Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143351862_143351867dupCA1748898366CLCN1c.2864_2869dup (p.Leu956_Val957insGluLeu)
n.2804_2809dup
c.2888_2893dup (p.Leu964_Val965insGluLeu)
c.1610_1615dup (p.Leu538_Val539insGluLeu)
c.2438_2443dup (p.Leu814_Val815insGluLeu)
c.2414_2419dup (p.Leu806_Val807insGluLeu)
n.2819_2824dup
 dbSNP
7g.143351866G>ACA168231762CLCN1c.2868G>A (p.Leu956=)
n.2808G>A
c.2892G>A (p.Leu964=)
c.1614G>A (p.Leu538=)
c.2442G>A (p.Leu814=)
c.2418G>A (p.Leu806=)
n.2823G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351866G>CCA458542487CLCN1c.2868G>C (p.Leu956=)
n.2808G>C
c.2892G>C (p.Leu964=)
c.1614G>C (p.Leu538=)
c.2442G>C (p.Leu814=)
c.2418G>C (p.Leu806=)
n.2823G>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351866G=CA1748898371CLCN1c.2868G= (p.Leu956=)
n.2808G=
c.2892G= (p.Leu964=)
c.1614G= (p.Leu538=)
c.2442G= (p.Leu814=)
c.2418G= (p.Leu806=)
n.2823G=
7g.143351866G>TCA458542489CLCN1c.2868G>T (p.Leu956=)
n.2808G>T
c.2892G>T (p.Leu964=)
c.1614G>T (p.Leu538=)
c.2442G>T (p.Leu814=)
c.2418G>T (p.Leu806=)
n.2823G>T
7g.143351867G>ACA4537807CLCN1c.2869G>A (p.Val957Met)
n.2809G>A
c.2893G>A (p.Val965Met)
c.1615G>A (p.Val539Met)
c.2443G>A (p.Val815Met)
c.2419G>A (p.Val807Met)
n.2824G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351867G>CCA369654021CLCN1c.2869G>C (p.Val957Leu)
n.2809G>C
c.2893G>C (p.Val965Leu)
c.1615G>C (p.Val539Leu)
c.2443G>C (p.Val815Leu)
c.2419G>C (p.Val807Leu)
n.2824G>C
 gnomAD v4
7g.143351867G=CA1748898372CLCN1c.2869G= (p.Val957=)
n.2809G=
c.2893G= (p.Val965=)
c.1615G= (p.Val539=)
c.2443G= (p.Val815=)
c.2419G= (p.Val807=)
n.2824G=
7g.143351867G>TCA369654015CLCN1c.2869G>T (p.Val957Leu)
n.2809G>T
c.2893G>T (p.Val965Leu)
c.1615G>T (p.Val539Leu)
c.2443G>T (p.Val815Leu)
c.2419G>T (p.Val807Leu)
n.2824G>T
 gnomAD v4
7g.143351868T>ACA369654023CLCN1c.2870T>A (p.Val957Glu)
n.2810T>A
c.2894T>A (p.Val965Glu)
c.1616T>A (p.Val539Glu)
c.2444T>A (p.Val815Glu)
c.2420T>A (p.Val807Glu)
n.2825T>A
7g.143351868T>CCA369654024CLCN1c.2870T>C (p.Val957Ala)
n.2810T>C
c.2894T>C (p.Val965Ala)
c.1616T>C (p.Val539Ala)
c.2444T>C (p.Val815Ala)
c.2420T>C (p.Val807Ala)
n.2825T>C
 dbSNP gnomAD v4
7g.143351868T>GCA369654026CLCN1c.2870T>G (p.Val957Gly)
n.2810T>G
c.2894T>G (p.Val965Gly)
c.1616T>G (p.Val539Gly)
c.2444T>G (p.Val815Gly)
c.2420T>G (p.Val807Gly)
n.2825T>G
7g.143351868T=CA1748898373CLCN1c.2870T= (p.Val957=)
n.2810T=
c.2894T= (p.Val965=)
c.1616T= (p.Val539=)
c.2444T= (p.Val815=)
c.2420T= (p.Val807=)
n.2825T=
7g.143351869G>ACA458542498CLCN1c.2871G>A (p.Val957=)
n.2811G>A
c.2895G>A (p.Val965=)
c.1617G>A (p.Val539=)
c.2445G>A (p.Val815=)
c.2421G>A (p.Val807=)
n.2826G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351869G>CCA458542499CLCN1c.2871G>C (p.Val957=)
n.2811G>C
c.2895G>C (p.Val965=)
c.1617G>C (p.Val539=)
c.2445G>C (p.Val815=)
c.2421G>C (p.Val807=)
n.2826G>C
7g.143351869G=CA1748898374CLCN1c.2871G= (p.Val957=)
n.2811G=
c.2895G= (p.Val965=)
c.1617G= (p.Val539=)
c.2445G= (p.Val815=)
c.2421G= (p.Val807=)
n.2826G=
7g.143351869G>TCA458542500CLCN1c.2871G>T (p.Val957=)
n.2811G>T
c.2895G>T (p.Val965=)
c.1617G>T (p.Val539=)
c.2445G>T (p.Val815=)
c.2421G>T (p.Val807=)
n.2826G>T
7g.143351870G>ACA369654028CLCN1c.2872G>A (p.Glu958Lys)
n.2812G>A
c.2896G>A (p.Glu966Lys)
c.1618G>A (p.Glu540Lys)
c.2446G>A (p.Glu816Lys)
c.2422G>A (p.Glu808Lys)
n.2827G>A
 gnomAD v4
7g.143351870G>CCA369654029CLCN1c.2872G>C (p.Glu958Gln)
n.2812G>C
c.2896G>C (p.Glu966Gln)
c.1618G>C (p.Glu540Gln)
c.2446G>C (p.Glu816Gln)
c.2422G>C (p.Glu808Gln)
n.2827G>C
7g.143351870G=CA1748898375CLCN1c.2872G= (p.Glu958=)
n.2812G=
c.2896G= (p.Glu966=)
c.1618G= (p.Glu540=)
c.2446G= (p.Glu816=)
c.2422G= (p.Glu808=)
n.2827G=
7g.143351870G>TCA4537808CLCN1c.2872G>T (p.Glu958Ter)
n.2812G>T
c.2896G>T (p.Glu966Ter)
c.1618G>T (p.Glu540Ter)
c.2446G>T (p.Glu816Ter)
c.2422G>T (p.Glu808Ter)
n.2827G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351871A>CCA369654032CLCN1c.2873A>C (p.Glu958Ala)
n.2813A>C
c.2897A>C (p.Glu966Ala)
c.1619A>C (p.Glu540Ala)
c.2447A>C (p.Glu816Ala)
c.2423A>C (p.Glu808Ala)
n.2828A>C
7g.143351871A>GCA369654034CLCN1c.2873A>G (p.Glu958Gly)
n.2813A>G
c.2897A>G (p.Glu966Gly)
c.1619A>G (p.Glu540Gly)
c.2447A>G (p.Glu816Gly)
c.2423A>G (p.Glu808Gly)
n.2828A>G
7g.143351871A>TCA369654035CLCN1c.2873A>T (p.Glu958Val)
n.2813A>T
c.2897A>T (p.Glu966Val)
c.1619A>T (p.Glu540Val)
c.2447A>T (p.Glu816Val)
c.2423A>T (p.Glu808Val)
n.2828A>T
7g.143351872G>ACA458542503CLCN1c.2874G>A (p.Glu958=)
n.2814G>A
c.2898G>A (p.Glu966=)
c.1620G>A (p.Glu540=)
c.2448G>A (p.Glu816=)
c.2424G>A (p.Glu808=)
n.2829G>A
 ClinVar dbSNP
7g.143351872G>CCA369654037CLCN1c.2874G>C (p.Glu958Asp)
n.2814G>C
c.2898G>C (p.Glu966Asp)
c.1620G>C (p.Glu540Asp)
c.2448G>C (p.Glu816Asp)
c.2424G>C (p.Glu808Asp)
n.2829G>C
7g.143351872G=CA1748898376CLCN1c.2874G= (p.Glu958=)
n.2814G=
c.2898G= (p.Glu966=)
c.1620G= (p.Glu540=)
c.2448G= (p.Glu816=)
c.2424G= (p.Glu808=)
n.2829G=
7g.143351872G>TCA369654039CLCN1c.2874G>T (p.Glu958Asp)
n.2814G>T
c.2898G>T (p.Glu966Asp)
c.1620G>T (p.Glu540Asp)
c.2448G>T (p.Glu816Asp)
c.2424G>T (p.Glu808Asp)
n.2829G>T
7g.143351873A=CA1748898377CLCN1c.2875A= (p.Ser959=)
n.2815A=
c.2899A= (p.Ser967=)
c.1621A= (p.Ser541=)
c.2449A= (p.Ser817=)
c.2425A= (p.Ser809=)
n.2830A=
7g.143351873A>CCA369654042CLCN1c.2875A>C (p.Ser959Arg)
n.2815A>C
c.2899A>C (p.Ser967Arg)
c.1621A>C (p.Ser541Arg)
c.2449A>C (p.Ser817Arg)
c.2425A>C (p.Ser809Arg)
n.2830A>C
7g.143351873A>GCA4537809CLCN1c.2875A>G (p.Ser959Gly)
n.2815A>G
c.2899A>G (p.Ser967Gly)
c.1621A>G (p.Ser541Gly)
c.2449A>G (p.Ser817Gly)
c.2425A>G (p.Ser809Gly)
n.2830A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351873A>TCA369654040CLCN1c.2875A>T (p.Ser959Cys)
n.2815A>T
c.2899A>T (p.Ser967Cys)
c.1621A>T (p.Ser541Cys)
c.2449A>T (p.Ser817Cys)
c.2425A>T (p.Ser809Cys)
n.2830A>T
7g.143351874G>ACA369654045CLCN1c.2876G>A (p.Ser959Asn)
n.2816G>A
c.2900G>A (p.Ser967Asn)
c.1622G>A (p.Ser541Asn)
c.2450G>A (p.Ser817Asn)
c.2426G>A (p.Ser809Asn)
n.2831G>A
 gnomAD v4
7g.143351874G>CCA369654046CLCN1c.2876G>C (p.Ser959Thr)
n.2816G>C
c.2900G>C (p.Ser967Thr)
c.1622G>C (p.Ser541Thr)
c.2450G>C (p.Ser817Thr)
c.2426G>C (p.Ser809Thr)
n.2831G>C
7g.143351874G>TCA369654048CLCN1c.2876G>T (p.Ser959Ile)
n.2816G>T
c.2900G>T (p.Ser967Ile)
c.1622G>T (p.Ser541Ile)
c.2450G>T (p.Ser817Ile)
c.2426G>T (p.Ser809Ile)
n.2831G>T
7g.143351875T>ACA369654050CLCN1c.2877T>A (p.Ser959Arg)
n.2817T>A
c.2901T>A (p.Ser967Arg)
c.1623T>A (p.Ser541Arg)
c.2451T>A (p.Ser817Arg)
c.2427T>A (p.Ser809Arg)
n.2832T>A
7g.143351875T>CCA458542509CLCN1c.2877T>C (p.Ser959=)
n.2817T>C
c.2901T>C (p.Ser967=)
c.1623T>C (p.Ser541=)
c.2451T>C (p.Ser817=)
c.2427T>C (p.Ser809=)
n.2832T>C
7g.143351875T>GCA369654052CLCN1c.2877T>G (p.Ser959Arg)
n.2817T>G
c.2901T>G (p.Ser967Arg)
c.1623T>G (p.Ser541Arg)
c.2451T>G (p.Ser817Arg)
c.2427T>G (p.Ser809Arg)
n.2832T>G
7g.143351876C>ACA369654057CLCN1c.2878C>A (p.Pro960Thr)
n.2818C>A
c.2902C>A (p.Pro968Thr)
c.1624C>A (p.Pro542Thr)
c.2452C>A (p.Pro818Thr)
c.2428C>A (p.Pro810Thr)
n.2833C>A
7g.143351876C>GCA369654056CLCN1c.2878C>G (p.Pro960Ala)
n.2818C>G
c.2902C>G (p.Pro968Ala)
c.1624C>G (p.Pro542Ala)
c.2452C>G (p.Pro818Ala)
c.2428C>G (p.Pro810Ala)
n.2833C>G
 gnomAD v4
7g.143351876C>TCA369654054CLCN1c.2878C>T (p.Pro960Ser)
n.2818C>T
c.2902C>T (p.Pro968Ser)
c.1624C>T (p.Pro542Ser)
c.2452C>T (p.Pro818Ser)
c.2428C>T (p.Pro810Ser)
n.2833C>T
7g.143351877C>ACA369654060CLCN1c.2879C>A (p.Pro960Gln)
n.2819C>A
c.2903C>A (p.Pro968Gln)
c.1625C>A (p.Pro542Gln)
c.2453C>A (p.Pro818Gln)
c.2429C>A (p.Pro810Gln)
n.2834C>A
7g.143351877C=CA1748898378CLCN1c.2879C= (p.Pro960=)
n.2819C=
c.2903C= (p.Pro968=)
c.1625C= (p.Pro542=)
c.2453C= (p.Pro818=)
c.2429C= (p.Pro810=)
n.2834C=
7g.143351877C>GCA369654061CLCN1c.2879C>G (p.Pro960Arg)
n.2819C>G
c.2903C>G (p.Pro968Arg)
c.1625C>G (p.Pro542Arg)
c.2453C>G (p.Pro818Arg)
c.2429C>G (p.Pro810Arg)
n.2834C>G
 dbSNP
7g.143351877C>TCA369654062CLCN1c.2879C>T (p.Pro960Leu)
n.2819C>T
c.2903C>T (p.Pro968Leu)
c.1625C>T (p.Pro542Leu)
c.2453C>T (p.Pro818Leu)
c.2429C>T (p.Pro810Leu)
n.2834C>T
7g.143351878A=CA1748898379CLCN1c.2880A= (p.Pro960=)
n.2820A=
c.2904A= (p.Pro968=)
c.1626A= (p.Pro542=)
c.2454A= (p.Pro818=)
c.2430A= (p.Pro810=)
n.2835A=
7g.143351878A>CCA458542513CLCN1c.2880A>C (p.Pro960=)
n.2820A>C
c.2904A>C (p.Pro968=)
c.1626A>C (p.Pro542=)
c.2454A>C (p.Pro818=)
c.2430A>C (p.Pro810=)
n.2835A>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351878A>GCA458542515CLCN1c.2880A>G (p.Pro960=)
n.2820A>G
c.2904A>G (p.Pro968=)
c.1626A>G (p.Pro542=)
c.2454A>G (p.Pro818=)
c.2430A>G (p.Pro810=)
n.2835A>G
 ClinVar
7g.143351878A>TCA458542516CLCN1c.2880A>T (p.Pro960=)
n.2820A>T
c.2904A>T (p.Pro968=)
c.1626A>T (p.Pro542=)
c.2454A>T (p.Pro818=)
c.2430A>T (p.Pro810=)
n.2835A>T
7g.143351879G>ACA369654064CLCN1c.2881G>A (p.Gly961Arg)
n.2821G>A
c.2905G>A (p.Gly969Arg)
c.1627G>A (p.Gly543Arg)
c.2455G>A (p.Gly819Arg)
c.2431G>A (p.Gly811Arg)
n.2836G>A
7g.143351879G>CCA369654065CLCN1c.2881G>C (p.Gly961Arg)
n.2821G>C
c.2905G>C (p.Gly969Arg)
c.1627G>C (p.Gly543Arg)
c.2455G>C (p.Gly819Arg)
c.2431G>C (p.Gly811Arg)
n.2836G>C
 dbSNP COSMIC
7g.143351879G=CA1748898380CLCN1c.2881G= (p.Gly961=)
n.2821G=
c.2905G= (p.Gly969=)
c.1627G= (p.Gly543=)
c.2455G= (p.Gly819=)
c.2431G= (p.Gly811=)
n.2836G=
7g.143351879G>TCA369654067CLCN1c.2881G>T (p.Gly961Trp)
n.2821G>T
c.2905G>T (p.Gly969Trp)
c.1627G>T (p.Gly543Trp)
c.2455G>T (p.Gly819Trp)
c.2431G>T (p.Gly811Trp)
n.2836G>T
 COSMIC
7g.143351880G>ACA369654072CLCN1c.2882G>A (p.Gly961Glu)
n.2822G>A
c.2906G>A (p.Gly969Glu)
c.1628G>A (p.Gly543Glu)
c.2456G>A (p.Gly819Glu)
c.2432G>A (p.Gly811Glu)
n.2837G>A
 ClinVar dbSNP
7g.143351880G>CCA369654069CLCN1c.2882G>C (p.Gly961Ala)
n.2822G>C
c.2906G>C (p.Gly969Ala)
c.1628G>C (p.Gly543Ala)
c.2456G>C (p.Gly819Ala)
c.2432G>C (p.Gly811Ala)
n.2837G>C
7g.143351880G=CA1748898381CLCN1c.2882G= (p.Gly961=)
n.2822G=
c.2906G= (p.Gly969=)
c.1628G= (p.Gly543=)
c.2456G= (p.Gly819=)
c.2432G= (p.Gly811=)
n.2837G=
7g.143351880G>TCA369654070CLCN1c.2882G>T (p.Gly961Val)
n.2822G>T
c.2906G>T (p.Gly969Val)
c.1628G>T (p.Gly543Val)
c.2456G>T (p.Gly819Val)
c.2432G>T (p.Gly811Val)
n.2837G>T
7g.143351881G>ACA458542521CLCN1c.2883G>A (p.Gly961=)
n.2823G>A
c.2907G>A (p.Gly969=)
c.1629G>A (p.Gly543=)
c.2457G>A (p.Gly819=)
c.2433G>A (p.Gly811=)
n.2838G>A
 dbSNP gnomAD v4
7g.143351881G>CCA16605144CLCN1c.2883G>C (p.Gly961=)
n.2823G>C
c.2907G>C (p.Gly969=)
c.1629G>C (p.Gly543=)
c.2457G>C (p.Gly819=)
c.2433G>C (p.Gly811=)
n.2838G>C
 ClinVar dbSNP
7g.143351881G=CA1748898382CLCN1c.2883G= (p.Gly961=)
n.2823G=
c.2907G= (p.Gly969=)
c.1629G= (p.Gly543=)
c.2457G= (p.Gly819=)
c.2433G= (p.Gly811=)
n.2838G=
7g.143351881G>TCA458542520CLCN1c.2883G>T (p.Gly961=)
n.2823G>T
c.2907G>T (p.Gly969=)
c.1629G>T (p.Gly543=)
c.2457G>T (p.Gly819=)
c.2433G>T (p.Gly811=)
n.2838G>T
7g.143351882C>ACA369654075CLCN1c.2884C>A (p.Leu962Met)
n.2824C>A
c.2908C>A (p.Leu970Met)
c.1630C>A (p.Leu544Met)
c.2458C>A (p.Leu820Met)
c.2434C>A (p.Leu812Met)
n.2839C>A
 gnomAD v4
7g.143351882C>GCA369654077CLCN1c.2884C>G (p.Leu962Val)
n.2824C>G
c.2908C>G (p.Leu970Val)
c.1630C>G (p.Leu544Val)
c.2458C>G (p.Leu820Val)
c.2434C>G (p.Leu812Val)
n.2839C>G
7g.143351882C>TCA458542527CLCN1c.2884C>T (p.Leu962=)
n.2824C>T
c.2908C>T (p.Leu970=)
c.1630C>T (p.Leu544=)
c.2458C>T (p.Leu820=)
c.2434C>T (p.Leu812=)
n.2839C>T
 gnomAD v4
7g.143351883T>ACA369654079CLCN1c.2885T>A (p.Leu962Gln)
n.2825T>A
c.2909T>A (p.Leu970Gln)
c.1631T>A (p.Leu544Gln)
c.2459T>A (p.Leu820Gln)
c.2435T>A (p.Leu812Gln)
n.2840T>A
7g.143351883T>CCA369654080CLCN1c.2885T>C (p.Leu962Pro)
n.2825T>C
c.2909T>C (p.Leu970Pro)
c.1631T>C (p.Leu544Pro)
c.2459T>C (p.Leu820Pro)
c.2435T>C (p.Leu812Pro)
n.2840T>C
7g.143351883T>GCA369654081CLCN1c.2885T>G (p.Leu962Arg)
n.2825T>G
c.2909T>G (p.Leu970Arg)
c.1631T>G (p.Leu544Arg)
c.2459T>G (p.Leu820Arg)
c.2435T>G (p.Leu812Arg)
n.2840T>G
7g.143351884G>ACA458542534CLCN1c.2886G>A (p.Leu962=)
n.2826G>A
c.2910G>A (p.Leu970=)
c.1632G>A (p.Leu544=)
c.2460G>A (p.Leu820=)
c.2436G>A (p.Leu812=)
n.2841G>A
 gnomAD v4 COSMIC
7g.143351884G>CCA458542535CLCN1c.2886G>C (p.Leu962=)
n.2826G>C
c.2910G>C (p.Leu970=)
c.1632G>C (p.Leu544=)
c.2460G>C (p.Leu820=)
c.2436G>C (p.Leu812=)
n.2841G>C
7g.143351884G>TCA458542537CLCN1c.2886G>T (p.Leu962=)
n.2826G>T
c.2910G>T (p.Leu970=)
c.1632G>T (p.Leu544=)
c.2460G>T (p.Leu820=)
c.2436G>T (p.Leu812=)
n.2841G>T
7g.143351885G>ACA369654083CLCN1c.2887G>A (p.Glu963Lys)
n.2827G>A
c.2911G>A (p.Glu971Lys)
c.1633G>A (p.Glu545Lys)
c.2461G>A (p.Glu821Lys)
c.2437G>A (p.Glu813Lys)
n.2842G>A
 dbSNP
7g.143351885G>CCA369654085CLCN1c.2887G>C (p.Glu963Gln)
n.2827G>C
c.2911G>C (p.Glu971Gln)
c.1633G>C (p.Glu545Gln)
c.2461G>C (p.Glu821Gln)
c.2437G>C (p.Glu813Gln)
n.2842G>C
7g.143351885G=CA1748898383CLCN1c.2887G= (p.Glu963=)
n.2827G=
c.2911G= (p.Glu971=)
c.1633G= (p.Glu545=)
c.2461G= (p.Glu821=)
c.2437G= (p.Glu813=)
n.2842G=
7g.143351885G>TCA369654086CLCN1c.2887G>T (p.Glu963Ter)
n.2827G>T
c.2911G>T (p.Glu971Ter)
c.1633G>T (p.Glu545Ter)
c.2461G>T (p.Glu821Ter)
c.2437G>T (p.Glu813Ter)
n.2842G>T
7g.143351886A>CCA369654088CLCN1c.2888A>C (p.Glu963Ala)
n.2828A>C
c.2912A>C (p.Glu971Ala)
c.1634A>C (p.Glu545Ala)
c.2462A>C (p.Glu821Ala)
c.2438A>C (p.Glu813Ala)
n.2843A>C
7g.143351886A>GCA369654089CLCN1c.2888A>G (p.Glu963Gly)
n.2828A>G
c.2912A>G (p.Glu971Gly)
c.1634A>G (p.Glu545Gly)
c.2462A>G (p.Glu821Gly)
c.2438A>G (p.Glu813Gly)
n.2843A>G
7g.143351886A>TCA369654091CLCN1c.2888A>T (p.Glu963Val)
n.2828A>T
c.2912A>T (p.Glu971Val)
c.1634A>T (p.Glu545Val)
c.2462A>T (p.Glu821Val)
c.2438A>T (p.Glu813Val)
n.2843A>T
7g.143351887A=CA1748898384CLCN1c.2889A= (p.Glu963=)
n.2829A=
c.2913A= (p.Glu971=)
c.1635A= (p.Glu545=)
c.2463A= (p.Glu821=)
c.2439A= (p.Glu813=)
n.2844A=
7g.143351887A>CCA369654093CLCN1c.2889A>C (p.Glu963Asp)
n.2829A>C
c.2913A>C (p.Glu971Asp)
c.1635A>C (p.Glu545Asp)
c.2463A>C (p.Glu821Asp)
c.2439A>C (p.Glu813Asp)
n.2844A>C
 dbSNP
7g.143351887A>GCA458542543CLCN1c.2889A>G (p.Glu963=)
n.2829A>G
c.2913A>G (p.Glu971=)
c.1635A>G (p.Glu545=)
c.2463A>G (p.Glu821=)
c.2439A>G (p.Glu813=)
n.2844A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351887A>TCA369654095CLCN1c.2889A>T (p.Glu963Asp)
n.2829A>T
c.2913A>T (p.Glu971Asp)
c.1635A>T (p.Glu545Asp)
c.2463A>T (p.Glu821Asp)
c.2439A>T (p.Glu813Asp)
n.2844A>T
7g.143351888G>ACA369654099CLCN1c.2890G>A (p.Glu964Lys)
n.2830G>A
c.2914G>A (p.Glu972Lys)
c.1636G>A (p.Glu546Lys)
c.2464G>A (p.Glu822Lys)
c.2440G>A (p.Glu814Lys)
n.2845G>A
 gnomAD v4
7g.143351888G>CCA4537810CLCN1c.2890G>C (p.Glu964Gln)
n.2830G>C
c.2914G>C (p.Glu972Gln)
c.1636G>C (p.Glu546Gln)
c.2464G>C (p.Glu822Gln)
c.2440G>C (p.Glu814Gln)
n.2845G>C
 dbSNP ExAC gnomAD v2 gnomAD v3
7g.143351888G=CA1748898385CLCN1c.2890G= (p.Glu964=)
n.2830G=
c.2914G= (p.Glu972=)
c.1636G= (p.Glu546=)
c.2464G= (p.Glu822=)
c.2440G= (p.Glu814=)
n.2845G=
7g.143351888G>TCA369654097CLCN1c.2890G>T (p.Glu964Ter)
n.2830G>T
c.2914G>T (p.Glu972Ter)
c.1636G>T (p.Glu546Ter)
c.2464G>T (p.Glu822Ter)
c.2440G>T (p.Glu814Ter)
n.2845G>T
7g.143351889A>CCA369654101CLCN1c.2891A>C (p.Glu964Ala)
n.2831A>C
c.2915A>C (p.Glu972Ala)
c.1637A>C (p.Glu546Ala)
c.2465A>C (p.Glu822Ala)
c.2441A>C (p.Glu814Ala)
n.2846A>C
7g.143351889A>GCA369654105CLCN1c.2891A>G (p.Glu964Gly)
n.2831A>G
c.2915A>G (p.Glu972Gly)
c.1637A>G (p.Glu546Gly)
c.2465A>G (p.Glu822Gly)
c.2441A>G (p.Glu814Gly)
n.2846A>G
7g.143351889A>TCA369654107CLCN1c.2891A>T (p.Glu964Val)
n.2831A>T
c.2915A>T (p.Glu972Val)
c.1637A>T (p.Glu546Val)
c.2465A>T (p.Glu822Val)
c.2441A>T (p.Glu814Val)
n.2846A>T
7g.143351890G>ACA458542547CLCN1c.2892G>A (p.Glu964=)
n.2832G>A
c.2916G>A (p.Glu972=)
c.1638G>A (p.Glu546=)
c.2466G>A (p.Glu822=)
c.2442G>A (p.Glu814=)
n.2847G>A
 ClinVar
7g.143351890G>CCA369654109CLCN1c.2892G>C (p.Glu964Asp)
n.2832G>C
c.2916G>C (p.Glu972Asp)
c.1638G>C (p.Glu546Asp)
c.2466G>C (p.Glu822Asp)
c.2442G>C (p.Glu814Asp)
n.2847G>C
7g.143351890G>TCA369654110CLCN1c.2892G>T (p.Glu964Asp)
n.2832G>T
c.2916G>T (p.Glu972Asp)
c.1638G>T (p.Glu546Asp)
c.2466G>T (p.Glu822Asp)
c.2442G>T (p.Glu814Asp)
n.2847G>T
7g.143351891G>ACA369654111CLCN1c.2893G>A (p.Glu965Lys)
n.2833G>A
c.2917G>A (p.Glu973Lys)
c.1639G>A (p.Glu547Lys)
c.2467G>A (p.Glu823Lys)
c.2443G>A (p.Glu815Lys)
n.2848G>A
7g.143351891G>CCA369654113CLCN1c.2893G>C (p.Glu965Gln)
n.2833G>C
c.2917G>C (p.Glu973Gln)
c.1639G>C (p.Glu547Gln)
c.2467G>C (p.Glu823Gln)
c.2443G>C (p.Glu815Gln)
n.2848G>C
7g.143351891G>TCA369654115CLCN1c.2893G>T (p.Glu965Ter)
n.2833G>T
c.2917G>T (p.Glu973Ter)
c.1639G>T (p.Glu547Ter)
c.2467G>T (p.Glu823Ter)
c.2443G>T (p.Glu815Ter)
n.2848G>T
7g.143351892A>CCA369654117CLCN1c.2894A>C (p.Glu965Ala)
n.2834A>C
c.2918A>C (p.Glu973Ala)
c.1640A>C (p.Glu547Ala)
c.2468A>C (p.Glu823Ala)
c.2444A>C (p.Glu815Ala)
n.2849A>C
7g.143351892A>GCA369654118CLCN1c.2894A>G (p.Glu965Gly)
n.2834A>G
c.2918A>G (p.Glu973Gly)
c.1640A>G (p.Glu547Gly)
c.2468A>G (p.Glu823Gly)
c.2444A>G (p.Glu815Gly)
n.2849A>G
7g.143351892A>TCA369654120CLCN1c.2894A>T (p.Glu965Val)
n.2834A>T
c.2918A>T (p.Glu973Val)
c.1640A>T (p.Glu547Val)
c.2468A>T (p.Glu823Val)
c.2444A>T (p.Glu815Val)
n.2849A>T
7g.143351893G>ACA458542552CLCN1c.2895G>A (p.Glu965=)
n.2835G>A
c.2919G>A (p.Glu973=)
c.1641G>A (p.Glu547=)
c.2469G>A (p.Glu823=)
c.2445G>A (p.Glu815=)
n.2850G>A
7g.143351893G>CCA369654122CLCN1c.2895G>C (p.Glu965Asp)
n.2835G>C
c.2919G>C (p.Glu973Asp)
c.1641G>C (p.Glu547Asp)
c.2469G>C (p.Glu823Asp)
c.2445G>C (p.Glu815Asp)
n.2850G>C
 gnomAD v4
7g.143351893G>TCA369654123CLCN1c.2895G>T (p.Glu965Asp)
n.2835G>T
c.2919G>T (p.Glu973Asp)
c.1641G>T (p.Glu547Asp)
c.2469G>T (p.Glu823Asp)
c.2445G>T (p.Glu815Asp)
n.2850G>T
7g.143351894C>ACA369654127CLCN1c.2896C>A (p.Leu966Met)
n.2836C>A
c.2920C>A (p.Leu974Met)
c.1642C>A (p.Leu548Met)
c.2470C>A (p.Leu824Met)
c.2446C>A (p.Leu816Met)
n.2851C>A
7g.143351894C=CA1748898386CLCN1c.2896C= (p.Leu966=)
n.2836C=
c.2920C= (p.Leu974=)
c.1642C= (p.Leu548=)
c.2470C= (p.Leu824=)
c.2446C= (p.Leu816=)
n.2851C=
7g.143351894C>GCA369654126CLCN1c.2896C>G (p.Leu966Val)
n.2836C>G
c.2920C>G (p.Leu974Val)
c.1642C>G (p.Leu548Val)
c.2470C>G (p.Leu824Val)
c.2446C>G (p.Leu816Val)
n.2851C>G
 ClinVar dbSNP
7g.143351894C>TCA4537811CLCN1c.2896C>T (p.Leu966=)
n.2836C>T
c.2920C>T (p.Leu974=)
c.1642C>T (p.Leu548=)
c.2470C>T (p.Leu824=)
c.2446C>T (p.Leu816=)
n.2851C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351895T>ACA369654129CLCN1c.2897T>A (p.Leu966Gln)
n.2837T>A
c.2921T>A (p.Leu974Gln)
c.1643T>A (p.Leu548Gln)
c.2471T>A (p.Leu824Gln)
c.2447T>A (p.Leu816Gln)
n.2852T>A
7g.143351895T>CCA369654130CLCN1c.2897T>C (p.Leu966Pro)
n.2837T>C
c.2921T>C (p.Leu974Pro)
c.1643T>C (p.Leu548Pro)
c.2471T>C (p.Leu824Pro)
c.2447T>C (p.Leu816Pro)
n.2852T>C
7g.143351895T>GCA369654132CLCN1c.2897T>G (p.Leu966Arg)
n.2837T>G
c.2921T>G (p.Leu974Arg)
c.1643T>G (p.Leu548Arg)
c.2471T>G (p.Leu824Arg)
c.2447T>G (p.Leu816Arg)
n.2852T>G
7g.143351896G>ACA458542560CLCN1c.2898G>A (p.Leu966=)
n.2838G>A
c.2922G>A (p.Leu974=)
c.1644G>A (p.Leu548=)
c.2472G>A (p.Leu824=)
c.2448G>A (p.Leu816=)
n.2853G>A
 ClinVar gnomAD v4
7g.143351896G>CCA458542562CLCN1c.2898G>C (p.Leu966=)
n.2838G>C
c.2922G>C (p.Leu974=)
c.1644G>C (p.Leu548=)
c.2472G>C (p.Leu824=)
c.2448G>C (p.Leu816=)
n.2853G>C
7g.143351896G>TCA458542563CLCN1c.2898G>T (p.Leu966=)
n.2838G>T
c.2922G>T (p.Leu974=)
c.1644G>T (p.Leu548=)
c.2472G>T (p.Leu824=)
c.2448G>T (p.Leu816=)
n.2853G>T
7g.143351897G>ACA369654134CLCN1c.2899G>A (p.Ala967Thr)
n.2839G>A
c.2923G>A (p.Ala975Thr)
c.1645G>A (p.Ala549Thr)
c.2473G>A (p.Ala825Thr)
c.2449G>A (p.Ala817Thr)
n.2854G>A
 gnomAD v4
7g.143351897G>CCA369654136CLCN1c.2899G>C (p.Ala967Pro)
n.2839G>C
c.2923G>C (p.Ala975Pro)
c.1645G>C (p.Ala549Pro)
c.2473G>C (p.Ala825Pro)
c.2449G>C (p.Ala817Pro)
n.2854G>C
7g.143351897G>TCA369654137CLCN1c.2899G>T (p.Ala967Ser)
n.2839G>T
c.2923G>T (p.Ala975Ser)
c.1645G>T (p.Ala549Ser)
c.2473G>T (p.Ala825Ser)
c.2449G>T (p.Ala817Ser)
n.2854G>T
7g.143351898C>ACA369654139CLCN1c.2900C>A (p.Ala967Asp)
n.2840C>A
c.2924C>A (p.Ala975Asp)
c.1646C>A (p.Ala549Asp)
c.2474C>A (p.Ala825Asp)
c.2450C>A (p.Ala817Asp)
n.2855C>A
7g.143351898C>GCA369654140CLCN1c.2900C>G (p.Ala967Gly)
n.2840C>G
c.2924C>G (p.Ala975Gly)
c.1646C>G (p.Ala549Gly)
c.2474C>G (p.Ala825Gly)
c.2450C>G (p.Ala817Gly)
n.2855C>G
7g.143351898C>TCA369654141CLCN1c.2900C>T (p.Ala967Val)
n.2840C>T
c.2924C>T (p.Ala975Val)
c.1646C>T (p.Ala549Val)
c.2474C>T (p.Ala825Val)
c.2450C>T (p.Ala817Val)
n.2855C>T
 gnomAD v4
7g.143351899C>ACA458542568CLCN1c.2901C>A (p.Ala967=)
n.2841C>A
c.2925C>A (p.Ala975=)
c.1647C>A (p.Ala549=)
c.2475C>A (p.Ala825=)
c.2451C>A (p.Ala817=)
n.2856C>A
 ClinVar dbSNP
7g.143351899C=CA1748898387CLCN1c.2901C= (p.Ala967=)
n.2841C=
c.2925C= (p.Ala975=)
c.1647C= (p.Ala549=)
c.2475C= (p.Ala825=)
c.2451C= (p.Ala817=)
n.2856C=
7g.143351899C>GCA458542569CLCN1c.2901C>G (p.Ala967=)
n.2841C>G
c.2925C>G (p.Ala975=)
c.1647C>G (p.Ala549=)
c.2475C>G (p.Ala825=)
c.2451C>G (p.Ala817=)
n.2856C>G
7g.143351899C>TCA4537812CLCN1c.2901C>T (p.Ala967=)
n.2841C>T
c.2925C>T (p.Ala975=)
c.1647C>T (p.Ala549=)
c.2475C>T (p.Ala825=)
c.2451C>T (p.Ala817=)
n.2856C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351900G>ACA4537813CLCN1c.2902G>A (p.Asp968Asn)
n.2842G>A
c.2926G>A (p.Asp976Asn)
c.1648G>A (p.Asp550Asn)
c.2476G>A (p.Asp826Asn)
c.2452G>A (p.Asp818Asn)
n.2857G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351900G>CCA369654144CLCN1c.2902G>C (p.Asp968His)
n.2842G>C
c.2926G>C (p.Asp976His)
c.1648G>C (p.Asp550His)
c.2476G>C (p.Asp826His)
c.2452G>C (p.Asp818His)
n.2857G>C
 ClinVar dbSNP gnomAD v4
7g.143351900G=CA1748898388CLCN1c.2902G= (p.Asp968=)
n.2842G=
c.2926G= (p.Asp976=)
c.1648G= (p.Asp550=)
c.2476G= (p.Asp826=)
c.2452G= (p.Asp818=)
n.2857G=
7g.143351900G>TCA369654145CLCN1c.2902G>T (p.Asp968Tyr)
n.2842G>T
c.2926G>T (p.Asp976Tyr)
c.1648G>T (p.Asp550Tyr)
c.2476G>T (p.Asp826Tyr)
c.2452G>T (p.Asp818Tyr)
n.2857G>T
7g.143351901A>CCA369654148CLCN1c.2903A>C (p.Asp968Ala)
n.2843A>C
c.2927A>C (p.Asp976Ala)
c.1649A>C (p.Asp550Ala)
c.2477A>C (p.Asp826Ala)
c.2453A>C (p.Asp818Ala)
n.2858A>C
7g.143351901A>GCA369654150CLCN1c.2903A>G (p.Asp968Gly)
n.2843A>G
c.2927A>G (p.Asp976Gly)
c.1649A>G (p.Asp550Gly)
c.2477A>G (p.Asp826Gly)
c.2453A>G (p.Asp818Gly)
n.2858A>G
7g.143351901A>TCA369654147CLCN1c.2903A>T (p.Asp968Val)
n.2843A>T
c.2927A>T (p.Asp976Val)
c.1649A>T (p.Asp550Val)
c.2477A>T (p.Asp826Val)
c.2453A>T (p.Asp818Val)
n.2858A>T
7g.143351902C>ACA369654152CLCN1c.2904C>A (p.Asp968Glu)
n.2844C>A
c.2928C>A (p.Asp976Glu)
c.1650C>A (p.Asp550Glu)
c.2478C>A (p.Asp826Glu)
c.2454C>A (p.Asp818Glu)
n.2859C>A
7g.143351902C=CA1748898389CLCN1c.2904C= (p.Asp968=)
n.2844C=
c.2928C= (p.Asp976=)
c.1650C= (p.Asp550=)
c.2478C= (p.Asp826=)
c.2454C= (p.Asp818=)
n.2859C=
7g.143351902C>GCA369654154CLCN1c.2904C>G (p.Asp968Glu)
n.2844C>G
c.2928C>G (p.Asp976Glu)
c.1650C>G (p.Asp550Glu)
c.2478C>G (p.Asp826Glu)
c.2454C>G (p.Asp818Glu)
n.2859C>G
7g.143351902C>TCA4537814CLCN1c.2904C>T (p.Asp968=)
n.2844C>T
c.2928C>T (p.Asp976=)
c.1650C>T (p.Asp550=)
c.2478C>T (p.Asp826=)
c.2454C>T (p.Asp818=)
n.2859C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351903A=CA1748898390CLCN1c.2905A= (p.Ile969=)
n.2845A=
c.2929A= (p.Ile977=)
c.1651A= (p.Ile551=)
c.2479A= (p.Ile827=)
c.2455A= (p.Ile819=)
n.2860A=
7g.143351903A>CCA369654156CLCN1c.2905A>C (p.Ile969Leu)
n.2845A>C
c.2929A>C (p.Ile977Leu)
c.1651A>C (p.Ile551Leu)
c.2479A>C (p.Ile827Leu)
c.2455A>C (p.Ile819Leu)
n.2860A>C
7g.143351903A>GCA369654158CLCN1c.2905A>G (p.Ile969Val)
n.2845A>G
c.2929A>G (p.Ile977Val)
c.1651A>G (p.Ile551Val)
c.2479A>G (p.Ile827Val)
c.2455A>G (p.Ile819Val)
n.2860A>G
 dbSNP gnomAD v4
7g.143351903A>TCA369654159CLCN1c.2905A>T (p.Ile969Phe)
n.2845A>T
c.2929A>T (p.Ile977Phe)
c.1651A>T (p.Ile551Phe)
c.2479A>T (p.Ile827Phe)
c.2455A>T (p.Ile819Phe)
n.2860A>T
7g.143351904T>ACA369654161CLCN1c.2906T>A (p.Ile969Asn)
n.2846T>A
c.2930T>A (p.Ile977Asn)
c.1652T>A (p.Ile551Asn)
c.2480T>A (p.Ile827Asn)
c.2456T>A (p.Ile819Asn)
n.2861T>A
7g.143351904T>CCA369654163CLCN1c.2906T>C (p.Ile969Thr)
n.2846T>C
c.2930T>C (p.Ile977Thr)
c.1652T>C (p.Ile551Thr)
c.2480T>C (p.Ile827Thr)
c.2456T>C (p.Ile819Thr)
n.2861T>C
7g.143351904T>GCA369654164CLCN1c.2906T>G (p.Ile969Ser)
n.2846T>G
c.2930T>G (p.Ile977Ser)
c.1652T>G (p.Ile551Ser)
c.2480T>G (p.Ile827Ser)
c.2456T>G (p.Ile819Ser)
n.2861T>G
7g.143351905C>ACA458542579CLCN1c.2907C>A (p.Ile969=)
n.2847C>A
c.2931C>A (p.Ile977=)
c.1653C>A (p.Ile551=)
c.2481C>A (p.Ile827=)
c.2457C>A (p.Ile819=)
n.2862C>A
7g.143351905C>GCA369654166CLCN1c.2907C>G (p.Ile969Met)
n.2847C>G
c.2931C>G (p.Ile977Met)
c.1653C>G (p.Ile551Met)
c.2481C>G (p.Ile827Met)
c.2457C>G (p.Ile819Met)
n.2862C>G
7g.143351905C>TCA458542583CLCN1c.2907C>T (p.Ile969=)
n.2847C>T
c.2931C>T (p.Ile977=)
c.1653C>T (p.Ile551=)
c.2481C>T (p.Ile827=)
c.2457C>T (p.Ile819=)
n.2862C>T
7g.143351906T>ACA369654170CLCN1c.2908T>A (p.Leu970Met)
n.2848T>A
c.2932T>A (p.Leu978Met)
c.1654T>A (p.Leu552Met)
c.2482T>A (p.Leu828Met)
c.2458T>A (p.Leu820Met)
n.2863T>A
7g.143351906T>CCA458542584CLCN1c.2908T>C (p.Leu970=)
n.2848T>C
c.2932T>C (p.Leu978=)
c.1654T>C (p.Leu552=)
c.2482T>C (p.Leu828=)
c.2458T>C (p.Leu820=)
n.2863T>C
7g.143351906T>GCA369654171CLCN1c.2908T>G (p.Leu970Val)
n.2848T>G
c.2932T>G (p.Leu978Val)
c.1654T>G (p.Leu552Val)
c.2482T>G (p.Leu828Val)
c.2458T>G (p.Leu820Val)
n.2863T>G
7g.143351907T>ACA369654173CLCN1c.2909T>A (p.Leu970Ter)
n.2849T>A
c.2933T>A (p.Leu978Ter)
c.1655T>A (p.Leu552Ter)
c.2483T>A (p.Leu828Ter)
c.2459T>A (p.Leu820Ter)
n.2864T>A
 ClinVar gnomAD v4
7g.143351907T>CCA369654175CLCN1c.2909T>C (p.Leu970Ser)
n.2849T>C
c.2933T>C (p.Leu978Ser)
c.1655T>C (p.Leu552Ser)
c.2483T>C (p.Leu828Ser)
c.2459T>C (p.Leu820Ser)
n.2864T>C
7g.143351907T>GCA4537815CLCN1c.2909T>G (p.Leu970Trp)
n.2849T>G
c.2933T>G (p.Leu978Trp)
c.1655T>G (p.Leu552Trp)
c.2483T>G (p.Leu828Trp)
c.2459T>G (p.Leu820Trp)
n.2864T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351907T=CA1748898391CLCN1c.2909T= (p.Leu970=)
n.2849T=
c.2933T= (p.Leu978=)
c.1655T= (p.Leu552=)
c.2483T= (p.Leu828=)
c.2459T= (p.Leu820=)
n.2864T=
7g.143351908G>ACA458542589CLCN1c.2910G>A (p.Leu970=)
n.2850G>A
c.2934G>A (p.Leu978=)
c.1656G>A (p.Leu552=)
c.2484G>A (p.Leu828=)
c.2460G>A (p.Leu820=)
n.2865G>A
 gnomAD v4
7g.143351908G>CCA369654179CLCN1c.2910G>C (p.Leu970Phe)
n.2850G>C
c.2934G>C (p.Leu978Phe)
c.1656G>C (p.Leu552Phe)
c.2484G>C (p.Leu828Phe)
c.2460G>C (p.Leu820Phe)
n.2865G>C
7g.143351908G>TCA369654177CLCN1c.2910G>T (p.Leu970Phe)
n.2850G>T
c.2934G>T (p.Leu978Phe)
c.1656G>T (p.Leu552Phe)
c.2484G>T (p.Leu828Phe)
c.2460G>T (p.Leu820Phe)
n.2865G>T
7g.143351909C>ACA369654181CLCN1c.2911C>A (p.Gln971Lys)
n.2851C>A
c.2935C>A (p.Gln979Lys)
c.1657C>A (p.Gln553Lys)
c.2485C>A (p.Gln829Lys)
c.2461C>A (p.Gln821Lys)
n.2866C>A
7g.143351909C>GCA369654182CLCN1c.2911C>G (p.Gln971Glu)
n.2851C>G
c.2935C>G (p.Gln979Glu)
c.1657C>G (p.Gln553Glu)
c.2485C>G (p.Gln829Glu)
c.2461C>G (p.Gln821Glu)
n.2866C>G
7g.143351909C>TCA369654184CLCN1c.2911C>T (p.Gln971Ter)
n.2851C>T
c.2935C>T (p.Gln979Ter)
c.1657C>T (p.Gln553Ter)
c.2485C>T (p.Gln829Ter)
c.2461C>T (p.Gln821Ter)
n.2866C>T
7g.143351910A=CA1748898392CLCN1c.2912A= (p.Gln971=)
n.2852A=
c.2936A= (p.Gln979=)
c.1658A= (p.Gln553=)
c.2486A= (p.Gln829=)
c.2462A= (p.Gln821=)
n.2867A=
7g.143351910A>CCA369654186CLCN1c.2912A>C (p.Gln971Pro)
n.2852A>C
c.2936A>C (p.Gln979Pro)
c.1658A>C (p.Gln553Pro)
c.2486A>C (p.Gln829Pro)
c.2462A>C (p.Gln821Pro)
n.2867A>C
7g.143351910A>GCA369654187CLCN1c.2912A>G (p.Gln971Arg)
n.2852A>G
c.2936A>G (p.Gln979Arg)
c.1658A>G (p.Gln553Arg)
c.2486A>G (p.Gln829Arg)
c.2462A>G (p.Gln821Arg)
n.2867A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351910A>TCA369654189CLCN1c.2912A>T (p.Gln971Leu)
n.2852A>T
c.2936A>T (p.Gln979Leu)
c.1658A>T (p.Gln553Leu)
c.2486A>T (p.Gln829Leu)
c.2462A>T (p.Gln821Leu)
n.2867A>T
7g.143351911G>ACA458542597CLCN1c.2913G>A (p.Gln971=)
n.2853G>A
c.2937G>A (p.Gln979=)
c.1659G>A (p.Gln553=)
c.2487G>A (p.Gln829=)
c.2463G>A (p.Gln821=)
n.2868G>A
7g.143351911G>CCA369654190CLCN1c.2913G>C (p.Gln971His)
n.2853G>C
c.2937G>C (p.Gln979His)
c.1659G>C (p.Gln553His)
c.2487G>C (p.Gln829His)
c.2463G>C (p.Gln821His)
n.2868G>C
7g.143351911G>TCA369654192CLCN1c.2913G>T (p.Gln971His)
n.2853G>T
c.2937G>T (p.Gln979His)
c.1659G>T (p.Gln553His)
c.2487G>T (p.Gln829His)
c.2463G>T (p.Gln821His)
n.2868G>T
7g.143351912G>ACA369654193CLCN1c.2914G>A (p.Gly972Ser)
n.2854G>A
c.2938G>A (p.Gly980Ser)
c.1660G>A (p.Gly554Ser)
c.2488G>A (p.Gly830Ser)
c.2464G>A (p.Gly822Ser)
n.2869G>A
 gnomAD v4
7g.143351912G>CCA369654195CLCN1c.2914G>C (p.Gly972Arg)
n.2854G>C
c.2938G>C (p.Gly980Arg)
c.1660G>C (p.Gly554Arg)
c.2488G>C (p.Gly830Arg)
c.2464G>C (p.Gly822Arg)
n.2869G>C
7g.143351912G>TCA369654197CLCN1c.2914G>T (p.Gly972Cys)
n.2854G>T
c.2938G>T (p.Gly980Cys)
c.1660G>T (p.Gly554Cys)
c.2488G>T (p.Gly830Cys)
c.2464G>T (p.Gly822Cys)
n.2869G>T
7g.143351913G>ACA369654201CLCN1c.2915G>A (p.Gly972Asp)
n.2855G>A
c.2939G>A (p.Gly980Asp)
c.1661G>A (p.Gly554Asp)
c.2489G>A (p.Gly830Asp)
c.2465G>A (p.Gly822Asp)
n.2870G>A
 gnomAD v4
7g.143351913G>CCA369654200CLCN1c.2915G>C (p.Gly972Ala)
n.2855G>C
c.2939G>C (p.Gly980Ala)
c.1661G>C (p.Gly554Ala)
c.2489G>C (p.Gly830Ala)
c.2465G>C (p.Gly822Ala)
n.2870G>C
7g.143351913G>TCA369654199CLCN1c.2915G>T (p.Gly972Val)
n.2855G>T
c.2939G>T (p.Gly980Val)
c.1661G>T (p.Gly554Val)
c.2489G>T (p.Gly830Val)
c.2465G>T (p.Gly822Val)
n.2870G>T
7g.143351913_143351914delinsGCCA1748898393CLCN1c.2915_2916delinsGC (p.Gly972=)
n.2855_2856delinsGC
c.2939_2940delinsGC (p.Gly980=)
c.1661_1662delinsGC (p.Gly554=)
c.2489_2490delinsGC (p.Gly830=)
c.2465_2466delinsGC (p.Gly822=)
n.2870_2871delinsGC
7g.143351914C>ACA458542607CLCN1c.2916C>A (p.Gly972=)
n.2856C>A
c.2940C>A (p.Gly980=)
c.1662C>A (p.Gly554=)
c.2490C>A (p.Gly830=)
c.2466C>A (p.Gly822=)
n.2871C>A
7g.143351914C>GCA458542608CLCN1c.2916C>G (p.Gly972=)
n.2856C>G
c.2940C>G (p.Gly980=)
c.1662C>G (p.Gly554=)
c.2490C>G (p.Gly830=)
c.2466C>G (p.Gly822=)
n.2871C>G
7g.143351914C>TCA458542609CLCN1c.2916C>T (p.Gly972=)
n.2856C>T
c.2940C>T (p.Gly980=)
c.1662C>T (p.Gly554=)
c.2490C>T (p.Gly830=)
c.2466C>T (p.Gly822=)
n.2871C>T
7g.143351917delCA578626909CLCN1c.2919del (p.Ser974AlafsTer13)
n.2859del
c.2943del (p.Ser982AlafsTer13)
c.1665del (p.Ser556AlafsTer13)
c.2493del (p.Ser832AlafsTer13)
c.2469del (p.Ser824AlafsTer13)
n.2874del
 dbSNP gnomAD v2 gnomAD v4
7g.143351915C>ACA369654203CLCN1c.2917C>A (p.Pro973Thr)
n.2857C>A
c.2941C>A (p.Pro981Thr)
c.1663C>A (p.Pro555Thr)
c.2491C>A (p.Pro831Thr)
c.2467C>A (p.Pro823Thr)
n.2872C>A
7g.143351915C>GCA369654204CLCN1c.2917C>G (p.Pro973Ala)
n.2857C>G
c.2941C>G (p.Pro981Ala)
c.1663C>G (p.Pro555Ala)
c.2491C>G (p.Pro831Ala)
c.2467C>G (p.Pro823Ala)
n.2872C>G
7g.143351915C>TCA369654205CLCN1c.2917C>T (p.Pro973Ser)
n.2857C>T
c.2941C>T (p.Pro981Ser)
c.1663C>T (p.Pro555Ser)
c.2491C>T (p.Pro831Ser)
c.2467C>T (p.Pro823Ser)
n.2872C>T
7g.143351916C>ACA369654207CLCN1c.2918C>A (p.Pro973His)
n.2858C>A
c.2942C>A (p.Pro981His)
c.1664C>A (p.Pro555His)
c.2492C>A (p.Pro831His)
c.2468C>A (p.Pro823His)
n.2873C>A
7g.143351916C>GCA369654208CLCN1c.2918C>G (p.Pro973Arg)
n.2858C>G
c.2942C>G (p.Pro981Arg)
c.1664C>G (p.Pro555Arg)
c.2492C>G (p.Pro831Arg)
c.2468C>G (p.Pro823Arg)
n.2873C>G
7g.143351916C>TCA369654210CLCN1c.2918C>T (p.Pro973Leu)
n.2858C>T
c.2942C>T (p.Pro981Leu)
c.1664C>T (p.Pro555Leu)
c.2492C>T (p.Pro831Leu)
c.2468C>T (p.Pro823Leu)
n.2873C>T
7g.143351917C>ACA458542613CLCN1c.2919C>A (p.Pro973=)
n.2859C>A
c.2943C>A (p.Pro981=)
c.1665C>A (p.Pro555=)
c.2493C>A (p.Pro831=)
c.2469C>A (p.Pro823=)
n.2874C>A
 dbSNP gnomAD v3 gnomAD v4
7g.143351917C=CA1748898394CLCN1c.2919C= (p.Pro973=)
n.2859C=
c.2943C= (p.Pro981=)
c.1665C= (p.Pro555=)
c.2493C= (p.Pro831=)
c.2469C= (p.Pro823=)
n.2874C=
7g.143351917C>GCA458542611CLCN1c.2919C>G (p.Pro973=)
n.2859C>G
c.2943C>G (p.Pro981=)
c.1665C>G (p.Pro555=)
c.2493C>G (p.Pro831=)
c.2469C>G (p.Pro823=)
n.2874C>G
7g.143351917C>TCA458542612CLCN1c.2919C>T (p.Pro973=)
n.2859C>T
c.2943C>T (p.Pro981=)
c.1665C>T (p.Pro555=)
c.2493C>T (p.Pro831=)
c.2469C>T (p.Pro823=)
n.2874C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143351918A>CCA369654211CLCN1c.2920A>C (p.Ser974Arg)
n.2860A>C
c.2944A>C (p.Ser982Arg)
c.1666A>C (p.Ser556Arg)
c.2494A>C (p.Ser832Arg)
c.2470A>C (p.Ser824Arg)
n.2875A>C
7g.143351918A>GCA369654212CLCN1c.2920A>G (p.Ser974Gly)
n.2860A>G
c.2944A>G (p.Ser982Gly)
c.1666A>G (p.Ser556Gly)
c.2494A>G (p.Ser832Gly)
c.2470A>G (p.Ser824Gly)
n.2875A>G
7g.143351918A>TCA369654214CLCN1c.2920A>T (p.Ser974Cys)
n.2860A>T
c.2944A>T (p.Ser982Cys)
c.1666A>T (p.Ser556Cys)
c.2494A>T (p.Ser832Cys)
c.2470A>T (p.Ser824Cys)
n.2875A>T
7g.143351919G>ACA369654216CLCN1c.2921G>A (p.Ser974Asn)
n.2861G>A
c.2945G>A (p.Ser982Asn)
c.1667G>A (p.Ser556Asn)
c.2495G>A (p.Ser832Asn)
c.2471G>A (p.Ser824Asn)
n.2876G>A
7g.143351919G>CCA369654218CLCN1c.2921G>C (p.Ser974Thr)
n.2861G>C
c.2945G>C (p.Ser982Thr)
c.1667G>C (p.Ser556Thr)
c.2495G>C (p.Ser832Thr)
c.2471G>C (p.Ser824Thr)
n.2876G>C
7g.143351919G>TCA369654219CLCN1c.2921G>T (p.Ser974Ile)
n.2861G>T
c.2945G>T (p.Ser982Ile)
c.1667G>T (p.Ser556Ile)
c.2495G>T (p.Ser832Ile)
c.2471G>T (p.Ser824Ile)
n.2876G>T
7g.143351920C>ACA369654221CLCN1c.2922C>A (p.Ser974Arg)
n.2862C>A
c.2946C>A (p.Ser982Arg)
c.1668C>A (p.Ser556Arg)
c.2496C>A (p.Ser832Arg)
c.2472C>A (p.Ser824Arg)
n.2877C>A
7g.143351920C=CA1748898395CLCN1c.2922C= (p.Ser974=)
n.2862C=
c.2946C= (p.Ser982=)
c.1668C= (p.Ser556=)
c.2496C= (p.Ser832=)
c.2472C= (p.Ser824=)
n.2877C=
7g.143351920C>GCA369654223CLCN1c.2922C>G (p.Ser974Arg)
n.2862C>G
c.2946C>G (p.Ser982Arg)
c.1668C>G (p.Ser556Arg)
c.2496C>G (p.Ser832Arg)
c.2472C>G (p.Ser824Arg)
n.2877C>G
 dbSNP gnomAD v3 gnomAD v4
7g.143351920C>TCA458542616CLCN1c.2922C>T (p.Ser974=)
n.2862C>T
c.2946C>T (p.Ser982=)
c.1668C>T (p.Ser556=)
c.2496C>T (p.Ser832=)
c.2472C>T (p.Ser824=)
n.2877C>T
7g.143351921C>ACA369654224CLCN1c.2923C>A (p.Leu975Met)
n.2863C>A
c.2947C>A (p.Leu983Met)
c.1669C>A (p.Leu557Met)
c.2497C>A (p.Leu833Met)
c.2473C>A (p.Leu825Met)
n.2878C>A
7g.143351921C>GCA369654226CLCN1c.2923C>G (p.Leu975Val)
n.2863C>G
c.2947C>G (p.Leu983Val)
c.1669C>G (p.Leu557Val)
c.2497C>G (p.Leu833Val)
c.2473C>G (p.Leu825Val)
n.2878C>G
7g.143351921C>TCA458542619CLCN1c.2923C>T (p.Leu975=)
n.2863C>T
c.2947C>T (p.Leu983=)
c.1669C>T (p.Leu557=)
c.2497C>T (p.Leu833=)
c.2473C>T (p.Leu825=)
n.2878C>T
7g.143351922T>ACA369654227CLCN1c.2924T>A (p.Leu975Gln)
n.2864T>A
c.2948T>A (p.Leu983Gln)
c.1670T>A (p.Leu557Gln)
c.2498T>A (p.Leu833Gln)
c.2474T>A (p.Leu825Gln)
n.2879T>A
7g.143351922T>CCA369654229CLCN1c.2924T>C (p.Leu975Pro)
n.2864T>C
c.2948T>C (p.Leu983Pro)
c.1670T>C (p.Leu557Pro)
c.2498T>C (p.Leu833Pro)
c.2474T>C (p.Leu825Pro)
n.2879T>C
7g.143351922T>GCA369654231CLCN1c.2924T>G (p.Leu975Arg)
n.2864T>G
c.2948T>G (p.Leu983Arg)
c.1670T>G (p.Leu557Arg)
c.2498T>G (p.Leu833Arg)
c.2474T>G (p.Leu825Arg)
n.2879T>G
7g.143351923G>ACA458542621CLCN1c.2925G>A (p.Leu975=)
n.2865G>A
c.2949G>A (p.Leu983=)
c.1671G>A (p.Leu557=)
c.2499G>A (p.Leu833=)
c.2475G>A (p.Leu825=)
n.2880G>A
7g.143351923G>CCA458542622CLCN1c.2925G>C (p.Leu975=)
n.2865G>C
c.2949G>C (p.Leu983=)
c.1671G>C (p.Leu557=)
c.2499G>C (p.Leu833=)
c.2475G>C (p.Leu825=)
n.2880G>C
7g.143351923G>TCA458542623CLCN1c.2925G>T (p.Leu975=)
n.2865G>T
c.2949G>T (p.Leu983=)
c.1671G>T (p.Leu557=)
c.2499G>T (p.Leu833=)
c.2475G>T (p.Leu825=)
n.2880G>T
7g.143351924C>ACA458542625CLCN1c.2926C>A (p.Arg976=)
n.2866C>A
c.2950C>A (p.Arg984=)
c.1672C>A (p.Arg558=)
c.2500C>A (p.Arg834=)
c.2476C>A (p.Arg826=)
n.2881C>A
7g.143351924C=CA1748898396CLCN1c.2926C= (p.Arg976=)
n.2866C=
c.2950C= (p.Arg984=)
c.1672C= (p.Arg558=)
c.2500C= (p.Arg834=)
c.2476C= (p.Arg826=)
n.2881C=
7g.143351924C>GCA369654233CLCN1c.2926C>G (p.Arg976Gly)
n.2866C>G
c.2950C>G (p.Arg984Gly)
c.1672C>G (p.Arg558Gly)
c.2500C>G (p.Arg834Gly)
c.2476C>G (p.Arg826Gly)
n.2881C>G
7g.143351924C>TCA248367CLCN1c.2926C>T (p.Arg976Ter)
n.2866C>T
c.2950C>T (p.Arg984Ter)
c.1672C>T (p.Arg558Ter)
c.2500C>T (p.Arg834Ter)
c.2476C>T (p.Arg826Ter)
n.2881C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351925G>ACA369654234CLCN1c.2927G>A (p.Arg976Gln)
n.2867G>A
c.2951G>A (p.Arg984Gln)
c.1673G>A (p.Arg558Gln)
c.2501G>A (p.Arg834Gln)
c.2477G>A (p.Arg826Gln)
n.2882G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143351925G>CCA369654235CLCN1c.2927G>C (p.Arg976Pro)
n.2867G>C
c.2951G>C (p.Arg984Pro)
c.1673G>C (p.Arg558Pro)
c.2501G>C (p.Arg834Pro)
c.2477G>C (p.Arg826Pro)
n.2882G>C
 dbSNP
7g.143351925G=CA1748898397CLCN1c.2927G= (p.Arg976=)
n.2867G=
c.2951G= (p.Arg984=)
c.1673G= (p.Arg558=)
c.2501G= (p.Arg834=)
c.2477G= (p.Arg826=)
n.2882G=
7g.143351925G>TCA369654237CLCN1c.2927G>T (p.Arg976Leu)
n.2867G>T
c.2951G>T (p.Arg984Leu)
c.1673G>T (p.Arg558Leu)
c.2501G>T (p.Arg834Leu)
c.2477G>T (p.Arg826Leu)
n.2882G>T
 gnomAD v4
7g.143351926A=CA1748898398CLCN1c.2928A= (p.Arg976=)
n.2868A=
c.2952A= (p.Arg984=)
c.1674A= (p.Arg558=)
c.2502A= (p.Arg834=)
c.2478A= (p.Arg826=)
n.2883A=
7g.143351926A>CCA458542633CLCN1c.2928A>C (p.Arg976=)
n.2868A>C
c.2952A>C (p.Arg984=)
c.1674A>C (p.Arg558=)
c.2502A>C (p.Arg834=)
c.2478A>C (p.Arg826=)
n.2883A>C
7g.143351926A>GCA458542635CLCN1c.2928A>G (p.Arg976=)
n.2868A>G
c.2952A>G (p.Arg984=)
c.1674A>G (p.Arg558=)
c.2502A>G (p.Arg834=)
c.2478A>G (p.Arg826=)
n.2883A>G
 gnomAD v4
7g.143351926A>TCA458542637CLCN1c.2928A>T (p.Arg976=)
n.2868A>T
c.2952A>T (p.Arg984=)
c.1674A>T (p.Arg558=)
c.2502A>T (p.Arg834=)
c.2478A>T (p.Arg826=)
n.2883A>T
 dbSNP gnomAD v3 gnomAD v4
7g.143351927T>ACA369654239CLCN1c.2929T>A (p.Ser977Thr)
n.2869T>A
c.2953T>A (p.Ser985Thr)
c.1675T>A (p.Ser559Thr)
c.2503T>A (p.Ser835Thr)
c.2479T>A (p.Ser827Thr)
n.2884T>A
 gnomAD v4
7g.143351927T>CCA369654240CLCN1c.2929T>C (p.Ser977Pro)
n.2869T>C
c.2953T>C (p.Ser985Pro)
c.1675T>C (p.Ser559Pro)
c.2503T>C (p.Ser835Pro)
c.2479T>C (p.Ser827Pro)
n.2884T>C
7g.143351927T>GCA369654242CLCN1c.2929T>G (p.Ser977Ala)
n.2869T>G
c.2953T>G (p.Ser985Ala)
c.1675T>G (p.Ser559Ala)
c.2503T>G (p.Ser835Ala)
c.2479T>G (p.Ser827Ala)
n.2884T>G
7g.143351928C>ACA369654243CLCN1c.2930C>A (p.Ser977Tyr)
n.2870C>A
c.2954C>A (p.Ser985Tyr)
c.1676C>A (p.Ser559Tyr)
c.2504C>A (p.Ser835Tyr)
c.2480C>A (p.Ser827Tyr)
n.2885C>A
7g.143351928C>GCA369654246CLCN1c.2930C>G (p.Ser977Cys)
n.2870C>G
c.2954C>G (p.Ser985Cys)
c.1676C>G (p.Ser559Cys)
c.2504C>G (p.Ser835Cys)
c.2480C>G (p.Ser827Cys)
n.2885C>G
7g.143351928C>TCA369654245CLCN1c.2930C>T (p.Ser977Phe)
n.2870C>T
c.2954C>T (p.Ser985Phe)
c.1676C>T (p.Ser559Phe)
c.2504C>T (p.Ser835Phe)
c.2480C>T (p.Ser827Phe)
n.2885C>T
7g.143351928_143351930delinsCCACA1748898399CLCN1c.2930_2932delinsCCA (p.Ser977=)
n.2870_2872delinsCCA
c.2954_2956delinsCCA (p.Ser985=)
c.1676_1678delinsCCA (p.Ser559=)
c.2504_2506delinsCCA (p.Ser835=)
c.2480_2482delinsCCA (p.Ser827=)
n.2885_2887delinsCCA
7g.143351929C>ACA458542640CLCN1c.2931C>A (p.Ser977=)
n.2871C>A
c.2955C>A (p.Ser985=)
c.1677C>A (p.Ser559=)
c.2505C>A (p.Ser835=)
c.2481C>A (p.Ser827=)
n.2886C>A
7g.143351929C>GCA458542641CLCN1c.2931C>G (p.Ser977=)
n.2871C>G
c.2955C>G (p.Ser985=)
c.1677C>G (p.Ser559=)
c.2505C>G (p.Ser835=)
c.2481C>G (p.Ser827=)
n.2886C>G
7g.143351929C>TCA458542642CLCN1c.2931C>T (p.Ser977=)
n.2871C>T
c.2955C>T (p.Ser985=)
c.1677C>T (p.Ser559=)
c.2505C>T (p.Ser835=)
c.2481C>T (p.Ser827=)
n.2886C>T
7g.143351931_143351932delCA4537816CLCN1c.2933_2934del (p.Thr978ArgfsTer5)
n.2873_2874del
c.2957_2958del (p.Thr986ArgfsTer5)
c.1679_1680del (p.Thr560ArgfsTer5)
c.2507_2508del (p.Thr836ArgfsTer5)
c.2483_2484del (p.Thr828ArgfsTer5)
n.2888_2889del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351930A>CCA369654250CLCN1c.2932A>C (p.Thr978Pro)
n.2872A>C
c.2956A>C (p.Thr986Pro)
c.1678A>C (p.Thr560Pro)
c.2506A>C (p.Thr836Pro)
c.2482A>C (p.Thr828Pro)
n.2887A>C
7g.143351930A>GCA369654249CLCN1c.2932A>G (p.Thr978Ala)
n.2872A>G
c.2956A>G (p.Thr986Ala)
c.1678A>G (p.Thr560Ala)
c.2506A>G (p.Thr836Ala)
c.2482A>G (p.Thr828Ala)
n.2887A>G
 gnomAD v4
7g.143351930A>TCA369654252CLCN1c.2932A>T (p.Thr978Ser)
n.2872A>T
c.2956A>T (p.Thr986Ser)
c.1678A>T (p.Thr560Ser)
c.2506A>T (p.Thr836Ser)
c.2482A>T (p.Thr828Ser)
n.2887A>T
7g.143351931C>ACA369654254CLCN1c.2933C>A (p.Thr978Lys)
n.2873C>A
c.2957C>A (p.Thr986Lys)
c.1679C>A (p.Thr560Lys)
c.2507C>A (p.Thr836Lys)
c.2483C>A (p.Thr828Lys)
n.2888C>A
7g.143351931C=CA1748898400CLCN1c.2933C= (p.Thr978=)
n.2873C=
c.2957C= (p.Thr986=)
c.1679C= (p.Thr560=)
c.2507C= (p.Thr836=)
c.2483C= (p.Thr828=)
n.2888C=
7g.143351931C>GCA369654256CLCN1c.2933C>G (p.Thr978Arg)
n.2873C>G
c.2957C>G (p.Thr986Arg)
c.1679C>G (p.Thr560Arg)
c.2507C>G (p.Thr836Arg)
c.2483C>G (p.Thr828Arg)
n.2888C>G
7g.143351931C>TCA369654257CLCN1c.2933C>T (p.Thr978Ile)
n.2873C>T
c.2957C>T (p.Thr986Ile)
c.1679C>T (p.Thr560Ile)
c.2507C>T (p.Thr836Ile)
c.2483C>T (p.Thr828Ile)
n.2888C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143351932A=CA1748898401CLCN1c.2934A= (p.Thr978=)
n.2874A=
c.2958A= (p.Thr986=)
c.1680A= (p.Thr560=)
c.2508A= (p.Thr836=)
c.2484A= (p.Thr828=)
n.2889A=
7g.143351932A>CCA458542648CLCN1c.2934A>C (p.Thr978=)
n.2874A>C
c.2958A>C (p.Thr986=)
c.1680A>C (p.Thr560=)
c.2508A>C (p.Thr836=)
c.2484A>C (p.Thr828=)
n.2889A>C
7g.143351932A>GCA4537817CLCN1c.2934A>G (p.Thr978=)
n.2874A>G
c.2958A>G (p.Thr986=)
c.1680A>G (p.Thr560=)
c.2508A>G (p.Thr836=)
c.2484A>G (p.Thr828=)
n.2889A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351932A>TCA458542647CLCN1c.2934A>T (p.Thr978=)
n.2874A>T
c.2958A>T (p.Thr986=)
c.1680A>T (p.Thr560=)
c.2508A>T (p.Thr836=)
c.2484A>T (p.Thr828=)
n.2889A>T
7g.143351933G>ACA369654260CLCN1c.2935G>A (p.Asp979Asn)
n.2875G>A
c.2959G>A (p.Asp987Asn)
c.1681G>A (p.Asp561Asn)
c.2509G>A (p.Asp837Asn)
c.2485G>A (p.Asp829Asn)
n.2890G>A
 gnomAD v4
7g.143351933G>CCA369654262CLCN1c.2935G>C (p.Asp979His)
n.2875G>C
c.2959G>C (p.Asp987His)
c.1681G>C (p.Asp561His)
c.2509G>C (p.Asp837His)
c.2485G>C (p.Asp829His)
n.2890G>C
7g.143351933G>TCA369654263CLCN1c.2935G>T (p.Asp979Tyr)
n.2875G>T
c.2959G>T (p.Asp987Tyr)
c.1681G>T (p.Asp561Tyr)
c.2509G>T (p.Asp837Tyr)
c.2485G>T (p.Asp829Tyr)
n.2890G>T
7g.143351934A>CCA369654265CLCN1c.2936A>C (p.Asp979Ala)
n.2876A>C
c.2960A>C (p.Asp987Ala)
c.1682A>C (p.Asp561Ala)
c.2510A>C (p.Asp837Ala)
c.2486A>C (p.Asp829Ala)
n.2891A>C
7g.143351934A>GCA369654266CLCN1c.2936A>G (p.Asp979Gly)
n.2876A>G
c.2960A>G (p.Asp987Gly)
c.1682A>G (p.Asp561Gly)
c.2510A>G (p.Asp837Gly)
c.2486A>G (p.Asp829Gly)
n.2891A>G
7g.143351934A>TCA369654267CLCN1c.2936A>T (p.Asp979Val)
n.2876A>T
c.2960A>T (p.Asp987Val)
c.1682A>T (p.Asp561Val)
c.2510A>T (p.Asp837Val)
c.2486A>T (p.Asp829Val)
n.2891A>T
7g.143351935C>ACA369654269CLCN1c.2937C>A (p.Asp979Glu)
n.2877C>A
c.2961C>A (p.Asp987Glu)
c.1683C>A (p.Asp561Glu)
c.2511C>A (p.Asp837Glu)
c.2487C>A (p.Asp829Glu)
n.2892C>A
 ClinVar gnomAD v4
7g.143351935C=CA1748898402CLCN1c.2937C= (p.Asp979=)
n.2877C=
c.2961C= (p.Asp987=)
c.1683C= (p.Asp561=)
c.2511C= (p.Asp837=)
c.2487C= (p.Asp829=)
n.2892C=
7g.143351935C>GCA369654270CLCN1c.2937C>G (p.Asp979Glu)
n.2877C>G
c.2961C>G (p.Asp987Glu)
c.1683C>G (p.Asp561Glu)
c.2511C>G (p.Asp837Glu)
c.2487C>G (p.Asp829Glu)
n.2892C>G
 dbSNP gnomAD v2 gnomAD v4
7g.143351935C>TCA4537818CLCN1c.2937C>T (p.Asp979=)
n.2877C>T
c.2961C>T (p.Asp987=)
c.1683C>T (p.Asp561=)
c.2511C>T (p.Asp837=)
c.2487C>T (p.Asp829=)
n.2892C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351936G>ACA4537819CLCN1c.2938G>A (p.Glu980Lys)
n.2878G>A
c.2962G>A (p.Glu988Lys)
c.1684G>A (p.Glu562Lys)
c.2512G>A (p.Glu838Lys)
c.2488G>A (p.Glu830Lys)
n.2893G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143351936G>CCA369654274CLCN1c.2938G>C (p.Glu980Gln)
n.2878G>C
c.2962G>C (p.Glu988Gln)
c.1684G>C (p.Glu562Gln)
c.2512G>C (p.Glu838Gln)
c.2488G>C (p.Glu830Gln)
n.2893G>C
 gnomAD v4
7g.143351936G=CA1748898403CLCN1c.2938G= (p.Glu980=)
n.2878G=
c.2962G= (p.Glu988=)
c.1684G= (p.Glu562=)
c.2512G= (p.Glu838=)
c.2488G= (p.Glu830=)
n.2893G=
7g.143351936G>TCA369654272CLCN1c.2938G>T (p.Glu980Ter)
n.2878G>T
c.2962G>T (p.Glu988Ter)
c.1684G>T (p.Glu562Ter)
c.2512G>T (p.Glu838Ter)
c.2488G>T (p.Glu830Ter)
n.2893G>T
7g.143351936_143351937insCAGAGGAGGATGAGGATGAACGCAGCA578626910CLCN1c.2938_2939insCAGAGGAGGATGAGGATGAACGCAG (p.Glu980AlafsTer12)
n.2878_2879insCAGAGGAGGATGAGGATGAACGCAG
c.2962_2963insCAGAGGAGGATGAGGATGAACGCAG (p.Glu988AlafsTer12)
c.1684_1685insCAGAGGAGGATGAGGATGAACGCAG (p.Glu562AlafsTer12)
c.2512_2513insCAGAGGAGGATGAGGATGAACGCAG (p.Glu838AlafsTer12)
c.2488_2489insCAGAGGAGGATGAGGATGAACGCAG (p.Glu830AlafsTer12)
n.2893_2894insCAGAGGAGGATGAGGATGAACGCAG
 dbSNP gnomAD v2 gnomAD v4
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.143351937A>CCA369654277CLCN1c.2939A>C (p.Glu980Ala)
n.2879A>C
c.2963A>C (p.Glu988Ala)
c.1685A>C (p.Glu562Ala)
c.2513A>C (p.Glu838Ala)
c.2489A>C (p.Glu830Ala)
n.2894A>C
7g.143351937A>GCA369654278CLCN1c.2939A>G (p.Glu980Gly)
n.2879A>G
c.2963A>G (p.Glu988Gly)
c.1685A>G (p.Glu562Gly)
c.2513A>G (p.Glu838Gly)
c.2489A>G (p.Glu830Gly)
n.2894A>G
7g.143351937A>TCA369654279CLCN1c.2939A>T (p.Glu980Val)
n.2879A>T
c.2963A>T (p.Glu988Val)
c.1685A>T (p.Glu562Val)
c.2513A>T (p.Glu838Val)
c.2489A>T (p.Glu830Val)
n.2894A>T
7g.143351938G>ACA458542657CLCN1c.2940G>A (p.Glu980=)
n.2880G>A
c.2964G>A (p.Glu988=)
c.1686G>A (p.Glu562=)
c.2514G>A (p.Glu838=)
c.2490G>A (p.Glu830=)
n.2895G>A
 ClinVar
7g.143351938G>CCA369654281CLCN1c.2940G>C (p.Glu980Asp)
n.2880G>C
c.2964G>C (p.Glu988Asp)
c.1686G>C (p.Glu562Asp)
c.2514G>C (p.Glu838Asp)
c.2490G>C (p.Glu830Asp)
n.2895G>C
7g.143351938G>TCA369654283CLCN1c.2940G>T (p.Glu980Asp)
n.2880G>T
c.2964G>T (p.Glu988Asp)
c.1686G>T (p.Glu562Asp)
c.2514G>T (p.Glu838Asp)
c.2490G>T (p.Glu830Asp)
n.2895G>T
7g.143351939G>ACA369654285CLCN1c.2941G>A (p.Glu981Lys)
n.2881G>A
c.2965G>A (p.Glu989Lys)
c.1687G>A (p.Glu563Lys)
c.2515G>A (p.Glu839Lys)
c.2491G>A (p.Glu831Lys)
n.2896G>A
 ClinVar dbSNP gnomAD v4
7g.143351939G>CCA369654286CLCN1c.2941G>C (p.Glu981Gln)
n.2881G>C
c.2965G>C (p.Glu989Gln)
c.1687G>C (p.Glu563Gln)
c.2515G>C (p.Glu839Gln)
c.2491G>C (p.Glu831Gln)
n.2896G>C
7g.143351939G=CA1748898404CLCN1c.2941G= (p.Glu981=)
n.2881G=
c.2965G= (p.Glu989=)
c.1687G= (p.Glu563=)
c.2515G= (p.Glu839=)
c.2491G= (p.Glu831=)
n.2896G=
7g.143351939G>TCA369654287CLCN1c.2941G>T (p.Glu981Ter)
n.2881G>T
c.2965G>T (p.Glu989Ter)
c.1687G>T (p.Glu563Ter)
c.2515G>T (p.Glu839Ter)
c.2491G>T (p.Glu831Ter)
n.2896G>T
7g.143351940A=CA1748898405CLCN1c.2942A= (p.Glu981=)
n.2882A=
c.2966A= (p.Glu989=)
c.1688A= (p.Glu563=)
c.2516A= (p.Glu839=)
c.2492A= (p.Glu831=)
n.2897A=
7g.143351940A>CCA369654290CLCN1c.2942A>C (p.Glu981Ala)
n.2882A>C
c.2966A>C (p.Glu989Ala)
c.1688A>C (p.Glu563Ala)
c.2516A>C (p.Glu839Ala)
c.2492A>C (p.Glu831Ala)
n.2897A>C
7g.143351940A>GCA369654292CLCN1c.2942A>G (p.Glu981Gly)
n.2882A>G
c.2966A>G (p.Glu989Gly)
c.1688A>G (p.Glu563Gly)
c.2516A>G (p.Glu839Gly)
c.2492A>G (p.Glu831Gly)
n.2897A>G
 dbSNP gnomAD v3 gnomAD v4
7g.143351940A>TCA369654293CLCN1c.2942A>T (p.Glu981Val)
n.2882A>T
c.2966A>T (p.Glu989Val)
c.1688A>T (p.Glu563Val)
c.2516A>T (p.Glu839Val)
c.2492A>T (p.Glu831Val)
n.2897A>T
7g.143351941G>ACA458542659CLCN1c.2943G>A (p.Glu981=)
n.2883G>A
c.2967G>A (p.Glu989=)
c.1689G>A (p.Glu563=)
c.2517G>A (p.Glu839=)
c.2493G>A (p.Glu831=)
n.2898G>A
 gnomAD v4
7g.143351941G>CCA369654294CLCN1c.2943G>C (p.Glu981Asp)
n.2883G>C
c.2967G>C (p.Glu989Asp)
c.1689G>C (p.Glu563Asp)
c.2517G>C (p.Glu839Asp)
c.2493G>C (p.Glu831Asp)
n.2898G>C
7g.143351941G>TCA369654295CLCN1c.2943G>T (p.Glu981Asp)
n.2883G>T
c.2967G>T (p.Glu989Asp)
c.1689G>T (p.Glu563Asp)
c.2517G>T (p.Glu839Asp)
c.2493G>T (p.Glu831Asp)
n.2898G>T
7g.143351942G>ACA369654299CLCN1c.2944G>A (p.Asp982Asn)
n.2884G>A
c.2968G>A (p.Asp990Asn)
c.1690G>A (p.Asp564Asn)
c.2518G>A (p.Asp840Asn)
c.2494G>A (p.Asp832Asn)
n.2899G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.143351942G>CCA369654300CLCN1c.2944G>C (p.Asp982His)
n.2884G>C
c.2968G>C (p.Asp990His)
c.1690G>C (p.Asp564His)
c.2518G>C (p.Asp840His)
c.2494G>C (p.Asp832His)
n.2899G>C
7g.143351942G=CA1748898406CLCN1c.2944G= (p.Asp982=)
n.2884G=
c.2968G= (p.Asp990=)
c.1690G= (p.Asp564=)
c.2518G= (p.Asp840=)
c.2494G= (p.Asp832=)
n.2899G=
7g.143351942G>TCA369654297CLCN1c.2944G>T (p.Asp982Tyr)
n.2884G>T
c.2968G>T (p.Asp990Tyr)
c.1690G>T (p.Asp564Tyr)
c.2518G>T (p.Asp840Tyr)
c.2494G>T (p.Asp832Tyr)
n.2899G>T
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

Number of alleles fetched