Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51950278_51950280delCA2695218797ATP7Bc.*403_*405del (n.*403_*405del)
c.*1314_*1316del (n.*1314_*1316del)
c.2084_2086del (p.Ile695del)
c.2570_2572del (p.Ile857del)
c.2237_2239del (p.Ile746del)
c.2318_2320del (p.Ile773del)
c.2336_2338del (p.Ile779del)
c.1640_1642del (p.Ile547del)
c.1286-116_1286-114del (n.1286-116_1286-114del)
c.531_533del
n.3368_3370del
n.1915_1917del
c.2426_2428del (p.Ile809del)
n.212-3799_212-3797del
c.2474_2476del (p.Ile825del)
c.2534_2536del (p.Ile845del)
c.386_388del (p.Ile129del)
c.2156_2158del (p.Ile719del)
c.1238_1240del (p.Ile413del)
n.2789_2791del
13g.51950277A=CA2091542258ATP7Bc.*403T= (n.*403T=)
c.*1314T= (n.*1314T=)
c.2084T= (p.Ile695=)
c.2570T= (p.Ile857=)
c.2237T= (p.Ile746=)
c.2318T= (p.Ile773=)
c.2336T= (p.Ile779=)
c.1640T= (p.Ile547=)
c.1286-116T= (n.1286-116T=)
c.531T=
n.3368T=
n.1915T=
c.2426T= (p.Ile809=)
n.212-3799T=
c.2474T= (p.Ile825=)
c.2534T= (p.Ile845=)
c.386T= (p.Ile129=)
c.2156T= (p.Ile719=)
c.1238T= (p.Ile413=)
n.2789T=
13g.51950277A>CCA388015667ATP7Bc.*403T>G (n.*403T>G)
c.*1314T>G (n.*1314T>G)
c.2084T>G (p.Ile695Ser)
c.2570T>G (p.Ile857Ser)
c.2237T>G (p.Ile746Ser)
c.2318T>G (p.Ile773Ser)
c.2336T>G (p.Ile779Ser)
c.1640T>G (p.Ile547Ser)
c.1286-116T>G (n.1286-116T>G)
c.531T>G
n.3368T>G
n.1915T>G
c.2426T>G (p.Ile809Ser)
n.212-3799T>G
c.2474T>G (p.Ile825Ser)
c.2534T>G (p.Ile845Ser)
c.386T>G (p.Ile129Ser)
c.2156T>G (p.Ile719Ser)
c.1238T>G (p.Ile413Ser)
n.2789T>G
13g.51950277A>GCA16606473ATP7Bc.*403T>C (n.*403T>C)
c.*1314T>C (n.*1314T>C)
c.2084T>C (p.Ile695Thr)
c.2570T>C (p.Ile857Thr)
c.2237T>C (p.Ile746Thr)
c.2318T>C (p.Ile773Thr)
c.2336T>C (p.Ile779Thr)
c.1640T>C (p.Ile547Thr)
c.1286-116T>C (n.1286-116T>C)
c.531T>C
n.3368T>C
n.1915T>C
c.2426T>C (p.Ile809Thr)
n.212-3799T>C
c.2474T>C (p.Ile825Thr)
c.2534T>C (p.Ile845Thr)
c.386T>C (p.Ile129Thr)
c.2156T>C (p.Ile719Thr)
c.1238T>C (p.Ile413Thr)
n.2789T>C
 ClinVar dbSNP gnomAD v4
13g.51950277A>TCA388015673ATP7Bc.*403T>A (n.*403T>A)
c.*1314T>A (n.*1314T>A)
c.2084T>A (p.Ile695Asn)
c.2570T>A (p.Ile857Asn)
c.2237T>A (p.Ile746Asn)
c.2318T>A (p.Ile773Asn)
c.2336T>A (p.Ile779Asn)
c.1640T>A (p.Ile547Asn)
c.1286-116T>A (n.1286-116T>A)
c.531T>A
n.3368T>A
n.1915T>A
c.2426T>A (p.Ile809Asn)
n.212-3799T>A
c.2474T>A (p.Ile825Asn)
c.2534T>A (p.Ile845Asn)
c.386T>A (p.Ile129Asn)
c.2156T>A (p.Ile719Asn)
c.1238T>A (p.Ile413Asn)
n.2789T>A
13g.51950278T>ACA388015681ATP7Bc.*402A>T (n.*402A>T)
c.*1313A>T (n.*1313A>T)
c.2083A>T (p.Ile695Phe)
c.2569A>T (p.Ile857Phe)
c.2236A>T (p.Ile746Phe)
c.2317A>T (p.Ile773Phe)
c.2335A>T (p.Ile779Phe)
c.1639A>T (p.Ile547Phe)
c.1286-117A>T (n.1286-117A>T)
c.530A>T
n.3367A>T
n.1914A>T
c.2425A>T (p.Ile809Phe)
n.212-3800A>T
c.2473A>T (p.Ile825Phe)
c.2533A>T (p.Ile845Phe)
c.385A>T (p.Ile129Phe)
c.2155A>T (p.Ile719Phe)
c.1237A>T (p.Ile413Phe)
n.2788A>T
13g.51950278T>CCA388015688ATP7Bc.*402A>G (n.*402A>G)
c.*1313A>G (n.*1313A>G)
c.2083A>G (p.Ile695Val)
c.2569A>G (p.Ile857Val)
c.2236A>G (p.Ile746Val)
c.2317A>G (p.Ile773Val)
c.2335A>G (p.Ile779Val)
c.1639A>G (p.Ile547Val)
c.1286-117A>G (n.1286-117A>G)
c.530A>G
n.3367A>G
n.1914A>G
c.2425A>G (p.Ile809Val)
n.212-3800A>G
c.2473A>G (p.Ile825Val)
c.2533A>G (p.Ile845Val)
c.385A>G (p.Ile129Val)
c.2155A>G (p.Ile719Val)
c.1237A>G (p.Ile413Val)
n.2788A>G
13g.51950278T>GCA388015691ATP7Bc.*402A>C (n.*402A>C)
c.*1313A>C (n.*1313A>C)
c.2083A>C (p.Ile695Leu)
c.2569A>C (p.Ile857Leu)
c.2236A>C (p.Ile746Leu)
c.2317A>C (p.Ile773Leu)
c.2335A>C (p.Ile779Leu)
c.1639A>C (p.Ile547Leu)
c.1286-117A>C (n.1286-117A>C)
c.530A>C
n.3367A>C
n.1914A>C
c.2425A>C (p.Ile809Leu)
n.212-3800A>C
c.2473A>C (p.Ile825Leu)
c.2533A>C (p.Ile845Leu)
c.385A>C (p.Ile129Leu)
c.2155A>C (p.Ile719Leu)
c.1237A>C (p.Ile413Leu)
n.2788A>C
13g.51950279G>ACA483895728ATP7Bc.*401C>T (n.*401C>T)
c.*1312C>T (n.*1312C>T)
c.2082C>T (p.Leu694=)
c.2568C>T (p.Leu856=)
c.2235C>T (p.Leu745=)
c.2316C>T (p.Leu772=)
c.2334C>T (p.Leu778=)
c.1638C>T (p.Leu546=)
c.1286-118C>T (n.1286-118C>T)
c.529C>T
n.3366C>T
n.1913C>T
c.2424C>T (p.Leu808=)
n.212-3801C>T
c.2472C>T (p.Leu824=)
c.2532C>T (p.Leu844=)
c.384C>T (p.Leu128=)
c.2154C>T (p.Leu718=)
c.1236C>T (p.Leu412=)
n.2787C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950279G>CCA483895729ATP7Bc.*401C>G (n.*401C>G)
c.*1312C>G (n.*1312C>G)
c.2082C>G (p.Leu694=)
c.2568C>G (p.Leu856=)
c.2235C>G (p.Leu745=)
c.2316C>G (p.Leu772=)
c.2334C>G (p.Leu778=)
c.1638C>G (p.Leu546=)
c.1286-118C>G (n.1286-118C>G)
c.529C>G
n.3366C>G
n.1913C>G
c.2424C>G (p.Leu808=)
n.212-3801C>G
c.2472C>G (p.Leu824=)
c.2532C>G (p.Leu844=)
c.384C>G (p.Leu128=)
c.2154C>G (p.Leu718=)
c.1236C>G (p.Leu412=)
n.2787C>G
13g.51950279G=CA2091542260ATP7Bc.*401C= (n.*401C=)
c.*1312C= (n.*1312C=)
c.2082C= (p.Leu694=)
c.2568C= (p.Leu856=)
c.2235C= (p.Leu745=)
c.2316C= (p.Leu772=)
c.2334C= (p.Leu778=)
c.1638C= (p.Leu546=)
c.1286-118C= (n.1286-118C=)
c.529C=
n.3366C=
n.1913C=
c.2424C= (p.Leu808=)
n.212-3801C=
c.2472C= (p.Leu824=)
c.2532C= (p.Leu844=)
c.384C= (p.Leu128=)
c.2154C= (p.Leu718=)
c.1236C= (p.Leu412=)
n.2787C=
13g.51950279G>TCA483895730ATP7Bc.*401C>A (n.*401C>A)
c.*1312C>A (n.*1312C>A)
c.2082C>A (p.Leu694=)
c.2568C>A (p.Leu856=)
c.2235C>A (p.Leu745=)
c.2316C>A (p.Leu772=)
c.2334C>A (p.Leu778=)
c.1638C>A (p.Leu546=)
c.1286-118C>A (n.1286-118C>A)
c.529C>A
n.3366C>A
n.1913C>A
c.2424C>A (p.Leu808=)
n.212-3801C>A
c.2472C>A (p.Leu824=)
c.2532C>A (p.Leu844=)
c.384C>A (p.Leu128=)
c.2154C>A (p.Leu718=)
c.1236C>A (p.Leu412=)
n.2787C>A
13g.51950280A=CA2091542267ATP7Bc.*400T= (n.*400T=)
c.*1311T= (n.*1311T=)
c.2081T= (p.Leu694=)
c.2567T= (p.Leu856=)
c.2234T= (p.Leu745=)
c.2315T= (p.Leu772=)
c.2333T= (p.Leu778=)
c.1637T= (p.Leu546=)
c.1286-119T= (n.1286-119T=)
c.528T=
n.3365T=
n.1912T=
c.2423T= (p.Leu808=)
n.212-3802T=
c.2471T= (p.Leu824=)
c.2531T= (p.Leu844=)
c.383T= (p.Leu128=)
c.2153T= (p.Leu718=)
c.1235T= (p.Leu412=)
n.2786T=
13g.51950280A>CCA388015719ATP7Bc.*400T>G (n.*400T>G)
c.*1311T>G (n.*1311T>G)
c.2081T>G (p.Leu694Arg)
c.2567T>G (p.Leu856Arg)
c.2234T>G (p.Leu745Arg)
c.2315T>G (p.Leu772Arg)
c.2333T>G (p.Leu778Arg)
c.1637T>G (p.Leu546Arg)
c.1286-119T>G (n.1286-119T>G)
c.528T>G
n.3365T>G
n.1912T>G
c.2423T>G (p.Leu808Arg)
n.212-3802T>G
c.2471T>G (p.Leu824Arg)
c.2531T>G (p.Leu844Arg)
c.383T>G (p.Leu128Arg)
c.2153T>G (p.Leu718Arg)
c.1235T>G (p.Leu412Arg)
n.2786T>G
 ClinVar dbSNP
13g.51950280A>GCA388015720ATP7Bc.*400T>C (n.*400T>C)
c.*1311T>C (n.*1311T>C)
c.2081T>C (p.Leu694Pro)
c.2567T>C (p.Leu856Pro)
c.2234T>C (p.Leu745Pro)
c.2315T>C (p.Leu772Pro)
c.2333T>C (p.Leu778Pro)
c.1637T>C (p.Leu546Pro)
c.1286-119T>C (n.1286-119T>C)
c.528T>C
n.3365T>C
n.1912T>C
c.2423T>C (p.Leu808Pro)
n.212-3802T>C
c.2471T>C (p.Leu824Pro)
c.2531T>C (p.Leu844Pro)
c.383T>C (p.Leu128Pro)
c.2153T>C (p.Leu718Pro)
c.1235T>C (p.Leu412Pro)
n.2786T>C
 dbSNP gnomAD v4
13g.51950280A>TCA388015723ATP7Bc.*400T>A (n.*400T>A)
c.*1311T>A (n.*1311T>A)
c.2081T>A (p.Leu694His)
c.2567T>A (p.Leu856His)
c.2234T>A (p.Leu745His)
c.2315T>A (p.Leu772His)
c.2333T>A (p.Leu778His)
c.1637T>A (p.Leu546His)
c.1286-119T>A (n.1286-119T>A)
c.528T>A
n.3365T>A
n.1912T>A
c.2423T>A (p.Leu808His)
n.212-3802T>A
c.2471T>A (p.Leu824His)
c.2531T>A (p.Leu844His)
c.383T>A (p.Leu128His)
c.2153T>A (p.Leu718His)
c.1235T>A (p.Leu412His)
n.2786T>A
13g.51950281G>ACA388015738ATP7Bc.*399C>T (n.*399C>T)
c.*1310C>T (n.*1310C>T)
c.2080C>T (p.Leu694Phe)
c.2566C>T (p.Leu856Phe)
c.2233C>T (p.Leu745Phe)
c.2314C>T (p.Leu772Phe)
c.2332C>T (p.Leu778Phe)
c.1636C>T (p.Leu546Phe)
c.1286-120C>T (n.1286-120C>T)
c.527C>T
n.3364C>T
n.1911C>T
c.2422C>T (p.Leu808Phe)
n.212-3803C>T
c.2470C>T (p.Leu824Phe)
c.2530C>T (p.Leu844Phe)
c.382C>T (p.Leu128Phe)
c.2152C>T (p.Leu718Phe)
c.1234C>T (p.Leu412Phe)
n.2785C>T
 gnomAD v4
13g.51950281G>CCA388015741ATP7Bc.*399C>G (n.*399C>G)
c.*1310C>G (n.*1310C>G)
c.2080C>G (p.Leu694Val)
c.2566C>G (p.Leu856Val)
c.2233C>G (p.Leu745Val)
c.2314C>G (p.Leu772Val)
c.2332C>G (p.Leu778Val)
c.1636C>G (p.Leu546Val)
c.1286-120C>G (n.1286-120C>G)
c.527C>G
n.3364C>G
n.1911C>G
c.2422C>G (p.Leu808Val)
n.212-3803C>G
c.2470C>G (p.Leu824Val)
c.2530C>G (p.Leu844Val)
c.382C>G (p.Leu128Val)
c.2152C>G (p.Leu718Val)
c.1234C>G (p.Leu412Val)
n.2785C>G
13g.51950281G>TCA388015748ATP7Bc.*399C>A (n.*399C>A)
c.*1310C>A (n.*1310C>A)
c.2080C>A (p.Leu694Ile)
c.2566C>A (p.Leu856Ile)
c.2233C>A (p.Leu745Ile)
c.2314C>A (p.Leu772Ile)
c.2332C>A (p.Leu778Ile)
c.1636C>A (p.Leu546Ile)
c.1286-120C>A (n.1286-120C>A)
c.527C>A
n.3364C>A
n.1911C>A
c.2422C>A (p.Leu808Ile)
n.212-3803C>A
c.2470C>A (p.Leu824Ile)
c.2530C>A (p.Leu844Ile)
c.382C>A (p.Leu128Ile)
c.2152C>A (p.Leu718Ile)
c.1234C>A (p.Leu412Ile)
n.2785C>A
13g.51950282G>ACA483895731ATP7Bc.*398C>T (n.*398C>T)
c.*1309C>T (n.*1309C>T)
c.2079C>T (p.Ser693=)
c.2565C>T (p.Ser855=)
c.2232C>T (p.Ser744=)
c.2313C>T (p.Ser771=)
c.2331C>T (p.Ser777=)
c.1635C>T (p.Ser545=)
c.1286-121C>T (n.1286-121C>T)
c.526C>T
n.3363C>T
n.1910C>T
c.2421C>T (p.Ser807=)
n.212-3804C>T
c.2469C>T (p.Ser823=)
c.2529C>T (p.Ser843=)
c.381C>T (p.Ser127=)
c.2151C>T (p.Ser717=)
c.1233C>T (p.Ser411=)
n.2784C>T
13g.51950282G>CCA483895732ATP7Bc.*398C>G (n.*398C>G)
c.*1309C>G (n.*1309C>G)
c.2079C>G (p.Ser693=)
c.2565C>G (p.Ser855=)
c.2232C>G (p.Ser744=)
c.2313C>G (p.Ser771=)
c.2331C>G (p.Ser777=)
c.1635C>G (p.Ser545=)
c.1286-121C>G (n.1286-121C>G)
c.526C>G
n.3363C>G
n.1910C>G
c.2421C>G (p.Ser807=)
n.212-3804C>G
c.2469C>G (p.Ser823=)
c.2529C>G (p.Ser843=)
c.381C>G (p.Ser127=)
c.2151C>G (p.Ser717=)
c.1233C>G (p.Ser411=)
n.2784C>G
 gnomAD v4
13g.51950282G>TCA483895733ATP7Bc.*398C>A (n.*398C>A)
c.*1309C>A (n.*1309C>A)
c.2079C>A (p.Ser693=)
c.2565C>A (p.Ser855=)
c.2232C>A (p.Ser744=)
c.2313C>A (p.Ser771=)
c.2331C>A (p.Ser777=)
c.1635C>A (p.Ser545=)
c.1286-121C>A (n.1286-121C>A)
c.526C>A
n.3363C>A
n.1910C>A
c.2421C>A (p.Ser807=)
n.212-3804C>A
c.2469C>A (p.Ser823=)
c.2529C>A (p.Ser843=)
c.381C>A (p.Ser127=)
c.2151C>A (p.Ser717=)
c.1233C>A (p.Ser411=)
n.2784C>A
13g.51950283G>ACA388015756ATP7Bc.*397C>T (n.*397C>T)
c.*1308C>T (n.*1308C>T)
c.2078C>T (p.Ser693Phe)
c.2564C>T (p.Ser855Phe)
c.2231C>T (p.Ser744Phe)
c.2312C>T (p.Ser771Phe)
c.2330C>T (p.Ser777Phe)
c.1634C>T (p.Ser545Phe)
c.1286-122C>T (n.1286-122C>T)
c.525C>T
n.3362C>T
n.1909C>T
c.2420C>T (p.Ser807Phe)
n.212-3805C>T
c.2468C>T (p.Ser823Phe)
c.2528C>T (p.Ser843Phe)
c.380C>T (p.Ser127Phe)
c.2150C>T (p.Ser717Phe)
c.1232C>T (p.Ser411Phe)
n.2783C>T
13g.51950283G>CCA388015758ATP7Bc.*397C>G (n.*397C>G)
c.*1308C>G (n.*1308C>G)
c.2078C>G (p.Ser693Cys)
c.2564C>G (p.Ser855Cys)
c.2231C>G (p.Ser744Cys)
c.2312C>G (p.Ser771Cys)
c.2330C>G (p.Ser777Cys)
c.1634C>G (p.Ser545Cys)
c.1286-122C>G (n.1286-122C>G)
c.525C>G
n.3362C>G
n.1909C>G
c.2420C>G (p.Ser807Cys)
n.212-3805C>G
c.2468C>G (p.Ser823Cys)
c.2528C>G (p.Ser843Cys)
c.380C>G (p.Ser127Cys)
c.2150C>G (p.Ser717Cys)
c.1232C>G (p.Ser411Cys)
n.2783C>G
13g.51950283G=CA2091542270ATP7Bc.*397C= (n.*397C=)
c.*1308C= (n.*1308C=)
c.2078C= (p.Ser693=)
c.2564C= (p.Ser855=)
c.2231C= (p.Ser744=)
c.2312C= (p.Ser771=)
c.2330C= (p.Ser777=)
c.1634C= (p.Ser545=)
c.1286-122C= (n.1286-122C=)
c.525C=
n.3362C=
n.1909C=
c.2420C= (p.Ser807=)
n.212-3805C=
c.2468C= (p.Ser823=)
c.2528C= (p.Ser843=)
c.380C= (p.Ser127=)
c.2150C= (p.Ser717=)
c.1232C= (p.Ser411=)
n.2783C=
13g.51950283G>TCA6988976ATP7Bc.*397C>A (n.*397C>A)
c.*1308C>A (n.*1308C>A)
c.2078C>A (p.Ser693Tyr)
c.2564C>A (p.Ser855Tyr)
c.2231C>A (p.Ser744Tyr)
c.2312C>A (p.Ser771Tyr)
c.2330C>A (p.Ser777Tyr)
c.1634C>A (p.Ser545Tyr)
c.1286-122C>A (n.1286-122C>A)
c.525C>A
n.3362C>A
n.1909C>A
c.2420C>A (p.Ser807Tyr)
n.212-3805C>A
c.2468C>A (p.Ser823Tyr)
c.2528C>A (p.Ser843Tyr)
c.380C>A (p.Ser127Tyr)
c.2150C>A (p.Ser717Tyr)
c.1232C>A (p.Ser411Tyr)
n.2783C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950284A>CCA388015762ATP7Bc.*396T>G (n.*396T>G)
c.*1307T>G (n.*1307T>G)
c.2077T>G (p.Ser693Ala)
c.2563T>G (p.Ser855Ala)
c.2230T>G (p.Ser744Ala)
c.2311T>G (p.Ser771Ala)
c.2329T>G (p.Ser777Ala)
c.1633T>G (p.Ser545Ala)
c.1286-123T>G (n.1286-123T>G)
c.524T>G
n.3361T>G
n.1908T>G
c.2419T>G (p.Ser807Ala)
n.212-3806T>G
c.2467T>G (p.Ser823Ala)
c.2527T>G (p.Ser843Ala)
c.379T>G (p.Ser127Ala)
c.2149T>G (p.Ser717Ala)
c.1231T>G (p.Ser411Ala)
n.2782T>G
13g.51950284A>GCA388015763ATP7Bc.*396T>C (n.*396T>C)
c.*1307T>C (n.*1307T>C)
c.2077T>C (p.Ser693Pro)
c.2563T>C (p.Ser855Pro)
c.2230T>C (p.Ser744Pro)
c.2311T>C (p.Ser771Pro)
c.2329T>C (p.Ser777Pro)
c.1633T>C (p.Ser545Pro)
c.1286-123T>C (n.1286-123T>C)
c.524T>C
n.3361T>C
n.1908T>C
c.2419T>C (p.Ser807Pro)
n.212-3806T>C
c.2467T>C (p.Ser823Pro)
c.2527T>C (p.Ser843Pro)
c.379T>C (p.Ser127Pro)
c.2149T>C (p.Ser717Pro)
c.1231T>C (p.Ser411Pro)
n.2782T>C
13g.51950284A>TCA388015768ATP7Bc.*396T>A (n.*396T>A)
c.*1307T>A (n.*1307T>A)
c.2077T>A (p.Ser693Thr)
c.2563T>A (p.Ser855Thr)
c.2230T>A (p.Ser744Thr)
c.2311T>A (p.Ser771Thr)
c.2329T>A (p.Ser777Thr)
c.1633T>A (p.Ser545Thr)
c.1286-123T>A (n.1286-123T>A)
c.524T>A
n.3361T>A
n.1908T>A
c.2419T>A (p.Ser807Thr)
n.212-3806T>A
c.2467T>A (p.Ser823Thr)
c.2527T>A (p.Ser843Thr)
c.379T>A (p.Ser127Thr)
c.2149T>A (p.Ser717Thr)
c.1231T>A (p.Ser411Thr)
n.2782T>A
13g.51950285C>ACA388015785ATP7Bc.*395G>T (n.*395G>T)
c.*1306G>T (n.*1306G>T)
c.2076G>T (p.Glu692Asp)
c.2562G>T (p.Glu854Asp)
c.2229G>T (p.Glu743Asp)
c.2310G>T (p.Glu770Asp)
c.2328G>T (p.Glu776Asp)
c.1632G>T (p.Glu544Asp)
c.1286-124G>T (n.1286-124G>T)
c.523G>T
n.3360G>T
n.1907G>T
c.2418G>T (p.Glu806Asp)
n.212-3807G>T
c.2466G>T (p.Glu822Asp)
c.2526G>T (p.Glu842Asp)
c.378G>T (p.Glu126Asp)
c.2148G>T (p.Glu716Asp)
c.1230G>T (p.Glu410Asp)
n.2781G>T
13g.51950285C=CA2091542274ATP7Bc.*395G= (n.*395G=)
c.*1306G= (n.*1306G=)
c.2076G= (p.Glu692=)
c.2562G= (p.Glu854=)
c.2229G= (p.Glu743=)
c.2310G= (p.Glu770=)
c.2328G= (p.Glu776=)
c.1632G= (p.Glu544=)
c.1286-124G= (n.1286-124G=)
c.523G=
n.3360G=
n.1907G=
c.2418G= (p.Glu806=)
n.212-3807G=
c.2466G= (p.Glu822=)
c.2526G= (p.Glu842=)
c.378G= (p.Glu126=)
c.2148G= (p.Glu716=)
c.1230G= (p.Glu410=)
n.2781G=
13g.51950285C>GCA388015789ATP7Bc.*395G>C (n.*395G>C)
c.*1306G>C (n.*1306G>C)
c.2076G>C (p.Glu692Asp)
c.2562G>C (p.Glu854Asp)
c.2229G>C (p.Glu743Asp)
c.2310G>C (p.Glu770Asp)
c.2328G>C (p.Glu776Asp)
c.1632G>C (p.Glu544Asp)
c.1286-124G>C (n.1286-124G>C)
c.523G>C
n.3360G>C
n.1907G>C
c.2418G>C (p.Glu806Asp)
n.212-3807G>C
c.2466G>C (p.Glu822Asp)
c.2526G>C (p.Glu842Asp)
c.378G>C (p.Glu126Asp)
c.2148G>C (p.Glu716Asp)
c.1230G>C (p.Glu410Asp)
n.2781G>C
 dbSNP gnomAD v2
13g.51950285C>TCA250058553ATP7Bc.*395G>A (n.*395G>A)
c.*1306G>A (n.*1306G>A)
c.2076G>A (p.Glu692=)
c.2562G>A (p.Glu854=)
c.2229G>A (p.Glu743=)
c.2310G>A (p.Glu770=)
c.2328G>A (p.Glu776=)
c.1632G>A (p.Glu544=)
c.1286-124G>A (n.1286-124G>A)
c.523G>A
n.3360G>A
n.1907G>A
c.2418G>A (p.Glu806=)
n.212-3807G>A
c.2466G>A (p.Glu822=)
c.2526G>A (p.Glu842=)
c.378G>A (p.Glu126=)
c.2148G>A (p.Glu716=)
c.1230G>A (p.Glu410=)
n.2781G>A
 dbSNP
13g.51950286T>ACA388015796ATP7Bc.*394A>T (n.*394A>T)
c.*1305A>T (n.*1305A>T)
c.2075A>T (p.Glu692Val)
c.2561A>T (p.Glu854Val)
c.2228A>T (p.Glu743Val)
c.2309A>T (p.Glu770Val)
c.2327A>T (p.Glu776Val)
c.1631A>T (p.Glu544Val)
c.1286-125A>T (n.1286-125A>T)
c.522A>T
n.3359A>T
n.1906A>T
c.2417A>T (p.Glu806Val)
n.212-3808A>T
c.2465A>T (p.Glu822Val)
c.2525A>T (p.Glu842Val)
c.377A>T (p.Glu126Val)
c.2147A>T (p.Glu716Val)
c.1229A>T (p.Glu410Val)
n.2780A>T
 dbSNP gnomAD v2 gnomAD v4
13g.51950286T>CCA388015797ATP7Bc.*394A>G (n.*394A>G)
c.*1305A>G (n.*1305A>G)
c.2075A>G (p.Glu692Gly)
c.2561A>G (p.Glu854Gly)
c.2228A>G (p.Glu743Gly)
c.2309A>G (p.Glu770Gly)
c.2327A>G (p.Glu776Gly)
c.1631A>G (p.Glu544Gly)
c.1286-125A>G (n.1286-125A>G)
c.522A>G
n.3359A>G
n.1906A>G
c.2417A>G (p.Glu806Gly)
n.212-3808A>G
c.2465A>G (p.Glu822Gly)
c.2525A>G (p.Glu842Gly)
c.377A>G (p.Glu126Gly)
c.2147A>G (p.Glu716Gly)
c.1229A>G (p.Glu410Gly)
n.2780A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51950286T>GCA388015800ATP7Bc.*394A>C (n.*394A>C)
c.*1305A>C (n.*1305A>C)
c.2075A>C (p.Glu692Ala)
c.2561A>C (p.Glu854Ala)
c.2228A>C (p.Glu743Ala)
c.2309A>C (p.Glu770Ala)
c.2327A>C (p.Glu776Ala)
c.1631A>C (p.Glu544Ala)
c.1286-125A>C (n.1286-125A>C)
c.522A>C
n.3359A>C
n.1906A>C
c.2417A>C (p.Glu806Ala)
n.212-3808A>C
c.2465A>C (p.Glu822Ala)
c.2525A>C (p.Glu842Ala)
c.377A>C (p.Glu126Ala)
c.2147A>C (p.Glu716Ala)
c.1229A>C (p.Glu410Ala)
n.2780A>C
13g.51950286T=CA2091542277ATP7Bc.*394A= (n.*394A=)
c.*1305A= (n.*1305A=)
c.2075A= (p.Glu692=)
c.2561A= (p.Glu854=)
c.2228A= (p.Glu743=)
c.2309A= (p.Glu770=)
c.2327A= (p.Glu776=)
c.1631A= (p.Glu544=)
c.1286-125A= (n.1286-125A=)
c.522A=
n.3359A=
n.1906A=
c.2417A= (p.Glu806=)
n.212-3808A=
c.2465A= (p.Glu822=)
c.2525A= (p.Glu842=)
c.377A= (p.Glu126=)
c.2147A= (p.Glu716=)
c.1229A= (p.Glu410=)
n.2780A=
13g.51950287C>ACA388015804ATP7Bc.*393G>T (n.*393G>T)
c.*1304G>T (n.*1304G>T)
c.2074G>T (p.Glu692Ter)
c.2560G>T (p.Glu854Ter)
c.2227G>T (p.Glu743Ter)
c.2308G>T (p.Glu770Ter)
c.2326G>T (p.Glu776Ter)
c.1630G>T (p.Glu544Ter)
c.1286-126G>T (n.1286-126G>T)
c.521G>T
n.3358G>T
n.1905G>T
c.2416G>T (p.Glu806Ter)
n.212-3809G>T
c.2464G>T (p.Glu822Ter)
c.2524G>T (p.Glu842Ter)
c.376G>T (p.Glu126Ter)
c.2146G>T (p.Glu716Ter)
c.1228G>T (p.Glu410Ter)
n.2779G>T
13g.51950287C>GCA388015807ATP7Bc.*393G>C (n.*393G>C)
c.*1304G>C (n.*1304G>C)
c.2074G>C (p.Glu692Gln)
c.2560G>C (p.Glu854Gln)
c.2227G>C (p.Glu743Gln)
c.2308G>C (p.Glu770Gln)
c.2326G>C (p.Glu776Gln)
c.1630G>C (p.Glu544Gln)
c.1286-126G>C (n.1286-126G>C)
c.521G>C
n.3358G>C
n.1905G>C
c.2416G>C (p.Glu806Gln)
n.212-3809G>C
c.2464G>C (p.Glu822Gln)
c.2524G>C (p.Glu842Gln)
c.376G>C (p.Glu126Gln)
c.2146G>C (p.Glu716Gln)
c.1228G>C (p.Glu410Gln)
n.2779G>C
13g.51950287C>TCA388015829ATP7Bc.*393G>A (n.*393G>A)
c.*1304G>A (n.*1304G>A)
c.2074G>A (p.Glu692Lys)
c.2560G>A (p.Glu854Lys)
c.2227G>A (p.Glu743Lys)
c.2308G>A (p.Glu770Lys)
c.2326G>A (p.Glu776Lys)
c.1630G>A (p.Glu544Lys)
c.1286-126G>A (n.1286-126G>A)
c.521G>A
n.3358G>A
n.1905G>A
c.2416G>A (p.Glu806Lys)
n.212-3809G>A
c.2464G>A (p.Glu822Lys)
c.2524G>A (p.Glu842Lys)
c.376G>A (p.Glu126Lys)
c.2146G>A (p.Glu716Lys)
c.1228G>A (p.Glu410Lys)
n.2779G>A
13g.51950288A>CCA388015841ATP7Bc.*392T>G (n.*392T>G)
c.*1303T>G (n.*1303T>G)
c.2073T>G (p.Asp691Glu)
c.2559T>G (p.Asp853Glu)
c.2226T>G (p.Asp742Glu)
c.2307T>G (p.Asp769Glu)
c.2325T>G (p.Asp775Glu)
c.1629T>G (p.Asp543Glu)
c.1286-127T>G (n.1286-127T>G)
c.520T>G
n.3357T>G
n.1904T>G
c.2415T>G (p.Asp805Glu)
n.212-3810T>G
c.2463T>G (p.Asp821Glu)
c.2523T>G (p.Asp841Glu)
c.375T>G (p.Asp125Glu)
c.2145T>G (p.Asp715Glu)
c.1227T>G (p.Asp409Glu)
n.2778T>G
13g.51950288A>GCA483895734ATP7Bc.*392T>C (n.*392T>C)
c.*1303T>C (n.*1303T>C)
c.2073T>C (p.Asp691=)
c.2559T>C (p.Asp853=)
c.2226T>C (p.Asp742=)
c.2307T>C (p.Asp769=)
c.2325T>C (p.Asp775=)
c.1629T>C (p.Asp543=)
c.1286-127T>C (n.1286-127T>C)
c.520T>C
n.3357T>C
n.1904T>C
c.2415T>C (p.Asp805=)
n.212-3810T>C
c.2463T>C (p.Asp821=)
c.2523T>C (p.Asp841=)
c.375T>C (p.Asp125=)
c.2145T>C (p.Asp715=)
c.1227T>C (p.Asp409=)
n.2778T>C
 ClinVar dbSNP
13g.51950288A>TCA388015834ATP7Bc.*392T>A (n.*392T>A)
c.*1303T>A (n.*1303T>A)
c.2073T>A (p.Asp691Glu)
c.2559T>A (p.Asp853Glu)
c.2226T>A (p.Asp742Glu)
c.2307T>A (p.Asp769Glu)
c.2325T>A (p.Asp775Glu)
c.1629T>A (p.Asp543Glu)
c.1286-127T>A (n.1286-127T>A)
c.520T>A
n.3357T>A
n.1904T>A
c.2415T>A (p.Asp805Glu)
n.212-3810T>A
c.2463T>A (p.Asp821Glu)
c.2523T>A (p.Asp841Glu)
c.375T>A (p.Asp125Glu)
c.2145T>A (p.Asp715Glu)
c.1227T>A (p.Asp409Glu)
n.2778T>A
13g.51950289T>ACA388015846ATP7Bc.*391A>T (n.*391A>T)
c.*1302A>T (n.*1302A>T)
c.2072A>T (p.Asp691Val)
c.2558A>T (p.Asp853Val)
c.2225A>T (p.Asp742Val)
c.2306A>T (p.Asp769Val)
c.2324A>T (p.Asp775Val)
c.1628A>T (p.Asp543Val)
c.1286-128A>T (n.1286-128A>T)
c.519A>T
n.3356A>T
n.1903A>T
c.2414A>T (p.Asp805Val)
n.212-3811A>T
c.2462A>T (p.Asp821Val)
c.2522A>T (p.Asp841Val)
c.374A>T (p.Asp125Val)
c.2144A>T (p.Asp715Val)
c.1226A>T (p.Asp409Val)
n.2777A>T
13g.51950289T>CCA6988977ATP7Bc.*391A>G (n.*391A>G)
c.*1302A>G (n.*1302A>G)
c.2072A>G (p.Asp691Gly)
c.2558A>G (p.Asp853Gly)
c.2225A>G (p.Asp742Gly)
c.2306A>G (p.Asp769Gly)
c.2324A>G (p.Asp775Gly)
c.1628A>G (p.Asp543Gly)
c.1286-128A>G (n.1286-128A>G)
c.519A>G
n.3356A>G
n.1903A>G
c.2414A>G (p.Asp805Gly)
n.212-3811A>G
c.2462A>G (p.Asp821Gly)
c.2522A>G (p.Asp841Gly)
c.374A>G (p.Asp125Gly)
c.2144A>G (p.Asp715Gly)
c.1226A>G (p.Asp409Gly)
n.2777A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950289T>GCA388015847ATP7Bc.*391A>C (n.*391A>C)
c.*1302A>C (n.*1302A>C)
c.2072A>C (p.Asp691Ala)
c.2558A>C (p.Asp853Ala)
c.2225A>C (p.Asp742Ala)
c.2306A>C (p.Asp769Ala)
c.2324A>C (p.Asp775Ala)
c.1628A>C (p.Asp543Ala)
c.1286-128A>C (n.1286-128A>C)
c.519A>C
n.3356A>C
n.1903A>C
c.2414A>C (p.Asp805Ala)
n.212-3811A>C
c.2462A>C (p.Asp821Ala)
c.2522A>C (p.Asp841Ala)
c.374A>C (p.Asp125Ala)
c.2144A>C (p.Asp715Ala)
c.1226A>C (p.Asp409Ala)
n.2777A>C
13g.51950289T=CA2091542284ATP7Bc.*391A= (n.*391A=)
c.*1302A= (n.*1302A=)
c.2072A= (p.Asp691=)
c.2558A= (p.Asp853=)
c.2225A= (p.Asp742=)
c.2306A= (p.Asp769=)
c.2324A= (p.Asp775=)
c.1628A= (p.Asp543=)
c.1286-128A= (n.1286-128A=)
c.519A=
n.3356A=
n.1903A=
c.2414A= (p.Asp805=)
n.212-3811A=
c.2462A= (p.Asp821=)
c.2522A= (p.Asp841=)
c.374A= (p.Asp125=)
c.2144A= (p.Asp715=)
c.1226A= (p.Asp409=)
n.2777A=
13g.51950290C>ACA388015849ATP7Bc.*390G>T (n.*390G>T)
c.*1301G>T (n.*1301G>T)
c.2071G>T (p.Asp691Tyr)
c.2557G>T (p.Asp853Tyr)
c.2224G>T (p.Asp742Tyr)
c.2305G>T (p.Asp769Tyr)
c.2323G>T (p.Asp775Tyr)
c.1627G>T (p.Asp543Tyr)
c.1286-129G>T (n.1286-129G>T)
c.518G>T
n.3355G>T
n.1902G>T
c.2413G>T (p.Asp805Tyr)
n.212-3812G>T
c.2461G>T (p.Asp821Tyr)
c.2521G>T (p.Asp841Tyr)
c.373G>T (p.Asp125Tyr)
c.2143G>T (p.Asp715Tyr)
c.1225G>T (p.Asp409Tyr)
n.2776G>T
13g.51950290C>GCA388015852ATP7Bc.*390G>C (n.*390G>C)
c.*1301G>C (n.*1301G>C)
c.2071G>C (p.Asp691His)
c.2557G>C (p.Asp853His)
c.2224G>C (p.Asp742His)
c.2305G>C (p.Asp769His)
c.2323G>C (p.Asp775His)
c.1627G>C (p.Asp543His)
c.1286-129G>C (n.1286-129G>C)
c.518G>C
n.3355G>C
n.1902G>C
c.2413G>C (p.Asp805His)
n.212-3812G>C
c.2461G>C (p.Asp821His)
c.2521G>C (p.Asp841His)
c.373G>C (p.Asp125His)
c.2143G>C (p.Asp715His)
c.1225G>C (p.Asp409His)
n.2776G>C
13g.51950290C>TCA388015858ATP7Bc.*390G>A (n.*390G>A)
c.*1301G>A (n.*1301G>A)
c.2071G>A (p.Asp691Asn)
c.2557G>A (p.Asp853Asn)
c.2224G>A (p.Asp742Asn)
c.2305G>A (p.Asp769Asn)
c.2323G>A (p.Asp775Asn)
c.1627G>A (p.Asp543Asn)
c.1286-129G>A (n.1286-129G>A)
c.518G>A
n.3355G>A
n.1902G>A
c.2413G>A (p.Asp805Asn)
n.212-3812G>A
c.2461G>A (p.Asp821Asn)
c.2521G>A (p.Asp841Asn)
c.373G>A (p.Asp125Asn)
c.2143G>A (p.Asp715Asn)
c.1225G>A (p.Asp409Asn)
n.2776G>A
13g.51950291A>CCA483895735ATP7Bc.*389T>G (n.*389T>G)
c.*1300T>G (n.*1300T>G)
c.2070T>G (p.Ala690=)
c.2556T>G (p.Ala852=)
c.2223T>G (p.Ala741=)
c.2304T>G (p.Ala768=)
c.2322T>G (p.Ala774=)
c.1626T>G (p.Ala542=)
c.1286-130T>G (n.1286-130T>G)
c.517T>G
n.3354T>G
n.1901T>G
c.2412T>G (p.Ala804=)
n.212-3813T>G
c.2460T>G (p.Ala820=)
c.2520T>G (p.Ala840=)
c.372T>G (p.Ala124=)
c.2142T>G (p.Ala714=)
c.1224T>G (p.Ala408=)
n.2775T>G
13g.51950291A>GCA483895736ATP7Bc.*389T>C (n.*389T>C)
c.*1300T>C (n.*1300T>C)
c.2070T>C (p.Ala690=)
c.2556T>C (p.Ala852=)
c.2223T>C (p.Ala741=)
c.2304T>C (p.Ala768=)
c.2322T>C (p.Ala774=)
c.1626T>C (p.Ala542=)
c.1286-130T>C (n.1286-130T>C)
c.517T>C
n.3354T>C
n.1901T>C
c.2412T>C (p.Ala804=)
n.212-3813T>C
c.2460T>C (p.Ala820=)
c.2520T>C (p.Ala840=)
c.372T>C (p.Ala124=)
c.2142T>C (p.Ala714=)
c.1224T>C (p.Ala408=)
n.2775T>C
13g.51950291A>TCA483895737ATP7Bc.*389T>A (n.*389T>A)
c.*1300T>A (n.*1300T>A)
c.2070T>A (p.Ala690=)
c.2556T>A (p.Ala852=)
c.2223T>A (p.Ala741=)
c.2304T>A (p.Ala768=)
c.2322T>A (p.Ala774=)
c.1626T>A (p.Ala542=)
c.1286-130T>A (n.1286-130T>A)
c.517T>A
n.3354T>A
n.1901T>A
c.2412T>A (p.Ala804=)
n.212-3813T>A
c.2460T>A (p.Ala820=)
c.2520T>A (p.Ala840=)
c.372T>A (p.Ala124=)
c.2142T>A (p.Ala714=)
c.1224T>A (p.Ala408=)
n.2775T>A
13g.51950292G>ACA388015887ATP7Bc.*388C>T (n.*388C>T)
c.*1299C>T (n.*1299C>T)
c.2069C>T (p.Ala690Val)
c.2555C>T (p.Ala852Val)
c.2222C>T (p.Ala741Val)
c.2303C>T (p.Ala768Val)
c.2321C>T (p.Ala774Val)
c.1625C>T (p.Ala542Val)
c.1286-131C>T (n.1286-131C>T)
c.516C>T
n.3353C>T
n.1900C>T
c.2411C>T (p.Ala804Val)
n.212-3814C>T
c.2459C>T (p.Ala820Val)
c.2519C>T (p.Ala840Val)
c.371C>T (p.Ala124Val)
c.2141C>T (p.Ala714Val)
c.1223C>T (p.Ala408Val)
n.2774C>T
13g.51950292G>CCA388015880ATP7Bc.*388C>G (n.*388C>G)
c.*1299C>G (n.*1299C>G)
c.2069C>G (p.Ala690Gly)
c.2555C>G (p.Ala852Gly)
c.2222C>G (p.Ala741Gly)
c.2303C>G (p.Ala768Gly)
c.2321C>G (p.Ala774Gly)
c.1625C>G (p.Ala542Gly)
c.1286-131C>G (n.1286-131C>G)
c.516C>G
n.3353C>G
n.1900C>G
c.2411C>G (p.Ala804Gly)
n.212-3814C>G
c.2459C>G (p.Ala820Gly)
c.2519C>G (p.Ala840Gly)
c.371C>G (p.Ala124Gly)
c.2141C>G (p.Ala714Gly)
c.1223C>G (p.Ala408Gly)
n.2774C>G
13g.51950292G>TCA388015878ATP7Bc.*388C>A (n.*388C>A)
c.*1299C>A (n.*1299C>A)
c.2069C>A (p.Ala690Asp)
c.2555C>A (p.Ala852Asp)
c.2222C>A (p.Ala741Asp)
c.2303C>A (p.Ala768Asp)
c.2321C>A (p.Ala774Asp)
c.1625C>A (p.Ala542Asp)
c.1286-131C>A (n.1286-131C>A)
c.516C>A
n.3353C>A
n.1900C>A
c.2411C>A (p.Ala804Asp)
n.212-3814C>A
c.2459C>A (p.Ala820Asp)
c.2519C>A (p.Ala840Asp)
c.371C>A (p.Ala124Asp)
c.2141C>A (p.Ala714Asp)
c.1223C>A (p.Ala408Asp)
n.2774C>A
13g.51950293C>ACA388015892ATP7Bc.*387G>T (n.*387G>T)
c.*1298G>T (n.*1298G>T)
c.2068G>T (p.Ala690Ser)
c.2554G>T (p.Ala852Ser)
c.2221G>T (p.Ala741Ser)
c.2302G>T (p.Ala768Ser)
c.2320G>T (p.Ala774Ser)
c.1624G>T (p.Ala542Ser)
c.1286-132G>T (n.1286-132G>T)
c.515G>T
n.3352G>T
n.1899G>T
c.2410G>T (p.Ala804Ser)
n.212-3815G>T
c.2458G>T (p.Ala820Ser)
c.2518G>T (p.Ala840Ser)
c.370G>T (p.Ala124Ser)
c.2140G>T (p.Ala714Ser)
c.1222G>T (p.Ala408Ser)
n.2773G>T
13g.51950293C>GCA388015896ATP7Bc.*387G>C (n.*387G>C)
c.*1298G>C (n.*1298G>C)
c.2068G>C (p.Ala690Pro)
c.2554G>C (p.Ala852Pro)
c.2221G>C (p.Ala741Pro)
c.2302G>C (p.Ala768Pro)
c.2320G>C (p.Ala774Pro)
c.1624G>C (p.Ala542Pro)
c.1286-132G>C (n.1286-132G>C)
c.515G>C
n.3352G>C
n.1899G>C
c.2410G>C (p.Ala804Pro)
n.212-3815G>C
c.2458G>C (p.Ala820Pro)
c.2518G>C (p.Ala840Pro)
c.370G>C (p.Ala124Pro)
c.2140G>C (p.Ala714Pro)
c.1222G>C (p.Ala408Pro)
n.2773G>C
13g.51950293C>TCA388015902ATP7Bc.*387G>A (n.*387G>A)
c.*1298G>A (n.*1298G>A)
c.2068G>A (p.Ala690Thr)
c.2554G>A (p.Ala852Thr)
c.2221G>A (p.Ala741Thr)
c.2302G>A (p.Ala768Thr)
c.2320G>A (p.Ala774Thr)
c.1624G>A (p.Ala542Thr)
c.1286-132G>A (n.1286-132G>A)
c.515G>A
n.3352G>A
n.1899G>A
c.2410G>A (p.Ala804Thr)
n.212-3815G>A
c.2458G>A (p.Ala820Thr)
c.2518G>A (p.Ala840Thr)
c.370G>A (p.Ala124Thr)
c.2140G>A (p.Ala714Thr)
c.1222G>A (p.Ala408Thr)
n.2773G>A
13g.51950294C>ACA388015918ATP7Bc.*386G>T (n.*386G>T)
c.*1297G>T (n.*1297G>T)
c.2067G>T (p.Met689Ile)
c.2553G>T (p.Met851Ile)
c.2220G>T (p.Met740Ile)
c.2301G>T (p.Met767Ile)
c.2319G>T (p.Met773Ile)
c.1623G>T (p.Met541Ile)
c.1286-133G>T (n.1286-133G>T)
c.514G>T
n.3351G>T
n.1898G>T
c.2409G>T (p.Met803Ile)
n.212-3816G>T
c.2457G>T (p.Met819Ile)
c.2517G>T (p.Met839Ile)
c.369G>T (p.Met123Ile)
c.2139G>T (p.Met713Ile)
c.1221G>T (p.Met407Ile)
n.2772G>T
13g.51950294C=CA2091542291ATP7Bc.*386G= (n.*386G=)
c.*1297G= (n.*1297G=)
c.2067G= (p.Met689=)
c.2553G= (p.Met851=)
c.2220G= (p.Met740=)
c.2301G= (p.Met767=)
c.2319G= (p.Met773=)
c.1623G= (p.Met541=)
c.1286-133G= (n.1286-133G=)
c.514G=
n.3351G=
n.1898G=
c.2409G= (p.Met803=)
n.212-3816G=
c.2457G= (p.Met819=)
c.2517G= (p.Met839=)
c.369G= (p.Met123=)
c.2139G= (p.Met713=)
c.1221G= (p.Met407=)
n.2772G=
13g.51950294C>GCA388015922ATP7Bc.*386G>C (n.*386G>C)
c.*1297G>C (n.*1297G>C)
c.2067G>C (p.Met689Ile)
c.2553G>C (p.Met851Ile)
c.2220G>C (p.Met740Ile)
c.2301G>C (p.Met767Ile)
c.2319G>C (p.Met773Ile)
c.1623G>C (p.Met541Ile)
c.1286-133G>C (n.1286-133G>C)
c.514G>C
n.3351G>C
n.1898G>C
c.2409G>C (p.Met803Ile)
n.212-3816G>C
c.2457G>C (p.Met819Ile)
c.2517G>C (p.Met839Ile)
c.369G>C (p.Met123Ile)
c.2139G>C (p.Met713Ile)
c.1221G>C (p.Met407Ile)
n.2772G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950294C>TCA388015924ATP7Bc.*386G>A (n.*386G>A)
c.*1297G>A (n.*1297G>A)
c.2067G>A (p.Met689Ile)
c.2553G>A (p.Met851Ile)
c.2220G>A (p.Met740Ile)
c.2301G>A (p.Met767Ile)
c.2319G>A (p.Met773Ile)
c.1623G>A (p.Met541Ile)
c.1286-133G>A (n.1286-133G>A)
c.514G>A
n.3351G>A
n.1898G>A
c.2409G>A (p.Met803Ile)
n.212-3816G>A
c.2457G>A (p.Met819Ile)
c.2517G>A (p.Met839Ile)
c.369G>A (p.Met123Ile)
c.2139G>A (p.Met713Ile)
c.1221G>A (p.Met407Ile)
n.2772G>A
13g.51950295A>CCA388015929ATP7Bc.*385T>G (n.*385T>G)
c.*1296T>G (n.*1296T>G)
c.2066T>G (p.Met689Arg)
c.2552T>G (p.Met851Arg)
c.2219T>G (p.Met740Arg)
c.2300T>G (p.Met767Arg)
c.2318T>G (p.Met773Arg)
c.1622T>G (p.Met541Arg)
c.1286-134T>G (n.1286-134T>G)
c.513T>G
n.3350T>G
n.1897T>G
c.2408T>G (p.Met803Arg)
n.212-3817T>G
c.2456T>G (p.Met819Arg)
c.2516T>G (p.Met839Arg)
c.368T>G (p.Met123Arg)
c.2138T>G (p.Met713Arg)
c.1220T>G (p.Met407Arg)
n.2771T>G
13g.51950295A>GCA388015937ATP7Bc.*385T>C (n.*385T>C)
c.*1296T>C (n.*1296T>C)
c.2066T>C (p.Met689Thr)
c.2552T>C (p.Met851Thr)
c.2219T>C (p.Met740Thr)
c.2300T>C (p.Met767Thr)
c.2318T>C (p.Met773Thr)
c.1622T>C (p.Met541Thr)
c.1286-134T>C (n.1286-134T>C)
c.513T>C
n.3350T>C
n.1897T>C
c.2408T>C (p.Met803Thr)
n.212-3817T>C
c.2456T>C (p.Met819Thr)
c.2516T>C (p.Met839Thr)
c.368T>C (p.Met123Thr)
c.2138T>C (p.Met713Thr)
c.1220T>C (p.Met407Thr)
n.2771T>C
 ClinVar
13g.51950295A>TCA388015933ATP7Bc.*385T>A (n.*385T>A)
c.*1296T>A (n.*1296T>A)
c.2066T>A (p.Met689Lys)
c.2552T>A (p.Met851Lys)
c.2219T>A (p.Met740Lys)
c.2300T>A (p.Met767Lys)
c.2318T>A (p.Met773Lys)
c.1622T>A (p.Met541Lys)
c.1286-134T>A (n.1286-134T>A)
c.513T>A
n.3350T>A
n.1897T>A
c.2408T>A (p.Met803Lys)
n.212-3817T>A
c.2456T>A (p.Met819Lys)
c.2516T>A (p.Met839Lys)
c.368T>A (p.Met123Lys)
c.2138T>A (p.Met713Lys)
c.1220T>A (p.Met407Lys)
n.2771T>A
13g.51950296T>ACA388015941ATP7Bc.*384A>T (n.*384A>T)
c.*1295A>T (n.*1295A>T)
c.2065A>T (p.Met689Leu)
c.2551A>T (p.Met851Leu)
c.2218A>T (p.Met740Leu)
c.2299A>T (p.Met767Leu)
c.2317A>T (p.Met773Leu)
c.1621A>T (p.Met541Leu)
c.1286-135A>T (n.1286-135A>T)
c.512A>T
n.3349A>T
n.1896A>T
c.2407A>T (p.Met803Leu)
n.212-3818A>T
c.2455A>T (p.Met819Leu)
c.2515A>T (p.Met839Leu)
c.367A>T (p.Met123Leu)
c.2137A>T (p.Met713Leu)
c.1219A>T (p.Met407Leu)
n.2770A>T
13g.51950296T>CCA6988978ATP7Bc.*384A>G (n.*384A>G)
c.*1295A>G (n.*1295A>G)
c.2065A>G (p.Met689Val)
c.2551A>G (p.Met851Val)
c.2218A>G (p.Met740Val)
c.2299A>G (p.Met767Val)
c.2317A>G (p.Met773Val)
c.1621A>G (p.Met541Val)
c.1286-135A>G (n.1286-135A>G)
c.512A>G
n.3349A>G
n.1896A>G
c.2407A>G (p.Met803Val)
n.212-3818A>G
c.2455A>G (p.Met819Val)
c.2515A>G (p.Met839Val)
c.367A>G (p.Met123Val)
c.2137A>G (p.Met713Val)
c.1219A>G (p.Met407Val)
n.2770A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950296T>GCA388015950ATP7Bc.*384A>C (n.*384A>C)
c.*1295A>C (n.*1295A>C)
c.2065A>C (p.Met689Leu)
c.2551A>C (p.Met851Leu)
c.2218A>C (p.Met740Leu)
c.2299A>C (p.Met767Leu)
c.2317A>C (p.Met773Leu)
c.1621A>C (p.Met541Leu)
c.1286-135A>C (n.1286-135A>C)
c.512A>C
n.3349A>C
n.1896A>C
c.2407A>C (p.Met803Leu)
n.212-3818A>C
c.2455A>C (p.Met819Leu)
c.2515A>C (p.Met839Leu)
c.367A>C (p.Met123Leu)
c.2137A>C (p.Met713Leu)
c.1219A>C (p.Met407Leu)
n.2770A>C
13g.51950296T=CA2091542294ATP7Bc.*384A= (n.*384A=)
c.*1295A= (n.*1295A=)
c.2065A= (p.Met689=)
c.2551A= (p.Met851=)
c.2218A= (p.Met740=)
c.2299A= (p.Met767=)
c.2317A= (p.Met773=)
c.1621A= (p.Met541=)
c.1286-135A= (n.1286-135A=)
c.512A=
n.3349A=
n.1896A=
c.2407A= (p.Met803=)
n.212-3818A=
c.2455A= (p.Met819=)
c.2515A= (p.Met839=)
c.367A= (p.Met123=)
c.2137A= (p.Met713=)
c.1219A= (p.Met407=)
n.2770A=
13g.51950297G>ACA483895738ATP7Bc.*383C>T (n.*383C>T)
c.*1294C>T (n.*1294C>T)
c.2064C>T (p.Thr688=)
c.2550C>T (p.Thr850=)
c.2217C>T (p.Thr739=)
c.2298C>T (p.Thr766=)
c.2316C>T (p.Thr772=)
c.1620C>T (p.Thr540=)
c.1286-136C>T (n.1286-136C>T)
c.511C>T
n.3348C>T
n.1895C>T
c.2406C>T (p.Thr802=)
n.212-3819C>T
c.2454C>T (p.Thr818=)
c.2514C>T (p.Thr838=)
c.366C>T (p.Thr122=)
c.2136C>T (p.Thr712=)
c.1218C>T (p.Thr406=)
n.2769C>T
 ClinVar
13g.51950297G>CCA483895739ATP7Bc.*383C>G (n.*383C>G)
c.*1294C>G (n.*1294C>G)
c.2064C>G (p.Thr688=)
c.2550C>G (p.Thr850=)
c.2217C>G (p.Thr739=)
c.2298C>G (p.Thr766=)
c.2316C>G (p.Thr772=)
c.1620C>G (p.Thr540=)
c.1286-136C>G (n.1286-136C>G)
c.511C>G
n.3348C>G
n.1895C>G
c.2406C>G (p.Thr802=)
n.212-3819C>G
c.2454C>G (p.Thr818=)
c.2514C>G (p.Thr838=)
c.366C>G (p.Thr122=)
c.2136C>G (p.Thr712=)
c.1218C>G (p.Thr406=)
n.2769C>G
13g.51950297G>TCA483895740ATP7Bc.*383C>A (n.*383C>A)
c.*1294C>A (n.*1294C>A)
c.2064C>A (p.Thr688=)
c.2550C>A (p.Thr850=)
c.2217C>A (p.Thr739=)
c.2298C>A (p.Thr766=)
c.2316C>A (p.Thr772=)
c.1620C>A (p.Thr540=)
c.1286-136C>A (n.1286-136C>A)
c.511C>A
n.3348C>A
n.1895C>A
c.2406C>A (p.Thr802=)
n.212-3819C>A
c.2454C>A (p.Thr818=)
c.2514C>A (p.Thr838=)
c.366C>A (p.Thr122=)
c.2136C>A (p.Thr712=)
c.1218C>A (p.Thr406=)
n.2769C>A
13g.51950298G>ACA6988979ATP7Bc.*382C>T (n.*382C>T)
c.*1293C>T (n.*1293C>T)
c.2063C>T (p.Thr688Ile)
c.2549C>T (p.Thr850Ile)
c.2216C>T (p.Thr739Ile)
c.2297C>T (p.Thr766Ile)
c.2315C>T (p.Thr772Ile)
c.1619C>T (p.Thr540Ile)
c.1286-137C>T (n.1286-137C>T)
c.510C>T
n.3347C>T
n.1894C>T
c.2405C>T (p.Thr802Ile)
n.212-3820C>T
c.2453C>T (p.Thr818Ile)
c.2513C>T (p.Thr838Ile)
c.365C>T (p.Thr122Ile)
c.2135C>T (p.Thr712Ile)
c.1217C>T (p.Thr406Ile)
n.2768C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950298G>CCA388015955ATP7Bc.*382C>G (n.*382C>G)
c.*1293C>G (n.*1293C>G)
c.2063C>G (p.Thr688Ser)
c.2549C>G (p.Thr850Ser)
c.2216C>G (p.Thr739Ser)
c.2297C>G (p.Thr766Ser)
c.2315C>G (p.Thr772Ser)
c.1619C>G (p.Thr540Ser)
c.1286-137C>G (n.1286-137C>G)
c.510C>G
n.3347C>G
n.1894C>G
c.2405C>G (p.Thr802Ser)
n.212-3820C>G
c.2453C>G (p.Thr818Ser)
c.2513C>G (p.Thr838Ser)
c.365C>G (p.Thr122Ser)
c.2135C>G (p.Thr712Ser)
c.1217C>G (p.Thr406Ser)
n.2768C>G
13g.51950298G=CA2091542298ATP7Bc.*382C= (n.*382C=)
c.*1293C= (n.*1293C=)
c.2063C= (p.Thr688=)
c.2549C= (p.Thr850=)
c.2216C= (p.Thr739=)
c.2297C= (p.Thr766=)
c.2315C= (p.Thr772=)
c.1619C= (p.Thr540=)
c.1286-137C= (n.1286-137C=)
c.510C=
n.3347C=
n.1894C=
c.2405C= (p.Thr802=)
n.212-3820C=
c.2453C= (p.Thr818=)
c.2513C= (p.Thr838=)
c.365C= (p.Thr122=)
c.2135C= (p.Thr712=)
c.1217C= (p.Thr406=)
n.2768C=
13g.51950298G>TCA6988980ATP7Bc.*382C>A (n.*382C>A)
c.*1293C>A (n.*1293C>A)
c.2063C>A (p.Thr688Asn)
c.2549C>A (p.Thr850Asn)
c.2216C>A (p.Thr739Asn)
c.2297C>A (p.Thr766Asn)
c.2315C>A (p.Thr772Asn)
c.1619C>A (p.Thr540Asn)
c.1286-137C>A (n.1286-137C>A)
c.510C>A
n.3347C>A
n.1894C>A
c.2405C>A (p.Thr802Asn)
n.212-3820C>A
c.2453C>A (p.Thr818Asn)
c.2513C>A (p.Thr838Asn)
c.365C>A (p.Thr122Asn)
c.2135C>A (p.Thr712Asn)
c.1217C>A (p.Thr406Asn)
n.2768C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950299T>ACA388015964ATP7Bc.*381A>T (n.*381A>T)
c.*1292A>T (n.*1292A>T)
c.2062A>T (p.Thr688Ser)
c.2548A>T (p.Thr850Ser)
c.2215A>T (p.Thr739Ser)
c.2296A>T (p.Thr766Ser)
c.2314A>T (p.Thr772Ser)
c.1618A>T (p.Thr540Ser)
c.1286-138A>T (n.1286-138A>T)
c.509A>T
n.3346A>T
n.1893A>T
c.2404A>T (p.Thr802Ser)
n.212-3821A>T
c.2452A>T (p.Thr818Ser)
c.2512A>T (p.Thr838Ser)
c.364A>T (p.Thr122Ser)
c.2134A>T (p.Thr712Ser)
c.1216A>T (p.Thr406Ser)
n.2767A>T
13g.51950299T>CCA388015970ATP7Bc.*381A>G (n.*381A>G)
c.*1292A>G (n.*1292A>G)
c.2062A>G (p.Thr688Ala)
c.2548A>G (p.Thr850Ala)
c.2215A>G (p.Thr739Ala)
c.2296A>G (p.Thr766Ala)
c.2314A>G (p.Thr772Ala)
c.1618A>G (p.Thr540Ala)
c.1286-138A>G (n.1286-138A>G)
c.509A>G
n.3346A>G
n.1893A>G
c.2404A>G (p.Thr802Ala)
n.212-3821A>G
c.2452A>G (p.Thr818Ala)
c.2512A>G (p.Thr838Ala)
c.364A>G (p.Thr122Ala)
c.2134A>G (p.Thr712Ala)
c.1216A>G (p.Thr406Ala)
n.2767A>G
13g.51950299T>GCA388015974ATP7Bc.*381A>C (n.*381A>C)
c.*1292A>C (n.*1292A>C)
c.2062A>C (p.Thr688Pro)
c.2548A>C (p.Thr850Pro)
c.2215A>C (p.Thr739Pro)
c.2296A>C (p.Thr766Pro)
c.2314A>C (p.Thr772Pro)
c.1618A>C (p.Thr540Pro)
c.1286-138A>C (n.1286-138A>C)
c.509A>C
n.3346A>C
n.1893A>C
c.2404A>C (p.Thr802Pro)
n.212-3821A>C
c.2452A>C (p.Thr818Pro)
c.2512A>C (p.Thr838Pro)
c.364A>C (p.Thr122Pro)
c.2134A>C (p.Thr712Pro)
c.1216A>C (p.Thr406Pro)
n.2767A>C
13g.51950300A>CCA388015978ATP7Bc.*380T>G (n.*380T>G)
c.*1291T>G (n.*1291T>G)
c.2061T>G (p.Asn687Lys)
c.2547T>G (p.Asn849Lys)
c.2214T>G (p.Asn738Lys)
c.2295T>G (p.Asn765Lys)
c.2313T>G (p.Asn771Lys)
c.1617T>G (p.Asn539Lys)
c.1286-139T>G (n.1286-139T>G)
c.508T>G
n.3345T>G
n.1892T>G
c.2403T>G (p.Asn801Lys)
n.212-3822T>G
c.2451T>G (p.Asn817Lys)
c.2511T>G (p.Asn837Lys)
c.363T>G (p.Asn121Lys)
c.2133T>G (p.Asn711Lys)
c.1215T>G (p.Asn405Lys)
n.2766T>G
13g.51950300A>GCA483895741ATP7Bc.*380T>C (n.*380T>C)
c.*1291T>C (n.*1291T>C)
c.2061T>C (p.Asn687=)
c.2547T>C (p.Asn849=)
c.2214T>C (p.Asn738=)
c.2295T>C (p.Asn765=)
c.2313T>C (p.Asn771=)
c.1617T>C (p.Asn539=)
c.1286-139T>C (n.1286-139T>C)
c.508T>C
n.3345T>C
n.1892T>C
c.2403T>C (p.Asn801=)
n.212-3822T>C
c.2451T>C (p.Asn817=)
c.2511T>C (p.Asn837=)
c.363T>C (p.Asn121=)
c.2133T>C (p.Asn711=)
c.1215T>C (p.Asn405=)
n.2766T>C
13g.51950300A>TCA388015982ATP7Bc.*380T>A (n.*380T>A)
c.*1291T>A (n.*1291T>A)
c.2061T>A (p.Asn687Lys)
c.2547T>A (p.Asn849Lys)
c.2214T>A (p.Asn738Lys)
c.2295T>A (p.Asn765Lys)
c.2313T>A (p.Asn771Lys)
c.1617T>A (p.Asn539Lys)
c.1286-139T>A (n.1286-139T>A)
c.508T>A
n.3345T>A
n.1892T>A
c.2403T>A (p.Asn801Lys)
n.212-3822T>A
c.2451T>A (p.Asn817Lys)
c.2511T>A (p.Asn837Lys)
c.363T>A (p.Asn121Lys)
c.2133T>A (p.Asn711Lys)
c.1215T>A (p.Asn405Lys)
n.2766T>A
13g.51950301T>ACA388015986ATP7Bc.*379A>T (n.*379A>T)
c.*1290A>T (n.*1290A>T)
c.2060A>T (p.Asn687Ile)
c.2546A>T (p.Asn849Ile)
c.2213A>T (p.Asn738Ile)
c.2294A>T (p.Asn765Ile)
c.2312A>T (p.Asn771Ile)
c.1616A>T (p.Asn539Ile)
c.1286-140A>T (n.1286-140A>T)
c.507A>T
n.3344A>T
n.1891A>T
c.2402A>T (p.Asn801Ile)
n.212-3823A>T
c.2450A>T (p.Asn817Ile)
c.2510A>T (p.Asn837Ile)
c.362A>T (p.Asn121Ile)
c.2132A>T (p.Asn711Ile)
c.1214A>T (p.Asn405Ile)
n.2765A>T
13g.51950301T>CCA388016005ATP7Bc.*379A>G (n.*379A>G)
c.*1290A>G (n.*1290A>G)
c.2060A>G (p.Asn687Ser)
c.2546A>G (p.Asn849Ser)
c.2213A>G (p.Asn738Ser)
c.2294A>G (p.Asn765Ser)
c.2312A>G (p.Asn771Ser)
c.1616A>G (p.Asn539Ser)
c.1286-140A>G (n.1286-140A>G)
c.507A>G
n.3344A>G
n.1891A>G
c.2402A>G (p.Asn801Ser)
n.212-3823A>G
c.2450A>G (p.Asn817Ser)
c.2510A>G (p.Asn837Ser)
c.362A>G (p.Asn121Ser)
c.2132A>G (p.Asn711Ser)
c.1214A>G (p.Asn405Ser)
n.2765A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51950301T>GCA388015988ATP7Bc.*379A>C (n.*379A>C)
c.*1290A>C (n.*1290A>C)
c.2060A>C (p.Asn687Thr)
c.2546A>C (p.Asn849Thr)
c.2213A>C (p.Asn738Thr)
c.2294A>C (p.Asn765Thr)
c.2312A>C (p.Asn771Thr)
c.1616A>C (p.Asn539Thr)
c.1286-140A>C (n.1286-140A>C)
c.507A>C
n.3344A>C
n.1891A>C
c.2402A>C (p.Asn801Thr)
n.212-3823A>C
c.2450A>C (p.Asn817Thr)
c.2510A>C (p.Asn837Thr)
c.362A>C (p.Asn121Thr)
c.2132A>C (p.Asn711Thr)
c.1214A>C (p.Asn405Thr)
n.2765A>C
13g.51950301T=CA2091542304ATP7Bc.*379A= (n.*379A=)
c.*1290A= (n.*1290A=)
c.2060A= (p.Asn687=)
c.2546A= (p.Asn849=)
c.2213A= (p.Asn738=)
c.2294A= (p.Asn765=)
c.2312A= (p.Asn771=)
c.1616A= (p.Asn539=)
c.1286-140A= (n.1286-140A=)
c.507A=
n.3344A=
n.1891A=
c.2402A= (p.Asn801=)
n.212-3823A=
c.2450A= (p.Asn817=)
c.2510A= (p.Asn837=)
c.362A= (p.Asn121=)
c.2132A= (p.Asn711=)
c.1214A= (p.Asn405=)
n.2765A=
13g.51950302T>ACA388016015ATP7Bc.*378A>T (n.*378A>T)
c.*1289A>T (n.*1289A>T)
c.2059A>T (p.Asn687Tyr)
c.2545A>T (p.Asn849Tyr)
c.2212A>T (p.Asn738Tyr)
c.2293A>T (p.Asn765Tyr)
c.2311A>T (p.Asn771Tyr)
c.1615A>T (p.Asn539Tyr)
c.1286-141A>T (n.1286-141A>T)
c.506A>T
n.3343A>T
n.1890A>T
c.2401A>T (p.Asn801Tyr)
n.212-3824A>T
c.2449A>T (p.Asn817Tyr)
c.2509A>T (p.Asn837Tyr)
c.361A>T (p.Asn121Tyr)
c.2131A>T (p.Asn711Tyr)
c.1213A>T (p.Asn405Tyr)
n.2764A>T
13g.51950302T>CCA388016017ATP7Bc.*378A>G (n.*378A>G)
c.*1289A>G (n.*1289A>G)
c.2059A>G (p.Asn687Asp)
c.2545A>G (p.Asn849Asp)
c.2212A>G (p.Asn738Asp)
c.2293A>G (p.Asn765Asp)
c.2311A>G (p.Asn771Asp)
c.1615A>G (p.Asn539Asp)
c.1286-141A>G (n.1286-141A>G)
c.506A>G
n.3343A>G
n.1890A>G
c.2401A>G (p.Asn801Asp)
n.212-3824A>G
c.2449A>G (p.Asn817Asp)
c.2509A>G (p.Asn837Asp)
c.361A>G (p.Asn121Asp)
c.2131A>G (p.Asn711Asp)
c.1213A>G (p.Asn405Asp)
n.2764A>G
13g.51950302T>GCA388016020ATP7Bc.*378A>C (n.*378A>C)
c.*1289A>C (n.*1289A>C)
c.2059A>C (p.Asn687His)
c.2545A>C (p.Asn849His)
c.2212A>C (p.Asn738His)
c.2293A>C (p.Asn765His)
c.2311A>C (p.Asn771His)
c.1615A>C (p.Asn539His)
c.1286-141A>C (n.1286-141A>C)
c.506A>C
n.3343A>C
n.1890A>C
c.2401A>C (p.Asn801His)
n.212-3824A>C
c.2449A>C (p.Asn817His)
c.2509A>C (p.Asn837His)
c.361A>C (p.Asn121His)
c.2131A>C (p.Asn711His)
c.1213A>C (p.Asn405His)
n.2764A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950302T=CA2091542307ATP7Bc.*378A= (n.*378A=)
c.*1289A= (n.*1289A=)
c.2059A= (p.Asn687=)
c.2545A= (p.Asn849=)
c.2212A= (p.Asn738=)
c.2293A= (p.Asn765=)
c.2311A= (p.Asn771=)
c.1615A= (p.Asn539=)
c.1286-141A= (n.1286-141A=)
c.506A=
n.3343A=
n.1890A=
c.2401A= (p.Asn801=)
n.212-3824A=
c.2449A= (p.Asn817=)
c.2509A= (p.Asn837=)
c.361A= (p.Asn121=)
c.2131A= (p.Asn711=)
c.1213A= (p.Asn405=)
n.2764A=
13g.51950303G>ACA6988981ATP7Bc.*377C>T (n.*377C>T)
c.*1288C>T (n.*1288C>T)
c.2058C>T (p.Gly686=)
c.2544C>T (p.Gly848=)
c.2211C>T (p.Gly737=)
c.2292C>T (p.Gly764=)
c.2310C>T (p.Gly770=)
c.1614C>T (p.Gly538=)
c.1286-142C>T (n.1286-142C>T)
c.505C>T
n.3342C>T
n.1889C>T
c.2400C>T (p.Gly800=)
n.212-3825C>T
c.2448C>T (p.Gly816=)
c.2508C>T (p.Gly836=)
c.360C>T (p.Gly120=)
c.2130C>T (p.Gly710=)
c.1212C>T (p.Gly404=)
n.2763C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950303G>CCA483895742ATP7Bc.*377C>G (n.*377C>G)
c.*1288C>G (n.*1288C>G)
c.2058C>G (p.Gly686=)
c.2544C>G (p.Gly848=)
c.2211C>G (p.Gly737=)
c.2292C>G (p.Gly764=)
c.2310C>G (p.Gly770=)
c.1614C>G (p.Gly538=)
c.1286-142C>G (n.1286-142C>G)
c.505C>G
n.3342C>G
n.1889C>G
c.2400C>G (p.Gly800=)
n.212-3825C>G
c.2448C>G (p.Gly816=)
c.2508C>G (p.Gly836=)
c.360C>G (p.Gly120=)
c.2130C>G (p.Gly710=)
c.1212C>G (p.Gly404=)
n.2763C>G
13g.51950303G=CA2091542310ATP7Bc.*377C= (n.*377C=)
c.*1288C= (n.*1288C=)
c.2058C= (p.Gly686=)
c.2544C= (p.Gly848=)
c.2211C= (p.Gly737=)
c.2292C= (p.Gly764=)
c.2310C= (p.Gly770=)
c.1614C= (p.Gly538=)
c.1286-142C= (n.1286-142C=)
c.505C=
n.3342C=
n.1889C=
c.2400C= (p.Gly800=)
n.212-3825C=
c.2448C= (p.Gly816=)
c.2508C= (p.Gly836=)
c.360C= (p.Gly120=)
c.2130C= (p.Gly710=)
c.1212C= (p.Gly404=)
n.2763C=
13g.51950303G>TCA483895743ATP7Bc.*377C>A (n.*377C>A)
c.*1288C>A (n.*1288C>A)
c.2058C>A (p.Gly686=)
c.2544C>A (p.Gly848=)
c.2211C>A (p.Gly737=)
c.2292C>A (p.Gly764=)
c.2310C>A (p.Gly770=)
c.1614C>A (p.Gly538=)
c.1286-142C>A (n.1286-142C>A)
c.505C>A
n.3342C>A
n.1889C>A
c.2400C>A (p.Gly800=)
n.212-3825C>A
c.2448C>A (p.Gly816=)
c.2508C>A (p.Gly836=)
c.360C>A (p.Gly120=)
c.2130C>A (p.Gly710=)
c.1212C>A (p.Gly404=)
n.2763C>A
 ClinVar
13g.51950304C>ACA388016026ATP7Bc.*376G>T (n.*376G>T)
c.*1287G>T (n.*1287G>T)
c.2057G>T (p.Gly686Val)
c.2543G>T (p.Gly848Val)
c.2210G>T (p.Gly737Val)
c.2291G>T (p.Gly764Val)
c.2309G>T (p.Gly770Val)
c.1613G>T (p.Gly538Val)
c.1286-143G>T (n.1286-143G>T)
c.504G>T
n.3341G>T
n.1888G>T
c.2399G>T (p.Gly800Val)
n.212-3826G>T
c.2447G>T (p.Gly816Val)
c.2507G>T (p.Gly836Val)
c.359G>T (p.Gly120Val)
c.2129G>T (p.Gly710Val)
c.1211G>T (p.Gly404Val)
n.2762G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950304C=CA2091542313ATP7Bc.*376G= (n.*376G=)
c.*1287G= (n.*1287G=)
c.2057G= (p.Gly686=)
c.2543G= (p.Gly848=)
c.2210G= (p.Gly737=)
c.2291G= (p.Gly764=)
c.2309G= (p.Gly770=)
c.1613G= (p.Gly538=)
c.1286-143G= (n.1286-143G=)
c.504G=
n.3341G=
n.1888G=
c.2399G= (p.Gly800=)
n.212-3826G=
c.2447G= (p.Gly816=)
c.2507G= (p.Gly836=)
c.359G= (p.Gly120=)
c.2129G= (p.Gly710=)
c.1211G= (p.Gly404=)
n.2762G=
13g.51950304C>GCA388016029ATP7Bc.*376G>C (n.*376G>C)
c.*1287G>C (n.*1287G>C)
c.2057G>C (p.Gly686Ala)
c.2543G>C (p.Gly848Ala)
c.2210G>C (p.Gly737Ala)
c.2291G>C (p.Gly764Ala)
c.2309G>C (p.Gly770Ala)
c.1613G>C (p.Gly538Ala)
c.1286-143G>C (n.1286-143G>C)
c.504G>C
n.3341G>C
n.1888G>C
c.2399G>C (p.Gly800Ala)
n.212-3826G>C
c.2447G>C (p.Gly816Ala)
c.2507G>C (p.Gly836Ala)
c.359G>C (p.Gly120Ala)
c.2129G>C (p.Gly710Ala)
c.1211G>C (p.Gly404Ala)
n.2762G>C
13g.51950304C>TCA388016030ATP7Bc.*376G>A (n.*376G>A)
c.*1287G>A (n.*1287G>A)
c.2057G>A (p.Gly686Asp)
c.2543G>A (p.Gly848Asp)
c.2210G>A (p.Gly737Asp)
c.2291G>A (p.Gly764Asp)
c.2309G>A (p.Gly770Asp)
c.1613G>A (p.Gly538Asp)
c.1286-143G>A (n.1286-143G>A)
c.504G>A
n.3341G>A
n.1888G>A
c.2399G>A (p.Gly800Asp)
n.212-3826G>A
c.2447G>A (p.Gly816Asp)
c.2507G>A (p.Gly836Asp)
c.359G>A (p.Gly120Asp)
c.2129G>A (p.Gly710Asp)
c.1211G>A (p.Gly404Asp)
n.2762G>A
 ClinVar
13g.51950305C>ACA388016035ATP7Bc.*375G>T (n.*375G>T)
c.*1286G>T (n.*1286G>T)
c.2056G>T (p.Gly686Cys)
c.2542G>T (p.Gly848Cys)
c.2209G>T (p.Gly737Cys)
c.2290G>T (p.Gly764Cys)
c.2308G>T (p.Gly770Cys)
c.1612G>T (p.Gly538Cys)
c.1286-144G>T (n.1286-144G>T)
c.503G>T
n.3340G>T
n.1887G>T
c.2398G>T (p.Gly800Cys)
n.212-3827G>T
c.2446G>T (p.Gly816Cys)
c.2506G>T (p.Gly836Cys)
c.358G>T (p.Gly120Cys)
c.2128G>T (p.Gly710Cys)
c.1210G>T (p.Gly404Cys)
n.2761G>T
13g.51950305C>GCA388016031ATP7Bc.*375G>C (n.*375G>C)
c.*1286G>C (n.*1286G>C)
c.2056G>C (p.Gly686Arg)
c.2542G>C (p.Gly848Arg)
c.2209G>C (p.Gly737Arg)
c.2290G>C (p.Gly764Arg)
c.2308G>C (p.Gly770Arg)
c.1612G>C (p.Gly538Arg)
c.1286-144G>C (n.1286-144G>C)
c.503G>C
n.3340G>C
n.1887G>C
c.2398G>C (p.Gly800Arg)
n.212-3827G>C
c.2446G>C (p.Gly816Arg)
c.2506G>C (p.Gly836Arg)
c.358G>C (p.Gly120Arg)
c.2128G>C (p.Gly710Arg)
c.1210G>C (p.Gly404Arg)
n.2761G>C
13g.51950305C>TCA388016033ATP7Bc.*375G>A (n.*375G>A)
c.*1286G>A (n.*1286G>A)
c.2056G>A (p.Gly686Ser)
c.2542G>A (p.Gly848Ser)
c.2209G>A (p.Gly737Ser)
c.2290G>A (p.Gly764Ser)
c.2308G>A (p.Gly770Ser)
c.1612G>A (p.Gly538Ser)
c.1286-144G>A (n.1286-144G>A)
c.503G>A
n.3340G>A
n.1887G>A
c.2398G>A (p.Gly800Ser)
n.212-3827G>A
c.2446G>A (p.Gly816Ser)
c.2506G>A (p.Gly836Ser)
c.358G>A (p.Gly120Ser)
c.2128G>A (p.Gly710Ser)
c.1210G>A (p.Gly404Ser)
n.2761G>A
13g.51950306T>ACA388016041ATP7Bc.*374A>T (n.*374A>T)
c.*1285A>T (n.*1285A>T)
c.2055A>T (p.Glu685Asp)
c.2541A>T (p.Glu847Asp)
c.2208A>T (p.Glu736Asp)
c.2289A>T (p.Glu763Asp)
c.2307A>T (p.Glu769Asp)
c.1611A>T (p.Glu537Asp)
c.1286-145A>T (n.1286-145A>T)
c.502A>T
n.3339A>T
n.1886A>T
c.2397A>T (p.Glu799Asp)
n.212-3828A>T
c.2445A>T (p.Glu815Asp)
c.2505A>T (p.Glu835Asp)
c.357A>T (p.Glu119Asp)
c.2127A>T (p.Glu709Asp)
c.1209A>T (p.Glu403Asp)
n.2760A>T
13g.51950306T>CCA483895744ATP7Bc.*374A>G (n.*374A>G)
c.*1285A>G (n.*1285A>G)
c.2055A>G (p.Glu685=)
c.2541A>G (p.Glu847=)
c.2208A>G (p.Glu736=)
c.2289A>G (p.Glu763=)
c.2307A>G (p.Glu769=)
c.1611A>G (p.Glu537=)
c.1286-145A>G (n.1286-145A>G)
c.502A>G
n.3339A>G
n.1886A>G
c.2397A>G (p.Glu799=)
n.212-3828A>G
c.2445A>G (p.Glu815=)
c.2505A>G (p.Glu835=)
c.357A>G (p.Glu119=)
c.2127A>G (p.Glu709=)
c.1209A>G (p.Glu403=)
n.2760A>G
13g.51950306T>GCA388016044ATP7Bc.*374A>C (n.*374A>C)
c.*1285A>C (n.*1285A>C)
c.2055A>C (p.Glu685Asp)
c.2541A>C (p.Glu847Asp)
c.2208A>C (p.Glu736Asp)
c.2289A>C (p.Glu763Asp)
c.2307A>C (p.Glu769Asp)
c.1611A>C (p.Glu537Asp)
c.1286-145A>C (n.1286-145A>C)
c.502A>C
n.3339A>C
n.1886A>C
c.2397A>C (p.Glu799Asp)
n.212-3828A>C
c.2445A>C (p.Glu815Asp)
c.2505A>C (p.Glu835Asp)
c.357A>C (p.Glu119Asp)
c.2127A>C (p.Glu709Asp)
c.1209A>C (p.Glu403Asp)
n.2760A>C
13g.51950307T>ACA388016045ATP7Bc.*373A>T (n.*373A>T)
c.*1284A>T (n.*1284A>T)
c.2054A>T (p.Glu685Val)
c.2540A>T (p.Glu847Val)
c.2207A>T (p.Glu736Val)
c.2288A>T (p.Glu763Val)
c.2306A>T (p.Glu769Val)
c.1610A>T (p.Glu537Val)
c.1286-146A>T (n.1286-146A>T)
c.501A>T
n.3338A>T
n.1885A>T
c.2396A>T (p.Glu799Val)
n.212-3829A>T
c.2444A>T (p.Glu815Val)
c.2504A>T (p.Glu835Val)
c.356A>T (p.Glu119Val)
c.2126A>T (p.Glu709Val)
c.1208A>T (p.Glu403Val)
n.2759A>T
13g.51950307T>CCA388016046ATP7Bc.*373A>G (n.*373A>G)
c.*1284A>G (n.*1284A>G)
c.2054A>G (p.Glu685Gly)
c.2540A>G (p.Glu847Gly)
c.2207A>G (p.Glu736Gly)
c.2288A>G (p.Glu763Gly)
c.2306A>G (p.Glu769Gly)
c.1610A>G (p.Glu537Gly)
c.1286-146A>G (n.1286-146A>G)
c.501A>G
n.3338A>G
n.1885A>G
c.2396A>G (p.Glu799Gly)
n.212-3829A>G
c.2444A>G (p.Glu815Gly)
c.2504A>G (p.Glu835Gly)
c.356A>G (p.Glu119Gly)
c.2126A>G (p.Glu709Gly)
c.1208A>G (p.Glu403Gly)
n.2759A>G
 gnomAD v4
13g.51950307T>GCA388016048ATP7Bc.*373A>C (n.*373A>C)
c.*1284A>C (n.*1284A>C)
c.2054A>C (p.Glu685Ala)
c.2540A>C (p.Glu847Ala)
c.2207A>C (p.Glu736Ala)
c.2288A>C (p.Glu763Ala)
c.2306A>C (p.Glu769Ala)
c.1610A>C (p.Glu537Ala)
c.1286-146A>C (n.1286-146A>C)
c.501A>C
n.3338A>C
n.1885A>C
c.2396A>C (p.Glu799Ala)
n.212-3829A>C
c.2444A>C (p.Glu815Ala)
c.2504A>C (p.Glu835Ala)
c.356A>C (p.Glu119Ala)
c.2126A>C (p.Glu709Ala)
c.1208A>C (p.Glu403Ala)
n.2759A>C
13g.51950308C>ACA388016053ATP7Bc.*372G>T (n.*372G>T)
c.*1283G>T (n.*1283G>T)
c.2053G>T (p.Glu685Ter)
c.2539G>T (p.Glu847Ter)
c.2206G>T (p.Glu736Ter)
c.2287G>T (p.Glu763Ter)
c.2305G>T (p.Glu769Ter)
c.1609G>T (p.Glu537Ter)
c.1286-147G>T (n.1286-147G>T)
c.500G>T
n.3337G>T
n.1884G>T
c.2395G>T (p.Glu799Ter)
n.212-3830G>T
c.2443G>T (p.Glu815Ter)
c.2503G>T (p.Glu835Ter)
c.355G>T (p.Glu119Ter)
c.2125G>T (p.Glu709Ter)
c.1207G>T (p.Glu403Ter)
n.2758G>T
13g.51950308C=CA2091542317ATP7Bc.*372G= (n.*372G=)
c.*1283G= (n.*1283G=)
c.2053G= (p.Glu685=)
c.2539G= (p.Glu847=)
c.2206G= (p.Glu736=)
c.2287G= (p.Glu763=)
c.2305G= (p.Glu769=)
c.1609G= (p.Glu537=)
c.1286-147G= (n.1286-147G=)
c.500G=
n.3337G=
n.1884G=
c.2395G= (p.Glu799=)
n.212-3830G=
c.2443G= (p.Glu815=)
c.2503G= (p.Glu835=)
c.355G= (p.Glu119=)
c.2125G= (p.Glu709=)
c.1207G= (p.Glu403=)
n.2758G=
13g.51950308C>GCA388016061ATP7Bc.*372G>C (n.*372G>C)
c.*1283G>C (n.*1283G>C)
c.2053G>C (p.Glu685Gln)
c.2539G>C (p.Glu847Gln)
c.2206G>C (p.Glu736Gln)
c.2287G>C (p.Glu763Gln)
c.2305G>C (p.Glu769Gln)
c.1609G>C (p.Glu537Gln)
c.1286-147G>C (n.1286-147G>C)
c.500G>C
n.3337G>C
n.1884G>C
c.2395G>C (p.Glu799Gln)
n.212-3830G>C
c.2443G>C (p.Glu815Gln)
c.2503G>C (p.Glu835Gln)
c.355G>C (p.Glu119Gln)
c.2125G>C (p.Glu709Gln)
c.1207G>C (p.Glu403Gln)
n.2758G>C
13g.51950308C>TCA388016055ATP7Bc.*372G>A (n.*372G>A)
c.*1283G>A (n.*1283G>A)
c.2053G>A (p.Glu685Lys)
c.2539G>A (p.Glu847Lys)
c.2206G>A (p.Glu736Lys)
c.2287G>A (p.Glu763Lys)
c.2305G>A (p.Glu769Lys)
c.1609G>A (p.Glu537Lys)
c.1286-147G>A (n.1286-147G>A)
c.500G>A
n.3337G>A
n.1884G>A
c.2395G>A (p.Glu799Lys)
n.212-3830G>A
c.2443G>A (p.Glu815Lys)
c.2503G>A (p.Glu835Lys)
c.355G>A (p.Glu119Lys)
c.2125G>A (p.Glu709Lys)
c.1207G>A (p.Glu403Lys)
n.2758G>A
 dbSNP gnomAD v4
13g.51950309C>ACA483895745ATP7Bc.*371G>T (n.*371G>T)
c.*1282G>T (n.*1282G>T)
c.2052G>T (p.Leu684=)
c.2538G>T (p.Leu846=)
c.2205G>T (p.Leu735=)
c.2286G>T (p.Leu762=)
c.2304G>T (p.Leu768=)
c.1608G>T (p.Leu536=)
c.1286-148G>T (n.1286-148G>T)
c.499G>T
n.3336G>T
n.1883G>T
c.2394G>T (p.Leu798=)
n.212-3831G>T
c.2442G>T (p.Leu814=)
c.2502G>T (p.Leu834=)
c.354G>T (p.Leu118=)
c.2124G>T (p.Leu708=)
c.1206G>T (p.Leu402=)
n.2757G>T
13g.51950309C>GCA483895746ATP7Bc.*371G>C (n.*371G>C)
c.*1282G>C (n.*1282G>C)
c.2052G>C (p.Leu684=)
c.2538G>C (p.Leu846=)
c.2205G>C (p.Leu735=)
c.2286G>C (p.Leu762=)
c.2304G>C (p.Leu768=)
c.1608G>C (p.Leu536=)
c.1286-148G>C (n.1286-148G>C)
c.499G>C
n.3336G>C
n.1883G>C
c.2394G>C (p.Leu798=)
n.212-3831G>C
c.2442G>C (p.Leu814=)
c.2502G>C (p.Leu834=)
c.354G>C (p.Leu118=)
c.2124G>C (p.Leu708=)
c.1206G>C (p.Leu402=)
n.2757G>C
13g.51950309C>TCA483895747ATP7Bc.*371G>A (n.*371G>A)
c.*1282G>A (n.*1282G>A)
c.2052G>A (p.Leu684=)
c.2538G>A (p.Leu846=)
c.2205G>A (p.Leu735=)
c.2286G>A (p.Leu762=)
c.2304G>A (p.Leu768=)
c.1608G>A (p.Leu536=)
c.1286-148G>A (n.1286-148G>A)
c.499G>A
n.3336G>A
n.1883G>A
c.2394G>A (p.Leu798=)
n.212-3831G>A
c.2442G>A (p.Leu814=)
c.2502G>A (p.Leu834=)
c.354G>A (p.Leu118=)
c.2124G>A (p.Leu708=)
c.1206G>A (p.Leu402=)
n.2757G>A
 ClinVar dbSNP COSMIC
13g.51950310A>CCA388016065ATP7Bc.*370T>G (n.*370T>G)
c.*1281T>G (n.*1281T>G)
c.2051T>G (p.Leu684Arg)
c.2537T>G (p.Leu846Arg)
c.2204T>G (p.Leu735Arg)
c.2285T>G (p.Leu762Arg)
c.2303T>G (p.Leu768Arg)
c.1607T>G (p.Leu536Arg)
c.1286-149T>G (n.1286-149T>G)
c.498T>G
n.3335T>G
n.1882T>G
c.2393T>G (p.Leu798Arg)
n.212-3832T>G
c.2441T>G (p.Leu814Arg)
c.2501T>G (p.Leu834Arg)
c.353T>G (p.Leu118Arg)
c.2123T>G (p.Leu708Arg)
c.1205T>G (p.Leu402Arg)
n.2756T>G
13g.51950310A>GCA388016075ATP7Bc.*370T>C (n.*370T>C)
c.*1281T>C (n.*1281T>C)
c.2051T>C (p.Leu684Pro)
c.2537T>C (p.Leu846Pro)
c.2204T>C (p.Leu735Pro)
c.2285T>C (p.Leu762Pro)
c.2303T>C (p.Leu768Pro)
c.1607T>C (p.Leu536Pro)
c.1286-149T>C (n.1286-149T>C)
c.498T>C
n.3335T>C
n.1882T>C
c.2393T>C (p.Leu798Pro)
n.212-3832T>C
c.2441T>C (p.Leu814Pro)
c.2501T>C (p.Leu834Pro)
c.353T>C (p.Leu118Pro)
c.2123T>C (p.Leu708Pro)
c.1205T>C (p.Leu402Pro)
n.2756T>C
13g.51950310A>TCA388016077ATP7Bc.*370T>A (n.*370T>A)
c.*1281T>A (n.*1281T>A)
c.2051T>A (p.Leu684Gln)
c.2537T>A (p.Leu846Gln)
c.2204T>A (p.Leu735Gln)
c.2285T>A (p.Leu762Gln)
c.2303T>A (p.Leu768Gln)
c.1607T>A (p.Leu536Gln)
c.1286-149T>A (n.1286-149T>A)
c.498T>A
n.3335T>A
n.1882T>A
c.2393T>A (p.Leu798Gln)
n.212-3832T>A
c.2441T>A (p.Leu814Gln)
c.2501T>A (p.Leu834Gln)
c.353T>A (p.Leu118Gln)
c.2123T>A (p.Leu708Gln)
c.1205T>A (p.Leu402Gln)
n.2756T>A
13g.51950311G>ACA483895748ATP7Bc.*369C>T (n.*369C>T)
c.*1280C>T (n.*1280C>T)
c.2050C>T (p.Leu684=)
c.2536C>T (p.Leu846=)
c.2203C>T (p.Leu735=)
c.2284C>T (p.Leu762=)
c.2302C>T (p.Leu768=)
c.1606C>T (p.Leu536=)
c.1286-150C>T (n.1286-150C>T)
c.497C>T
n.3334C>T
n.1881C>T
c.2392C>T (p.Leu798=)
n.212-3833C>T
c.2440C>T (p.Leu814=)
c.2500C>T (p.Leu834=)
c.352C>T (p.Leu118=)
c.2122C>T (p.Leu708=)
c.1204C>T (p.Leu402=)
n.2755C>T
13g.51950311G>CCA388016081ATP7Bc.*369C>G (n.*369C>G)
c.*1280C>G (n.*1280C>G)
c.2050C>G (p.Leu684Val)
c.2536C>G (p.Leu846Val)
c.2203C>G (p.Leu735Val)
c.2284C>G (p.Leu762Val)
c.2302C>G (p.Leu768Val)
c.1606C>G (p.Leu536Val)
c.1286-150C>G (n.1286-150C>G)
c.497C>G
n.3334C>G
n.1881C>G
c.2392C>G (p.Leu798Val)
n.212-3833C>G
c.2440C>G (p.Leu814Val)
c.2500C>G (p.Leu834Val)
c.352C>G (p.Leu118Val)
c.2122C>G (p.Leu708Val)
c.1204C>G (p.Leu402Val)
n.2755C>G
 dbSNP
13g.51950311G=CA2091542319ATP7Bc.*369C= (n.*369C=)
c.*1280C= (n.*1280C=)
c.2050C= (p.Leu684=)
c.2536C= (p.Leu846=)
c.2203C= (p.Leu735=)
c.2284C= (p.Leu762=)
c.2302C= (p.Leu768=)
c.1606C= (p.Leu536=)
c.1286-150C= (n.1286-150C=)
c.497C=
n.3334C=
n.1881C=
c.2392C= (p.Leu798=)
n.212-3833C=
c.2440C= (p.Leu814=)
c.2500C= (p.Leu834=)
c.352C= (p.Leu118=)
c.2122C= (p.Leu708=)
c.1204C= (p.Leu402=)
n.2755C=
13g.51950311G>TCA388016085ATP7Bc.*369C>A (n.*369C>A)
c.*1280C>A (n.*1280C>A)
c.2050C>A (p.Leu684Met)
c.2536C>A (p.Leu846Met)
c.2203C>A (p.Leu735Met)
c.2284C>A (p.Leu762Met)
c.2302C>A (p.Leu768Met)
c.1606C>A (p.Leu536Met)
c.1286-150C>A (n.1286-150C>A)
c.497C>A
n.3334C>A
n.1881C>A
c.2392C>A (p.Leu798Met)
n.212-3833C>A
c.2440C>A (p.Leu814Met)
c.2500C>A (p.Leu834Met)
c.352C>A (p.Leu118Met)
c.2122C>A (p.Leu708Met)
c.1204C>A (p.Leu402Met)
n.2755C>A
13g.51950312delCA2739277668ATP7Bc.*369del (n.*369del)
c.*1280del (n.*1280del)
c.2050del (p.Leu684TrpfsTer27)
c.2536del (p.Leu846TrpfsTer27)
c.2203del (p.Leu735TrpfsTer27)
c.2284del (p.Leu762TrpfsTer27)
c.2302del (p.Leu768TrpfsTer27)
c.1606del (p.Leu536TrpfsTer27)
c.1286-150del (n.1286-150del)
c.497del
n.3334del
n.1881del
c.2392del (p.Leu798TrpfsTer27)
n.212-3833del
c.2440del (p.Leu814TrpfsTer27)
c.2500del (p.Leu834TrpfsTer27)
c.352del (p.Leu118TrpfsTer27)
c.2122del (p.Leu708TrpfsTer27)
c.1204del (p.Leu402TrpfsTer27)
n.2755del
 ClinVar
13g.51950312G>ACA483895749ATP7Bc.*368C>T (n.*368C>T)
c.*1279C>T (n.*1279C>T)
c.2049C>T (p.Val683=)
c.2535C>T (p.Val845=)
c.2202C>T (p.Val734=)
c.2283C>T (p.Val761=)
c.2301C>T (p.Val767=)
c.1605C>T (p.Val535=)
c.1286-151C>T (n.1286-151C>T)
c.496C>T
n.3333C>T
n.1880C>T
c.2391C>T (p.Val797=)
n.212-3834C>T
c.2439C>T (p.Val813=)
c.2499C>T (p.Val833=)
c.351C>T (p.Val117=)
c.2121C>T (p.Val707=)
c.1203C>T (p.Val401=)
n.2754C>T
13g.51950312G>CCA483895750ATP7Bc.*368C>G (n.*368C>G)
c.*1279C>G (n.*1279C>G)
c.2049C>G (p.Val683=)
c.2535C>G (p.Val845=)
c.2202C>G (p.Val734=)
c.2283C>G (p.Val761=)
c.2301C>G (p.Val767=)
c.1605C>G (p.Val535=)
c.1286-151C>G (n.1286-151C>G)
c.496C>G
n.3333C>G
n.1880C>G
c.2391C>G (p.Val797=)
n.212-3834C>G
c.2439C>G (p.Val813=)
c.2499C>G (p.Val833=)
c.351C>G (p.Val117=)
c.2121C>G (p.Val707=)
c.1203C>G (p.Val401=)
n.2754C>G
 ClinVar dbSNP gnomAD v4
13g.51950312G=CA2091542324ATP7Bc.*368C= (n.*368C=)
c.*1279C= (n.*1279C=)
c.2049C= (p.Val683=)
c.2535C= (p.Val845=)
c.2202C= (p.Val734=)
c.2283C= (p.Val761=)
c.2301C= (p.Val767=)
c.1605C= (p.Val535=)
c.1286-151C= (n.1286-151C=)
c.496C=
n.3333C=
n.1880C=
c.2391C= (p.Val797=)
n.212-3834C=
c.2439C= (p.Val813=)
c.2499C= (p.Val833=)
c.351C= (p.Val117=)
c.2121C= (p.Val707=)
c.1203C= (p.Val401=)
n.2754C=
13g.51950312G>TCA483895751ATP7Bc.*368C>A (n.*368C>A)
c.*1279C>A (n.*1279C>A)
c.2049C>A (p.Val683=)
c.2535C>A (p.Val845=)
c.2202C>A (p.Val734=)
c.2283C>A (p.Val761=)
c.2301C>A (p.Val767=)
c.1605C>A (p.Val535=)
c.1286-151C>A (n.1286-151C>A)
c.496C>A
n.3333C>A
n.1880C>A
c.2391C>A (p.Val797=)
n.212-3834C>A
c.2439C>A (p.Val813=)
c.2499C>A (p.Val833=)
c.351C>A (p.Val117=)
c.2121C>A (p.Val707=)
c.1203C>A (p.Val401=)
n.2754C>A
 ClinVar dbSNP
13g.51950312_51950313insTCA698889893ATP7Bc.*367_*368insA (n.*367_*368insA)
c.*1278_*1279insA (n.*1278_*1279insA)
c.2048_2049insA (p.Leu684ProfsTer8)
c.2534_2535insA (p.Leu846ProfsTer8)
c.2201_2202insA (p.Leu735ProfsTer8)
c.2282_2283insA (p.Leu762ProfsTer8)
c.2300_2301insA (p.Leu768ProfsTer8)
c.1604_1605insA (p.Leu536ProfsTer8)
c.1286-152_1286-151insA (n.1286-152_1286-151insA)
c.495_496insA
n.3332_3333insA
n.1879_1880insA
c.2390_2391insA (p.Leu798ProfsTer8)
n.212-3835_212-3834insA
c.2438_2439insA (p.Leu814ProfsTer8)
c.2498_2499insA (p.Leu834ProfsTer8)
c.350_351insA (p.Leu118ProfsTer8)
c.2120_2121insA (p.Leu708ProfsTer8)
c.1202_1203insA (p.Leu402ProfsTer8)
n.2753_2754insA
 dbSNP gnomAD v3 gnomAD v4
13g.51950313A>CCA388016088ATP7Bc.*367T>G (n.*367T>G)
c.*1278T>G (n.*1278T>G)
c.2048T>G (p.Val683Gly)
c.2534T>G (p.Val845Gly)
c.2201T>G (p.Val734Gly)
c.2282T>G (p.Val761Gly)
c.2300T>G (p.Val767Gly)
c.1604T>G (p.Val535Gly)
c.1286-152T>G (n.1286-152T>G)
c.495T>G
n.3332T>G
n.1879T>G
c.2390T>G (p.Val797Gly)
n.212-3835T>G
c.2438T>G (p.Val813Gly)
c.2498T>G (p.Val833Gly)
c.350T>G (p.Val117Gly)
c.2120T>G (p.Val707Gly)
c.1202T>G (p.Val401Gly)
n.2753T>G
13g.51950313A>GCA388016095ATP7Bc.*367T>C (n.*367T>C)
c.*1278T>C (n.*1278T>C)
c.2048T>C (p.Val683Ala)
c.2534T>C (p.Val845Ala)
c.2201T>C (p.Val734Ala)
c.2282T>C (p.Val761Ala)
c.2300T>C (p.Val767Ala)
c.1604T>C (p.Val535Ala)
c.1286-152T>C (n.1286-152T>C)
c.495T>C
n.3332T>C
n.1879T>C
c.2390T>C (p.Val797Ala)
n.212-3835T>C
c.2438T>C (p.Val813Ala)
c.2498T>C (p.Val833Ala)
c.350T>C (p.Val117Ala)
c.2120T>C (p.Val707Ala)
c.1202T>C (p.Val401Ala)
n.2753T>C
13g.51950313A>TCA388016098ATP7Bc.*367T>A (n.*367T>A)
c.*1278T>A (n.*1278T>A)
c.2048T>A (p.Val683Asp)
c.2534T>A (p.Val845Asp)
c.2201T>A (p.Val734Asp)
c.2282T>A (p.Val761Asp)
c.2300T>A (p.Val767Asp)
c.1604T>A (p.Val535Asp)
c.1286-152T>A (n.1286-152T>A)
c.495T>A
n.3332T>A
n.1879T>A
c.2390T>A (p.Val797Asp)
n.212-3835T>A
c.2438T>A (p.Val813Asp)
c.2498T>A (p.Val833Asp)
c.350T>A (p.Val117Asp)
c.2120T>A (p.Val707Asp)
c.1202T>A (p.Val401Asp)
n.2753T>A
13g.51950314C>ACA388016105ATP7Bc.*366G>T (n.*366G>T)
c.*1277G>T (n.*1277G>T)
c.2047G>T (p.Val683Phe)
c.2533G>T (p.Val845Phe)
c.2200G>T (p.Val734Phe)
c.2281G>T (p.Val761Phe)
c.2299G>T (p.Val767Phe)
c.1603G>T (p.Val535Phe)
c.1286-153G>T (n.1286-153G>T)
c.494G>T
n.3331G>T
n.1878G>T
c.2389G>T (p.Val797Phe)
n.212-3836G>T
c.2437G>T (p.Val813Phe)
c.2497G>T (p.Val833Phe)
c.349G>T (p.Val117Phe)
c.2119G>T (p.Val707Phe)
c.1201G>T (p.Val401Phe)
n.2752G>T
13g.51950314C>GCA388016109ATP7Bc.*366G>C (n.*366G>C)
c.*1277G>C (n.*1277G>C)
c.2047G>C (p.Val683Leu)
c.2533G>C (p.Val845Leu)
c.2200G>C (p.Val734Leu)
c.2281G>C (p.Val761Leu)
c.2299G>C (p.Val767Leu)
c.1603G>C (p.Val535Leu)
c.1286-153G>C (n.1286-153G>C)
c.494G>C
n.3331G>C
n.1878G>C
c.2389G>C (p.Val797Leu)
n.212-3836G>C
c.2437G>C (p.Val813Leu)
c.2497G>C (p.Val833Leu)
c.349G>C (p.Val117Leu)
c.2119G>C (p.Val707Leu)
c.1201G>C (p.Val401Leu)
n.2752G>C
13g.51950314C>TCA388016124ATP7Bc.*366G>A (n.*366G>A)
c.*1277G>A (n.*1277G>A)
c.2047G>A (p.Val683Ile)
c.2533G>A (p.Val845Ile)
c.2200G>A (p.Val734Ile)
c.2281G>A (p.Val761Ile)
c.2299G>A (p.Val767Ile)
c.1603G>A (p.Val535Ile)
c.1286-153G>A (n.1286-153G>A)
c.494G>A
n.3331G>A
n.1878G>A
c.2389G>A (p.Val797Ile)
n.212-3836G>A
c.2437G>A (p.Val813Ile)
c.2497G>A (p.Val833Ile)
c.349G>A (p.Val117Ile)
c.2119G>A (p.Val707Ile)
c.1201G>A (p.Val401Ile)
n.2752G>A
13g.51950314_51950315delinsCTCA2091542332ATP7Bc.*365_*366delinsAG (n.*365_*366delinsAG)
c.*1276_*1277delinsAG (n.*1276_*1277delinsAG)
c.2046_2047delinsAG (p.Lys682=)
c.2532_2533delinsAG (p.Lys844=)
c.2199_2200delinsAG (p.Lys733=)
c.2280_2281delinsAG (p.Lys760=)
c.2298_2299delinsAG (p.Lys766=)
c.1602_1603delinsAG (p.Lys534=)
c.1286-154_1286-153delinsAG (n.1286-154_1286-153delinsAG)
c.493_494delinsAG
n.3330_3331delinsAG
n.1877_1878delinsAG
c.2388_2389delinsAG (p.Lys796=)
n.212-3837_212-3836delinsAG
c.2436_2437delinsAG (p.Lys812=)
c.2496_2497delinsAG (p.Lys832=)
c.348_349delinsAG (p.Lys116=)
c.2118_2119delinsAG (p.Lys706=)
c.1200_1201delinsAG (p.Lys400=)
n.2751_2752delinsAG
13g.51950315T>ACA388016127ATP7Bc.*365A>T (n.*365A>T)
c.*1276A>T (n.*1276A>T)
c.2046A>T (p.Lys682Asn)
c.2532A>T (p.Lys844Asn)
c.2199A>T (p.Lys733Asn)
c.2280A>T (p.Lys760Asn)
c.2298A>T (p.Lys766Asn)
c.1602A>T (p.Lys534Asn)
c.1286-154A>T (n.1286-154A>T)
c.493A>T
n.3330A>T
n.1877A>T
c.2388A>T (p.Lys796Asn)
n.212-3837A>T
c.2436A>T (p.Lys812Asn)
c.2496A>T (p.Lys832Asn)
c.348A>T (p.Lys116Asn)
c.2118A>T (p.Lys706Asn)
c.1200A>T (p.Lys400Asn)
n.2751A>T
13g.51950315T>CCA483895752ATP7Bc.*365A>G (n.*365A>G)
c.*1276A>G (n.*1276A>G)
c.2046A>G (p.Lys682=)
c.2532A>G (p.Lys844=)
c.2199A>G (p.Lys733=)
c.2280A>G (p.Lys760=)
c.2298A>G (p.Lys766=)
c.1602A>G (p.Lys534=)
c.1286-154A>G (n.1286-154A>G)
c.493A>G
n.3330A>G
n.1877A>G
c.2388A>G (p.Lys796=)
n.212-3837A>G
c.2436A>G (p.Lys812=)
c.2496A>G (p.Lys832=)
c.348A>G (p.Lys116=)
c.2118A>G (p.Lys706=)
c.1200A>G (p.Lys400=)
n.2751A>G
 ClinVar
13g.51950315T>GCA388016130ATP7Bc.*365A>C (n.*365A>C)
c.*1276A>C (n.*1276A>C)
c.2046A>C (p.Lys682Asn)
c.2532A>C (p.Lys844Asn)
c.2199A>C (p.Lys733Asn)
c.2280A>C (p.Lys760Asn)
c.2298A>C (p.Lys766Asn)
c.1602A>C (p.Lys534Asn)
c.1286-154A>C (n.1286-154A>C)
c.493A>C
n.3330A>C
n.1877A>C
c.2388A>C (p.Lys796Asn)
n.212-3837A>C
c.2436A>C (p.Lys812Asn)
c.2496A>C (p.Lys832Asn)
c.348A>C (p.Lys116Asn)
c.2118A>C (p.Lys706Asn)
c.1200A>C (p.Lys400Asn)
n.2751A>C
13g.51950317delCA274077ATP7Bc.*365del (n.*365del)
c.*1276del (n.*1276del)
c.2046del (p.Val683SerfsTer28)
c.2532del (p.Val845SerfsTer28)
c.2199del (p.Val734SerfsTer28)
c.2280del (p.Val761SerfsTer28)
c.2298del (p.Val767SerfsTer28)
c.1602del (p.Val535SerfsTer28)
c.1286-154del (n.1286-154del)
c.493del
n.3330del
n.1877del
c.2388del (p.Val797SerfsTer28)
n.212-3837del
c.2436del (p.Val813SerfsTer28)
c.2496del (p.Val833SerfsTer28)
c.348del (p.Val117SerfsTer28)
c.2118del (p.Val707SerfsTer28)
c.1200del (p.Val401SerfsTer28)
n.2751del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950316T>ACA388016136ATP7Bc.*364A>T (n.*364A>T)
c.*1275A>T (n.*1275A>T)
c.2045A>T (p.Lys682Ile)
c.2531A>T (p.Lys844Ile)
c.2198A>T (p.Lys733Ile)
c.2279A>T (p.Lys760Ile)
c.2297A>T (p.Lys766Ile)
c.1601A>T (p.Lys534Ile)
c.1286-155A>T (n.1286-155A>T)
c.492A>T
n.3329A>T
n.1876A>T
c.2387A>T (p.Lys796Ile)
n.212-3838A>T
c.2435A>T (p.Lys812Ile)
c.2495A>T (p.Lys832Ile)
c.347A>T (p.Lys116Ile)
c.2117A>T (p.Lys706Ile)
c.1199A>T (p.Lys400Ile)
n.2750A>T
13g.51950316T>CCA388016139ATP7Bc.*364A>G (n.*364A>G)
c.*1275A>G (n.*1275A>G)
c.2045A>G (p.Lys682Arg)
c.2531A>G (p.Lys844Arg)
c.2198A>G (p.Lys733Arg)
c.2279A>G (p.Lys760Arg)
c.2297A>G (p.Lys766Arg)
c.1601A>G (p.Lys534Arg)
c.1286-155A>G (n.1286-155A>G)
c.492A>G
n.3329A>G
n.1876A>G
c.2387A>G (p.Lys796Arg)
n.212-3838A>G
c.2435A>G (p.Lys812Arg)
c.2495A>G (p.Lys832Arg)
c.347A>G (p.Lys116Arg)
c.2117A>G (p.Lys706Arg)
c.1199A>G (p.Lys400Arg)
n.2750A>G
13g.51950316T>GCA388016144ATP7Bc.*364A>C (n.*364A>C)
c.*1275A>C (n.*1275A>C)
c.2045A>C (p.Lys682Thr)
c.2531A>C (p.Lys844Thr)
c.2198A>C (p.Lys733Thr)
c.2279A>C (p.Lys760Thr)
c.2297A>C (p.Lys766Thr)
c.1601A>C (p.Lys534Thr)
c.1286-155A>C (n.1286-155A>C)
c.492A>C
n.3329A>C
n.1876A>C
c.2387A>C (p.Lys796Thr)
n.212-3838A>C
c.2435A>C (p.Lys812Thr)
c.2495A>C (p.Lys832Thr)
c.347A>C (p.Lys116Thr)
c.2117A>C (p.Lys706Thr)
c.1199A>C (p.Lys400Thr)
n.2750A>C
13g.51950317T>ACA6988982ATP7Bc.*363A>T (n.*363A>T)
c.*1274A>T (n.*1274A>T)
c.2044A>T (p.Lys682Ter)
c.2530A>T (p.Lys844Ter)
c.2197A>T (p.Lys733Ter)
c.2278A>T (p.Lys760Ter)
c.2296A>T (p.Lys766Ter)
c.1600A>T (p.Lys534Ter)
c.1286-156A>T (n.1286-156A>T)
c.491A>T
n.3328A>T
n.1875A>T
c.2386A>T (p.Lys796Ter)
n.212-3839A>T
c.2434A>T (p.Lys812Ter)
c.2494A>T (p.Lys832Ter)
c.346A>T (p.Lys116Ter)
c.2116A>T (p.Lys706Ter)
c.1198A>T (p.Lys400Ter)
n.2749A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950317T>CCA388016146ATP7Bc.*363A>G (n.*363A>G)
c.*1274A>G (n.*1274A>G)
c.2044A>G (p.Lys682Glu)
c.2530A>G (p.Lys844Glu)
c.2197A>G (p.Lys733Glu)
c.2278A>G (p.Lys760Glu)
c.2296A>G (p.Lys766Glu)
c.1600A>G (p.Lys534Glu)
c.1286-156A>G (n.1286-156A>G)
c.491A>G
n.3328A>G
n.1875A>G
c.2386A>G (p.Lys796Glu)
n.212-3839A>G
c.2434A>G (p.Lys812Glu)
c.2494A>G (p.Lys832Glu)
c.346A>G (p.Lys116Glu)
c.2116A>G (p.Lys706Glu)
c.1198A>G (p.Lys400Glu)
n.2749A>G
 dbSNP
13g.51950317T>GCA388016147ATP7Bc.*363A>C (n.*363A>C)
c.*1274A>C (n.*1274A>C)
c.2044A>C (p.Lys682Gln)
c.2530A>C (p.Lys844Gln)
c.2197A>C (p.Lys733Gln)
c.2278A>C (p.Lys760Gln)
c.2296A>C (p.Lys766Gln)
c.1600A>C (p.Lys534Gln)
c.1286-156A>C (n.1286-156A>C)
c.491A>C
n.3328A>C
n.1875A>C
c.2386A>C (p.Lys796Gln)
n.212-3839A>C
c.2434A>C (p.Lys812Gln)
c.2494A>C (p.Lys832Gln)
c.346A>C (p.Lys116Gln)
c.2116A>C (p.Lys706Gln)
c.1198A>C (p.Lys400Gln)
n.2749A>C
13g.51950317T=CA2091542341ATP7Bc.*363A= (n.*363A=)
c.*1274A= (n.*1274A=)
c.2044A= (p.Lys682=)
c.2530A= (p.Lys844=)
c.2197A= (p.Lys733=)
c.2278A= (p.Lys760=)
c.2296A= (p.Lys766=)
c.1600A= (p.Lys534=)
c.1286-156A= (n.1286-156A=)
c.491A=
n.3328A=
n.1875A=
c.2386A= (p.Lys796=)
n.212-3839A=
c.2434A= (p.Lys812=)
c.2494A= (p.Lys832=)
c.346A= (p.Lys116=)
c.2116A= (p.Lys706=)
c.1198A= (p.Lys400=)
n.2749A=
13g.51950318C>ACA483895753ATP7Bc.*362G>T (n.*362G>T)
c.*1273G>T (n.*1273G>T)
c.2043G>T (p.Gly681=)
c.2529G>T (p.Gly843=)
c.2196G>T (p.Gly732=)
c.2277G>T (p.Gly759=)
c.2295G>T (p.Gly765=)
c.1599G>T (p.Gly533=)
c.1286-157G>T (n.1286-157G>T)
c.490G>T
n.3327G>T
n.1874G>T
c.2385G>T (p.Gly795=)
n.212-3840G>T
c.2433G>T (p.Gly811=)
c.2493G>T (p.Gly831=)
c.345G>T (p.Gly115=)
c.2115G>T (p.Gly705=)
c.1197G>T (p.Gly399=)
n.2748G>T
13g.51950318C=CA2091542349ATP7Bc.*362G= (n.*362G=)
c.*1273G= (n.*1273G=)
c.2043G= (p.Gly681=)
c.2529G= (p.Gly843=)
c.2196G= (p.Gly732=)
c.2277G= (p.Gly759=)
c.2295G= (p.Gly765=)
c.1599G= (p.Gly533=)
c.1286-157G= (n.1286-157G=)
c.490G=
n.3327G=
n.1874G=
c.2385G= (p.Gly795=)
n.212-3840G=
c.2433G= (p.Gly811=)
c.2493G= (p.Gly831=)
c.345G= (p.Gly115=)
c.2115G= (p.Gly705=)
c.1197G= (p.Gly399=)
n.2748G=
13g.51950318C>GCA483895754ATP7Bc.*362G>C (n.*362G>C)
c.*1273G>C (n.*1273G>C)
c.2043G>C (p.Gly681=)
c.2529G>C (p.Gly843=)
c.2196G>C (p.Gly732=)
c.2277G>C (p.Gly759=)
c.2295G>C (p.Gly765=)
c.1599G>C (p.Gly533=)
c.1286-157G>C (n.1286-157G>C)
c.490G>C
n.3327G>C
n.1874G>C
c.2385G>C (p.Gly795=)
n.212-3840G>C
c.2433G>C (p.Gly811=)
c.2493G>C (p.Gly831=)
c.345G>C (p.Gly115=)
c.2115G>C (p.Gly705=)
c.1197G>C (p.Gly399=)
n.2748G>C
 gnomAD v4
13g.51950318C>TCA6988983ATP7Bc.*362G>A (n.*362G>A)
c.*1273G>A (n.*1273G>A)
c.2043G>A (p.Gly681=)
c.2529G>A (p.Gly843=)
c.2196G>A (p.Gly732=)
c.2277G>A (p.Gly759=)
c.2295G>A (p.Gly765=)
c.1599G>A (p.Gly533=)
c.1286-157G>A (n.1286-157G>A)
c.490G>A
n.3327G>A
n.1874G>A
c.2385G>A (p.Gly795=)
n.212-3840G>A
c.2433G>A (p.Gly811=)
c.2493G>A (p.Gly831=)
c.345G>A (p.Gly115=)
c.2115G>A (p.Gly705=)
c.1197G>A (p.Gly399=)
n.2748G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950319C>ACA388016151ATP7Bc.*361G>T (n.*361G>T)
c.*1272G>T (n.*1272G>T)
c.2042G>T (p.Gly681Val)
c.2528G>T (p.Gly843Val)
c.2195G>T (p.Gly732Val)
c.2276G>T (p.Gly759Val)
c.2294G>T (p.Gly765Val)
c.1598G>T (p.Gly533Val)
c.1286-158G>T (n.1286-158G>T)
c.489G>T
n.3326G>T
n.1873G>T
c.2384G>T (p.Gly795Val)
n.212-3841G>T
c.2432G>T (p.Gly811Val)
c.2492G>T (p.Gly831Val)
c.344G>T (p.Gly115Val)
c.2114G>T (p.Gly705Val)
c.1196G>T (p.Gly399Val)
n.2747G>T
13g.51950319C>GCA388016156ATP7Bc.*361G>C (n.*361G>C)
c.*1272G>C (n.*1272G>C)
c.2042G>C (p.Gly681Ala)
c.2528G>C (p.Gly843Ala)
c.2195G>C (p.Gly732Ala)
c.2276G>C (p.Gly759Ala)
c.2294G>C (p.Gly765Ala)
c.1598G>C (p.Gly533Ala)
c.1286-158G>C (n.1286-158G>C)
c.489G>C
n.3326G>C
n.1873G>C
c.2384G>C (p.Gly795Ala)
n.212-3841G>C
c.2432G>C (p.Gly811Ala)
c.2492G>C (p.Gly831Ala)
c.344G>C (p.Gly115Ala)
c.2114G>C (p.Gly705Ala)
c.1196G>C (p.Gly399Ala)
n.2747G>C
13g.51950319C>TCA388016163ATP7Bc.*361G>A (n.*361G>A)
c.*1272G>A (n.*1272G>A)
c.2042G>A (p.Gly681Glu)
c.2528G>A (p.Gly843Glu)
c.2195G>A (p.Gly732Glu)
c.2276G>A (p.Gly759Glu)
c.2294G>A (p.Gly765Glu)
c.1598G>A (p.Gly533Glu)
c.1286-158G>A (n.1286-158G>A)
c.489G>A
n.3326G>A
n.1873G>A
c.2384G>A (p.Gly795Glu)
n.212-3841G>A
c.2432G>A (p.Gly811Glu)
c.2492G>A (p.Gly831Glu)
c.344G>A (p.Gly115Glu)
c.2114G>A (p.Gly705Glu)
c.1196G>A (p.Gly399Glu)
n.2747G>A
13g.51950320C>ACA388016164ATP7Bc.*360G>T (n.*360G>T)
c.*1271G>T (n.*1271G>T)
c.2041G>T (p.Gly681Trp)
c.2527G>T (p.Gly843Trp)
c.2194G>T (p.Gly732Trp)
c.2275G>T (p.Gly759Trp)
c.2293G>T (p.Gly765Trp)
c.1597G>T (p.Gly533Trp)
c.1286-159G>T (n.1286-159G>T)
c.488G>T
n.3325G>T
n.1872G>T
c.2383G>T (p.Gly795Trp)
n.212-3842G>T
c.2431G>T (p.Gly811Trp)
c.2491G>T (p.Gly831Trp)
c.343G>T (p.Gly115Trp)
c.2113G>T (p.Gly705Trp)
c.1195G>T (p.Gly399Trp)
n.2746G>T
 gnomAD v4
13g.51950320C=CA2091542352ATP7Bc.*360G= (n.*360G=)
c.*1271G= (n.*1271G=)
c.2041G= (p.Gly681=)
c.2527G= (p.Gly843=)
c.2194G= (p.Gly732=)
c.2275G= (p.Gly759=)
c.2293G= (p.Gly765=)
c.1597G= (p.Gly533=)
c.1286-159G= (n.1286-159G=)
c.488G=
n.3325G=
n.1872G=
c.2383G= (p.Gly795=)
n.212-3842G=
c.2431G= (p.Gly811=)
c.2491G= (p.Gly831=)
c.343G= (p.Gly115=)
c.2113G= (p.Gly705=)
c.1195G= (p.Gly399=)
n.2746G=
13g.51950320C>GCA388016167ATP7Bc.*360G>C (n.*360G>C)
c.*1271G>C (n.*1271G>C)
c.2041G>C (p.Gly681Arg)
c.2527G>C (p.Gly843Arg)
c.2194G>C (p.Gly732Arg)
c.2275G>C (p.Gly759Arg)
c.2293G>C (p.Gly765Arg)
c.1597G>C (p.Gly533Arg)
c.1286-159G>C (n.1286-159G>C)
c.488G>C
n.3325G>C
n.1872G>C
c.2383G>C (p.Gly795Arg)
n.212-3842G>C
c.2431G>C (p.Gly811Arg)
c.2491G>C (p.Gly831Arg)
c.343G>C (p.Gly115Arg)
c.2113G>C (p.Gly705Arg)
c.1195G>C (p.Gly399Arg)
n.2746G>C
13g.51950320C>TCA388016173ATP7Bc.*360G>A (n.*360G>A)
c.*1271G>A (n.*1271G>A)
c.2041G>A (p.Gly681Arg)
c.2527G>A (p.Gly843Arg)
c.2194G>A (p.Gly732Arg)
c.2275G>A (p.Gly759Arg)
c.2293G>A (p.Gly765Arg)
c.1597G>A (p.Gly533Arg)
c.1286-159G>A (n.1286-159G>A)
c.488G>A
n.3325G>A
n.1872G>A
c.2383G>A (p.Gly795Arg)
n.212-3842G>A
c.2431G>A (p.Gly811Arg)
c.2491G>A (p.Gly831Arg)
c.343G>A (p.Gly115Arg)
c.2113G>A (p.Gly705Arg)
c.1195G>A (p.Gly399Arg)
n.2746G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.51950321A>CCA388016178ATP7Bc.*359T>G (n.*359T>G)
c.*1270T>G (n.*1270T>G)
c.2040T>G (p.Asp680Glu)
c.2526T>G (p.Asp842Glu)
c.2193T>G (p.Asp731Glu)
c.2274T>G (p.Asp758Glu)
c.2292T>G (p.Asp764Glu)
c.1596T>G (p.Asp532Glu)
c.1286-160T>G (n.1286-160T>G)
c.487T>G
n.3324T>G
n.1871T>G
c.2382T>G (p.Asp794Glu)
n.212-3843T>G
c.2430T>G (p.Asp810Glu)
c.2490T>G (p.Asp830Glu)
c.342T>G (p.Asp114Glu)
c.2112T>G (p.Asp704Glu)
c.1194T>G (p.Asp398Glu)
n.2745T>G
13g.51950321A>GCA483895755ATP7Bc.*359T>C (n.*359T>C)
c.*1270T>C (n.*1270T>C)
c.2040T>C (p.Asp680=)
c.2526T>C (p.Asp842=)
c.2193T>C (p.Asp731=)
c.2274T>C (p.Asp758=)
c.2292T>C (p.Asp764=)
c.1596T>C (p.Asp532=)
c.1286-160T>C (n.1286-160T>C)
c.487T>C
n.3324T>C
n.1871T>C
c.2382T>C (p.Asp794=)
n.212-3843T>C
c.2430T>C (p.Asp810=)
c.2490T>C (p.Asp830=)
c.342T>C (p.Asp114=)
c.2112T>C (p.Asp704=)
c.1194T>C (p.Asp398=)
n.2745T>C
 ClinVar
13g.51950321A>TCA388016182ATP7Bc.*359T>A (n.*359T>A)
c.*1270T>A (n.*1270T>A)
c.2040T>A (p.Asp680Glu)
c.2526T>A (p.Asp842Glu)
c.2193T>A (p.Asp731Glu)
c.2274T>A (p.Asp758Glu)
c.2292T>A (p.Asp764Glu)
c.1596T>A (p.Asp532Glu)
c.1286-160T>A (n.1286-160T>A)
c.487T>A
n.3324T>A
n.1871T>A
c.2382T>A (p.Asp794Glu)
n.212-3843T>A
c.2430T>A (p.Asp810Glu)
c.2490T>A (p.Asp830Glu)
c.342T>A (p.Asp114Glu)
c.2112T>A (p.Asp704Glu)
c.1194T>A (p.Asp398Glu)
n.2745T>A
13g.51950322T>ACA388016185ATP7Bc.*358A>T (n.*358A>T)
c.*1269A>T (n.*1269A>T)
c.2039A>T (p.Asp680Val)
c.2525A>T (p.Asp842Val)
c.2192A>T (p.Asp731Val)
c.2273A>T (p.Asp758Val)
c.2291A>T (p.Asp764Val)
c.1595A>T (p.Asp532Val)
c.1286-161A>T (n.1286-161A>T)
c.486A>T
n.3323A>T
n.1870A>T
c.2381A>T (p.Asp794Val)
n.212-3844A>T
c.2429A>T (p.Asp810Val)
c.2489A>T (p.Asp830Val)
c.341A>T (p.Asp114Val)
c.2111A>T (p.Asp704Val)
c.1193A>T (p.Asp398Val)
n.2744A>T
13g.51950322T>CCA388016186ATP7Bc.*358A>G (n.*358A>G)
c.*1269A>G (n.*1269A>G)
c.2039A>G (p.Asp680Gly)
c.2525A>G (p.Asp842Gly)
c.2192A>G (p.Asp731Gly)
c.2273A>G (p.Asp758Gly)
c.2291A>G (p.Asp764Gly)
c.1595A>G (p.Asp532Gly)
c.1286-161A>G (n.1286-161A>G)
c.486A>G
n.3323A>G
n.1870A>G
c.2381A>G (p.Asp794Gly)
n.212-3844A>G
c.2429A>G (p.Asp810Gly)
c.2489A>G (p.Asp830Gly)
c.341A>G (p.Asp114Gly)
c.2111A>G (p.Asp704Gly)
c.1193A>G (p.Asp398Gly)
n.2744A>G
13g.51950322T>GCA388016187ATP7Bc.*358A>C (n.*358A>C)
c.*1269A>C (n.*1269A>C)
c.2039A>C (p.Asp680Ala)
c.2525A>C (p.Asp842Ala)
c.2192A>C (p.Asp731Ala)
c.2273A>C (p.Asp758Ala)
c.2291A>C (p.Asp764Ala)
c.1595A>C (p.Asp532Ala)
c.1286-161A>C (n.1286-161A>C)
c.486A>C
n.3323A>C
n.1870A>C
c.2381A>C (p.Asp794Ala)
n.212-3844A>C
c.2429A>C (p.Asp810Ala)
c.2489A>C (p.Asp830Ala)
c.341A>C (p.Asp114Ala)
c.2111A>C (p.Asp704Ala)
c.1193A>C (p.Asp398Ala)
n.2744A>C
 gnomAD v4
13g.51950323C>ACA388016190ATP7Bc.*357G>T (n.*357G>T)
c.*1268G>T (n.*1268G>T)
c.2038G>T (p.Asp680Tyr)
c.2524G>T (p.Asp842Tyr)
c.2191G>T (p.Asp731Tyr)
c.2272G>T (p.Asp758Tyr)
c.2290G>T (p.Asp764Tyr)
c.1594G>T (p.Asp532Tyr)
c.1286-162G>T (n.1286-162G>T)
c.485G>T
n.3322G>T
n.1869G>T
c.2380G>T (p.Asp794Tyr)
n.212-3845G>T
c.2428G>T (p.Asp810Tyr)
c.2488G>T (p.Asp830Tyr)
c.340G>T (p.Asp114Tyr)
c.2110G>T (p.Asp704Tyr)
c.1192G>T (p.Asp398Tyr)
n.2743G>T
13g.51950323C>GCA388016194ATP7Bc.*357G>C (n.*357G>C)
c.*1268G>C (n.*1268G>C)
c.2038G>C (p.Asp680His)
c.2524G>C (p.Asp842His)
c.2191G>C (p.Asp731His)
c.2272G>C (p.Asp758His)
c.2290G>C (p.Asp764His)
c.1594G>C (p.Asp532His)
c.1286-162G>C (n.1286-162G>C)
c.485G>C
n.3322G>C
n.1869G>C
c.2380G>C (p.Asp794His)
n.212-3845G>C
c.2428G>C (p.Asp810His)
c.2488G>C (p.Asp830His)
c.340G>C (p.Asp114His)
c.2110G>C (p.Asp704His)
c.1192G>C (p.Asp398His)
n.2743G>C
13g.51950323C>TCA388016199ATP7Bc.*357G>A (n.*357G>A)
c.*1268G>A (n.*1268G>A)
c.2038G>A (p.Asp680Asn)
c.2524G>A (p.Asp842Asn)
c.2191G>A (p.Asp731Asn)
c.2272G>A (p.Asp758Asn)
c.2290G>A (p.Asp764Asn)
c.1594G>A (p.Asp532Asn)
c.1286-162G>A (n.1286-162G>A)
c.485G>A
n.3322G>A
n.1869G>A
c.2380G>A (p.Asp794Asn)
n.212-3845G>A
c.2428G>A (p.Asp810Asn)
c.2488G>A (p.Asp830Asn)
c.340G>A (p.Asp114Asn)
c.2110G>A (p.Asp704Asn)
c.1192G>A (p.Asp398Asn)
n.2743G>A
13g.51950323_51950341dupCA2623118778ATP7Bc.*339_*357dup (n.*339_*357dup)
c.*1250_*1268dup (n.*1250_*1268dup)
c.2020_2038dup (p.Asp680GlyfsTer18)
c.2506_2524dup (p.Asp842GlyfsTer18)
c.2173_2191dup (p.Asp731GlyfsTer18)
c.2254_2272dup (p.Asp758GlyfsTer18)
c.2272_2290dup (p.Asp764GlyfsTer18)
c.1576_1594dup (p.Asp532GlyfsTer18)
c.1286-180_1286-162dup (n.1286-180_1286-162dup)
c.467_485dup
n.3304_3322dup
n.1851_1869dup
c.2362_2380dup (p.Asp794GlyfsTer18)
n.212-3863_212-3845dup
c.2410_2428dup (p.Asp810GlyfsTer18)
c.2470_2488dup (p.Asp830GlyfsTer18)
c.322_340dup (p.Asp114GlyfsTer18)
c.2092_2110dup (p.Asp704GlyfsTer18)
c.1174_1192dup (p.Asp398GlyfsTer18)
n.2725_2743dup
 gnomAD v4
13g.51950324C>ACA483895757ATP7Bc.*356G>T (n.*356G>T)
c.*1267G>T (n.*1267G>T)
c.2037G>T (p.Val679=)
c.2523G>T (p.Val841=)
c.2190G>T (p.Val730=)
c.2271G>T (p.Val757=)
c.2289G>T (p.Val763=)
c.1593G>T (p.Val531=)
c.1286-163G>T (n.1286-163G>T)
c.484G>T
n.3321G>T
n.1868G>T
c.2379G>T (p.Val793=)
n.212-3846G>T
c.2427G>T (p.Val809=)
c.2487G>T (p.Val829=)
c.339G>T (p.Val113=)
c.2109G>T (p.Val703=)
c.1191G>T (p.Val397=)
n.2742G>T
13g.51950324C>GCA483895758ATP7Bc.*356G>C (n.*356G>C)
c.*1267G>C (n.*1267G>C)
c.2037G>C (p.Val679=)
c.2523G>C (p.Val841=)
c.2190G>C (p.Val730=)
c.2271G>C (p.Val757=)
c.2289G>C (p.Val763=)
c.1593G>C (p.Val531=)
c.1286-163G>C (n.1286-163G>C)
c.484G>C
n.3321G>C
n.1868G>C
c.2379G>C (p.Val793=)
n.212-3846G>C
c.2427G>C (p.Val809=)
c.2487G>C (p.Val829=)
c.339G>C (p.Val113=)
c.2109G>C (p.Val703=)
c.1191G>C (p.Val397=)
n.2742G>C
13g.51950324C>TCA483895759ATP7Bc.*356G>A (n.*356G>A)
c.*1267G>A (n.*1267G>A)
c.2037G>A (p.Val679=)
c.2523G>A (p.Val841=)
c.2190G>A (p.Val730=)
c.2271G>A (p.Val757=)
c.2289G>A (p.Val763=)
c.1593G>A (p.Val531=)
c.1286-163G>A (n.1286-163G>A)
c.484G>A
n.3321G>A
n.1868G>A
c.2379G>A (p.Val793=)
n.212-3846G>A
c.2427G>A (p.Val809=)
c.2487G>A (p.Val829=)
c.339G>A (p.Val113=)
c.2109G>A (p.Val703=)
c.1191G>A (p.Val397=)
n.2742G>A
13g.51950325A>CCA388016207ATP7Bc.*355T>G (n.*355T>G)
c.*1266T>G (n.*1266T>G)
c.2036T>G (p.Val679Gly)
c.2522T>G (p.Val841Gly)
c.2189T>G (p.Val730Gly)
c.2270T>G (p.Val757Gly)
c.2288T>G (p.Val763Gly)
c.1592T>G (p.Val531Gly)
c.1286-164T>G (n.1286-164T>G)
c.483T>G
n.3320T>G
n.1867T>G
c.2378T>G (p.Val793Gly)
n.212-3847T>G
c.2426T>G (p.Val809Gly)
c.2486T>G (p.Val829Gly)
c.338T>G (p.Val113Gly)
c.2108T>G (p.Val703Gly)
c.1190T>G (p.Val397Gly)
n.2741T>G
13g.51950325A>GCA388016214ATP7Bc.*355T>C (n.*355T>C)
c.*1266T>C (n.*1266T>C)
c.2036T>C (p.Val679Ala)
c.2522T>C (p.Val841Ala)
c.2189T>C (p.Val730Ala)
c.2270T>C (p.Val757Ala)
c.2288T>C (p.Val763Ala)
c.1592T>C (p.Val531Ala)
c.1286-164T>C (n.1286-164T>C)
c.483T>C
n.3320T>C
n.1867T>C
c.2378T>C (p.Val793Ala)
n.212-3847T>C
c.2426T>C (p.Val809Ala)
c.2486T>C (p.Val829Ala)
c.338T>C (p.Val113Ala)
c.2108T>C (p.Val703Ala)
c.1190T>C (p.Val397Ala)
n.2741T>C
13g.51950325A>TCA388016218ATP7Bc.*355T>A (n.*355T>A)
c.*1266T>A (n.*1266T>A)
c.2036T>A (p.Val679Glu)
c.2522T>A (p.Val841Glu)
c.2189T>A (p.Val730Glu)
c.2270T>A (p.Val757Glu)
c.2288T>A (p.Val763Glu)
c.1592T>A (p.Val531Glu)
c.1286-164T>A (n.1286-164T>A)
c.483T>A
n.3320T>A
n.1867T>A
c.2378T>A (p.Val793Glu)
n.212-3847T>A
c.2426T>A (p.Val809Glu)
c.2486T>A (p.Val829Glu)
c.338T>A (p.Val113Glu)
c.2108T>A (p.Val703Glu)
c.1190T>A (p.Val397Glu)
n.2741T>A
13g.51950326C>ACA388016221ATP7Bc.*354G>T (n.*354G>T)
c.*1265G>T (n.*1265G>T)
c.2035G>T (p.Val679Leu)
c.2521G>T (p.Val841Leu)
c.2188G>T (p.Val730Leu)
c.2269G>T (p.Val757Leu)
c.2287G>T (p.Val763Leu)
c.1591G>T (p.Val531Leu)
c.1286-165G>T (n.1286-165G>T)
c.482G>T
n.3319G>T
n.1866G>T
c.2377G>T (p.Val793Leu)
n.212-3848G>T
c.2425G>T (p.Val809Leu)
c.2485G>T (p.Val829Leu)
c.337G>T (p.Val113Leu)
c.2107G>T (p.Val703Leu)
c.1189G>T (p.Val397Leu)
n.2740G>T
13g.51950326C>GCA388016224ATP7Bc.*354G>C (n.*354G>C)
c.*1265G>C (n.*1265G>C)
c.2035G>C (p.Val679Leu)
c.2521G>C (p.Val841Leu)
c.2188G>C (p.Val730Leu)
c.2269G>C (p.Val757Leu)
c.2287G>C (p.Val763Leu)
c.1591G>C (p.Val531Leu)
c.1286-165G>C (n.1286-165G>C)
c.482G>C
n.3319G>C
n.1866G>C
c.2377G>C (p.Val793Leu)
n.212-3848G>C
c.2425G>C (p.Val809Leu)
c.2485G>C (p.Val829Leu)
c.337G>C (p.Val113Leu)
c.2107G>C (p.Val703Leu)
c.1189G>C (p.Val397Leu)
n.2740G>C
13g.51950326C>TCA388016228ATP7Bc.*354G>A (n.*354G>A)
c.*1265G>A (n.*1265G>A)
c.2035G>A (p.Val679Met)
c.2521G>A (p.Val841Met)
c.2188G>A (p.Val730Met)
c.2269G>A (p.Val757Met)
c.2287G>A (p.Val763Met)
c.1591G>A (p.Val531Met)
c.1286-165G>A (n.1286-165G>A)
c.482G>A
n.3319G>A
n.1866G>A
c.2377G>A (p.Val793Met)
n.212-3848G>A
c.2425G>A (p.Val809Met)
c.2485G>A (p.Val829Met)
c.337G>A (p.Val113Met)
c.2107G>A (p.Val703Met)
c.1189G>A (p.Val397Met)
n.2740G>A
13g.51950327T>ACA483895760ATP7Bc.*353A>T (n.*353A>T)
c.*1264A>T (n.*1264A>T)
c.2034A>T (p.Pro678=)
c.2520A>T (p.Pro840=)
c.2187A>T (p.Pro729=)
c.2268A>T (p.Pro756=)
c.2286A>T (p.Pro762=)
c.1590A>T (p.Pro530=)
c.1286-166A>T (n.1286-166A>T)
c.481A>T
n.3318A>T
n.1865A>T
c.2376A>T (p.Pro792=)
n.212-3849A>T
c.2424A>T (p.Pro808=)
c.2484A>T (p.Pro828=)
c.336A>T (p.Pro112=)
c.2106A>T (p.Pro702=)
c.1188A>T (p.Pro396=)
n.2739A>T
 ClinVar
13g.51950327T>CCA483895761ATP7Bc.*353A>G (n.*353A>G)
c.*1264A>G (n.*1264A>G)
c.2034A>G (p.Pro678=)
c.2520A>G (p.Pro840=)
c.2187A>G (p.Pro729=)
c.2268A>G (p.Pro756=)
c.2286A>G (p.Pro762=)
c.1590A>G (p.Pro530=)
c.1286-166A>G (n.1286-166A>G)
c.481A>G
n.3318A>G
n.1865A>G
c.2376A>G (p.Pro792=)
n.212-3849A>G
c.2424A>G (p.Pro808=)
c.2484A>G (p.Pro828=)
c.336A>G (p.Pro112=)
c.2106A>G (p.Pro702=)
c.1188A>G (p.Pro396=)
n.2739A>G
 gnomAD v4
13g.51950327T>GCA483895762ATP7Bc.*353A>C (n.*353A>C)
c.*1264A>C (n.*1264A>C)
c.2034A>C (p.Pro678=)
c.2520A>C (p.Pro840=)
c.2187A>C (p.Pro729=)
c.2268A>C (p.Pro756=)
c.2286A>C (p.Pro762=)
c.1590A>C (p.Pro530=)
c.1286-166A>C (n.1286-166A>C)
c.481A>C
n.3318A>C
n.1865A>C
c.2376A>C (p.Pro792=)
n.212-3849A>C
c.2424A>C (p.Pro808=)
c.2484A>C (p.Pro828=)
c.336A>C (p.Pro112=)
c.2106A>C (p.Pro702=)
c.1188A>C (p.Pro396=)
n.2739A>C
13g.51950328G>ACA274072ATP7Bc.*352C>T (n.*352C>T)
c.*1263C>T (n.*1263C>T)
c.2033C>T (p.Pro678Leu)
c.2519C>T (p.Pro840Leu)
c.2186C>T (p.Pro729Leu)
c.2267C>T (p.Pro756Leu)
c.2285C>T (p.Pro762Leu)
c.1589C>T (p.Pro530Leu)
c.1286-167C>T (n.1286-167C>T)
c.480C>T
n.3317C>T
n.1864C>T
c.2375C>T (p.Pro792Leu)
n.212-3850C>T
c.2423C>T (p.Pro808Leu)
c.2483C>T (p.Pro828Leu)
c.335C>T (p.Pro112Leu)
c.2105C>T (p.Pro702Leu)
c.1187C>T (p.Pro396Leu)
n.2738C>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
13g.51950328G>CCA388016243ATP7Bc.*352C>G (n.*352C>G)
c.*1263C>G (n.*1263C>G)
c.2033C>G (p.Pro678Arg)
c.2519C>G (p.Pro840Arg)
c.2186C>G (p.Pro729Arg)
c.2267C>G (p.Pro756Arg)
c.2285C>G (p.Pro762Arg)
c.1589C>G (p.Pro530Arg)
c.1286-167C>G (n.1286-167C>G)
c.480C>G
n.3317C>G
n.1864C>G
c.2375C>G (p.Pro792Arg)
n.212-3850C>G
c.2423C>G (p.Pro808Arg)
c.2483C>G (p.Pro828Arg)
c.335C>G (p.Pro112Arg)
c.2105C>G (p.Pro702Arg)
c.1187C>G (p.Pro396Arg)
n.2738C>G
13g.51950328G=CA2091542358ATP7Bc.*352C= (n.*352C=)
c.*1263C= (n.*1263C=)
c.2033C= (p.Pro678=)
c.2519C= (p.Pro840=)
c.2186C= (p.Pro729=)
c.2267C= (p.Pro756=)
c.2285C= (p.Pro762=)
c.1589C= (p.Pro530=)
c.1286-167C= (n.1286-167C=)
c.480C=
n.3317C=
n.1864C=
c.2375C= (p.Pro792=)
n.212-3850C=
c.2423C= (p.Pro808=)
c.2483C= (p.Pro828=)
c.335C= (p.Pro112=)
c.2105C= (p.Pro702=)
c.1187C= (p.Pro396=)
n.2738C=
13g.51950328G>TCA388016236ATP7Bc.*352C>A (n.*352C>A)
c.*1263C>A (n.*1263C>A)
c.2033C>A (p.Pro678Gln)
c.2519C>A (p.Pro840Gln)
c.2186C>A (p.Pro729Gln)
c.2267C>A (p.Pro756Gln)
c.2285C>A (p.Pro762Gln)
c.1589C>A (p.Pro530Gln)
c.1286-167C>A (n.1286-167C>A)
c.480C>A
n.3317C>A
n.1864C>A
c.2375C>A (p.Pro792Gln)
n.212-3850C>A
c.2423C>A (p.Pro808Gln)
c.2483C>A (p.Pro828Gln)
c.335C>A (p.Pro112Gln)
c.2105C>A (p.Pro702Gln)
c.1187C>A (p.Pro396Gln)
n.2738C>A
13g.51950329G>ACA388016266ATP7Bc.*351C>T (n.*351C>T)
c.*1262C>T (n.*1262C>T)
c.2032C>T (p.Pro678Ser)
c.2518C>T (p.Pro840Ser)
c.2185C>T (p.Pro729Ser)
c.2266C>T (p.Pro756Ser)
c.2284C>T (p.Pro762Ser)
c.1588C>T (p.Pro530Ser)
c.1286-168C>T (n.1286-168C>T)
c.479C>T
n.3316C>T
n.1863C>T
c.2374C>T (p.Pro792Ser)
n.212-3851C>T
c.2422C>T (p.Pro808Ser)
c.2482C>T (p.Pro828Ser)
c.334C>T (p.Pro112Ser)
c.2104C>T (p.Pro702Ser)
c.1186C>T (p.Pro396Ser)
n.2737C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51950329G>CCA388016252ATP7Bc.*351C>G (n.*351C>G)
c.*1262C>G (n.*1262C>G)
c.2032C>G (p.Pro678Ala)
c.2518C>G (p.Pro840Ala)
c.2185C>G (p.Pro729Ala)
c.2266C>G (p.Pro756Ala)
c.2284C>G (p.Pro762Ala)
c.1588C>G (p.Pro530Ala)
c.1286-168C>G (n.1286-168C>G)
c.479C>G
n.3316C>G
n.1863C>G
c.2374C>G (p.Pro792Ala)
n.212-3851C>G
c.2422C>G (p.Pro808Ala)
c.2482C>G (p.Pro828Ala)
c.334C>G (p.Pro112Ala)
c.2104C>G (p.Pro702Ala)
c.1186C>G (p.Pro396Ala)
n.2737C>G
13g.51950329G=CA2091542362ATP7Bc.*351C= (n.*351C=)
c.*1262C= (n.*1262C=)
c.2032C= (p.Pro678=)
c.2518C= (p.Pro840=)
c.2185C= (p.Pro729=)
c.2266C= (p.Pro756=)
c.2284C= (p.Pro762=)
c.1588C= (p.Pro530=)
c.1286-168C= (n.1286-168C=)
c.479C=
n.3316C=
n.1863C=
c.2374C= (p.Pro792=)
n.212-3851C=
c.2422C= (p.Pro808=)
c.2482C= (p.Pro828=)
c.334C= (p.Pro112=)
c.2104C= (p.Pro702=)
c.1186C= (p.Pro396=)
n.2737C=
13g.51950329G>TCA250058560ATP7Bc.*351C>A (n.*351C>A)
c.*1262C>A (n.*1262C>A)
c.2032C>A (p.Pro678Thr)
c.2518C>A (p.Pro840Thr)
c.2185C>A (p.Pro729Thr)
c.2266C>A (p.Pro756Thr)
c.2284C>A (p.Pro762Thr)
c.1588C>A (p.Pro530Thr)
c.1286-168C>A (n.1286-168C>A)
c.479C>A
n.3316C>A
n.1863C>A
c.2374C>A (p.Pro792Thr)
n.212-3851C>A
c.2422C>A (p.Pro808Thr)
c.2482C>A (p.Pro828Thr)
c.334C>A (p.Pro112Thr)
c.2104C>A (p.Pro702Thr)
c.1186C>A (p.Pro396Thr)
n.2737C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950330A=CA2091542367ATP7Bc.*350T= (n.*350T=)
c.*1261T= (n.*1261T=)
c.2031T= (p.Phe677=)
c.2517T= (p.Phe839=)
c.2184T= (p.Phe728=)
c.2265T= (p.Phe755=)
c.2283T= (p.Phe761=)
c.1587T= (p.Phe529=)
c.1286-169T= (n.1286-169T=)
c.478T=
n.3315T=
n.1862T=
c.2373T= (p.Phe791=)
n.212-3852T=
c.2421T= (p.Phe807=)
c.2481T= (p.Phe827=)
c.333T= (p.Phe111=)
c.2103T= (p.Phe701=)
c.1185T= (p.Phe395=)
n.2736T=
13g.51950330A>CCA388016270ATP7Bc.*350T>G (n.*350T>G)
c.*1261T>G (n.*1261T>G)
c.2031T>G (p.Phe677Leu)
c.2517T>G (p.Phe839Leu)
c.2184T>G (p.Phe728Leu)
c.2265T>G (p.Phe755Leu)
c.2283T>G (p.Phe761Leu)
c.1587T>G (p.Phe529Leu)
c.1286-169T>G (n.1286-169T>G)
c.478T>G
n.3315T>G
n.1862T>G
c.2373T>G (p.Phe791Leu)
n.212-3852T>G
c.2421T>G (p.Phe807Leu)
c.2481T>G (p.Phe827Leu)
c.333T>G (p.Phe111Leu)
c.2103T>G (p.Phe701Leu)
c.1185T>G (p.Phe395Leu)
n.2736T>G
 dbSNP gnomAD v3 gnomAD v4
13g.51950330A>GCA483895763ATP7Bc.*350T>C (n.*350T>C)
c.*1261T>C (n.*1261T>C)
c.2031T>C (p.Phe677=)
c.2517T>C (p.Phe839=)
c.2184T>C (p.Phe728=)
c.2265T>C (p.Phe755=)
c.2283T>C (p.Phe761=)
c.1587T>C (p.Phe529=)
c.1286-169T>C (n.1286-169T>C)
c.478T>C
n.3315T>C
n.1862T>C
c.2373T>C (p.Phe791=)
n.212-3852T>C
c.2421T>C (p.Phe807=)
c.2481T>C (p.Phe827=)
c.333T>C (p.Phe111=)
c.2103T>C (p.Phe701=)
c.1185T>C (p.Phe395=)
n.2736T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51950330A>TCA388016276ATP7Bc.*350T>A (n.*350T>A)
c.*1261T>A (n.*1261T>A)
c.2031T>A (p.Phe677Leu)
c.2517T>A (p.Phe839Leu)
c.2184T>A (p.Phe728Leu)
c.2265T>A (p.Phe755Leu)
c.2283T>A (p.Phe761Leu)
c.1587T>A (p.Phe529Leu)
c.1286-169T>A (n.1286-169T>A)
c.478T>A
n.3315T>A
n.1862T>A
c.2373T>A (p.Phe791Leu)
n.212-3852T>A
c.2421T>A (p.Phe807Leu)
c.2481T>A (p.Phe827Leu)
c.333T>A (p.Phe111Leu)
c.2103T>A (p.Phe701Leu)
c.1185T>A (p.Phe395Leu)
n.2736T>A
13g.51950331A>CCA388016277ATP7Bc.*349T>G (n.*349T>G)
c.*1260T>G (n.*1260T>G)
c.2030T>G (p.Phe677Cys)
c.2516T>G (p.Phe839Cys)
c.2183T>G (p.Phe728Cys)
c.2264T>G (p.Phe755Cys)
c.2282T>G (p.Phe761Cys)
c.1586T>G (p.Phe529Cys)
c.1286-170T>G (n.1286-170T>G)
c.477T>G
n.3314T>G
n.1861T>G
c.2372T>G (p.Phe791Cys)
n.212-3853T>G
c.2420T>G (p.Phe807Cys)
c.2480T>G (p.Phe827Cys)
c.332T>G (p.Phe111Cys)
c.2102T>G (p.Phe701Cys)
c.1184T>G (p.Phe395Cys)
n.2735T>G
13g.51950331A>GCA388016278ATP7Bc.*349T>C (n.*349T>C)
c.*1260T>C (n.*1260T>C)
c.2030T>C (p.Phe677Ser)
c.2516T>C (p.Phe839Ser)
c.2183T>C (p.Phe728Ser)
c.2264T>C (p.Phe755Ser)
c.2282T>C (p.Phe761Ser)
c.1586T>C (p.Phe529Ser)
c.1286-170T>C (n.1286-170T>C)
c.477T>C
n.3314T>C
n.1861T>C
c.2372T>C (p.Phe791Ser)
n.212-3853T>C
c.2420T>C (p.Phe807Ser)
c.2480T>C (p.Phe827Ser)
c.332T>C (p.Phe111Ser)
c.2102T>C (p.Phe701Ser)
c.1184T>C (p.Phe395Ser)
n.2735T>C
 gnomAD v4
13g.51950331A>TCA388016281ATP7Bc.*349T>A (n.*349T>A)
c.*1260T>A (n.*1260T>A)
c.2030T>A (p.Phe677Tyr)
c.2516T>A (p.Phe839Tyr)
c.2183T>A (p.Phe728Tyr)
c.2264T>A (p.Phe755Tyr)
c.2282T>A (p.Phe761Tyr)
c.1586T>A (p.Phe529Tyr)
c.1286-170T>A (n.1286-170T>A)
c.477T>A
n.3314T>A
n.1861T>A
c.2372T>A (p.Phe791Tyr)
n.212-3853T>A
c.2420T>A (p.Phe807Tyr)
c.2480T>A (p.Phe827Tyr)
c.332T>A (p.Phe111Tyr)
c.2102T>A (p.Phe701Tyr)
c.1184T>A (p.Phe395Tyr)
n.2735T>A
13g.51950332A>CCA388016294ATP7Bc.*348T>G (n.*348T>G)
c.*1259T>G (n.*1259T>G)
c.2029T>G (p.Phe677Val)
c.2515T>G (p.Phe839Val)
c.2182T>G (p.Phe728Val)
c.2263T>G (p.Phe755Val)
c.2281T>G (p.Phe761Val)
c.1585T>G (p.Phe529Val)
c.1286-171T>G (n.1286-171T>G)
c.476T>G
n.3313T>G
n.1860T>G
c.2371T>G (p.Phe791Val)
n.212-3854T>G
c.2419T>G (p.Phe807Val)
c.2479T>G (p.Phe827Val)
c.331T>G (p.Phe111Val)
c.2101T>G (p.Phe701Val)
c.1183T>G (p.Phe395Val)
n.2734T>G
13g.51950332A>GCA388016283ATP7Bc.*348T>C (n.*348T>C)
c.*1259T>C (n.*1259T>C)
c.2029T>C (p.Phe677Leu)
c.2515T>C (p.Phe839Leu)
c.2182T>C (p.Phe728Leu)
c.2263T>C (p.Phe755Leu)
c.2281T>C (p.Phe761Leu)
c.1585T>C (p.Phe529Leu)
c.1286-171T>C (n.1286-171T>C)
c.476T>C
n.3313T>C
n.1860T>C
c.2371T>C (p.Phe791Leu)
n.212-3854T>C
c.2419T>C (p.Phe807Leu)
c.2479T>C (p.Phe827Leu)
c.331T>C (p.Phe111Leu)
c.2101T>C (p.Phe701Leu)
c.1183T>C (p.Phe395Leu)
n.2734T>C
13g.51950332A>TCA388016287ATP7Bc.*348T>A (n.*348T>A)
c.*1259T>A (n.*1259T>A)
c.2029T>A (p.Phe677Ile)
c.2515T>A (p.Phe839Ile)
c.2182T>A (p.Phe728Ile)
c.2263T>A (p.Phe755Ile)
c.2281T>A (p.Phe761Ile)
c.1585T>A (p.Phe529Ile)
c.1286-171T>A (n.1286-171T>A)
c.476T>A
n.3313T>A
n.1860T>A
c.2371T>A (p.Phe791Ile)
n.212-3854T>A
c.2419T>A (p.Phe807Ile)
c.2479T>A (p.Phe827Ile)
c.331T>A (p.Phe111Ile)
c.2101T>A (p.Phe701Ile)
c.1183T>A (p.Phe395Ile)
n.2734T>A
13g.51950333C>ACA388016297ATP7Bc.*347G>T (n.*347G>T)
c.*1258G>T (n.*1258G>T)
c.2028G>T (p.Lys676Asn)
c.2514G>T (p.Lys838Asn)
c.2181G>T (p.Lys727Asn)
c.2262G>T (p.Lys754Asn)
c.2280G>T (p.Lys760Asn)
c.1584G>T (p.Lys528Asn)
c.1286-172G>T (n.1286-172G>T)
c.475G>T
n.3312G>T
n.1859G>T
c.2370G>T (p.Lys790Asn)
n.212-3855G>T
c.2418G>T (p.Lys806Asn)
c.2478G>T (p.Lys826Asn)
c.330G>T (p.Lys110Asn)
c.2100G>T (p.Lys700Asn)
c.1182G>T (p.Lys394Asn)
n.2733G>T
13g.51950333C>GCA388016311ATP7Bc.*347G>C (n.*347G>C)
c.*1258G>C (n.*1258G>C)
c.2028G>C (p.Lys676Asn)
c.2514G>C (p.Lys838Asn)
c.2181G>C (p.Lys727Asn)
c.2262G>C (p.Lys754Asn)
c.2280G>C (p.Lys760Asn)
c.1584G>C (p.Lys528Asn)
c.1286-172G>C (n.1286-172G>C)
c.475G>C
n.3312G>C
n.1859G>C
c.2370G>C (p.Lys790Asn)
n.212-3855G>C
c.2418G>C (p.Lys806Asn)
c.2478G>C (p.Lys826Asn)
c.330G>C (p.Lys110Asn)
c.2100G>C (p.Lys700Asn)
c.1182G>C (p.Lys394Asn)
n.2733G>C
13g.51950333C>TCA483895764ATP7Bc.*347G>A (n.*347G>A)
c.*1258G>A (n.*1258G>A)
c.2028G>A (p.Lys676=)
c.2514G>A (p.Lys838=)
c.2181G>A (p.Lys727=)
c.2262G>A (p.Lys754=)
c.2280G>A (p.Lys760=)
c.1584G>A (p.Lys528=)
c.1286-172G>A (n.1286-172G>A)
c.475G>A
n.3312G>A
n.1859G>A
c.2370G>A (p.Lys790=)
n.212-3855G>A
c.2418G>A (p.Lys806=)
c.2478G>A (p.Lys826=)
c.330G>A (p.Lys110=)
c.2100G>A (p.Lys700=)
c.1182G>A (p.Lys394=)
n.2733G>A
13g.51950333_51950334delinsCTCA2091542371ATP7Bc.*346_*347delinsAG (n.*346_*347delinsAG)
c.*1257_*1258delinsAG (n.*1257_*1258delinsAG)
c.2027_2028delinsAG (p.Lys676=)
c.2513_2514delinsAG (p.Lys838=)
c.2180_2181delinsAG (p.Lys727=)
c.2261_2262delinsAG (p.Lys754=)
c.2279_2280delinsAG (p.Lys760=)
c.1583_1584delinsAG (p.Lys528=)
c.1286-173_1286-172delinsAG (n.1286-173_1286-172delinsAG)
c.474_475delinsAG
n.3311_3312delinsAG
n.1858_1859delinsAG
c.2369_2370delinsAG (p.Lys790=)
n.212-3856_212-3855delinsAG
c.2417_2418delinsAG (p.Lys806=)
c.2477_2478delinsAG (p.Lys826=)
c.329_330delinsAG (p.Lys110=)
c.2099_2100delinsAG (p.Lys700=)
c.1181_1182delinsAG (p.Lys394=)
n.2732_2733delinsAG
13g.51950334T>ACA388016323ATP7Bc.*346A>T (n.*346A>T)
c.*1257A>T (n.*1257A>T)
c.2027A>T (p.Lys676Met)
c.2513A>T (p.Lys838Met)
c.2180A>T (p.Lys727Met)
c.2261A>T (p.Lys754Met)
c.2279A>T (p.Lys760Met)
c.1583A>T (p.Lys528Met)
c.1286-173A>T (n.1286-173A>T)
c.474A>T
n.3311A>T
n.1858A>T
c.2369A>T (p.Lys790Met)
n.212-3856A>T
c.2417A>T (p.Lys806Met)
c.2477A>T (p.Lys826Met)
c.329A>T (p.Lys110Met)
c.2099A>T (p.Lys700Met)
c.1181A>T (p.Lys394Met)
n.2732A>T
13g.51950334T>CCA6988984ATP7Bc.*346A>G (n.*346A>G)
c.*1257A>G (n.*1257A>G)
c.2027A>G (p.Lys676Arg)
c.2513A>G (p.Lys838Arg)
c.2180A>G (p.Lys727Arg)
c.2261A>G (p.Lys754Arg)
c.2279A>G (p.Lys760Arg)
c.1583A>G (p.Lys528Arg)
c.1286-173A>G (n.1286-173A>G)
c.474A>G
n.3311A>G
n.1858A>G
c.2369A>G (p.Lys790Arg)
n.212-3856A>G
c.2417A>G (p.Lys806Arg)
c.2477A>G (p.Lys826Arg)
c.329A>G (p.Lys110Arg)
c.2099A>G (p.Lys700Arg)
c.1181A>G (p.Lys394Arg)
n.2732A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950334T>GCA388016328ATP7Bc.*346A>C (n.*346A>C)
c.*1257A>C (n.*1257A>C)
c.2027A>C (p.Lys676Thr)
c.2513A>C (p.Lys838Thr)
c.2180A>C (p.Lys727Thr)
c.2261A>C (p.Lys754Thr)
c.2279A>C (p.Lys760Thr)
c.1583A>C (p.Lys528Thr)
c.1286-173A>C (n.1286-173A>C)
c.474A>C
n.3311A>C
n.1858A>C
c.2369A>C (p.Lys790Thr)
n.212-3856A>C
c.2417A>C (p.Lys806Thr)
c.2477A>C (p.Lys826Thr)
c.329A>C (p.Lys110Thr)
c.2099A>C (p.Lys700Thr)
c.1181A>C (p.Lys394Thr)
n.2732A>C
13g.51950334T=CA2091542379ATP7Bc.*346A= (n.*346A=)
c.*1257A= (n.*1257A=)
c.2027A= (p.Lys676=)
c.2513A= (p.Lys838=)
c.2180A= (p.Lys727=)
c.2261A= (p.Lys754=)
c.2279A= (p.Lys760=)
c.1583A= (p.Lys528=)
c.1286-173A= (n.1286-173A=)
c.474A=
n.3311A=
n.1858A=
c.2369A= (p.Lys790=)
n.212-3856A=
c.2417A= (p.Lys806=)
c.2477A= (p.Lys826=)
c.329A= (p.Lys110=)
c.2099A= (p.Lys700=)
c.1181A= (p.Lys394=)
n.2732A=
13g.51950336delCA273896ATP7Bc.*346del (n.*346del)
c.*1257del (n.*1257del)
c.2027del (p.Lys676SerfsTer?)
c.2513del (p.Lys838SerfsTer?)
c.2180del (p.Lys727SerfsTer?)
c.2261del (p.Lys754SerfsTer?)
c.2279del (p.Lys760SerfsTer?)
c.1583del (p.Lys528SerfsTer?)
c.1286-173del (n.1286-173del)
c.474del
n.3311del
n.1858del
c.2369del (p.Lys790SerfsTer?)
n.212-3856del
c.2417del (p.Lys806SerfsTer?)
c.2477del (p.Lys826SerfsTer?)
c.329del (p.Lys110SerfsTer?)
c.2099del (p.Lys700SerfsTer?)
c.1181del (p.Lys394SerfsTer?)
n.2732del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950335_51950336delCA2580087745ATP7Bc.*345_*346del (n.*345_*346del)
c.*1256_*1257del (n.*1256_*1257del)
c.2026_2027del (p.Lys676ValfsTer15)
c.2512_2513del (p.Lys838ValfsTer15)
c.2179_2180del (p.Lys727ValfsTer15)
c.2260_2261del (p.Lys754ValfsTer15)
c.2278_2279del (p.Lys760ValfsTer15)
c.1582_1583del (p.Lys528ValfsTer15)
c.1286-174_1286-173del (n.1286-174_1286-173del)
c.473_474del
n.3310_3311del
n.1857_1858del
c.2368_2369del (p.Lys790ValfsTer15)
n.212-3857_212-3856del
c.2416_2417del (p.Lys806ValfsTer15)
c.2476_2477del (p.Lys826ValfsTer15)
c.328_329del (p.Lys110ValfsTer15)
c.2098_2099del (p.Lys700ValfsTer15)
c.1180_1181del (p.Lys394ValfsTer15)
n.2731_2732del
 ClinVar
13g.51950335T>ACA388016336ATP7Bc.*345A>T (n.*345A>T)
c.*1256A>T (n.*1256A>T)
c.2026A>T (p.Lys676Ter)
c.2512A>T (p.Lys838Ter)
c.2179A>T (p.Lys727Ter)
c.2260A>T (p.Lys754Ter)
c.2278A>T (p.Lys760Ter)
c.1582A>T (p.Lys528Ter)
c.1286-174A>T (n.1286-174A>T)
c.473A>T
n.3310A>T
n.1857A>T
c.2368A>T (p.Lys790Ter)
n.212-3857A>T
c.2416A>T (p.Lys806Ter)
c.2476A>T (p.Lys826Ter)
c.328A>T (p.Lys110Ter)
c.2098A>T (p.Lys700Ter)
c.1180A>T (p.Lys394Ter)
n.2731A>T
13g.51950335T>CCA6988985ATP7Bc.*345A>G (n.*345A>G)
c.*1256A>G (n.*1256A>G)
c.2026A>G (p.Lys676Glu)
c.2512A>G (p.Lys838Glu)
c.2179A>G (p.Lys727Glu)
c.2260A>G (p.Lys754Glu)
c.2278A>G (p.Lys760Glu)
c.1582A>G (p.Lys528Glu)
c.1286-174A>G (n.1286-174A>G)
c.473A>G
n.3310A>G
n.1857A>G
c.2368A>G (p.Lys790Glu)
n.212-3857A>G
c.2416A>G (p.Lys806Glu)
c.2476A>G (p.Lys826Glu)
c.328A>G (p.Lys110Glu)
c.2098A>G (p.Lys700Glu)
c.1180A>G (p.Lys394Glu)
n.2731A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950335T>GCA388016341ATP7Bc.*345A>C (n.*345A>C)
c.*1256A>C (n.*1256A>C)
c.2026A>C (p.Lys676Gln)
c.2512A>C (p.Lys838Gln)
c.2179A>C (p.Lys727Gln)
c.2260A>C (p.Lys754Gln)
c.2278A>C (p.Lys760Gln)
c.1582A>C (p.Lys528Gln)
c.1286-174A>C (n.1286-174A>C)
c.473A>C
n.3310A>C
n.1857A>C
c.2368A>C (p.Lys790Gln)
n.212-3857A>C
c.2416A>C (p.Lys806Gln)
c.2476A>C (p.Lys826Gln)
c.328A>C (p.Lys110Gln)
c.2098A>C (p.Lys700Gln)
c.1180A>C (p.Lys394Gln)
n.2731A>C
13g.51950335T=CA2091542384ATP7Bc.*345A= (n.*345A=)
c.*1256A= (n.*1256A=)
c.2026A= (p.Lys676=)
c.2512A= (p.Lys838=)
c.2179A= (p.Lys727=)
c.2260A= (p.Lys754=)
c.2278A= (p.Lys760=)
c.1582A= (p.Lys528=)
c.1286-174A= (n.1286-174A=)
c.473A=
n.3310A=
n.1857A=
c.2368A= (p.Lys790=)
n.212-3857A=
c.2416A= (p.Lys806=)
c.2476A= (p.Lys826=)
c.328A= (p.Lys110=)
c.2098A= (p.Lys700=)
c.1180A= (p.Lys394=)
n.2731A=
13g.51950336T>ACA483895765ATP7Bc.*344A>T (n.*344A>T)
c.*1255A>T (n.*1255A>T)
c.2025A>T (p.Gly675=)
c.2511A>T (p.Gly837=)
c.2178A>T (p.Gly726=)
c.2259A>T (p.Gly753=)
c.2277A>T (p.Gly759=)
c.1581A>T (p.Gly527=)
c.1286-175A>T (n.1286-175A>T)
c.472A>T
n.3309A>T
n.1856A>T
c.2367A>T (p.Gly789=)
n.212-3858A>T
c.2415A>T (p.Gly805=)
c.2475A>T (p.Gly825=)
c.327A>T (p.Gly109=)
c.2097A>T (p.Gly699=)
c.1179A>T (p.Gly393=)
n.2730A>T
13g.51950336T>CCA6988986ATP7Bc.*344A>G (n.*344A>G)
c.*1255A>G (n.*1255A>G)
c.2025A>G (p.Gly675=)
c.2511A>G (p.Gly837=)
c.2178A>G (p.Gly726=)
c.2259A>G (p.Gly753=)
c.2277A>G (p.Gly759=)
c.1581A>G (p.Gly527=)
c.1286-175A>G (n.1286-175A>G)
c.472A>G
n.3309A>G
n.1856A>G
c.2367A>G (p.Gly789=)
n.212-3858A>G
c.2415A>G (p.Gly805=)
c.2475A>G (p.Gly825=)
c.327A>G (p.Gly109=)
c.2097A>G (p.Gly699=)
c.1179A>G (p.Gly393=)
n.2730A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51950336T>GCA483895766ATP7Bc.*344A>C (n.*344A>C)
c.*1255A>C (n.*1255A>C)
c.2025A>C (p.Gly675=)
c.2511A>C (p.Gly837=)
c.2178A>C (p.Gly726=)
c.2259A>C (p.Gly753=)
c.2277A>C (p.Gly759=)
c.1581A>C (p.Gly527=)
c.1286-175A>C (n.1286-175A>C)
c.472A>C
n.3309A>C
n.1856A>C
c.2367A>C (p.Gly789=)
n.212-3858A>C
c.2415A>C (p.Gly805=)
c.2475A>C (p.Gly825=)
c.327A>C (p.Gly109=)
c.2097A>C (p.Gly699=)
c.1179A>C (p.Gly393=)
n.2730A>C
13g.51950336T=CA2091542389ATP7Bc.*344A= (n.*344A=)
c.*1255A= (n.*1255A=)
c.2025A= (p.Gly675=)
c.2511A= (p.Gly837=)
c.2178A= (p.Gly726=)
c.2259A= (p.Gly753=)
c.2277A= (p.Gly759=)
c.1581A= (p.Gly527=)
c.1286-175A= (n.1286-175A=)
c.472A=
n.3309A=
n.1856A=
c.2367A= (p.Gly789=)
n.212-3858A=
c.2415A= (p.Gly805=)
c.2475A= (p.Gly825=)
c.327A= (p.Gly109=)
c.2097A= (p.Gly699=)
c.1179A= (p.Gly393=)
n.2730A=
13g.51950337C>ACA388016351ATP7Bc.*343G>T (n.*343G>T)
c.*1254G>T (n.*1254G>T)
c.2024G>T (p.Gly675Val)
c.2510G>T (p.Gly837Val)
c.2177G>T (p.Gly726Val)
c.2258G>T (p.Gly753Val)
c.2276G>T (p.Gly759Val)
c.1580G>T (p.Gly527Val)
c.1286-176G>T (n.1286-176G>T)
c.471G>T
n.3308G>T
n.1855G>T
c.2366G>T (p.Gly789Val)
n.212-3859G>T
c.2414G>T (p.Gly805Val)
c.2474G>T (p.Gly825Val)
c.326G>T (p.Gly109Val)
c.2096G>T (p.Gly699Val)
c.1178G>T (p.Gly393Val)
n.2729G>T
13g.51950337C>GCA388016352ATP7Bc.*343G>C (n.*343G>C)
c.*1254G>C (n.*1254G>C)
c.2024G>C (p.Gly675Ala)
c.2510G>C (p.Gly837Ala)
c.2177G>C (p.Gly726Ala)
c.2258G>C (p.Gly753Ala)
c.2276G>C (p.Gly759Ala)
c.1580G>C (p.Gly527Ala)
c.1286-176G>C (n.1286-176G>C)
c.471G>C
n.3308G>C
n.1855G>C
c.2366G>C (p.Gly789Ala)
n.212-3859G>C
c.2414G>C (p.Gly805Ala)
c.2474G>C (p.Gly825Ala)
c.326G>C (p.Gly109Ala)
c.2096G>C (p.Gly699Ala)
c.1178G>C (p.Gly393Ala)
n.2729G>C
13g.51950337C>TCA388016354ATP7Bc.*343G>A (n.*343G>A)
c.*1254G>A (n.*1254G>A)
c.2024G>A (p.Gly675Glu)
c.2510G>A (p.Gly837Glu)
c.2177G>A (p.Gly726Glu)
c.2258G>A (p.Gly753Glu)
c.2276G>A (p.Gly759Glu)
c.1580G>A (p.Gly527Glu)
c.1286-176G>A (n.1286-176G>A)
c.471G>A
n.3308G>A
n.1855G>A
c.2366G>A (p.Gly789Glu)
n.212-3859G>A
c.2414G>A (p.Gly805Glu)
c.2474G>A (p.Gly825Glu)
c.326G>A (p.Gly109Glu)
c.2096G>A (p.Gly699Glu)
c.1178G>A (p.Gly393Glu)
n.2729G>A
13g.51950341dupCA250058564ATP7Bc.*343dup (n.*343dup)
c.*1254dup (n.*1254dup)
c.2024dup (p.Phe677ValfsTer15)
c.2510dup (p.Phe839ValfsTer15)
c.2177dup (p.Phe728ValfsTer15)
c.2258dup (p.Phe755ValfsTer15)
c.2276dup (p.Phe761ValfsTer15)
c.1580dup (p.Phe529ValfsTer15)
c.1286-176dup (n.1286-176dup)
c.471dup
n.3308dup
n.1855dup
c.2366dup (p.Phe791ValfsTer15)
n.212-3859dup
c.2414dup (p.Phe807ValfsTer15)
c.2474dup (p.Phe827ValfsTer15)
c.326dup (p.Phe111ValfsTer15)
c.2096dup (p.Phe701ValfsTer15)
c.1178dup (p.Phe395ValfsTer15)
n.2729dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51950341delCA2499222478ATP7Bc.*343del (n.*343del)
c.*1254del (n.*1254del)
c.2024del (p.Gly675GlufsTer?)
c.2510del (p.Gly837GlufsTer?)
c.2177del (p.Gly726GlufsTer?)
c.2258del (p.Gly753GlufsTer?)
c.2276del (p.Gly759GlufsTer?)
c.1580del (p.Gly527GlufsTer?)
c.1286-176del (n.1286-176del)
c.471del
n.3308del
n.1855del
c.2366del (p.Gly789GlufsTer?)
n.212-3859del
c.2414del (p.Gly805GlufsTer?)
c.2474del (p.Gly825GlufsTer?)
c.326del (p.Gly109GlufsTer?)
c.2096del (p.Gly699GlufsTer?)
c.1178del (p.Gly393GlufsTer?)
n.2729del
 ClinVar dbSNP
13g.51950338_51950372delCA2739277669ATP7Bc.*309_*343del (n.*309_*343del)
c.*1220_*1254del (n.*1220_*1254del)
c.1990_2024del (p.Gln664LysfsTer16)
c.2476_2510del (p.Gln826LysfsTer16)
c.2143_2177del (p.Gln715LysfsTer16)
c.2224_2258del (p.Gln742LysfsTer16)
c.2242_2276del (p.Gln748LysfsTer16)
c.1546_1580del (p.Gln516LysfsTer16)
c.1286-210_1286-176del (n.1286-210_1286-176del)
c.437_471del
n.3274_3308del
n.1821_1855del
c.2332_2366del (p.Gln778LysfsTer16)
n.212-3893_212-3859del
c.2380_2414del (p.Gln794LysfsTer16)
c.2440_2474del (p.Gln814LysfsTer16)
c.292_326del (p.Gln98LysfsTer16)
c.2062_2096del (p.Gln688LysfsTer16)
c.1144_1178del (p.Gln382LysfsTer16)
n.2695_2729del
 ClinVar
13g.51950338C>ACA250058566ATP7Bc.*342G>T (n.*342G>T)
c.*1253G>T (n.*1253G>T)
c.2023G>T (p.Gly675Ter)
c.2509G>T (p.Gly837Ter)
c.2176G>T (p.Gly726Ter)
c.2257G>T (p.Gly753Ter)
c.2275G>T (p.Gly759Ter)
c.1579G>T (p.Gly527Ter)
c.1286-177G>T (n.1286-177G>T)
c.470G>T
n.3307G>T
n.1854G>T
c.2365G>T (p.Gly789Ter)
n.212-3860G>T
c.2413G>T (p.Gly805Ter)
c.2473G>T (p.Gly825Ter)
c.325G>T (p.Gly109Ter)
c.2095G>T (p.Gly699Ter)
c.1177G>T (p.Gly393Ter)
n.2728G>T
 dbSNP
13g.51950338C=CA2091542397ATP7Bc.*342G= (n.*342G=)
c.*1253G= (n.*1253G=)
c.2023G= (p.Gly675=)
c.2509G= (p.Gly837=)
c.2176G= (p.Gly726=)
c.2257G= (p.Gly753=)
c.2275G= (p.Gly759=)
c.1579G= (p.Gly527=)
c.1286-177G= (n.1286-177G=)
c.470G=
n.3307G=
n.1854G=
c.2365G= (p.Gly789=)
n.212-3860G=
c.2413G= (p.Gly805=)
c.2473G= (p.Gly825=)
c.325G= (p.Gly109=)
c.2095G= (p.Gly699=)
c.1177G= (p.Gly393=)
n.2728G=
13g.51950338C>GCA388016358ATP7Bc.*342G>C (n.*342G>C)
c.*1253G>C (n.*1253G>C)
c.2023G>C (p.Gly675Arg)
c.2509G>C (p.Gly837Arg)
c.2176G>C (p.Gly726Arg)
c.2257G>C (p.Gly753Arg)
c.2275G>C (p.Gly759Arg)
c.1579G>C (p.Gly527Arg)
c.1286-177G>C (n.1286-177G>C)
c.470G>C
n.3307G>C
n.1854G>C
c.2365G>C (p.Gly789Arg)
n.212-3860G>C
c.2413G>C (p.Gly805Arg)
c.2473G>C (p.Gly825Arg)
c.325G>C (p.Gly109Arg)
c.2095G>C (p.Gly699Arg)
c.1177G>C (p.Gly393Arg)
n.2728G>C
13g.51950338C>TCA388016359ATP7Bc.*342G>A (n.*342G>A)
c.*1253G>A (n.*1253G>A)
c.2023G>A (p.Gly675Arg)
c.2509G>A (p.Gly837Arg)
c.2176G>A (p.Gly726Arg)
c.2257G>A (p.Gly753Arg)
c.2275G>A (p.Gly759Arg)
c.1579G>A (p.Gly527Arg)
c.1286-177G>A (n.1286-177G>A)
c.470G>A
n.3307G>A
n.1854G>A
c.2365G>A (p.Gly789Arg)
n.212-3860G>A
c.2413G>A (p.Gly805Arg)
c.2473G>A (p.Gly825Arg)
c.325G>A (p.Gly109Arg)
c.2095G>A (p.Gly699Arg)
c.1177G>A (p.Gly393Arg)
n.2728G>A
 gnomAD v4 COSMIC
13g.51950339C>ACA483895767ATP7Bc.*341G>T (n.*341G>T)
c.*1252G>T (n.*1252G>T)
c.2022G>T (p.Gly674=)
c.2508G>T (p.Gly836=)
c.2175G>T (p.Gly725=)
c.2256G>T (p.Gly752=)
c.2274G>T (p.Gly758=)
c.1578G>T (p.Gly526=)
c.1286-178G>T (n.1286-178G>T)
c.469G>T
n.3306G>T
n.1853G>T
c.2364G>T (p.Gly788=)
n.212-3861G>T
c.2412G>T (p.Gly804=)
c.2472G>T (p.Gly824=)
c.324G>T (p.Gly108=)
c.2094G>T (p.Gly698=)
c.1176G>T (p.Gly392=)
n.2727G>T
13g.51950339C>GCA483895768ATP7Bc.*341G>C (n.*341G>C)
c.*1252G>C (n.*1252G>C)
c.2022G>C (p.Gly674=)
c.2508G>C (p.Gly836=)
c.2175G>C (p.Gly725=)
c.2256G>C (p.Gly752=)
c.2274G>C (p.Gly758=)
c.1578G>C (p.Gly526=)
c.1286-178G>C (n.1286-178G>C)
c.469G>C
n.3306G>C
n.1853G>C
c.2364G>C (p.Gly788=)
n.212-3861G>C
c.2412G>C (p.Gly804=)
c.2472G>C (p.Gly824=)
c.324G>C (p.Gly108=)
c.2094G>C (p.Gly698=)
c.1176G>C (p.Gly392=)
n.2727G>C
13g.51950339C>TCA483895769ATP7Bc.*341G>A (n.*341G>A)
c.*1252G>A (n.*1252G>A)
c.2022G>A (p.Gly674=)
c.2508G>A (p.Gly836=)
c.2175G>A (p.Gly725=)
c.2256G>A (p.Gly752=)
c.2274G>A (p.Gly758=)
c.1578G>A (p.Gly526=)
c.1286-178G>A (n.1286-178G>A)
c.469G>A
n.3306G>A
n.1853G>A
c.2364G>A (p.Gly788=)
n.212-3861G>A
c.2412G>A (p.Gly804=)
c.2472G>A (p.Gly824=)
c.324G>A (p.Gly108=)
c.2094G>A (p.Gly698=)
c.1176G>A (p.Gly392=)
n.2727G>A
13g.51950340C>ACA388016363ATP7Bc.*340G>T (n.*340G>T)
c.*1251G>T (n.*1251G>T)
c.2021G>T (p.Gly674Val)
c.2507G>T (p.Gly836Val)
c.2174G>T (p.Gly725Val)
c.2255G>T (p.Gly752Val)
c.2273G>T (p.Gly758Val)
c.1577G>T (p.Gly526Val)
c.1286-179G>T (n.1286-179G>T)
c.468G>T
n.3305G>T
n.1852G>T
c.2363G>T (p.Gly788Val)
n.212-3862G>T
c.2411G>T (p.Gly804Val)
c.2471G>T (p.Gly824Val)
c.323G>T (p.Gly108Val)
c.2093G>T (p.Gly698Val)
c.1175G>T (p.Gly392Val)
n.2726G>T
13g.51950340C=CA2091542403ATP7Bc.*340G= (n.*340G=)
c.*1251G= (n.*1251G=)
c.2021G= (p.Gly674=)
c.2507G= (p.Gly836=)
c.2174G= (p.Gly725=)
c.2255G= (p.Gly752=)
c.2273G= (p.Gly758=)
c.1577G= (p.Gly526=)
c.1286-179G= (n.1286-179G=)
c.468G=
n.3305G=
n.1852G=
c.2363G= (p.Gly788=)
n.212-3862G=
c.2411G= (p.Gly804=)
c.2471G= (p.Gly824=)
c.323G= (p.Gly108=)
c.2093G= (p.Gly698=)
c.1175G= (p.Gly392=)
n.2726G=
13g.51950340C>GCA388016369ATP7Bc.*340G>C (n.*340G>C)
c.*1251G>C (n.*1251G>C)
c.2021G>C (p.Gly674Ala)
c.2507G>C (p.Gly836Ala)
c.2174G>C (p.Gly725Ala)
c.2255G>C (p.Gly752Ala)
c.2273G>C (p.Gly758Ala)
c.1577G>C (p.Gly526Ala)
c.1286-179G>C (n.1286-179G>C)
c.468G>C
n.3305G>C
n.1852G>C
c.2363G>C (p.Gly788Ala)
n.212-3862G>C
c.2411G>C (p.Gly804Ala)
c.2471G>C (p.Gly824Ala)
c.323G>C (p.Gly108Ala)
c.2093G>C (p.Gly698Ala)
c.1175G>C (p.Gly392Ala)
n.2726G>C
13g.51950340C>TCA6988987ATP7Bc.*340G>A (n.*340G>A)
c.*1251G>A (n.*1251G>A)
c.2021G>A (p.Gly674Glu)
c.2507G>A (p.Gly836Glu)
c.2174G>A (p.Gly725Glu)
c.2255G>A (p.Gly752Glu)
c.2273G>A (p.Gly758Glu)
c.1577G>A (p.Gly526Glu)
c.1286-179G>A (n.1286-179G>A)
c.468G>A
n.3305G>A
n.1852G>A
c.2363G>A (p.Gly788Glu)
n.212-3862G>A
c.2411G>A (p.Gly804Glu)
c.2471G>A (p.Gly824Glu)
c.323G>A (p.Gly108Glu)
c.2093G>A (p.Gly698Glu)
c.1175G>A (p.Gly392Glu)
n.2726G>A
 ClinVar dbSNP ExAC gnomAD v2
13g.51950341C>ACA388016389ATP7Bc.*339G>T (n.*339G>T)
c.*1250G>T (n.*1250G>T)
c.2020G>T (p.Gly674Trp)
c.2506G>T (p.Gly836Trp)
c.2173G>T (p.Gly725Trp)
c.2254G>T (p.Gly752Trp)
c.2272G>T (p.Gly758Trp)
c.1576G>T (p.Gly526Trp)
c.1286-180G>T (n.1286-180G>T)
c.467G>T
n.3304G>T
n.1851G>T
c.2362G>T (p.Gly788Trp)
n.212-3863G>T
c.2410G>T (p.Gly804Trp)
c.2470G>T (p.Gly824Trp)
c.322G>T (p.Gly108Trp)
c.2092G>T (p.Gly698Trp)
c.1174G>T (p.Gly392Trp)
n.2725G>T
13g.51950341C>GCA388016406ATP7Bc.*339G>C (n.*339G>C)
c.*1250G>C (n.*1250G>C)
c.2020G>C (p.Gly674Arg)
c.2506G>C (p.Gly836Arg)
c.2173G>C (p.Gly725Arg)
c.2254G>C (p.Gly752Arg)
c.2272G>C (p.Gly758Arg)
c.1576G>C (p.Gly526Arg)
c.1286-180G>C (n.1286-180G>C)
c.467G>C
n.3304G>C
n.1851G>C
c.2362G>C (p.Gly788Arg)
n.212-3863G>C
c.2410G>C (p.Gly804Arg)
c.2470G>C (p.Gly824Arg)
c.322G>C (p.Gly108Arg)
c.2092G>C (p.Gly698Arg)
c.1174G>C (p.Gly392Arg)
n.2725G>C
13g.51950341C>TCA388016410ATP7Bc.*339G>A (n.*339G>A)
c.*1250G>A (n.*1250G>A)
c.2020G>A (p.Gly674Arg)
c.2506G>A (p.Gly836Arg)
c.2173G>A (p.Gly725Arg)
c.2254G>A (p.Gly752Arg)
c.2272G>A (p.Gly758Arg)
c.1576G>A (p.Gly526Arg)
c.1286-180G>A (n.1286-180G>A)
c.467G>A
n.3304G>A
n.1851G>A
c.2362G>A (p.Gly788Arg)
n.212-3863G>A
c.2410G>A (p.Gly804Arg)
c.2470G>A (p.Gly824Arg)
c.322G>A (p.Gly108Arg)
c.2092G>A (p.Gly698Arg)
c.1174G>A (p.Gly392Arg)
n.2725G>A
 ClinVar dbSNP
13g.51950342A>CCA483895770ATP7Bc.*338T>G (n.*338T>G)
c.*1249T>G (n.*1249T>G)
c.2019T>G (p.Pro673=)
c.2505T>G (p.Pro835=)
c.2172T>G (p.Pro724=)
c.2253T>G (p.Pro751=)
c.2271T>G (p.Pro757=)
c.1575T>G (p.Pro525=)
c.1286-181T>G (n.1286-181T>G)
c.466T>G
n.3303T>G
n.1850T>G
c.2361T>G (p.Pro787=)
n.212-3864T>G
c.2409T>G (p.Pro803=)
c.2469T>G (p.Pro823=)
c.321T>G (p.Pro107=)
c.2091T>G (p.Pro697=)
c.1173T>G (p.Pro391=)
n.2724T>G
13g.51950342A>GCA483895771ATP7Bc.*338T>C (n.*338T>C)
c.*1249T>C (n.*1249T>C)
c.2019T>C (p.Pro673=)
c.2505T>C (p.Pro835=)
c.2172T>C (p.Pro724=)
c.2253T>C (p.Pro751=)
c.2271T>C (p.Pro757=)
c.1575T>C (p.Pro525=)
c.1286-181T>C (n.1286-181T>C)
c.466T>C
n.3303T>C
n.1850T>C
c.2361T>C (p.Pro787=)
n.212-3864T>C
c.2409T>C (p.Pro803=)
c.2469T>C (p.Pro823=)
c.321T>C (p.Pro107=)
c.2091T>C (p.Pro697=)
c.1173T>C (p.Pro391=)
n.2724T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51950342A>TCA483895772ATP7Bc.*338T>A (n.*338T>A)
c.*1249T>A (n.*1249T>A)
c.2019T>A (p.Pro673=)
c.2505T>A (p.Pro835=)
c.2172T>A (p.Pro724=)
c.2253T>A (p.Pro751=)
c.2271T>A (p.Pro757=)
c.1575T>A (p.Pro525=)
c.1286-181T>A (n.1286-181T>A)
c.466T>A
n.3303T>A
n.1850T>A
c.2361T>A (p.Pro787=)
n.212-3864T>A
c.2409T>A (p.Pro803=)
c.2469T>A (p.Pro823=)
c.321T>A (p.Pro107=)
c.2091T>A (p.Pro697=)
c.1173T>A (p.Pro391=)
n.2724T>A
13g.51950343G>ACA388016423ATP7Bc.*337C>T (n.*337C>T)
c.*1248C>T (n.*1248C>T)
c.2018C>T (p.Pro673Leu)
c.2504C>T (p.Pro835Leu)
c.2171C>T (p.Pro724Leu)
c.2252C>T (p.Pro751Leu)
c.2270C>T (p.Pro757Leu)
c.1574C>T (p.Pro525Leu)
c.1286-182C>T (n.1286-182C>T)
c.465C>T
n.3302C>T
n.1849C>T
c.2360C>T (p.Pro787Leu)
n.212-3865C>T
c.2408C>T (p.Pro803Leu)
c.2468C>T (p.Pro823Leu)
c.320C>T (p.Pro107Leu)
c.2090C>T (p.Pro697Leu)
c.1172C>T (p.Pro391Leu)
n.2723C>T
13g.51950343G>CCA388016445ATP7Bc.*337C>G (n.*337C>G)
c.*1248C>G (n.*1248C>G)
c.2018C>G (p.Pro673Arg)
c.2504C>G (p.Pro835Arg)
c.2171C>G (p.Pro724Arg)
c.2252C>G (p.Pro751Arg)
c.2270C>G (p.Pro757Arg)
c.1574C>G (p.Pro525Arg)
c.1286-182C>G (n.1286-182C>G)
c.465C>G
n.3302C>G
n.1849C>G
c.2360C>G (p.Pro787Arg)
n.212-3865C>G
c.2408C>G (p.Pro803Arg)
c.2468C>G (p.Pro823Arg)
c.320C>G (p.Pro107Arg)
c.2090C>G (p.Pro697Arg)
c.1172C>G (p.Pro391Arg)
n.2723C>G
 gnomAD v4
13g.51950343G>TCA388016427ATP7Bc.*337C>A (n.*337C>A)
c.*1248C>A (n.*1248C>A)
c.2018C>A (p.Pro673His)
c.2504C>A (p.Pro835His)
c.2171C>A (p.Pro724His)
c.2252C>A (p.Pro751His)
c.2270C>A (p.Pro757His)
c.1574C>A (p.Pro525His)
c.1286-182C>A (n.1286-182C>A)
c.465C>A
n.3302C>A
n.1849C>A
c.2360C>A (p.Pro787His)
n.212-3865C>A
c.2408C>A (p.Pro803His)
c.2468C>A (p.Pro823His)
c.320C>A (p.Pro107His)
c.2090C>A (p.Pro697His)
c.1172C>A (p.Pro391His)
n.2723C>A
13g.51950344G>ACA388016448ATP7Bc.*336C>T (n.*336C>T)
c.*1247C>T (n.*1247C>T)
c.2017C>T (p.Pro673Ser)
c.2503C>T (p.Pro835Ser)
c.2170C>T (p.Pro724Ser)
c.2251C>T (p.Pro751Ser)
c.2269C>T (p.Pro757Ser)
c.1573C>T (p.Pro525Ser)
c.1286-183C>T (n.1286-183C>T)
c.464C>T
n.3301C>T
n.1848C>T
c.2359C>T (p.Pro787Ser)
n.212-3866C>T
c.2407C>T (p.Pro803Ser)
c.2467C>T (p.Pro823Ser)
c.319C>T (p.Pro107Ser)
c.2089C>T (p.Pro697Ser)
c.1171C>T (p.Pro391Ser)
n.2722C>T
 COSMIC
13g.51950344G>CCA388016449ATP7Bc.*336C>G (n.*336C>G)
c.*1247C>G (n.*1247C>G)
c.2017C>G (p.Pro673Ala)
c.2503C>G (p.Pro835Ala)
c.2170C>G (p.Pro724Ala)
c.2251C>G (p.Pro751Ala)
c.2269C>G (p.Pro757Ala)
c.1573C>G (p.Pro525Ala)
c.1286-183C>G (n.1286-183C>G)
c.464C>G
n.3301C>G
n.1848C>G
c.2359C>G (p.Pro787Ala)
n.212-3866C>G
c.2407C>G (p.Pro803Ala)
c.2467C>G (p.Pro823Ala)
c.319C>G (p.Pro107Ala)
c.2089C>G (p.Pro697Ala)
c.1171C>G (p.Pro391Ala)
n.2722C>G
13g.51950344G>TCA388016450ATP7Bc.*336C>A (n.*336C>A)
c.*1247C>A (n.*1247C>A)
c.2017C>A (p.Pro673Thr)
c.2503C>A (p.Pro835Thr)
c.2170C>A (p.Pro724Thr)
c.2251C>A (p.Pro751Thr)
c.2269C>A (p.Pro757Thr)
c.1573C>A (p.Pro525Thr)
c.1286-183C>A (n.1286-183C>A)
c.464C>A
n.3301C>A
n.1848C>A
c.2359C>A (p.Pro787Thr)
n.212-3866C>A
c.2407C>A (p.Pro803Thr)
c.2467C>A (p.Pro823Thr)
c.319C>A (p.Pro107Thr)
c.2089C>A (p.Pro697Thr)
c.1171C>A (p.Pro391Thr)
n.2722C>A
13g.51950345G>ACA483895773ATP7Bc.*335C>T (n.*335C>T)
c.*1246C>T (n.*1246C>T)
c.2016C>T (p.Val672=)
c.2502C>T (p.Val834=)
c.2169C>T (p.Val723=)
c.2250C>T (p.Val750=)
c.2268C>T (p.Val756=)
c.1572C>T (p.Val524=)
c.1286-184C>T (n.1286-184C>T)
c.463C>T
n.3300C>T
n.1847C>T
c.2358C>T (p.Val786=)
n.212-3867C>T
c.2406C>T (p.Val802=)
c.2466C>T (p.Val822=)
c.318C>T (p.Val106=)
c.2088C>T (p.Val696=)
c.1170C>T (p.Val390=)
n.2721C>T
13g.51950345G>CCA250058568ATP7Bc.*335C>G (n.*335C>G)
c.*1246C>G (n.*1246C>G)
c.2016C>G (p.Val672=)
c.2502C>G (p.Val834=)
c.2169C>G (p.Val723=)
c.2250C>G (p.Val750=)
c.2268C>G (p.Val756=)
c.1572C>G (p.Val524=)
c.1286-184C>G (n.1286-184C>G)
c.463C>G
n.3300C>G
n.1847C>G
c.2358C>G (p.Val786=)
n.212-3867C>G
c.2406C>G (p.Val802=)
c.2466C>G (p.Val822=)
c.318C>G (p.Val106=)
c.2088C>G (p.Val696=)
c.1170C>G (p.Val390=)
n.2721C>G
 dbSNP
13g.51950345G=CA2091542406ATP7Bc.*335C= (n.*335C=)
c.*1246C= (n.*1246C=)
c.2016C= (p.Val672=)
c.2502C= (p.Val834=)
c.2169C= (p.Val723=)
c.2250C= (p.Val750=)
c.2268C= (p.Val756=)
c.1572C= (p.Val524=)
c.1286-184C= (n.1286-184C=)
c.463C=
n.3300C=
n.1847C=
c.2358C= (p.Val786=)
n.212-3867C=
c.2406C= (p.Val802=)
c.2466C= (p.Val822=)
c.318C= (p.Val106=)
c.2088C= (p.Val696=)
c.1170C= (p.Val390=)
n.2721C=
13g.51950345G>TCA483895774ATP7Bc.*335C>A (n.*335C>A)
c.*1246C>A (n.*1246C>A)
c.2016C>A (p.Val672=)
c.2502C>A (p.Val834=)
c.2169C>A (p.Val723=)
c.2250C>A (p.Val750=)
c.2268C>A (p.Val756=)
c.1572C>A (p.Val524=)
c.1286-184C>A (n.1286-184C>A)
c.463C>A
n.3300C>A
n.1847C>A
c.2358C>A (p.Val786=)
n.212-3867C>A
c.2406C>A (p.Val802=)
c.2466C>A (p.Val822=)
c.318C>A (p.Val106=)
c.2088C>A (p.Val696=)
c.1170C>A (p.Val390=)
n.2721C>A
13g.51950346A>CCA388016456ATP7Bc.*334T>G (n.*334T>G)
c.*1245T>G (n.*1245T>G)
c.2015T>G (p.Val672Gly)
c.2501T>G (p.Val834Gly)
c.2168T>G (p.Val723Gly)
c.2249T>G (p.Val750Gly)
c.2267T>G (p.Val756Gly)
c.1571T>G (p.Val524Gly)
c.1286-185T>G (n.1286-185T>G)
c.462T>G
n.3299T>G
n.1846T>G
c.2357T>G (p.Val786Gly)
n.212-3868T>G
c.2405T>G (p.Val802Gly)
c.2465T>G (p.Val822Gly)
c.317T>G (p.Val106Gly)
c.2087T>G (p.Val696Gly)
c.1169T>G (p.Val390Gly)
n.2720T>G
13g.51950346A>GCA388016458ATP7Bc.*334T>C (n.*334T>C)
c.*1245T>C (n.*1245T>C)
c.2015T>C (p.Val672Ala)
c.2501T>C (p.Val834Ala)
c.2168T>C (p.Val723Ala)
c.2249T>C (p.Val750Ala)
c.2267T>C (p.Val756Ala)
c.1571T>C (p.Val524Ala)
c.1286-185T>C (n.1286-185T>C)
c.462T>C
n.3299T>C
n.1846T>C
c.2357T>C (p.Val786Ala)
n.212-3868T>C
c.2405T>C (p.Val802Ala)
c.2465T>C (p.Val822Ala)
c.317T>C (p.Val106Ala)
c.2087T>C (p.Val696Ala)
c.1169T>C (p.Val390Ala)
n.2720T>C
13g.51950346A>TCA388016477ATP7Bc.*334T>A (n.*334T>A)
c.*1245T>A (n.*1245T>A)
c.2015T>A (p.Val672Asp)
c.2501T>A (p.Val834Asp)
c.2168T>A (p.Val723Asp)
c.2249T>A (p.Val750Asp)
c.2267T>A (p.Val756Asp)
c.1571T>A (p.Val524Asp)
c.1286-185T>A (n.1286-185T>A)
c.462T>A
n.3299T>A
n.1846T>A
c.2357T>A (p.Val786Asp)
n.212-3868T>A
c.2405T>A (p.Val802Asp)
c.2465T>A (p.Val822Asp)
c.317T>A (p.Val106Asp)
c.2087T>A (p.Val696Asp)
c.1169T>A (p.Val390Asp)
n.2720T>A
 ClinVar
13g.51950347C>ACA388016485ATP7Bc.*333G>T (n.*333G>T)
c.*1244G>T (n.*1244G>T)
c.2014G>T (p.Val672Phe)
c.2500G>T (p.Val834Phe)
c.2167G>T (p.Val723Phe)
c.2248G>T (p.Val750Phe)
c.2266G>T (p.Val756Phe)
c.1570G>T (p.Val524Phe)
c.1286-186G>T (n.1286-186G>T)
c.461G>T
n.3298G>T
n.1845G>T
c.2356G>T (p.Val786Phe)
n.212-3869G>T
c.2404G>T (p.Val802Phe)
c.2464G>T (p.Val822Phe)
c.316G>T (p.Val106Phe)
c.2086G>T (p.Val696Phe)
c.1168G>T (p.Val390Phe)
n.2719G>T
13g.51950347C>GCA388016489ATP7Bc.*333G>C (n.*333G>C)
c.*1244G>C (n.*1244G>C)
c.2014G>C (p.Val672Leu)
c.2500G>C (p.Val834Leu)
c.2167G>C (p.Val723Leu)
c.2248G>C (p.Val750Leu)
c.2266G>C (p.Val756Leu)
c.1570G>C (p.Val524Leu)
c.1286-186G>C (n.1286-186G>C)
c.461G>C
n.3298G>C
n.1845G>C
c.2356G>C (p.Val786Leu)
n.212-3869G>C
c.2404G>C (p.Val802Leu)
c.2464G>C (p.Val822Leu)
c.316G>C (p.Val106Leu)
c.2086G>C (p.Val696Leu)
c.1168G>C (p.Val390Leu)
n.2719G>C
13g.51950347C>TCA388016501ATP7Bc.*333G>A (n.*333G>A)
c.*1244G>A (n.*1244G>A)
c.2014G>A (p.Val672Ile)
c.2500G>A (p.Val834Ile)
c.2167G>A (p.Val723Ile)
c.2248G>A (p.Val750Ile)
c.2266G>A (p.Val756Ile)
c.1570G>A (p.Val524Ile)
c.1286-186G>A (n.1286-186G>A)
c.461G>A
n.3298G>A
n.1845G>A
c.2356G>A (p.Val786Ile)
n.212-3869G>A
c.2404G>A (p.Val802Ile)
c.2464G>A (p.Val822Ile)
c.316G>A (p.Val106Ile)
c.2086G>A (p.Val696Ile)
c.1168G>A (p.Val390Ile)
n.2719G>A
13g.51950348C>ACA483895775ATP7Bc.*332G>T (n.*332G>T)
c.*1243G>T (n.*1243G>T)
c.2013G>T (p.Val671=)
c.2499G>T (p.Val833=)
c.2166G>T (p.Val722=)
c.2247G>T (p.Val749=)
c.2265G>T (p.Val755=)
c.1569G>T (p.Val523=)
c.1286-187G>T (n.1286-187G>T)
c.460G>T
n.3297G>T
n.1844G>T
c.2355G>T (p.Val785=)
n.212-3870G>T
c.2403G>T (p.Val801=)
c.2463G>T (p.Val821=)
c.315G>T (p.Val105=)
c.2085G>T (p.Val695=)
c.1167G>T (p.Val389=)
n.2718G>T
13g.51950348C>GCA483895776ATP7Bc.*332G>C (n.*332G>C)
c.*1243G>C (n.*1243G>C)
c.2013G>C (p.Val671=)
c.2499G>C (p.Val833=)
c.2166G>C (p.Val722=)
c.2247G>C (p.Val749=)
c.2265G>C (p.Val755=)
c.1569G>C (p.Val523=)
c.1286-187G>C (n.1286-187G>C)
c.460G>C
n.3297G>C
n.1844G>C
c.2355G>C (p.Val785=)
n.212-3870G>C
c.2403G>C (p.Val801=)
c.2463G>C (p.Val821=)
c.315G>C (p.Val105=)
c.2085G>C (p.Val695=)
c.1167G>C (p.Val389=)
n.2718G>C
 ClinVar gnomAD v4
13g.51950348C>TCA483895777ATP7Bc.*332G>A (n.*332G>A)
c.*1243G>A (n.*1243G>A)
c.2013G>A (p.Val671=)
c.2499G>A (p.Val833=)
c.2166G>A (p.Val722=)
c.2247G>A (p.Val749=)
c.2265G>A (p.Val755=)
c.1569G>A (p.Val523=)
c.1286-187G>A (n.1286-187G>A)
c.460G>A
n.3297G>A
n.1844G>A
c.2355G>A (p.Val785=)
n.212-3870G>A
c.2403G>A (p.Val801=)
c.2463G>A (p.Val821=)
c.315G>A (p.Val105=)
c.2085G>A (p.Val695=)
c.1167G>A (p.Val389=)
n.2718G>A
13g.51950349A=CA2091542410ATP7Bc.*331T= (n.*331T=)
c.*1242T= (n.*1242T=)
c.2012T= (p.Val671=)
c.2498T= (p.Val833=)
c.2165T= (p.Val722=)
c.2246T= (p.Val749=)
c.2264T= (p.Val755=)
c.1568T= (p.Val523=)
c.1286-188T= (n.1286-188T=)
c.459T=
n.3296T=
n.1843T=
c.2354T= (p.Val785=)
n.212-3871T=
c.2402T= (p.Val801=)
c.2462T= (p.Val821=)
c.314T= (p.Val105=)
c.2084T= (p.Val695=)
c.1166T= (p.Val389=)
n.2717T=
13g.51950349A>CCA388016508ATP7Bc.*331T>G (n.*331T>G)
c.*1242T>G (n.*1242T>G)
c.2012T>G (p.Val671Gly)
c.2498T>G (p.Val833Gly)
c.2165T>G (p.Val722Gly)
c.2246T>G (p.Val749Gly)
c.2264T>G (p.Val755Gly)
c.1568T>G (p.Val523Gly)
c.1286-188T>G (n.1286-188T>G)
c.459T>G
n.3296T>G
n.1843T>G
c.2354T>G (p.Val785Gly)
n.212-3871T>G
c.2402T>G (p.Val801Gly)
c.2462T>G (p.Val821Gly)
c.314T>G (p.Val105Gly)
c.2084T>G (p.Val695Gly)
c.1166T>G (p.Val389Gly)
n.2717T>G
 dbSNP
13g.51950349A>GCA388016515ATP7Bc.*331T>C (n.*331T>C)
c.*1242T>C (n.*1242T>C)
c.2012T>C (p.Val671Ala)
c.2498T>C (p.Val833Ala)
c.2165T>C (p.Val722Ala)
c.2246T>C (p.Val749Ala)
c.2264T>C (p.Val755Ala)
c.1568T>C (p.Val523Ala)
c.1286-188T>C (n.1286-188T>C)
c.459T>C
n.3296T>C
n.1843T>C
c.2354T>C (p.Val785Ala)
n.212-3871T>C
c.2402T>C (p.Val801Ala)
c.2462T>C (p.Val821Ala)
c.314T>C (p.Val105Ala)
c.2084T>C (p.Val695Ala)
c.1166T>C (p.Val389Ala)
n.2717T>C
13g.51950349A>TCA388016524ATP7Bc.*331T>A (n.*331T>A)
c.*1242T>A (n.*1242T>A)
c.2012T>A (p.Val671Glu)
c.2498T>A (p.Val833Glu)
c.2165T>A (p.Val722Glu)
c.2246T>A (p.Val749Glu)
c.2264T>A (p.Val755Glu)
c.1568T>A (p.Val523Glu)
c.1286-188T>A (n.1286-188T>A)
c.459T>A
n.3296T>A
n.1843T>A
c.2354T>A (p.Val785Glu)
n.212-3871T>A
c.2402T>A (p.Val801Glu)
c.2462T>A (p.Val821Glu)
c.314T>A (p.Val105Glu)
c.2084T>A (p.Val695Glu)
c.1166T>A (p.Val389Glu)
n.2717T>A
13g.51950350C>ACA388016550ATP7Bc.*330G>T (n.*330G>T)
c.*1241G>T (n.*1241G>T)
c.2011G>T (p.Val671Leu)
c.2497G>T (p.Val833Leu)
c.2164G>T (p.Val722Leu)
c.2245G>T (p.Val749Leu)
c.2263G>T (p.Val755Leu)
c.1567G>T (p.Val523Leu)
c.1286-189G>T (n.1286-189G>T)
c.458G>T
n.3295G>T
n.1842G>T
c.2353G>T (p.Val785Leu)
n.212-3872G>T
c.2401G>T (p.Val801Leu)
c.2461G>T (p.Val821Leu)
c.313G>T (p.Val105Leu)
c.2083G>T (p.Val695Leu)
c.1165G>T (p.Val389Leu)
n.2716G>T
13g.51950350C>GCA388016530ATP7Bc.*330G>C (n.*330G>C)
c.*1241G>C (n.*1241G>C)
c.2011G>C (p.Val671Leu)
c.2497G>C (p.Val833Leu)
c.2164G>C (p.Val722Leu)
c.2245G>C (p.Val749Leu)
c.2263G>C (p.Val755Leu)
c.1567G>C (p.Val523Leu)
c.1286-189G>C (n.1286-189G>C)
c.458G>C
n.3295G>C
n.1842G>C
c.2353G>C (p.Val785Leu)
n.212-3872G>C
c.2401G>C (p.Val801Leu)
c.2461G>C (p.Val821Leu)
c.313G>C (p.Val105Leu)
c.2083G>C (p.Val695Leu)
c.1165G>C (p.Val389Leu)
n.2716G>C
13g.51950350C>TCA388016545ATP7Bc.*330G>A (n.*330G>A)
c.*1241G>A (n.*1241G>A)
c.2011G>A (p.Val671Met)
c.2497G>A (p.Val833Met)
c.2164G>A (p.Val722Met)
c.2245G>A (p.Val749Met)
c.2263G>A (p.Val755Met)
c.1567G>A (p.Val523Met)
c.1286-189G>A (n.1286-189G>A)
c.458G>A
n.3295G>A
n.1842G>A
c.2353G>A (p.Val785Met)
n.212-3872G>A
c.2401G>A (p.Val801Met)
c.2461G>A (p.Val821Met)
c.313G>A (p.Val105Met)
c.2083G>A (p.Val695Met)
c.1165G>A (p.Val389Met)
n.2716G>A
 gnomAD v4
13g.51950351dupCA2695199763ATP7Bc.*330dup (n.*330dup)
c.*1241dup (n.*1241dup)
c.2011dup (p.Val671GlyfsTer21)
c.2497dup (p.Val833GlyfsTer21)
c.2164dup (p.Val722GlyfsTer21)
c.2245dup (p.Val749GlyfsTer21)
c.2263dup (p.Val755GlyfsTer21)
c.1567dup (p.Val523GlyfsTer21)
c.1286-189dup (n.1286-189dup)
c.458dup
n.3295dup
n.1842dup
c.2353dup (p.Val785GlyfsTer21)
n.212-3872dup
c.2401dup (p.Val801GlyfsTer21)
c.2461dup (p.Val821GlyfsTer21)
c.313dup (p.Val105GlyfsTer21)
c.2083dup (p.Val695GlyfsTer21)
c.1165dup (p.Val389GlyfsTer21)
n.2716dup
 ClinVar
13g.51950351C>ACA388016558ATP7Bc.*329G>T (n.*329G>T)
c.*1240G>T (n.*1240G>T)
c.2010G>T (p.Lys670Asn)
c.2496G>T (p.Lys832Asn)
c.2163G>T (p.Lys721Asn)
c.2244G>T (p.Lys748Asn)
c.2262G>T (p.Lys754Asn)
c.1566G>T (p.Lys522Asn)
c.1286-190G>T (n.1286-190G>T)
c.457G>T
n.3294G>T
n.1841G>T
c.2352G>T (p.Lys784Asn)
n.212-3873G>T
c.2400G>T (p.Lys800Asn)
c.2460G>T (p.Lys820Asn)
c.312G>T (p.Lys104Asn)
c.2082G>T (p.Lys694Asn)
c.1164G>T (p.Lys388Asn)
n.2715G>T
13g.51950351C=CA2091542412ATP7Bc.*329G= (n.*329G=)
c.*1240G= (n.*1240G=)
c.2010G= (p.Lys670=)
c.2496G= (p.Lys832=)
c.2163G= (p.Lys721=)
c.2244G= (p.Lys748=)
c.2262G= (p.Lys754=)
c.1566G= (p.Lys522=)
c.1286-190G= (n.1286-190G=)
c.457G=
n.3294G=
n.1841G=
c.2352G= (p.Lys784=)
n.212-3873G=
c.2400G= (p.Lys800=)
c.2460G= (p.Lys820=)
c.312G= (p.Lys104=)
c.2082G= (p.Lys694=)
c.1164G= (p.Lys388=)
n.2715G=
13g.51950351C>GCA388016577ATP7Bc.*329G>C (n.*329G>C)
c.*1240G>C (n.*1240G>C)
c.2010G>C (p.Lys670Asn)
c.2496G>C (p.Lys832Asn)
c.2163G>C (p.Lys721Asn)
c.2244G>C (p.Lys748Asn)
c.2262G>C (p.Lys754Asn)
c.1566G>C (p.Lys522Asn)
c.1286-190G>C (n.1286-190G>C)
c.457G>C
n.3294G>C
n.1841G>C
c.2352G>C (p.Lys784Asn)
n.212-3873G>C
c.2400G>C (p.Lys800Asn)
c.2460G>C (p.Lys820Asn)
c.312G>C (p.Lys104Asn)
c.2082G>C (p.Lys694Asn)
c.1164G>C (p.Lys388Asn)
n.2715G>C
13g.51950351C>TCA483895778ATP7Bc.*329G>A (n.*329G>A)
c.*1240G>A (n.*1240G>A)
c.2010G>A (p.Lys670=)
c.2496G>A (p.Lys832=)
c.2163G>A (p.Lys721=)
c.2244G>A (p.Lys748=)
c.2262G>A (p.Lys754=)
c.1566G>A (p.Lys522=)
c.1286-190G>A (n.1286-190G>A)
c.457G>A
n.3294G>A
n.1841G>A
c.2352G>A (p.Lys784=)
n.212-3873G>A
c.2400G>A (p.Lys800=)
c.2460G>A (p.Lys820=)
c.312G>A (p.Lys104=)
c.2082G>A (p.Lys694=)
c.1164G>A (p.Lys388=)
n.2715G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51950351_51950352delinsTCCA2499222479ATP7Bc.*328_*329delinsGA (n.*328_*329delinsGA)
c.*1239_*1240delinsGA (n.*1239_*1240delinsGA)
c.2009_2010delinsGA (p.Lys670Arg)
c.2495_2496delinsGA (p.Lys832Arg)
c.2162_2163delinsGA (p.Lys721Arg)
c.2243_2244delinsGA (p.Lys748Arg)
c.2261_2262delinsGA (p.Lys754Arg)
c.1565_1566delinsGA (p.Lys522Arg)
c.1286-191_1286-190delinsGA (n.1286-191_1286-190delinsGA)
c.456_457delinsGA
n.3293_3294delinsGA
n.1840_1841delinsGA
c.2351_2352delinsGA (p.Lys784Arg)
n.212-3874_212-3873delinsGA
c.2399_2400delinsGA (p.Lys800Arg)
c.2459_2460delinsGA (p.Lys820Arg)
c.311_312delinsGA (p.Lys104Arg)
c.2081_2082delinsGA (p.Lys694Arg)
c.1163_1164delinsGA (p.Lys388Arg)
n.2714_2715delinsGA
 ClinVar dbSNP
13g.51950352T>ACA388016581ATP7Bc.*328A>T (n.*328A>T)
c.*1239A>T (n.*1239A>T)
c.2009A>T (p.Lys670Met)
c.2495A>T (p.Lys832Met)
c.2162A>T (p.Lys721Met)
c.2243A>T (p.Lys748Met)
c.2261A>T (p.Lys754Met)
c.1565A>T (p.Lys522Met)
c.1286-191A>T (n.1286-191A>T)
c.456A>T
n.3293A>T
n.1840A>T
c.2351A>T (p.Lys784Met)
n.212-3874A>T
c.2399A>T (p.Lys800Met)
c.2459A>T (p.Lys820Met)
c.311A>T (p.Lys104Met)
c.2081A>T (p.Lys694Met)
c.1163A>T (p.Lys388Met)
n.2714A>T
13g.51950352T>CCA145674ATP7Bc.*328A>G (n.*328A>G)
c.*1239A>G (n.*1239A>G)
c.2009A>G (p.Lys670Arg)
c.2495A>G (p.Lys832Arg)
c.2162A>G (p.Lys721Arg)
c.2243A>G (p.Lys748Arg)
c.2261A>G (p.Lys754Arg)
c.1565A>G (p.Lys522Arg)
c.1286-191A>G (n.1286-191A>G)
c.456A>G
n.3293A>G
n.1840A>G
c.2351A>G (p.Lys784Arg)
n.212-3874A>G
c.2399A>G (p.Lys800Arg)
c.2459A>G (p.Lys820Arg)
c.311A>G (p.Lys104Arg)
c.2081A>G (p.Lys694Arg)
c.1163A>G (p.Lys388Arg)
n.2714A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950352T>GCA388016584ATP7Bc.*328A>C (n.*328A>C)
c.*1239A>C (n.*1239A>C)
c.2009A>C (p.Lys670Thr)
c.2495A>C (p.Lys832Thr)
c.2162A>C (p.Lys721Thr)
c.2243A>C (p.Lys748Thr)
c.2261A>C (p.Lys754Thr)
c.1565A>C (p.Lys522Thr)
c.1286-191A>C (n.1286-191A>C)
c.456A>C
n.3293A>C
n.1840A>C
c.2351A>C (p.Lys784Thr)
n.212-3874A>C
c.2399A>C (p.Lys800Thr)
c.2459A>C (p.Lys820Thr)
c.311A>C (p.Lys104Thr)
c.2081A>C (p.Lys694Thr)
c.1163A>C (p.Lys388Thr)
n.2714A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51950352T=CA2091542418ATP7Bc.*328A= (n.*328A=)
c.*1239A= (n.*1239A=)
c.2009A= (p.Lys670=)
c.2495A= (p.Lys832=)
c.2162A= (p.Lys721=)
c.2243A= (p.Lys748=)
c.2261A= (p.Lys754=)
c.1565A= (p.Lys522=)
c.1286-191A= (n.1286-191A=)
c.456A=
n.3293A=
n.1840A=
c.2351A= (p.Lys784=)
n.212-3874A=
c.2399A= (p.Lys800=)
c.2459A= (p.Lys820=)
c.311A= (p.Lys104=)
c.2081A= (p.Lys694=)
c.1163A= (p.Lys388=)
n.2714A=
13g.51950353T>ACA388016589ATP7Bc.*327A>T (n.*327A>T)
c.*1238A>T (n.*1238A>T)
c.2008A>T (p.Lys670Ter)
c.2494A>T (p.Lys832Ter)
c.2161A>T (p.Lys721Ter)
c.2242A>T (p.Lys748Ter)
c.2260A>T (p.Lys754Ter)
c.1564A>T (p.Lys522Ter)
c.1286-192A>T (n.1286-192A>T)
c.455A>T
n.3292A>T
n.1839A>T
c.2350A>T (p.Lys784Ter)
n.212-3875A>T
c.2398A>T (p.Lys800Ter)
c.2458A>T (p.Lys820Ter)
c.310A>T (p.Lys104Ter)
c.2080A>T (p.Lys694Ter)
c.1162A>T (p.Lys388Ter)
n.2713A>T
13g.51950353T>CCA388016590ATP7Bc.*327A>G (n.*327A>G)
c.*1238A>G (n.*1238A>G)
c.2008A>G (p.Lys670Glu)
c.2494A>G (p.Lys832Glu)
c.2161A>G (p.Lys721Glu)
c.2242A>G (p.Lys748Glu)
c.2260A>G (p.Lys754Glu)
c.1564A>G (p.Lys522Glu)
c.1286-192A>G (n.1286-192A>G)
c.455A>G
n.3292A>G
n.1839A>G
c.2350A>G (p.Lys784Glu)
n.212-3875A>G
c.2398A>G (p.Lys800Glu)
c.2458A>G (p.Lys820Glu)
c.310A>G (p.Lys104Glu)
c.2080A>G (p.Lys694Glu)
c.1162A>G (p.Lys388Glu)
n.2713A>G
13g.51950353T>GCA388016591ATP7Bc.*327A>C (n.*327A>C)
c.*1238A>C (n.*1238A>C)
c.2008A>C (p.Lys670Gln)
c.2494A>C (p.Lys832Gln)
c.2161A>C (p.Lys721Gln)
c.2242A>C (p.Lys748Gln)
c.2260A>C (p.Lys754Gln)
c.1564A>C (p.Lys522Gln)
c.1286-192A>C (n.1286-192A>C)
c.455A>C
n.3292A>C
n.1839A>C
c.2350A>C (p.Lys784Gln)
n.212-3875A>C
c.2398A>C (p.Lys800Gln)
c.2458A>C (p.Lys820Gln)
c.310A>C (p.Lys104Gln)
c.2080A>C (p.Lys694Gln)
c.1162A>C (p.Lys388Gln)
n.2713A>C
 gnomAD v4
13g.51950354G>ACA6988988ATP7Bc.*326C>T (n.*326C>T)
c.*1237C>T (n.*1237C>T)
c.2007C>T (p.Val669=)
c.2493C>T (p.Val831=)
c.2160C>T (p.Val720=)
c.2241C>T (p.Val747=)
c.2259C>T (p.Val753=)
c.1563C>T (p.Val521=)
c.1286-193C>T (n.1286-193C>T)
c.454C>T
n.3291C>T
n.1838C>T
c.2349C>T (p.Val783=)
n.212-3876C>T
c.2397C>T (p.Val799=)
c.2457C>T (p.Val819=)
c.309C>T (p.Val103=)
c.2079C>T (p.Val693=)
c.1161C>T (p.Val387=)
n.2712C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950354G>CCA483895779ATP7Bc.*326C>G (n.*326C>G)
c.*1237C>G (n.*1237C>G)
c.2007C>G (p.Val669=)
c.2493C>G (p.Val831=)
c.2160C>G (p.Val720=)
c.2241C>G (p.Val747=)
c.2259C>G (p.Val753=)
c.1563C>G (p.Val521=)
c.1286-193C>G (n.1286-193C>G)
c.454C>G
n.3291C>G
n.1838C>G
c.2349C>G (p.Val783=)
n.212-3876C>G
c.2397C>G (p.Val799=)
c.2457C>G (p.Val819=)
c.309C>G (p.Val103=)
c.2079C>G (p.Val693=)
c.1161C>G (p.Val387=)
n.2712C>G
 dbSNP gnomAD v3 gnomAD v4
13g.51950354G=CA2091542425ATP7Bc.*326C= (n.*326C=)
c.*1237C= (n.*1237C=)
c.2007C= (p.Val669=)
c.2493C= (p.Val831=)
c.2160C= (p.Val720=)
c.2241C= (p.Val747=)
c.2259C= (p.Val753=)
c.1563C= (p.Val521=)
c.1286-193C= (n.1286-193C=)
c.454C=
n.3291C=
n.1838C=
c.2349C= (p.Val783=)
n.212-3876C=
c.2397C= (p.Val799=)
c.2457C= (p.Val819=)
c.309C= (p.Val103=)
c.2079C= (p.Val693=)
c.1161C= (p.Val387=)
n.2712C=
13g.51950354G>TCA483895780ATP7Bc.*326C>A (n.*326C>A)
c.*1237C>A (n.*1237C>A)
c.2007C>A (p.Val669=)
c.2493C>A (p.Val831=)
c.2160C>A (p.Val720=)
c.2241C>A (p.Val747=)
c.2259C>A (p.Val753=)
c.1563C>A (p.Val521=)
c.1286-193C>A (n.1286-193C>A)
c.454C>A
n.3291C>A
n.1838C>A
c.2349C>A (p.Val783=)
n.212-3876C>A
c.2397C>A (p.Val799=)
c.2457C>A (p.Val819=)
c.309C>A (p.Val103=)
c.2079C>A (p.Val693=)
c.1161C>A (p.Val387=)
n.2712C>A
13g.51950355A>CCA388016601ATP7Bc.*325T>G (n.*325T>G)
c.*1236T>G (n.*1236T>G)
c.2006T>G (p.Val669Gly)
c.2492T>G (p.Val831Gly)
c.2159T>G (p.Val720Gly)
c.2240T>G (p.Val747Gly)
c.2258T>G (p.Val753Gly)
c.1562T>G (p.Val521Gly)
c.1286-194T>G (n.1286-194T>G)
c.453T>G
n.3290T>G
n.1837T>G
c.2348T>G (p.Val783Gly)
n.212-3877T>G
c.2396T>G (p.Val799Gly)
c.2456T>G (p.Val819Gly)
c.308T>G (p.Val103Gly)
c.2078T>G (p.Val693Gly)
c.1160T>G (p.Val387Gly)
n.2711T>G
13g.51950355A>GCA388016605ATP7Bc.*325T>C (n.*325T>C)
c.*1236T>C (n.*1236T>C)
c.2006T>C (p.Val669Ala)
c.2492T>C (p.Val831Ala)
c.2159T>C (p.Val720Ala)
c.2240T>C (p.Val747Ala)
c.2258T>C (p.Val753Ala)
c.1562T>C (p.Val521Ala)
c.1286-194T>C (n.1286-194T>C)
c.453T>C
n.3290T>C
n.1837T>C
c.2348T>C (p.Val783Ala)
n.212-3877T>C
c.2396T>C (p.Val799Ala)
c.2456T>C (p.Val819Ala)
c.308T>C (p.Val103Ala)
c.2078T>C (p.Val693Ala)
c.1160T>C (p.Val387Ala)
n.2711T>C
 ClinVar gnomAD v4
13g.51950355A>TCA388016606ATP7Bc.*325T>A (n.*325T>A)
c.*1236T>A (n.*1236T>A)
c.2006T>A (p.Val669Asp)
c.2492T>A (p.Val831Asp)
c.2159T>A (p.Val720Asp)
c.2240T>A (p.Val747Asp)
c.2258T>A (p.Val753Asp)
c.1562T>A (p.Val521Asp)
c.1286-194T>A (n.1286-194T>A)
c.453T>A
n.3290T>A
n.1837T>A
c.2348T>A (p.Val783Asp)
n.212-3877T>A
c.2396T>A (p.Val799Asp)
c.2456T>A (p.Val819Asp)
c.308T>A (p.Val103Asp)
c.2078T>A (p.Val693Asp)
c.1160T>A (p.Val387Asp)
n.2711T>A
13g.51950356C>ACA388016611ATP7Bc.*324G>T (n.*324G>T)
c.*1235G>T (n.*1235G>T)
c.2005G>T (p.Val669Phe)
c.2491G>T (p.Val831Phe)
c.2158G>T (p.Val720Phe)
c.2239G>T (p.Val747Phe)
c.2257G>T (p.Val753Phe)
c.1561G>T (p.Val521Phe)
c.1286-195G>T (n.1286-195G>T)
c.452G>T
n.3289G>T
n.1836G>T
c.2347G>T (p.Val783Phe)
n.212-3878G>T
c.2395G>T (p.Val799Phe)
c.2455G>T (p.Val819Phe)
c.307G>T (p.Val103Phe)
c.2077G>T (p.Val693Phe)
c.1159G>T (p.Val387Phe)
n.2710G>T
13g.51950356C=CA2091542428ATP7Bc.*324G= (n.*324G=)
c.*1235G= (n.*1235G=)
c.2005G= (p.Val669=)
c.2491G= (p.Val831=)
c.2158G= (p.Val720=)
c.2239G= (p.Val747=)
c.2257G= (p.Val753=)
c.1561G= (p.Val521=)
c.1286-195G= (n.1286-195G=)
c.452G=
n.3289G=
n.1836G=
c.2347G= (p.Val783=)
n.212-3878G=
c.2395G= (p.Val799=)
c.2455G= (p.Val819=)
c.307G= (p.Val103=)
c.2077G= (p.Val693=)
c.1159G= (p.Val387=)
n.2710G=
13g.51950356C>GCA388016617ATP7Bc.*324G>C (n.*324G>C)
c.*1235G>C (n.*1235G>C)
c.2005G>C (p.Val669Leu)
c.2491G>C (p.Val831Leu)
c.2158G>C (p.Val720Leu)
c.2239G>C (p.Val747Leu)
c.2257G>C (p.Val753Leu)
c.1561G>C (p.Val521Leu)
c.1286-195G>C (n.1286-195G>C)
c.452G>C
n.3289G>C
n.1836G>C
c.2347G>C (p.Val783Leu)
n.212-3878G>C
c.2395G>C (p.Val799Leu)
c.2455G>C (p.Val819Leu)
c.307G>C (p.Val103Leu)
c.2077G>C (p.Val693Leu)
c.1159G>C (p.Val387Leu)
n.2710G>C
 gnomAD v4
13g.51950356C>TCA6988989ATP7Bc.*324G>A (n.*324G>A)
c.*1235G>A (n.*1235G>A)
c.2005G>A (p.Val669Ile)
c.2491G>A (p.Val831Ile)
c.2158G>A (p.Val720Ile)
c.2239G>A (p.Val747Ile)
c.2257G>A (p.Val753Ile)
c.1561G>A (p.Val521Ile)
c.1286-195G>A (n.1286-195G>A)
c.452G>A
n.3289G>A
n.1836G>A
c.2347G>A (p.Val783Ile)
n.212-3878G>A
c.2395G>A (p.Val799Ile)
c.2455G>A (p.Val819Ile)
c.307G>A (p.Val103Ile)
c.2077G>A (p.Val693Ile)
c.1159G>A (p.Val387Ile)
n.2710G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950357G>ACA6988990ATP7Bc.*323C>T (n.*323C>T)
c.*1234C>T (n.*1234C>T)
c.2004C>T (p.Ile668=)
c.2490C>T (p.Ile830=)
c.2157C>T (p.Ile719=)
c.2238C>T (p.Ile746=)
c.2256C>T (p.Ile752=)
c.1560C>T (p.Ile520=)
c.1286-196C>T (n.1286-196C>T)
c.451C>T
n.3288C>T
n.1835C>T
c.2346C>T (p.Ile782=)
n.212-3879C>T
c.2394C>T (p.Ile798=)
c.2454C>T (p.Ile818=)
c.306C>T (p.Ile102=)
c.2076C>T (p.Ile692=)
c.1158C>T (p.Ile386=)
n.2709C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950357G>CCA388016627ATP7Bc.*323C>G (n.*323C>G)
c.*1234C>G (n.*1234C>G)
c.2004C>G (p.Ile668Met)
c.2490C>G (p.Ile830Met)
c.2157C>G (p.Ile719Met)
c.2238C>G (p.Ile746Met)
c.2256C>G (p.Ile752Met)
c.1560C>G (p.Ile520Met)
c.1286-196C>G (n.1286-196C>G)
c.451C>G
n.3288C>G
n.1835C>G
c.2346C>G (p.Ile782Met)
n.212-3879C>G
c.2394C>G (p.Ile798Met)
c.2454C>G (p.Ile818Met)
c.306C>G (p.Ile102Met)
c.2076C>G (p.Ile692Met)
c.1158C>G (p.Ile386Met)
n.2709C>G
13g.51950357G=CA2091542430ATP7Bc.*323C= (n.*323C=)
c.*1234C= (n.*1234C=)
c.2004C= (p.Ile668=)
c.2490C= (p.Ile830=)
c.2157C= (p.Ile719=)
c.2238C= (p.Ile746=)
c.2256C= (p.Ile752=)
c.1560C= (p.Ile520=)
c.1286-196C= (n.1286-196C=)
c.451C=
n.3288C=
n.1835C=
c.2346C= (p.Ile782=)
n.212-3879C=
c.2394C= (p.Ile798=)
c.2454C= (p.Ile818=)
c.306C= (p.Ile102=)
c.2076C= (p.Ile692=)
c.1158C= (p.Ile386=)
n.2709C=
13g.51950357G>TCA483895781ATP7Bc.*323C>A (n.*323C>A)
c.*1234C>A (n.*1234C>A)
c.2004C>A (p.Ile668=)
c.2490C>A (p.Ile830=)
c.2157C>A (p.Ile719=)
c.2238C>A (p.Ile746=)
c.2256C>A (p.Ile752=)
c.1560C>A (p.Ile520=)
c.1286-196C>A (n.1286-196C>A)
c.451C>A
n.3288C>A
n.1835C>A
c.2346C>A (p.Ile782=)
n.212-3879C>A
c.2394C>A (p.Ile798=)
c.2454C>A (p.Ile818=)
c.306C>A (p.Ile102=)
c.2076C>A (p.Ile692=)
c.1158C>A (p.Ile386=)
n.2709C>A
13g.51950358A=CA2091542435ATP7Bc.*322T= (n.*322T=)
c.*1233T= (n.*1233T=)
c.2003T= (p.Ile668=)
c.2489T= (p.Ile830=)
c.2156T= (p.Ile719=)
c.2237T= (p.Ile746=)
c.2255T= (p.Ile752=)
c.1559T= (p.Ile520=)
c.1286-197T= (n.1286-197T=)
c.450T=
n.3287T=
n.1834T=
c.2345T= (p.Ile782=)
n.212-3880T=
c.2393T= (p.Ile798=)
c.2453T= (p.Ile818=)
c.305T= (p.Ile102=)
c.2075T= (p.Ile692=)
c.1157T= (p.Ile386=)
n.2708T=
13g.51950358A>CCA388016632ATP7Bc.*322T>G (n.*322T>G)
c.*1233T>G (n.*1233T>G)
c.2003T>G (p.Ile668Ser)
c.2489T>G (p.Ile830Ser)
c.2156T>G (p.Ile719Ser)
c.2237T>G (p.Ile746Ser)
c.2255T>G (p.Ile752Ser)
c.1559T>G (p.Ile520Ser)
c.1286-197T>G (n.1286-197T>G)
c.450T>G
n.3287T>G
n.1834T>G
c.2345T>G (p.Ile782Ser)
n.212-3880T>G
c.2393T>G (p.Ile798Ser)
c.2453T>G (p.Ile818Ser)
c.305T>G (p.Ile102Ser)
c.2075T>G (p.Ile692Ser)
c.1157T>G (p.Ile386Ser)
n.2708T>G
 dbSNP
13g.51950358A>GCA388016636ATP7Bc.*322T>C (n.*322T>C)
c.*1233T>C (n.*1233T>C)
c.2003T>C (p.Ile668Thr)
c.2489T>C (p.Ile830Thr)
c.2156T>C (p.Ile719Thr)
c.2237T>C (p.Ile746Thr)
c.2255T>C (p.Ile752Thr)
c.1559T>C (p.Ile520Thr)
c.1286-197T>C (n.1286-197T>C)
c.450T>C
n.3287T>C
n.1834T>C
c.2345T>C (p.Ile782Thr)
n.212-3880T>C
c.2393T>C (p.Ile798Thr)
c.2453T>C (p.Ile818Thr)
c.305T>C (p.Ile102Thr)
c.2075T>C (p.Ile692Thr)
c.1157T>C (p.Ile386Thr)
n.2708T>C
 gnomAD v4
13g.51950358A>TCA388016645ATP7Bc.*322T>A (n.*322T>A)
c.*1233T>A (n.*1233T>A)
c.2003T>A (p.Ile668Asn)
c.2489T>A (p.Ile830Asn)
c.2156T>A (p.Ile719Asn)
c.2237T>A (p.Ile746Asn)
c.2255T>A (p.Ile752Asn)
c.1559T>A (p.Ile520Asn)
c.1286-197T>A (n.1286-197T>A)
c.450T>A
n.3287T>A
n.1834T>A
c.2345T>A (p.Ile782Asn)
n.212-3880T>A
c.2393T>A (p.Ile798Asn)
c.2453T>A (p.Ile818Asn)
c.305T>A (p.Ile102Asn)
c.2075T>A (p.Ile692Asn)
c.1157T>A (p.Ile386Asn)
n.2708T>A
13g.51950359T>ACA388016649ATP7Bc.*321A>T (n.*321A>T)
c.*1232A>T (n.*1232A>T)
c.2002A>T (p.Ile668Phe)
c.2488A>T (p.Ile830Phe)
c.2155A>T (p.Ile719Phe)
c.2236A>T (p.Ile746Phe)
c.2254A>T (p.Ile752Phe)
c.1558A>T (p.Ile520Phe)
c.1286-198A>T (n.1286-198A>T)
c.449A>T
n.3286A>T
n.1833A>T
c.2344A>T (p.Ile782Phe)
n.212-3881A>T
c.2392A>T (p.Ile798Phe)
c.2452A>T (p.Ile818Phe)
c.304A>T (p.Ile102Phe)
c.2074A>T (p.Ile692Phe)
c.1156A>T (p.Ile386Phe)
n.2707A>T
13g.51950359T>CCA388016655ATP7Bc.*321A>G (n.*321A>G)
c.*1232A>G (n.*1232A>G)
c.2002A>G (p.Ile668Val)
c.2488A>G (p.Ile830Val)
c.2155A>G (p.Ile719Val)
c.2236A>G (p.Ile746Val)
c.2254A>G (p.Ile752Val)
c.1558A>G (p.Ile520Val)
c.1286-198A>G (n.1286-198A>G)
c.449A>G
n.3286A>G
n.1833A>G
c.2344A>G (p.Ile782Val)
n.212-3881A>G
c.2392A>G (p.Ile798Val)
c.2452A>G (p.Ile818Val)
c.304A>G (p.Ile102Val)
c.2074A>G (p.Ile692Val)
c.1156A>G (p.Ile386Val)
n.2707A>G
13g.51950359T>GCA388016660ATP7Bc.*321A>C (n.*321A>C)
c.*1232A>C (n.*1232A>C)
c.2002A>C (p.Ile668Leu)
c.2488A>C (p.Ile830Leu)
c.2155A>C (p.Ile719Leu)
c.2236A>C (p.Ile746Leu)
c.2254A>C (p.Ile752Leu)
c.1558A>C (p.Ile520Leu)
c.1286-198A>C (n.1286-198A>C)
c.449A>C
n.3286A>C
n.1833A>C
c.2344A>C (p.Ile782Leu)
n.212-3881A>C
c.2392A>C (p.Ile798Leu)
c.2452A>C (p.Ile818Leu)
c.304A>C (p.Ile102Leu)
c.2074A>C (p.Ile692Leu)
c.1156A>C (p.Ile386Leu)
n.2707A>C
13g.51950360A>CCA388016665ATP7Bc.*320T>G (n.*320T>G)
c.*1231T>G (n.*1231T>G)
c.2001T>G (p.Asp667Glu)
c.2487T>G (p.Asp829Glu)
c.2154T>G (p.Asp718Glu)
c.2235T>G (p.Asp745Glu)
c.2253T>G (p.Asp751Glu)
c.1557T>G (p.Asp519Glu)
c.1286-199T>G (n.1286-199T>G)
c.448T>G
n.3285T>G
n.1832T>G
c.2343T>G (p.Asp781Glu)
n.212-3882T>G
c.2391T>G (p.Asp797Glu)
c.2451T>G (p.Asp817Glu)
c.303T>G (p.Asp101Glu)
c.2073T>G (p.Asp691Glu)
c.1155T>G (p.Asp385Glu)
n.2706T>G
13g.51950360A>GCA483895782ATP7Bc.*320T>C (n.*320T>C)
c.*1231T>C (n.*1231T>C)
c.2001T>C (p.Asp667=)
c.2487T>C (p.Asp829=)
c.2154T>C (p.Asp718=)
c.2235T>C (p.Asp745=)
c.2253T>C (p.Asp751=)
c.1557T>C (p.Asp519=)
c.1286-199T>C (n.1286-199T>C)
c.448T>C
n.3285T>C
n.1832T>C
c.2343T>C (p.Asp781=)
n.212-3882T>C
c.2391T>C (p.Asp797=)
c.2451T>C (p.Asp817=)
c.303T>C (p.Asp101=)
c.2073T>C (p.Asp691=)
c.1155T>C (p.Asp385=)
n.2706T>C
13g.51950360A>TCA388016669ATP7Bc.*320T>A (n.*320T>A)
c.*1231T>A (n.*1231T>A)
c.2001T>A (p.Asp667Glu)
c.2487T>A (p.Asp829Glu)
c.2154T>A (p.Asp718Glu)
c.2235T>A (p.Asp745Glu)
c.2253T>A (p.Asp751Glu)
c.1557T>A (p.Asp519Glu)
c.1286-199T>A (n.1286-199T>A)
c.448T>A
n.3285T>A
n.1832T>A
c.2343T>A (p.Asp781Glu)
n.212-3882T>A
c.2391T>A (p.Asp797Glu)
c.2451T>A (p.Asp817Glu)
c.303T>A (p.Asp101Glu)
c.2073T>A (p.Asp691Glu)
c.1155T>A (p.Asp385Glu)
n.2706T>A
13g.51950361T>ACA388016678ATP7Bc.*319A>T (n.*319A>T)
c.*1230A>T (n.*1230A>T)
c.2000A>T (p.Asp667Val)
c.2486A>T (p.Asp829Val)
c.2153A>T (p.Asp718Val)
c.2234A>T (p.Asp745Val)
c.2252A>T (p.Asp751Val)
c.1556A>T (p.Asp519Val)
c.1286-200A>T (n.1286-200A>T)
c.447A>T
n.3284A>T
n.1831A>T
c.2342A>T (p.Asp781Val)
n.212-3883A>T
c.2390A>T (p.Asp797Val)
c.2450A>T (p.Asp817Val)
c.302A>T (p.Asp101Val)
c.2072A>T (p.Asp691Val)
c.1154A>T (p.Asp385Val)
n.2705A>T
 ClinVar gnomAD v4
13g.51950361T>CCA388016681ATP7Bc.*319A>G (n.*319A>G)
c.*1230A>G (n.*1230A>G)
c.2000A>G (p.Asp667Gly)
c.2486A>G (p.Asp829Gly)
c.2153A>G (p.Asp718Gly)
c.2234A>G (p.Asp745Gly)
c.2252A>G (p.Asp751Gly)
c.1556A>G (p.Asp519Gly)
c.1286-200A>G (n.1286-200A>G)
c.447A>G
n.3284A>G
n.1831A>G
c.2342A>G (p.Asp781Gly)
n.212-3883A>G
c.2390A>G (p.Asp797Gly)
c.2450A>G (p.Asp817Gly)
c.302A>G (p.Asp101Gly)
c.2072A>G (p.Asp691Gly)
c.1154A>G (p.Asp385Gly)
n.2705A>G
 ClinVar dbSNP gnomAD v4
13g.51950361T>GCA388016685ATP7Bc.*319A>C (n.*319A>C)
c.*1230A>C (n.*1230A>C)
c.2000A>C (p.Asp667Ala)
c.2486A>C (p.Asp829Ala)
c.2153A>C (p.Asp718Ala)
c.2234A>C (p.Asp745Ala)
c.2252A>C (p.Asp751Ala)
c.1556A>C (p.Asp519Ala)
c.1286-200A>C (n.1286-200A>C)
c.447A>C
n.3284A>C
n.1831A>C
c.2342A>C (p.Asp781Ala)
n.212-3883A>C
c.2390A>C (p.Asp797Ala)
c.2450A>C (p.Asp817Ala)
c.302A>C (p.Asp101Ala)
c.2072A>C (p.Asp691Ala)
c.1154A>C (p.Asp385Ala)
n.2705A>C
13g.51950361T=CA2091542440ATP7Bc.*319A= (n.*319A=)
c.*1230A= (n.*1230A=)
c.2000A= (p.Asp667=)
c.2486A= (p.Asp829=)
c.2153A= (p.Asp718=)
c.2234A= (p.Asp745=)
c.2252A= (p.Asp751=)
c.1556A= (p.Asp519=)
c.1286-200A= (n.1286-200A=)
c.447A=
n.3284A=
n.1831A=
c.2342A= (p.Asp781=)
n.212-3883A=
c.2390A= (p.Asp797=)
c.2450A= (p.Asp817=)
c.302A= (p.Asp101=)
c.2072A= (p.Asp691=)
c.1154A= (p.Asp385=)
n.2705A=
13g.51950362C>ACA388016693ATP7Bc.*318G>T (n.*318G>T)
c.*1229G>T (n.*1229G>T)
c.1999G>T (p.Asp667Tyr)
c.2485G>T (p.Asp829Tyr)
c.2152G>T (p.Asp718Tyr)
c.2233G>T (p.Asp745Tyr)
c.2251G>T (p.Asp751Tyr)
c.1555G>T (p.Asp519Tyr)
c.1286-201G>T (n.1286-201G>T)
c.446G>T
n.3283G>T
n.1830G>T
c.2341G>T (p.Asp781Tyr)
n.212-3884G>T
c.2389G>T (p.Asp797Tyr)
c.2449G>T (p.Asp817Tyr)
c.301G>T (p.Asp101Tyr)
c.2071G>T (p.Asp691Tyr)
c.1153G>T (p.Asp385Tyr)
n.2704G>T
13g.51950362C=CA2091542445ATP7Bc.*318G= (n.*318G=)
c.*1229G= (n.*1229G=)
c.1999G= (p.Asp667=)
c.2485G= (p.Asp829=)
c.2152G= (p.Asp718=)
c.2233G= (p.Asp745=)
c.2251G= (p.Asp751=)
c.1555G= (p.Asp519=)
c.1286-201G= (n.1286-201G=)
c.446G=
n.3283G=
n.1830G=
c.2341G= (p.Asp781=)
n.212-3884G=
c.2389G= (p.Asp797=)
c.2449G= (p.Asp817=)
c.301G= (p.Asp101=)
c.2071G= (p.Asp691=)
c.1153G= (p.Asp385=)
n.2704G=
13g.51950362C>GCA250058572ATP7Bc.*318G>C (n.*318G>C)
c.*1229G>C (n.*1229G>C)
c.1999G>C (p.Asp667His)
c.2485G>C (p.Asp829His)
c.2152G>C (p.Asp718His)
c.2233G>C (p.Asp745His)
c.2251G>C (p.Asp751His)
c.1555G>C (p.Asp519His)
c.1286-201G>C (n.1286-201G>C)
c.446G>C
n.3283G>C
n.1830G>C
c.2341G>C (p.Asp781His)
n.212-3884G>C
c.2389G>C (p.Asp797His)
c.2449G>C (p.Asp817His)
c.301G>C (p.Asp101His)
c.2071G>C (p.Asp691His)
c.1153G>C (p.Asp385His)
n.2704G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51950362C>TCA6988991ATP7Bc.*318G>A (n.*318G>A)
c.*1229G>A (n.*1229G>A)
c.1999G>A (p.Asp667Asn)
c.2485G>A (p.Asp829Asn)
c.2152G>A (p.Asp718Asn)
c.2233G>A (p.Asp745Asn)
c.2251G>A (p.Asp751Asn)
c.1555G>A (p.Asp519Asn)
c.1286-201G>A (n.1286-201G>A)
c.446G>A
n.3283G>A
n.1830G>A
c.2341G>A (p.Asp781Asn)
n.212-3884G>A
c.2389G>A (p.Asp797Asn)
c.2449G>A (p.Asp817Asn)
c.301G>A (p.Asp101Asn)
c.2071G>A (p.Asp691Asn)
c.1153G>A (p.Asp385Asn)
n.2704G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950363G>ACA6988992ATP7Bc.*317C>T (n.*317C>T)
c.*1228C>T (n.*1228C>T)
c.1998C>T (p.Gly666=)
c.2484C>T (p.Gly828=)
c.2151C>T (p.Gly717=)
c.2232C>T (p.Gly744=)
c.2250C>T (p.Gly750=)
c.1554C>T (p.Gly518=)
c.1286-202C>T (n.1286-202C>T)
c.445C>T
n.3282C>T
n.1829C>T
c.2340C>T (p.Gly780=)
n.212-3885C>T
c.2388C>T (p.Gly796=)
c.2448C>T (p.Gly816=)
c.300C>T (p.Gly100=)
c.2070C>T (p.Gly690=)
c.1152C>T (p.Gly384=)
n.2703C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950363G>CCA483895783ATP7Bc.*317C>G (n.*317C>G)
c.*1228C>G (n.*1228C>G)
c.1998C>G (p.Gly666=)
c.2484C>G (p.Gly828=)
c.2151C>G (p.Gly717=)
c.2232C>G (p.Gly744=)
c.2250C>G (p.Gly750=)
c.1554C>G (p.Gly518=)
c.1286-202C>G (n.1286-202C>G)
c.445C>G
n.3282C>G
n.1829C>G
c.2340C>G (p.Gly780=)
n.212-3885C>G
c.2388C>G (p.Gly796=)
c.2448C>G (p.Gly816=)
c.300C>G (p.Gly100=)
c.2070C>G (p.Gly690=)
c.1152C>G (p.Gly384=)
n.2703C>G
13g.51950363G=CA2091542453ATP7Bc.*317C= (n.*317C=)
c.*1228C= (n.*1228C=)
c.1998C= (p.Gly666=)
c.2484C= (p.Gly828=)
c.2151C= (p.Gly717=)
c.2232C= (p.Gly744=)
c.2250C= (p.Gly750=)
c.1554C= (p.Gly518=)
c.1286-202C= (n.1286-202C=)
c.445C=
n.3282C=
n.1829C=
c.2340C= (p.Gly780=)
n.212-3885C=
c.2388C= (p.Gly796=)
c.2448C= (p.Gly816=)
c.300C= (p.Gly100=)
c.2070C= (p.Gly690=)
c.1152C= (p.Gly384=)
n.2703C=
13g.51950363G>TCA483895784ATP7Bc.*317C>A (n.*317C>A)
c.*1228C>A (n.*1228C>A)
c.1998C>A (p.Gly666=)
c.2484C>A (p.Gly828=)
c.2151C>A (p.Gly717=)
c.2232C>A (p.Gly744=)
c.2250C>A (p.Gly750=)
c.1554C>A (p.Gly518=)
c.1286-202C>A (n.1286-202C>A)
c.445C>A
n.3282C>A
n.1829C>A
c.2340C>A (p.Gly780=)
n.212-3885C>A
c.2388C>A (p.Gly796=)
c.2448C>A (p.Gly816=)
c.300C>A (p.Gly100=)
c.2070C>A (p.Gly690=)
c.1152C>A (p.Gly384=)
n.2703C>A
13g.51950364C>ACA388016699ATP7Bc.*316G>T (n.*316G>T)
c.*1227G>T (n.*1227G>T)
c.1997G>T (p.Gly666Val)
c.2483G>T (p.Gly828Val)
c.2150G>T (p.Gly717Val)
c.2231G>T (p.Gly744Val)
c.2249G>T (p.Gly750Val)
c.1553G>T (p.Gly518Val)
c.1286-203G>T (n.1286-203G>T)
c.444G>T
n.3281G>T
n.1828G>T
c.2339G>T (p.Gly780Val)
n.212-3886G>T
c.2387G>T (p.Gly796Val)
c.2447G>T (p.Gly816Val)
c.299G>T (p.Gly100Val)
c.2069G>T (p.Gly690Val)
c.1151G>T (p.Gly384Val)
n.2702G>T
 gnomAD v4
13g.51950364C>GCA388016700ATP7Bc.*316G>C (n.*316G>C)
c.*1227G>C (n.*1227G>C)
c.1997G>C (p.Gly666Ala)
c.2483G>C (p.Gly828Ala)
c.2150G>C (p.Gly717Ala)
c.2231G>C (p.Gly744Ala)
c.2249G>C (p.Gly750Ala)
c.1553G>C (p.Gly518Ala)
c.1286-203G>C (n.1286-203G>C)
c.444G>C
n.3281G>C
n.1828G>C
c.2339G>C (p.Gly780Ala)
n.212-3886G>C
c.2387G>C (p.Gly796Ala)
c.2447G>C (p.Gly816Ala)
c.299G>C (p.Gly100Ala)
c.2069G>C (p.Gly690Ala)
c.1151G>C (p.Gly384Ala)
n.2702G>C
13g.51950364C>TCA388016715ATP7Bc.*316G>A (n.*316G>A)
c.*1227G>A (n.*1227G>A)
c.1997G>A (p.Gly666Asp)
c.2483G>A (p.Gly828Asp)
c.2150G>A (p.Gly717Asp)
c.2231G>A (p.Gly744Asp)
c.2249G>A (p.Gly750Asp)
c.1553G>A (p.Gly518Asp)
c.1286-203G>A (n.1286-203G>A)
c.444G>A
n.3281G>A
n.1828G>A
c.2339G>A (p.Gly780Asp)
n.212-3886G>A
c.2387G>A (p.Gly796Asp)
c.2447G>A (p.Gly816Asp)
c.299G>A (p.Gly100Asp)
c.2069G>A (p.Gly690Asp)
c.1151G>A (p.Gly384Asp)
n.2702G>A
13g.51950365C>ACA388016727ATP7Bc.*315G>T (n.*315G>T)
c.*1226G>T (n.*1226G>T)
c.1996G>T (p.Gly666Cys)
c.2482G>T (p.Gly828Cys)
c.2149G>T (p.Gly717Cys)
c.2230G>T (p.Gly744Cys)
c.2248G>T (p.Gly750Cys)
c.1552G>T (p.Gly518Cys)
c.1286-204G>T (n.1286-204G>T)
c.443G>T
n.3280G>T
n.1827G>T
c.2338G>T (p.Gly780Cys)
n.212-3887G>T
c.2386G>T (p.Gly796Cys)
c.2446G>T (p.Gly816Cys)
c.298G>T (p.Gly100Cys)
c.2068G>T (p.Gly690Cys)
c.1150G>T (p.Gly384Cys)
n.2701G>T
13g.51950365C>GCA388016728ATP7Bc.*315G>C (n.*315G>C)
c.*1226G>C (n.*1226G>C)
c.1996G>C (p.Gly666Arg)
c.2482G>C (p.Gly828Arg)
c.2149G>C (p.Gly717Arg)
c.2230G>C (p.Gly744Arg)
c.2248G>C (p.Gly750Arg)
c.1552G>C (p.Gly518Arg)
c.1286-204G>C (n.1286-204G>C)
c.443G>C
n.3280G>C
n.1827G>C
c.2338G>C (p.Gly780Arg)
n.212-3887G>C
c.2386G>C (p.Gly796Arg)
c.2446G>C (p.Gly816Arg)
c.298G>C (p.Gly100Arg)
c.2068G>C (p.Gly690Arg)
c.1150G>C (p.Gly384Arg)
n.2701G>C
13g.51950365C>TCA388016733ATP7Bc.*315G>A (n.*315G>A)
c.*1226G>A (n.*1226G>A)
c.1996G>A (p.Gly666Ser)
c.2482G>A (p.Gly828Ser)
c.2149G>A (p.Gly717Ser)
c.2230G>A (p.Gly744Ser)
c.2248G>A (p.Gly750Ser)
c.1552G>A (p.Gly518Ser)
c.1286-204G>A (n.1286-204G>A)
c.443G>A
n.3280G>A
n.1827G>A
c.2338G>A (p.Gly780Ser)
n.212-3887G>A
c.2386G>A (p.Gly796Ser)
c.2446G>A (p.Gly816Ser)
c.298G>A (p.Gly100Ser)
c.2068G>A (p.Gly690Ser)
c.1150G>A (p.Gly384Ser)
n.2701G>A
13g.51950366C>ACA483895787ATP7Bc.*314G>T (n.*314G>T)
c.*1225G>T (n.*1225G>T)
c.1995G>T (p.Arg665=)
c.2481G>T (p.Arg827=)
c.2148G>T (p.Arg716=)
c.2229G>T (p.Arg743=)
c.2247G>T (p.Arg749=)
c.1551G>T (p.Arg517=)
c.1286-205G>T (n.1286-205G>T)
c.442G>T
n.3279G>T
n.1826G>T
c.2337G>T (p.Arg779=)
n.212-3888G>T
c.2385G>T (p.Arg795=)
c.2445G>T (p.Arg815=)
c.297G>T (p.Arg99=)
c.2067G>T (p.Arg689=)
c.1149G>T (p.Arg383=)
n.2700G>T
13g.51950366C>GCA483895785ATP7Bc.*314G>C (n.*314G>C)
c.*1225G>C (n.*1225G>C)
c.1995G>C (p.Arg665=)
c.2481G>C (p.Arg827=)
c.2148G>C (p.Arg716=)
c.2229G>C (p.Arg743=)
c.2247G>C (p.Arg749=)
c.1551G>C (p.Arg517=)
c.1286-205G>C (n.1286-205G>C)
c.442G>C
n.3279G>C
n.1826G>C
c.2337G>C (p.Arg779=)
n.212-3888G>C
c.2385G>C (p.Arg795=)
c.2445G>C (p.Arg815=)
c.297G>C (p.Arg99=)
c.2067G>C (p.Arg689=)
c.1149G>C (p.Arg383=)
n.2700G>C
13g.51950366C>TCA483895786ATP7Bc.*314G>A (n.*314G>A)
c.*1225G>A (n.*1225G>A)
c.1995G>A (p.Arg665=)
c.2481G>A (p.Arg827=)
c.2148G>A (p.Arg716=)
c.2229G>A (p.Arg743=)
c.2247G>A (p.Arg749=)
c.1551G>A (p.Arg517=)
c.1286-205G>A (n.1286-205G>A)
c.442G>A
n.3279G>A
n.1826G>A
c.2337G>A (p.Arg779=)
n.212-3888G>A
c.2385G>A (p.Arg795=)
c.2445G>A (p.Arg815=)
c.297G>A (p.Arg99=)
c.2067G>A (p.Arg689=)
c.1149G>A (p.Arg383=)
n.2700G>A
13g.51950367C>ACA388016742ATP7Bc.*313G>T (n.*313G>T)
c.*1224G>T (n.*1224G>T)
c.1994G>T (p.Arg665Leu)
c.2480G>T (p.Arg827Leu)
c.2147G>T (p.Arg716Leu)
c.2228G>T (p.Arg743Leu)
c.2246G>T (p.Arg749Leu)
c.1550G>T (p.Arg517Leu)
c.1286-206G>T (n.1286-206G>T)
c.441G>T
n.3278G>T
n.1825G>T
c.2336G>T (p.Arg779Leu)
n.212-3889G>T
c.2384G>T (p.Arg795Leu)
c.2444G>T (p.Arg815Leu)
c.296G>T (p.Arg99Leu)
c.2066G>T (p.Arg689Leu)
c.1148G>T (p.Arg383Leu)
n.2699G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950367C=CA2091542463ATP7Bc.*313G= (n.*313G=)
c.*1224G= (n.*1224G=)
c.1994G= (p.Arg665=)
c.2480G= (p.Arg827=)
c.2147G= (p.Arg716=)
c.2228G= (p.Arg743=)
c.2246G= (p.Arg749=)
c.1550G= (p.Arg517=)
c.1286-206G= (n.1286-206G=)
c.441G=
n.3278G=
n.1825G=
c.2336G= (p.Arg779=)
n.212-3889G=
c.2384G= (p.Arg795=)
c.2444G= (p.Arg815=)
c.296G= (p.Arg99=)
c.2066G= (p.Arg689=)
c.1148G= (p.Arg383=)
n.2699G=
13g.51950367C>GCA388016746ATP7Bc.*313G>C (n.*313G>C)
c.*1224G>C (n.*1224G>C)
c.1994G>C (p.Arg665Pro)
c.2480G>C (p.Arg827Pro)
c.2147G>C (p.Arg716Pro)
c.2228G>C (p.Arg743Pro)
c.2246G>C (p.Arg749Pro)
c.1550G>C (p.Arg517Pro)
c.1286-206G>C (n.1286-206G>C)
c.441G>C
n.3278G>C
n.1825G>C
c.2336G>C (p.Arg779Pro)
n.212-3889G>C
c.2384G>C (p.Arg795Pro)
c.2444G>C (p.Arg815Pro)
c.296G>C (p.Arg99Pro)
c.2066G>C (p.Arg689Pro)
c.1148G>C (p.Arg383Pro)
n.2699G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950367C>TCA6988993ATP7Bc.*313G>A (n.*313G>A)
c.*1224G>A (n.*1224G>A)
c.1994G>A (p.Arg665Gln)
c.2480G>A (p.Arg827Gln)
c.2147G>A (p.Arg716Gln)
c.2228G>A (p.Arg743Gln)
c.2246G>A (p.Arg749Gln)
c.1550G>A (p.Arg517Gln)
c.1286-206G>A (n.1286-206G>A)
c.441G>A
n.3278G>A
n.1825G>A
c.2336G>A (p.Arg779Gln)
n.212-3889G>A
c.2384G>A (p.Arg795Gln)
c.2444G>A (p.Arg815Gln)
c.296G>A (p.Arg99Gln)
c.2066G>A (p.Arg689Gln)
c.1148G>A (p.Arg383Gln)
n.2699G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950367_51950369delinsCGCCA2091542471ATP7Bc.*311_*313delinsGCG (n.*311_*313delinsGCG)
c.*1222_*1224delinsGCG (n.*1222_*1224delinsGCG)
c.1992_1994delinsGCG (p.Gln664=)
c.2478_2480delinsGCG (p.Gln826=)
c.2145_2147delinsGCG (p.Gln715=)
c.2226_2228delinsGCG (p.Gln742=)
c.2244_2246delinsGCG (p.Gln748=)
c.1548_1550delinsGCG (p.Gln516=)
c.1286-208_1286-206delinsGCG (n.1286-208_1286-206delinsGCG)
c.439_441delinsGCG
n.3276_3278delinsGCG
n.1823_1825delinsGCG
c.2334_2336delinsGCG (p.Gln778=)
n.212-3891_212-3889delinsGCG
c.2382_2384delinsGCG (p.Gln794=)
c.2442_2444delinsGCG (p.Gln814=)
c.294_296delinsGCG (p.Gln98=)
c.2064_2066delinsGCG (p.Gln688=)
c.1146_1148delinsGCG (p.Gln382=)
n.2697_2699delinsGCG
13g.51950368G>ACA6988994ATP7Bc.*312C>T (n.*312C>T)
c.*1223C>T (n.*1223C>T)
c.1993C>T (p.Arg665Trp)
c.2479C>T (p.Arg827Trp)
c.2146C>T (p.Arg716Trp)
c.2227C>T (p.Arg743Trp)
c.2245C>T (p.Arg749Trp)
c.1549C>T (p.Arg517Trp)
c.1286-207C>T (n.1286-207C>T)
c.440C>T
n.3277C>T
n.1824C>T
c.2335C>T (p.Arg779Trp)
n.212-3890C>T
c.2383C>T (p.Arg795Trp)
c.2443C>T (p.Arg815Trp)
c.295C>T (p.Arg99Trp)
c.2065C>T (p.Arg689Trp)
c.1147C>T (p.Arg383Trp)
n.2698C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51950368G>CCA388016758ATP7Bc.*312C>G (n.*312C>G)
c.*1223C>G (n.*1223C>G)
c.1993C>G (p.Arg665Gly)
c.2479C>G (p.Arg827Gly)
c.2146C>G (p.Arg716Gly)
c.2227C>G (p.Arg743Gly)
c.2245C>G (p.Arg749Gly)
c.1549C>G (p.Arg517Gly)
c.1286-207C>G (n.1286-207C>G)
c.440C>G
n.3277C>G
n.1824C>G
c.2335C>G (p.Arg779Gly)
n.212-3890C>G
c.2383C>G (p.Arg795Gly)
c.2443C>G (p.Arg815Gly)
c.295C>G (p.Arg99Gly)
c.2065C>G (p.Arg689Gly)
c.1147C>G (p.Arg383Gly)
n.2698C>G
13g.51950368G=CA2091542482ATP7Bc.*312C= (n.*312C=)
c.*1223C= (n.*1223C=)
c.1993C= (p.Arg665=)
c.2479C= (p.Arg827=)
c.2146C= (p.Arg716=)
c.2227C= (p.Arg743=)
c.2245C= (p.Arg749=)
c.1549C= (p.Arg517=)
c.1286-207C= (n.1286-207C=)
c.440C=
n.3277C=
n.1824C=
c.2335C= (p.Arg779=)
n.212-3890C=
c.2383C= (p.Arg795=)
c.2443C= (p.Arg815=)
c.295C= (p.Arg99=)
c.2065C= (p.Arg689=)
c.1147C= (p.Arg383=)
n.2698C=
13g.51950368G>TCA483895788ATP7Bc.*312C>A (n.*312C>A)
c.*1223C>A (n.*1223C>A)
c.1993C>A (p.Arg665=)
c.2479C>A (p.Arg827=)
c.2146C>A (p.Arg716=)
c.2227C>A (p.Arg743=)
c.2245C>A (p.Arg749=)
c.1549C>A (p.Arg517=)
c.1286-207C>A (n.1286-207C>A)
c.440C>A
n.3277C>A
n.1824C>A
c.2335C>A (p.Arg779=)
n.212-3890C>A
c.2383C>A (p.Arg795=)
c.2443C>A (p.Arg815=)
c.295C>A (p.Arg99=)
c.2065C>A (p.Arg689=)
c.1147C>A (p.Arg383=)
n.2698C>A
13g.51950368_51950369delinsACA658798149ATP7Bc.*311_*312delinsT (n.*311_*312delinsT)
c.*1222_*1223delinsT (n.*1222_*1223delinsT)
c.1992_1993delinsT (p.Gln664HisfsTer?)
c.2478_2479delinsT (p.Gln826HisfsTer?)
c.2145_2146delinsT (p.Gln715HisfsTer?)
c.2226_2227delinsT (p.Gln742HisfsTer?)
c.2244_2245delinsT (p.Gln748HisfsTer?)
c.1548_1549delinsT (p.Gln516HisfsTer?)
c.1286-208_1286-207delinsT (n.1286-208_1286-207delinsT)
c.439_440delinsT
n.3276_3277delinsT
n.1823_1824delinsT
c.2334_2335delinsT (p.Gln778HisfsTer?)
n.212-3891_212-3890delinsT
c.2382_2383delinsT (p.Gln794HisfsTer?)
c.2442_2443delinsT (p.Gln814HisfsTer?)
c.294_295delinsT (p.Gln98HisfsTer?)
c.2064_2065delinsT (p.Gln688HisfsTer?)
c.1146_1147delinsT (p.Gln382HisfsTer?)
n.2697_2698delinsT
 ClinVar dbSNP
13g.51950369C>ACA388016763ATP7Bc.*311G>T (n.*311G>T)
c.*1222G>T (n.*1222G>T)
c.1992G>T (p.Gln664His)
c.2478G>T (p.Gln826His)
c.2145G>T (p.Gln715His)
c.2226G>T (p.Gln742His)
c.2244G>T (p.Gln748His)
c.1548G>T (p.Gln516His)
c.1286-208G>T (n.1286-208G>T)
c.439G>T
n.3276G>T
n.1823G>T
c.2334G>T (p.Gln778His)
n.212-3891G>T
c.2382G>T (p.Gln794His)
c.2442G>T (p.Gln814His)
c.294G>T (p.Gln98His)
c.2064G>T (p.Gln688His)
c.1146G>T (p.Gln382His)
n.2697G>T
13g.51950369C>GCA388016768ATP7Bc.*311G>C (n.*311G>C)
c.*1222G>C (n.*1222G>C)
c.1992G>C (p.Gln664His)
c.2478G>C (p.Gln826His)
c.2145G>C (p.Gln715His)
c.2226G>C (p.Gln742His)
c.2244G>C (p.Gln748His)
c.1548G>C (p.Gln516His)
c.1286-208G>C (n.1286-208G>C)
c.439G>C
n.3276G>C
n.1823G>C
c.2334G>C (p.Gln778His)
n.212-3891G>C
c.2382G>C (p.Gln794His)
c.2442G>C (p.Gln814His)
c.294G>C (p.Gln98His)
c.2064G>C (p.Gln688His)
c.1146G>C (p.Gln382His)
n.2697G>C
13g.51950369C>TCA483895789ATP7Bc.*311G>A (n.*311G>A)
c.*1222G>A (n.*1222G>A)
c.1992G>A (p.Gln664=)
c.2478G>A (p.Gln826=)
c.2145G>A (p.Gln715=)
c.2226G>A (p.Gln742=)
c.2244G>A (p.Gln748=)
c.1548G>A (p.Gln516=)
c.1286-208G>A (n.1286-208G>A)
c.439G>A
n.3276G>A
n.1823G>A
c.2334G>A (p.Gln778=)
n.212-3891G>A
c.2382G>A (p.Gln794=)
c.2442G>A (p.Gln814=)
c.294G>A (p.Gln98=)
c.2064G>A (p.Gln688=)
c.1146G>A (p.Gln382=)
n.2697G>A
13g.51950370T>ACA388016785ATP7Bc.*310A>T (n.*310A>T)
c.*1221A>T (n.*1221A>T)
c.1991A>T (p.Gln664Leu)
c.2477A>T (p.Gln826Leu)
c.2144A>T (p.Gln715Leu)
c.2225A>T (p.Gln742Leu)
c.2243A>T (p.Gln748Leu)
c.1547A>T (p.Gln516Leu)
c.1286-209A>T (n.1286-209A>T)
c.438A>T
n.3275A>T
n.1822A>T
c.2333A>T (p.Gln778Leu)
n.212-3892A>T
c.2381A>T (p.Gln794Leu)
c.2441A>T (p.Gln814Leu)
c.293A>T (p.Gln98Leu)
c.2063A>T (p.Gln688Leu)
c.1145A>T (p.Gln382Leu)
n.2696A>T
13g.51950370T>CCA388016789ATP7Bc.*310A>G (n.*310A>G)
c.*1221A>G (n.*1221A>G)
c.1991A>G (p.Gln664Arg)
c.2477A>G (p.Gln826Arg)
c.2144A>G (p.Gln715Arg)
c.2225A>G (p.Gln742Arg)
c.2243A>G (p.Gln748Arg)
c.1547A>G (p.Gln516Arg)
c.1286-209A>G (n.1286-209A>G)
c.438A>G
n.3275A>G
n.1822A>G
c.2333A>G (p.Gln778Arg)
n.212-3892A>G
c.2381A>G (p.Gln794Arg)
c.2441A>G (p.Gln814Arg)
c.293A>G (p.Gln98Arg)
c.2063A>G (p.Gln688Arg)
c.1145A>G (p.Gln382Arg)
n.2696A>G
13g.51950370T>GCA388016779ATP7Bc.*310A>C (n.*310A>C)
c.*1221A>C (n.*1221A>C)
c.1991A>C (p.Gln664Pro)
c.2477A>C (p.Gln826Pro)
c.2144A>C (p.Gln715Pro)
c.2225A>C (p.Gln742Pro)
c.2243A>C (p.Gln748Pro)
c.1547A>C (p.Gln516Pro)
c.1286-209A>C (n.1286-209A>C)
c.438A>C
n.3275A>C
n.1822A>C
c.2333A>C (p.Gln778Pro)
n.212-3892A>C
c.2381A>C (p.Gln794Pro)
c.2441A>C (p.Gln814Pro)
c.293A>C (p.Gln98Pro)
c.2063A>C (p.Gln688Pro)
c.1145A>C (p.Gln382Pro)
n.2696A>C
13g.51950371G>ACA388016790ATP7Bc.*309C>T (n.*309C>T)
c.*1220C>T (n.*1220C>T)
c.1990C>T (p.Gln664Ter)
c.2476C>T (p.Gln826Ter)
c.2143C>T (p.Gln715Ter)
c.2224C>T (p.Gln742Ter)
c.2242C>T (p.Gln748Ter)
c.1546C>T (p.Gln516Ter)
c.1286-210C>T (n.1286-210C>T)
c.437C>T
n.3274C>T
n.1821C>T
c.2332C>T (p.Gln778Ter)
n.212-3893C>T
c.2380C>T (p.Gln794Ter)
c.2440C>T (p.Gln814Ter)
c.292C>T (p.Gln98Ter)
c.2062C>T (p.Gln688Ter)
c.1144C>T (p.Gln382Ter)
n.2695C>T
 gnomAD v4
13g.51950371G>CCA388016792ATP7Bc.*309C>G (n.*309C>G)
c.*1220C>G (n.*1220C>G)
c.1990C>G (p.Gln664Glu)
c.2476C>G (p.Gln826Glu)
c.2143C>G (p.Gln715Glu)
c.2224C>G (p.Gln742Glu)
c.2242C>G (p.Gln748Glu)
c.1546C>G (p.Gln516Glu)
c.1286-210C>G (n.1286-210C>G)
c.437C>G
n.3274C>G
n.1821C>G
c.2332C>G (p.Gln778Glu)
n.212-3893C>G
c.2380C>G (p.Gln794Glu)
c.2440C>G (p.Gln814Glu)
c.292C>G (p.Gln98Glu)
c.2062C>G (p.Gln688Glu)
c.1144C>G (p.Gln382Glu)
n.2695C>G
13g.51950371G>TCA388016807ATP7Bc.*309C>A (n.*309C>A)
c.*1220C>A (n.*1220C>A)
c.1990C>A (p.Gln664Lys)
c.2476C>A (p.Gln826Lys)
c.2143C>A (p.Gln715Lys)
c.2224C>A (p.Gln742Lys)
c.2242C>A (p.Gln748Lys)
c.1546C>A (p.Gln516Lys)
c.1286-210C>A (n.1286-210C>A)
c.437C>A
n.3274C>A
n.1821C>A
c.2332C>A (p.Gln778Lys)
n.212-3893C>A
c.2380C>A (p.Gln794Lys)
c.2440C>A (p.Gln814Lys)
c.292C>A (p.Gln98Lys)
c.2062C>A (p.Gln688Lys)
c.1144C>A (p.Gln382Lys)
n.2695C>A
13g.51950372C>ACA483895790ATP7Bc.*308G>T (n.*308G>T)
c.*1219G>T (n.*1219G>T)
c.1989G>T (p.Val663=)
c.2475G>T (p.Val825=)
c.2142G>T (p.Val714=)
c.2223G>T (p.Val741=)
c.2241G>T (p.Val747=)
c.1545G>T (p.Val515=)
c.1286-211G>T (n.1286-211G>T)
c.436G>T
n.3273G>T
n.1820G>T
c.2331G>T (p.Val777=)
n.212-3894G>T
c.2379G>T (p.Val793=)
c.2439G>T (p.Val813=)
c.291G>T (p.Val97=)
c.2061G>T (p.Val687=)
c.1143G>T (p.Val381=)
n.2694G>T
13g.51950372C=CA2091542488ATP7Bc.*308G= (n.*308G=)
c.*1219G= (n.*1219G=)
c.1989G= (p.Val663=)
c.2475G= (p.Val825=)
c.2142G= (p.Val714=)
c.2223G= (p.Val741=)
c.2241G= (p.Val747=)
c.1545G= (p.Val515=)
c.1286-211G= (n.1286-211G=)
c.436G=
n.3273G=
n.1820G=
c.2331G= (p.Val777=)
n.212-3894G=
c.2379G= (p.Val793=)
c.2439G= (p.Val813=)
c.291G= (p.Val97=)
c.2061G= (p.Val687=)
c.1143G= (p.Val381=)
n.2694G=
13g.51950372C>GCA483895791ATP7Bc.*308G>C (n.*308G>C)
c.*1219G>C (n.*1219G>C)
c.1989G>C (p.Val663=)
c.2475G>C (p.Val825=)
c.2142G>C (p.Val714=)
c.2223G>C (p.Val741=)
c.2241G>C (p.Val747=)
c.1545G>C (p.Val515=)
c.1286-211G>C (n.1286-211G>C)
c.436G>C
n.3273G>C
n.1820G>C
c.2331G>C (p.Val777=)
n.212-3894G>C
c.2379G>C (p.Val793=)
c.2439G>C (p.Val813=)
c.291G>C (p.Val97=)
c.2061G>C (p.Val687=)
c.1143G>C (p.Val381=)
n.2694G>C
13g.51950372C>TCA6988995ATP7Bc.*308G>A (n.*308G>A)
c.*1219G>A (n.*1219G>A)
c.1989G>A (p.Val663=)
c.2475G>A (p.Val825=)
c.2142G>A (p.Val714=)
c.2223G>A (p.Val741=)
c.2241G>A (p.Val747=)
c.1545G>A (p.Val515=)
c.1286-211G>A (n.1286-211G>A)
c.436G>A
n.3273G>A
n.1820G>A
c.2331G>A (p.Val777=)
n.212-3894G>A
c.2379G>A (p.Val793=)
c.2439G>A (p.Val813=)
c.291G>A (p.Val97=)
c.2061G>A (p.Val687=)
c.1143G>A (p.Val381=)
n.2694G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950373A>CCA388016818ATP7Bc.*307T>G (n.*307T>G)
c.*1218T>G (n.*1218T>G)
c.1988T>G (p.Val663Gly)
c.2474T>G (p.Val825Gly)
c.2141T>G (p.Val714Gly)
c.2222T>G (p.Val741Gly)
c.2240T>G (p.Val747Gly)
c.1544T>G (p.Val515Gly)
c.1286-212T>G (n.1286-212T>G)
c.435T>G
n.3272T>G
n.1819T>G
c.2330T>G (p.Val777Gly)
n.212-3895T>G
c.2378T>G (p.Val793Gly)
c.2438T>G (p.Val813Gly)
c.290T>G (p.Val97Gly)
c.2060T>G (p.Val687Gly)
c.1142T>G (p.Val381Gly)
n.2693T>G
13g.51950373A>GCA388016819ATP7Bc.*307T>C (n.*307T>C)
c.*1218T>C (n.*1218T>C)
c.1988T>C (p.Val663Ala)
c.2474T>C (p.Val825Ala)
c.2141T>C (p.Val714Ala)
c.2222T>C (p.Val741Ala)
c.2240T>C (p.Val747Ala)
c.1544T>C (p.Val515Ala)
c.1286-212T>C (n.1286-212T>C)
c.435T>C
n.3272T>C
n.1819T>C
c.2330T>C (p.Val777Ala)
n.212-3895T>C
c.2378T>C (p.Val793Ala)
c.2438T>C (p.Val813Ala)
c.290T>C (p.Val97Ala)
c.2060T>C (p.Val687Ala)
c.1142T>C (p.Val381Ala)
n.2693T>C
13g.51950373A>TCA388016839ATP7Bc.*307T>A (n.*307T>A)
c.*1218T>A (n.*1218T>A)
c.1988T>A (p.Val663Glu)
c.2474T>A (p.Val825Glu)
c.2141T>A (p.Val714Glu)
c.2222T>A (p.Val741Glu)
c.2240T>A (p.Val747Glu)
c.1544T>A (p.Val515Glu)
c.1286-212T>A (n.1286-212T>A)
c.435T>A
n.3272T>A
n.1819T>A
c.2330T>A (p.Val777Glu)
n.212-3895T>A
c.2378T>A (p.Val793Glu)
c.2438T>A (p.Val813Glu)
c.290T>A (p.Val97Glu)
c.2060T>A (p.Val687Glu)
c.1142T>A (p.Val381Glu)
n.2693T>A
 COSMIC
13g.51950374C>ACA388016847ATP7Bc.*306G>T (n.*306G>T)
c.*1217G>T (n.*1217G>T)
c.1987G>T (p.Val663Leu)
c.2473G>T (p.Val825Leu)
c.2140G>T (p.Val714Leu)
c.2221G>T (p.Val741Leu)
c.2239G>T (p.Val747Leu)
c.1543G>T (p.Val515Leu)
c.1286-213G>T (n.1286-213G>T)
c.434G>T
n.3271G>T
n.1818G>T
c.2329G>T (p.Val777Leu)
n.212-3896G>T
c.2377G>T (p.Val793Leu)
c.2437G>T (p.Val813Leu)
c.289G>T (p.Val97Leu)
c.2059G>T (p.Val687Leu)
c.1141G>T (p.Val381Leu)
n.2692G>T
13g.51950374C=CA2091542494ATP7Bc.*306G= (n.*306G=)
c.*1217G= (n.*1217G=)
c.1987G= (p.Val663=)
c.2473G= (p.Val825=)
c.2140G= (p.Val714=)
c.2221G= (p.Val741=)
c.2239G= (p.Val747=)
c.1543G= (p.Val515=)
c.1286-213G= (n.1286-213G=)
c.434G=
n.3271G=
n.1818G=
c.2329G= (p.Val777=)
n.212-3896G=
c.2377G= (p.Val793=)
c.2437G= (p.Val813=)
c.289G= (p.Val97=)
c.2059G= (p.Val687=)
c.1141G= (p.Val381=)
n.2692G=
13g.51950374C>GCA388016849ATP7Bc.*306G>C (n.*306G>C)
c.*1217G>C (n.*1217G>C)
c.1987G>C (p.Val663Leu)
c.2473G>C (p.Val825Leu)
c.2140G>C (p.Val714Leu)
c.2221G>C (p.Val741Leu)
c.2239G>C (p.Val747Leu)
c.1543G>C (p.Val515Leu)
c.1286-213G>C (n.1286-213G>C)
c.434G>C
n.3271G>C
n.1818G>C
c.2329G>C (p.Val777Leu)
n.212-3896G>C
c.2377G>C (p.Val793Leu)
c.2437G>C (p.Val813Leu)
c.289G>C (p.Val97Leu)
c.2059G>C (p.Val687Leu)
c.1141G>C (p.Val381Leu)
n.2692G>C
 gnomAD v4
13g.51950374C>TCA388016853ATP7Bc.*306G>A (n.*306G>A)
c.*1217G>A (n.*1217G>A)
c.1987G>A (p.Val663Met)
c.2473G>A (p.Val825Met)
c.2140G>A (p.Val714Met)
c.2221G>A (p.Val741Met)
c.2239G>A (p.Val747Met)
c.1543G>A (p.Val515Met)
c.1286-213G>A (n.1286-213G>A)
c.434G>A
n.3271G>A
n.1818G>A
c.2329G>A (p.Val777Met)
n.212-3896G>A
c.2377G>A (p.Val793Met)
c.2437G>A (p.Val813Met)
c.289G>A (p.Val97Met)
c.2059G>A (p.Val687Met)
c.1141G>A (p.Val381Met)
n.2692G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51950375C>ACA483895792ATP7Bc.*305G>T (n.*305G>T)
c.*1216G>T (n.*1216G>T)
c.1986G>T (p.Leu662=)
c.2472G>T (p.Leu824=)
c.2139G>T (p.Leu713=)
c.2220G>T (p.Leu740=)
c.2238G>T (p.Leu746=)
c.1542G>T (p.Leu514=)
c.1286-214G>T (n.1286-214G>T)
c.433G>T
n.3270G>T
n.1817G>T
c.2328G>T (p.Leu776=)
n.212-3897G>T
c.2376G>T (p.Leu792=)
c.2436G>T (p.Leu812=)
c.288G>T (p.Leu96=)
c.2058G>T (p.Leu686=)
c.1140G>T (p.Leu380=)
n.2691G>T
13g.51950375C>GCA483895793ATP7Bc.*305G>C (n.*305G>C)
c.*1216G>C (n.*1216G>C)
c.1986G>C (p.Leu662=)
c.2472G>C (p.Leu824=)
c.2139G>C (p.Leu713=)
c.2220G>C (p.Leu740=)
c.2238G>C (p.Leu746=)
c.1542G>C (p.Leu514=)
c.1286-214G>C (n.1286-214G>C)
c.433G>C
n.3270G>C
n.1817G>C
c.2328G>C (p.Leu776=)
n.212-3897G>C
c.2376G>C (p.Leu792=)
c.2436G>C (p.Leu812=)
c.288G>C (p.Leu96=)
c.2058G>C (p.Leu686=)
c.1140G>C (p.Leu380=)
n.2691G>C
13g.51950375C>TCA483895794ATP7Bc.*305G>A (n.*305G>A)
c.*1216G>A (n.*1216G>A)
c.1986G>A (p.Leu662=)
c.2472G>A (p.Leu824=)
c.2139G>A (p.Leu713=)
c.2220G>A (p.Leu740=)
c.2238G>A (p.Leu746=)
c.1542G>A (p.Leu514=)
c.1286-214G>A (n.1286-214G>A)
c.433G>A
n.3270G>A
n.1817G>A
c.2328G>A (p.Leu776=)
n.212-3897G>A
c.2376G>A (p.Leu792=)
c.2436G>A (p.Leu812=)
c.288G>A (p.Leu96=)
c.2058G>A (p.Leu686=)
c.1140G>A (p.Leu380=)
n.2691G>A
13g.51950376A>CCA388016861ATP7Bc.*304T>G (n.*304T>G)
c.*1215T>G (n.*1215T>G)
c.1985T>G (p.Leu662Arg)
c.2471T>G (p.Leu824Arg)
c.2138T>G (p.Leu713Arg)
c.2219T>G (p.Leu740Arg)
c.2237T>G (p.Leu746Arg)
c.1541T>G (p.Leu514Arg)
c.1286-215T>G (n.1286-215T>G)
c.432T>G
n.3269T>G
n.1816T>G
c.2327T>G (p.Leu776Arg)
n.212-3898T>G
c.2375T>G (p.Leu792Arg)
c.2435T>G (p.Leu812Arg)
c.287T>G (p.Leu96Arg)
c.2057T>G (p.Leu686Arg)
c.1139T>G (p.Leu380Arg)
n.2690T>G
13g.51950376A>GCA388016877ATP7Bc.*304T>C (n.*304T>C)
c.*1215T>C (n.*1215T>C)
c.1985T>C (p.Leu662Pro)
c.2471T>C (p.Leu824Pro)
c.2138T>C (p.Leu713Pro)
c.2219T>C (p.Leu740Pro)
c.2237T>C (p.Leu746Pro)
c.1541T>C (p.Leu514Pro)
c.1286-215T>C (n.1286-215T>C)
c.432T>C
n.3269T>C
n.1816T>C
c.2327T>C (p.Leu776Pro)
n.212-3898T>C
c.2375T>C (p.Leu792Pro)
c.2435T>C (p.Leu812Pro)
c.287T>C (p.Leu96Pro)
c.2057T>C (p.Leu686Pro)
c.1139T>C (p.Leu380Pro)
n.2690T>C
13g.51950376A>TCA388016883ATP7Bc.*304T>A (n.*304T>A)
c.*1215T>A (n.*1215T>A)
c.1985T>A (p.Leu662Gln)
c.2471T>A (p.Leu824Gln)
c.2138T>A (p.Leu713Gln)
c.2219T>A (p.Leu740Gln)
c.2237T>A (p.Leu746Gln)
c.1541T>A (p.Leu514Gln)
c.1286-215T>A (n.1286-215T>A)
c.432T>A
n.3269T>A
n.1816T>A
c.2327T>A (p.Leu776Gln)
n.212-3898T>A
c.2375T>A (p.Leu792Gln)
c.2435T>A (p.Leu812Gln)
c.287T>A (p.Leu96Gln)
c.2057T>A (p.Leu686Gln)
c.1139T>A (p.Leu380Gln)
n.2690T>A
13g.51950376_51950384delinsAGCTCCATGCA2091542496ATP7Bc.*296_*304delinsCATGGAGCT (n.*296_*304delinsCATGGAGCT)
c.*1207_*1215delinsCATGGAGCT (n.*1207_*1215delinsCATGGAGCT)
c.1977_1985delinsCATGGAGCT (p.Pro659=)
c.2463_2471delinsCATGGAGCT (p.Pro821=)
c.2130_2138delinsCATGGAGCT (p.Pro710=)
c.2211_2219delinsCATGGAGCT (p.Pro737=)
c.2229_2237delinsCATGGAGCT (p.Pro743=)
c.1533_1541delinsCATGGAGCT (p.Pro511=)
c.1286-223_1286-215delinsCATGGAGCT (n.1286-223_1286-215delinsCATGGAGCT)
c.424_432delinsCATGGAGCT
n.3261_3269delinsCATGGAGCT
n.1808_1816delinsCATGGAGCT
c.2319_2327delinsCATGGAGCT (p.Pro773=)
n.212-3906_212-3898delinsCATGGAGCT
c.2367_2375delinsCATGGAGCT (p.Pro789=)
c.2427_2435delinsCATGGAGCT (p.Pro809=)
c.279_287delinsCATGGAGCT (p.Pro93=)
c.2049_2057delinsCATGGAGCT (p.Pro683=)
c.1131_1139delinsCATGGAGCT (p.Pro377=)
n.2682_2690delinsCATGGAGCT
13g.51950377G>ACA483895795ATP7Bc.*303C>T (n.*303C>T)
c.*1214C>T (n.*1214C>T)
c.1984C>T (p.Leu662=)
c.2470C>T (p.Leu824=)
c.2137C>T (p.Leu713=)
c.2218C>T (p.Leu740=)
c.2236C>T (p.Leu746=)
c.1540C>T (p.Leu514=)
c.1286-216C>T (n.1286-216C>T)
c.431C>T
n.3268C>T
n.1815C>T
c.2326C>T (p.Leu776=)
n.212-3899C>T
c.2374C>T (p.Leu792=)
c.2434C>T (p.Leu812=)
c.286C>T (p.Leu96=)
c.2056C>T (p.Leu686=)
c.1138C>T (p.Leu380=)
n.2689C>T
13g.51950377G>CCA388016890ATP7Bc.*303C>G (n.*303C>G)
c.*1214C>G (n.*1214C>G)
c.1984C>G (p.Leu662Val)
c.2470C>G (p.Leu824Val)
c.2137C>G (p.Leu713Val)
c.2218C>G (p.Leu740Val)
c.2236C>G (p.Leu746Val)
c.1540C>G (p.Leu514Val)
c.1286-216C>G (n.1286-216C>G)
c.431C>G
n.3268C>G
n.1815C>G
c.2326C>G (p.Leu776Val)
n.212-3899C>G
c.2374C>G (p.Leu792Val)
c.2434C>G (p.Leu812Val)
c.286C>G (p.Leu96Val)
c.2056C>G (p.Leu686Val)
c.1138C>G (p.Leu380Val)
n.2689C>G
13g.51950377G>TCA388016888ATP7Bc.*303C>A (n.*303C>A)
c.*1214C>A (n.*1214C>A)
c.1984C>A (p.Leu662Met)
c.2470C>A (p.Leu824Met)
c.2137C>A (p.Leu713Met)
c.2218C>A (p.Leu740Met)
c.2236C>A (p.Leu746Met)
c.1540C>A (p.Leu514Met)
c.1286-216C>A (n.1286-216C>A)
c.431C>A
n.3268C>A
n.1815C>A
c.2326C>A (p.Leu776Met)
n.212-3899C>A
c.2374C>A (p.Leu792Met)
c.2434C>A (p.Leu812Met)
c.286C>A (p.Leu96Met)
c.2056C>A (p.Leu686Met)
c.1138C>A (p.Leu380Met)
n.2689C>A
13g.51950378_51950385delCA6988996ATP7Bc.*296_*303del (n.*296_*303del)
c.*1207_*1214del (n.*1207_*1214del)
c.1977_1984del (p.Met660GlyfsTer29)
c.2463_2470del (p.Met822GlyfsTer29)
c.2130_2137del (p.Met711GlyfsTer29)
c.2211_2218del (p.Met738GlyfsTer29)
c.2229_2236del (p.Met744GlyfsTer29)
c.1533_1540del (p.Met512GlyfsTer29)
c.1286-223_1286-216del (n.1286-223_1286-216del)
c.424_431del
n.3261_3268del
n.1808_1815del
c.2319_2326del (p.Met774GlyfsTer29)
n.212-3906_212-3899del
c.2367_2374del (p.Met790GlyfsTer29)
c.2427_2434del (p.Met810GlyfsTer29)
c.279_286del (p.Met94GlyfsTer29)
c.2049_2056del (p.Met684GlyfsTer29)
c.1131_1138del (p.Met378GlyfsTer29)
n.2682_2689del
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched