinsTC (p.Ile987=)
n.2900_2901delinsTC
c.2984_2985delinsTC (p.Ile995=)
c.1706_1707delinsTC (p.Ile569=)
c.2534_2535delinsTC (p.Ile845=)
c.2510_2511delinsTC (p.Ile837=)
n.2915_2916delinsTC
7g.143351959C>ACA458542705CLCN1c.2961C>A (p.Ile987=)
n.2901C>A
c.2985C>A (p.Ile995=)
c.1707C>A (p.Ile569=)
c.2535C>A (p.Ile845=)
c.2511C>A (p.Ile837=)
n.2916C>A
7g.143351959C=CA1748898415CLCN1c.2961C= (p.Ile987=)
n.2901C=
c.2985C= (p.Ile995=)
c.1707C= (p.Ile569=)
c.2535C= (p.Ile845=)
c.2511C= (p.Ile837=)
n.2916C=
7g.143351959C>GCA369654361CLCN1c.2961C>G (p.Ile987Met)
n.2901C>G
c.2985C>G (p.Ile995Met)
c.1707C>G (p.Ile569Met)
c.2535C>G (p.Ile845Met)
c.2511C>G (p.Ile837Met)
n.2916C>G
7g.143351959C>TCA458542704CLCN1c.2961C>T (p.Ile987=)
n.2901C>T
c.2985C>T (p.Ile995=)
c.1707C>T (p.Ile569=)
c.2535C>T (p.Ile845=)
c.2511C>T (p.Ile837=)
n.2916C>T
 ClinVar dbSNP
7g.143351960delCA4537820CLCN1c.2962del (p.Leu988PhefsTer?)
n.2902del
c.2986del (p.Leu996PhefsTer?)
c.1708del (p.Leu570PhefsTer?)
c.2536del (p.Leu846PhefsTer?)
c.2512del (p.Leu838PhefsTer?)
n.2917del
 ClinVar dbSNP ExAC gnomAD v2
7g.143351960C>ACA369654363CLCN1c.2962C>A (p.Leu988Ile)
n.2902C>A
c.2986C>A (p.Leu996Ile)
c.1708C>A (p.Leu570Ile)
c.2536C>A (p.Leu846Ile)
c.2512C>A (p.Leu838Ile)
n.2917C>A
7g.143351960C=CA1748898416CLCN1c.2962C= (p.Leu988=)
n.2902C=
c.2986C= (p.Leu996=)
c.1708C= (p.Leu570=)
c.2536C= (p.Leu846=)
c.2512C= (p.Leu838=)
n.2917C=
7g.143351960C>GCA369654364CLCN1c.2962C>G (p.Leu988Val)
n.2902C>G
c.2986C>G (p.Leu996Val)
c.1708C>G (p.Leu570Val)
c.2536C>G (p.Leu846Val)
c.2512C>G (p.Leu838Val)
n.2917C>G
 ClinVar dbSNP
7g.143351960C>TCA369654365CLCN1c.2962C>T (p.Leu988Phe)
n.2902C>T
c.2986C>T (p.Leu996Phe)
c.1708C>T (p.Leu570Phe)
c.2536C>T (p.Leu846Phe)
c.2512C>T (p.Leu838Phe)
n.2917C>T
 gnomAD v4
7g.143351961T>ACA369654367CLCN1c.2963T>A (p.Leu988His)
n.2903T>A
c.2987T>A (p.Leu996His)
c.1709T>A (p.Leu570His)
c.2537T>A (p.Leu846His)
c.2513T>A (p.Leu838His)
n.2918T>A
7g.143351961T>CCA369654370CLCN1c.2963T>C (p.Leu988Pro)
n.2903T>C
c.2987T>C (p.Leu996Pro)
c.1709T>C (p.Leu570Pro)
c.2537T>C (p.Leu846Pro)
c.2513T>C (p.Leu838Pro)
n.2918T>C
7g.143351961T>GCA369654368CLCN1c.2963T>G (p.Leu988Arg)
n.2903T>G
c.2987T>G (p.Leu996Arg)
c.1709T>G (p.Leu570Arg)
c.2537T>G (p.Leu846Arg)
c.2513T>G (p.Leu838Arg)
n.2918T>G
 gnomAD v4
7g.143351962T>ACA458542707CLCN1c.2964T>A (p.Leu988=)
n.2904T>A
c.2988T>A (p.Leu996=)
c.1710T>A (p.Leu570=)
c.2538T>A (p.Leu846=)
c.2514T>A (p.Leu838=)
n.2919T>A
7g.143351962T>CCA458542708CLCN1c.2964T>C (p.Leu988=)
n.2904T>C
c.2988T>C (p.Leu996=)
c.1710T>C (p.Leu570=)
c.2538T>C (p.Leu846=)
c.2514T>C (p.Leu838=)
n.2919T>C
 gnomAD v4
7g.143351962T>GCA458542710CLCN1c.2964T>G (p.Leu988=)
n.2904T>G
c.2988T>G (p.Leu996=)
c.1710T>G (p.Leu570=)
c.2538T>G (p.Leu846=)
c.2514T>G (p.Leu838=)
n.2919T>G
7g.143351963T>ACA369654372CLCN1c.2965T>A (p.Ter989Arg)
n.2905T>A
c.2989T>A (p.Ter997Arg)
c.1711T>A (p.Ter571Arg)
c.2539T>A (p.Ter847Arg)
c.2515T>A (p.Ter839Arg)
n.2920T>A
7g.143351963T>CCA369654374CLCN1c.2965T>C (p.Ter989Arg)
n.2905T>C
c.2989T>C (p.Ter997Arg)
c.1711T>C (p.Ter571Arg)
c.2539T>C (p.Ter847Arg)
c.2515T>C (p.Ter839Arg)
n.2920T>C
7g.143351963T>GCA369654375CLCN1c.2965T>G (p.Ter989Gly)
n.2905T>G
c.2989T>G (p.Ter997Gly)
c.1711T>G (p.Ter571Gly)
c.2539T>G (p.Ter847Gly)
c.2515T>G (p.Ter839Gly)
n.2920T>G
7g.143351964G>ACA458542711CLCN1c.2966G>A (p.Ter989=)
n.2906G>A
c.2990G>A (p.Ter997=)
c.1712G>A (p.Ter571=)
c.2540G>A (p.Ter847=)
c.2516G>A (p.Ter839=)
n.2921G>A
7g.143351964G>CCA369654377CLCN1c.2966G>C (p.Ter989Ser)
n.2906G>C
c.2990G>C (p.Ter997Ser)
c.1712G>C (p.Ter571Ser)
c.2540G>C (p.Ter847Ser)
c.2516G>C (p.Ter839Ser)
n.2921G>C
7g.143351964G>TCA369654379CLCN1c.2966G>T (p.Ter989Leu)
n.2906G>T
c.2990G>T (p.Ter997Leu)
c.1712G>T (p.Ter571Leu)
c.2540G>T (p.Ter847Leu)
c.2516G>T (p.Ter839Leu)
n.2921G>T
7g.143351965A=CA1748898417CLCN1c.2967A= (p.Ter989=)
n.2907A=
c.2991A= (p.Ter997=)
c.1713A= (p.Ter571=)
c.2541A= (p.Ter847=)
c.2517A= (p.Ter839=)
n.2922A=
7g.143351965A>CCA369654381CLCN1c.2967A>C (p.Ter989Cys)
n.2907A>C
c.2991A>C (p.Ter997Cys)
c.1713A>C (p.Ter571Cys)
c.2541A>C (p.Ter847Cys)
c.2517A>C (p.Ter839Cys)
n.2922A>C
7g.143351965A>GCA369654382CLCN1c.2967A>G (p.Ter989Trp)
n.2907A>G
c.2991A>G (p.Ter997Trp)
c.1713A>G (p.Ter571Trp)
c.2541A>G (p.Ter847Trp)
c.2517A>G (p.Ter839Trp)
n.2922A>G
7g.143351965A>TCA369654383CLCN1c.2967A>T (p.Ter989Cys)
n.2907A>T
c.2991A>T (p.Ter997Cys)
c.1713A>T (p.Ter571Cys)
c.2541A>T (p.Ter847Cys)
c.2517A>T (p.Ter839Cys)
n.2922A>T
7g.143351966C>ACA2685383355CLCN1c.*1C>A (n.*1C>A)
n.2908C>A
n.2923C>A
 gnomAD v4
7g.143351966C=CA1748898418CLCN1c.*1C= (n.*1C=)
n.2908C=
n.2923C=
7g.143351966C>GCA578626912CLCN1c.*1C>G (n.*1C>G)
n.2908C>G
n.2923C>G
 dbSNP gnomAD v2 gnomAD v4
7g.143351966C>TCA1748898419CLCN1c.*1C>T (n.*1C>T)
n.2908C>T
n.2923C>T
 dbSNP gnomAD v4
7g.143351970dupCA578626911CLCN1c.*5dup (n.*5dup)
n.2912dup
n.2927dup
 dbSNP gnomAD v2 gnomAD v4
7g.143351967C=CA1748898420CLCN1c.*2C= (n.*2C=)
n.2909C=
n.2924C=
7g.143351967C>TCA4537821CLCN1c.*2C>T (n.*2C>T)
n.2909C>T
n.2924C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351969C>ACA2685383362CLCN1c.*4C>A (n.*4C>A)
n.2911C>A
n.2926C>A
 gnomAD v4
7g.143351969C=CA1748898421CLCN1c.*4C= (n.*4C=)
n.2911C=
n.2926C=
7g.143351969C>GCA578626913CLCN1c.*4C>G (n.*4C>G)
n.2911C>G
n.2926C>G
 dbSNP gnomAD v2 gnomAD v4
7g.143351972C>ACA2778231042CLCN1c.*7C>A (n.*7C>A)
n.2914C>A
n.2929C>A
7g.143351972C=CA1748898422CLCN1c.*7C= (n.*7C=)
n.2914C=
n.2929C=
7g.143351972C>GCA578626914CLCN1c.*7C>G (n.*7C>G)
n.2914C>G
n.2929C>G
 dbSNP gnomAD v2 gnomAD v4
7g.143351973C=CA1748898423CLCN1c.*8C= (n.*8C=)
n.2915C=
n.2930C=
7g.143351973C>TCA4537822CLCN1c.*8C>T (n.*8C>T)
n.2915C>T
n.2930C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351974C>ACA2579051081CLCN1c.*9C>A (n.*9C>A)
n.2916C>A
n.2931C>A
7g.143351975A=CA1748898424CLCN1c.*10A= (n.*10A=)
n.2917A=
n.2932A=
7g.143351975A>GCA578626915CLCN1c.*10A>G (n.*10A>G)
n.2917A>G
n.2932A>G
 dbSNP gnomAD v2 gnomAD v4
7g.143351976C=CA1748898425CLCN1c.*11C= (n.*11C=)
n.2918C=
n.2933C=
7g.143351976C>TCA4537823CLCN1c.*11C>T (n.*11C>T)
n.2918C>T
n.2933C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351977G>ACA168231845CLCN1c.*12G>A (n.*12G>A)
n.2919G>A
n.2934G>A
 dbSNP gnomAD v4
7g.143351977G=CA1748898426CLCN1c.*12G= (n.*12G=)
n.2919G=
n.2934G=
7g.143351980C>ACA4537824CLCN1c.*15C>A (n.*15C>A)
n.2922C>A
n.2937C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351980C=CA1748898427CLCN1c.*15C= (n.*15C=)
n.2922C=
n.2937C=
7g.143351980C>TCA4537825CLCN1c.*15C>T (n.*15C>T)
n.2922C>T
n.2937C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351982C=CA1748898428CLCN1c.*17C= (n.*17C=)
n.2924C=
n.2939C=
7g.143351982C>GCA4537826CLCN1c.*17C>G (n.*17C>G)
n.2924C>G
n.2939C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351982C>TCA1748898429CLCN1c.*17C>T (n.*17C>T)
n.2924C>T
n.2939C>T
 dbSNP
7g.143351983C=CA1748898430CLCN1c.*18C= (n.*18C=)
n.2925C=
n.2940C=
7g.143351983C>TCA4537827CLCN1c.*18C>T (n.*18C>T)
n.2925C>T
n.2940C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351985C=CA1748898431CLCN1c.*20C= (n.*20C=)
n.2927C=
n.2942C=
7g.143351985C>GCA4537828CLCN1c.*20C>G (n.*20C>G)
n.2927C>G
n.2942C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351985C>TCA2685383408CLCN1c.*20C>T (n.*20C>T)
n.2927C>T
n.2942C>T
 gnomAD v4
7g.143351987T>ACA4537829CLCN1c.*22T>A (n.*22T>A)
n.2929T>A
n.2944T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351987T=CA1748898432CLCN1c.*22T= (n.*22T=)
n.2929T=
n.2944T=
7g.143351988A=CA1748898433CLCN1c.*23A= (n.*23A=)
n.2930A=
n.2945A=
7g.143351988A>GCA4537830CLCN1c.*23A>G (n.*23A>G)
n.2930A>G
n.2945A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351993C=CA1748898434CLCN1c.*28C= (n.*28C=)
n.2935C=
n.2950C=
7g.143351993C>TCA578626916CLCN1c.*28C>T (n.*28C>T)
n.2935C>T
n.2950C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143351994C>ACA4537831CLCN1c.*29C>A (n.*29C>A)
n.2936C>A
n.2951C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351994C=CA1748898435CLCN1c.*29C= (n.*29C=)
n.2936C=
n.2951C=
7g.143351994C>TCA4537832CLCN1c.*29C>T (n.*29C>T)
n.2936C>T
n.2951C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351995G>ACA4537833CLCN1c.*30G>A (n.*30G>A)
n.2937G>A
n.2952G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351995G=CA1748898436CLCN1c.*30G= (n.*30G=)
n.2937G=
n.2952G=
7g.143351995G>TCA2579051082CLCN1c.*30G>T (n.*30G>T)
n.2937G>T
n.2952G>T
7g.143351997G>ACA2685383450CLCN1c.*32G>A (n.*32G>A)
n.2939G>A
n.2954G>A
 gnomAD v4
7g.143351999A>GCA2685383454CLCN1c.*34A>G (n.*34A>G)
n.2941A>G
n.2956A>G
 gnomAD v4
7g.143352001A>TCA2685383457CLCN1c.*36A>T (n.*36A>T)
n.2943A>T
n.2958A>T
 gnomAD v4
7g.143352002G>ACA2685383533CLCN1c.*37G>A (n.*37G>A)
n.2944G>A
n.2959G>A
 gnomAD v4
7g.143352002G>TCA2685383534CLCN1c.*37G>T (n.*37G>T)
n.2944G>T
n.2959G>T
 gnomAD v4
7g.143352003G>CCA1748898438CLCN1c.*38G>C (n.*38G>C)
n.2945G>C
n.2960G>C
 dbSNP
7g.143352003G=CA1748898437CLCN1c.*38G= (n.*38G=)
n.2945G=
n.2960G=
7g.143352004C=CA1748898439CLCN1c.*39C= (n.*39C=)
n.2946C=
n.2961C=
7g.143352004C>GCA1108133785CLCN1c.*39C>G (n.*39C>G)
n.2946C>G
n.2961C>G
 dbSNP gnomAD v3 gnomAD v4
7g.143352004C>TCA578626917CLCN1c.*39C>T (n.*39C>T)
n.2946C>T
n.2961C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143352005C=CA1748898440CLCN1c.*40C= (n.*40C=)
n.2962C=
7g.143352005C>TCA1108133786CLCN1c.*40C>T (n.*40C>T)
n.2962C>T
 dbSNP gnomAD v3 gnomAD v4
7g.143352006C>ACA2579051083CLCN1c.*41C>A (n.*41C>A)
n.2963C>A
7g.143352008G>ACA834502548CLCN1c.*43G>A (n.*43G>A)
n.2965G>A
 dbSNP gnomAD v3 gnomAD v4
7g.143352008G>CCA1108133794CLCN1c.*43G>C (n.*43G>C)
n.2965G>C
 dbSNP gnomAD v3 gnomAD v4
7g.143352008G=CA1748898441CLCN1c.*43G= (n.*43G=)
n.2965G=
7g.143352009C>ACA1748898444CLCN1c.*44C>A (n.*44C>A)
n.2966C>A
 dbSNP
7g.143352009C=CA1748898443CLCN1c.*44C= (n.*44C=)
n.2966C=
7g.143352009C>GCA1748898445CLCN1c.*44C>G (n.*44C>G)
n.2966C>G
 dbSNP
7g.143352009C>TCA1748898446CLCN1c.*44C>T (n.*44C>T)
n.2966C>T
 dbSNP
7g.143352009_143352010insTACCACCCA1748898442CLCN1c.*44_*45insTACCACC (n.*44_*45insTACCACC)
n.2966_2967insTACCACC
 dbSNP
7g.143352010C=CA1748898447CLCN1c.*45C= (n.*45C=)
n.2967C=
7g.143352010C>GCA1748898448CLCN1c.*45C>G (n.*45C>G)
n.2967C>G
 dbSNP
7g.143352012G>TCA2685383540CLCN1c.*47G>T (n.*47G>T)
n.2969G>T
 gnomAD v4
7g.143352015G>TCA2685383545CLCN1c.*50G>T (n.*50G>T)
n.2972G>T
 gnomAD v4
7g.143352016G>ACA1108133798CLCN1c.*51G>A (n.*51G>A)
n.2973G>A
 dbSNP gnomAD v3 gnomAD v4
7g.143352016G=CA1748898449CLCN1c.*51G= (n.*51G=)
n.2973G=
7g.143352018G>ACA4537834CLCN1c.*53G>A (n.*53G>A)
n.2975G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143352018G=CA1748898450CLCN1c.*53G= (n.*53G=)
n.2975G=
7g.143352018G>TCA1108133803CLCN1c.*53G>T (n.*53G>T)
n.2975G>T
 dbSNP
7g.143352019A>CCA2685383552CLCN1c.*54A>C (n.*54A>C)
n.2976A>C
 gnomAD v4
7g.143352021C=CA1748898451CLCN1c.*56C= (n.*56C=)
n.2978C=
7g.143352021C>GCA4537835CLCN1c.*56C>G (n.*56C>G)
n.2978C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143352021C>TCA2685383560CLCN1c.*56C>T (n.*56C>T)
n.2978C>T
 gnomAD v4
7g.143352024G>ACA2685383565CLCN1c.*59G>A (n.*59G>A)
n.2981G>A
 gnomAD v4
7g.143352024G>CCA2685383566CLCN1c.*59G>C (n.*59G>C)
n.2981G>C
 gnomAD v4
7g.143352024G=CA1748898452CLCN1c.*59G= (n.*59G=)
n.2981G=
7g.143352024G>TCA1748898453CLCN1c.*59G>T (n.*59G>T)
n.2981G>T
 dbSNP gnomAD v4
7g.143352025T>ACA2685383567CLCN1c.*60T>A (n.*60T>A)
n.2982T>A
 gnomAD v4
7g.143352026G=CA1748898454CLCN1c.*61G= (n.*61G=)
n.2983G=
7g.143352026G>TCA4537836CLCN1c.*61G>T (n.*61G>T)
n.2983G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143352027dupCA2778231043CLCN1c.*62dup (n.*62dup)
n.2984dup
7g.143352028G>TCA2685383574CLCN1c.*63G>T (n.*63G>T)
n.2985G>T
 gnomAD v4
7g.143352030_143352031insTGTGTTTCA2778231044CLCN1c.*65_*66insTGTGTTT (n.*65_*66insTGTGTTT)
n.2987_2988insTGTGTTT
7g.143352031G>ACA1748898456CLCN1c.*66G>A (n.*66G>A)
n.2988G>A
 dbSNP gnomAD v4
7g.143352031G=CA1748898455CLCN1c.*66G= (n.*66G=)
n.2988G=
7g.143352032_143352034delCA2778231045CLCN1c.*67_*69del (n.*67_*69del)
n.2989_2991del
7g.143352032C>ACA2685383579CLCN1c.*67C>A (n.*67C>A)
n.2989C>A
 gnomAD v4
7g.143352034G>CCA2685383581CLCN1c.*69G>C (n.*69G>C)
n.2991G>C
 gnomAD v4
7g.143352035G>ACA578626918CLCN1c.*70G>A (n.*70G>A)
n.2992G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143352035G=CA1748898457CLCN1c.*70G= (n.*70G=)
n.2992G=
7g.143352036G>ACA1748898459CLCN1c.*71G>A (n.*71G>A)
n.2993G>A
 dbSNP
7g.143352036G>CCA1748898458CLCN1c.*71G>C (n.*71G>C)
n.2993G>C
 dbSNP
7g.143352036G=CA1748898460CLCN1c.*71G= (n.*71G=)
n.2993G=
7g.143352037T>GCA2685383583CLCN1c.*72T>G (n.*72T>G)
n.2994T>G
 gnomAD v4
7g.143352038G>ACA578626919CLCN1c.*73G>A (n.*73G>A)
n.2995G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143352038G=CA1748898461CLCN1c.*73G= (n.*73G=)
n.2995G=
7g.143352039C>ACA2685383586CLCN1c.*74C>A (n.*74C>A)
n.2996C>A
 gnomAD v4
7g.143352039C=CA1748898462CLCN1c.*74C= (n.*74C=)
n.2996C=
7g.143352039C>TCA4537837CLCN1c.*74C>T (n.*74C>T)
n.2996C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143352040G>ACA4537839CLCN1c.*75G>A (n.*75G>A)
n.2997G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143352040G>CCA4537838CLCN1c.*75G>C (n.*75G>C)
n.2997G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143352040G=CA1748898463CLCN1c.*75G= (n.*75G=)
n.2997G=
7g.143352042C>ACA578626920CLCN1c.*77C>A (n.*77C>A)
n.2999C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143352042C=CA1748898464CLCN1c.*77C= (n.*77C=)
n.2999C=
7g.143352043C>TCA2685383607CLCN1c.*78C>T (n.*78C>T)
n.3000C>T
 gnomAD v4

Number of alleles fetched