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| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 7 | g.143351966C>A | CA2685383355 | CLCN1 | c.*1C>A (n.*1C>A) n.2908C>A n.2923C>A | gnomAD v4 |
| 7 | g.143351966C= | CA1748898418 | CLCN1 | c.*1C= (n.*1C=) n.2908C= n.2923C= | |
| 7 | g.143351966C>G | CA578626912 | CLCN1 | c.*1C>G (n.*1C>G) n.2908C>G n.2923C>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143351966C>T | CA1748898419 | CLCN1 | c.*1C>T (n.*1C>T) n.2908C>T n.2923C>T | dbSNP gnomAD v4 |
| 7 | g.143351970dup | CA578626911 | CLCN1 | c.*5dup (n.*5dup) n.2912dup n.2927dup | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143351967C= | CA1748898420 | CLCN1 | c.*2C= (n.*2C=) n.2909C= n.2924C= | |
| 7 | g.143351967C>T | CA4537821 | CLCN1 | c.*2C>T (n.*2C>T) n.2909C>T n.2924C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351969C>A | CA2685383362 | CLCN1 | c.*4C>A (n.*4C>A) n.2911C>A n.2926C>A | gnomAD v4 |
| 7 | g.143351969C= | CA1748898421 | CLCN1 | c.*4C= (n.*4C=) n.2911C= n.2926C= | |
| 7 | g.143351969C>G | CA578626913 | CLCN1 | c.*4C>G (n.*4C>G) n.2911C>G n.2926C>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143351972C>A | CA2778231042 | CLCN1 | c.*7C>A (n.*7C>A) n.2914C>A n.2929C>A | |
| 7 | g.143351972C= | CA1748898422 | CLCN1 | c.*7C= (n.*7C=) n.2914C= n.2929C= | |
| 7 | g.143351972C>G | CA578626914 | CLCN1 | c.*7C>G (n.*7C>G) n.2914C>G n.2929C>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143351973C= | CA1748898423 | CLCN1 | c.*8C= (n.*8C=) n.2915C= n.2930C= | |
| 7 | g.143351973C>T | CA4537822 | CLCN1 | c.*8C>T (n.*8C>T) n.2915C>T n.2930C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143351974C>A | CA2579051081 | CLCN1 | c.*9C>A (n.*9C>A) n.2916C>A n.2931C>A | |
| 7 | g.143351975A= | CA1748898424 | CLCN1 | c.*10A= (n.*10A=) n.2917A= n.2932A= | |
| 7 | g.143351975A>G | CA578626915 | CLCN1 | c.*10A>G (n.*10A>G) n.2917A>G n.2932A>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143351976C= | CA1748898425 | CLCN1 | c.*11C= (n.*11C=) n.2918C= n.2933C= | |
| 7 | g.143351976C>T | CA4537823 | CLCN1 | c.*11C>T (n.*11C>T) n.2918C>T n.2933C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351977G>A | CA168231845 | CLCN1 | c.*12G>A (n.*12G>A) n.2919G>A n.2934G>A | dbSNP gnomAD v4 |
| 7 | g.143351977G= | CA1748898426 | CLCN1 | c.*12G= (n.*12G=) n.2919G= n.2934G= | |
| 7 | g.143351980C>A | CA4537824 | CLCN1 | c.*15C>A (n.*15C>A) n.2922C>A n.2937C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351980C= | CA1748898427 | CLCN1 | c.*15C= (n.*15C=) n.2922C= n.2937C= | |
| 7 | g.143351980C>T | CA4537825 | CLCN1 | c.*15C>T (n.*15C>T) n.2922C>T n.2937C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143351982C= | CA1748898428 | CLCN1 | c.*17C= (n.*17C=) n.2924C= n.2939C= | |
| 7 | g.143351982C>G | CA4537826 | CLCN1 | c.*17C>G (n.*17C>G) n.2924C>G n.2939C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351982C>T | CA1748898429 | CLCN1 | c.*17C>T (n.*17C>T) n.2924C>T n.2939C>T | dbSNP |
| 7 | g.143351983C= | CA1748898430 | CLCN1 | c.*18C= (n.*18C=) n.2925C= n.2940C= | |
| 7 | g.143351983C>T | CA4537827 | CLCN1 | c.*18C>T (n.*18C>T) n.2925C>T n.2940C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143351985C= | CA1748898431 | CLCN1 | c.*20C= (n.*20C=) n.2927C= n.2942C= | |
| 7 | g.143351985C>G | CA4537828 | CLCN1 | c.*20C>G (n.*20C>G) n.2927C>G n.2942C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143351985C>T | CA2685383408 | CLCN1 | c.*20C>T (n.*20C>T) n.2927C>T n.2942C>T | gnomAD v4 |
| 7 | g.143351987T>A | CA4537829 | CLCN1 | c.*22T>A (n.*22T>A) n.2929T>A n.2944T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351987T= | CA1748898432 | CLCN1 | c.*22T= (n.*22T=) n.2929T= n.2944T= | |
| 7 | g.143351988A= | CA1748898433 | CLCN1 | c.*23A= (n.*23A=) n.2930A= n.2945A= | |
| 7 | g.143351988A>G | CA4537830 | CLCN1 | c.*23A>G (n.*23A>G) n.2930A>G n.2945A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351993C= | CA1748898434 | CLCN1 | c.*28C= (n.*28C=) n.2935C= n.2950C= | |
| 7 | g.143351993C>T | CA578626916 | CLCN1 | c.*28C>T (n.*28C>T) n.2935C>T n.2950C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143351994C>A | CA4537831 | CLCN1 | c.*29C>A (n.*29C>A) n.2936C>A n.2951C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351994C= | CA1748898435 | CLCN1 | c.*29C= (n.*29C=) n.2936C= n.2951C= | |
| 7 | g.143351994C>T | CA4537832 | CLCN1 | c.*29C>T (n.*29C>T) n.2936C>T n.2951C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351995G>A | CA4537833 | CLCN1 | c.*30G>A (n.*30G>A) n.2937G>A n.2952G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351995G= | CA1748898436 | CLCN1 | c.*30G= (n.*30G=) n.2937G= n.2952G= | |
| 7 | g.143351995G>T | CA2579051082 | CLCN1 | c.*30G>T (n.*30G>T) n.2937G>T n.2952G>T | |
| 7 | g.143351997G>A | CA2685383450 | CLCN1 | c.*32G>A (n.*32G>A) n.2939G>A n.2954G>A | gnomAD v4 |
| 7 | g.143351999A>G | CA2685383454 | CLCN1 | c.*34A>G (n.*34A>G) n.2941A>G n.2956A>G | gnomAD v4 |
| 7 | g.143352001A>T | CA2685383457 | CLCN1 | c.*36A>T (n.*36A>T) n.2943A>T n.2958A>T | gnomAD v4 |
| 7 | g.143352002G>A | CA2685383533 | CLCN1 | c.*37G>A (n.*37G>A) n.2944G>A n.2959G>A | gnomAD v4 |
| 7 | g.143352002G>T | CA2685383534 | CLCN1 | c.*37G>T (n.*37G>T) n.2944G>T n.2959G>T | gnomAD v4 |
| 7 | g.143352003G>C | CA1748898438 | CLCN1 | c.*38G>C (n.*38G>C) n.2945G>C n.2960G>C | dbSNP |
| 7 | g.143352003G= | CA1748898437 | CLCN1 | c.*38G= (n.*38G=) n.2945G= n.2960G= | |
| 7 | g.143352004C= | CA1748898439 | CLCN1 | c.*39C= (n.*39C=) n.2946C= n.2961C= | |
| 7 | g.143352004C>G | CA1108133785 | CLCN1 | c.*39C>G (n.*39C>G) n.2946C>G n.2961C>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143352004C>T | CA578626917 | CLCN1 | c.*39C>T (n.*39C>T) n.2946C>T n.2961C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143352005C= | CA1748898440 | CLCN1 | c.*40C= (n.*40C=) n.2962C= | |
| 7 | g.143352005C>T | CA1108133786 | CLCN1 | c.*40C>T (n.*40C>T) n.2962C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143352006C>A | CA2579051083 | CLCN1 | c.*41C>A (n.*41C>A) n.2963C>A | |
| 7 | g.143352008G>A | CA834502548 | CLCN1 | c.*43G>A (n.*43G>A) n.2965G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143352008G>C | CA1108133794 | CLCN1 | c.*43G>C (n.*43G>C) n.2965G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143352008G= | CA1748898441 | CLCN1 | c.*43G= (n.*43G=) n.2965G= | |
| 7 | g.143352009C>A | CA1748898444 | CLCN1 | c.*44C>A (n.*44C>A) n.2966C>A | dbSNP |
| 7 | g.143352009C= | CA1748898443 | CLCN1 | c.*44C= (n.*44C=) n.2966C= | |
| 7 | g.143352009C>G | CA1748898445 | CLCN1 | c.*44C>G (n.*44C>G) n.2966C>G | dbSNP |
| 7 | g.143352009C>T | CA1748898446 | CLCN1 | c.*44C>T (n.*44C>T) n.2966C>T | dbSNP |
| 7 | g.143352009_143352010insTACCACC | CA1748898442 | CLCN1 | c.*44_*45insTACCACC (n.*44_*45insTACCACC) n.2966_2967insTACCACC | dbSNP |
| 7 | g.143352010C= | CA1748898447 | CLCN1 | c.*45C= (n.*45C=) n.2967C= | |
| 7 | g.143352010C>G | CA1748898448 | CLCN1 | c.*45C>G (n.*45C>G) n.2967C>G | dbSNP |
| 7 | g.143352012G>T | CA2685383540 | CLCN1 | c.*47G>T (n.*47G>T) n.2969G>T | gnomAD v4 |
| 7 | g.143352015G>T | CA2685383545 | CLCN1 | c.*50G>T (n.*50G>T) n.2972G>T | gnomAD v4 |
| 7 | g.143352016G>A | CA1108133798 | CLCN1 | c.*51G>A (n.*51G>A) n.2973G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143352016G= | CA1748898449 | CLCN1 | c.*51G= (n.*51G=) n.2973G= | |
| 7 | g.143352018G>A | CA4537834 | CLCN1 | c.*53G>A (n.*53G>A) n.2975G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143352018G= | CA1748898450 | CLCN1 | c.*53G= (n.*53G=) n.2975G= | |
| 7 | g.143352018G>T | CA1108133803 | CLCN1 | c.*53G>T (n.*53G>T) n.2975G>T | dbSNP |
| 7 | g.143352019A>C | CA2685383552 | CLCN1 | c.*54A>C (n.*54A>C) n.2976A>C | gnomAD v4 |