| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143351633C>A | CA369653507 | CLCN1 | c.2635C>A (p.Gln879Lys) c.2459C>A n.2575C>A c.2659C>A (p.Gln887Lys) c.1381C>A (p.Gln461Lys) c.2209C>A (p.Gln737Lys) c.2185C>A (p.Gln729Lys) n.2590C>A | |
| 7 | g.143351633C= | CA1748898254 | CLCN1 | c.2635C= (p.Gln879=) c.2459C= n.2575C= c.2659C= (p.Gln887=) c.1381C= (p.Gln461=) c.2209C= (p.Gln737=) c.2185C= (p.Gln729=) n.2590C= | |
| 7 | g.143351633C>G | CA369653506 | CLCN1 | c.2635C>G (p.Gln879Glu) c.2459C>G n.2575C>G c.2659C>G (p.Gln887Glu) c.1381C>G (p.Gln461Glu) c.2209C>G (p.Gln737Glu) c.2185C>G (p.Gln729Glu) n.2590C>G | |
| 7 | g.143351633C>T | CA16043424 | CLCN1 | c.2635C>T (p.Gln879Ter) c.2459C>T n.2575C>T c.2659C>T (p.Gln887Ter) c.1381C>T (p.Gln461Ter) c.2209C>T (p.Gln737Ter) c.2185C>T (p.Gln729Ter) n.2590C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351634A>C | CA369653508 | CLCN1 | c.2636A>C (p.Gln879Pro) c.2460A>C n.2576A>C c.2660A>C (p.Gln887Pro) c.1382A>C (p.Gln461Pro) c.2210A>C (p.Gln737Pro) c.2186A>C (p.Gln729Pro) n.2591A>C | |
| 7 | g.143351634A>G | CA369653509 | CLCN1 | c.2636A>G (p.Gln879Arg) c.2460A>G n.2576A>G c.2660A>G (p.Gln887Arg) c.1382A>G (p.Gln461Arg) c.2210A>G (p.Gln737Arg) c.2186A>G (p.Gln729Arg) n.2591A>G | gnomAD v4 |
| 7 | g.143351634A>T | CA369653510 | CLCN1 | c.2636A>T (p.Gln879Leu) c.2460A>T n.2576A>T c.2660A>T (p.Gln887Leu) c.1382A>T (p.Gln461Leu) c.2210A>T (p.Gln737Leu) c.2186A>T (p.Gln729Leu) n.2591A>T | |
| 7 | g.143351635G>A | CA458542317 | CLCN1 | c.2637G>A (p.Gln879=) c.2461G>A n.2577G>A c.2661G>A (p.Gln887=) c.1383G>A (p.Gln461=) c.2211G>A (p.Gln737=) c.2187G>A (p.Gln729=) n.2592G>A | |
| 7 | g.143351635G>C | CA369653511 | CLCN1 | c.2637G>C (p.Gln879His) c.2461G>C n.2577G>C c.2661G>C (p.Gln887His) c.1383G>C (p.Gln461His) c.2211G>C (p.Gln737His) c.2187G>C (p.Gln729His) n.2592G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351635G= | CA1748898255 | CLCN1 | c.2637G= (p.Gln879=) c.2461G= n.2577G= c.2661G= (p.Gln887=) c.1383G= (p.Gln461=) c.2211G= (p.Gln737=) c.2187G= (p.Gln729=) n.2592G= | |
| 7 | g.143351635G>T | CA369653512 | CLCN1 | c.2637G>T (p.Gln879His) c.2461G>T n.2577G>T c.2661G>T (p.Gln887His) c.1383G>T (p.Gln461His) c.2211G>T (p.Gln737His) c.2187G>T (p.Gln729His) n.2592G>T | |
| 7 | g.143351636C>A | CA369653513 | CLCN1 | c.2638C>A (p.Leu880Ile) c.2462C>A n.2578C>A c.2662C>A (p.Leu888Ile) c.1384C>A (p.Leu462Ile) c.2212C>A (p.Leu738Ile) c.2188C>A (p.Leu730Ile) n.2593C>A | |
| 7 | g.143351636C= | CA1748898256 | CLCN1 | c.2638C= (p.Leu880=) c.2462C= n.2578C= c.2662C= (p.Leu888=) c.1384C= (p.Leu462=) c.2212C= (p.Leu738=) c.2188C= (p.Leu730=) n.2593C= | |
| 7 | g.143351636C>G | CA369653515 | CLCN1 | c.2638C>G (p.Leu880Val) c.2462C>G n.2578C>G c.2662C>G (p.Leu888Val) c.1384C>G (p.Leu462Val) c.2212C>G (p.Leu738Val) c.2188C>G (p.Leu730Val) n.2593C>G | dbSNP gnomAD v4 |
| 7 | g.143351636C>T | CA369653514 | CLCN1 | c.2638C>T (p.Leu880Phe) c.2462C>T n.2578C>T c.2662C>T (p.Leu888Phe) c.1384C>T (p.Leu462Phe) c.2212C>T (p.Leu738Phe) c.2188C>T (p.Leu730Phe) n.2593C>T | dbSNP |
| 7 | g.143351637_143351639del | CA2580077631 | CLCN1 | c.2639_2641del (p.Leu880del) c.2463_2465del n.2579_2581del c.2663_2665del (p.Leu888del) c.1385_1387del (p.Leu462del) c.2213_2215del (p.Leu738del) c.2189_2191del (p.Leu730del) n.2594_2596del | ClinVar |
| 7 | g.143351637T>A | CA369653516 | CLCN1 | c.2639T>A (p.Leu880His) c.2463T>A n.2579T>A c.2663T>A (p.Leu888His) c.1385T>A (p.Leu462His) c.2213T>A (p.Leu738His) c.2189T>A (p.Leu730His) n.2594T>A | |
| 7 | g.143351637T>C | CA369653517 | CLCN1 | c.2639T>C (p.Leu880Pro) c.2463T>C n.2579T>C c.2663T>C (p.Leu888Pro) c.1385T>C (p.Leu462Pro) c.2213T>C (p.Leu738Pro) c.2189T>C (p.Leu730Pro) n.2594T>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143351637T>G | CA369653518 | CLCN1 | c.2639T>G (p.Leu880Arg) c.2463T>G n.2579T>G c.2663T>G (p.Leu888Arg) c.1385T>G (p.Leu462Arg) c.2213T>G (p.Leu738Arg) c.2189T>G (p.Leu730Arg) n.2594T>G | |
| 7 | g.143351637T= | CA1748898257 | CLCN1 | c.2639T= (p.Leu880=) c.2463T= n.2579T= c.2663T= (p.Leu888=) c.1385T= (p.Leu462=) c.2213T= (p.Leu738=) c.2189T= (p.Leu730=) n.2594T= | |
| 7 | g.143351638C>A | CA458542318 | CLCN1 | c.2640C>A (p.Leu880=) c.2464C>A n.2580C>A c.2664C>A (p.Leu888=) c.1386C>A (p.Leu462=) c.2214C>A (p.Leu738=) c.2190C>A (p.Leu730=) n.2595C>A | |
| 7 | g.143351638C>G | CA458542319 | CLCN1 | c.2640C>G (p.Leu880=) c.2464C>G n.2580C>G c.2664C>G (p.Leu888=) c.1386C>G (p.Leu462=) c.2214C>G (p.Leu738=) c.2190C>G (p.Leu730=) n.2595C>G | |
| 7 | g.143351638C>T | CA458542320 | CLCN1 | c.2640C>T (p.Leu880=) c.2464C>T n.2580C>T c.2664C>T (p.Leu888=) c.1386C>T (p.Leu462=) c.2214C>T (p.Leu738=) c.2190C>T (p.Leu730=) n.2595C>T | COSMIC |
| 7 | g.143351639C>A | CA369653519 | CLCN1 | c.2641C>A (p.Arg881Ser) c.2465C>A n.2581C>A c.2665C>A (p.Arg889Ser) c.1387C>A (p.Arg463Ser) c.2215C>A (p.Arg739Ser) c.2191C>A (p.Arg731Ser) n.2596C>A | |
| 7 | g.143351639C= | CA1748898258 | CLCN1 | c.2641C= (p.Arg881=) c.2465C= n.2581C= c.2665C= (p.Arg889=) c.1387C= (p.Arg463=) c.2215C= (p.Arg739=) c.2191C= (p.Arg731=) n.2596C= | |
| 7 | g.143351639C>G | CA369653520 | CLCN1 | c.2641C>G (p.Arg881Gly) c.2465C>G n.2581C>G c.2665C>G (p.Arg889Gly) c.1387C>G (p.Arg463Gly) c.2215C>G (p.Arg739Gly) c.2191C>G (p.Arg731Gly) n.2596C>G | |
| 7 | g.143351639C>T | CA369653521 | CLCN1 | c.2641C>T (p.Arg881Cys) c.2465C>T n.2581C>T c.2665C>T (p.Arg889Cys) c.1387C>T (p.Arg463Cys) c.2215C>T (p.Arg739Cys) c.2191C>T (p.Arg731Cys) n.2596C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.143351640G>A | CA4537758 | CLCN1 | c.2642G>A (p.Arg881His) c.2466G>A n.2582G>A c.2666G>A (p.Arg889His) c.1388G>A (p.Arg463His) c.2216G>A (p.Arg739His) c.2192G>A (p.Arg731His) n.2597G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.143351640G>C | CA369653522 | CLCN1 | c.2642G>C (p.Arg881Pro) c.2466G>C n.2582G>C c.2666G>C (p.Arg889Pro) c.1388G>C (p.Arg463Pro) c.2216G>C (p.Arg739Pro) c.2192G>C (p.Arg731Pro) n.2597G>C | |
| 7 | g.143351640G= | CA1748898259 | CLCN1 | c.2642G= (p.Arg881=) c.2466G= n.2582G= c.2666G= (p.Arg889=) c.1388G= (p.Arg463=) c.2216G= (p.Arg739=) c.2192G= (p.Arg731=) n.2597G= | |
| 7 | g.143351640G>T | CA369653523 | CLCN1 | c.2642G>T (p.Arg881Leu) c.2466G>T n.2582G>T c.2666G>T (p.Arg889Leu) c.1388G>T (p.Arg463Leu) c.2216G>T (p.Arg739Leu) c.2192G>T (p.Arg731Leu) n.2597G>T | gnomAD v4 COSMIC |
| 7 | g.143351641C>A | CA458542323 | CLCN1 | c.2643C>A (p.Arg881=) c.2467C>A n.2583C>A c.2667C>A (p.Arg889=) c.1389C>A (p.Arg463=) c.2217C>A (p.Arg739=) c.2193C>A (p.Arg731=) n.2598C>A | |
| 7 | g.143351641C>G | CA458542322 | CLCN1 | c.2643C>G (p.Arg881=) c.2467C>G n.2583C>G c.2667C>G (p.Arg889=) c.1389C>G (p.Arg463=) c.2217C>G (p.Arg739=) c.2193C>G (p.Arg731=) n.2598C>G | |
| 7 | g.143351641C>T | CA458542321 | CLCN1 | c.2643C>T (p.Arg881=) c.2467C>T n.2583C>T c.2667C>T (p.Arg889=) c.1389C>T (p.Arg463=) c.2217C>T (p.Arg739=) c.2193C>T (p.Arg731=) n.2598C>T | |
| 7 | g.143351642C>A | CA369653524 | CLCN1 | c.2644C>A (p.Pro882Thr) c.2468C>A n.2584C>A c.2668C>A (p.Pro890Thr) c.1390C>A (p.Pro464Thr) c.2218C>A (p.Pro740Thr) c.2194C>A (p.Pro732Thr) n.2599C>A | |
| 7 | g.143351642C= | CA1748898260 | CLCN1 | c.2644C= (p.Pro882=) c.2468C= n.2584C= c.2668C= (p.Pro890=) c.1390C= (p.Pro464=) c.2218C= (p.Pro740=) c.2194C= (p.Pro732=) n.2599C= | |
| 7 | g.143351642C>G | CA369653525 | CLCN1 | c.2644C>G (p.Pro882Ala) c.2468C>G n.2584C>G c.2668C>G (p.Pro890Ala) c.1390C>G (p.Pro464Ala) c.2218C>G (p.Pro740Ala) c.2194C>G (p.Pro732Ala) n.2599C>G | |
| 7 | g.143351642C>T | CA369653526 | CLCN1 | c.2644C>T (p.Pro882Ser) c.2468C>T n.2584C>T c.2668C>T (p.Pro890Ser) c.1390C>T (p.Pro464Ser) c.2218C>T (p.Pro740Ser) c.2194C>T (p.Pro732Ser) n.2599C>T | dbSNP |
| 7 | g.143351643C>A | CA369653527 | CLCN1 | c.2645C>A (p.Pro882His) c.2469C>A n.2585C>A c.2669C>A (p.Pro890His) c.1391C>A (p.Pro464His) c.2219C>A (p.Pro740His) c.2195C>A (p.Pro732His) n.2600C>A | |
| 7 | g.143351643C= | CA1748898261 | CLCN1 | c.2645C= (p.Pro882=) c.2469C= n.2585C= c.2669C= (p.Pro890=) c.1391C= (p.Pro464=) c.2219C= (p.Pro740=) c.2195C= (p.Pro732=) n.2600C= | |
| 7 | g.143351643C>G | CA369653528 | CLCN1 | c.2645C>G (p.Pro882Arg) c.2469C>G n.2585C>G c.2669C>G (p.Pro890Arg) c.1391C>G (p.Pro464Arg) c.2219C>G (p.Pro740Arg) c.2195C>G (p.Pro732Arg) n.2600C>G | |
| 7 | g.143351643C>T | CA4537759 | CLCN1 | c.2645C>T (p.Pro882Leu) c.2469C>T n.2585C>T c.2669C>T (p.Pro890Leu) c.1391C>T (p.Pro464Leu) c.2219C>T (p.Pro740Leu) c.2195C>T (p.Pro732Leu) n.2600C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351644T>A | CA458542324 | CLCN1 | c.2646T>A (p.Pro882=) c.2470T>A n.2586T>A c.2670T>A (p.Pro890=) c.1392T>A (p.Pro464=) c.2220T>A (p.Pro740=) c.2196T>A (p.Pro732=) n.2601T>A | |
| 7 | g.143351644T>C | CA458542325 | CLCN1 | c.2646T>C (p.Pro882=) c.2470T>C n.2586T>C c.2670T>C (p.Pro890=) c.1392T>C (p.Pro464=) c.2220T>C (p.Pro740=) c.2196T>C (p.Pro732=) n.2601T>C | |
| 7 | g.143351644T>G | CA458542326 | CLCN1 | c.2646T>G (p.Pro882=) c.2470T>G n.2586T>G c.2670T>G (p.Pro890=) c.1392T>G (p.Pro464=) c.2220T>G (p.Pro740=) c.2196T>G (p.Pro732=) n.2601T>G | |
| 7 | g.143351645C>A | CA4537760 | CLCN1 | c.2647C>A (p.Pro883Thr) c.2471C>A n.2587C>A c.2671C>A (p.Pro891Thr) c.1393C>A (p.Pro465Thr) c.2221C>A (p.Pro741Thr) c.2197C>A (p.Pro733Thr) n.2602C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143351645C= | CA1748898262 | CLCN1 | c.2647C= (p.Pro883=) c.2471C= n.2587C= c.2671C= (p.Pro891=) c.1393C= (p.Pro465=) c.2221C= (p.Pro741=) c.2197C= (p.Pro733=) n.2602C= | |
| 7 | g.143351645C>G | CA369653529 | CLCN1 | c.2647C>G (p.Pro883Ala) c.2471C>G n.2587C>G c.2671C>G (p.Pro891Ala) c.1393C>G (p.Pro465Ala) c.2221C>G (p.Pro741Ala) c.2197C>G (p.Pro733Ala) n.2602C>G | |
| 7 | g.143351645C>T | CA369653530 | CLCN1 | c.2647C>T (p.Pro883Ser) c.2471C>T n.2587C>T c.2671C>T (p.Pro891Ser) c.1393C>T (p.Pro465Ser) c.2221C>T (p.Pro741Ser) c.2197C>T (p.Pro733Ser) n.2602C>T | |
| 7 | g.143351648dup | CA2685382642 | CLCN1 | c.2650dup (p.Leu884ProfsTer28) c.2474dup n.2590dup c.2674dup (p.Leu892ProfsTer28) c.1396dup (p.Leu466ProfsTer28) c.2224dup (p.Leu742ProfsTer28) c.2200dup (p.Leu734ProfsTer28) n.2605dup | gnomAD v4 |