Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143350576C>ACA458288605CLCN1c.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
7g.143350576C=CA1748897724CLCN1c.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=
7g.143350576C>GCA4537721CLCN1c.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
7g.143350576C>TCA458288608CLCN1c.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
7g.143350576_143350578delinsCCTCA1748897723CLCN1c.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
7g.143350577C>ACA369653139CLCN1c.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
7g.143350577C=CA1748897725CLCN1c.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=
7g.143350577C>GCA369653140CLCN1c.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
7g.143350577C>TCA458288616CLCN1c.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
7g.143350577_143350578delCA4537722CLCN1c.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
7g.143350578T>ACA369653141CLCN1c.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
7g.143350578T>CCA369653142CLCN1c.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
7g.143350578T>GCA369653143CLCN1c.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
 ClinVar
7g.143350579G>ACA458288631CLCN1c.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
7g.143350579G>CCA458288629CLCN1c.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
7g.143350579G=CA1748897726CLCN1c.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=
7g.143350579G>TCA458288627CLCN1c.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
7g.143350580T>ACA369653146CLCN1c.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
7g.143350580T>CCA369653145CLCN1c.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
7g.143350580T>GCA369653144CLCN1c.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
7g.143350580T=CA1748897727CLCN1c.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=
7g.143350583delCA2740094939CLCN1c.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
 ClinVar
7g.143350581T>ACA369653147CLCN1c.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
7g.143350581T>CCA369653148CLCN1c.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
7g.143350581T>GCA369653149CLCN1c.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
7g.143350582T>ACA369653151CLCN1c.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
7g.143350582T>CCA458288646CLCN1c.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
7g.143350582T>GCA369653152CLCN1c.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
7g.143350583T>ACA369653153CLCN1c.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
7g.143350583T>CCA369653154CLCN1c.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
7g.143350583T>GCA369653155CLCN1c.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
7g.143350584C>ACA369653156CLCN1c.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
7g.143350584C=CA1748897728CLCN1c.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=
7g.143350584C>GCA369653157CLCN1c.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
7g.143350584C>TCA168230655CLCN1c.2525C>T (p.Ser842Leu)
c.2349C>T
n.2465C>T
c.2549C>T (p.Ser850Leu)
c.1271C>T (p.Ser424Leu)
c.2099C>T (p.Ser700Leu)
c.2075C>T (p.Ser692Leu)
n.2480C>T
 dbSNP COSMIC
7g.143350585A>CCA458288667CLCN1c.2526A>C (p.Ser842=)
c.2350A>C
n.2466A>C
c.2550A>C (p.Ser850=)
c.1272A>C (p.Ser424=)
c.2100A>C (p.Ser700=)
c.2076A>C (p.Ser692=)
n.2481A>C
7g.143350585A>GCA458288664CLCN1c.2526A>G (p.Ser842=)
c.2350A>G
n.2466A>G
c.2550A>G (p.Ser850=)
c.1272A>G (p.Ser424=)
c.2100A>G (p.Ser700=)
c.2076A>G (p.Ser692=)
n.2481A>G
 ClinVar gnomAD v4
7g.143350585A>TCA458288663CLCN1c.2526A>T (p.Ser842=)
c.2350A>T
n.2466A>T
c.2550A>T (p.Ser850=)
c.1272A>T (p.Ser424=)
c.2100A>T (p.Ser700=)
c.2076A>T (p.Ser692=)
n.2481A>T
7g.143350586C>ACA369653158CLCN1c.2527C>A (p.Leu843Ile)
c.2351C>A
n.2467C>A
c.2551C>A (p.Leu851Ile)
c.1273C>A (p.Leu425Ile)
c.2101C>A (p.Leu701Ile)
c.2077C>A (p.Leu693Ile)
n.2482C>A
7g.143350586C=CA1748897729CLCN1c.2527C= (p.Leu843=)
c.2351C=
n.2467C=
c.2551C= (p.Leu851=)
c.1273C= (p.Leu425=)
c.2101C= (p.Leu701=)
c.2077C= (p.Leu693=)
n.2482C=
7g.143350586C>GCA369653159CLCN1c.2527C>G (p.Leu843Val)
c.2351C>G
n.2467C>G
c.2551C>G (p.Leu851Val)
c.1273C>G (p.Leu425Val)
c.2101C>G (p.Leu701Val)
c.2077C>G (p.Leu693Val)
n.2482C>G
 dbSNP gnomAD v2 gnomAD v4
7g.143350586C>TCA369653160CLCN1c.2527C>T (p.Leu843Phe)
c.2351C>T
n.2467C>T
c.2551C>T (p.Leu851Phe)
c.1273C>T (p.Leu425Phe)
c.2101C>T (p.Leu701Phe)
c.2077C>T (p.Leu693Phe)
n.2482C>T
7g.143350587T>ACA369653162CLCN1c.2528T>A (p.Leu843His)
c.2352T>A
n.2468T>A
c.2552T>A (p.Leu851His)
c.1274T>A (p.Leu425His)
c.2102T>A (p.Leu701His)
c.2078T>A (p.Leu693His)
n.2483T>A
7g.143350587T>CCA369653163CLCN1c.2528T>C (p.Leu843Pro)
c.2352T>C
n.2468T>C
c.2552T>C (p.Leu851Pro)
c.1274T>C (p.Leu425Pro)
c.2102T>C (p.Leu701Pro)
c.2078T>C (p.Leu693Pro)
n.2483T>C
 ClinVar dbSNP
7g.143350587T>GCA369653161CLCN1c.2528T>G (p.Leu843Arg)
c.2352T>G
n.2468T>G
c.2552T>G (p.Leu851Arg)
c.1274T>G (p.Leu425Arg)
c.2102T>G (p.Leu701Arg)
c.2078T>G (p.Leu693Arg)
n.2483T>G
7g.143350587T=CA1748897730CLCN1c.2528T= (p.Leu843=)
c.2352T=
n.2468T=
c.2552T= (p.Leu851=)
c.1274T= (p.Leu425=)
c.2102T= (p.Leu701=)
c.2078T= (p.Leu693=)
n.2483T=
7g.143350588C>ACA458288681CLCN1c.2529C>A (p.Leu843=)
c.2353C>A
n.2469C>A
c.2553C>A (p.Leu851=)
c.1275C>A (p.Leu425=)
c.2103C>A (p.Leu701=)
c.2079C>A (p.Leu693=)
n.2484C>A
7g.143350588C>GCA458288683CLCN1c.2529C>G (p.Leu843=)
c.2353C>G
n.2469C>G
c.2553C>G (p.Leu851=)
c.1275C>G (p.Leu425=)
c.2103C>G (p.Leu701=)
c.2079C>G (p.Leu693=)
n.2484C>G
7g.143350588C>TCA458288685CLCN1c.2529C>T (p.Leu843=)
c.2353C>T
n.2469C>T
c.2553C>T (p.Leu851=)
c.1275C>T (p.Leu425=)
c.2103C>T (p.Leu701=)
c.2079C>T (p.Leu693=)
n.2484C>T
7g.143350588_143350591delinsCCTTCA1748897731CLCN1c.2529_2532delinsCCTT (p.Leu843=)
c.2353_2356delinsCCTT
n.2469_2472delinsCCTT
c.2553_2556delinsCCTT (p.Leu851=)
c.1275_1278delinsCCTT (p.Leu425=)
c.2103_2106delinsCCTT (p.Leu701=)
c.2079_2082delinsCCTT (p.Leu693=)
n.2484_2487delinsCCTT

Number of alleles fetched