Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51944234_51944243delinsTGACCCTGGGCA2091564059ATP7Bc.*894-1689_*894-1680delinsCCCAGGGTCA (n.*894-1689_*894-1680delinsCCCAGGGTCA)
c.*1853_*1862delinsCCCAGGGTCA (n.*1853_*1862delinsCCCAGGGTCA)
c.2488_2497delinsCCCAGGGTCA (p.Pro830=)
c.3109_3118delinsCCCAGGGTCA (p.Pro1037=)
c.2776_2785delinsCCCAGGGTCA (p.Pro926=)
c.2857_2866delinsCCCAGGGTCA (p.Pro953=)
c.2875_2884delinsCCCAGGGTCA (p.Pro959=)
n.3248_3257delinsCCCAGGGTCA
n.3472_3481delinsCCCAGGGTCA
c.2044_2053delinsCCCAGGGTCA (p.Pro682=)
c.1819_1828delinsCCCAGGGTCA (p.Pro607=)
c.2914_2923delinsCCCAGGGTCA (p.Pro972=)
n.329_338delinsCCCAGGGTCA
c.1022-1689_1022-1680delinsCCCAGGGTCA
c.*210_*219delinsCCCAGGGTCA (n.*210_*219delinsCCCAGGGTCA)
n.3853_3862delinsCCCAGGGTCA
n.2454_2463delinsCCCAGGGTCA
c.2965_2974delinsCCCAGGGTCA (p.Pro989=)
n.455_464delinsCCCAGGGTCA
c.3013_3022delinsCCCAGGGTCA (p.Pro1005=)
c.3073_3082delinsCCCAGGGTCA (p.Pro1025=)
c.2623_2632delinsCCCAGGGTCA (p.Pro875=)
c.925_934delinsCCCAGGGTCA (p.Pro309=)
c.877-1689_877-1680delinsCCCAGGGTCA (n.877-1689_877-1680delinsCCCAGGGTCA)
c.2974_2983delinsCCCAGGGTCA (p.Pro992=)
c.3061-1689_3061-1680delinsCCCAGGGTCA (n.3061-1689_3061-1680delinsCCCAGGGTCA)
c.2695_2704delinsCCCAGGGTCA (p.Pro899=)
c.2731-1689_2731-1680delinsCCCAGGGTCA (n.2731-1689_2731-1680delinsCCCAGGGTCA)
c.1777_1786delinsCCCAGGGTCA (p.Pro593=)
n.3328_3337delinsCCCAGGGTCA
13g.51944238_51944246delCA610425797ATP7Bc.*894-1689_*894-1681del (n.*894-1689_*894-1681del)
c.*1853_*1861del (n.*1853_*1861del)
c.2488_2496del (p.Pro830_Val832del)
c.3109_3117del (p.Pro1037_Val1039del)
c.2776_2784del (p.Pro926_Val928del)
c.2857_2865del (p.Pro953_Val955del)
c.2875_2883del (p.Pro959_Val961del)
n.3248_3256del
n.3472_3480del
c.2044_2052del (p.Pro682_Val684del)
c.1819_1827del (p.Pro607_Val609del)
c.2914_2922del (p.Pro972_Val974del)
n.329_337del
c.1022-1689_1022-1681del
c.*210_*218del (n.*210_*218del)
n.3853_3861del
n.2454_2462del
c.2965_2973del (p.Pro989_Val991del)
n.455_463del
c.3013_3021del (p.Pro1005_Val1007del)
c.3073_3081del (p.Pro1025_Val1027del)
c.2623_2631del (p.Pro875_Val877del)
c.925_933del (p.Pro309_Val311del)
c.877-1689_877-1681del (n.877-1689_877-1681del)
c.2974_2982del (p.Pro992_Val994del)
c.3061-1689_3061-1681del (n.3061-1689_3061-1681del)
c.2695_2703del (p.Pro899_Val901del)
c.2731-1689_2731-1681del (n.2731-1689_2731-1681del)
c.1777_1785del (p.Pro593_Val595del)
n.3328_3336del
 dbSNP gnomAD v2 gnomAD v4
13g.51944239delCA2695218747ATP7Bc.*894-1683del (n.*894-1683del)
c.*1859del (n.*1859del)
c.2494del (p.Val832SerfsTer?)
c.3115del (p.Val1039SerfsTer?)
c.2782del (p.Val928SerfsTer?)
c.2863del (p.Val955SerfsTer?)
c.2881del (p.Val961SerfsTer?)
n.3254del
n.3478del
c.2050del (p.Val684SerfsTer?)
c.1825del (p.Val609SerfsTer?)
c.2920del (p.Val974SerfsTer?)
n.335del
c.1022-1683del
c.*216del (n.*216del)
n.3859del
n.2460del
c.2971del (p.Val991SerfsTer?)
n.461del
c.3019del (p.Val1007SerfsTer?)
c.3079del (p.Val1027SerfsTer?)
c.2629del (p.Val877SerfsTer?)
c.931del (p.Val311SerfsTer?)
c.877-1683del (n.877-1683del)
c.2980del (p.Val994SerfsTer?)
c.3061-1683del (n.3061-1683del)
c.2701del (p.Val901SerfsTer?)
c.2731-1683del (n.2731-1683del)
c.1783del (p.Val595SerfsTer?)
n.3334del
13g.51944237_51944253delCA2575420443ATP7Bc.*894-1699_*894-1683del (n.*894-1699_*894-1683del)
c.*1843_*1859del (n.*1843_*1859del)
c.2478_2494del (p.Gly828AlafsTer28)
c.3099_3115del (p.Gly1035AlafsTer28)
c.2766_2782del (p.Gly924AlafsTer28)
c.2847_2863del (p.Gly951AlafsTer28)
c.2865_2881del (p.Gly957AlafsTer28)
n.3238_3254del
n.3462_3478del
c.2034_2050del (p.Gly680AlafsTer28)
c.1809_1825del (p.Gly605AlafsTer28)
c.2904_2920del (p.Gly970AlafsTer28)
n.319_335del
c.1022-1699_1022-1683del
c.*200_*216del (n.*200_*216del)
n.3843_3859del
n.2444_2460del
c.2955_2971del (p.Gly987AlafsTer28)
n.445_461del
c.3003_3019del (p.Gly1003AlafsTer28)
c.3063_3079del (p.Gly1023AlafsTer28)
c.2613_2629del (p.Gly873AlafsTer28)
c.915_931del (p.Gly307AlafsTer28)
c.877-1699_877-1683del (n.877-1699_877-1683del)
c.2964_2980del (p.Gly990AlafsTer28)
c.3061-1699_3061-1683del (n.3061-1699_3061-1683del)
c.2685_2701del (p.Gly897AlafsTer28)
c.2731-1699_2731-1683del (n.2731-1699_2731-1683del)
c.1767_1783del (p.Gly591AlafsTer28)
n.3318_3334del
13g.51944238C>ACA388030361ATP7Bc.*894-1684G>T (n.*894-1684G>T)
c.*1858G>T (n.*1858G>T)
c.2493G>T (p.Arg831Ser)
c.3114G>T (p.Arg1038Ser)
c.2781G>T (p.Arg927Ser)
c.2862G>T (p.Arg954Ser)
c.2880G>T (p.Arg960Ser)
n.3253G>T
n.3477G>T
c.2049G>T (p.Arg683Ser)
c.1824G>T (p.Arg608Ser)
c.2919G>T (p.Arg973Ser)
n.334G>T
c.1022-1684G>T
c.*215G>T (n.*215G>T)
n.3858G>T
n.2459G>T
c.2970G>T (p.Arg990Ser)
n.460G>T
c.3018G>T (p.Arg1006Ser)
c.3078G>T (p.Arg1026Ser)
c.2628G>T (p.Arg876Ser)
c.930G>T (p.Arg310Ser)
c.877-1684G>T (n.877-1684G>T)
c.2979G>T (p.Arg993Ser)
c.3061-1684G>T (n.3061-1684G>T)
c.2700G>T (p.Arg900Ser)
c.2731-1684G>T (n.2731-1684G>T)
c.1782G>T (p.Arg594Ser)
n.3333G>T
13g.51944238C=CA2091564071ATP7Bc.*894-1684G= (n.*894-1684G=)
c.*1858G= (n.*1858G=)
c.2493G= (p.Arg831=)
c.3114G= (p.Arg1038=)
c.2781G= (p.Arg927=)
c.2862G= (p.Arg954=)
c.2880G= (p.Arg960=)
n.3253G=
n.3477G=
c.2049G= (p.Arg683=)
c.1824G= (p.Arg608=)
c.2919G= (p.Arg973=)
n.334G=
c.1022-1684G=
c.*215G= (n.*215G=)
n.3858G=
n.2459G=
c.2970G= (p.Arg990=)
n.460G=
c.3018G= (p.Arg1006=)
c.3078G= (p.Arg1026=)
c.2628G= (p.Arg876=)
c.930G= (p.Arg310=)
c.877-1684G= (n.877-1684G=)
c.2979G= (p.Arg993=)
c.3061-1684G= (n.3061-1684G=)
c.2700G= (p.Arg900=)
c.2731-1684G= (n.2731-1684G=)
c.1782G= (p.Arg594=)
n.3333G=
13g.51944238C>GCA388030363ATP7Bc.*894-1684G>C (n.*894-1684G>C)
c.*1858G>C (n.*1858G>C)
c.2493G>C (p.Arg831Ser)
c.3114G>C (p.Arg1038Ser)
c.2781G>C (p.Arg927Ser)
c.2862G>C (p.Arg954Ser)
c.2880G>C (p.Arg960Ser)
n.3253G>C
n.3477G>C
c.2049G>C (p.Arg683Ser)
c.1824G>C (p.Arg608Ser)
c.2919G>C (p.Arg973Ser)
n.334G>C
c.1022-1684G>C
c.*215G>C (n.*215G>C)
n.3858G>C
n.2459G>C
c.2970G>C (p.Arg990Ser)
n.460G>C
c.3018G>C (p.Arg1006Ser)
c.3078G>C (p.Arg1026Ser)
c.2628G>C (p.Arg876Ser)
c.930G>C (p.Arg310Ser)
c.877-1684G>C (n.877-1684G>C)
c.2979G>C (p.Arg993Ser)
c.3061-1684G>C (n.3061-1684G>C)
c.2700G>C (p.Arg900Ser)
c.2731-1684G>C (n.2731-1684G>C)
c.1782G>C (p.Arg594Ser)
n.3333G>C
13g.51944238C>TCA6988804ATP7Bc.*894-1684G>A (n.*894-1684G>A)
c.*1858G>A (n.*1858G>A)
c.2493G>A (p.Arg831=)
c.3114G>A (p.Arg1038=)
c.2781G>A (p.Arg927=)
c.2862G>A (p.Arg954=)
c.2880G>A (p.Arg960=)
n.3253G>A
n.3477G>A
c.2049G>A (p.Arg683=)
c.1824G>A (p.Arg608=)
c.2919G>A (p.Arg973=)
n.334G>A
c.1022-1684G>A
c.*215G>A (n.*215G>A)
n.3858G>A
n.2459G>A
c.2970G>A (p.Arg990=)
n.460G>A
c.3018G>A (p.Arg1006=)
c.3078G>A (p.Arg1026=)
c.2628G>A (p.Arg876=)
c.930G>A (p.Arg310=)
c.877-1684G>A (n.877-1684G>A)
c.2979G>A (p.Arg993=)
c.3061-1684G>A (n.3061-1684G>A)
c.2700G>A (p.Arg900=)
c.2731-1684G>A (n.2731-1684G>A)
c.1782G>A (p.Arg594=)
n.3333G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944239C>ACA388030373ATP7Bc.*894-1685G>T (n.*894-1685G>T)
c.*1857G>T (n.*1857G>T)
c.2492G>T (p.Arg831Met)
c.3113G>T (p.Arg1038Met)
c.2780G>T (p.Arg927Met)
c.2861G>T (p.Arg954Met)
c.2879G>T (p.Arg960Met)
n.3252G>T
n.3476G>T
c.2048G>T (p.Arg683Met)
c.1823G>T (p.Arg608Met)
c.2918G>T (p.Arg973Met)
n.333G>T
c.1022-1685G>T
c.*214G>T (n.*214G>T)
n.3857G>T
n.2458G>T
c.2969G>T (p.Arg990Met)
n.459G>T
c.3017G>T (p.Arg1006Met)
c.3077G>T (p.Arg1026Met)
c.2627G>T (p.Arg876Met)
c.929G>T (p.Arg310Met)
c.877-1685G>T (n.877-1685G>T)
c.2978G>T (p.Arg993Met)
c.3061-1685G>T (n.3061-1685G>T)
c.2699G>T (p.Arg900Met)
c.2731-1685G>T (n.2731-1685G>T)
c.1781G>T (p.Arg594Met)
n.3332G>T
13g.51944239C=CA2091564075ATP7Bc.*894-1685G= (n.*894-1685G=)
c.*1857G= (n.*1857G=)
c.2492G= (p.Arg831=)
c.3113G= (p.Arg1038=)
c.2780G= (p.Arg927=)
c.2861G= (p.Arg954=)
c.2879G= (p.Arg960=)
n.3252G=
n.3476G=
c.2048G= (p.Arg683=)
c.1823G= (p.Arg608=)
c.2918G= (p.Arg973=)
n.333G=
c.1022-1685G=
c.*214G= (n.*214G=)
n.3857G=
n.2458G=
c.2969G= (p.Arg990=)
n.459G=
c.3017G= (p.Arg1006=)
c.3077G= (p.Arg1026=)
c.2627G= (p.Arg876=)
c.929G= (p.Arg310=)
c.877-1685G= (n.877-1685G=)
c.2978G= (p.Arg993=)
c.3061-1685G= (n.3061-1685G=)
c.2699G= (p.Arg900=)
c.2731-1685G= (n.2731-1685G=)
c.1781G= (p.Arg594=)
n.3332G=
13g.51944239C>GCA250080239ATP7Bc.*894-1685G>C (n.*894-1685G>C)
c.*1857G>C (n.*1857G>C)
c.2492G>C (p.Arg831Thr)
c.3113G>C (p.Arg1038Thr)
c.2780G>C (p.Arg927Thr)
c.2861G>C (p.Arg954Thr)
c.2879G>C (p.Arg960Thr)
n.3252G>C
n.3476G>C
c.2048G>C (p.Arg683Thr)
c.1823G>C (p.Arg608Thr)
c.2918G>C (p.Arg973Thr)
n.333G>C
c.1022-1685G>C
c.*214G>C (n.*214G>C)
n.3857G>C
n.2458G>C
c.2969G>C (p.Arg990Thr)
n.459G>C
c.3017G>C (p.Arg1006Thr)
c.3077G>C (p.Arg1026Thr)
c.2627G>C (p.Arg876Thr)
c.929G>C (p.Arg310Thr)
c.877-1685G>C (n.877-1685G>C)
c.2978G>C (p.Arg993Thr)
c.3061-1685G>C (n.3061-1685G>C)
c.2699G>C (p.Arg900Thr)
c.2731-1685G>C (n.2731-1685G>C)
c.1781G>C (p.Arg594Thr)
n.3332G>C
 dbSNP gnomAD v4
13g.51944239C>TCA6988805ATP7Bc.*894-1685G>A (n.*894-1685G>A)
c.*1857G>A (n.*1857G>A)
c.2492G>A (p.Arg831Lys)
c.3113G>A (p.Arg1038Lys)
c.2780G>A (p.Arg927Lys)
c.2861G>A (p.Arg954Lys)
c.2879G>A (p.Arg960Lys)
n.3252G>A
n.3476G>A
c.2048G>A (p.Arg683Lys)
c.1823G>A (p.Arg608Lys)
c.2918G>A (p.Arg973Lys)
n.333G>A
c.1022-1685G>A
c.*214G>A (n.*214G>A)
n.3857G>A
n.2458G>A
c.2969G>A (p.Arg990Lys)
n.459G>A
c.3017G>A (p.Arg1006Lys)
c.3077G>A (p.Arg1026Lys)
c.2627G>A (p.Arg876Lys)
c.929G>A (p.Arg310Lys)
c.877-1685G>A (n.877-1685G>A)
c.2978G>A (p.Arg993Lys)
c.3061-1685G>A (n.3061-1685G>A)
c.2699G>A (p.Arg900Lys)
c.2731-1685G>A (n.2731-1685G>A)
c.1781G>A (p.Arg594Lys)
n.3332G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944240T>ACA388030378ATP7Bc.*894-1686A>T (n.*894-1686A>T)
c.*1856A>T (n.*1856A>T)
c.2491A>T (p.Arg831Trp)
c.3112A>T (p.Arg1038Trp)
c.2779A>T (p.Arg927Trp)
c.2860A>T (p.Arg954Trp)
c.2878A>T (p.Arg960Trp)
n.3251A>T
n.3475A>T
c.2047A>T (p.Arg683Trp)
c.1822A>T (p.Arg608Trp)
c.2917A>T (p.Arg973Trp)
n.332A>T
c.1022-1686A>T
c.*213A>T (n.*213A>T)
n.3856A>T
n.2457A>T
c.2968A>T (p.Arg990Trp)
n.458A>T
c.3016A>T (p.Arg1006Trp)
c.3076A>T (p.Arg1026Trp)
c.2626A>T (p.Arg876Trp)
c.928A>T (p.Arg310Trp)
c.877-1686A>T (n.877-1686A>T)
c.2977A>T (p.Arg993Trp)
c.3061-1686A>T (n.3061-1686A>T)
c.2698A>T (p.Arg900Trp)
c.2731-1686A>T (n.2731-1686A>T)
c.1780A>T (p.Arg594Trp)
n.3331A>T
13g.51944240T>CCA388030387ATP7Bc.*894-1686A>G (n.*894-1686A>G)
c.*1856A>G (n.*1856A>G)
c.2491A>G (p.Arg831Gly)
c.3112A>G (p.Arg1038Gly)
c.2779A>G (p.Arg927Gly)
c.2860A>G (p.Arg954Gly)
c.2878A>G (p.Arg960Gly)
n.3251A>G
n.3475A>G
c.2047A>G (p.Arg683Gly)
c.1822A>G (p.Arg608Gly)
c.2917A>G (p.Arg973Gly)
n.332A>G
c.1022-1686A>G
c.*213A>G (n.*213A>G)
n.3856A>G
n.2457A>G
c.2968A>G (p.Arg990Gly)
n.458A>G
c.3016A>G (p.Arg1006Gly)
c.3076A>G (p.Arg1026Gly)
c.2626A>G (p.Arg876Gly)
c.928A>G (p.Arg310Gly)
c.877-1686A>G (n.877-1686A>G)
c.2977A>G (p.Arg993Gly)
c.3061-1686A>G (n.3061-1686A>G)
c.2698A>G (p.Arg900Gly)
c.2731-1686A>G (n.2731-1686A>G)
c.1780A>G (p.Arg594Gly)
n.3331A>G
13g.51944240T>GCA483894740ATP7Bc.*894-1686A>C (n.*894-1686A>C)
c.*1856A>C (n.*1856A>C)
c.2491A>C (p.Arg831=)
c.3112A>C (p.Arg1038=)
c.2779A>C (p.Arg927=)
c.2860A>C (p.Arg954=)
c.2878A>C (p.Arg960=)
n.3251A>C
n.3475A>C
c.2047A>C (p.Arg683=)
c.1822A>C (p.Arg608=)
c.2917A>C (p.Arg973=)
n.332A>C
c.1022-1686A>C
c.*213A>C (n.*213A>C)
n.3856A>C
n.2457A>C
c.2968A>C (p.Arg990=)
n.458A>C
c.3016A>C (p.Arg1006=)
c.3076A>C (p.Arg1026=)
c.2626A>C (p.Arg876=)
c.928A>C (p.Arg310=)
c.877-1686A>C (n.877-1686A>C)
c.2977A>C (p.Arg993=)
c.3061-1686A>C (n.3061-1686A>C)
c.2698A>C (p.Arg900=)
c.2731-1686A>C (n.2731-1686A>C)
c.1780A>C (p.Arg594=)
n.3331A>C
 ClinVar dbSNP
13g.51944240T=CA2091564080ATP7Bc.*894-1686A= (n.*894-1686A=)
c.*1856A= (n.*1856A=)
c.2491A= (p.Arg831=)
c.3112A= (p.Arg1038=)
c.2779A= (p.Arg927=)
c.2860A= (p.Arg954=)
c.2878A= (p.Arg960=)
n.3251A=
n.3475A=
c.2047A= (p.Arg683=)
c.1822A= (p.Arg608=)
c.2917A= (p.Arg973=)
n.332A=
c.1022-1686A=
c.*213A= (n.*213A=)
n.3856A=
n.2457A=
c.2968A= (p.Arg990=)
n.458A=
c.3016A= (p.Arg1006=)
c.3076A= (p.Arg1026=)
c.2626A= (p.Arg876=)
c.928A= (p.Arg310=)
c.877-1686A= (n.877-1686A=)
c.2977A= (p.Arg993=)
c.3061-1686A= (n.3061-1686A=)
c.2698A= (p.Arg900=)
c.2731-1686A= (n.2731-1686A=)
c.1780A= (p.Arg594=)
n.3331A=
13g.51944241G>ACA483894741ATP7Bc.*894-1687C>T (n.*894-1687C>T)
c.*1855C>T (n.*1855C>T)
c.2490C>T (p.Pro830=)
c.3111C>T (p.Pro1037=)
c.2778C>T (p.Pro926=)
c.2859C>T (p.Pro953=)
c.2877C>T (p.Pro959=)
n.3250C>T
n.3474C>T
c.2046C>T (p.Pro682=)
c.1821C>T (p.Pro607=)
c.2916C>T (p.Pro972=)
n.331C>T
c.1022-1687C>T
c.*212C>T (n.*212C>T)
n.3855C>T
n.2456C>T
c.2967C>T (p.Pro989=)
n.457C>T
c.3015C>T (p.Pro1005=)
c.3075C>T (p.Pro1025=)
c.2625C>T (p.Pro875=)
c.927C>T (p.Pro309=)
c.877-1687C>T (n.877-1687C>T)
c.2976C>T (p.Pro992=)
c.3061-1687C>T (n.3061-1687C>T)
c.2697C>T (p.Pro899=)
c.2731-1687C>T (n.2731-1687C>T)
c.1779C>T (p.Pro593=)
n.3330C>T
13g.51944241G>CCA483894742ATP7Bc.*894-1687C>G (n.*894-1687C>G)
c.*1855C>G (n.*1855C>G)
c.2490C>G (p.Pro830=)
c.3111C>G (p.Pro1037=)
c.2778C>G (p.Pro926=)
c.2859C>G (p.Pro953=)
c.2877C>G (p.Pro959=)
n.3250C>G
n.3474C>G
c.2046C>G (p.Pro682=)
c.1821C>G (p.Pro607=)
c.2916C>G (p.Pro972=)
n.331C>G
c.1022-1687C>G
c.*212C>G (n.*212C>G)
n.3855C>G
n.2456C>G
c.2967C>G (p.Pro989=)
n.457C>G
c.3015C>G (p.Pro1005=)
c.3075C>G (p.Pro1025=)
c.2625C>G (p.Pro875=)
c.927C>G (p.Pro309=)
c.877-1687C>G (n.877-1687C>G)
c.2976C>G (p.Pro992=)
c.3061-1687C>G (n.3061-1687C>G)
c.2697C>G (p.Pro899=)
c.2731-1687C>G (n.2731-1687C>G)
c.1779C>G (p.Pro593=)
n.3330C>G
13g.51944241G>TCA483894743ATP7Bc.*894-1687C>A (n.*894-1687C>A)
c.*1855C>A (n.*1855C>A)
c.2490C>A (p.Pro830=)
c.3111C>A (p.Pro1037=)
c.2778C>A (p.Pro926=)
c.2859C>A (p.Pro953=)
c.2877C>A (p.Pro959=)
n.3250C>A
n.3474C>A
c.2046C>A (p.Pro682=)
c.1821C>A (p.Pro607=)
c.2916C>A (p.Pro972=)
n.331C>A
c.1022-1687C>A
c.*212C>A (n.*212C>A)
n.3855C>A
n.2456C>A
c.2967C>A (p.Pro989=)
n.457C>A
c.3015C>A (p.Pro1005=)
c.3075C>A (p.Pro1025=)
c.2625C>A (p.Pro875=)
c.927C>A (p.Pro309=)
c.877-1687C>A (n.877-1687C>A)
c.2976C>A (p.Pro992=)
c.3061-1687C>A (n.3061-1687C>A)
c.2697C>A (p.Pro899=)
c.2731-1687C>A (n.2731-1687C>A)
c.1779C>A (p.Pro593=)
n.3330C>A
13g.51944244delCA2580087657ATP7Bc.*894-1687del (n.*894-1687del)
c.*1855del (n.*1855del)
c.2490del (p.Arg831GlyfsTer?)
c.3111del (p.Arg1038GlyfsTer?)
c.2778del (p.Arg927GlyfsTer?)
c.2859del (p.Arg954GlyfsTer?)
c.2877del (p.Arg960GlyfsTer?)
n.3250del
n.3474del
c.2046del (p.Arg683GlyfsTer?)
c.1821del (p.Arg608GlyfsTer?)
c.2916del (p.Arg973GlyfsTer?)
n.331del
c.1022-1687del
c.*212del (n.*212del)
n.3855del
n.2456del
c.2967del (p.Arg990GlyfsTer?)
n.457del
c.3015del (p.Arg1006GlyfsTer?)
c.3075del (p.Arg1026GlyfsTer?)
c.2625del (p.Arg876GlyfsTer?)
c.927del (p.Arg310GlyfsTer?)
c.877-1687del (n.877-1687del)
c.2976del (p.Arg993GlyfsTer?)
c.3061-1687del (n.3061-1687del)
c.2697del (p.Arg900GlyfsTer?)
c.2731-1687del (n.2731-1687del)
c.1779del (p.Arg594GlyfsTer?)
n.3330del
 ClinVar
13g.51944242G>ACA388030388ATP7Bc.*894-1688C>T (n.*894-1688C>T)
c.*1854C>T (n.*1854C>T)
c.2489C>T (p.Pro830Leu)
c.3110C>T (p.Pro1037Leu)
c.2777C>T (p.Pro926Leu)
c.2858C>T (p.Pro953Leu)
c.2876C>T (p.Pro959Leu)
n.3249C>T
n.3473C>T
c.2045C>T (p.Pro682Leu)
c.1820C>T (p.Pro607Leu)
c.2915C>T (p.Pro972Leu)
n.330C>T
c.1022-1688C>T
c.*211C>T (n.*211C>T)
n.3854C>T
n.2455C>T
c.2966C>T (p.Pro989Leu)
n.456C>T
c.3014C>T (p.Pro1005Leu)
c.3074C>T (p.Pro1025Leu)
c.2624C>T (p.Pro875Leu)
c.926C>T (p.Pro309Leu)
c.877-1688C>T (n.877-1688C>T)
c.2975C>T (p.Pro992Leu)
c.3061-1688C>T (n.3061-1688C>T)
c.2696C>T (p.Pro899Leu)
c.2731-1688C>T (n.2731-1688C>T)
c.1778C>T (p.Pro593Leu)
n.3329C>T
13g.51944242G>CCA388030389ATP7Bc.*894-1688C>G (n.*894-1688C>G)
c.*1854C>G (n.*1854C>G)
c.2489C>G (p.Pro830Arg)
c.3110C>G (p.Pro1037Arg)
c.2777C>G (p.Pro926Arg)
c.2858C>G (p.Pro953Arg)
c.2876C>G (p.Pro959Arg)
n.3249C>G
n.3473C>G
c.2045C>G (p.Pro682Arg)
c.1820C>G (p.Pro607Arg)
c.2915C>G (p.Pro972Arg)
n.330C>G
c.1022-1688C>G
c.*211C>G (n.*211C>G)
n.3854C>G
n.2455C>G
c.2966C>G (p.Pro989Arg)
n.456C>G
c.3014C>G (p.Pro1005Arg)
c.3074C>G (p.Pro1025Arg)
c.2624C>G (p.Pro875Arg)
c.926C>G (p.Pro309Arg)
c.877-1688C>G (n.877-1688C>G)
c.2975C>G (p.Pro992Arg)
c.3061-1688C>G (n.3061-1688C>G)
c.2696C>G (p.Pro899Arg)
c.2731-1688C>G (n.2731-1688C>G)
c.1778C>G (p.Pro593Arg)
n.3329C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51944242G=CA2091564084ATP7Bc.*894-1688C= (n.*894-1688C=)
c.*1854C= (n.*1854C=)
c.2489C= (p.Pro830=)
c.3110C= (p.Pro1037=)
c.2777C= (p.Pro926=)
c.2858C= (p.Pro953=)
c.2876C= (p.Pro959=)
n.3249C=
n.3473C=
c.2045C= (p.Pro682=)
c.1820C= (p.Pro607=)
c.2915C= (p.Pro972=)
n.330C=
c.1022-1688C=
c.*211C= (n.*211C=)
n.3854C=
n.2455C=
c.2966C= (p.Pro989=)
n.456C=
c.3014C= (p.Pro1005=)
c.3074C= (p.Pro1025=)
c.2624C= (p.Pro875=)
c.926C= (p.Pro309=)
c.877-1688C= (n.877-1688C=)
c.2975C= (p.Pro992=)
c.3061-1688C= (n.3061-1688C=)
c.2696C= (p.Pro899=)
c.2731-1688C= (n.2731-1688C=)
c.1778C= (p.Pro593=)
n.3329C=
13g.51944242G>TCA388030390ATP7Bc.*894-1688C>A (n.*894-1688C>A)
c.*1854C>A (n.*1854C>A)
c.2489C>A (p.Pro830His)
c.3110C>A (p.Pro1037His)
c.2777C>A (p.Pro926His)
c.2858C>A (p.Pro953His)
c.2876C>A (p.Pro959His)
n.3249C>A
n.3473C>A
c.2045C>A (p.Pro682His)
c.1820C>A (p.Pro607His)
c.2915C>A (p.Pro972His)
n.330C>A
c.1022-1688C>A
c.*211C>A (n.*211C>A)
n.3854C>A
n.2455C>A
c.2966C>A (p.Pro989His)
n.456C>A
c.3014C>A (p.Pro1005His)
c.3074C>A (p.Pro1025His)
c.2624C>A (p.Pro875His)
c.926C>A (p.Pro309His)
c.877-1688C>A (n.877-1688C>A)
c.2975C>A (p.Pro992His)
c.3061-1688C>A (n.3061-1688C>A)
c.2696C>A (p.Pro899His)
c.2731-1688C>A (n.2731-1688C>A)
c.1778C>A (p.Pro593His)
n.3329C>A
13g.51944243G>ACA6988806ATP7Bc.*894-1689C>T (n.*894-1689C>T)
c.*1853C>T (n.*1853C>T)
c.2488C>T (p.Pro830Ser)
c.3109C>T (p.Pro1037Ser)
c.2776C>T (p.Pro926Ser)
c.2857C>T (p.Pro953Ser)
c.2875C>T (p.Pro959Ser)
n.3248C>T
n.3472C>T
c.2044C>T (p.Pro682Ser)
c.1819C>T (p.Pro607Ser)
c.2914C>T (p.Pro972Ser)
n.329C>T
c.1022-1689C>T
c.*210C>T (n.*210C>T)
n.3853C>T
n.2454C>T
c.2965C>T (p.Pro989Ser)
n.455C>T
c.3013C>T (p.Pro1005Ser)
c.3073C>T (p.Pro1025Ser)
c.2623C>T (p.Pro875Ser)
c.925C>T (p.Pro309Ser)
c.877-1689C>T (n.877-1689C>T)
c.2974C>T (p.Pro992Ser)
c.3061-1689C>T (n.3061-1689C>T)
c.2695C>T (p.Pro899Ser)
c.2731-1689C>T (n.2731-1689C>T)
c.1777C>T (p.Pro593Ser)
n.3328C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944243G>CCA250080255ATP7Bc.*894-1689C>G (n.*894-1689C>G)
c.*1853C>G (n.*1853C>G)
c.2488C>G (p.Pro830Ala)
c.3109C>G (p.Pro1037Ala)
c.2776C>G (p.Pro926Ala)
c.2857C>G (p.Pro953Ala)
c.2875C>G (p.Pro959Ala)
n.3248C>G
n.3472C>G
c.2044C>G (p.Pro682Ala)
c.1819C>G (p.Pro607Ala)
c.2914C>G (p.Pro972Ala)
n.329C>G
c.1022-1689C>G
c.*210C>G (n.*210C>G)
n.3853C>G
n.2454C>G
c.2965C>G (p.Pro989Ala)
n.455C>G
c.3013C>G (p.Pro1005Ala)
c.3073C>G (p.Pro1025Ala)
c.2623C>G (p.Pro875Ala)
c.925C>G (p.Pro309Ala)
c.877-1689C>G (n.877-1689C>G)
c.2974C>G (p.Pro992Ala)
c.3061-1689C>G (n.3061-1689C>G)
c.2695C>G (p.Pro899Ala)
c.2731-1689C>G (n.2731-1689C>G)
c.1777C>G (p.Pro593Ala)
n.3328C>G
 dbSNP
13g.51944243G=CA2091564088ATP7Bc.*894-1689C= (n.*894-1689C=)
c.*1853C= (n.*1853C=)
c.2488C= (p.Pro830=)
c.3109C= (p.Pro1037=)
c.2776C= (p.Pro926=)
c.2857C= (p.Pro953=)
c.2875C= (p.Pro959=)
n.3248C=
n.3472C=
c.2044C= (p.Pro682=)
c.1819C= (p.Pro607=)
c.2914C= (p.Pro972=)
n.329C=
c.1022-1689C=
c.*210C= (n.*210C=)
n.3853C=
n.2454C=
c.2965C= (p.Pro989=)
n.455C=
c.3013C= (p.Pro1005=)
c.3073C= (p.Pro1025=)
c.2623C= (p.Pro875=)
c.925C= (p.Pro309=)
c.877-1689C= (n.877-1689C=)
c.2974C= (p.Pro992=)
c.3061-1689C= (n.3061-1689C=)
c.2695C= (p.Pro899=)
c.2731-1689C= (n.2731-1689C=)
c.1777C= (p.Pro593=)
n.3328C=
13g.51944243G>TCA388030393ATP7Bc.*894-1689C>A (n.*894-1689C>A)
c.*1853C>A (n.*1853C>A)
c.2488C>A (p.Pro830Thr)
c.3109C>A (p.Pro1037Thr)
c.2776C>A (p.Pro926Thr)
c.2857C>A (p.Pro953Thr)
c.2875C>A (p.Pro959Thr)
n.3248C>A
n.3472C>A
c.2044C>A (p.Pro682Thr)
c.1819C>A (p.Pro607Thr)
c.2914C>A (p.Pro972Thr)
n.329C>A
c.1022-1689C>A
c.*210C>A (n.*210C>A)
n.3853C>A
n.2454C>A
c.2965C>A (p.Pro989Thr)
n.455C>A
c.3013C>A (p.Pro1005Thr)
c.3073C>A (p.Pro1025Thr)
c.2623C>A (p.Pro875Thr)
c.925C>A (p.Pro309Thr)
c.877-1689C>A (n.877-1689C>A)
c.2974C>A (p.Pro992Thr)
c.3061-1689C>A (n.3061-1689C>A)
c.2695C>A (p.Pro899Thr)
c.2731-1689C>A (n.2731-1689C>A)
c.1777C>A (p.Pro593Thr)
n.3328C>A
13g.51944244G>ACA483894744ATP7Bc.*894-1690C>T (n.*894-1690C>T)
c.*1852C>T (n.*1852C>T)
c.2487C>T (p.Val829=)
c.3108C>T (p.Val1036=)
c.2775C>T (p.Val925=)
c.2856C>T (p.Val952=)
c.2874C>T (p.Val958=)
n.3247C>T
n.3471C>T
c.2043C>T (p.Val681=)
c.1818C>T (p.Val606=)
c.2913C>T (p.Val971=)
n.328C>T
c.1022-1690C>T
c.*209C>T (n.*209C>T)
n.3852C>T
n.2453C>T
c.2964C>T (p.Val988=)
n.454C>T
c.3012C>T (p.Val1004=)
c.3072C>T (p.Val1024=)
c.2622C>T (p.Val874=)
c.924C>T (p.Val308=)
c.877-1690C>T (n.877-1690C>T)
c.2973C>T (p.Val991=)
c.3061-1690C>T (n.3061-1690C>T)
c.2694C>T (p.Val898=)
c.2731-1690C>T (n.2731-1690C>T)
c.1776C>T (p.Val592=)
n.3327C>T
13g.51944244G>CCA483894745ATP7Bc.*894-1690C>G (n.*894-1690C>G)
c.*1852C>G (n.*1852C>G)
c.2487C>G (p.Val829=)
c.3108C>G (p.Val1036=)
c.2775C>G (p.Val925=)
c.2856C>G (p.Val952=)
c.2874C>G (p.Val958=)
n.3247C>G
n.3471C>G
c.2043C>G (p.Val681=)
c.1818C>G (p.Val606=)
c.2913C>G (p.Val971=)
n.328C>G
c.1022-1690C>G
c.*209C>G (n.*209C>G)
n.3852C>G
n.2453C>G
c.2964C>G (p.Val988=)
n.454C>G
c.3012C>G (p.Val1004=)
c.3072C>G (p.Val1024=)
c.2622C>G (p.Val874=)
c.924C>G (p.Val308=)
c.877-1690C>G (n.877-1690C>G)
c.2973C>G (p.Val991=)
c.3061-1690C>G (n.3061-1690C>G)
c.2694C>G (p.Val898=)
c.2731-1690C>G (n.2731-1690C>G)
c.1776C>G (p.Val592=)
n.3327C>G
13g.51944244G=CA2091564094ATP7Bc.*894-1690C= (n.*894-1690C=)
c.*1852C= (n.*1852C=)
c.2487C= (p.Val829=)
c.3108C= (p.Val1036=)
c.2775C= (p.Val925=)
c.2856C= (p.Val952=)
c.2874C= (p.Val958=)
n.3247C=
n.3471C=
c.2043C= (p.Val681=)
c.1818C= (p.Val606=)
c.2913C= (p.Val971=)
n.328C=
c.1022-1690C=
c.*209C= (n.*209C=)
n.3852C=
n.2453C=
c.2964C= (p.Val988=)
n.454C=
c.3012C= (p.Val1004=)
c.3072C= (p.Val1024=)
c.2622C= (p.Val874=)
c.924C= (p.Val308=)
c.877-1690C= (n.877-1690C=)
c.2973C= (p.Val991=)
c.3061-1690C= (n.3061-1690C=)
c.2694C= (p.Val898=)
c.2731-1690C= (n.2731-1690C=)
c.1776C= (p.Val592=)
n.3327C=
13g.51944244G>TCA483894746ATP7Bc.*894-1690C>A (n.*894-1690C>A)
c.*1852C>A (n.*1852C>A)
c.2487C>A (p.Val829=)
c.3108C>A (p.Val1036=)
c.2775C>A (p.Val925=)
c.2856C>A (p.Val952=)
c.2874C>A (p.Val958=)
n.3247C>A
n.3471C>A
c.2043C>A (p.Val681=)
c.1818C>A (p.Val606=)
c.2913C>A (p.Val971=)
n.328C>A
c.1022-1690C>A
c.*209C>A (n.*209C>A)
n.3852C>A
n.2453C>A
c.2964C>A (p.Val988=)
n.454C>A
c.3012C>A (p.Val1004=)
c.3072C>A (p.Val1024=)
c.2622C>A (p.Val874=)
c.924C>A (p.Val308=)
c.877-1690C>A (n.877-1690C>A)
c.2973C>A (p.Val991=)
c.3061-1690C>A (n.3061-1690C>A)
c.2694C>A (p.Val898=)
c.2731-1690C>A (n.2731-1690C>A)
c.1776C>A (p.Val592=)
n.3327C>A
 ClinVar dbSNP gnomAD v4
13g.51944245A=CA2091564102ATP7Bc.*894-1691T= (n.*894-1691T=)
c.*1851T= (n.*1851T=)
c.2486T= (p.Val829=)
c.3107T= (p.Val1036=)
c.2774T= (p.Val925=)
c.2855T= (p.Val952=)
c.2873T= (p.Val958=)
n.3246T=
n.3470T=
c.2042T= (p.Val681=)
c.1817T= (p.Val606=)
c.2912T= (p.Val971=)
n.327T=
c.1022-1691T=
c.*208T= (n.*208T=)
n.3851T=
n.2452T=
c.2963T= (p.Val988=)
n.453T=
c.3011T= (p.Val1004=)
c.3071T= (p.Val1024=)
c.2621T= (p.Val874=)
c.923T= (p.Val308=)
c.877-1691T= (n.877-1691T=)
c.2972T= (p.Val991=)
c.3061-1691T= (n.3061-1691T=)
c.2693T= (p.Val898=)
c.2731-1691T= (n.2731-1691T=)
c.1775T= (p.Val592=)
n.3326T=
13g.51944245A>CCA388030404ATP7Bc.*894-1691T>G (n.*894-1691T>G)
c.*1851T>G (n.*1851T>G)
c.2486T>G (p.Val829Gly)
c.3107T>G (p.Val1036Gly)
c.2774T>G (p.Val925Gly)
c.2855T>G (p.Val952Gly)
c.2873T>G (p.Val958Gly)
n.3246T>G
n.3470T>G
c.2042T>G (p.Val681Gly)
c.1817T>G (p.Val606Gly)
c.2912T>G (p.Val971Gly)
n.327T>G
c.1022-1691T>G
c.*208T>G (n.*208T>G)
n.3851T>G
n.2452T>G
c.2963T>G (p.Val988Gly)
n.453T>G
c.3011T>G (p.Val1004Gly)
c.3071T>G (p.Val1024Gly)
c.2621T>G (p.Val874Gly)
c.923T>G (p.Val308Gly)
c.877-1691T>G (n.877-1691T>G)
c.2972T>G (p.Val991Gly)
c.3061-1691T>G (n.3061-1691T>G)
c.2693T>G (p.Val898Gly)
c.2731-1691T>G (n.2731-1691T>G)
c.1775T>G (p.Val592Gly)
n.3326T>G
13g.51944245A>GCA388030406ATP7Bc.*894-1691T>C (n.*894-1691T>C)
c.*1851T>C (n.*1851T>C)
c.2486T>C (p.Val829Ala)
c.3107T>C (p.Val1036Ala)
c.2774T>C (p.Val925Ala)
c.2855T>C (p.Val952Ala)
c.2873T>C (p.Val958Ala)
n.3246T>C
n.3470T>C
c.2042T>C (p.Val681Ala)
c.1817T>C (p.Val606Ala)
c.2912T>C (p.Val971Ala)
n.327T>C
c.1022-1691T>C
c.*208T>C (n.*208T>C)
n.3851T>C
n.2452T>C
c.2963T>C (p.Val988Ala)
n.453T>C
c.3011T>C (p.Val1004Ala)
c.3071T>C (p.Val1024Ala)
c.2621T>C (p.Val874Ala)
c.923T>C (p.Val308Ala)
c.877-1691T>C (n.877-1691T>C)
c.2972T>C (p.Val991Ala)
c.3061-1691T>C (n.3061-1691T>C)
c.2693T>C (p.Val898Ala)
c.2731-1691T>C (n.2731-1691T>C)
c.1775T>C (p.Val592Ala)
n.3326T>C
13g.51944245A>TCA388030408ATP7Bc.*894-1691T>A (n.*894-1691T>A)
c.*1851T>A (n.*1851T>A)
c.2486T>A (p.Val829Asp)
c.3107T>A (p.Val1036Asp)
c.2774T>A (p.Val925Asp)
c.2855T>A (p.Val952Asp)
c.2873T>A (p.Val958Asp)
n.3246T>A
n.3470T>A
c.2042T>A (p.Val681Asp)
c.1817T>A (p.Val606Asp)
c.2912T>A (p.Val971Asp)
n.327T>A
c.1022-1691T>A
c.*208T>A (n.*208T>A)
n.3851T>A
n.2452T>A
c.2963T>A (p.Val988Asp)
n.453T>A
c.3011T>A (p.Val1004Asp)
c.3071T>A (p.Val1024Asp)
c.2621T>A (p.Val874Asp)
c.923T>A (p.Val308Asp)
c.877-1691T>A (n.877-1691T>A)
c.2972T>A (p.Val991Asp)
c.3061-1691T>A (n.3061-1691T>A)
c.2693T>A (p.Val898Asp)
c.2731-1691T>A (n.2731-1691T>A)
c.1775T>A (p.Val592Asp)
n.3326T>A
 dbSNP gnomAD v2 gnomAD v4
13g.51944245dupCA10605504ATP7Bc.*894-1691dup (n.*894-1691dup)
c.*1851dup (n.*1851dup)
c.2486dup (p.Arg831GlnfsTer?)
c.3107dup (p.Arg1038GlnfsTer?)
c.2774dup (p.Arg927GlnfsTer?)
c.2855dup (p.Arg954GlnfsTer?)
c.2873dup (p.Arg960GlnfsTer?)
n.3246dup
n.3470dup
c.2042dup (p.Arg683GlnfsTer?)
c.1817dup (p.Arg608GlnfsTer?)
c.2912dup (p.Arg973GlnfsTer?)
n.327dup
c.1022-1691dup
c.*208dup (n.*208dup)
n.3851dup
n.2452dup
c.2963dup (p.Arg990GlnfsTer?)
n.453dup
c.3011dup (p.Arg1006GlnfsTer?)
c.3071dup (p.Arg1026GlnfsTer?)
c.2621dup (p.Arg876GlnfsTer?)
c.923dup (p.Arg310GlnfsTer?)
c.877-1691dup (n.877-1691dup)
c.2972dup (p.Arg993GlnfsTer?)
c.3061-1691dup (n.3061-1691dup)
c.2693dup (p.Arg900GlnfsTer?)
c.2731-1691dup (n.2731-1691dup)
c.1775dup (p.Arg594GlnfsTer?)
n.3326dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944246C>ACA388030411ATP7Bc.*894-1692G>T (n.*894-1692G>T)
c.*1850G>T (n.*1850G>T)
c.2485G>T (p.Val829Phe)
c.3106G>T (p.Val1036Phe)
c.2773G>T (p.Val925Phe)
c.2854G>T (p.Val952Phe)
c.2872G>T (p.Val958Phe)
n.3245G>T
n.3469G>T
c.2041G>T (p.Val681Phe)
c.1816G>T (p.Val606Phe)
c.2911G>T (p.Val971Phe)
n.326G>T
c.1022-1692G>T
c.*207G>T (n.*207G>T)
n.3850G>T
n.2451G>T
c.2962G>T (p.Val988Phe)
n.452G>T
c.3010G>T (p.Val1004Phe)
c.3070G>T (p.Val1024Phe)
c.2620G>T (p.Val874Phe)
c.922G>T (p.Val308Phe)
c.877-1692G>T (n.877-1692G>T)
c.2971G>T (p.Val991Phe)
c.3061-1692G>T (n.3061-1692G>T)
c.2692G>T (p.Val898Phe)
c.2731-1692G>T (n.2731-1692G>T)
c.1774G>T (p.Val592Phe)
n.3325G>T
 ClinVar dbSNP gnomAD v4
13g.51944246C=CA2091564110ATP7Bc.*894-1692G= (n.*894-1692G=)
c.*1850G= (n.*1850G=)
c.2485G= (p.Val829=)
c.3106G= (p.Val1036=)
c.2773G= (p.Val925=)
c.2854G= (p.Val952=)
c.2872G= (p.Val958=)
n.3245G=
n.3469G=
c.2041G= (p.Val681=)
c.1816G= (p.Val606=)
c.2911G= (p.Val971=)
n.326G=
c.1022-1692G=
c.*207G= (n.*207G=)
n.3850G=
n.2451G=
c.2962G= (p.Val988=)
n.452G=
c.3010G= (p.Val1004=)
c.3070G= (p.Val1024=)
c.2620G= (p.Val874=)
c.922G= (p.Val308=)
c.877-1692G= (n.877-1692G=)
c.2971G= (p.Val991=)
c.3061-1692G= (n.3061-1692G=)
c.2692G= (p.Val898=)
c.2731-1692G= (n.2731-1692G=)
c.1774G= (p.Val592=)
n.3325G=
13g.51944246C>GCA388030424ATP7Bc.*894-1692G>C (n.*894-1692G>C)
c.*1850G>C (n.*1850G>C)
c.2485G>C (p.Val829Leu)
c.3106G>C (p.Val1036Leu)
c.2773G>C (p.Val925Leu)
c.2854G>C (p.Val952Leu)
c.2872G>C (p.Val958Leu)
n.3245G>C
n.3469G>C
c.2041G>C (p.Val681Leu)
c.1816G>C (p.Val606Leu)
c.2911G>C (p.Val971Leu)
n.326G>C
c.1022-1692G>C
c.*207G>C (n.*207G>C)
n.3850G>C
n.2451G>C
c.2962G>C (p.Val988Leu)
n.452G>C
c.3010G>C (p.Val1004Leu)
c.3070G>C (p.Val1024Leu)
c.2620G>C (p.Val874Leu)
c.922G>C (p.Val308Leu)
c.877-1692G>C (n.877-1692G>C)
c.2971G>C (p.Val991Leu)
c.3061-1692G>C (n.3061-1692G>C)
c.2692G>C (p.Val898Leu)
c.2731-1692G>C (n.2731-1692G>C)
c.1774G>C (p.Val592Leu)
n.3325G>C
13g.51944246C>TCA6988807ATP7Bc.*894-1692G>A (n.*894-1692G>A)
c.*1850G>A (n.*1850G>A)
c.2485G>A (p.Val829Ile)
c.3106G>A (p.Val1036Ile)
c.2773G>A (p.Val925Ile)
c.2854G>A (p.Val952Ile)
c.2872G>A (p.Val958Ile)
n.3245G>A
n.3469G>A
c.2041G>A (p.Val681Ile)
c.1816G>A (p.Val606Ile)
c.2911G>A (p.Val971Ile)
n.326G>A
c.1022-1692G>A
c.*207G>A (n.*207G>A)
n.3850G>A
n.2451G>A
c.2962G>A (p.Val988Ile)
n.452G>A
c.3010G>A (p.Val1004Ile)
c.3070G>A (p.Val1024Ile)
c.2620G>A (p.Val874Ile)
c.922G>A (p.Val308Ile)
c.877-1692G>A (n.877-1692G>A)
c.2971G>A (p.Val991Ile)
c.3061-1692G>A (n.3061-1692G>A)
c.2692G>A (p.Val898Ile)
c.2731-1692G>A (n.2731-1692G>A)
c.1774G>A (p.Val592Ile)
n.3325G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51944247G>ACA6988808ATP7Bc.*894-1693C>T (n.*894-1693C>T)
c.*1849C>T (n.*1849C>T)
c.2484C>T (p.Gly828=)
c.3105C>T (p.Gly1035=)
c.2772C>T (p.Gly924=)
c.2853C>T (p.Gly951=)
c.2871C>T (p.Gly957=)
n.3244C>T
n.3468C>T
c.2040C>T (p.Gly680=)
c.1815C>T (p.Gly605=)
c.2910C>T (p.Gly970=)
n.325C>T
c.1022-1693C>T
c.*206C>T (n.*206C>T)
n.3849C>T
n.2450C>T
c.2961C>T (p.Gly987=)
n.451C>T
c.3009C>T (p.Gly1003=)
c.3069C>T (p.Gly1023=)
c.2619C>T (p.Gly873=)
c.921C>T (p.Gly307=)
c.877-1693C>T (n.877-1693C>T)
c.2970C>T (p.Gly990=)
c.3061-1693C>T (n.3061-1693C>T)
c.2691C>T (p.Gly897=)
c.2731-1693C>T (n.2731-1693C>T)
c.1773C>T (p.Gly591=)
n.3324C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944247G>CCA483894747ATP7Bc.*894-1693C>G (n.*894-1693C>G)
c.*1849C>G (n.*1849C>G)
c.2484C>G (p.Gly828=)
c.3105C>G (p.Gly1035=)
c.2772C>G (p.Gly924=)
c.2853C>G (p.Gly951=)
c.2871C>G (p.Gly957=)
n.3244C>G
n.3468C>G
c.2040C>G (p.Gly680=)
c.1815C>G (p.Gly605=)
c.2910C>G (p.Gly970=)
n.325C>G
c.1022-1693C>G
c.*206C>G (n.*206C>G)
n.3849C>G
n.2450C>G
c.2961C>G (p.Gly987=)
n.451C>G
c.3009C>G (p.Gly1003=)
c.3069C>G (p.Gly1023=)
c.2619C>G (p.Gly873=)
c.921C>G (p.Gly307=)
c.877-1693C>G (n.877-1693C>G)
c.2970C>G (p.Gly990=)
c.3061-1693C>G (n.3061-1693C>G)
c.2691C>G (p.Gly897=)
c.2731-1693C>G (n.2731-1693C>G)
c.1773C>G (p.Gly591=)
n.3324C>G
13g.51944247G=CA2091564117ATP7Bc.*894-1693C= (n.*894-1693C=)
c.*1849C= (n.*1849C=)
c.2484C= (p.Gly828=)
c.3105C= (p.Gly1035=)
c.2772C= (p.Gly924=)
c.2853C= (p.Gly951=)
c.2871C= (p.Gly957=)
n.3244C=
n.3468C=
c.2040C= (p.Gly680=)
c.1815C= (p.Gly605=)
c.2910C= (p.Gly970=)
n.325C=
c.1022-1693C=
c.*206C= (n.*206C=)
n.3849C=
n.2450C=
c.2961C= (p.Gly987=)
n.451C=
c.3009C= (p.Gly1003=)
c.3069C= (p.Gly1023=)
c.2619C= (p.Gly873=)
c.921C= (p.Gly307=)
c.877-1693C= (n.877-1693C=)
c.2970C= (p.Gly990=)
c.3061-1693C= (n.3061-1693C=)
c.2691C= (p.Gly897=)
c.2731-1693C= (n.2731-1693C=)
c.1773C= (p.Gly591=)
n.3324C=
13g.51944247G>TCA483894748ATP7Bc.*894-1693C>A (n.*894-1693C>A)
c.*1849C>A (n.*1849C>A)
c.2484C>A (p.Gly828=)
c.3105C>A (p.Gly1035=)
c.2772C>A (p.Gly924=)
c.2853C>A (p.Gly951=)
c.2871C>A (p.Gly957=)
n.3244C>A
n.3468C>A
c.2040C>A (p.Gly680=)
c.1815C>A (p.Gly605=)
c.2910C>A (p.Gly970=)
n.325C>A
c.1022-1693C>A
c.*206C>A (n.*206C>A)
n.3849C>A
n.2450C>A
c.2961C>A (p.Gly987=)
n.451C>A
c.3009C>A (p.Gly1003=)
c.3069C>A (p.Gly1023=)
c.2619C>A (p.Gly873=)
c.921C>A (p.Gly307=)
c.877-1693C>A (n.877-1693C>A)
c.2970C>A (p.Gly990=)
c.3061-1693C>A (n.3061-1693C>A)
c.2691C>A (p.Gly897=)
c.2731-1693C>A (n.2731-1693C>A)
c.1773C>A (p.Gly591=)
n.3324C>A
 ClinVar dbSNP gnomAD v4
13g.51944247dupCA2695218749ATP7Bc.*894-1693dup (n.*894-1693dup)
c.*1849dup (n.*1849dup)
c.2484dup (p.Val829ArgfsTer?)
c.3105dup (p.Val1036ArgfsTer?)
c.2772dup (p.Val925ArgfsTer?)
c.2853dup (p.Val952ArgfsTer?)
c.2871dup (p.Val958ArgfsTer?)
n.3244dup
n.3468dup
c.2040dup (p.Val681ArgfsTer?)
c.1815dup (p.Val606ArgfsTer?)
c.2910dup (p.Val971ArgfsTer?)
n.325dup
c.1022-1693dup
c.*206dup (n.*206dup)
n.3849dup
n.2450dup
c.2961dup (p.Val988ArgfsTer?)
n.451dup
c.3009dup (p.Val1004ArgfsTer?)
c.3069dup (p.Val1024ArgfsTer?)
c.2619dup (p.Val874ArgfsTer?)
c.921dup (p.Val308ArgfsTer?)
c.877-1693dup (n.877-1693dup)
c.2970dup (p.Val991ArgfsTer?)
c.3061-1693dup (n.3061-1693dup)
c.2691dup (p.Val898ArgfsTer?)
c.2731-1693dup (n.2731-1693dup)
c.1773dup (p.Val592ArgfsTer?)
n.3324dup
13g.51944248C>ACA16041666ATP7Bc.*894-1694G>T (n.*894-1694G>T)
c.*1848G>T (n.*1848G>T)
c.2483G>T (p.Gly828Val)
c.3104G>T (p.Gly1035Val)
c.2771G>T (p.Gly924Val)
c.2852G>T (p.Gly951Val)
c.2870G>T (p.Gly957Val)
n.3243G>T
n.3467G>T
c.2039G>T (p.Gly680Val)
c.1814G>T (p.Gly605Val)
c.2909G>T (p.Gly970Val)
n.324G>T
c.1022-1694G>T
c.*205G>T (n.*205G>T)
n.3848G>T
n.2449G>T
c.2960G>T (p.Gly987Val)
n.450G>T
c.3008G>T (p.Gly1003Val)
c.3068G>T (p.Gly1023Val)
c.2618G>T (p.Gly873Val)
c.920G>T (p.Gly307Val)
c.877-1694G>T (n.877-1694G>T)
c.2969G>T (p.Gly990Val)
c.3061-1694G>T (n.3061-1694G>T)
c.2690G>T (p.Gly897Val)
c.2731-1694G>T (n.2731-1694G>T)
c.1772G>T (p.Gly591Val)
n.3323G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944248C=CA2091564126ATP7Bc.*894-1694G= (n.*894-1694G=)
c.*1848G= (n.*1848G=)
c.2483G= (p.Gly828=)
c.3104G= (p.Gly1035=)
c.2771G= (p.Gly924=)
c.2852G= (p.Gly951=)
c.2870G= (p.Gly957=)
n.3243G=
n.3467G=
c.2039G= (p.Gly680=)
c.1814G= (p.Gly605=)
c.2909G= (p.Gly970=)
n.324G=
c.1022-1694G=
c.*205G= (n.*205G=)
n.3848G=
n.2449G=
c.2960G= (p.Gly987=)
n.450G=
c.3008G= (p.Gly1003=)
c.3068G= (p.Gly1023=)
c.2618G= (p.Gly873=)
c.920G= (p.Gly307=)
c.877-1694G= (n.877-1694G=)
c.2969G= (p.Gly990=)
c.3061-1694G= (n.3061-1694G=)
c.2690G= (p.Gly897=)
c.2731-1694G= (n.2731-1694G=)
c.1772G= (p.Gly591=)
n.3323G=
13g.51944248C>GCA388030434ATP7Bc.*894-1694G>C (n.*894-1694G>C)
c.*1848G>C (n.*1848G>C)
c.2483G>C (p.Gly828Ala)
c.3104G>C (p.Gly1035Ala)
c.2771G>C (p.Gly924Ala)
c.2852G>C (p.Gly951Ala)
c.2870G>C (p.Gly957Ala)
n.3243G>C
n.3467G>C
c.2039G>C (p.Gly680Ala)
c.1814G>C (p.Gly605Ala)
c.2909G>C (p.Gly970Ala)
n.324G>C
c.1022-1694G>C
c.*205G>C (n.*205G>C)
n.3848G>C
n.2449G>C
c.2960G>C (p.Gly987Ala)
n.450G>C
c.3008G>C (p.Gly1003Ala)
c.3068G>C (p.Gly1023Ala)
c.2618G>C (p.Gly873Ala)
c.920G>C (p.Gly307Ala)
c.877-1694G>C (n.877-1694G>C)
c.2969G>C (p.Gly990Ala)
c.3061-1694G>C (n.3061-1694G>C)
c.2690G>C (p.Gly897Ala)
c.2731-1694G>C (n.2731-1694G>C)
c.1772G>C (p.Gly591Ala)
n.3323G>C
13g.51944248C>TCA6988809ATP7Bc.*894-1694G>A (n.*894-1694G>A)
c.*1848G>A (n.*1848G>A)
c.2483G>A (p.Gly828Asp)
c.3104G>A (p.Gly1035Asp)
c.2771G>A (p.Gly924Asp)
c.2852G>A (p.Gly951Asp)
c.2870G>A (p.Gly957Asp)
n.3243G>A
n.3467G>A
c.2039G>A (p.Gly680Asp)
c.1814G>A (p.Gly605Asp)
c.2909G>A (p.Gly970Asp)
n.324G>A
c.1022-1694G>A
c.*205G>A (n.*205G>A)
n.3848G>A
n.2449G>A
c.2960G>A (p.Gly987Asp)
n.450G>A
c.3008G>A (p.Gly1003Asp)
c.3068G>A (p.Gly1023Asp)
c.2618G>A (p.Gly873Asp)
c.920G>A (p.Gly307Asp)
c.877-1694G>A (n.877-1694G>A)
c.2969G>A (p.Gly990Asp)
c.3061-1694G>A (n.3061-1694G>A)
c.2690G>A (p.Gly897Asp)
c.2731-1694G>A (n.2731-1694G>A)
c.1772G>A (p.Gly591Asp)
n.3323G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched