Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.143351862_143351867dup | CA1748898366 | CLCN1 | c.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 |
7 | g.143351865T>A | CA369654010 | CLCN1 | c.2867T>A (p.Leu956Gln) n.2807T>A c.2891T>A (p.Leu964Gln) c.1613T>A (p.Leu538Gln) c.2441T>A (p.Leu814Gln) c.2417T>A (p.Leu806Gln) n.2822T>A | |
7 | g.143351865T>C | CA369654011 | CLCN1 | c.2867T>C (p.Leu956Pro) n.2807T>C c.2891T>C (p.Leu964Pro) c.1613T>C (p.Leu538Pro) c.2441T>C (p.Leu814Pro) c.2417T>C (p.Leu806Pro) n.2822T>C | |
7 | g.143351865T>G | CA369654012 | CLCN1 | c.2867T>G (p.Leu956Arg) n.2807T>G c.2891T>G (p.Leu964Arg) c.1613T>G (p.Leu538Arg) c.2441T>G (p.Leu814Arg) c.2417T>G (p.Leu806Arg) n.2822T>G | |
7 | g.143351866G>A | CA168231762 | CLCN1 | c.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 |
7 | g.143351866G>C | CA458542487 | CLCN1 | c.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 |
7 | g.143351866G= | CA1748898371 | CLCN1 | c.2868G= (p.Leu956=) n.2808G= c.2892G= (p.Leu964=) c.1614G= (p.Leu538=) c.2442G= (p.Leu814=) c.2418G= (p.Leu806=) n.2823G= | |
7 | g.143351866G>T | CA458542489 | CLCN1 | c.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 | |
7 | g.143351867G>A | CA4537807 | CLCN1 | c.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 |
7 | g.143351867G>C | CA369654021 | CLCN1 | c.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 |
7 | g.143351867G= | CA1748898372 | CLCN1 | c.2869G= (p.Val957=) n.2809G= c.2893G= (p.Val965=) c.1615G= (p.Val539=) c.2443G= (p.Val815=) c.2419G= (p.Val807=) n.2824G= | |
7 | g.143351867G>T | CA369654015 | CLCN1 | c.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 |
7 | g.143351868T>A | CA369654023 | CLCN1 | c.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 | |
7 | g.143351868T>C | CA369654024 | CLCN1 | c.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 |
7 | g.143351868T>G | CA369654026 | CLCN1 | c.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 | |
7 | g.143351868T= | CA1748898373 | CLCN1 | c.2870T= (p.Val957=) n.2810T= c.2894T= (p.Val965=) c.1616T= (p.Val539=) c.2444T= (p.Val815=) c.2420T= (p.Val807=) n.2825T= | |
7 | g.143351869G>A | CA458542498 | CLCN1 | c.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 |
7 | g.143351869G>C | CA458542499 | CLCN1 | c.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 | |
7 | g.143351869G= | CA1748898374 | CLCN1 | c.2871G= (p.Val957=) n.2811G= c.2895G= (p.Val965=) c.1617G= (p.Val539=) c.2445G= (p.Val815=) c.2421G= (p.Val807=) n.2826G= | |
7 | g.143351869G>T | CA458542500 | CLCN1 | c.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 | |
7 | g.143351870G>A | CA369654028 | CLCN1 | c.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 |
7 | g.143351870G>C | CA369654029 | CLCN1 | c.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 | |
7 | g.143351870G= | CA1748898375 | CLCN1 | c.2872G= (p.Glu958=) n.2812G= c.2896G= (p.Glu966=) c.1618G= (p.Glu540=) c.2446G= (p.Glu816=) c.2422G= (p.Glu808=) n.2827G= | |
7 | g.143351870G>T | CA4537808 | CLCN1 | c.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 |
7 | g.143351871A>C | CA369654032 | CLCN1 | c.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 | |
7 | g.143351871A>G | CA369654034 | CLCN1 | c.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 | |
7 | g.143351871A>T | CA369654035 | CLCN1 | c.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 | |
7 | g.143351872G>A | CA458542503 | CLCN1 | c.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 |
7 | g.143351872G>C | CA369654037 | CLCN1 | c.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 | |
7 | g.143351872G= | CA1748898376 | CLCN1 | c.2874G= (p.Glu958=) n.2814G= c.2898G= (p.Glu966=) c.1620G= (p.Glu540=) c.2448G= (p.Glu816=) c.2424G= (p.Glu808=) n.2829G= | |
7 | g.143351872G>T | CA369654039 | CLCN1 | c.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 | |
7 | g.143351873A= | CA1748898377 | CLCN1 | c.2875A= (p.Ser959=) n.2815A= c.2899A= (p.Ser967=) c.1621A= (p.Ser541=) c.2449A= (p.Ser817=) c.2425A= (p.Ser809=) n.2830A= | |
7 | g.143351873A>C | CA369654042 | CLCN1 | c.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 | |
7 | g.143351873A>G | CA4537809 | CLCN1 | c.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 |
7 | g.143351873A>T | CA369654040 | CLCN1 | c.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 | |
7 | g.143351874G>A | CA369654045 | CLCN1 | c.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 |
7 | g.143351874G>C | CA369654046 | CLCN1 | c.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 | |
7 | g.143351874G>T | CA369654048 | CLCN1 | c.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 | |
7 | g.143351875T>A | CA369654050 | CLCN1 | c.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 | |
7 | g.143351875T>C | CA458542509 | CLCN1 | c.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 | |
7 | g.143351875T>G | CA369654052 | CLCN1 | c.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 | |
7 | g.143351876C>A | CA369654057 | CLCN1 | c.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 | |
7 | g.143351876C>G | CA369654056 | CLCN1 | c.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 |
7 | g.143351876C>T | CA369654054 | CLCN1 | c.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 | |
7 | g.143351877C>A | CA369654060 | CLCN1 | c.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 | |
7 | g.143351877C= | CA1748898378 | CLCN1 | c.2879C= (p.Pro960=) n.2819C= c.2903C= (p.Pro968=) c.1625C= (p.Pro542=) c.2453C= (p.Pro818=) c.2429C= (p.Pro810=) n.2834C= | |
7 | g.143351877C>G | CA369654061 | CLCN1 | c.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 |
7 | g.143351877C>T | CA369654062 | CLCN1 | c.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 | |
7 | g.143351878A= | CA1748898379 | CLCN1 | c.2880A= (p.Pro960=) n.2820A= c.2904A= (p.Pro968=) c.1626A= (p.Pro542=) c.2454A= (p.Pro818=) c.2430A= (p.Pro810=) n.2835A= | |
7 | g.143351878A>C | CA458542513 | CLCN1 | c.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 |
7 | g.143351878A>G | CA458542515 | CLCN1 | c.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 |
7 | g.143351878A>T | CA458542516 | CLCN1 | c.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 | |
7 | g.143351879G>A | CA369654064 | CLCN1 | c.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 | |
7 | g.143351879G>C | CA369654065 | CLCN1 | c.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 |
7 | g.143351879G= | CA1748898380 | CLCN1 | c.2881G= (p.Gly961=) n.2821G= c.2905G= (p.Gly969=) c.1627G= (p.Gly543=) c.2455G= (p.Gly819=) c.2431G= (p.Gly811=) n.2836G= | |
7 | g.143351879G>T | CA369654067 | CLCN1 | c.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 |
7 | g.143351880G>A | CA369654072 | CLCN1 | c.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 |
7 | g.143351880G>C | CA369654069 | CLCN1 | c.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 | |
7 | g.143351880G= | CA1748898381 | CLCN1 | c.2882G= (p.Gly961=) n.2822G= c.2906G= (p.Gly969=) c.1628G= (p.Gly543=) c.2456G= (p.Gly819=) c.2432G= (p.Gly811=) n.2837G= | |
7 | g.143351880G>T | CA369654070 | CLCN1 | c.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 | |
7 | g.143351881G>A | CA458542521 | CLCN1 | c.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 |
7 | g.143351881G>C | CA16605144 | CLCN1 | c.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 |
7 | g.143351881G= | CA1748898382 | CLCN1 | c.2883G= (p.Gly961=) n.2823G= c.2907G= (p.Gly969=) c.1629G= (p.Gly543=) c.2457G= (p.Gly819=) c.2433G= (p.Gly811=) n.2838G= | |
7 | g.143351881G>T | CA458542520 | CLCN1 | c.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 | |
7 | g.143351882C>A | CA369654075 | CLCN1 | c.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 |
7 | g.143351882C>G | CA369654077 | CLCN1 | c.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 | |
7 | g.143351882C>T | CA458542527 | CLCN1 | c.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 |
7 | g.143351883T>A | CA369654079 | CLCN1 | c.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 | |
7 | g.143351883T>C | CA369654080 | CLCN1 | c.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 | |
7 | g.143351883T>G | CA369654081 | CLCN1 | c.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 | |
7 | g.143351884G>A | CA458542534 | CLCN1 | c.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 |
7 | g.143351884G>C | CA458542535 | CLCN1 | c.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 | |
7 | g.143351884G>T | CA458542537 | CLCN1 | c.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 | |
7 | g.143351885G>A | CA369654083 | CLCN1 | c.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 |
7 | g.143351885G>C | CA369654085 | CLCN1 | c.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 | |
7 | g.143351885G= | CA1748898383 | CLCN1 | c.2887G= (p.Glu963=) n.2827G= c.2911G= (p.Glu971=) c.1633G= (p.Glu545=) c.2461G= (p.Glu821=) c.2437G= (p.Glu813=) n.2842G= | |
7 | g.143351885G>T | CA369654086 | CLCN1 | c.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 | |
7 | g.143351886A>C | CA369654088 | CLCN1 | c.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 | |
7 | g.143351886A>G | CA369654089 | CLCN1 | c.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 | |
7 | g.143351886A>T | CA369654091 | CLCN1 | c.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 | |
7 | g.143351887A= | CA1748898384 | CLCN1 | c.2889A= (p.Glu963=) n.2829A= c.2913A= (p.Glu971=) c.1635A= (p.Glu545=) c.2463A= (p.Glu821=) c.2439A= (p.Glu813=) n.2844A= | |
7 | g.143351887A>C | CA369654093 | CLCN1 | c.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 |
7 | g.143351887A>G | CA458542543 | CLCN1 | c.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 |
7 | g.143351887A>T | CA369654095 | CLCN1 | c.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 | |
7 | g.143351888G>A | CA369654099 | CLCN1 | c.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 |
7 | g.143351888G>C | CA4537810 | CLCN1 | c.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 |
7 | g.143351888G= | CA1748898385 | CLCN1 | c.2890G= (p.Glu964=) n.2830G= c.2914G= (p.Glu972=) c.1636G= (p.Glu546=) c.2464G= (p.Glu822=) c.2440G= (p.Glu814=) n.2845G= | |
7 | g.143351888G>T | CA369654097 | CLCN1 | c.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 | |
7 | g.143351889A>C | CA369654101 | CLCN1 | c.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 | |
7 | g.143351889A>G | CA369654105 | CLCN1 | c.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 | |
7 | g.143351889A>T | CA369654107 | CLCN1 | c.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 | |
7 | g.143351890G>A | CA458542547 | CLCN1 | c.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 |
7 | g.143351890G>C | CA369654109 | CLCN1 | c.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 | |
7 | g.143351890G>T | CA369654110 | CLCN1 | c.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 | |
7 | g.143351891G>A | CA369654111 | CLCN1 | c.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 | |
7 | g.143351891G>C | CA369654113 | CLCN1 | c.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 | |
7 | g.143351891G>T | CA369654115 | CLCN1 | c.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 | |
7 | g.143351892A>C | CA369654117 | CLCN1 | c.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 | |
7 | g.143351892A>G | CA369654118 | CLCN1 | c.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 | |
7 | g.143351892A>T | CA369654120 | CLCN1 | c.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 | |
7 | g.143351893G>A | CA458542552 | CLCN1 | c.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 | |
7 | g.143351893G>C | CA369654122 | CLCN1 | c.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 |
7 | g.143351893G>T | CA369654123 | CLCN1 | c.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 | |
7 | g.143351894C>A | CA369654127 | CLCN1 | c.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 | |
7 | g.143351894C= | CA1748898386 | CLCN1 | c.2896C= (p.Leu966=) n.2836C= c.2920C= (p.Leu974=) c.1642C= (p.Leu548=) c.2470C= (p.Leu824=) c.2446C= (p.Leu816=) n.2851C= | |
7 | g.143351894C>G | CA369654126 | CLCN1 | c.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 |
7 | g.143351894C>T | CA4537811 | CLCN1 | c.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 |
7 | g.143351895T>A | CA369654129 | CLCN1 | c.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 | |
7 | g.143351895T>C | CA369654130 | CLCN1 | c.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 | |
7 | g.143351895T>G | CA369654132 | CLCN1 | c.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 | |
7 | g.143351896G>A | CA458542560 | CLCN1 | c.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 |
7 | g.143351896G>C | CA458542562 | CLCN1 | c.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 | |
7 | g.143351896G>T | CA458542563 | CLCN1 | c.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 | |
7 | g.143351897G>A | CA369654134 | CLCN1 | c.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 |
7 | g.143351897G>C | CA369654136 | CLCN1 | c.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 | |
7 | g.143351897G>T | CA369654137 | CLCN1 | c.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 | |
7 | g.143351898C>A | CA369654139 | CLCN1 | c.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 | |
7 | g.143351898C>G | CA369654140 | CLCN1 | c.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 | |
7 | g.143351898C>T | CA369654141 | CLCN1 | c.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 |
7 | g.143351899C>A | CA458542568 | CLCN1 | c.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 |
7 | g.143351899C= | CA1748898387 | CLCN1 | c.2901C= (p.Ala967=) n.2841C= c.2925C= (p.Ala975=) c.1647C= (p.Ala549=) c.2475C= (p.Ala825=) c.2451C= (p.Ala817=) n.2856C= | |
7 | g.143351899C>G | CA458542569 | CLCN1 | c.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 | |
7 | g.143351899C>T | CA4537812 | CLCN1 | c.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 |
7 | g.143351900G>A | CA4537813 | CLCN1 | c.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 |
7 | g.143351900G>C | CA369654144 | CLCN1 | c.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 |
7 | g.143351900G= | CA1748898388 | CLCN1 | c.2902G= (p.Asp968=) n.2842G= c.2926G= (p.Asp976=) c.1648G= (p.Asp550=) c.2476G= (p.Asp826=) c.2452G= (p.Asp818=) n.2857G= | |
7 | g.143351900G>T | CA369654145 | CLCN1 | c.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 | |
7 | g.143351901A>C | CA369654148 | CLCN1 | c.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 | |
7 | g.143351901A>G | CA369654150 | CLCN1 | c.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 | |
7 | g.143351901A>T | CA369654147 | CLCN1 | c.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 | |
7 | g.143351902C>A | CA369654152 | CLCN1 | c.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 | |
7 | g.143351902C= | CA1748898389 | CLCN1 | c.2904C= (p.Asp968=) n.2844C= c.2928C= (p.Asp976=) c.1650C= (p.Asp550=) c.2478C= (p.Asp826=) c.2454C= (p.Asp818=) n.2859C= | |
7 | g.143351902C>G | CA369654154 | CLCN1 | c.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 | |
7 | g.143351902C>T | CA4537814 | CLCN1 | c.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 |
7 | g.143351903A= | CA1748898390 | CLCN1 | c.2905A= (p.Ile969=) n.2845A= c.2929A= (p.Ile977=) c.1651A= (p.Ile551=) c.2479A= (p.Ile827=) c.2455A= (p.Ile819=) n.2860A= | |
7 | g.143351903A>C | CA369654156 | CLCN1 | c.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 | |
7 | g.143351903A>G | CA369654158 | CLCN1 | c.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 |
7 | g.143351903A>T | CA369654159 | CLCN1 | c.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 | |
7 | g.143351904T>A | CA369654161 | CLCN1 | c.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 | |
7 | g.143351904T>C | CA369654163 | CLCN1 | c.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 | |
7 | g.143351904T>G | CA369654164 | CLCN1 | c.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 | |
7 | g.143351905C>A | CA458542579 | CLCN1 | c.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 | |
7 | g.143351905C>G | CA369654166 | CLCN1 | c.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 | |
7 | g.143351905C>T | CA458542583 | CLCN1 | c.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 | |
7 | g.143351906T>A | CA369654170 | CLCN1 | c.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 | |
7 | g.143351906T>C | CA458542584 | CLCN1 | c.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 | |
7 | g.143351906T>G | CA369654171 | CLCN1 | c.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 | |
7 | g.143351907T>A | CA369654173 | CLCN1 | c.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 |
7 | g.143351907T>C | CA369654175 | CLCN1 | c.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 | |
7 | g.143351907T>G | CA4537815 | CLCN1 | c.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 |
7 | g.143351907T= | CA1748898391 | CLCN1 | c.2909T= (p.Leu970=) n.2849T= c.2933T= (p.Leu978=) c.1655T= (p.Leu552=) c.2483T= (p.Leu828=) c.2459T= (p.Leu820=) n.2864T= | |
7 | g.143351908G>A | CA458542589 | CLCN1 | c.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 |
7 | g.143351908G>C | CA369654179 | CLCN1 | c.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 | |
7 | g.143351908G>T | CA369654177 | CLCN1 | c.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 | |
7 | g.143351909C>A | CA369654181 | CLCN1 | c.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 | |
7 | g.143351909C>G | CA369654182 | CLCN1 | c.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 | |
7 | g.143351909C>T | CA369654184 | CLCN1 | c.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 | |
7 | g.143351910A= | CA1748898392 | CLCN1 | c.2912A= (p.Gln971=) n.2852A= c.2936A= (p.Gln979=) c.1658A= (p.Gln553=) c.2486A= (p.Gln829=) c.2462A= (p.Gln821=) n.2867A= | |
7 | g.143351910A>C | CA369654186 | CLCN1 | c.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 | |
7 | g.143351910A>G | CA369654187 | CLCN1 | c.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 |
7 | g.143351910A>T | CA369654189 | CLCN1 | c.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 | |
7 | g.143351911G>A | CA458542597 | CLCN1 | c.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 | |
7 | g.143351911G>C | CA369654190 | CLCN1 | c.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 | |
7 | g.143351911G>T | CA369654192 | CLCN1 | c.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 | |
7 | g.143351912G>A | CA369654193 | CLCN1 | c.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 |
7 | g.143351912G>C | CA369654195 | CLCN1 | c.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 | |
7 | g.143351912G>T | CA369654197 | CLCN1 | c.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 | |
7 | g.143351913G>A | CA369654201 | CLCN1 | c.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 |
7 | g.143351913G>C | CA369654200 | CLCN1 | c.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 | |
7 | g.143351913G>T | CA369654199 | CLCN1 | c.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 | |
7 | g.143351913_143351914delinsGC | CA1748898393 | CLCN1 | c.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 | |
7 | g.143351914C>A | CA458542607 | CLCN1 | c.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 | |
7 | g.143351914C>G | CA458542608 | CLCN1 | c.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 | |
7 | g.143351914C>T | CA458542609 | CLCN1 | c.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 | |
7 | g.143351917del | CA578626909 | CLCN1 | c.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 |
7 | g.143351915C>A | CA369654203 | CLCN1 | c.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 | |
7 | g.143351915C>G | CA369654204 | CLCN1 | c.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 | |
7 | g.143351915C>T | CA369654205 | CLCN1 | c.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 | |
7 | g.143351916C>A | CA369654207 | CLCN1 | c.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 | |
7 | g.143351916C>G | CA369654208 | CLCN1 | c.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 | |
7 | g.143351916C>T | CA369654210 | CLCN1 | c.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 | |
7 | g.143351917C>A | CA458542613 | CLCN1 | c.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 |
7 | g.143351917C= | CA1748898394 | CLCN1 | c.2919C= (p.Pro973=) n.2859C= c.2943C= (p.Pro981=) c.1665C= (p.Pro555=) c.2493C= (p.Pro831=) c.2469C= (p.Pro823=) n.2874C= | |
7 | g.143351917C>G | CA458542611 | CLCN1 | c.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 | |
7 | g.143351917C>T | CA458542612 | CLCN1 | c.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 |
7 | g.143351918A>C | CA369654211 | CLCN1 | c.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 | |
7 | g.143351918A>G | CA369654212 | CLCN1 | c.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 | |
7 | g.143351918A>T | CA369654214 | CLCN1 | c.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 | |
7 | g.143351919G>A | CA369654216 | CLCN1 | c.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 | |
7 | g.143351919G>C | CA369654218 | CLCN1 | c.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 | |
7 | g.143351919G>T | CA369654219 | CLCN1 | c.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 | |
7 | g.143351920C>A | CA369654221 | CLCN1 | c.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 | |
7 | g.143351920C= | CA1748898395 | CLCN1 | c.2922C= (p.Ser974=) n.2862C= c.2946C= (p.Ser982=) c.1668C= (p.Ser556=) c.2496C= (p.Ser832=) c.2472C= (p.Ser824=) n.2877C= | |
7 | g.143351920C>G | CA369654223 | CLCN1 | c.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 |
7 | g.143351920C>T | CA458542616 | CLCN1 | c.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 | |
7 | g.143351921C>A | CA369654224 | CLCN1 | c.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 | |
7 | g.143351921C>G | CA369654226 | CLCN1 | c.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 | |
7 | g.143351921C>T | CA458542619 | CLCN1 | c.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 | |
7 | g.143351922T>A | CA369654227 | CLCN1 | c.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 | |
7 | g.143351922T>C | CA369654229 | CLCN1 | c.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 | |
7 | g.143351922T>G | CA369654231 | CLCN1 | c.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 | |
7 | g.143351923G>A | CA458542621 | CLCN1 | c.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 | |
7 | g.143351923G>C | CA458542622 | CLCN1 | c.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 | |
7 | g.143351923G>T | CA458542623 | CLCN1 | c.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 | |
7 | g.143351924C>A | CA458542625 | CLCN1 | c.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 | |
7 | g.143351924C= | CA1748898396 | CLCN1 | c.2926C= (p.Arg976=) n.2866C= c.2950C= (p.Arg984=) c.1672C= (p.Arg558=) c.2500C= (p.Arg834=) c.2476C= (p.Arg826=) n.2881C= | |
7 | g.143351924C>G | CA369654233 | CLCN1 | c.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 | |
7 | g.143351924C>T | CA248367 | CLCN1 | c.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 |
7 | g.143351925G>A | CA369654234 | CLCN1 | c.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 |
7 | g.143351925G>C | CA369654235 | CLCN1 | c.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 |
7 | g.143351925G= | CA1748898397 | CLCN1 | c.2927G= (p.Arg976=) n.2867G= c.2951G= (p.Arg984=) c.1673G= (p.Arg558=) c.2501G= (p.Arg834=) c.2477G= (p.Arg826=) n.2882G= | |
7 | g.143351925G>T | CA369654237 | CLCN1 | c.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 |
7 | g.143351926A= | CA1748898398 | CLCN1 | c.2928A= (p.Arg976=) n.2868A= c.2952A= (p.Arg984=) c.1674A= (p.Arg558=) c.2502A= (p.Arg834=) c.2478A= (p.Arg826=) n.2883A= | |
7 | g.143351926A>C | CA458542633 | CLCN1 | c.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 | |
7 | g.143351926A>G | CA458542635 | CLCN1 | c.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 |
7 | g.143351926A>T | CA458542637 | CLCN1 | c.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 |
7 | g.143351927T>A | CA369654239 | CLCN1 | c.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 |
7 | g.143351927T>C | CA369654240 | CLCN1 | c.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 | |
7 | g.143351927T>G | CA369654242 | CLCN1 | c.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 | |
7 | g.143351928C>A | CA369654243 | CLCN1 | c.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 | |
7 | g.143351928C>G | CA369654246 | CLCN1 | c.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 | |
7 | g.143351928C>T | CA369654245 | CLCN1 | c.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 | |
7 | g.143351928_143351930delinsCCA | CA1748898399 | CLCN1 | c.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 | |
7 | g.143351929C>A | CA458542640 | CLCN1 | c.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 | |
7 | g.143351929C>G | CA458542641 | CLCN1 | c.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 | |
7 | g.143351929C>T | CA458542642 | CLCN1 | c.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 | |
7 | g.143351931_143351932del | CA4537816 | CLCN1 | c.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 |
7 | g.143351930A>C | CA369654250 | CLCN1 | c.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 | |
7 | g.143351930A>G | CA369654249 | CLCN1 | c.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 |
7 | g.143351930A>T | CA369654252 | CLCN1 | c.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 | |
7 | g.143351931C>A | CA369654254 | CLCN1 | c.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 | |
7 | g.143351931C= | CA1748898400 | CLCN1 | c.2933C= (p.Thr978=) n.2873C= c.2957C= (p.Thr986=) c.1679C= (p.Thr560=) c.2507C= (p.Thr836=) c.2483C= (p.Thr828=) n.2888C= | |
7 | g.143351931C>G | CA369654256 | CLCN1 | c.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 | |
7 | g.143351931C>T | CA369654257 | CLCN1 | c.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 |
7 | g.143351932A= | CA1748898401 | CLCN1 | c.2934A= (p.Thr978=) n.2874A= c.2958A= (p.Thr986=) c.1680A= (p.Thr560=) c.2508A= (p.Thr836=) c.2484A= (p.Thr828=) n.2889A= | |
7 | g.143351932A>C | CA458542648 | CLCN1 | c.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 | |
7 | g.143351932A>G | CA4537817 | CLCN1 | c.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 |
7 | g.143351932A>T | CA458542647 | CLCN1 | c.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 | |
7 | g.143351933G>A | CA369654260 | CLCN1 | c.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 |
7 | g.143351933G>C | CA369654262 | CLCN1 | c.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 | |
7 | g.143351933G>T | CA369654263 | CLCN1 | c.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 | |
7 | g.143351934A>C | CA369654265 | CLCN1 | c.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 | |
7 | g.143351934A>G | CA369654266 | CLCN1 | c.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 | |
7 | g.143351934A>T | CA369654267 | CLCN1 | c.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 | |
7 | g.143351935C>A | CA369654269 | CLCN1 | c.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 |
7 | g.143351935C= | CA1748898402 | CLCN1 | c.2937C= (p.Asp979=) n.2877C= c.2961C= (p.Asp987=) c.1683C= (p.Asp561=) c.2511C= (p.Asp837=) c.2487C= (p.Asp829=) n.2892C= | |
7 | g.143351935C>G | CA369654270 | CLCN1 | c.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 |
7 | g.143351935C>T | CA4537818 | CLCN1 | c.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 |
7 | g.143351936G>A | CA4537819 | CLCN1 | c.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 |
7 | g.143351936G>C | CA369654274 | CLCN1 | c.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 |
7 | g.143351936G= | CA1748898403 | CLCN1 | c.2938G= (p.Glu980=) n.2878G= c.2962G= (p.Glu988=) c.1684G= (p.Glu562=) c.2512G= (p.Glu838=) c.2488G= (p.Glu830=) n.2893G= | |
7 | g.143351936G>T | CA369654272 | CLCN1 | c.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 | |
7 | g.143351936_143351937insCAGAGGAGGATGAGGATGAACGCAG | CA578626910 | CLCN1 | c.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 |
7 | g.143351941_143351943del | CA2685383275 | CLCN1 | c.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 |
7 | g.143351937A>C | CA369654277 | CLCN1 | c.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 | |
7 | g.143351937A>G | CA369654278 | CLCN1 | c.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 | |
7 | g.143351937A>T | CA369654279 | CLCN1 | c.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 | |
7 | g.143351938G>A | CA458542657 | CLCN1 | c.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 |
7 | g.143351938G>C | CA369654281 | CLCN1 | c.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 | |
7 | g.143351938G>T | CA369654283 | CLCN1 | c.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 | |
7 | g.143351939G>A | CA369654285 | CLCN1 | c.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 |
7 | g.143351939G>C | CA369654286 | CLCN1 | c.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 | |
7 | g.143351939G= | CA1748898404 | CLCN1 | c.2941G= (p.Glu981=) n.2881G= c.2965G= (p.Glu989=) c.1687G= (p.Glu563=) c.2515G= (p.Glu839=) c.2491G= (p.Glu831=) n.2896G= | |
7 | g.143351939G>T | CA369654287 | CLCN1 | c.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 | |
7 | g.143351940A= | CA1748898405 | CLCN1 | c.2942A= (p.Glu981=) n.2882A= c.2966A= (p.Glu989=) c.1688A= (p.Glu563=) c.2516A= (p.Glu839=) c.2492A= (p.Glu831=) n.2897A= | |
7 | g.143351940A>C | CA369654290 | CLCN1 | c.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 | |
7 | g.143351940A>G | CA369654292 | CLCN1 | c.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 |
7 | g.143351940A>T | CA369654293 | CLCN1 | c.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 | |
7 | g.143351941G>A | CA458542659 | CLCN1 | c.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 |
7 | g.143351941G>C | CA369654294 | CLCN1 | c.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 | |
7 | g.143351941G>T | CA369654295 | CLCN1 | c.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 | |
7 | g.143351942G>A | CA369654299 | CLCN1 | c.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 |
7 | g.143351942G>C | CA369654300 | CLCN1 | c.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 | |
7 | g.143351942G= | CA1748898406 | CLCN1 | c.2944G= (p.Asp982=) n.2884G= c.2968G= (p.Asp990=) c.1690G= (p.Asp564=) c.2518G= (p.Asp840=) c.2494G= (p.Asp832=) n.2899G= | |
7 | g.143351942G>T | CA369654297 | CLCN1 | c.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 | |
7 | g.143351943A= | CA1748898407 | CLCN1 | c.2945A= (p.Asp982=) n.2885A= c.2969A= (p.Asp990=) c.1691A= (p.Asp564=) c.2519A= (p.Asp840=) c.2495A= (p.Asp832=) n.2900A= | |
7 | g.143351943A>C | CA369654302 | CLCN1 | c.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 |
7 | g.143351943A>G | CA369654304 | CLCN1 | c.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 | |
7 | g.143351943A>T | CA369654306 | CLCN1 | c.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 | |
7 | g.143351944T>A | CA369654307 | CLCN1 | c.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 | |
7 | g.143351944T>C | CA458542672 | CLCN1 | c.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 | |
7 | g.143351944T>G | CA369654308 | CLCN1 | c.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 | |
7 | g.143351945G>A | CA369654310 | CLCN1 | c.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 |
7 | g.143351945G>C | CA369654312 | CLCN1 | c.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 | |
7 | g.143351945G= | CA1748898408 | CLCN1 | c.2947G= (p.Glu983=) n.2887G= c.2971G= (p.Glu991=) c.1693G= (p.Glu565=) c.2521G= (p.Glu841=) c.2497G= (p.Glu833=) n.2902G= | |
7 | g.143351945G>T | CA369654314 | CLCN1 | c.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 | |
7 | g.143351946A>C | CA369654315 | CLCN1 | c.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 | |
7 | g.143351946A>G | CA369654316 | CLCN1 | c.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 | |
7 | g.143351946A>T | CA369654317 | CLCN1 | c.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 | |
7 | g.143351947G>A | CA458542681 | CLCN1 | c.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 |
7 | g.143351947G>C | CA369654319 | CLCN1 | c.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 | |
7 | g.143351947G= | CA1748898409 | CLCN1 | c.2949G= (p.Glu983=) n.2889G= c.2973G= (p.Glu991=) c.1695G= (p.Glu565=) c.2523G= (p.Glu841=) c.2499G= (p.Glu833=) n.2904G= | |
7 | g.143351947G>T | CA369654321 | CLCN1 | c.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 | |
7 | g.143351948G>A | CA369654322 | CLCN1 | c.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 |
7 | g.143351948G>C | CA369654325 | CLCN1 | c.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 | |
7 | g.143351948G>T | CA369654323 | CLCN1 | c.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 | |
7 | g.143351949A>C | CA369654327 | CLCN1 | c.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 | |
7 | g.143351949A>G | CA369654328 | CLCN1 | c.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 |
7 | g.143351949A>T | CA369654330 | CLCN1 | c.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 | |
7 | g.143351950T>A | CA369654332 | CLCN1 | c.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 | |
7 | g.143351950T>C | CA458542691 | CLCN1 | c.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 | |
7 | g.143351950T>G | CA369654333 | CLCN1 | c.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 | |
7 | g.143351951G>A | CA369654335 | CLCN1 | c.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 |
7 | g.143351951G>C | CA369654337 | CLCN1 | c.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 | |
7 | g.143351951G>T | CA369654338 | CLCN1 | c.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 | |
7 | g.143351952A>C | CA369654340 | CLCN1 | c.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 | |
7 | g.143351952A>G | CA369654341 | CLCN1 | c.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 | |
7 | g.143351952A>T | CA369654343 | CLCN1 | c.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 | |
7 | g.143351953A>C | CA369654345 | CLCN1 | c.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 | |
7 | g.143351953A>G | CA458542697 | CLCN1 | c.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 | |
7 | g.143351953A>T | CA369654346 | CLCN1 | c.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 | |
7 | g.143351954C>A | CA369654347 | CLCN1 | c.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 | |
7 | g.143351954C= | CA1748898410 | CLCN1 | c.2956C= (p.Leu986=) n.2896C= c.2980C= (p.Leu994=) c.1702C= (p.Leu568=) c.2530C= (p.Leu844=) c.2506C= (p.Leu836=) n.2911C= | |
7 | g.143351954C>G | CA369654349 | CLCN1 | c.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 |
7 | g.143351954C>T | CA458542698 | CLCN1 | c.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 |
7 | g.143351955T>A | CA369654351 | CLCN1 | c.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 |
7 | g.143351955T>C | CA369654352 | CLCN1 | c.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 | |
7 | g.143351955T>G | CA369654353 | CLCN1 | c.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 | |
7 | g.143351955T= | CA1748898411 | CLCN1 | c.2957T= (p.Leu986=) n.2897T= c.2981T= (p.Leu994=) c.1703T= (p.Leu568=) c.2531T= (p.Leu844=) c.2507T= (p.Leu836=) n.2912T= | |
7 | g.143351956G>A | CA458542700 | CLCN1 | c.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 |
7 | g.143351956G>C | CA458542701 | CLCN1 | c.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 |
7 | g.143351956G= | CA1748898412 | CLCN1 | c.2958G= (p.Leu986=) n.2898G= c.2982G= (p.Leu994=) c.1704G= (p.Leu568=) c.2532G= (p.Leu844=) c.2508G= (p.Leu836=) n.2913G= | |
7 | g.143351956G>T | CA458542702 | CLCN1 | c.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 |
7 | g.143351957A= | CA1748898413 | CLCN1 | c.2959A= (p.Ile987=) n.2899A= c.2983A= (p.Ile995=) c.1705A= (p.Ile569=) c.2533A= (p.Ile845=) c.2509A= (p.Ile837=) n.2914A= | |
7 | g.143351957A>C | CA369654354 | CLCN1 | c.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 |
7 | g.143351957A>G | CA369654355 | CLCN1 | c.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 |
7 | g.143351957A>T | CA369654356 | CLCN1 | c.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 | |
7 | g.143351958T>A | CA369654360 | CLCN1 | c.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 |
7 | g.143351958T>C | CA369654357 | CLCN1 | c.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 | |
7 | g.143351958T>G | CA369654359 | CLCN1 | c.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 | |
7 | g.143351958_143351959delinsTC | CA1748898414 | CLCN1 | c.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 | |
7 | g.143351959C>A | CA458542705 | CLCN1 | c.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 | |
7 | g.143351959C= | CA1748898415 | CLCN1 | c.2961C= (p.Ile987=) n.2901C= c.2985C= (p.Ile995=) c.1707C= (p.Ile569=) c.2535C= (p.Ile845=) c.2511C= (p.Ile837=) n.2916C= | |
7 | g.143351959C>G | CA369654361 | CLCN1 | c.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 | |
7 | g.143351959C>T | CA458542704 | CLCN1 | c.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 |
7 | g.143351960del | CA4537820 | CLCN1 | c.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 |
7 | g.143351960C>A | CA369654363 | CLCN1 | c.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 | |
7 | g.143351960C= | CA1748898416 | CLCN1 | c.2962C= (p.Leu988=) n.2902C= c.2986C= (p.Leu996=) c.1708C= (p.Leu570=) c.2536C= (p.Leu846=) c.2512C= (p.Leu838=) n.2917C= | |
7 | g.143351960C>G | CA369654364 | CLCN1 | c.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 |
7 | g.143351960C>T | CA369654365 | CLCN1 | c.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 |
7 | g.143351961T>A | CA369654367 | CLCN1 | c.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 | |
7 | g.143351961T>C | CA369654370 | CLCN1 | c.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 | |
7 | g.143351961T>G | CA369654368 | CLCN1 | c.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 |
7 | g.143351962T>A | CA458542707 | CLCN1 | c.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 | |
7 | g.143351962T>C | CA458542708 | CLCN1 | c.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 |
7 | g.143351962T>G | CA458542710 | CLCN1 | c.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 | |
7 | g.143351963T>A | CA369654372 | CLCN1 | c.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 | |
7 | g.143351963T>C | CA369654374 | CLCN1 | c.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 | |
7 | g.143351963T>G | CA369654375 | CLCN1 | c.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 | |
7 | g.143351964G>A | CA458542711 | CLCN1 | c.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 | |
7 | g.143351964G>C | CA369654377 | CLCN1 | c.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 | |
7 | g.143351964G>T | CA369654379 | CLCN1 | c.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 | |
7 | g.143351965A= | CA1748898417 | CLCN1 | c.2967A= (p.Ter989=) n.2907A= c.2991A= (p.Ter997=) c.1713A= (p.Ter571=) c.2541A= (p.Ter847=) c.2517A= (p.Ter839=) n.2922A= | |
7 | g.143351965A>C | CA369654381 | CLCN1 | c.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 | |
7 | g.143351965A>G | CA369654382 | CLCN1 | c.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 | |
7 | g.143351965A>T | CA369654383 | CLCN1 | c.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 |