Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.34237451G>A | CA391618453 | SLC12A6 | c.2902C>T (p.Arg968Cys) c.2749C>T (p.Arg917Cys) c.2725C>T (p.Arg909Cys) c.2857C>T (p.Arg953Cys) c.2875C>T (p.Arg959Cys) n.265C>T c.*111C>T (n.*111C>T) c.2338C>T (p.Arg780Cys) c.2755C>T (p.Arg919Cys) n.2908C>T n.4152C>T | dbSNP gnomAD v4 |
15 | g.34237451G>C | CA391618454 | SLC12A6 | c.2902C>G (p.Arg968Gly) c.2749C>G (p.Arg917Gly) c.2725C>G (p.Arg909Gly) c.2857C>G (p.Arg953Gly) c.2875C>G (p.Arg959Gly) n.265C>G c.*111C>G (n.*111C>G) c.2338C>G (p.Arg780Gly) c.2755C>G (p.Arg919Gly) n.2908C>G n.4152C>G | |
15 | g.34237451G>T | CA391618455 | SLC12A6 | c.2902C>A (p.Arg968Ser) c.2749C>A (p.Arg917Ser) c.2725C>A (p.Arg909Ser) c.2857C>A (p.Arg953Ser) c.2875C>A (p.Arg959Ser) n.265C>A c.*111C>A (n.*111C>A) c.2338C>A (p.Arg780Ser) c.2755C>A (p.Arg919Ser) n.2908C>A n.4152C>A | |
15 | g.34237453_34237456del | CA617184693 | SLC12A6 | c.2899_2902del (p.Leu967AlafsTer6) c.2746_2749del (p.Leu916AlafsTer6) c.2722_2725del (p.Leu908AlafsTer6) c.2854_2857del (p.Leu952AlafsTer6) c.2872_2875del (p.Leu958AlafsTer6) n.262_265del c.*108_*111del (n.*108_*111del) c.2335_2338del (p.Leu779AlafsTer6) c.2752_2755del (p.Leu918AlafsTer6) n.2905_2908del n.4149_4152del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34237452T>A | CA391618456 | SLC12A6 | c.2901A>T (p.Leu967Phe) c.2748A>T (p.Leu916Phe) c.2724A>T (p.Leu908Phe) c.2856A>T (p.Leu952Phe) c.2874A>T (p.Leu958Phe) n.264A>T c.*110A>T (n.*110A>T) c.2337A>T (p.Leu779Phe) c.2754A>T (p.Leu918Phe) n.2907A>T n.4151A>T | |
15 | g.34237452T>C | CA7463979 | SLC12A6 | c.2901A>G (p.Leu967=) c.2748A>G (p.Leu916=) c.2724A>G (p.Leu908=) c.2856A>G (p.Leu952=) c.2874A>G (p.Leu958=) n.264A>G c.*110A>G (n.*110A>G) c.2337A>G (p.Leu779=) c.2754A>G (p.Leu918=) n.2907A>G n.4151A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.34237452T>G | CA391618457 | SLC12A6 | c.2901A>C (p.Leu967Phe) c.2748A>C (p.Leu916Phe) c.2724A>C (p.Leu908Phe) c.2856A>C (p.Leu952Phe) c.2874A>C (p.Leu958Phe) n.264A>C c.*110A>C (n.*110A>C) c.2337A>C (p.Leu779Phe) c.2754A>C (p.Leu918Phe) n.2907A>C n.4151A>C | |
15 | g.34237452dup | CA2497387222 | SLC12A6 | c.2901dup (p.Arg968ThrfsTer3) c.2748dup (p.Arg917ThrfsTer3) c.2724dup (p.Arg909ThrfsTer3) c.2856dup (p.Arg953ThrfsTer3) c.2874dup (p.Arg959ThrfsTer3) n.264dup c.*110dup (n.*110dup) c.2337dup (p.Arg780ThrfsTer3) c.2754dup (p.Arg919ThrfsTer3) n.2907dup n.4151dup | dbSNP |
15 | g.34237453A>C | CA391618460 | SLC12A6 | c.2900T>G (p.Leu967Ter) c.2747T>G (p.Leu916Ter) c.2723T>G (p.Leu908Ter) c.2855T>G (p.Leu952Ter) c.2873T>G (p.Leu958Ter) n.263T>G c.*109T>G (n.*109T>G) c.2336T>G (p.Leu779Ter) c.2753T>G (p.Leu918Ter) n.2906T>G n.4150T>G | |
15 | g.34237453A>G | CA391618459 | SLC12A6 | c.2900T>C (p.Leu967Ser) c.2747T>C (p.Leu916Ser) c.2723T>C (p.Leu908Ser) c.2855T>C (p.Leu952Ser) c.2873T>C (p.Leu958Ser) n.263T>C c.*109T>C (n.*109T>C) c.2336T>C (p.Leu779Ser) c.2753T>C (p.Leu918Ser) n.2906T>C n.4150T>C | |
15 | g.34237453A>T | CA391618458 | SLC12A6 | c.2900T>A (p.Leu967Ter) c.2747T>A (p.Leu916Ter) c.2723T>A (p.Leu908Ter) c.2855T>A (p.Leu952Ter) c.2873T>A (p.Leu958Ter) n.263T>A c.*109T>A (n.*109T>A) c.2336T>A (p.Leu779Ter) c.2753T>A (p.Leu918Ter) n.2906T>A n.4150T>A | |
15 | g.34237454A>C | CA391618461 | SLC12A6 | c.2899T>G (p.Leu967Val) c.2746T>G (p.Leu916Val) c.2722T>G (p.Leu908Val) c.2854T>G (p.Leu952Val) c.2872T>G (p.Leu958Val) n.262T>G c.*108T>G (n.*108T>G) c.2335T>G (p.Leu779Val) c.2752T>G (p.Leu918Val) n.2905T>G n.4149T>G | |
15 | g.34237454A>G | CA489412158 | SLC12A6 | c.2899T>C (p.Leu967=) c.2746T>C (p.Leu916=) c.2722T>C (p.Leu908=) c.2854T>C (p.Leu952=) c.2872T>C (p.Leu958=) n.262T>C c.*108T>C (n.*108T>C) c.2335T>C (p.Leu779=) c.2752T>C (p.Leu918=) n.2905T>C n.4149T>C | |
15 | g.34237454A>T | CA391618462 | SLC12A6 | c.2899T>A (p.Leu967Ile) c.2746T>A (p.Leu916Ile) c.2722T>A (p.Leu908Ile) c.2854T>A (p.Leu952Ile) c.2872T>A (p.Leu958Ile) n.262T>A c.*108T>A (n.*108T>A) c.2335T>A (p.Leu779Ile) c.2752T>A (p.Leu918Ile) n.2905T>A n.4149T>A | |
15 | g.34237455G>A | CA489412159 | SLC12A6 | c.2898C>T (p.His966=) c.2745C>T (p.His915=) c.2721C>T (p.His907=) c.2853C>T (p.His951=) c.2871C>T (p.His957=) n.261C>T c.*107C>T (n.*107C>T) c.2334C>T (p.His778=) c.2751C>T (p.His917=) n.2904C>T n.4148C>T | |
15 | g.34237455G>C | CA391618463 | SLC12A6 | c.2898C>G (p.His966Gln) c.2745C>G (p.His915Gln) c.2721C>G (p.His907Gln) c.2853C>G (p.His951Gln) c.2871C>G (p.His957Gln) n.261C>G c.*107C>G (n.*107C>G) c.2334C>G (p.His778Gln) c.2751C>G (p.His917Gln) n.2904C>G n.4148C>G | gnomAD v4 |
15 | g.34237455G>T | CA391618464 | SLC12A6 | c.2898C>A (p.His966Gln) c.2745C>A (p.His915Gln) c.2721C>A (p.His907Gln) c.2853C>A (p.His951Gln) c.2871C>A (p.His957Gln) n.261C>A c.*107C>A (n.*107C>A) c.2334C>A (p.His778Gln) c.2751C>A (p.His917Gln) n.2904C>A n.4148C>A | |
15 | g.34237456T>A | CA391618465 | SLC12A6 | c.2897A>T (p.His966Leu) c.2744A>T (p.His915Leu) c.2720A>T (p.His907Leu) c.2852A>T (p.His951Leu) c.2870A>T (p.His957Leu) n.260A>T c.*106A>T (n.*106A>T) c.2333A>T (p.His778Leu) c.2750A>T (p.His917Leu) n.2903A>T n.4147A>T | |
15 | g.34237456T>C | CA391618466 | SLC12A6 | c.2897A>G (p.His966Arg) c.2744A>G (p.His915Arg) c.2720A>G (p.His907Arg) c.2852A>G (p.His951Arg) c.2870A>G (p.His957Arg) n.260A>G c.*106A>G (n.*106A>G) c.2333A>G (p.His778Arg) c.2750A>G (p.His917Arg) n.2903A>G n.4147A>G | |
15 | g.34237456T>G | CA391618467 | SLC12A6 | c.2897A>C (p.His966Pro) c.2744A>C (p.His915Pro) c.2720A>C (p.His907Pro) c.2852A>C (p.His951Pro) c.2870A>C (p.His957Pro) n.260A>C c.*106A>C (n.*106A>C) c.2333A>C (p.His778Pro) c.2750A>C (p.His917Pro) n.2903A>C n.4147A>C | gnomAD v4 |
15 | g.34237457G>A | CA391618468 | SLC12A6 | c.2896C>T (p.His966Tyr) c.2743C>T (p.His915Tyr) c.2719C>T (p.His907Tyr) c.2851C>T (p.His951Tyr) c.2869C>T (p.His957Tyr) n.259C>T c.*105C>T (n.*105C>T) c.2332C>T (p.His778Tyr) c.2749C>T (p.His917Tyr) n.2902C>T n.4146C>T | gnomAD v4 |
15 | g.34237457G>C | CA391618469 | SLC12A6 | c.2896C>G (p.His966Asp) c.2743C>G (p.His915Asp) c.2719C>G (p.His907Asp) c.2851C>G (p.His951Asp) c.2869C>G (p.His957Asp) n.259C>G c.*105C>G (n.*105C>G) c.2332C>G (p.His778Asp) c.2749C>G (p.His917Asp) n.2902C>G n.4146C>G | |
15 | g.34237457G>T | CA391618470 | SLC12A6 | c.2896C>A (p.His966Asn) c.2743C>A (p.His915Asn) c.2719C>A (p.His907Asn) c.2851C>A (p.His951Asn) c.2869C>A (p.His957Asn) n.259C>A c.*105C>A (n.*105C>A) c.2332C>A (p.His778Asn) c.2749C>A (p.His917Asn) n.2902C>A n.4146C>A | |
15 | g.34237458A>C | CA391618471 | SLC12A6 | c.2895T>G (p.Tyr965Ter) c.2742T>G (p.Tyr914Ter) c.2718T>G (p.Tyr906Ter) c.2850T>G (p.Tyr950Ter) c.2868T>G (p.Tyr956Ter) n.258T>G c.*104T>G (n.*104T>G) c.2331T>G (p.Tyr777Ter) c.2748T>G (p.Tyr916Ter) n.2901T>G n.4145T>G | |
15 | g.34237458A>G | CA489412160 | SLC12A6 | c.2895T>C (p.Tyr965=) c.2742T>C (p.Tyr914=) c.2718T>C (p.Tyr906=) c.2850T>C (p.Tyr950=) c.2868T>C (p.Tyr956=) n.258T>C c.*104T>C (n.*104T>C) c.2331T>C (p.Tyr777=) c.2748T>C (p.Tyr916=) n.2901T>C n.4145T>C | |
15 | g.34237458A>T | CA391618472 | SLC12A6 | c.2895T>A (p.Tyr965Ter) c.2742T>A (p.Tyr914Ter) c.2718T>A (p.Tyr906Ter) c.2850T>A (p.Tyr950Ter) c.2868T>A (p.Tyr956Ter) n.258T>A c.*104T>A (n.*104T>A) c.2331T>A (p.Tyr777Ter) c.2748T>A (p.Tyr916Ter) n.2901T>A n.4145T>A | |
15 | g.34237459T>A | CA391618473 | SLC12A6 | c.2894A>T (p.Tyr965Phe) c.2741A>T (p.Tyr914Phe) c.2717A>T (p.Tyr906Phe) c.2849A>T (p.Tyr950Phe) c.2867A>T (p.Tyr956Phe) n.257A>T c.*103A>T (n.*103A>T) c.2330A>T (p.Tyr777Phe) c.2747A>T (p.Tyr916Phe) n.2900A>T n.4144A>T | |
15 | g.34237459T>C | CA391618475 | SLC12A6 | c.2894A>G (p.Tyr965Cys) c.2741A>G (p.Tyr914Cys) c.2717A>G (p.Tyr906Cys) c.2849A>G (p.Tyr950Cys) c.2867A>G (p.Tyr956Cys) n.257A>G c.*103A>G (n.*103A>G) c.2330A>G (p.Tyr777Cys) c.2747A>G (p.Tyr916Cys) n.2900A>G n.4144A>G | |
15 | g.34237459T>G | CA391618474 | SLC12A6 | c.2894A>C (p.Tyr965Ser) c.2741A>C (p.Tyr914Ser) c.2717A>C (p.Tyr906Ser) c.2849A>C (p.Tyr950Ser) c.2867A>C (p.Tyr956Ser) n.257A>C c.*103A>C (n.*103A>C) c.2330A>C (p.Tyr777Ser) c.2747A>C (p.Tyr916Ser) n.2900A>C n.4144A>C | |
15 | g.34237460A>C | CA391618476 | SLC12A6 | c.2893T>G (p.Tyr965Asp) c.2740T>G (p.Tyr914Asp) c.2716T>G (p.Tyr906Asp) c.2848T>G (p.Tyr950Asp) c.2866T>G (p.Tyr956Asp) n.256T>G c.*102T>G (n.*102T>G) c.2329T>G (p.Tyr777Asp) c.2746T>G (p.Tyr916Asp) n.2899T>G n.4143T>G | |
15 | g.34237460A>G | CA391618477 | SLC12A6 | c.2893T>C (p.Tyr965His) c.2740T>C (p.Tyr914His) c.2716T>C (p.Tyr906His) c.2848T>C (p.Tyr950His) c.2866T>C (p.Tyr956His) n.256T>C c.*102T>C (n.*102T>C) c.2329T>C (p.Tyr777His) c.2746T>C (p.Tyr916His) n.2899T>C n.4143T>C | |
15 | g.34237460A>T | CA391618478 | SLC12A6 | c.2893T>A (p.Tyr965Asn) c.2740T>A (p.Tyr914Asn) c.2716T>A (p.Tyr906Asn) c.2848T>A (p.Tyr950Asn) c.2866T>A (p.Tyr956Asn) n.256T>A c.*102T>A (n.*102T>A) c.2329T>A (p.Tyr777Asn) c.2746T>A (p.Tyr916Asn) n.2899T>A n.4143T>A | |
15 | g.34237460dup | CA712275879 | SLC12A6 | c.2893dup (p.Tyr965LeufsTer6) c.2740dup (p.Tyr914LeufsTer6) c.2716dup (p.Tyr906LeufsTer6) c.2848dup (p.Tyr950LeufsTer6) c.2866dup (p.Tyr956LeufsTer6) n.256dup c.*102dup (n.*102dup) c.2329dup (p.Tyr777LeufsTer6) c.2746dup (p.Tyr916LeufsTer6) n.2899dup n.4143dup | ClinVar dbSNP |
15 | g.34237461T>A | CA489412162 | SLC12A6 | c.2892A>T (p.Leu964=) c.2739A>T (p.Leu913=) c.2715A>T (p.Leu905=) c.2847A>T (p.Leu949=) c.2865A>T (p.Leu955=) n.255A>T c.*101A>T (n.*101A>T) c.2328A>T (p.Leu776=) c.2745A>T (p.Leu915=) n.2898A>T n.4142A>T | gnomAD v4 |
15 | g.34237461T>C | CA7463980 | SLC12A6 | c.2892A>G (p.Leu964=) c.2739A>G (p.Leu913=) c.2715A>G (p.Leu905=) c.2847A>G (p.Leu949=) c.2865A>G (p.Leu955=) n.255A>G c.*101A>G (n.*101A>G) c.2328A>G (p.Leu776=) c.2745A>G (p.Leu915=) n.2898A>G n.4142A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.34237461T>G | CA489412163 | SLC12A6 | c.2892A>C (p.Leu964=) c.2739A>C (p.Leu913=) c.2715A>C (p.Leu905=) c.2847A>C (p.Leu949=) c.2865A>C (p.Leu955=) n.255A>C c.*101A>C (n.*101A>C) c.2328A>C (p.Leu776=) c.2745A>C (p.Leu915=) n.2898A>C n.4142A>C | |
15 | g.34237462A>C | CA391618479 | SLC12A6 | c.2891T>G (p.Leu964Arg) c.2738T>G (p.Leu913Arg) c.2714T>G (p.Leu905Arg) c.2846T>G (p.Leu949Arg) c.2864T>G (p.Leu955Arg) n.254T>G c.*100T>G (n.*100T>G) c.2327T>G (p.Leu776Arg) c.2744T>G (p.Leu915Arg) n.2897T>G n.4141T>G | |
15 | g.34237462A>G | CA391618480 | SLC12A6 | c.2891T>C (p.Leu964Pro) c.2738T>C (p.Leu913Pro) c.2714T>C (p.Leu905Pro) c.2846T>C (p.Leu949Pro) c.2864T>C (p.Leu955Pro) n.254T>C c.*100T>C (n.*100T>C) c.2327T>C (p.Leu776Pro) c.2744T>C (p.Leu915Pro) n.2897T>C n.4141T>C | |
15 | g.34237462A>T | CA391618481 | SLC12A6 | c.2891T>A (p.Leu964Gln) c.2738T>A (p.Leu913Gln) c.2714T>A (p.Leu905Gln) c.2846T>A (p.Leu949Gln) c.2864T>A (p.Leu955Gln) n.254T>A c.*100T>A (n.*100T>A) c.2327T>A (p.Leu776Gln) c.2744T>A (p.Leu915Gln) n.2897T>A n.4141T>A | |
15 | g.34237463G>A | CA489412165 | SLC12A6 | c.2890C>T (p.Leu964=) c.2737C>T (p.Leu913=) c.2713C>T (p.Leu905=) c.2845C>T (p.Leu949=) c.2863C>T (p.Leu955=) n.253C>T c.*99C>T (n.*99C>T) c.2326C>T (p.Leu776=) c.2743C>T (p.Leu915=) n.2896C>T n.4140C>T | gnomAD v4 |
15 | g.34237463G>C | CA391618482 | SLC12A6 | c.2890C>G (p.Leu964Val) c.2737C>G (p.Leu913Val) c.2713C>G (p.Leu905Val) c.2845C>G (p.Leu949Val) c.2863C>G (p.Leu955Val) n.253C>G c.*99C>G (n.*99C>G) c.2326C>G (p.Leu776Val) c.2743C>G (p.Leu915Val) n.2896C>G n.4140C>G | |
15 | g.34237463G>T | CA391618483 | SLC12A6 | c.2890C>A (p.Leu964Ile) c.2737C>A (p.Leu913Ile) c.2713C>A (p.Leu905Ile) c.2845C>A (p.Leu949Ile) c.2863C>A (p.Leu955Ile) n.253C>A c.*99C>A (n.*99C>A) c.2326C>A (p.Leu776Ile) c.2743C>A (p.Leu915Ile) n.2896C>A n.4140C>A | |
15 | g.34237464G>A | CA489412167 | SLC12A6 | c.2889C>T (p.Phe963=) c.2736C>T (p.Phe912=) c.2712C>T (p.Phe904=) c.2844C>T (p.Phe948=) c.2862C>T (p.Phe954=) n.252C>T c.*98C>T (n.*98C>T) c.2325C>T (p.Phe775=) c.2742C>T (p.Phe914=) n.2895C>T n.4139C>T | |
15 | g.34237464G>C | CA391618484 | SLC12A6 | c.2889C>G (p.Phe963Leu) c.2736C>G (p.Phe912Leu) c.2712C>G (p.Phe904Leu) c.2844C>G (p.Phe948Leu) c.2862C>G (p.Phe954Leu) n.252C>G c.*98C>G (n.*98C>G) c.2325C>G (p.Phe775Leu) c.2742C>G (p.Phe914Leu) n.2895C>G n.4139C>G | |
15 | g.34237464G>T | CA391618485 | SLC12A6 | c.2889C>A (p.Phe963Leu) c.2736C>A (p.Phe912Leu) c.2712C>A (p.Phe904Leu) c.2844C>A (p.Phe948Leu) c.2862C>A (p.Phe954Leu) n.252C>A c.*98C>A (n.*98C>A) c.2325C>A (p.Phe775Leu) c.2742C>A (p.Phe914Leu) n.2895C>A n.4139C>A | |
15 | g.34237465A>C | CA391618486 | SLC12A6 | c.2888T>G (p.Phe963Cys) c.2735T>G (p.Phe912Cys) c.2711T>G (p.Phe904Cys) c.2843T>G (p.Phe948Cys) c.2861T>G (p.Phe954Cys) n.251T>G c.*97T>G (n.*97T>G) c.2324T>G (p.Phe775Cys) c.2741T>G (p.Phe914Cys) n.2894T>G n.4138T>G | |
15 | g.34237465A>G | CA391618487 | SLC12A6 | c.2888T>C (p.Phe963Ser) c.2735T>C (p.Phe912Ser) c.2711T>C (p.Phe904Ser) c.2843T>C (p.Phe948Ser) c.2861T>C (p.Phe954Ser) n.251T>C c.*97T>C (n.*97T>C) c.2324T>C (p.Phe775Ser) c.2741T>C (p.Phe914Ser) n.2894T>C n.4138T>C | |
15 | g.34237465A>T | CA391618488 | SLC12A6 | c.2888T>A (p.Phe963Tyr) c.2735T>A (p.Phe912Tyr) c.2711T>A (p.Phe904Tyr) c.2843T>A (p.Phe948Tyr) c.2861T>A (p.Phe954Tyr) n.251T>A c.*97T>A (n.*97T>A) c.2324T>A (p.Phe775Tyr) c.2741T>A (p.Phe914Tyr) n.2894T>A n.4138T>A | |
15 | g.34237466A>C | CA391618491 | SLC12A6 | c.2887T>G (p.Phe963Val) c.2734T>G (p.Phe912Val) c.2710T>G (p.Phe904Val) c.2842T>G (p.Phe948Val) c.2860T>G (p.Phe954Val) n.250T>G c.*96T>G (n.*96T>G) c.2323T>G (p.Phe775Val) c.2740T>G (p.Phe914Val) n.2893T>G n.4137T>G | |
15 | g.34237466A>G | CA391618489 | SLC12A6 | c.2887T>C (p.Phe963Leu) c.2734T>C (p.Phe912Leu) c.2710T>C (p.Phe904Leu) c.2842T>C (p.Phe948Leu) c.2860T>C (p.Phe954Leu) n.250T>C c.*96T>C (n.*96T>C) c.2323T>C (p.Phe775Leu) c.2740T>C (p.Phe914Leu) n.2893T>C n.4137T>C |