Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.143351709_143351714delinsCAGAGA | CA1748898294 | CLCN1 | c.2711_2716delinsCAGAGA (p.Ala904=) c.2535_2540delinsCAGAGA n.2651_2656delinsCAGAGA c.2735_2740delinsCAGAGA (p.Ala912=) c.1457_1462delinsCAGAGA (p.Ala486=) c.2285_2290delinsCAGAGA (p.Ala762=) c.2261_2266delinsCAGAGA (p.Ala754=) n.2666_2671delinsCAGAGA | |
7 | g.143351710A= | CA1748898296 | CLCN1 | c.2712A= (p.Ala904=) c.2536A= n.2652A= c.2736A= (p.Ala912=) c.1458A= (p.Ala486=) c.2286A= (p.Ala762=) c.2262A= (p.Ala754=) n.2667A= | |
7 | g.143351710A>C | CA458542463 | CLCN1 | c.2712A>C (p.Ala904=) c.2536A>C n.2652A>C c.2736A>C (p.Ala912=) c.1458A>C (p.Ala486=) c.2286A>C (p.Ala762=) c.2262A>C (p.Ala754=) n.2667A>C | |
7 | g.143351710A>G | CA458542464 | CLCN1 | c.2712A>G (p.Ala904=) c.2536A>G n.2652A>G c.2736A>G (p.Ala912=) c.1458A>G (p.Ala486=) c.2286A>G (p.Ala762=) c.2262A>G (p.Ala754=) n.2667A>G | dbSNP |
7 | g.143351710A>T | CA458542465 | CLCN1 | c.2712A>T (p.Ala904=) c.2536A>T n.2652A>T c.2736A>T (p.Ala912=) c.1458A>T (p.Ala486=) c.2286A>T (p.Ala762=) c.2262A>T (p.Ala754=) n.2667A>T | |
7 | g.143351711_143351715del | CA1748898295 | CLCN1 | c.2713_2717del (p.Glu905LeufsTer5) c.2537_2541del n.2653_2657del c.2737_2741del (p.Glu913LeufsTer5) c.1459_1463del (p.Glu487LeufsTer5) c.2287_2291del (p.Glu763LeufsTer5) c.2263_2267del (p.Glu755LeufsTer5) n.2668_2672del | dbSNP |
7 | g.143351711G>A | CA10628411 | CLCN1 | c.2713G>A (p.Glu905Lys) c.2537G>A n.2653G>A c.2737G>A (p.Glu913Lys) c.1459G>A (p.Glu487Lys) c.2287G>A (p.Glu763Lys) c.2263G>A (p.Glu755Lys) n.2668G>A | ClinVar dbSNP gnomAD v4 |
7 | g.143351711G>C | CA369653658 | CLCN1 | c.2713G>C (p.Glu905Gln) c.2537G>C n.2653G>C c.2737G>C (p.Glu913Gln) c.1459G>C (p.Glu487Gln) c.2287G>C (p.Glu763Gln) c.2263G>C (p.Glu755Gln) n.2668G>C | |
7 | g.143351711G= | CA1748898297 | CLCN1 | c.2713G= (p.Glu905=) c.2537G= n.2653G= c.2737G= (p.Glu913=) c.1459G= (p.Glu487=) c.2287G= (p.Glu763=) c.2263G= (p.Glu755=) n.2668G= | |
7 | g.143351711G>T | CA369653659 | CLCN1 | c.2713G>T (p.Glu905Ter) c.2537G>T n.2653G>T c.2737G>T (p.Glu913Ter) c.1459G>T (p.Glu487Ter) c.2287G>T (p.Glu763Ter) c.2263G>T (p.Glu755Ter) n.2668G>T | |
7 | g.143351712A>C | CA369653660 | CLCN1 | c.2714A>C (p.Glu905Ala) c.2538A>C n.2654A>C c.2738A>C (p.Glu913Ala) c.1460A>C (p.Glu487Ala) c.2288A>C (p.Glu763Ala) c.2264A>C (p.Glu755Ala) n.2669A>C | |
7 | g.143351712A>G | CA369653661 | CLCN1 | c.2714A>G (p.Glu905Gly) c.2538A>G n.2654A>G c.2738A>G (p.Glu913Gly) c.1460A>G (p.Glu487Gly) c.2288A>G (p.Glu763Gly) c.2264A>G (p.Glu755Gly) n.2669A>G | |
7 | g.143351712A>T | CA369653662 | CLCN1 | c.2714A>T (p.Glu905Val) c.2538A>T n.2654A>T c.2738A>T (p.Glu913Val) c.1460A>T (p.Glu487Val) c.2288A>T (p.Glu763Val) c.2264A>T (p.Glu755Val) n.2669A>T | |
7 | g.143351713G>A | CA458542470 | CLCN1 | c.2715G>A (p.Glu905=) c.2539G>A n.2655G>A c.2739G>A (p.Glu913=) c.1461G>A (p.Glu487=) c.2289G>A (p.Glu763=) c.2265G>A (p.Glu755=) n.2670G>A | |
7 | g.143351713G>C | CA369653663 | CLCN1 | c.2715G>C (p.Glu905Asp) c.2539G>C n.2655G>C c.2739G>C (p.Glu913Asp) c.1461G>C (p.Glu487Asp) c.2289G>C (p.Glu763Asp) c.2265G>C (p.Glu755Asp) n.2670G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.143351713G= | CA1748898298 | CLCN1 | c.2715G= (p.Glu905=) c.2539G= n.2655G= c.2739G= (p.Glu913=) c.1461G= (p.Glu487=) c.2289G= (p.Glu763=) c.2265G= (p.Glu755=) n.2670G= | |
7 | g.143351713G>T | CA369653664 | CLCN1 | c.2715G>T (p.Glu905Asp) c.2539G>T n.2655G>T c.2739G>T (p.Glu913Asp) c.1461G>T (p.Glu487Asp) c.2289G>T (p.Glu763Asp) c.2265G>T (p.Glu755Asp) n.2670G>T | |
7 | g.143351714A>C | CA369653665 | CLCN1 | c.2716A>C (p.Asn906His) c.2540A>C n.2656A>C c.2740A>C (p.Asn914His) c.1462A>C (p.Asn488His) c.2290A>C (p.Asn764His) c.2266A>C (p.Asn756His) n.2671A>C | |
7 | g.143351714A>G | CA369653666 | CLCN1 | c.2716A>G (p.Asn906Asp) c.2540A>G n.2656A>G c.2740A>G (p.Asn914Asp) c.1462A>G (p.Asn488Asp) c.2290A>G (p.Asn764Asp) c.2266A>G (p.Asn756Asp) n.2671A>G | |
7 | g.143351714A>T | CA369653667 | CLCN1 | c.2716A>T (p.Asn906Tyr) c.2540A>T n.2656A>T c.2740A>T (p.Asn914Tyr) c.1462A>T (p.Asn488Tyr) c.2290A>T (p.Asn764Tyr) c.2266A>T (p.Asn756Tyr) n.2671A>T | |
7 | g.143351715A>C | CA369653668 | CLCN1 | c.2717A>C (p.Asn906Thr) c.2541A>C n.2657A>C c.2741A>C (p.Asn914Thr) c.1463A>C (p.Asn488Thr) c.2291A>C (p.Asn764Thr) c.2267A>C (p.Asn756Thr) n.2672A>C | |
7 | g.143351715A>G | CA369653669 | CLCN1 | c.2717A>G (p.Asn906Ser) c.2541A>G n.2657A>G c.2741A>G (p.Asn914Ser) c.1463A>G (p.Asn488Ser) c.2291A>G (p.Asn764Ser) c.2267A>G (p.Asn756Ser) n.2672A>G | |
7 | g.143351715A>T | CA369653670 | CLCN1 | c.2717A>T (p.Asn906Ile) c.2541A>T n.2657A>T c.2741A>T (p.Asn914Ile) c.1463A>T (p.Asn488Ile) c.2291A>T (p.Asn764Ile) c.2267A>T (p.Asn756Ile) n.2672A>T | |
7 | g.143351716C>A | CA369653671 | CLCN1 | c.2718C>A (p.Asn906Lys) c.2542C>A n.2658C>A c.2742C>A (p.Asn914Lys) c.1464C>A (p.Asn488Lys) c.2292C>A (p.Asn764Lys) c.2268C>A (p.Asn756Lys) n.2673C>A | gnomAD v4 |
7 | g.143351716C>G | CA369653672 | CLCN1 | c.2718C>G (p.Asn906Lys) c.2542C>G n.2658C>G c.2742C>G (p.Asn914Lys) c.1464C>G (p.Asn488Lys) c.2292C>G (p.Asn764Lys) c.2268C>G (p.Asn756Lys) n.2673C>G | |
7 | g.143351716C>T | CA458542475 | CLCN1 | c.2718C>T (p.Asn906=) c.2542C>T n.2658C>T c.2742C>T (p.Asn914=) c.1464C>T (p.Asn488=) c.2292C>T (p.Asn764=) c.2268C>T (p.Asn756=) n.2673C>T | |
7 | g.143351717T>A | CA369653673 | CLCN1 | c.2719T>A (p.Trp907Arg) c.2543T>A n.2659T>A c.2743T>A (p.Trp915Arg) c.1465T>A (p.Trp489Arg) c.2293T>A (p.Trp765Arg) c.2269T>A (p.Trp757Arg) n.2674T>A | |
7 | g.143351717T>C | CA369653674 | CLCN1 | c.2719T>C (p.Trp907Arg) c.2543T>C n.2659T>C c.2743T>C (p.Trp915Arg) c.1465T>C (p.Trp489Arg) c.2293T>C (p.Trp765Arg) c.2269T>C (p.Trp757Arg) n.2674T>C | |
7 | g.143351717T>G | CA369653675 | CLCN1 | c.2719T>G (p.Trp907Gly) c.2543T>G n.2659T>G c.2743T>G (p.Trp915Gly) c.1465T>G (p.Trp489Gly) c.2293T>G (p.Trp765Gly) c.2269T>G (p.Trp757Gly) n.2674T>G | |
7 | g.143351718G>A | CA369653676 | CLCN1 | c.2720G>A (p.Trp907Ter) c.2544G>A n.2660G>A c.2744G>A (p.Trp915Ter) c.1466G>A (p.Trp489Ter) c.2294G>A (p.Trp765Ter) c.2270G>A (p.Trp757Ter) n.2675G>A | |
7 | g.143351718G>C | CA369653677 | CLCN1 | c.2720G>C (p.Trp907Ser) c.2544G>C n.2660G>C c.2744G>C (p.Trp915Ser) c.1466G>C (p.Trp489Ser) c.2294G>C (p.Trp765Ser) c.2270G>C (p.Trp757Ser) n.2675G>C | |
7 | g.143351718G>T | CA369653678 | CLCN1 | c.2720G>T (p.Trp907Leu) c.2544G>T n.2660G>T c.2744G>T (p.Trp915Leu) c.1466G>T (p.Trp489Leu) c.2294G>T (p.Trp765Leu) c.2270G>T (p.Trp757Leu) n.2675G>T | gnomAD v4 |
7 | g.143351719G>A | CA369653679 | CLCN1 | c.2721G>A (p.Trp907Ter) c.2545G>A n.2661G>A c.2745G>A (p.Trp915Ter) c.1467G>A (p.Trp489Ter) c.2295G>A (p.Trp765Ter) c.2271G>A (p.Trp757Ter) n.2676G>A | |
7 | g.143351719G>C | CA369653680 | CLCN1 | c.2721G>C (p.Trp907Cys) c.2545G>C n.2661G>C c.2745G>C (p.Trp915Cys) c.1467G>C (p.Trp489Cys) c.2295G>C (p.Trp765Cys) c.2271G>C (p.Trp757Cys) n.2676G>C | |
7 | g.143351719G>T | CA369653681 | CLCN1 | c.2721G>T (p.Trp907Cys) c.2545G>T n.2661G>T c.2745G>T (p.Trp915Cys) c.1467G>T (p.Trp489Cys) c.2295G>T (p.Trp765Cys) c.2271G>T (p.Trp757Cys) n.2676G>T | |
7 | g.143351720A= | CA1748898299 | CLCN1 | c.2722A= (p.Asn908=) c.2546A= n.2662A= c.2746A= (p.Asn916=) c.1468A= (p.Asn490=) c.2296A= (p.Asn766=) c.2272A= (p.Asn758=) n.2677A= | |
7 | g.143351720A>C | CA369653682 | CLCN1 | c.2722A>C (p.Asn908His) c.2546A>C n.2662A>C c.2746A>C (p.Asn916His) c.1468A>C (p.Asn490His) c.2296A>C (p.Asn766His) c.2272A>C (p.Asn758His) n.2677A>C | dbSNP |
7 | g.143351720A>G | CA4537773 | CLCN1 | c.2722A>G (p.Asn908Asp) c.2546A>G n.2662A>G c.2746A>G (p.Asn916Asp) c.1468A>G (p.Asn490Asp) c.2296A>G (p.Asn766Asp) c.2272A>G (p.Asn758Asp) n.2677A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351720A>T | CA369653683 | CLCN1 | c.2722A>T (p.Asn908Tyr) c.2546A>T n.2662A>T c.2746A>T (p.Asn916Tyr) c.1468A>T (p.Asn490Tyr) c.2296A>T (p.Asn766Tyr) c.2272A>T (p.Asn758Tyr) n.2677A>T | |
7 | g.143351721A>C | CA369653686 | CLCN1 | c.2723A>C (p.Asn908Thr) c.2547A>C n.2663A>C c.2747A>C (p.Asn916Thr) c.1469A>C (p.Asn490Thr) c.2297A>C (p.Asn766Thr) c.2273A>C (p.Asn758Thr) n.2678A>C | |
7 | g.143351721A>G | CA369653685 | CLCN1 | c.2723A>G (p.Asn908Ser) c.2547A>G n.2663A>G c.2747A>G (p.Asn916Ser) c.1469A>G (p.Asn490Ser) c.2297A>G (p.Asn766Ser) c.2273A>G (p.Asn758Ser) n.2678A>G | |
7 | g.143351721A>T | CA369653684 | CLCN1 | c.2723A>T (p.Asn908Ile) c.2547A>T n.2663A>T c.2747A>T (p.Asn916Ile) c.1469A>T (p.Asn490Ile) c.2297A>T (p.Asn766Ile) c.2273A>T (p.Asn758Ile) n.2678A>T | |
7 | g.143351722C>A | CA4537774 | CLCN1 | c.2724C>A (p.Asn908Lys) c.2548C>A n.2664C>A c.2748C>A (p.Asn916Lys) c.1470C>A (p.Asn490Lys) c.2298C>A (p.Asn766Lys) c.2274C>A (p.Asn758Lys) n.2679C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143351722C= | CA1748898300 | CLCN1 | c.2724C= (p.Asn908=) c.2548C= n.2664C= c.2748C= (p.Asn916=) c.1470C= (p.Asn490=) c.2298C= (p.Asn766=) c.2274C= (p.Asn758=) n.2679C= | |
7 | g.143351722C>G | CA168231530 | CLCN1 | c.2724C>G (p.Asn908Lys) c.2548C>G n.2664C>G c.2748C>G (p.Asn916Lys) c.1470C>G (p.Asn490Lys) c.2298C>G (p.Asn766Lys) c.2274C>G (p.Asn758Lys) n.2679C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351722C>T | CA458542488 | CLCN1 | c.2724C>T (p.Asn908=) c.2548C>T n.2664C>T c.2748C>T (p.Asn916=) c.1470C>T (p.Asn490=) c.2298C>T (p.Asn766=) c.2274C>T (p.Asn758=) n.2679C>T | dbSNP gnomAD v4 |
7 | g.143351723C>A | CA369653687 | CLCN1 | c.2725C>A (p.Leu909Met) c.2549C>A n.2665C>A c.2749C>A (p.Leu917Met) c.1471C>A (p.Leu491Met) c.2299C>A (p.Leu767Met) c.2275C>A (p.Leu759Met) n.2680C>A | |
7 | g.143351723C>G | CA369653688 | CLCN1 | c.2725C>G (p.Leu909Val) c.2549C>G n.2665C>G c.2749C>G (p.Leu917Val) c.1471C>G (p.Leu491Val) c.2299C>G (p.Leu767Val) c.2275C>G (p.Leu759Val) n.2680C>G | |
7 | g.143351723C>T | CA458542490 | CLCN1 | c.2725C>T (p.Leu909=) c.2549C>T n.2665C>T c.2749C>T (p.Leu917=) c.1471C>T (p.Leu491=) c.2299C>T (p.Leu767=) c.2275C>T (p.Leu759=) n.2680C>T | |
7 | g.143351724T>A | CA369653689 | CLCN1 | c.2726T>A (p.Leu909Gln) c.2550T>A n.2666T>A c.2750T>A (p.Leu917Gln) c.1472T>A (p.Leu491Gln) c.2300T>A (p.Leu767Gln) c.2276T>A (p.Leu759Gln) n.2681T>A | |
7 | g.143351724T>C | CA369653690 | CLCN1 | c.2726T>C (p.Leu909Pro) c.2550T>C n.2666T>C c.2750T>C (p.Leu917Pro) c.1472T>C (p.Leu491Pro) c.2300T>C (p.Leu767Pro) c.2276T>C (p.Leu759Pro) n.2681T>C | |
7 | g.143351724T>G | CA369653691 | CLCN1 | c.2726T>G (p.Leu909Arg) c.2550T>G n.2666T>G c.2750T>G (p.Leu917Arg) c.1472T>G (p.Leu491Arg) c.2300T>G (p.Leu767Arg) c.2276T>G (p.Leu759Arg) n.2681T>G | |
7 | g.143351725G>A | CA458542493 | CLCN1 | c.2727G>A (p.Leu909=) c.2551G>A n.2667G>A c.2751G>A (p.Leu917=) c.1473G>A (p.Leu491=) c.2301G>A (p.Leu767=) c.2277G>A (p.Leu759=) n.2682G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.143351725G>C | CA458542491 | CLCN1 | c.2727G>C (p.Leu909=) c.2551G>C n.2667G>C c.2751G>C (p.Leu917=) c.1473G>C (p.Leu491=) c.2301G>C (p.Leu767=) c.2277G>C (p.Leu759=) n.2682G>C | |
7 | g.143351725G= | CA1748898301 | CLCN1 | c.2727G= (p.Leu909=) c.2551G= n.2667G= c.2751G= (p.Leu917=) c.1473G= (p.Leu491=) c.2301G= (p.Leu767=) c.2277G= (p.Leu759=) n.2682G= | |
7 | g.143351725G>T | CA458542492 | CLCN1 | c.2727G>T (p.Leu909=) c.2551G>T n.2667G>T c.2751G>T (p.Leu917=) c.1473G>T (p.Leu491=) c.2301G>T (p.Leu767=) c.2277G>T (p.Leu759=) n.2682G>T | |
7 | g.143351726C>A | CA369653692 | CLCN1 | c.2728C>A (p.Pro910Thr) c.2552C>A n.2668C>A c.2752C>A (p.Pro918Thr) c.1474C>A (p.Pro492Thr) c.2302C>A (p.Pro768Thr) c.2278C>A (p.Pro760Thr) n.2683C>A | |
7 | g.143351726C>G | CA369653693 | CLCN1 | c.2728C>G (p.Pro910Ala) c.2552C>G n.2668C>G c.2752C>G (p.Pro918Ala) c.1474C>G (p.Pro492Ala) c.2302C>G (p.Pro768Ala) c.2278C>G (p.Pro760Ala) n.2683C>G | |
7 | g.143351726C>T | CA369653694 | CLCN1 | c.2728C>T (p.Pro910Ser) c.2552C>T n.2668C>T c.2752C>T (p.Pro918Ser) c.1474C>T (p.Pro492Ser) c.2302C>T (p.Pro768Ser) c.2278C>T (p.Pro760Ser) n.2683C>T | |
7 | g.143351727C>A | CA369653695 | CLCN1 | c.2729C>A (p.Pro910His) c.2553C>A n.2669C>A c.2753C>A (p.Pro918His) c.1475C>A (p.Pro492His) c.2303C>A (p.Pro768His) c.2279C>A (p.Pro760His) n.2684C>A | |
7 | g.143351727C>G | CA369653696 | CLCN1 | c.2729C>G (p.Pro910Arg) c.2553C>G n.2669C>G c.2753C>G (p.Pro918Arg) c.1475C>G (p.Pro492Arg) c.2303C>G (p.Pro768Arg) c.2279C>G (p.Pro760Arg) n.2684C>G | |
7 | g.143351727C>T | CA369653697 | CLCN1 | c.2729C>T (p.Pro910Leu) c.2553C>T n.2669C>T c.2753C>T (p.Pro918Leu) c.1475C>T (p.Pro492Leu) c.2303C>T (p.Pro768Leu) c.2279C>T (p.Pro760Leu) n.2684C>T | |
7 | g.143351728T>A | CA458542494 | CLCN1 | c.2730T>A (p.Pro910=) c.2554T>A n.2670T>A c.2754T>A (p.Pro918=) c.1476T>A (p.Pro492=) c.2304T>A (p.Pro768=) c.2280T>A (p.Pro760=) n.2685T>A | |
7 | g.143351728T>C | CA458542495 | CLCN1 | c.2730T>C (p.Pro910=) c.2554T>C n.2670T>C c.2754T>C (p.Pro918=) c.1476T>C (p.Pro492=) c.2304T>C (p.Pro768=) c.2280T>C (p.Pro760=) n.2685T>C | ClinVar |
7 | g.143351728T>G | CA458542497 | CLCN1 | c.2730T>G (p.Pro910=) c.2554T>G n.2670T>G c.2754T>G (p.Pro918=) c.1476T>G (p.Pro492=) c.2304T>G (p.Pro768=) c.2280T>G (p.Pro760=) n.2685T>G | |
7 | g.143351729G>A | CA4537775 | CLCN1 | c.2731G>A (p.Glu911Lys) c.2555G>A n.2671G>A c.2755G>A (p.Glu919Lys) c.1477G>A (p.Glu493Lys) c.2305G>A (p.Glu769Lys) c.2281G>A (p.Glu761Lys) n.2686G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143351729G>C | CA369653699 | CLCN1 | c.2731G>C (p.Glu911Gln) c.2555G>C n.2671G>C c.2755G>C (p.Glu919Gln) c.1477G>C (p.Glu493Gln) c.2305G>C (p.Glu769Gln) c.2281G>C (p.Glu761Gln) n.2686G>C | |
7 | g.143351729G= | CA1748898302 | CLCN1 | c.2731G= (p.Glu911=) c.2555G= n.2671G= c.2755G= (p.Glu919=) c.1477G= (p.Glu493=) c.2305G= (p.Glu769=) c.2281G= (p.Glu761=) n.2686G= | |
7 | g.143351729G>T | CA369653698 | CLCN1 | c.2731G>T (p.Glu911Ter) c.2555G>T n.2671G>T c.2755G>T (p.Glu919Ter) c.1477G>T (p.Glu493Ter) c.2305G>T (p.Glu769Ter) c.2281G>T (p.Glu761Ter) n.2686G>T | |
7 | g.143351730A>C | CA369653701 | CLCN1 | c.2732A>C (p.Glu911Ala) c.2556A>C n.2672A>C c.2756A>C (p.Glu919Ala) c.1478A>C (p.Glu493Ala) c.2306A>C (p.Glu769Ala) c.2282A>C (p.Glu761Ala) n.2687A>C | |
7 | g.143351730A>G | CA369653700 | CLCN1 | c.2732A>G (p.Glu911Gly) c.2556A>G n.2672A>G c.2756A>G (p.Glu919Gly) c.1478A>G (p.Glu493Gly) c.2306A>G (p.Glu769Gly) c.2282A>G (p.Glu761Gly) n.2687A>G | gnomAD v4 |
7 | g.143351730A>T | CA369653702 | CLCN1 | c.2732A>T (p.Glu911Val) c.2556A>T n.2672A>T c.2756A>T (p.Glu919Val) c.1478A>T (p.Glu493Val) c.2306A>T (p.Glu769Val) c.2282A>T (p.Glu761Val) n.2687A>T | |
7 | g.143351731G>A | CA458542501 | CLCN1 | c.2733G>A (p.Glu911=) c.2557G>A n.2673G>A c.2757G>A (p.Glu919=) c.1479G>A (p.Glu493=) c.2307G>A (p.Glu769=) c.2283G>A (p.Glu761=) n.2688G>A | gnomAD v4 |
7 | g.143351731G>C | CA369653703 | CLCN1 | c.2733G>C (p.Glu911Asp) c.2557G>C n.2673G>C c.2757G>C (p.Glu919Asp) c.1479G>C (p.Glu493Asp) c.2307G>C (p.Glu769Asp) c.2283G>C (p.Glu761Asp) n.2688G>C | |
7 | g.143351731G= | CA1748898303 | CLCN1 | c.2733G= (p.Glu911=) c.2557G= n.2673G= c.2757G= (p.Glu919=) c.1479G= (p.Glu493=) c.2307G= (p.Glu769=) c.2283G= (p.Glu761=) n.2688G= | |
7 | g.143351731G>T | CA4537776 | CLCN1 | c.2733G>T (p.Glu911Asp) c.2557G>T n.2673G>T c.2757G>T (p.Glu919Asp) c.1479G>T (p.Glu493Asp) c.2307G>T (p.Glu769Asp) c.2283G>T (p.Glu761Asp) n.2688G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351732G>A | CA369653704 | CLCN1 | c.2734G>A (p.Asp912Asn) c.2558G>A n.2674G>A c.2758G>A (p.Asp920Asn) c.1480G>A (p.Asp494Asn) c.2308G>A (p.Asp770Asn) c.2284G>A (p.Asp762Asn) n.2689G>A | dbSNP gnomAD v4 |
7 | g.143351732G>C | CA369653705 | CLCN1 | c.2734G>C (p.Asp912His) c.2558G>C n.2674G>C c.2758G>C (p.Asp920His) c.1480G>C (p.Asp494His) c.2308G>C (p.Asp770His) c.2284G>C (p.Asp762His) n.2689G>C | |
7 | g.143351732G= | CA1748898304 | CLCN1 | c.2734G= (p.Asp912=) c.2558G= n.2674G= c.2758G= (p.Asp920=) c.1480G= (p.Asp494=) c.2308G= (p.Asp770=) c.2284G= (p.Asp762=) n.2689G= | |
7 | g.143351732G>T | CA369653706 | CLCN1 | c.2734G>T (p.Asp912Tyr) c.2558G>T n.2674G>T c.2758G>T (p.Asp920Tyr) c.1480G>T (p.Asp494Tyr) c.2308G>T (p.Asp770Tyr) c.2284G>T (p.Asp762Tyr) n.2689G>T | |
7 | g.143351733A= | CA1748898305 | CLCN1 | c.2735A= (p.Asp912=) c.2559A= n.2675A= c.2759A= (p.Asp920=) c.1481A= (p.Asp494=) c.2309A= (p.Asp770=) c.2285A= (p.Asp762=) n.2690A= | |
7 | g.143351733A>C | CA369653707 | CLCN1 | c.2735A>C (p.Asp912Ala) c.2559A>C n.2675A>C c.2759A>C (p.Asp920Ala) c.1481A>C (p.Asp494Ala) c.2309A>C (p.Asp770Ala) c.2285A>C (p.Asp762Ala) n.2690A>C | |
7 | g.143351733A>G | CA369653708 | CLCN1 | c.2735A>G (p.Asp912Gly) c.2559A>G n.2675A>G c.2759A>G (p.Asp920Gly) c.1481A>G (p.Asp494Gly) c.2309A>G (p.Asp770Gly) c.2285A>G (p.Asp762Gly) n.2690A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.143351733A>T | CA4537777 | CLCN1 | c.2735A>T (p.Asp912Val) c.2559A>T n.2675A>T c.2759A>T (p.Asp920Val) c.1481A>T (p.Asp494Val) c.2309A>T (p.Asp770Val) c.2285A>T (p.Asp762Val) n.2690A>T | dbSNP ExAC gnomAD v2 |
7 | g.143351734C>A | CA369653709 | CLCN1 | c.2736C>A (p.Asp912Glu) c.2560C>A n.2676C>A c.2760C>A (p.Asp920Glu) c.1482C>A (p.Asp494Glu) c.2310C>A (p.Asp770Glu) c.2286C>A (p.Asp762Glu) n.2691C>A | |
7 | g.143351734C>G | CA369653710 | CLCN1 | c.2736C>G (p.Asp912Glu) c.2560C>G n.2676C>G c.2760C>G (p.Asp920Glu) c.1482C>G (p.Asp494Glu) c.2310C>G (p.Asp770Glu) c.2286C>G (p.Asp762Glu) n.2691C>G | |
7 | g.143351734C>T | CA458542506 | CLCN1 | c.2736C>T (p.Asp912=) c.2560C>T n.2676C>T c.2760C>T (p.Asp920=) c.1482C>T (p.Asp494=) c.2310C>T (p.Asp770=) c.2286C>T (p.Asp762=) n.2691C>T | gnomAD v4 |
7 | g.143351735A>C | CA458542507 | CLCN1 | c.2737A>C (p.Arg913=) n.2677A>C c.2761A>C (p.Arg921=) c.1483A>C (p.Arg495=) c.2311A>C (p.Arg771=) c.2287A>C (p.Arg763=) n.2692A>C | |
7 | g.143351735A>G | CA369653711 | CLCN1 | c.2737A>G (p.Arg913Gly) n.2677A>G c.2761A>G (p.Arg921Gly) c.1483A>G (p.Arg495Gly) c.2311A>G (p.Arg771Gly) c.2287A>G (p.Arg763Gly) n.2692A>G | |
7 | g.143351735A>T | CA369653712 | CLCN1 | c.2737A>T (p.Arg913Trp) n.2677A>T c.2761A>T (p.Arg921Trp) c.1483A>T (p.Arg495Trp) c.2311A>T (p.Arg771Trp) c.2287A>T (p.Arg763Trp) n.2692A>T | |
7 | g.143351736G>A | CA369653715 | CLCN1 | c.2738G>A (p.Arg913Lys) n.2678G>A c.2762G>A (p.Arg921Lys) c.1484G>A (p.Arg495Lys) c.2312G>A (p.Arg771Lys) c.2288G>A (p.Arg763Lys) n.2693G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.143351736G>C | CA369653713 | CLCN1 | c.2738G>C (p.Arg913Thr) n.2678G>C c.2762G>C (p.Arg921Thr) c.1484G>C (p.Arg495Thr) c.2312G>C (p.Arg771Thr) c.2288G>C (p.Arg763Thr) n.2693G>C | |
7 | g.143351736G= | CA1748898306 | CLCN1 | c.2738G= (p.Arg913=) n.2678G= c.2762G= (p.Arg921=) c.1484G= (p.Arg495=) c.2312G= (p.Arg771=) c.2288G= (p.Arg763=) n.2693G= | |
7 | g.143351736G>T | CA369653714 | CLCN1 | c.2738G>T (p.Arg913Met) n.2678G>T c.2762G>T (p.Arg921Met) c.1484G>T (p.Arg495Met) c.2312G>T (p.Arg771Met) c.2288G>T (p.Arg763Met) n.2693G>T | |
7 | g.143351737G>A | CA458542508 | CLCN1 | c.2739G>A (p.Arg913=) n.2679G>A c.2763G>A (p.Arg921=) c.1485G>A (p.Arg495=) c.2313G>A (p.Arg771=) c.2289G>A (p.Arg763=) n.2694G>A | gnomAD v4 COSMIC |
7 | g.143351737G>C | CA369653716 | CLCN1 | c.2739G>C (p.Arg913Ser) n.2679G>C c.2763G>C (p.Arg921Ser) c.1485G>C (p.Arg495Ser) c.2313G>C (p.Arg771Ser) c.2289G>C (p.Arg763Ser) n.2694G>C | |
7 | g.143351737G>T | CA369653717 | CLCN1 | c.2739G>T (p.Arg913Ser) n.2679G>T c.2763G>T (p.Arg921Ser) c.1485G>T (p.Arg495Ser) c.2313G>T (p.Arg771Ser) c.2289G>T (p.Arg763Ser) n.2694G>T | |
7 | g.143351738C>A | CA369653718 | CLCN1 | c.2740C>A (p.Pro914Thr) n.2680C>A c.2764C>A (p.Pro922Thr) c.1486C>A (p.Pro496Thr) c.2314C>A (p.Pro772Thr) c.2290C>A (p.Pro764Thr) n.2695C>A | |
7 | g.143351738C>G | CA369653719 | CLCN1 | c.2740C>G (p.Pro914Ala) n.2680C>G c.2764C>G (p.Pro922Ala) c.1486C>G (p.Pro496Ala) c.2314C>G (p.Pro772Ala) c.2290C>G (p.Pro764Ala) n.2695C>G | |
7 | g.143351738C>T | CA369653720 | CLCN1 | c.2740C>T (p.Pro914Ser) n.2680C>T c.2764C>T (p.Pro922Ser) c.1486C>T (p.Pro496Ser) c.2314C>T (p.Pro772Ser) c.2290C>T (p.Pro764Ser) n.2695C>T | |
7 | g.143351739C>A | CA369653721 | CLCN1 | c.2741C>A (p.Pro914His) n.2681C>A c.2765C>A (p.Pro922His) c.1487C>A (p.Pro496His) c.2315C>A (p.Pro772His) c.2291C>A (p.Pro764His) n.2696C>A | |
7 | g.143351739C= | CA1748898307 | CLCN1 | c.2741C= (p.Pro914=) n.2681C= c.2765C= (p.Pro922=) c.1487C= (p.Pro496=) c.2315C= (p.Pro772=) c.2291C= (p.Pro764=) n.2696C= | |
7 | g.143351739C>G | CA4537778 | CLCN1 | c.2741C>G (p.Pro914Arg) n.2681C>G c.2765C>G (p.Pro922Arg) c.1487C>G (p.Pro496Arg) c.2315C>G (p.Pro772Arg) c.2291C>G (p.Pro764Arg) n.2696C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143351739C>T | CA369653722 | CLCN1 | c.2741C>T (p.Pro914Leu) n.2681C>T c.2765C>T (p.Pro922Leu) c.1487C>T (p.Pro496Leu) c.2315C>T (p.Pro772Leu) c.2291C>T (p.Pro764Leu) n.2696C>T | |
7 | g.143351740T>A | CA458542512 | CLCN1 | c.2742T>A (p.Pro914=) n.2682T>A c.2766T>A (p.Pro922=) c.1488T>A (p.Pro496=) c.2316T>A (p.Pro772=) c.2292T>A (p.Pro764=) n.2697T>A | |
7 | g.143351740T>C | CA458542511 | CLCN1 | c.2742T>C (p.Pro914=) n.2682T>C c.2766T>C (p.Pro922=) c.1488T>C (p.Pro496=) c.2316T>C (p.Pro772=) c.2292T>C (p.Pro764=) n.2697T>C | gnomAD v4 |
7 | g.143351740T>G | CA458542510 | CLCN1 | c.2742T>G (p.Pro914=) n.2682T>G c.2766T>G (p.Pro922=) c.1488T>G (p.Pro496=) c.2316T>G (p.Pro772=) c.2292T>G (p.Pro764=) n.2697T>G | |
7 | g.143351741G>A | CA369653723 | CLCN1 | c.2743G>A (p.Gly915Arg) n.2683G>A c.2767G>A (p.Gly923Arg) c.1489G>A (p.Gly497Arg) c.2317G>A (p.Gly773Arg) c.2293G>A (p.Gly765Arg) n.2698G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.143351741G>C | CA369653724 | CLCN1 | c.2743G>C (p.Gly915Arg) n.2683G>C c.2767G>C (p.Gly923Arg) c.1489G>C (p.Gly497Arg) c.2317G>C (p.Gly773Arg) c.2293G>C (p.Gly765Arg) n.2698G>C | |
7 | g.143351741G= | CA1748898308 | CLCN1 | c.2743G= (p.Gly915=) n.2683G= c.2767G= (p.Gly923=) c.1489G= (p.Gly497=) c.2317G= (p.Gly773=) c.2293G= (p.Gly765=) n.2698G= | |
7 | g.143351741G>T | CA369653725 | CLCN1 | c.2743G>T (p.Gly915Trp) n.2683G>T c.2767G>T (p.Gly923Trp) c.1489G>T (p.Gly497Trp) c.2317G>T (p.Gly773Trp) c.2293G>T (p.Gly765Trp) n.2698G>T | |
7 | g.143351742G>A | CA369653727 | CLCN1 | c.2744G>A (p.Gly915Glu) n.2684G>A c.2768G>A (p.Gly923Glu) c.1490G>A (p.Gly497Glu) c.2318G>A (p.Gly773Glu) c.2294G>A (p.Gly765Glu) n.2699G>A | |
7 | g.143351742G>C | CA369653728 | CLCN1 | c.2744G>C (p.Gly915Ala) n.2684G>C c.2768G>C (p.Gly923Ala) c.1490G>C (p.Gly497Ala) c.2318G>C (p.Gly773Ala) c.2294G>C (p.Gly765Ala) n.2699G>C | |
7 | g.143351742G>T | CA369653726 | CLCN1 | c.2744G>T (p.Gly915Val) n.2684G>T c.2768G>T (p.Gly923Val) c.1490G>T (p.Gly497Val) c.2318G>T (p.Gly773Val) c.2294G>T (p.Gly765Val) n.2699G>T | |
7 | g.143351743G>A | CA458542517 | CLCN1 | c.2745G>A (p.Gly915=) n.2685G>A c.2769G>A (p.Gly923=) c.1491G>A (p.Gly497=) c.2319G>A (p.Gly773=) c.2295G>A (p.Gly765=) n.2700G>A | gnomAD v3 gnomAD v4 |
7 | g.143351743G>C | CA458542518 | CLCN1 | c.2745G>C (p.Gly915=) n.2685G>C c.2769G>C (p.Gly923=) c.1491G>C (p.Gly497=) c.2319G>C (p.Gly773=) c.2295G>C (p.Gly765=) n.2700G>C | |
7 | g.143351743G>T | CA458542519 | CLCN1 | c.2745G>T (p.Gly915=) n.2685G>T c.2769G>T (p.Gly923=) c.1491G>T (p.Gly497=) c.2319G>T (p.Gly773=) c.2295G>T (p.Gly765=) n.2700G>T | |
7 | g.143351744G>A | CA369653729 | CLCN1 | c.2746G>A (p.Ala916Thr) n.2686G>A c.2770G>A (p.Ala924Thr) c.1492G>A (p.Ala498Thr) c.2320G>A (p.Ala774Thr) c.2296G>A (p.Ala766Thr) n.2701G>A | |
7 | g.143351744G>C | CA369653730 | CLCN1 | c.2746G>C (p.Ala916Pro) n.2686G>C c.2770G>C (p.Ala924Pro) c.1492G>C (p.Ala498Pro) c.2320G>C (p.Ala774Pro) c.2296G>C (p.Ala766Pro) n.2701G>C | |
7 | g.143351744G>T | CA369653731 | CLCN1 | c.2746G>T (p.Ala916Ser) n.2686G>T c.2770G>T (p.Ala924Ser) c.1492G>T (p.Ala498Ser) c.2320G>T (p.Ala774Ser) c.2296G>T (p.Ala766Ser) n.2701G>T | |
7 | g.143351745C>A | CA369653732 | CLCN1 | c.2747C>A (p.Ala916Asp) n.2687C>A c.2771C>A (p.Ala924Asp) c.1493C>A (p.Ala498Asp) c.2321C>A (p.Ala774Asp) c.2297C>A (p.Ala766Asp) n.2702C>A | |
7 | g.143351745C= | CA1748898309 | CLCN1 | c.2747C= (p.Ala916=) n.2687C= c.2771C= (p.Ala924=) c.1493C= (p.Ala498=) c.2321C= (p.Ala774=) c.2297C= (p.Ala766=) n.2702C= | |
7 | g.143351745C>G | CA369653733 | CLCN1 | c.2747C>G (p.Ala916Gly) n.2687C>G c.2771C>G (p.Ala924Gly) c.1493C>G (p.Ala498Gly) c.2321C>G (p.Ala774Gly) c.2297C>G (p.Ala766Gly) n.2702C>G | |
7 | g.143351745C>T | CA4537779 | CLCN1 | c.2747C>T (p.Ala916Val) n.2687C>T c.2771C>T (p.Ala924Val) c.1493C>T (p.Ala498Val) c.2321C>T (p.Ala774Val) c.2297C>T (p.Ala766Val) n.2702C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143351746C>A | CA458542526 | CLCN1 | c.2748C>A (p.Ala916=) n.2688C>A c.2772C>A (p.Ala924=) c.1494C>A (p.Ala498=) c.2322C>A (p.Ala774=) c.2298C>A (p.Ala766=) n.2703C>A | |
7 | g.143351746C>G | CA458542528 | CLCN1 | c.2748C>G (p.Ala916=) n.2688C>G c.2772C>G (p.Ala924=) c.1494C>G (p.Ala498=) c.2322C>G (p.Ala774=) c.2298C>G (p.Ala766=) n.2703C>G | gnomAD v4 |
7 | g.143351746C>T | CA458542525 | CLCN1 | c.2748C>T (p.Ala916=) n.2688C>T c.2772C>T (p.Ala924=) c.1494C>T (p.Ala498=) c.2322C>T (p.Ala774=) c.2298C>T (p.Ala766=) n.2703C>T | gnomAD v4 |
7 | g.143351747A= | CA1748898310 | CLCN1 | c.2749A= (p.Thr917=) n.2689A= c.2773A= (p.Thr925=) c.1495A= (p.Thr499=) c.2323A= (p.Thr775=) c.2299A= (p.Thr767=) n.2704A= | |
7 | g.143351747A>C | CA369653734 | CLCN1 | c.2749A>C (p.Thr917Pro) n.2689A>C c.2773A>C (p.Thr925Pro) c.1495A>C (p.Thr499Pro) c.2323A>C (p.Thr775Pro) c.2299A>C (p.Thr767Pro) n.2704A>C | |
7 | g.143351747A>G | CA369653735 | CLCN1 | c.2749A>G (p.Thr917Ala) n.2689A>G c.2773A>G (p.Thr925Ala) c.1495A>G (p.Thr499Ala) c.2323A>G (p.Thr775Ala) c.2299A>G (p.Thr767Ala) n.2704A>G | ClinVar dbSNP gnomAD v4 |
7 | g.143351747A>T | CA369653736 | CLCN1 | c.2749A>T (p.Thr917Ser) n.2689A>T c.2773A>T (p.Thr925Ser) c.1495A>T (p.Thr499Ser) c.2323A>T (p.Thr775Ser) c.2299A>T (p.Thr767Ser) n.2704A>T | |
7 | g.143351748C>A | CA369653737 | CLCN1 | c.2750C>A (p.Thr917Asn) n.2690C>A c.2774C>A (p.Thr925Asn) c.1496C>A (p.Thr499Asn) c.2324C>A (p.Thr775Asn) c.2300C>A (p.Thr767Asn) n.2705C>A | |
7 | g.143351748C>G | CA369653738 | CLCN1 | c.2750C>G (p.Thr917Ser) n.2690C>G c.2774C>G (p.Thr925Ser) c.1496C>G (p.Thr499Ser) c.2324C>G (p.Thr775Ser) c.2300C>G (p.Thr767Ser) n.2705C>G | |
7 | g.143351748C>T | CA369653739 | CLCN1 | c.2750C>T (p.Thr917Ile) n.2690C>T c.2774C>T (p.Thr925Ile) c.1496C>T (p.Thr499Ile) c.2324C>T (p.Thr775Ile) c.2300C>T (p.Thr767Ile) n.2705C>T | |
7 | g.143351749T>A | CA458542529 | CLCN1 | c.2751T>A (p.Thr917=) n.2691T>A c.2775T>A (p.Thr925=) c.1497T>A (p.Thr499=) c.2325T>A (p.Thr775=) c.2301T>A (p.Thr767=) n.2706T>A | |
7 | g.143351749T>C | CA458542530 | CLCN1 | c.2751T>C (p.Thr917=) n.2691T>C c.2775T>C (p.Thr925=) c.1497T>C (p.Thr499=) c.2325T>C (p.Thr775=) c.2301T>C (p.Thr767=) n.2706T>C | dbSNP gnomAD v4 |
7 | g.143351749T>G | CA458542531 | CLCN1 | c.2751T>G (p.Thr917=) n.2691T>G c.2775T>G (p.Thr925=) c.1497T>G (p.Thr499=) c.2325T>G (p.Thr775=) c.2301T>G (p.Thr767=) n.2706T>G | |
7 | g.143351749T= | CA1748898311 | CLCN1 | c.2751T= (p.Thr917=) n.2691T= c.2775T= (p.Thr925=) c.1497T= (p.Thr499=) c.2325T= (p.Thr775=) c.2301T= (p.Thr767=) n.2706T= | |
7 | g.143351750G>A | CA369653741 | CLCN1 | c.2752G>A (p.Gly918Arg) n.2692G>A c.2776G>A (p.Gly926Arg) c.1498G>A (p.Gly500Arg) c.2326G>A (p.Gly776Arg) c.2302G>A (p.Gly768Arg) n.2707G>A | |
7 | g.143351750G>C | CA369653742 | CLCN1 | c.2752G>C (p.Gly918Arg) n.2692G>C c.2776G>C (p.Gly926Arg) c.1498G>C (p.Gly500Arg) c.2326G>C (p.Gly776Arg) c.2302G>C (p.Gly768Arg) n.2707G>C | |
7 | g.143351750G>T | CA369653740 | CLCN1 | c.2752G>T (p.Gly918Ter) n.2692G>T c.2776G>T (p.Gly926Ter) c.1498G>T (p.Gly500Ter) c.2326G>T (p.Gly776Ter) c.2302G>T (p.Gly768Ter) n.2707G>T | |
7 | g.143351751del | CA2685382817 | CLCN1 | c.2753del (p.Gly918GlufsTer5) n.2693del c.2777del (p.Gly926GlufsTer5) c.1499del (p.Gly500GlufsTer5) c.2327del (p.Gly776GlufsTer5) c.2303del (p.Gly768GlufsTer5) n.2708del | gnomAD v4 |
7 | g.143351751G>A | CA369653743 | CLCN1 | c.2753G>A (p.Gly918Glu) n.2693G>A c.2777G>A (p.Gly926Glu) c.1499G>A (p.Gly500Glu) c.2327G>A (p.Gly776Glu) c.2303G>A (p.Gly768Glu) n.2708G>A | COSMIC |
7 | g.143351751G>C | CA369653744 | CLCN1 | c.2753G>C (p.Gly918Ala) n.2693G>C c.2777G>C (p.Gly926Ala) c.1499G>C (p.Gly500Ala) c.2327G>C (p.Gly776Ala) c.2303G>C (p.Gly768Ala) n.2708G>C | COSMIC |
7 | g.143351751G>T | CA369653745 | CLCN1 | c.2753G>T (p.Gly918Val) n.2693G>T c.2777G>T (p.Gly926Val) c.1499G>T (p.Gly500Val) c.2327G>T (p.Gly776Val) c.2303G>T (p.Gly768Val) n.2708G>T | |
7 | g.143351752A>C | CA458542539 | CLCN1 | c.2754A>C (p.Gly918=) n.2694A>C c.2778A>C (p.Gly926=) c.1500A>C (p.Gly500=) c.2328A>C (p.Gly776=) c.2304A>C (p.Gly768=) n.2709A>C | |
7 | g.143351752A>G | CA458542541 | CLCN1 | c.2754A>G (p.Gly918=) n.2694A>G c.2778A>G (p.Gly926=) c.1500A>G (p.Gly500=) c.2328A>G (p.Gly776=) c.2304A>G (p.Gly768=) n.2709A>G | |
7 | g.143351752A>T | CA458542542 | CLCN1 | c.2754A>T (p.Gly918=) n.2694A>T c.2778A>T (p.Gly926=) c.1500A>T (p.Gly500=) c.2328A>T (p.Gly776=) c.2304A>T (p.Gly768=) n.2709A>T | |
7 | g.143351753A>C | CA369653746 | CLCN1 | c.2755A>C (p.Thr919Pro) n.2695A>C c.2779A>C (p.Thr927Pro) c.1501A>C (p.Thr501Pro) c.2329A>C (p.Thr777Pro) c.2305A>C (p.Thr769Pro) n.2710A>C | |
7 | g.143351753A>G | CA369653747 | CLCN1 | c.2755A>G (p.Thr919Ala) n.2695A>G c.2779A>G (p.Thr927Ala) c.1501A>G (p.Thr501Ala) c.2329A>G (p.Thr777Ala) c.2305A>G (p.Thr769Ala) n.2710A>G | |
7 | g.143351753A>T | CA369653748 | CLCN1 | c.2755A>T (p.Thr919Ser) n.2695A>T c.2779A>T (p.Thr927Ser) c.1501A>T (p.Thr501Ser) c.2329A>T (p.Thr777Ser) c.2305A>T (p.Thr769Ser) n.2710A>T | |
7 | g.143351754C>A | CA369653751 | CLCN1 | c.2756C>A (p.Thr919Lys) n.2696C>A c.2780C>A (p.Thr927Lys) c.1502C>A (p.Thr501Lys) c.2330C>A (p.Thr777Lys) c.2306C>A (p.Thr769Lys) n.2711C>A | |
7 | g.143351754C>G | CA369653749 | CLCN1 | c.2756C>G (p.Thr919Arg) n.2696C>G c.2780C>G (p.Thr927Arg) c.1502C>G (p.Thr501Arg) c.2330C>G (p.Thr777Arg) c.2306C>G (p.Thr769Arg) n.2711C>G | |
7 | g.143351754C>T | CA369653750 | CLCN1 | c.2756C>T (p.Thr919Ile) n.2696C>T c.2780C>T (p.Thr927Ile) c.1502C>T (p.Thr501Ile) c.2330C>T (p.Thr777Ile) c.2306C>T (p.Thr769Ile) n.2711C>T | |
7 | g.143351755A= | CA1748898312 | CLCN1 | c.2757A= (p.Thr919=) n.2697A= c.2781A= (p.Thr927=) c.1503A= (p.Thr501=) c.2331A= (p.Thr777=) c.2307A= (p.Thr769=) n.2712A= | |
7 | g.143351755A>C | CA458542544 | CLCN1 | c.2757A>C (p.Thr919=) n.2697A>C c.2781A>C (p.Thr927=) c.1503A>C (p.Thr501=) c.2331A>C (p.Thr777=) c.2307A>C (p.Thr769=) n.2712A>C | |
7 | g.143351755A>G | CA168231571 | CLCN1 | c.2757A>G (p.Thr919=) n.2697A>G c.2781A>G (p.Thr927=) c.1503A>G (p.Thr501=) c.2331A>G (p.Thr777=) c.2307A>G (p.Thr769=) n.2712A>G | ClinVar dbSNP |
7 | g.143351755A>T | CA458542545 | CLCN1 | c.2757A>T (p.Thr919=) n.2697A>T c.2781A>T (p.Thr927=) c.1503A>T (p.Thr501=) c.2331A>T (p.Thr777=) c.2307A>T (p.Thr769=) n.2712A>T | |
7 | g.143351756G>A | CA4537780 | CLCN1 | c.2758G>A (p.Gly920Arg) n.2698G>A c.2782G>A (p.Gly928Arg) c.1504G>A (p.Gly502Arg) c.2332G>A (p.Gly778Arg) c.2308G>A (p.Gly770Arg) n.2713G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351756G>C | CA369653752 | CLCN1 | c.2758G>C (p.Gly920Arg) n.2698G>C c.2782G>C (p.Gly928Arg) c.1504G>C (p.Gly502Arg) c.2332G>C (p.Gly778Arg) c.2308G>C (p.Gly770Arg) n.2713G>C | |
7 | g.143351756G= | CA1748898313 | CLCN1 | c.2758G= (p.Gly920=) n.2698G= c.2782G= (p.Gly928=) c.1504G= (p.Gly502=) c.2332G= (p.Gly778=) c.2308G= (p.Gly770=) n.2713G= | |
7 | g.143351756G>T | CA369653753 | CLCN1 | c.2758G>T (p.Gly920Trp) n.2698G>T c.2782G>T (p.Gly928Trp) c.1504G>T (p.Gly502Trp) c.2332G>T (p.Gly778Trp) c.2308G>T (p.Gly770Trp) n.2713G>T | |
7 | g.143351757G>A | CA4537781 | CLCN1 | c.2759G>A (p.Gly920Glu) n.2699G>A c.2783G>A (p.Gly928Glu) c.1505G>A (p.Gly502Glu) c.2333G>A (p.Gly778Glu) c.2309G>A (p.Gly770Glu) n.2714G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351757G>C | CA369653754 | CLCN1 | c.2759G>C (p.Gly920Ala) n.2699G>C c.2783G>C (p.Gly928Ala) c.1505G>C (p.Gly502Ala) c.2333G>C (p.Gly778Ala) c.2309G>C (p.Gly770Ala) n.2714G>C | |
7 | g.143351757G= | CA1748898314 | CLCN1 | c.2759G= (p.Gly920=) n.2699G= c.2783G= (p.Gly928=) c.1505G= (p.Gly502=) c.2333G= (p.Gly778=) c.2309G= (p.Gly770=) n.2714G= | |
7 | g.143351757G>T | CA369653755 | CLCN1 | c.2759G>T (p.Gly920Val) n.2699G>T c.2783G>T (p.Gly928Val) c.1505G>T (p.Gly502Val) c.2333G>T (p.Gly778Val) c.2309G>T (p.Gly770Val) n.2714G>T | |
7 | g.143351758G>A | CA458542549 | CLCN1 | c.2760G>A (p.Gly920=) n.2700G>A c.2784G>A (p.Gly928=) c.1506G>A (p.Gly502=) c.2334G>A (p.Gly778=) c.2310G>A (p.Gly770=) n.2715G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.143351758G>C | CA458542550 | CLCN1 | c.2760G>C (p.Gly920=) n.2700G>C c.2784G>C (p.Gly928=) c.1506G>C (p.Gly502=) c.2334G>C (p.Gly778=) c.2310G>C (p.Gly770=) n.2715G>C | |
7 | g.143351758G= | CA1748898315 | CLCN1 | c.2760G= (p.Gly920=) n.2700G= c.2784G= (p.Gly928=) c.1506G= (p.Gly502=) c.2334G= (p.Gly778=) c.2310G= (p.Gly770=) n.2715G= | |
7 | g.143351758G>T | CA458542551 | CLCN1 | c.2760G>T (p.Gly920=) n.2700G>T c.2784G>T (p.Gly928=) c.1506G>T (p.Gly502=) c.2334G>T (p.Gly778=) c.2310G>T (p.Gly770=) n.2715G>T | |
7 | g.143351759G>A | CA168231581 | CLCN1 | c.2761G>A (p.Asp921Asn) n.2701G>A c.2785G>A (p.Asp929Asn) c.1507G>A (p.Asp503Asn) c.2335G>A (p.Asp779Asn) c.2311G>A (p.Asp771Asn) n.2716G>A | dbSNP gnomAD v4 |
7 | g.143351759G>C | CA369653757 | CLCN1 | c.2761G>C (p.Asp921His) n.2701G>C c.2785G>C (p.Asp929His) c.1507G>C (p.Asp503His) c.2335G>C (p.Asp779His) c.2311G>C (p.Asp771His) n.2716G>C | |
7 | g.143351759G= | CA1748898316 | CLCN1 | c.2761G= (p.Asp921=) n.2701G= c.2785G= (p.Asp929=) c.1507G= (p.Asp503=) c.2335G= (p.Asp779=) c.2311G= (p.Asp771=) n.2716G= | |
7 | g.143351759G>T | CA369653756 | CLCN1 | c.2761G>T (p.Asp921Tyr) n.2701G>T c.2785G>T (p.Asp929Tyr) c.1507G>T (p.Asp503Tyr) c.2335G>T (p.Asp779Tyr) c.2311G>T (p.Asp771Tyr) n.2716G>T | dbSNP gnomAD v4 |
7 | g.143351760A>C | CA369653758 | CLCN1 | c.2762A>C (p.Asp921Ala) n.2702A>C c.2786A>C (p.Asp929Ala) c.1508A>C (p.Asp503Ala) c.2336A>C (p.Asp779Ala) c.2312A>C (p.Asp771Ala) n.2717A>C | |
7 | g.143351760A>G | CA369653760 | CLCN1 | c.2762A>G (p.Asp921Gly) n.2702A>G c.2786A>G (p.Asp929Gly) c.1508A>G (p.Asp503Gly) c.2336A>G (p.Asp779Gly) c.2312A>G (p.Asp771Gly) n.2717A>G | |
7 | g.143351760A>T | CA369653759 | CLCN1 | c.2762A>T (p.Asp921Val) n.2702A>T c.2786A>T (p.Asp929Val) c.1508A>T (p.Asp503Val) c.2336A>T (p.Asp779Val) c.2312A>T (p.Asp771Val) n.2717A>T | |
7 | g.143351760_143351762delinsATG | CA1748898317 | CLCN1 | c.2762_2764delinsATG (p.Asp921=) n.2702_2704delinsATG c.2786_2788delinsATG (p.Asp929=) c.1508_1510delinsATG (p.Asp503=) c.2336_2338delinsATG (p.Asp779=) c.2312_2314delinsATG (p.Asp771=) n.2717_2719delinsATG | |
7 | g.143351761T>A | CA369653761 | CLCN1 | c.2763T>A (p.Asp921Glu) n.2703T>A c.2787T>A (p.Asp929Glu) c.1509T>A (p.Asp503Glu) c.2337T>A (p.Asp779Glu) c.2313T>A (p.Asp771Glu) n.2718T>A | |
7 | g.143351761T>C | CA458542556 | CLCN1 | c.2763T>C (p.Asp921=) n.2703T>C c.2787T>C (p.Asp929=) c.1509T>C (p.Asp503=) c.2337T>C (p.Asp779=) c.2313T>C (p.Asp771=) n.2718T>C | gnomAD v4 |
7 | g.143351761T>G | CA369653762 | CLCN1 | c.2763T>G (p.Asp921Glu) n.2703T>G c.2787T>G (p.Asp929Glu) c.1509T>G (p.Asp503Glu) c.2337T>G (p.Asp779Glu) c.2313T>G (p.Asp771Glu) n.2718T>G | |
7 | g.143351763_143351764del | CA891842700 | CLCN1 | c.2765_2766del (p.Val922AspfsTer?) n.2705_2706del c.2789_2790del (p.Val930AspfsTer?) c.1511_1512del (p.Val504AspfsTer?) c.2339_2340del (p.Val780AspfsTer?) c.2315_2316del (p.Val772AspfsTer?) n.2720_2721del | ClinVar dbSNP gnomAD v4 |
7 | g.143351762G>A | CA168231592 | CLCN1 | c.2764G>A (p.Val922Met) n.2704G>A c.2788G>A (p.Val930Met) c.1510G>A (p.Val504Met) c.2338G>A (p.Val780Met) c.2314G>A (p.Val772Met) n.2719G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.143351762G>C | CA369653763 | CLCN1 | c.2764G>C (p.Val922Leu) n.2704G>C c.2788G>C (p.Val930Leu) c.1510G>C (p.Val504Leu) c.2338G>C (p.Val780Leu) c.2314G>C (p.Val772Leu) n.2719G>C | |
7 | g.143351762G= | CA1748898318 | CLCN1 | c.2764G= (p.Val922=) n.2704G= c.2788G= (p.Val930=) c.1510G= (p.Val504=) c.2338G= (p.Val780=) c.2314G= (p.Val772=) n.2719G= | |
7 | g.143351762G>T | CA369653764 | CLCN1 | c.2764G>T (p.Val922Leu) n.2704G>T c.2788G>T (p.Val930Leu) c.1510G>T (p.Val504Leu) c.2338G>T (p.Val780Leu) c.2314G>T (p.Val772Leu) n.2719G>T | |
7 | g.143351763T>A | CA369653765 | CLCN1 | c.2765T>A (p.Val922Glu) n.2705T>A c.2789T>A (p.Val930Glu) c.1511T>A (p.Val504Glu) c.2339T>A (p.Val780Glu) c.2315T>A (p.Val772Glu) n.2720T>A | |
7 | g.143351763T>C | CA369653766 | CLCN1 | c.2765T>C (p.Val922Ala) n.2705T>C c.2789T>C (p.Val930Ala) c.1511T>C (p.Val504Ala) c.2339T>C (p.Val780Ala) c.2315T>C (p.Val772Ala) n.2720T>C | |
7 | g.143351763T>G | CA369653767 | CLCN1 | c.2765T>G (p.Val922Gly) n.2705T>G c.2789T>G (p.Val930Gly) c.1511T>G (p.Val504Gly) c.2339T>G (p.Val780Gly) c.2315T>G (p.Val772Gly) n.2720T>G | gnomAD v4 |
7 | g.143351764G>A | CA458542567 | CLCN1 | c.2766G>A (p.Val922=) n.2706G>A c.2790G>A (p.Val930=) c.1512G>A (p.Val504=) c.2340G>A (p.Val780=) c.2316G>A (p.Val772=) n.2721G>A | |
7 | g.143351764G>C | CA458542570 | CLCN1 | c.2766G>C (p.Val922=) n.2706G>C c.2790G>C (p.Val930=) c.1512G>C (p.Val504=) c.2340G>C (p.Val780=) c.2316G>C (p.Val772=) n.2721G>C | |
7 | g.143351764G>T | CA458542571 | CLCN1 | c.2766G>T (p.Val922=) n.2706G>T c.2790G>T (p.Val930=) c.1512G>T (p.Val504=) c.2340G>T (p.Val780=) c.2316G>T (p.Val772=) n.2721G>T | |
7 | g.143351765A>C | CA369653768 | CLCN1 | c.2767A>C (p.Ile923Leu) n.2707A>C c.2791A>C (p.Ile931Leu) c.1513A>C (p.Ile505Leu) c.2341A>C (p.Ile781Leu) c.2317A>C (p.Ile773Leu) n.2722A>C | |
7 | g.143351765A>G | CA369653769 | CLCN1 | c.2767A>G (p.Ile923Val) n.2707A>G c.2791A>G (p.Ile931Val) c.1513A>G (p.Ile505Val) c.2341A>G (p.Ile781Val) c.2317A>G (p.Ile773Val) n.2722A>G | |
7 | g.143351765A>T | CA369653770 | CLCN1 | c.2767A>T (p.Ile923Phe) n.2707A>T c.2791A>T (p.Ile931Phe) c.1513A>T (p.Ile505Phe) c.2341A>T (p.Ile781Phe) c.2317A>T (p.Ile773Phe) n.2722A>T | |
7 | g.143351766T>A | CA369653774 | CLCN1 | c.2768T>A (p.Ile923Asn) n.2708T>A c.2792T>A (p.Ile931Asn) c.1514T>A (p.Ile505Asn) c.2342T>A (p.Ile781Asn) c.2318T>A (p.Ile773Asn) n.2723T>A | |
7 | g.143351766T>C | CA369653773 | CLCN1 | c.2768T>C (p.Ile923Thr) n.2708T>C c.2792T>C (p.Ile931Thr) c.1514T>C (p.Ile505Thr) c.2342T>C (p.Ile781Thr) c.2318T>C (p.Ile773Thr) n.2723T>C | gnomAD v4 |
7 | g.143351766T>G | CA369653772 | CLCN1 | c.2768T>G (p.Ile923Ser) n.2708T>G c.2792T>G (p.Ile931Ser) c.1514T>G (p.Ile505Ser) c.2342T>G (p.Ile781Ser) c.2318T>G (p.Ile773Ser) n.2723T>G | |
7 | g.143351767del | CA2778231040 | CLCN1 | c.2769del (p.Ile923MetfsTer25) n.2709del c.2793del (p.Ile931MetfsTer25) c.1515del (p.Ile505MetfsTer25) c.2343del (p.Ile781MetfsTer25) c.2319del (p.Ile773MetfsTer25) n.2724del | |
7 | g.143351767T>A | CA458542578 | CLCN1 | c.2769T>A (p.Ile923=) n.2709T>A c.2793T>A (p.Ile931=) c.1515T>A (p.Ile505=) c.2343T>A (p.Ile781=) c.2319T>A (p.Ile773=) n.2724T>A | |
7 | g.143351767T>C | CA4537782 | CLCN1 | c.2769T>C (p.Ile923=) n.2709T>C c.2793T>C (p.Ile931=) c.1515T>C (p.Ile505=) c.2343T>C (p.Ile781=) c.2319T>C (p.Ile773=) n.2724T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143351767T>G | CA369653775 | CLCN1 | c.2769T>G (p.Ile923Met) n.2709T>G c.2793T>G (p.Ile931Met) c.1515T>G (p.Ile505Met) c.2343T>G (p.Ile781Met) c.2319T>G (p.Ile773Met) n.2724T>G | |
7 | g.143351767T= | CA1748898319 | CLCN1 | c.2769T= (p.Ile923=) n.2709T= c.2793T= (p.Ile931=) c.1515T= (p.Ile505=) c.2343T= (p.Ile781=) c.2319T= (p.Ile773=) n.2724T= | |
7 | g.143351768G>A | CA369653776 | CLCN1 | c.2770G>A (p.Ala924Thr) n.2710G>A c.2794G>A (p.Ala932Thr) c.1516G>A (p.Ala506Thr) c.2344G>A (p.Ala782Thr) c.2320G>A (p.Ala774Thr) n.2725G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351768G>C | CA369653777 | CLCN1 | c.2770G>C (p.Ala924Pro) n.2710G>C c.2794G>C (p.Ala932Pro) c.1516G>C (p.Ala506Pro) c.2344G>C (p.Ala782Pro) c.2320G>C (p.Ala774Pro) n.2725G>C | |
7 | g.143351768G= | CA1748898320 | CLCN1 | c.2770G= (p.Ala924=) n.2710G= c.2794G= (p.Ala932=) c.1516G= (p.Ala506=) c.2344G= (p.Ala782=) c.2320G= (p.Ala774=) n.2725G= | |
7 | g.143351768G>T | CA369653778 | CLCN1 | c.2770G>T (p.Ala924Ser) n.2710G>T c.2794G>T (p.Ala932Ser) c.1516G>T (p.Ala506Ser) c.2344G>T (p.Ala782Ser) c.2320G>T (p.Ala774Ser) n.2725G>T | |
7 | g.143351769C>A | CA369653779 | CLCN1 | c.2771C>A (p.Ala924Asp) n.2711C>A c.2795C>A (p.Ala932Asp) c.1517C>A (p.Ala506Asp) c.2345C>A (p.Ala782Asp) c.2321C>A (p.Ala774Asp) n.2726C>A | |
7 | g.143351769C>G | CA369653780 | CLCN1 | c.2771C>G (p.Ala924Gly) n.2711C>G c.2795C>G (p.Ala932Gly) c.1517C>G (p.Ala506Gly) c.2345C>G (p.Ala782Gly) c.2321C>G (p.Ala774Gly) n.2726C>G | |
7 | g.143351769C>T | CA369653781 | CLCN1 | c.2771C>T (p.Ala924Val) n.2711C>T c.2795C>T (p.Ala932Val) c.1517C>T (p.Ala506Val) c.2345C>T (p.Ala782Val) c.2321C>T (p.Ala774Val) n.2726C>T | |
7 | g.143351770T>A | CA4537783 | CLCN1 | c.2772T>A (p.Ala924=) n.2712T>A c.2796T>A (p.Ala932=) c.1518T>A (p.Ala506=) c.2346T>A (p.Ala782=) c.2322T>A (p.Ala774=) n.2727T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143351770T>C | CA458542585 | CLCN1 | c.2772T>C (p.Ala924=) n.2712T>C c.2796T>C (p.Ala932=) c.1518T>C (p.Ala506=) c.2346T>C (p.Ala782=) c.2322T>C (p.Ala774=) n.2727T>C | |
7 | g.143351770T>G | CA458542587 | CLCN1 | c.2772T>G (p.Ala924=) n.2712T>G c.2796T>G (p.Ala932=) c.1518T>G (p.Ala506=) c.2346T>G (p.Ala782=) c.2322T>G (p.Ala774=) n.2727T>G | |
7 | g.143351770T= | CA1748898321 | CLCN1 | c.2772T= (p.Ala924=) n.2712T= c.2796T= (p.Ala932=) c.1518T= (p.Ala506=) c.2346T= (p.Ala782=) c.2322T= (p.Ala774=) n.2727T= | |
7 | g.143351771G>A | CA369653782 | CLCN1 | c.2773G>A (p.Ala925Thr) n.2713G>A c.2797G>A (p.Ala933Thr) c.1519G>A (p.Ala507Thr) c.2347G>A (p.Ala783Thr) c.2323G>A (p.Ala775Thr) n.2728G>A | |
7 | g.143351771G>C | CA369653783 | CLCN1 | c.2773G>C (p.Ala925Pro) n.2713G>C c.2797G>C (p.Ala933Pro) c.1519G>C (p.Ala507Pro) c.2347G>C (p.Ala783Pro) c.2323G>C (p.Ala775Pro) n.2728G>C | |
7 | g.143351771G>T | CA369653784 | CLCN1 | c.2773G>T (p.Ala925Ser) n.2713G>T c.2797G>T (p.Ala933Ser) c.1519G>T (p.Ala507Ser) c.2347G>T (p.Ala783Ser) c.2323G>T (p.Ala775Ser) n.2728G>T | |
7 | g.143351772C>A | CA369653787 | CLCN1 | c.2774C>A (p.Ala925Asp) n.2714C>A c.2798C>A (p.Ala933Asp) c.1520C>A (p.Ala507Asp) c.2348C>A (p.Ala783Asp) c.2324C>A (p.Ala775Asp) n.2729C>A | |
7 | g.143351772C>G | CA369653786 | CLCN1 | c.2774C>G (p.Ala925Gly) n.2714C>G c.2798C>G (p.Ala933Gly) c.1520C>G (p.Ala507Gly) c.2348C>G (p.Ala783Gly) c.2324C>G (p.Ala775Gly) n.2729C>G | |
7 | g.143351772C>T | CA369653785 | CLCN1 | c.2774C>T (p.Ala925Val) n.2714C>T c.2798C>T (p.Ala933Val) c.1520C>T (p.Ala507Val) c.2348C>T (p.Ala783Val) c.2324C>T (p.Ala775Val) n.2729C>T | |
7 | g.143351773C>A | CA458542593 | CLCN1 | c.2775C>A (p.Ala925=) n.2715C>A c.2799C>A (p.Ala933=) c.1521C>A (p.Ala507=) c.2349C>A (p.Ala783=) c.2325C>A (p.Ala775=) n.2730C>A | |
7 | g.143351773C= | CA1748898322 | CLCN1 | c.2775C= (p.Ala925=) n.2715C= c.2799C= (p.Ala933=) c.1521C= (p.Ala507=) c.2349C= (p.Ala783=) c.2325C= (p.Ala775=) n.2730C= | |
7 | g.143351773C>G | CA458542591 | CLCN1 | c.2775C>G (p.Ala925=) n.2715C>G c.2799C>G (p.Ala933=) c.1521C>G (p.Ala507=) c.2349C>G (p.Ala783=) c.2325C>G (p.Ala775=) n.2730C>G | |
7 | g.143351773C>T | CA458542592 | CLCN1 | c.2775C>T (p.Ala925=) n.2715C>T c.2799C>T (p.Ala933=) c.1521C>T (p.Ala507=) c.2349C>T (p.Ala783=) c.2325C>T (p.Ala775=) n.2730C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351774T>A | CA369653790 | CLCN1 | c.2776T>A (p.Ser926Thr) n.2716T>A c.2800T>A (p.Ser934Thr) c.1522T>A (p.Ser508Thr) c.2350T>A (p.Ser784Thr) c.2326T>A (p.Ser776Thr) n.2731T>A | |
7 | g.143351774T>C | CA369653788 | CLCN1 | c.2776T>C (p.Ser926Pro) n.2716T>C c.2800T>C (p.Ser934Pro) c.1522T>C (p.Ser508Pro) c.2350T>C (p.Ser784Pro) c.2326T>C (p.Ser776Pro) n.2731T>C | |
7 | g.143351774T>G | CA369653789 | CLCN1 | c.2776T>G (p.Ser926Ala) n.2716T>G c.2800T>G (p.Ser934Ala) c.1522T>G (p.Ser508Ala) c.2350T>G (p.Ser784Ala) c.2326T>G (p.Ser776Ala) n.2731T>G | |
7 | g.143351774T= | CA1748898323 | CLCN1 | c.2776T= (p.Ser926=) n.2716T= c.2800T= (p.Ser934=) c.1522T= (p.Ser508=) c.2350T= (p.Ser784=) c.2326T= (p.Ser776=) n.2731T= | |
7 | g.143351775C>A | CA369653791 | CLCN1 | c.2777C>A (p.Ser926Tyr) n.2717C>A c.2801C>A (p.Ser934Tyr) c.1523C>A (p.Ser508Tyr) c.2351C>A (p.Ser784Tyr) c.2327C>A (p.Ser776Tyr) n.2732C>A | |
7 | g.143351775C>G | CA369653792 | CLCN1 | c.2777C>G (p.Ser926Cys) n.2717C>G c.2801C>G (p.Ser934Cys) c.1523C>G (p.Ser508Cys) c.2351C>G (p.Ser784Cys) c.2327C>G (p.Ser776Cys) n.2732C>G | |
7 | g.143351775C>T | CA369653793 | CLCN1 | c.2777C>T (p.Ser926Phe) n.2717C>T c.2801C>T (p.Ser934Phe) c.1523C>T (p.Ser508Phe) c.2351C>T (p.Ser784Phe) c.2327C>T (p.Ser776Phe) n.2732C>T | |
7 | g.143351778dup | CA1748898324 | CLCN1 | c.2780dup (p.Glu928ArgfsTer?) n.2720dup c.2804dup (p.Glu936ArgfsTer?) c.1526dup (p.Glu510ArgfsTer?) c.2354dup (p.Glu786ArgfsTer?) c.2330dup (p.Glu778ArgfsTer?) n.2735dup | dbSNP |
7 | g.143351776C>A | CA458542596 | CLCN1 | c.2778C>A (p.Ser926=) n.2718C>A c.2802C>A (p.Ser934=) c.1524C>A (p.Ser508=) c.2352C>A (p.Ser784=) c.2328C>A (p.Ser776=) n.2733C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351776C= | CA1748898325 | CLCN1 | c.2778C= (p.Ser926=) n.2718C= c.2802C= (p.Ser934=) c.1524C= (p.Ser508=) c.2352C= (p.Ser784=) c.2328C= (p.Ser776=) n.2733C= | |
7 | g.143351776C>G | CA458542598 | CLCN1 | c.2778C>G (p.Ser926=) n.2718C>G c.2802C>G (p.Ser934=) c.1524C>G (p.Ser508=) c.2352C>G (p.Ser784=) c.2328C>G (p.Ser776=) n.2733C>G | |
7 | g.143351776C>T | CA458542600 | CLCN1 | c.2778C>T (p.Ser926=) n.2718C>T c.2802C>T (p.Ser934=) c.1524C>T (p.Ser508=) c.2352C>T (p.Ser784=) c.2328C>T (p.Ser776=) n.2733C>T | ClinVar gnomAD v4 |
7 | g.143351777C>A | CA369653796 | CLCN1 | c.2779C>A (p.Pro927Thr) n.2719C>A c.2803C>A (p.Pro935Thr) c.1525C>A (p.Pro509Thr) c.2353C>A (p.Pro785Thr) c.2329C>A (p.Pro777Thr) n.2734C>A | |
7 | g.143351777C>G | CA369653795 | CLCN1 | c.2779C>G (p.Pro927Ala) n.2719C>G c.2803C>G (p.Pro935Ala) c.1525C>G (p.Pro509Ala) c.2353C>G (p.Pro785Ala) c.2329C>G (p.Pro777Ala) n.2734C>G | gnomAD v4 |
7 | g.143351777C>T | CA369653794 | CLCN1 | c.2779C>T (p.Pro927Ser) n.2719C>T c.2803C>T (p.Pro935Ser) c.1525C>T (p.Pro509Ser) c.2353C>T (p.Pro785Ser) c.2329C>T (p.Pro777Ser) n.2734C>T | |
7 | g.143351778C>A | CA369653797 | CLCN1 | c.2780C>A (p.Pro927Gln) n.2720C>A c.2804C>A (p.Pro935Gln) c.1526C>A (p.Pro509Gln) c.2354C>A (p.Pro785Gln) c.2330C>A (p.Pro777Gln) n.2735C>A | |
7 | g.143351778C= | CA1748898326 | CLCN1 | c.2780C= (p.Pro927=) n.2720C= c.2804C= (p.Pro935=) c.1526C= (p.Pro509=) c.2354C= (p.Pro785=) c.2330C= (p.Pro777=) n.2735C= | |
7 | g.143351778C>G | CA369653798 | CLCN1 | c.2780C>G (p.Pro927Arg) n.2720C>G c.2804C>G (p.Pro935Arg) c.1526C>G (p.Pro509Arg) c.2354C>G (p.Pro785Arg) c.2330C>G (p.Pro777Arg) n.2735C>G | |
7 | g.143351778C>T | CA369653799 | CLCN1 | c.2780C>T (p.Pro927Leu) n.2720C>T c.2804C>T (p.Pro935Leu) c.1526C>T (p.Pro509Leu) c.2354C>T (p.Pro785Leu) c.2330C>T (p.Pro777Leu) n.2735C>T | dbSNP |
7 | g.143351779A>C | CA458542604 | CLCN1 | c.2781A>C (p.Pro927=) n.2721A>C c.2805A>C (p.Pro935=) c.1527A>C (p.Pro509=) c.2355A>C (p.Pro785=) c.2331A>C (p.Pro777=) n.2736A>C | |
7 | g.143351779A>G | CA458542605 | CLCN1 | c.2781A>G (p.Pro927=) n.2721A>G c.2805A>G (p.Pro935=) c.1527A>G (p.Pro509=) c.2355A>G (p.Pro785=) c.2331A>G (p.Pro777=) n.2736A>G | |
7 | g.143351779A>T | CA458542606 | CLCN1 | c.2781A>T (p.Pro927=) n.2721A>T c.2805A>T (p.Pro935=) c.1527A>T (p.Pro509=) c.2355A>T (p.Pro785=) c.2331A>T (p.Pro777=) n.2736A>T | |
7 | g.143351782_143351783del | CA2740094943 | CLCN1 | c.2784_2785del (p.Glu928AspfsTer?) n.2724_2725del c.2808_2809del (p.Glu936AspfsTer?) c.1530_1531del (p.Glu510AspfsTer?) c.2358_2359del (p.Glu786AspfsTer?) c.2334_2335del (p.Glu778AspfsTer?) n.2739_2740del | ClinVar |
7 | g.143351780G>A | CA369653800 | CLCN1 | c.2782G>A (p.Glu928Lys) n.2722G>A c.2806G>A (p.Glu936Lys) c.1528G>A (p.Glu510Lys) c.2356G>A (p.Glu786Lys) c.2332G>A (p.Glu778Lys) n.2737G>A | ClinVar dbSNP gnomAD v4 |
7 | g.143351780G>C | CA369653801 | CLCN1 | c.2782G>C (p.Glu928Gln) n.2722G>C c.2806G>C (p.Glu936Gln) c.1528G>C (p.Glu510Gln) c.2356G>C (p.Glu786Gln) c.2332G>C (p.Glu778Gln) n.2737G>C | |
7 | g.143351780G= | CA1748898327 | CLCN1 | c.2782G= (p.Glu928=) n.2722G= c.2806G= (p.Glu936=) c.1528G= (p.Glu510=) c.2356G= (p.Glu786=) c.2332G= (p.Glu778=) n.2737G= | |
7 | g.143351780G>T | CA369653802 | CLCN1 | c.2782G>T (p.Glu928Ter) n.2722G>T c.2806G>T (p.Glu936Ter) c.1528G>T (p.Glu510Ter) c.2356G>T (p.Glu786Ter) c.2332G>T (p.Glu778Ter) n.2737G>T | |
7 | g.143351781A>C | CA369653803 | CLCN1 | c.2783A>C (p.Glu928Ala) n.2723A>C c.2807A>C (p.Glu936Ala) c.1529A>C (p.Glu510Ala) c.2357A>C (p.Glu786Ala) c.2333A>C (p.Glu778Ala) n.2738A>C | |
7 | g.143351781A>G | CA369653805 | CLCN1 | c.2783A>G (p.Glu928Gly) n.2723A>G c.2807A>G (p.Glu936Gly) c.1529A>G (p.Glu510Gly) c.2357A>G (p.Glu786Gly) c.2333A>G (p.Glu778Gly) n.2738A>G | |
7 | g.143351781A>T | CA369653804 | CLCN1 | c.2783A>T (p.Glu928Val) n.2723A>T c.2807A>T (p.Glu936Val) c.1529A>T (p.Glu510Val) c.2357A>T (p.Glu786Val) c.2333A>T (p.Glu778Val) n.2738A>T | |
7 | g.143351782G>A | CA458542610 | CLCN1 | c.2784G>A (p.Glu928=) n.2724G>A c.2808G>A (p.Glu936=) c.1530G>A (p.Glu510=) c.2358G>A (p.Glu786=) c.2334G>A (p.Glu778=) n.2739G>A | dbSNP |
7 | g.143351782G>C | CA369653806 | CLCN1 | c.2784G>C (p.Glu928Asp) n.2724G>C c.2808G>C (p.Glu936Asp) c.1530G>C (p.Glu510Asp) c.2358G>C (p.Glu786Asp) c.2334G>C (p.Glu778Asp) n.2739G>C | |
7 | g.143351782G= | CA1748898328 | CLCN1 | c.2784G= (p.Glu928=) n.2724G= c.2808G= (p.Glu936=) c.1530G= (p.Glu510=) c.2358G= (p.Glu786=) c.2334G= (p.Glu778=) n.2739G= | |
7 | g.143351782G>T | CA369653807 | CLCN1 | c.2784G>T (p.Glu928Asp) n.2724G>T c.2808G>T (p.Glu936Asp) c.1530G>T (p.Glu510Asp) c.2358G>T (p.Glu786Asp) c.2334G>T (p.Glu778Asp) n.2739G>T | COSMIC |
7 | g.143351783A= | CA1748898329 | CLCN1 | c.2785A= (p.Thr929=) n.2725A= c.2809A= (p.Thr937=) c.1531A= (p.Thr511=) c.2359A= (p.Thr787=) c.2335A= (p.Thr779=) n.2740A= | |
7 | g.143351783A>C | CA369653808 | CLCN1 | c.2785A>C (p.Thr929Pro) n.2725A>C c.2809A>C (p.Thr937Pro) c.1531A>C (p.Thr511Pro) c.2359A>C (p.Thr787Pro) c.2335A>C (p.Thr779Pro) n.2740A>C | |
7 | g.143351783A>G | CA369653809 | CLCN1 | c.2785A>G (p.Thr929Ala) n.2725A>G c.2809A>G (p.Thr937Ala) c.1531A>G (p.Thr511Ala) c.2359A>G (p.Thr787Ala) c.2335A>G (p.Thr779Ala) n.2740A>G | |
7 | g.143351783A>T | CA4537785 | CLCN1 | c.2785A>T (p.Thr929Ser) n.2725A>T c.2809A>T (p.Thr937Ser) c.1531A>T (p.Thr511Ser) c.2359A>T (p.Thr787Ser) c.2335A>T (p.Thr779Ser) n.2740A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351783_143351784delinsAC | CA1748898330 | CLCN1 | c.2785_2786delinsAC (p.Thr929=) n.2725_2726delinsAC c.2809_2810delinsAC (p.Thr937=) c.1531_1532delinsAC (p.Thr511=) c.2359_2360delinsAC (p.Thr787=) c.2335_2336delinsAC (p.Thr779=) n.2740_2741delinsAC | |
7 | g.143351784C>A | CA369653810 | CLCN1 | c.2786C>A (p.Thr929Asn) n.2726C>A c.2810C>A (p.Thr937Asn) c.1532C>A (p.Thr511Asn) c.2360C>A (p.Thr787Asn) c.2336C>A (p.Thr779Asn) n.2741C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.143351784C= | CA1748898331 | CLCN1 | c.2786C= (p.Thr929=) n.2726C= c.2810C= (p.Thr937=) c.1532C= (p.Thr511=) c.2360C= (p.Thr787=) c.2336C= (p.Thr779=) n.2741C= | |
7 | g.143351784C>G | CA369653811 | CLCN1 | c.2786C>G (p.Thr929Ser) n.2726C>G c.2810C>G (p.Thr937Ser) c.1532C>G (p.Thr511Ser) c.2360C>G (p.Thr787Ser) c.2336C>G (p.Thr779Ser) n.2741C>G | |
7 | g.143351784C>T | CA4537786 | CLCN1 | c.2786C>T (p.Thr929Ile) n.2726C>T c.2810C>T (p.Thr937Ile) c.1532C>T (p.Thr511Ile) c.2360C>T (p.Thr787Ile) c.2336C>T (p.Thr779Ile) n.2741C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351787del | CA4537784 | CLCN1 | c.2789del (p.Pro930LeufsTer18) n.2729del c.2813del (p.Pro938LeufsTer18) c.1535del (p.Pro512LeufsTer18) c.2363del (p.Pro788LeufsTer18) c.2339del (p.Pro780LeufsTer18) n.2744del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351785C>A | CA458542617 | CLCN1 | c.2787C>A (p.Thr929=) n.2727C>A c.2811C>A (p.Thr937=) c.1533C>A (p.Thr511=) c.2361C>A (p.Thr787=) c.2337C>A (p.Thr779=) n.2742C>A | |
7 | g.143351785C= | CA1748898332 | CLCN1 | c.2787C= (p.Thr929=) n.2727C= c.2811C= (p.Thr937=) c.1533C= (p.Thr511=) c.2361C= (p.Thr787=) c.2337C= (p.Thr779=) n.2742C= | |
7 | g.143351785C>G | CA458542618 | CLCN1 | c.2787C>G (p.Thr929=) n.2727C>G c.2811C>G (p.Thr937=) c.1533C>G (p.Thr511=) c.2361C>G (p.Thr787=) c.2337C>G (p.Thr779=) n.2742C>G | gnomAD v4 |
7 | g.143351785C>T | CA458542620 | CLCN1 | c.2787C>T (p.Thr929=) n.2727C>T c.2811C>T (p.Thr937=) c.1533C>T (p.Thr511=) c.2361C>T (p.Thr787=) c.2337C>T (p.Thr779=) n.2742C>T | dbSNP gnomAD v4 |
7 | g.143351786C>A | CA369653812 | CLCN1 | c.2788C>A (p.Pro930Thr) n.2728C>A c.2812C>A (p.Pro938Thr) c.1534C>A (p.Pro512Thr) c.2362C>A (p.Pro788Thr) c.2338C>A (p.Pro780Thr) n.2743C>A | |
7 | g.143351786C>G | CA369653813 | CLCN1 | c.2788C>G (p.Pro930Ala) n.2728C>G c.2812C>G (p.Pro938Ala) c.1534C>G (p.Pro512Ala) c.2362C>G (p.Pro788Ala) c.2338C>G (p.Pro780Ala) n.2743C>G | |
7 | g.143351786C>T | CA369653814 | CLCN1 | c.2788C>T (p.Pro930Ser) n.2728C>T c.2812C>T (p.Pro938Ser) c.1534C>T (p.Pro512Ser) c.2362C>T (p.Pro788Ser) c.2338C>T (p.Pro780Ser) n.2743C>T | |
7 | g.143351787C>A | CA4537787 | CLCN1 | c.2789C>A (p.Pro930His) n.2729C>A c.2813C>A (p.Pro938His) c.1535C>A (p.Pro512His) c.2363C>A (p.Pro788His) c.2339C>A (p.Pro780His) n.2744C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351787C= | CA1748898333 | CLCN1 | c.2789C= (p.Pro930=) n.2729C= c.2813C= (p.Pro938=) c.1535C= (p.Pro512=) c.2363C= (p.Pro788=) c.2339C= (p.Pro780=) n.2744C= | |
7 | g.143351787C>G | CA369653816 | CLCN1 | c.2789C>G (p.Pro930Arg) n.2729C>G c.2813C>G (p.Pro938Arg) c.1535C>G (p.Pro512Arg) c.2363C>G (p.Pro788Arg) c.2339C>G (p.Pro780Arg) n.2744C>G | |
7 | g.143351787C>T | CA369653815 | CLCN1 | c.2789C>T (p.Pro930Leu) n.2729C>T c.2813C>T (p.Pro938Leu) c.1535C>T (p.Pro512Leu) c.2363C>T (p.Pro788Leu) c.2339C>T (p.Pro780Leu) n.2744C>T | |
7 | g.143351788T>A | CA458542630 | CLCN1 | c.2790T>A (p.Pro930=) n.2730T>A c.2814T>A (p.Pro938=) c.1536T>A (p.Pro512=) c.2364T>A (p.Pro788=) c.2340T>A (p.Pro780=) n.2745T>A | |
7 | g.143351788T>C | CA458542629 | CLCN1 | c.2790T>C (p.Pro930=) n.2730T>C c.2814T>C (p.Pro938=) c.1536T>C (p.Pro512=) c.2364T>C (p.Pro788=) c.2340T>C (p.Pro780=) n.2745T>C | |
7 | g.143351788T>G | CA458542627 | CLCN1 | c.2790T>G (p.Pro930=) n.2730T>G c.2814T>G (p.Pro938=) c.1536T>G (p.Pro512=) c.2364T>G (p.Pro788=) c.2340T>G (p.Pro780=) n.2745T>G | |
7 | g.143351789G>A | CA369653817 | CLCN1 | c.2791G>A (p.Val931Met) n.2731G>A c.2815G>A (p.Val939Met) c.1537G>A (p.Val513Met) c.2365G>A (p.Val789Met) c.2341G>A (p.Val781Met) n.2746G>A | gnomAD v4 |
7 | g.143351789G>C | CA369653819 | CLCN1 | c.2791G>C (p.Val931Leu) n.2731G>C c.2815G>C (p.Val939Leu) c.1537G>C (p.Val513Leu) c.2365G>C (p.Val789Leu) c.2341G>C (p.Val781Leu) n.2746G>C | |
7 | g.143351789G>T | CA369653818 | CLCN1 | c.2791G>T (p.Val931Leu) n.2731G>T c.2815G>T (p.Val939Leu) c.1537G>T (p.Val513Leu) c.2365G>T (p.Val789Leu) c.2341G>T (p.Val781Leu) n.2746G>T | |
7 | g.143351790T>A | CA369653820 | CLCN1 | c.2792T>A (p.Val931Glu) n.2732T>A c.2816T>A (p.Val939Glu) c.1538T>A (p.Val513Glu) c.2366T>A (p.Val789Glu) c.2342T>A (p.Val781Glu) n.2747T>A | |
7 | g.143351790T>C | CA369653821 | CLCN1 | c.2792T>C (p.Val931Ala) n.2732T>C c.2816T>C (p.Val939Ala) c.1538T>C (p.Val513Ala) c.2366T>C (p.Val789Ala) c.2342T>C (p.Val781Ala) n.2747T>C | |
7 | g.143351790T>G | CA369653822 | CLCN1 | c.2792T>G (p.Val931Gly) n.2732T>G c.2816T>G (p.Val939Gly) c.1538T>G (p.Val513Gly) c.2366T>G (p.Val789Gly) c.2342T>G (p.Val781Gly) n.2747T>G | |
7 | g.143351791G>A | CA458542636 | CLCN1 | c.2793G>A (p.Val931=) n.2733G>A c.2817G>A (p.Val939=) c.1539G>A (p.Val513=) c.2367G>A (p.Val789=) c.2343G>A (p.Val781=) n.2748G>A | gnomAD v4 |
7 | g.143351791G>C | CA458542638 | CLCN1 | c.2793G>C (p.Val931=) n.2733G>C c.2817G>C (p.Val939=) c.1539G>C (p.Val513=) c.2367G>C (p.Val789=) c.2343G>C (p.Val781=) n.2748G>C | |
7 | g.143351791G>T | CA458542639 | CLCN1 | c.2793G>T (p.Val931=) n.2733G>T c.2817G>T (p.Val939=) c.1539G>T (p.Val513=) c.2367G>T (p.Val789=) c.2343G>T (p.Val781=) n.2748G>T | |
7 | g.143351792C>A | CA369653823 | CLCN1 | c.2794C>A (p.Pro932Thr) n.2734C>A c.2818C>A (p.Pro940Thr) c.1540C>A (p.Pro514Thr) c.2368C>A (p.Pro790Thr) c.2344C>A (p.Pro782Thr) n.2749C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.143351792C= | CA1748898334 | CLCN1 | c.2794C= (p.Pro932=) n.2734C= c.2818C= (p.Pro940=) c.1540C= (p.Pro514=) c.2368C= (p.Pro790=) c.2344C= (p.Pro782=) n.2749C= | |
7 | g.143351792C>G | CA369653824 | CLCN1 | c.2794C>G (p.Pro932Ala) n.2734C>G c.2818C>G (p.Pro940Ala) c.1540C>G (p.Pro514Ala) c.2368C>G (p.Pro790Ala) c.2344C>G (p.Pro782Ala) n.2749C>G | |
7 | g.143351792C>T | CA4537788 | CLCN1 | c.2794C>T (p.Pro932Ser) n.2734C>T c.2818C>T (p.Pro940Ser) c.1540C>T (p.Pro514Ser) c.2368C>T (p.Pro790Ser) c.2344C>T (p.Pro782Ser) n.2749C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143351793C>A | CA369653825 | CLCN1 | c.2795C>A (p.Pro932Gln) n.2735C>A c.2819C>A (p.Pro940Gln) c.1541C>A (p.Pro514Gln) c.2369C>A (p.Pro790Gln) c.2345C>A (p.Pro782Gln) n.2750C>A | |
7 | g.143351793C= | CA1748898335 | CLCN1 | c.2795C= (p.Pro932=) n.2735C= c.2819C= (p.Pro940=) c.1541C= (p.Pro514=) c.2369C= (p.Pro790=) c.2345C= (p.Pro782=) n.2750C= | |
7 | g.143351793C>G | CA369653826 | CLCN1 | c.2795C>G (p.Pro932Arg) n.2735C>G c.2819C>G (p.Pro940Arg) c.1541C>G (p.Pro514Arg) c.2369C>G (p.Pro790Arg) c.2345C>G (p.Pro782Arg) n.2750C>G | |
7 | g.143351793C>T | CA258014 | CLCN1 | c.2795C>T (p.Pro932Leu) n.2735C>T c.2819C>T (p.Pro940Leu) c.1541C>T (p.Pro514Leu) c.2369C>T (p.Pro790Leu) c.2345C>T (p.Pro782Leu) n.2750C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.143351794_143351795insCACCACCAAACACACCCAACACA | CA2778231041 | CLCN1 | c.2796_2797insCACCACCAAACACACCCAACACA (p.Ser933HisfsTer23) n.2736_2737insCACCACCAAACACACCCAACACA c.2820_2821insCACCACCAAACACACCCAACACA (p.Ser941HisfsTer23) c.1542_1543insCACCACCAAACACACCCAACACA (p.Ser515HisfsTer23) c.2370_2371insCACCACCAAACACACCCAACACA (p.Ser791HisfsTer23) c.2346_2347insCACCACCAAACACACCCAACACA (p.Ser783HisfsTer23) n.2751_2752insCACCACCAAACACACCCAACACA | |
7 | g.143351794A= | CA1748898336 | CLCN1 | c.2796A= (p.Pro932=) n.2736A= c.2820A= (p.Pro940=) c.1542A= (p.Pro514=) c.2370A= (p.Pro790=) c.2346A= (p.Pro782=) n.2751A= | |
7 | g.143351794A>C | CA168231632 | CLCN1 | c.2796A>C (p.Pro932=) n.2736A>C c.2820A>C (p.Pro940=) c.1542A>C (p.Pro514=) c.2370A>C (p.Pro790=) c.2346A>C (p.Pro782=) n.2751A>C | ClinVar dbSNP |
7 | g.143351794A>G | CA458542336 | CLCN1 | c.2796A>G (p.Pro932=) n.2736A>G c.2820A>G (p.Pro940=) c.1542A>G (p.Pro514=) c.2370A>G (p.Pro790=) c.2346A>G (p.Pro782=) n.2751A>G | |
7 | g.143351794A>T | CA458542337 | CLCN1 | c.2796A>T (p.Pro932=) n.2736A>T c.2820A>T (p.Pro940=) c.1542A>T (p.Pro514=) c.2370A>T (p.Pro790=) c.2346A>T (p.Pro782=) n.2751A>T | |
7 | g.143351795T>A | CA369653827 | CLCN1 | c.2797T>A (p.Ser933Thr) n.2737T>A c.2821T>A (p.Ser941Thr) c.1543T>A (p.Ser515Thr) c.2371T>A (p.Ser791Thr) c.2347T>A (p.Ser783Thr) n.2752T>A | |
7 | g.143351795T>C | CA369653828 | CLCN1 | c.2797T>C (p.Ser933Pro) n.2737T>C c.2821T>C (p.Ser941Pro) c.1543T>C (p.Ser515Pro) c.2371T>C (p.Ser791Pro) c.2347T>C (p.Ser783Pro) n.2752T>C | |
7 | g.143351795T>G | CA369653829 | CLCN1 | c.2797T>G (p.Ser933Ala) n.2737T>G c.2821T>G (p.Ser941Ala) c.1543T>G (p.Ser515Ala) c.2371T>G (p.Ser791Ala) c.2347T>G (p.Ser783Ala) n.2752T>G | |
7 | g.143351796C>A | CA369653830 | CLCN1 | c.2798C>A (p.Ser933Tyr) n.2738C>A c.2822C>A (p.Ser941Tyr) c.1544C>A (p.Ser515Tyr) c.2372C>A (p.Ser791Tyr) c.2348C>A (p.Ser783Tyr) n.2753C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.143351796C= | CA1748898337 | CLCN1 | c.2798C= (p.Ser933=) n.2738C= c.2822C= (p.Ser941=) c.1544C= (p.Ser515=) c.2372C= (p.Ser791=) c.2348C= (p.Ser783=) n.2753C= | |
7 | g.143351796C>G | CA369653832 | CLCN1 | c.2798C>G (p.Ser933Cys) n.2738C>G c.2822C>G (p.Ser941Cys) c.1544C>G (p.Ser515Cys) c.2372C>G (p.Ser791Cys) c.2348C>G (p.Ser783Cys) n.2753C>G | gnomAD v4 |
7 | g.143351796C>T | CA369653831 | CLCN1 | c.2798C>T (p.Ser933Phe) n.2738C>T c.2822C>T (p.Ser941Phe) c.1544C>T (p.Ser515Phe) c.2372C>T (p.Ser791Phe) c.2348C>T (p.Ser783Phe) n.2753C>T | gnomAD v4 |
7 | g.143351797T>A | CA458542339 | CLCN1 | c.2799T>A (p.Ser933=) n.2739T>A c.2823T>A (p.Ser941=) c.1545T>A (p.Ser515=) c.2373T>A (p.Ser791=) c.2349T>A (p.Ser783=) n.2754T>A | |
7 | g.143351797T>C | CA458542340 | CLCN1 | c.2799T>C (p.Ser933=) n.2739T>C c.2823T>C (p.Ser941=) c.1545T>C (p.Ser515=) c.2373T>C (p.Ser791=) c.2349T>C (p.Ser783=) n.2754T>C | |
7 | g.143351797T>G | CA458542341 | CLCN1 | c.2799T>G (p.Ser933=) n.2739T>G c.2823T>G (p.Ser941=) c.1545T>G (p.Ser515=) c.2373T>G (p.Ser791=) c.2349T>G (p.Ser783=) n.2754T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351797T= | CA1748898338 | CLCN1 | c.2799T= (p.Ser933=) n.2739T= c.2823T= (p.Ser941=) c.1545T= (p.Ser515=) c.2373T= (p.Ser791=) c.2349T= (p.Ser783=) n.2754T= | |
7 | g.143351798C>A | CA369653833 | CLCN1 | c.2800C>A (p.Pro934Thr) n.2740C>A c.2824C>A (p.Pro942Thr) c.1546C>A (p.Pro516Thr) c.2374C>A (p.Pro792Thr) c.2350C>A (p.Pro784Thr) n.2755C>A | |
7 | g.143351798C= | CA1748898339 | CLCN1 | c.2800C= (p.Pro934=) n.2740C= c.2824C= (p.Pro942=) c.1546C= (p.Pro516=) c.2374C= (p.Pro792=) c.2350C= (p.Pro784=) n.2755C= | |
7 | g.143351798C>G | CA369653834 | CLCN1 | c.2800C>G (p.Pro934Ala) n.2740C>G c.2824C>G (p.Pro942Ala) c.1546C>G (p.Pro516Ala) c.2374C>G (p.Pro792Ala) c.2350C>G (p.Pro784Ala) n.2755C>G | |
7 | g.143351798C>T | CA369653835 | CLCN1 | c.2800C>T (p.Pro934Ser) n.2740C>T c.2824C>T (p.Pro942Ser) c.1546C>T (p.Pro516Ser) c.2374C>T (p.Pro792Ser) c.2350C>T (p.Pro784Ser) n.2755C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.143351799C>A | CA369653836 | CLCN1 | c.2801C>A (p.Pro934His) n.2741C>A c.2825C>A (p.Pro942His) c.1547C>A (p.Pro516His) c.2375C>A (p.Pro792His) c.2351C>A (p.Pro784His) n.2756C>A | |
7 | g.143351799C>G | CA369653837 | CLCN1 | c.2801C>G (p.Pro934Arg) n.2741C>G c.2825C>G (p.Pro942Arg) c.1547C>G (p.Pro516Arg) c.2375C>G (p.Pro792Arg) c.2351C>G (p.Pro784Arg) n.2756C>G | |
7 | g.143351799C>T | CA369653838 | CLCN1 | c.2801C>T (p.Pro934Leu) n.2741C>T c.2825C>T (p.Pro942Leu) c.1547C>T (p.Pro516Leu) c.2375C>T (p.Pro792Leu) c.2351C>T (p.Pro784Leu) n.2756C>T | |
7 | g.143351800T>A | CA458542345 | CLCN1 | c.2802T>A (p.Pro934=) n.2742T>A c.2826T>A (p.Pro942=) c.1548T>A (p.Pro516=) c.2376T>A (p.Pro792=) c.2352T>A (p.Pro784=) n.2757T>A | |
7 | g.143351800T>C | CA458542346 | CLCN1 | c.2802T>C (p.Pro934=) n.2742T>C c.2826T>C (p.Pro942=) c.1548T>C (p.Pro516=) c.2376T>C (p.Pro792=) c.2352T>C (p.Pro784=) n.2757T>C | |
7 | g.143351800T>G | CA458542347 | CLCN1 | c.2802T>G (p.Pro934=) n.2742T>G c.2826T>G (p.Pro942=) c.1548T>G (p.Pro516=) c.2376T>G (p.Pro792=) c.2352T>G (p.Pro784=) n.2757T>G | dbSNP |
7 | g.143351801T>A | CA369653839 | CLCN1 | c.2803T>A (p.Ser935Thr) n.2743T>A c.2827T>A (p.Ser943Thr) c.1549T>A (p.Ser517Thr) c.2377T>A (p.Ser793Thr) c.2353T>A (p.Ser785Thr) n.2758T>A | |
7 | g.143351801T>C | CA369653840 | CLCN1 | c.2803T>C (p.Ser935Pro) n.2743T>C c.2827T>C (p.Ser943Pro) c.1549T>C (p.Ser517Pro) c.2377T>C (p.Ser793Pro) c.2353T>C (p.Ser785Pro) n.2758T>C | ClinVar dbSNP |
7 | g.143351801T>G | CA369653841 | CLCN1 | c.2803T>G (p.Ser935Ala) n.2743T>G c.2827T>G (p.Ser943Ala) c.1549T>G (p.Ser517Ala) c.2377T>G (p.Ser793Ala) c.2353T>G (p.Ser785Ala) n.2758T>G | |
7 | g.143351801T= | CA1748898340 | CLCN1 | c.2803T= (p.Ser935=) n.2743T= c.2827T= (p.Ser943=) c.1549T= (p.Ser517=) c.2377T= (p.Ser793=) c.2353T= (p.Ser785=) n.2758T= | |
7 | g.143351802C>A | CA369653843 | CLCN1 | c.2804C>A (p.Ser935Tyr) n.2744C>A c.2828C>A (p.Ser943Tyr) c.1550C>A (p.Ser517Tyr) c.2378C>A (p.Ser793Tyr) c.2354C>A (p.Ser785Tyr) n.2759C>A | |
7 | g.143351802C>G | CA369653844 | CLCN1 | c.2804C>G (p.Ser935Cys) n.2744C>G c.2828C>G (p.Ser943Cys) c.1550C>G (p.Ser517Cys) c.2378C>G (p.Ser793Cys) c.2354C>G (p.Ser785Cys) n.2759C>G | |
7 | g.143351802C>T | CA369653842 | CLCN1 | c.2804C>T (p.Ser935Phe) n.2744C>T c.2828C>T (p.Ser943Phe) c.1550C>T (p.Ser517Phe) c.2378C>T (p.Ser793Phe) c.2354C>T (p.Ser785Phe) n.2759C>T | |
7 | g.143351803C>A | CA458542353 | CLCN1 | c.2805C>A (p.Ser935=) n.2745C>A c.2829C>A (p.Ser943=) c.1551C>A (p.Ser517=) c.2379C>A (p.Ser793=) c.2355C>A (p.Ser785=) n.2760C>A | |
7 | g.143351803C>G | CA458542352 | CLCN1 | c.2805C>G (p.Ser935=) n.2745C>G c.2829C>G (p.Ser943=) c.1551C>G (p.Ser517=) c.2379C>G (p.Ser793=) c.2355C>G (p.Ser785=) n.2760C>G | |
7 | g.143351803C>T | CA458542351 | CLCN1 | c.2805C>T (p.Ser935=) n.2745C>T c.2829C>T (p.Ser943=) c.1551C>T (p.Ser517=) c.2379C>T (p.Ser793=) c.2355C>T (p.Ser785=) n.2760C>T | ClinVar dbSNP COSMIC |
7 | g.143351804C>A | CA369653845 | CLCN1 | c.2806C>A (p.Pro936Thr) n.2746C>A c.2830C>A (p.Pro944Thr) c.1552C>A (p.Pro518Thr) c.2380C>A (p.Pro794Thr) c.2356C>A (p.Pro786Thr) n.2761C>A | gnomAD v4 |
7 | g.143351804C>G | CA369653846 | CLCN1 | c.2806C>G (p.Pro936Ala) n.2746C>G c.2830C>G (p.Pro944Ala) c.1552C>G (p.Pro518Ala) c.2380C>G (p.Pro794Ala) c.2356C>G (p.Pro786Ala) n.2761C>G | |
7 | g.143351804C>T | CA369653847 | CLCN1 | c.2806C>T (p.Pro936Ser) n.2746C>T c.2830C>T (p.Pro944Ser) c.1552C>T (p.Pro518Ser) c.2380C>T (p.Pro794Ser) c.2356C>T (p.Pro786Ser) n.2761C>T | dbSNP |
7 | g.143351805C>A | CA369653848 | CLCN1 | c.2807C>A (p.Pro936Gln) n.2747C>A c.2831C>A (p.Pro944Gln) c.1553C>A (p.Pro518Gln) c.2381C>A (p.Pro794Gln) c.2357C>A (p.Pro786Gln) n.2762C>A | |
7 | g.143351805C= | CA1748898341 | CLCN1 | c.2807C= (p.Pro936=) n.2747C= c.2831C= (p.Pro944=) c.1553C= (p.Pro518=) c.2381C= (p.Pro794=) c.2357C= (p.Pro786=) n.2762C= | |
7 | g.143351805C>G | CA369653849 | CLCN1 | c.2807C>G (p.Pro936Arg) n.2747C>G c.2831C>G (p.Pro944Arg) c.1553C>G (p.Pro518Arg) c.2381C>G (p.Pro794Arg) c.2357C>G (p.Pro786Arg) n.2762C>G | |
7 | g.143351805C>T | CA4537789 | CLCN1 | c.2807C>T (p.Pro936Leu) n.2747C>T c.2831C>T (p.Pro944Leu) c.1553C>T (p.Pro518Leu) c.2381C>T (p.Pro794Leu) c.2357C>T (p.Pro786Leu) n.2762C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143351806A>C | CA458542357 | CLCN1 | c.2808A>C (p.Pro936=) n.2748A>C c.2832A>C (p.Pro944=) c.1554A>C (p.Pro518=) c.2382A>C (p.Pro794=) c.2358A>C (p.Pro786=) n.2763A>C | |
7 | g.143351806A>G | CA458542358 | CLCN1 | c.2808A>G (p.Pro936=) n.2748A>G c.2832A>G (p.Pro944=) c.1554A>G (p.Pro518=) c.2382A>G (p.Pro794=) c.2358A>G (p.Pro786=) n.2763A>G | |
7 | g.143351806A>T | CA458542359 | CLCN1 | c.2808A>T (p.Pro936=) n.2748A>T c.2832A>T (p.Pro944=) c.1554A>T (p.Pro518=) c.2382A>T (p.Pro794=) c.2358A>T (p.Pro786=) n.2763A>T | |
7 | g.143351807G>A | CA369653852 | CLCN1 | c.2809G>A (p.Glu937Lys) n.2749G>A c.2833G>A (p.Glu945Lys) c.1555G>A (p.Glu519Lys) c.2383G>A (p.Glu795Lys) c.2359G>A (p.Glu787Lys) n.2764G>A | |
7 | g.143351807G>C | CA369653850 | CLCN1 | c.2809G>C (p.Glu937Gln) n.2749G>C c.2833G>C (p.Glu945Gln) c.1555G>C (p.Glu519Gln) c.2383G>C (p.Glu795Gln) c.2359G>C (p.Glu787Gln) n.2764G>C | gnomAD v4 |
7 | g.143351807G>T | CA369653851 | CLCN1 | c.2809G>T (p.Glu937Ter) n.2749G>T c.2833G>T (p.Glu945Ter) c.1555G>T (p.Glu519Ter) c.2383G>T (p.Glu795Ter) c.2359G>T (p.Glu787Ter) n.2764G>T | |
7 | g.143351808A>C | CA369653853 | CLCN1 | c.2810A>C (p.Glu937Ala) n.2750A>C c.2834A>C (p.Glu945Ala) c.1556A>C (p.Glu519Ala) c.2384A>C (p.Glu795Ala) c.2360A>C (p.Glu787Ala) n.2765A>C | |
7 | g.143351808A>G | CA369653854 | CLCN1 | c.2810A>G (p.Glu937Gly) n.2750A>G c.2834A>G (p.Glu945Gly) c.1556A>G (p.Glu519Gly) c.2384A>G (p.Glu795Gly) c.2360A>G (p.Glu787Gly) n.2765A>G | |
7 | g.143351808A>T | CA369653855 | CLCN1 | c.2810A>T (p.Glu937Val) n.2750A>T c.2834A>T (p.Glu945Val) c.1556A>T (p.Glu519Val) c.2384A>T (p.Glu795Val) c.2360A>T (p.Glu787Val) n.2765A>T | |
7 | g.143351809G>A | CA458542367 | CLCN1 | c.2811G>A (p.Glu937=) n.2751G>A c.2835G>A (p.Glu945=) c.1557G>A (p.Glu519=) c.2385G>A (p.Glu795=) c.2361G>A (p.Glu787=) n.2766G>A | gnomAD v4 |
7 | g.143351809G>C | CA369653856 | CLCN1 | c.2811G>C (p.Glu937Asp) n.2751G>C c.2835G>C (p.Glu945Asp) c.1557G>C (p.Glu519Asp) c.2385G>C (p.Glu795Asp) c.2361G>C (p.Glu787Asp) n.2766G>C | gnomAD v4 |
7 | g.143351809G>T | CA369653857 | CLCN1 | c.2811G>T (p.Glu937Asp) n.2751G>T c.2835G>T (p.Glu945Asp) c.1557G>T (p.Glu519Asp) c.2385G>T (p.Glu795Asp) c.2361G>T (p.Glu787Asp) n.2766G>T | ClinVar gnomAD v4 |
7 | g.143351809_143351810delinsGC | CA1748898342 | CLCN1 | c.2811_2812delinsGC (p.Glu937=) n.2751_2752delinsGC c.2835_2836delinsGC (p.Glu945=) c.1557_1558delinsGC (p.Glu519=) c.2385_2386delinsGC (p.Glu795=) c.2361_2362delinsGC (p.Glu787=) n.2766_2767delinsGC | |
7 | g.143351810C>A | CA369653858 | CLCN1 | c.2812C>A (p.Pro938Thr) n.2752C>A c.2836C>A (p.Pro946Thr) c.1558C>A (p.Pro520Thr) c.2386C>A (p.Pro796Thr) c.2362C>A (p.Pro788Thr) n.2767C>A | |
7 | g.143351810C= | CA1748898343 | CLCN1 | c.2812C= (p.Pro938=) n.2752C= c.2836C= (p.Pro946=) c.1558C= (p.Pro520=) c.2386C= (p.Pro796=) c.2362C= (p.Pro788=) n.2767C= | |
7 | g.143351810C>G | CA369653860 | CLCN1 | c.2812C>G (p.Pro938Ala) n.2752C>G c.2836C>G (p.Pro946Ala) c.1558C>G (p.Pro520Ala) c.2386C>G (p.Pro796Ala) c.2362C>G (p.Pro788Ala) n.2767C>G | gnomAD v4 |
7 | g.143351810C>T | CA369653859 | CLCN1 | c.2812C>T (p.Pro938Ser) n.2752C>T c.2836C>T (p.Pro946Ser) c.1558C>T (p.Pro520Ser) c.2386C>T (p.Pro796Ser) c.2362C>T (p.Pro788Ser) n.2767C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351814del | CA458542368 | CLCN1 | c.2816del (p.Pro939LeufsTer9) n.2756del c.2840del (p.Pro947LeufsTer9) c.1562del (p.Pro521LeufsTer9) c.2390del (p.Pro797LeufsTer9) c.2366del (p.Pro789LeufsTer9) n.2771del | dbSNP |