| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143350569_143350572dup | CA2695208581 | CLCN1 | c.2510_2513dup (p.Thr839SerfsTer?) c.2334_2337dup n.2450_2453dup c.2534_2537dup (p.Thr847SerfsTer?) c.1256_1259dup (p.Thr421SerfsTer?) c.2084_2087dup (p.Thr697SerfsTer?) c.2060_2063dup (p.Thr689SerfsTer?) n.2465_2468dup | |
| 7 | g.143350572A= | CA1748897720 | CLCN1 | c.2513A= (p.His838=) c.2337A= n.2453A= c.2537A= (p.His846=) c.1259A= (p.His420=) c.2087A= (p.His696=) c.2063A= (p.His688=) n.2468A= | |
| 7 | g.143350572A>C | CA369653130 | CLCN1 | c.2513A>C (p.His838Pro) c.2337A>C n.2453A>C c.2537A>C (p.His846Pro) c.1259A>C (p.His420Pro) c.2087A>C (p.His696Pro) c.2063A>C (p.His688Pro) n.2468A>C | |
| 7 | g.143350572A>G | CA4537718 | CLCN1 | c.2513A>G (p.His838Arg) c.2337A>G n.2453A>G c.2537A>G (p.His846Arg) c.1259A>G (p.His420Arg) c.2087A>G (p.His696Arg) c.2063A>G (p.His688Arg) n.2468A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143350572A>T | CA4537719 | CLCN1 | c.2513A>T (p.His838Leu) c.2337A>T n.2453A>T c.2537A>T (p.His846Leu) c.1259A>T (p.His420Leu) c.2087A>T (p.His696Leu) c.2063A>T (p.His688Leu) n.2468A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143350573T>A | CA369653132 | CLCN1 | c.2514T>A (p.His838Gln) c.2338T>A n.2454T>A c.2538T>A (p.His846Gln) c.1260T>A (p.His420Gln) c.2088T>A (p.His696Gln) c.2064T>A (p.His688Gln) n.2469T>A | |
| 7 | g.143350573T>C | CA4537720 | CLCN1 | c.2514T>C (p.His838=) c.2338T>C n.2454T>C c.2538T>C (p.His846=) c.1260T>C (p.His420=) c.2088T>C (p.His696=) c.2064T>C (p.His688=) n.2469T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143350573T>G | CA369653131 | CLCN1 | c.2514T>G (p.His838Gln) c.2338T>G n.2454T>G c.2538T>G (p.His846Gln) c.1260T>G (p.His420Gln) c.2088T>G (p.His696Gln) c.2064T>G (p.His688Gln) n.2469T>G | |
| 7 | g.143350573T= | CA1748897721 | CLCN1 | c.2514T= (p.His838=) c.2338T= n.2454T= c.2538T= (p.His846=) c.1260T= (p.His420=) c.2088T= (p.His696=) c.2064T= (p.His688=) n.2469T= | |
| 7 | g.143350574A= | CA1748897722 | CLCN1 | c.2515A= (p.Thr839=) c.2339A= n.2455A= c.2539A= (p.Thr847=) c.1261A= (p.Thr421=) c.2089A= (p.Thr697=) c.2065A= (p.Thr689=) n.2470A= | |
| 7 | g.143350574A>C | CA369653133 | CLCN1 | c.2515A>C (p.Thr839Pro) c.2339A>C n.2455A>C c.2539A>C (p.Thr847Pro) c.1261A>C (p.Thr421Pro) c.2089A>C (p.Thr697Pro) c.2065A>C (p.Thr689Pro) n.2470A>C | |
| 7 | g.143350574A>G | CA369653134 | CLCN1 | c.2515A>G (p.Thr839Ala) c.2339A>G n.2455A>G c.2539A>G (p.Thr847Ala) c.1261A>G (p.Thr421Ala) c.2089A>G (p.Thr697Ala) c.2065A>G (p.Thr689Ala) n.2470A>G | dbSNP |
| 7 | g.143350574A>T | CA369653135 | CLCN1 | c.2515A>T (p.Thr839Ser) c.2339A>T n.2455A>T c.2539A>T (p.Thr847Ser) c.1261A>T (p.Thr421Ser) c.2089A>T (p.Thr697Ser) c.2065A>T (p.Thr689Ser) n.2470A>T | |
| 7 | g.143350575C>A | CA369653136 | CLCN1 | c.2516C>A (p.Thr839Asn) c.2340C>A n.2456C>A c.2540C>A (p.Thr847Asn) c.1262C>A (p.Thr421Asn) c.2090C>A (p.Thr697Asn) c.2066C>A (p.Thr689Asn) n.2471C>A | gnomAD v4 |
| 7 | g.143350575C>G | CA369653137 | CLCN1 | c.2516C>G (p.Thr839Ser) c.2340C>G n.2456C>G c.2540C>G (p.Thr847Ser) c.1262C>G (p.Thr421Ser) c.2090C>G (p.Thr697Ser) c.2066C>G (p.Thr689Ser) n.2471C>G | |
| 7 | g.143350575C>T | CA369653138 | CLCN1 | c.2516C>T (p.Thr839Ile) c.2340C>T n.2456C>T c.2540C>T (p.Thr847Ile) c.1262C>T (p.Thr421Ile) c.2090C>T (p.Thr697Ile) c.2066C>T (p.Thr689Ile) n.2471C>T | gnomAD v4 |
| 7 | g.143350576C>A | CA458288605 | CLCN1 | c.2517C>A (p.Thr839=) c.2341C>A n.2457C>A c.2541C>A (p.Thr847=) c.1263C>A (p.Thr421=) c.2091C>A (p.Thr697=) c.2067C>A (p.Thr689=) n.2472C>A | |
| 7 | g.143350576C= | CA1748897724 | CLCN1 | c.2517C= (p.Thr839=) c.2341C= n.2457C= c.2541C= (p.Thr847=) c.1263C= (p.Thr421=) c.2091C= (p.Thr697=) c.2067C= (p.Thr689=) n.2472C= | |
| 7 | g.143350576C>G | CA4537721 | CLCN1 | c.2517C>G (p.Thr839=) c.2341C>G n.2457C>G c.2541C>G (p.Thr847=) c.1263C>G (p.Thr421=) c.2091C>G (p.Thr697=) c.2067C>G (p.Thr689=) n.2472C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143350576C>T | CA458288608 | CLCN1 | c.2517C>T (p.Thr839=) c.2341C>T n.2457C>T c.2541C>T (p.Thr847=) c.1263C>T (p.Thr421=) c.2091C>T (p.Thr697=) c.2067C>T (p.Thr689=) n.2472C>T | gnomAD v4 |
| 7 | g.143350576_143350578delinsCCT | CA1748897723 | CLCN1 | c.2517_2519delinsCCT (p.Thr839=) c.2341_2343delinsCCT n.2457_2459delinsCCT c.2541_2543delinsCCT (p.Thr847=) c.1263_1265delinsCCT (p.Thr421=) c.2091_2093delinsCCT (p.Thr697=) c.2067_2069delinsCCT (p.Thr689=) n.2472_2474delinsCCT | |
| 7 | g.143350577C>A | CA369653139 | CLCN1 | c.2518C>A (p.Leu840Met) c.2342C>A n.2458C>A c.2542C>A (p.Leu848Met) c.1264C>A (p.Leu422Met) c.2092C>A (p.Leu698Met) c.2068C>A (p.Leu690Met) n.2473C>A | dbSNP |
| 7 | g.143350577C= | CA1748897725 | CLCN1 | c.2518C= (p.Leu840=) c.2342C= n.2458C= c.2542C= (p.Leu848=) c.1264C= (p.Leu422=) c.2092C= (p.Leu698=) c.2068C= (p.Leu690=) n.2473C= | |
| 7 | g.143350577C>G | CA369653140 | CLCN1 | c.2518C>G (p.Leu840Val) c.2342C>G n.2458C>G c.2542C>G (p.Leu848Val) c.1264C>G (p.Leu422Val) c.2092C>G (p.Leu698Val) c.2068C>G (p.Leu690Val) n.2473C>G | |
| 7 | g.143350577C>T | CA458288616 | CLCN1 | c.2518C>T (p.Leu840=) c.2342C>T n.2458C>T c.2542C>T (p.Leu848=) c.1264C>T (p.Leu422=) c.2092C>T (p.Leu698=) c.2068C>T (p.Leu690=) n.2473C>T | gnomAD v4 |
| 7 | g.143350577_143350578del | CA4537722 | CLCN1 | c.2518_2519del (p.Leu840ValfsTer?) c.2342_2343del n.2458_2459del c.2542_2543del (p.Leu848ValfsTer?) c.1264_1265del (p.Leu422ValfsTer?) c.2092_2093del (p.Leu698ValfsTer?) c.2068_2069del (p.Leu690ValfsTer?) n.2473_2474del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143350578T>A | CA369653141 | CLCN1 | c.2519T>A (p.Leu840Gln) c.2343T>A n.2459T>A c.2543T>A (p.Leu848Gln) c.1265T>A (p.Leu422Gln) c.2093T>A (p.Leu698Gln) c.2069T>A (p.Leu690Gln) n.2474T>A | |
| 7 | g.143350578T>C | CA369653142 | CLCN1 | c.2519T>C (p.Leu840Pro) c.2343T>C n.2459T>C c.2543T>C (p.Leu848Pro) c.1265T>C (p.Leu422Pro) c.2093T>C (p.Leu698Pro) c.2069T>C (p.Leu690Pro) n.2474T>C | |
| 7 | g.143350578T>G | CA369653143 | CLCN1 | c.2519T>G (p.Leu840Arg) c.2343T>G n.2459T>G c.2543T>G (p.Leu848Arg) c.1265T>G (p.Leu422Arg) c.2093T>G (p.Leu698Arg) c.2069T>G (p.Leu690Arg) n.2474T>G | |
| 7 | g.143350579G>A | CA458288631 | CLCN1 | c.2520G>A (p.Leu840=) c.2344G>A n.2460G>A c.2544G>A (p.Leu848=) c.1266G>A (p.Leu422=) c.2094G>A (p.Leu698=) c.2070G>A (p.Leu690=) n.2475G>A | |
| 7 | g.143350579G>C | CA458288629 | CLCN1 | c.2520G>C (p.Leu840=) c.2344G>C n.2460G>C c.2544G>C (p.Leu848=) c.1266G>C (p.Leu422=) c.2094G>C (p.Leu698=) c.2070G>C (p.Leu690=) n.2475G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143350579G= | CA1748897726 | CLCN1 | c.2520G= (p.Leu840=) c.2344G= n.2460G= c.2544G= (p.Leu848=) c.1266G= (p.Leu422=) c.2094G= (p.Leu698=) c.2070G= (p.Leu690=) n.2475G= | |
| 7 | g.143350579G>T | CA458288627 | CLCN1 | c.2520G>T (p.Leu840=) c.2344G>T n.2460G>T c.2544G>T (p.Leu848=) c.1266G>T (p.Leu422=) c.2094G>T (p.Leu698=) c.2070G>T (p.Leu690=) n.2475G>T | |
| 7 | g.143350580T>A | CA369653146 | CLCN1 | c.2521T>A (p.Phe841Ile) c.2345T>A n.2461T>A c.2545T>A (p.Phe849Ile) c.1267T>A (p.Phe423Ile) c.2095T>A (p.Phe699Ile) c.2071T>A (p.Phe691Ile) n.2476T>A | |
| 7 | g.143350580T>C | CA369653145 | CLCN1 | c.2521T>C (p.Phe841Leu) c.2345T>C n.2461T>C c.2545T>C (p.Phe849Leu) c.1267T>C (p.Phe423Leu) c.2095T>C (p.Phe699Leu) c.2071T>C (p.Phe691Leu) n.2476T>C | |
| 7 | g.143350580T>G | CA369653144 | CLCN1 | c.2521T>G (p.Phe841Val) c.2345T>G n.2461T>G c.2545T>G (p.Phe849Val) c.1267T>G (p.Phe423Val) c.2095T>G (p.Phe699Val) c.2071T>G (p.Phe691Val) n.2476T>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143350580T= | CA1748897727 | CLCN1 | c.2521T= (p.Phe841=) c.2345T= n.2461T= c.2545T= (p.Phe849=) c.1267T= (p.Phe423=) c.2095T= (p.Phe699=) c.2071T= (p.Phe691=) n.2476T= | |
| 7 | g.143350583del | CA2740094939 | CLCN1 | c.2524del (p.Ser842HisfsTer10) c.2348del n.2464del c.2548del (p.Ser850HisfsTer10) c.1270del (p.Ser424HisfsTer10) c.2098del (p.Ser700HisfsTer10) c.2074del (p.Ser692HisfsTer10) n.2479del | |
| 7 | g.143350581T>A | CA369653147 | CLCN1 | c.2522T>A (p.Phe841Tyr) c.2346T>A n.2462T>A c.2546T>A (p.Phe849Tyr) c.1268T>A (p.Phe423Tyr) c.2096T>A (p.Phe699Tyr) c.2072T>A (p.Phe691Tyr) n.2477T>A | |
| 7 | g.143350581T>C | CA369653148 | CLCN1 | c.2522T>C (p.Phe841Ser) c.2346T>C n.2462T>C c.2546T>C (p.Phe849Ser) c.1268T>C (p.Phe423Ser) c.2096T>C (p.Phe699Ser) c.2072T>C (p.Phe691Ser) n.2477T>C | |
| 7 | g.143350581T>G | CA369653149 | CLCN1 | c.2522T>G (p.Phe841Cys) c.2346T>G n.2462T>G c.2546T>G (p.Phe849Cys) c.1268T>G (p.Phe423Cys) c.2096T>G (p.Phe699Cys) c.2072T>G (p.Phe691Cys) n.2477T>G | |
| 7 | g.143350582T>A | CA369653151 | CLCN1 | c.2523T>A (p.Phe841Leu) c.2347T>A n.2463T>A c.2547T>A (p.Phe849Leu) c.1269T>A (p.Phe423Leu) c.2097T>A (p.Phe699Leu) c.2073T>A (p.Phe691Leu) n.2478T>A | |
| 7 | g.143350582T>C | CA458288646 | CLCN1 | c.2523T>C (p.Phe841=) c.2347T>C n.2463T>C c.2547T>C (p.Phe849=) c.1269T>C (p.Phe423=) c.2097T>C (p.Phe699=) c.2073T>C (p.Phe691=) n.2478T>C | |
| 7 | g.143350582T>G | CA369653152 | CLCN1 | c.2523T>G (p.Phe841Leu) c.2347T>G n.2463T>G c.2547T>G (p.Phe849Leu) c.1269T>G (p.Phe423Leu) c.2097T>G (p.Phe699Leu) c.2073T>G (p.Phe691Leu) n.2478T>G | |
| 7 | g.143350583T>A | CA369653153 | CLCN1 | c.2524T>A (p.Ser842Thr) c.2348T>A n.2464T>A c.2548T>A (p.Ser850Thr) c.1270T>A (p.Ser424Thr) c.2098T>A (p.Ser700Thr) c.2074T>A (p.Ser692Thr) n.2479T>A | |
| 7 | g.143350583T>C | CA369653154 | CLCN1 | c.2524T>C (p.Ser842Pro) c.2348T>C n.2464T>C c.2548T>C (p.Ser850Pro) c.1270T>C (p.Ser424Pro) c.2098T>C (p.Ser700Pro) c.2074T>C (p.Ser692Pro) n.2479T>C | |
| 7 | g.143350583T>G | CA369653155 | CLCN1 | c.2524T>G (p.Ser842Ala) c.2348T>G n.2464T>G c.2548T>G (p.Ser850Ala) c.1270T>G (p.Ser424Ala) c.2098T>G (p.Ser700Ala) c.2074T>G (p.Ser692Ala) n.2479T>G | |
| 7 | g.143350584C>A | CA369653156 | CLCN1 | c.2525C>A (p.Ser842Ter) c.2349C>A n.2465C>A c.2549C>A (p.Ser850Ter) c.1271C>A (p.Ser424Ter) c.2099C>A (p.Ser700Ter) c.2075C>A (p.Ser692Ter) n.2480C>A | |
| 7 | g.143350584C= | CA1748897728 | CLCN1 | c.2525C= (p.Ser842=) c.2349C= n.2465C= c.2549C= (p.Ser850=) c.1271C= (p.Ser424=) c.2099C= (p.Ser700=) c.2075C= (p.Ser692=) n.2480C= | |
| 7 | g.143350584C>G | CA369653157 | CLCN1 | c.2525C>G (p.Ser842Ter) c.2349C>G n.2465C>G c.2549C>G (p.Ser850Ter) c.1271C>G (p.Ser424Ter) c.2099C>G (p.Ser700Ter) c.2075C>G (p.Ser692Ter) n.2480C>G |