Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53248122_53248136delCA2695233924IQSEC2c.2720_2734del (p.Glu907_Glu911del)
c.513_527del
c.22_36del
c.2561_2575del (p.Glu854_Glu858del)
n.312_326del
c.2531_2545del (p.Glu844_Glu848del)
c.1946_1960del (p.Glu649_Glu653del)
c.2657_2671del (p.Glu886_Glu890del)
c.1883_1897del (p.Glu628_Glu632del)
c.1850_1864del (p.Glu617_Glu621del)
n.2884_2898del
c.2063_2077del (p.Glu688_Glu692del)
n.2878_2892del
Xg.53248127T>ACA413156850IQSEC2c.2728A>T (p.Ile910Phe)
c.521A>T
c.30A>T
c.2569A>T (p.Ile857Phe)
n.320A>T
c.2539A>T (p.Ile847Phe)
c.1954A>T (p.Ile652Phe)
c.2665A>T (p.Ile889Phe)
c.1891A>T (p.Ile631Phe)
c.1858A>T (p.Ile620Phe)
n.2892A>T
c.2071A>T (p.Ile691Phe)
n.2886A>T
Xg.53248127T>CCA413156851IQSEC2c.2728A>G (p.Ile910Val)
c.521A>G
c.30A>G
c.2569A>G (p.Ile857Val)
n.320A>G
c.2539A>G (p.Ile847Val)
c.1954A>G (p.Ile652Val)
c.2665A>G (p.Ile889Val)
c.1891A>G (p.Ile631Val)
c.1858A>G (p.Ile620Val)
n.2892A>G
c.2071A>G (p.Ile691Val)
n.2886A>G
Xg.53248127T>GCA413156853IQSEC2c.2728A>C (p.Ile910Leu)
c.521A>C
c.30A>C
c.2569A>C (p.Ile857Leu)
n.320A>C
c.2539A>C (p.Ile847Leu)
c.1954A>C (p.Ile652Leu)
c.2665A>C (p.Ile889Leu)
c.1891A>C (p.Ile631Leu)
c.1858A>C (p.Ile620Leu)
n.2892A>C
c.2071A>C (p.Ile691Leu)
n.2886A>C
Xg.53248128G>ACA516428080IQSEC2c.2727C>T (p.Leu909=)
c.520C>T
c.29C>T
c.2568C>T (p.Leu856=)
n.319C>T
c.2538C>T (p.Leu846=)
c.1953C>T (p.Leu651=)
c.2664C>T (p.Leu888=)
c.1890C>T (p.Leu630=)
c.1857C>T (p.Leu619=)
n.2891C>T
c.2070C>T (p.Leu690=)
n.2885C>T
Xg.53248128G>CCA516428078IQSEC2c.2727C>G (p.Leu909=)
c.520C>G
c.29C>G
c.2568C>G (p.Leu856=)
n.319C>G
c.2538C>G (p.Leu846=)
c.1953C>G (p.Leu651=)
c.2664C>G (p.Leu888=)
c.1890C>G (p.Leu630=)
c.1857C>G (p.Leu619=)
n.2891C>G
c.2070C>G (p.Leu690=)
n.2885C>G
Xg.53248128G>TCA516428079IQSEC2c.2727C>A (p.Leu909=)
c.520C>A
c.29C>A
c.2568C>A (p.Leu856=)
n.319C>A
c.2538C>A (p.Leu846=)
c.1953C>A (p.Leu651=)
c.2664C>A (p.Leu888=)
c.1890C>A (p.Leu630=)
c.1857C>A (p.Leu619=)
n.2891C>A
c.2070C>A (p.Leu690=)
n.2885C>A
Xg.53248129A>CCA413156858IQSEC2c.2726T>G (p.Leu909Arg)
c.519T>G
c.28T>G
c.2567T>G (p.Leu856Arg)
n.318T>G
c.2537T>G (p.Leu846Arg)
c.1952T>G (p.Leu651Arg)
c.2663T>G (p.Leu888Arg)
c.1889T>G (p.Leu630Arg)
c.1856T>G (p.Leu619Arg)
n.2890T>G
c.2069T>G (p.Leu690Arg)
n.2884T>G
Xg.53248129A>GCA413156863IQSEC2c.2726T>C (p.Leu909Pro)
c.519T>C
c.28T>C
c.2567T>C (p.Leu856Pro)
n.318T>C
c.2537T>C (p.Leu846Pro)
c.1952T>C (p.Leu651Pro)
c.2663T>C (p.Leu888Pro)
c.1889T>C (p.Leu630Pro)
c.1856T>C (p.Leu619Pro)
n.2890T>C
c.2069T>C (p.Leu690Pro)
n.2884T>C
Xg.53248129A>TCA413156860IQSEC2c.2726T>A (p.Leu909His)
c.519T>A
c.28T>A
c.2567T>A (p.Leu856His)
n.318T>A
c.2537T>A (p.Leu846His)
c.1952T>A (p.Leu651His)
c.2663T>A (p.Leu888His)
c.1889T>A (p.Leu630His)
c.1856T>A (p.Leu619His)
n.2890T>A
c.2069T>A (p.Leu690His)
n.2884T>A
Xg.53248130G>ACA413156866IQSEC2c.2725C>T (p.Leu909Phe)
c.518C>T
c.27C>T
c.2566C>T (p.Leu856Phe)
n.317C>T
c.2536C>T (p.Leu846Phe)
c.1951C>T (p.Leu651Phe)
c.2662C>T (p.Leu888Phe)
c.1888C>T (p.Leu630Phe)
c.1855C>T (p.Leu619Phe)
n.2889C>T
c.2068C>T (p.Leu690Phe)
n.2883C>T
Xg.53248130G>CCA413156870IQSEC2c.2725C>G (p.Leu909Val)
c.518C>G
c.27C>G
c.2566C>G (p.Leu856Val)
n.317C>G
c.2536C>G (p.Leu846Val)
c.1951C>G (p.Leu651Val)
c.2662C>G (p.Leu888Val)
c.1888C>G (p.Leu630Val)
c.1855C>G (p.Leu619Val)
n.2889C>G
c.2068C>G (p.Leu690Val)
n.2883C>G
Xg.53248130G>TCA413156868IQSEC2c.2725C>A (p.Leu909Ile)
c.518C>A
c.27C>A
c.2566C>A (p.Leu856Ile)
n.317C>A
c.2536C>A (p.Leu846Ile)
c.1951C>A (p.Leu651Ile)
c.2662C>A (p.Leu888Ile)
c.1888C>A (p.Leu630Ile)
c.1855C>A (p.Leu619Ile)
n.2889C>A
c.2068C>A (p.Leu690Ile)
n.2883C>A
 COSMIC COSMIC COSMIC
Xg.53248131T>ACA516428084IQSEC2c.2724A>T (p.Arg908=)
c.517A>T
c.26A>T
c.2565A>T (p.Arg855=)
n.316A>T
c.2535A>T (p.Arg845=)
c.1950A>T (p.Arg650=)
c.2661A>T (p.Arg887=)
c.1887A>T (p.Arg629=)
c.1854A>T (p.Arg618=)
n.2888A>T
c.2067A>T (p.Arg689=)
n.2882A>T
Xg.53248131T>CCA516428085IQSEC2c.2724A>G (p.Arg908=)
c.517A>G
c.26A>G
c.2565A>G (p.Arg855=)
n.316A>G
c.2535A>G (p.Arg845=)
c.1950A>G (p.Arg650=)
c.2661A>G (p.Arg887=)
c.1887A>G (p.Arg629=)
c.1854A>G (p.Arg618=)
n.2888A>G
c.2067A>G (p.Arg689=)
n.2882A>G
Xg.53248131T>GCA516428086IQSEC2c.2724A>C (p.Arg908=)
c.517A>C
c.26A>C
c.2565A>C (p.Arg855=)
n.316A>C
c.2535A>C (p.Arg845=)
c.1950A>C (p.Arg650=)
c.2661A>C (p.Arg887=)
c.1887A>C (p.Arg629=)
c.1854A>C (p.Arg618=)
n.2888A>C
c.2067A>C (p.Arg689=)
n.2882A>C
 dbSNP gnomAD v4
Xg.53248131T=CA2429774918IQSEC2c.2724A= (p.Arg908=)
c.517A=
c.26A=
c.2565A= (p.Arg855=)
n.316A=
c.2535A= (p.Arg845=)
c.1950A= (p.Arg650=)
c.2661A= (p.Arg887=)
c.1887A= (p.Arg629=)
c.1854A= (p.Arg618=)
n.2888A=
c.2067A= (p.Arg689=)
n.2882A=
Xg.53248132C>ACA413156872IQSEC2c.2723G>T (p.Arg908Leu)
c.516G>T
c.25G>T
c.2564G>T (p.Arg855Leu)
n.315G>T
c.2534G>T (p.Arg845Leu)
c.1949G>T (p.Arg650Leu)
c.2660G>T (p.Arg887Leu)
c.1886G>T (p.Arg629Leu)
c.1853G>T (p.Arg618Leu)
n.2887G>T
c.2066G>T (p.Arg689Leu)
n.2881G>T
Xg.53248132C=CA2429774919IQSEC2c.2723G= (p.Arg908=)
c.516G=
c.25G=
c.2564G= (p.Arg855=)
n.315G=
c.2534G= (p.Arg845=)
c.1949G= (p.Arg650=)
c.2660G= (p.Arg887=)
c.1886G= (p.Arg629=)
c.1853G= (p.Arg618=)
n.2887G=
c.2066G= (p.Arg689=)
n.2881G=
Xg.53248132C>GCA413156873IQSEC2c.2723G>C (p.Arg908Pro)
c.516G>C
c.25G>C
c.2564G>C (p.Arg855Pro)
n.315G>C
c.2534G>C (p.Arg845Pro)
c.1949G>C (p.Arg650Pro)
c.2660G>C (p.Arg887Pro)
c.1886G>C (p.Arg629Pro)
c.1853G>C (p.Arg618Pro)
n.2887G>C
c.2066G>C (p.Arg689Pro)
n.2881G>C
Xg.53248132C>TCA413156875IQSEC2c.2723G>A (p.Arg908Gln)
c.516G>A
c.25G>A
c.2564G>A (p.Arg855Gln)
n.315G>A
c.2534G>A (p.Arg845Gln)
c.1949G>A (p.Arg650Gln)
c.2660G>A (p.Arg887Gln)
c.1886G>A (p.Arg629Gln)
c.1853G>A (p.Arg618Gln)
n.2887G>A
c.2066G>A (p.Arg689Gln)
n.2881G>A
 dbSNP gnomAD v4
Xg.53248133G>ACA286512IQSEC2c.2722C>T (p.Arg908Ter)
c.515C>T
c.24C>T
c.2563C>T (p.Arg855Ter)
n.314C>T
c.2533C>T (p.Arg845Ter)
c.1948C>T (p.Arg650Ter)
c.2659C>T (p.Arg887Ter)
c.1885C>T (p.Arg629Ter)
c.1852C>T (p.Arg618Ter)
n.2886C>T
c.2065C>T (p.Arg689Ter)
n.2880C>T
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.53248133G>CCA413156878IQSEC2c.2722C>G (p.Arg908Gly)
c.515C>G
c.24C>G
c.2563C>G (p.Arg855Gly)
n.314C>G
c.2533C>G (p.Arg845Gly)
c.1948C>G (p.Arg650Gly)
c.2659C>G (p.Arg887Gly)
c.1885C>G (p.Arg629Gly)
c.1852C>G (p.Arg618Gly)
n.2886C>G
c.2065C>G (p.Arg689Gly)
n.2880C>G
Xg.53248133G=CA2429774920IQSEC2c.2722C= (p.Arg908=)
c.515C=
c.24C=
c.2563C= (p.Arg855=)
n.314C=
c.2533C= (p.Arg845=)
c.1948C= (p.Arg650=)
c.2659C= (p.Arg887=)
c.1885C= (p.Arg629=)
c.1852C= (p.Arg618=)
n.2886C=
c.2065C= (p.Arg689=)
n.2880C=
Xg.53248133G>TCA516428089IQSEC2c.2722C>A (p.Arg908=)
c.515C>A
c.24C>A
c.2563C>A (p.Arg855=)
n.314C>A
c.2533C>A (p.Arg845=)
c.1948C>A (p.Arg650=)
c.2659C>A (p.Arg887=)
c.1885C>A (p.Arg629=)
c.1852C>A (p.Arg618=)
n.2886C>A
c.2065C>A (p.Arg689=)
n.2880C>A
Xg.53248134C>ACA413156879IQSEC2c.2721G>T (p.Glu907Asp)
c.514G>T
c.23G>T
c.2562G>T (p.Glu854Asp)
n.313G>T
c.2532G>T (p.Glu844Asp)
c.1947G>T (p.Glu649Asp)
c.2658G>T (p.Glu886Asp)
c.1884G>T (p.Glu628Asp)
c.1851G>T (p.Glu617Asp)
n.2885G>T
c.2064G>T (p.Glu688Asp)
n.2879G>T
Xg.53248134C=CA2429774921IQSEC2c.2721G= (p.Glu907=)
c.514G=
c.23G=
c.2562G= (p.Glu854=)
n.313G=
c.2532G= (p.Glu844=)
c.1947G= (p.Glu649=)
c.2658G= (p.Glu886=)
c.1884G= (p.Glu628=)
c.1851G= (p.Glu617=)
n.2885G=
c.2064G= (p.Glu688=)
n.2879G=
Xg.53248134C>GCA413156883IQSEC2c.2721G>C (p.Glu907Asp)
c.514G>C
c.23G>C
c.2562G>C (p.Glu854Asp)
n.313G>C
c.2532G>C (p.Glu844Asp)
c.1947G>C (p.Glu649Asp)
c.2658G>C (p.Glu886Asp)
c.1884G>C (p.Glu628Asp)
c.1851G>C (p.Glu617Asp)
n.2885G>C
c.2064G>C (p.Glu688Asp)
n.2879G>C
Xg.53248134C>TCA10419925IQSEC2c.2721G>A (p.Glu907=)
c.514G>A
c.23G>A
c.2562G>A (p.Glu854=)
n.313G>A
c.2532G>A (p.Glu844=)
c.1947G>A (p.Glu649=)
c.2658G>A (p.Glu886=)
c.1884G>A (p.Glu628=)
c.1851G>A (p.Glu617=)
n.2885G>A
c.2064G>A (p.Glu688=)
n.2879G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248135T>ACA413156887IQSEC2c.2720A>T (p.Glu907Val)
c.513A>T
c.22A>T
c.2561A>T (p.Glu854Val)
n.312A>T
c.2531A>T (p.Glu844Val)
c.1946A>T (p.Glu649Val)
c.2657A>T (p.Glu886Val)
c.1883A>T (p.Glu628Val)
c.1850A>T (p.Glu617Val)
n.2884A>T
c.2063A>T (p.Glu688Val)
n.2878A>T
Xg.53248135T>CCA413156889IQSEC2c.2720A>G (p.Glu907Gly)
c.513A>G
c.22A>G
c.2561A>G (p.Glu854Gly)
n.312A>G
c.2531A>G (p.Glu844Gly)
c.1946A>G (p.Glu649Gly)
c.2657A>G (p.Glu886Gly)
c.1883A>G (p.Glu628Gly)
c.1850A>G (p.Glu617Gly)
n.2884A>G
c.2063A>G (p.Glu688Gly)
n.2878A>G
Xg.53248135T>GCA413156891IQSEC2c.2720A>C (p.Glu907Ala)
c.513A>C
c.22A>C
c.2561A>C (p.Glu854Ala)
n.312A>C
c.2531A>C (p.Glu844Ala)
c.1946A>C (p.Glu649Ala)
c.2657A>C (p.Glu886Ala)
c.1883A>C (p.Glu628Ala)
c.1850A>C (p.Glu617Ala)
n.2884A>C
c.2063A>C (p.Glu688Ala)
n.2878A>C
Xg.53248136C>ACA413156897IQSEC2c.2719G>T (p.Glu907Ter)
c.512G>T
c.21G>T
c.2560G>T (p.Glu854Ter)
n.311G>T
c.2530G>T (p.Glu844Ter)
c.1945G>T (p.Glu649Ter)
c.2656G>T (p.Glu886Ter)
c.1882G>T (p.Glu628Ter)
c.1849G>T (p.Glu617Ter)
n.2883G>T
c.2062G>T (p.Glu688Ter)
n.2877G>T
Xg.53248136C>GCA413156895IQSEC2c.2719G>C (p.Glu907Gln)
c.512G>C
c.21G>C
c.2560G>C (p.Glu854Gln)
n.311G>C
c.2530G>C (p.Glu844Gln)
c.1945G>C (p.Glu649Gln)
c.2656G>C (p.Glu886Gln)
c.1882G>C (p.Glu628Gln)
c.1849G>C (p.Glu617Gln)
n.2883G>C
c.2062G>C (p.Glu688Gln)
n.2877G>C
Xg.53248136C>TCA413156893IQSEC2c.2719G>A (p.Glu907Lys)
c.512G>A
c.21G>A
c.2560G>A (p.Glu854Lys)
n.311G>A
c.2530G>A (p.Glu844Lys)
c.1945G>A (p.Glu649Lys)
c.2656G>A (p.Glu886Lys)
c.1882G>A (p.Glu628Lys)
c.1849G>A (p.Glu617Lys)
n.2883G>A
c.2062G>A (p.Glu688Lys)
n.2877G>A
Xg.53248137C>ACA516428095IQSEC2c.2718G>T (p.Val906=)
c.511G>T
c.20G>T
c.2559G>T (p.Val853=)
n.310G>T
c.2529G>T (p.Val843=)
c.1944G>T (p.Val648=)
c.2655G>T (p.Val885=)
c.1881G>T (p.Val627=)
c.1848G>T (p.Val616=)
n.2882G>T
c.2061G>T (p.Val687=)
n.2876G>T
Xg.53248137C>GCA516428096IQSEC2c.2718G>C (p.Val906=)
c.511G>C
c.20G>C
c.2559G>C (p.Val853=)
n.310G>C
c.2529G>C (p.Val843=)
c.1944G>C (p.Val648=)
c.2655G>C (p.Val885=)
c.1881G>C (p.Val627=)
c.1848G>C (p.Val616=)
n.2882G>C
c.2061G>C (p.Val687=)
n.2876G>C
Xg.53248137C>TCA516428097IQSEC2c.2718G>A (p.Val906=)
c.511G>A
c.20G>A
c.2559G>A (p.Val853=)
n.310G>A
c.2529G>A (p.Val843=)
c.1944G>A (p.Val648=)
c.2655G>A (p.Val885=)
c.1881G>A (p.Val627=)
c.1848G>A (p.Val616=)
n.2882G>A
c.2061G>A (p.Val687=)
n.2876G>A
Xg.53248138A>CCA413156900IQSEC2c.2717T>G (p.Val906Gly)
c.510T>G
c.19T>G
c.2558T>G (p.Val853Gly)
n.309T>G
c.2528T>G (p.Val843Gly)
c.1943T>G (p.Val648Gly)
c.2654T>G (p.Val885Gly)
c.1880T>G (p.Val627Gly)
c.1847T>G (p.Val616Gly)
n.2881T>G
c.2060T>G (p.Val687Gly)
n.2875T>G
Xg.53248138A>GCA413156902IQSEC2c.2717T>C (p.Val906Ala)
c.510T>C
c.19T>C
c.2558T>C (p.Val853Ala)
n.309T>C
c.2528T>C (p.Val843Ala)
c.1943T>C (p.Val648Ala)
c.2654T>C (p.Val885Ala)
c.1880T>C (p.Val627Ala)
c.1847T>C (p.Val616Ala)
n.2881T>C
c.2060T>C (p.Val687Ala)
n.2875T>C
Xg.53248138A>TCA413156903IQSEC2c.2717T>A (p.Val906Glu)
c.510T>A
c.19T>A
c.2558T>A (p.Val853Glu)
n.309T>A
c.2528T>A (p.Val843Glu)
c.1943T>A (p.Val648Glu)
c.2654T>A (p.Val885Glu)
c.1880T>A (p.Val627Glu)
c.1847T>A (p.Val616Glu)
n.2881T>A
c.2060T>A (p.Val687Glu)
n.2875T>A
Xg.53248139C>ACA413156905IQSEC2c.2716G>T (p.Val906Leu)
c.509G>T
c.18G>T
c.2557G>T (p.Val853Leu)
n.308G>T
c.2527G>T (p.Val843Leu)
c.1942G>T (p.Val648Leu)
c.2653G>T (p.Val885Leu)
c.1879G>T (p.Val627Leu)
c.1846G>T (p.Val616Leu)
n.2880G>T
c.2059G>T (p.Val687Leu)
n.2874G>T
Xg.53248139C>GCA413156907IQSEC2c.2716G>C (p.Val906Leu)
c.509G>C
c.18G>C
c.2557G>C (p.Val853Leu)
n.308G>C
c.2527G>C (p.Val843Leu)
c.1942G>C (p.Val648Leu)
c.2653G>C (p.Val885Leu)
c.1879G>C (p.Val627Leu)
c.1846G>C (p.Val616Leu)
n.2880G>C
c.2059G>C (p.Val687Leu)
n.2874G>C
Xg.53248139C>TCA413156908IQSEC2c.2716G>A (p.Val906Met)
c.509G>A
c.18G>A
c.2557G>A (p.Val853Met)
n.308G>A
c.2527G>A (p.Val843Met)
c.1942G>A (p.Val648Met)
c.2653G>A (p.Val885Met)
c.1879G>A (p.Val627Met)
c.1846G>A (p.Val616Met)
n.2880G>A
c.2059G>A (p.Val687Met)
n.2874G>A
Xg.53248139_53248140insGCA2499499904IQSEC2c.2715_2716insC (p.Val906ArgfsTer16)
c.508_509insC
c.17_18insC
c.2556_2557insC (p.Val853ArgfsTer16)
n.307_308insC
c.2526_2527insC (p.Val843ArgfsTer16)
c.1941_1942insC (p.Val648ArgfsTer16)
c.2652_2653insC (p.Val885ArgfsTer16)
c.1878_1879insC (p.Val627ArgfsTer16)
c.1845_1846insC (p.Val616ArgfsTer16)
n.2879_2880insC
c.2058_2059insC (p.Val687ArgfsTer16)
n.2873_2874insC
Xg.53248140T>ACA413156910IQSEC2c.2715A>T (p.Lys905Asn)
c.508A>T
c.17A>T
c.2556A>T (p.Lys852Asn)
n.307A>T
c.2526A>T (p.Lys842Asn)
c.1941A>T (p.Lys647Asn)
c.2652A>T (p.Lys884Asn)
c.1878A>T (p.Lys626Asn)
c.1845A>T (p.Lys615Asn)
n.2879A>T
c.2058A>T (p.Lys686Asn)
n.2873A>T
Xg.53248140T>CCA516428104IQSEC2c.2715A>G (p.Lys905=)
c.508A>G
c.17A>G
c.2556A>G (p.Lys852=)
n.307A>G
c.2526A>G (p.Lys842=)
c.1941A>G (p.Lys647=)
c.2652A>G (p.Lys884=)
c.1878A>G (p.Lys626=)
c.1845A>G (p.Lys615=)
n.2879A>G
c.2058A>G (p.Lys686=)
n.2873A>G
Xg.53248140T>GCA413156911IQSEC2c.2715A>C (p.Lys905Asn)
c.508A>C
c.17A>C
c.2556A>C (p.Lys852Asn)
n.307A>C
c.2526A>C (p.Lys842Asn)
c.1941A>C (p.Lys647Asn)
c.2652A>C (p.Lys884Asn)
c.1878A>C (p.Lys626Asn)
c.1845A>C (p.Lys615Asn)
n.2879A>C
c.2058A>C (p.Lys686Asn)
n.2873A>C
Xg.53248141T>ACA413156913IQSEC2c.2714A>T (p.Lys905Ile)
c.507A>T
c.16A>T
c.2555A>T (p.Lys852Ile)
n.306A>T
c.2525A>T (p.Lys842Ile)
c.1940A>T (p.Lys647Ile)
c.2651A>T (p.Lys884Ile)
c.1877A>T (p.Lys626Ile)
c.1844A>T (p.Lys615Ile)
n.2878A>T
c.2057A>T (p.Lys686Ile)
n.2872A>T
Xg.53248141T>CCA413156915IQSEC2c.2714A>G (p.Lys905Arg)
c.507A>G
c.16A>G
c.2555A>G (p.Lys852Arg)
n.306A>G
c.2525A>G (p.Lys842Arg)
c.1940A>G (p.Lys647Arg)
c.2651A>G (p.Lys884Arg)
c.1877A>G (p.Lys626Arg)
c.1844A>G (p.Lys615Arg)
n.2878A>G
c.2057A>G (p.Lys686Arg)
n.2872A>G
Xg.53248141T>GCA413156917IQSEC2c.2714A>C (p.Lys905Thr)
c.507A>C
c.16A>C
c.2555A>C (p.Lys852Thr)
n.306A>C
c.2525A>C (p.Lys842Thr)
c.1940A>C (p.Lys647Thr)
c.2651A>C (p.Lys884Thr)
c.1877A>C (p.Lys626Thr)
c.1844A>C (p.Lys615Thr)
n.2878A>C
c.2057A>C (p.Lys686Thr)
n.2872A>C
Xg.53248141_53248142insAATGGCGATTGTAAAGTAATGTTTGGATTGTTCGTCATAAGAAAACCCTTGCATGAATGCTGTTTTCCCGACACCGGGGTCCCCCAATAGAATTACGTTTGCCTTCTCAGGTGTTCTCAATTGGAGCA2522511244IQSEC2c.2713_2714insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys905ThrfsTer7)
c.506_507insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
c.15_16insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
c.2554_2555insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys852ThrfsTer7)
n.305_306insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
c.2524_2525insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys842ThrfsTer7)
c.1939_1940insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys647ThrfsTer7)
c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys884ThrfsTer7)
c.1876_1877insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys626ThrfsTer7)
c.1843_1844insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys615ThrfsTer7)
n.2877_2878insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
c.2056_2057insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys686ThrfsTer7)
n.2871_2872insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
Xg.53248142T>ACA413156922IQSEC2c.2713A>T (p.Lys905Ter)
c.506A>T
c.15A>T
c.2554A>T (p.Lys852Ter)
n.305A>T
c.2524A>T (p.Lys842Ter)
c.1939A>T (p.Lys647Ter)
c.2650A>T (p.Lys884Ter)
c.1876A>T (p.Lys626Ter)
c.1843A>T (p.Lys615Ter)
n.2877A>T
c.2056A>T (p.Lys686Ter)
n.2871A>T
Xg.53248142T>CCA413156920IQSEC2c.2713A>G (p.Lys905Glu)
c.506A>G
c.15A>G
c.2554A>G (p.Lys852Glu)
n.305A>G
c.2524A>G (p.Lys842Glu)
c.1939A>G (p.Lys647Glu)
c.2650A>G (p.Lys884Glu)
c.1876A>G (p.Lys626Glu)
c.1843A>G (p.Lys615Glu)
n.2877A>G
c.2056A>G (p.Lys686Glu)
n.2871A>G
Xg.53248142T>GCA413156918IQSEC2c.2713A>C (p.Lys905Gln)
c.506A>C
c.15A>C
c.2554A>C (p.Lys852Gln)
n.305A>C
c.2524A>C (p.Lys842Gln)
c.1939A>C (p.Lys647Gln)
c.2650A>C (p.Lys884Gln)
c.1876A>C (p.Lys626Gln)
c.1843A>C (p.Lys615Gln)
n.2877A>C
c.2056A>C (p.Lys686Gln)
n.2871A>C
Xg.53248143C>ACA413156923IQSEC2c.2712G>T (p.Gln904His)
c.505G>T
c.14G>T
c.2553G>T (p.Gln851His)
n.304G>T
c.2523G>T (p.Gln841His)
c.1938G>T (p.Gln646His)
c.2649G>T (p.Gln883His)
c.1875G>T (p.Gln625His)
c.1842G>T (p.Gln614His)
n.2876G>T
c.2055G>T (p.Gln685His)
n.2870G>T
Xg.53248143C>GCA413156925IQSEC2c.2712G>C (p.Gln904His)
c.505G>C
c.14G>C
c.2553G>C (p.Gln851His)
n.304G>C
c.2523G>C (p.Gln841His)
c.1938G>C (p.Gln646His)
c.2649G>C (p.Gln883His)
c.1875G>C (p.Gln625His)
c.1842G>C (p.Gln614His)
n.2876G>C
c.2055G>C (p.Gln685His)
n.2870G>C
Xg.53248143C>TCA516428111IQSEC2c.2712G>A (p.Gln904=)
c.505G>A
c.14G>A
c.2553G>A (p.Gln851=)
n.304G>A
c.2523G>A (p.Gln841=)
c.1938G>A (p.Gln646=)
c.2649G>A (p.Gln883=)
c.1875G>A (p.Gln625=)
c.1842G>A (p.Gln614=)
n.2876G>A
c.2055G>A (p.Gln685=)
n.2870G>A
Xg.53248144T>ACA413156928IQSEC2c.2711A>T (p.Gln904Leu)
c.504A>T
c.13A>T
c.2552A>T (p.Gln851Leu)
n.303A>T
c.2522A>T (p.Gln841Leu)
c.1937A>T (p.Gln646Leu)
c.2648A>T (p.Gln883Leu)
c.1874A>T (p.Gln625Leu)
c.1841A>T (p.Gln614Leu)
n.2875A>T
c.2054A>T (p.Gln685Leu)
n.2869A>T
Xg.53248144T>CCA413156929IQSEC2c.2711A>G (p.Gln904Arg)
c.504A>G
c.13A>G
c.2552A>G (p.Gln851Arg)
n.303A>G
c.2522A>G (p.Gln841Arg)
c.1937A>G (p.Gln646Arg)
c.2648A>G (p.Gln883Arg)
c.1874A>G (p.Gln625Arg)
c.1841A>G (p.Gln614Arg)
n.2875A>G
c.2054A>G (p.Gln685Arg)
n.2869A>G
Xg.53248144T>GCA413156930IQSEC2c.2711A>C (p.Gln904Pro)
c.504A>C
c.13A>C
c.2552A>C (p.Gln851Pro)
n.303A>C
c.2522A>C (p.Gln841Pro)
c.1937A>C (p.Gln646Pro)
c.2648A>C (p.Gln883Pro)
c.1874A>C (p.Gln625Pro)
c.1841A>C (p.Gln614Pro)
n.2875A>C
c.2054A>C (p.Gln685Pro)
n.2869A>C
Xg.53248145G>ACA413156932IQSEC2c.2710C>T (p.Gln904Ter)
c.503C>T
c.12C>T
c.2551C>T (p.Gln851Ter)
n.302C>T
c.2521C>T (p.Gln841Ter)
c.1936C>T (p.Gln646Ter)
c.2647C>T (p.Gln883Ter)
c.1873C>T (p.Gln625Ter)
c.1840C>T (p.Gln614Ter)
n.2874C>T
c.2053C>T (p.Gln685Ter)
n.2868C>T
 ClinVar
Xg.53248145G>CCA413156934IQSEC2c.2710C>G (p.Gln904Glu)
c.503C>G
c.12C>G
c.2551C>G (p.Gln851Glu)
n.302C>G
c.2521C>G (p.Gln841Glu)
c.1936C>G (p.Gln646Glu)
c.2647C>G (p.Gln883Glu)
c.1873C>G (p.Gln625Glu)
c.1840C>G (p.Gln614Glu)
n.2874C>G
c.2053C>G (p.Gln685Glu)
n.2868C>G
Xg.53248145G>TCA413156935IQSEC2c.2710C>A (p.Gln904Lys)
c.503C>A
c.12C>A
c.2551C>A (p.Gln851Lys)
n.302C>A
c.2521C>A (p.Gln841Lys)
c.1936C>A (p.Gln646Lys)
c.2647C>A (p.Gln883Lys)
c.1873C>A (p.Gln625Lys)
c.1840C>A (p.Gln614Lys)
n.2874C>A
c.2053C>A (p.Gln685Lys)
n.2868C>A
 gnomAD v4
Xg.53248146G>ACA516428115IQSEC2c.2709C>T (p.Ala903=)
c.502C>T
c.11C>T
c.2550C>T (p.Ala850=)
n.301C>T
c.2520C>T (p.Ala840=)
c.1935C>T (p.Ala645=)
c.2646C>T (p.Ala882=)
c.1872C>T (p.Ala624=)
c.1839C>T (p.Ala613=)
n.2873C>T
c.2052C>T (p.Ala684=)
n.2867C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.53248146G>CCA516428116IQSEC2c.2709C>G (p.Ala903=)
c.502C>G
c.11C>G
c.2550C>G (p.Ala850=)
n.301C>G
c.2520C>G (p.Ala840=)
c.1935C>G (p.Ala645=)
c.2646C>G (p.Ala882=)
c.1872C>G (p.Ala624=)
c.1839C>G (p.Ala613=)
n.2873C>G
c.2052C>G (p.Ala684=)
n.2867C>G
Xg.53248146G=CA2429774922IQSEC2c.2709C= (p.Ala903=)
c.502C=
c.11C=
c.2550C= (p.Ala850=)
n.301C=
c.2520C= (p.Ala840=)
c.1935C= (p.Ala645=)
c.2646C= (p.Ala882=)
c.1872C= (p.Ala624=)
c.1839C= (p.Ala613=)
n.2873C=
c.2052C= (p.Ala684=)
n.2867C=
Xg.53248146G>TCA516428117IQSEC2c.2709C>A (p.Ala903=)
c.502C>A
c.11C>A
c.2550C>A (p.Ala850=)
n.301C>A
c.2520C>A (p.Ala840=)
c.1935C>A (p.Ala645=)
c.2646C>A (p.Ala882=)
c.1872C>A (p.Ala624=)
c.1839C>A (p.Ala613=)
n.2873C>A
c.2052C>A (p.Ala684=)
n.2867C>A
Xg.53248147G>ACA413156937IQSEC2c.2708C>T (p.Ala903Val)
c.501C>T
c.10C>T
c.2549C>T (p.Ala850Val)
n.300C>T
c.2519C>T (p.Ala840Val)
c.1934C>T (p.Ala645Val)
c.2645C>T (p.Ala882Val)
c.1871C>T (p.Ala624Val)
c.1838C>T (p.Ala613Val)
n.2872C>T
c.2051C>T (p.Ala684Val)
n.2866C>T
Xg.53248147G>CCA413156938IQSEC2c.2708C>G (p.Ala903Gly)
c.501C>G
c.10C>G
c.2549C>G (p.Ala850Gly)
n.300C>G
c.2519C>G (p.Ala840Gly)
c.1934C>G (p.Ala645Gly)
c.2645C>G (p.Ala882Gly)
c.1871C>G (p.Ala624Gly)
c.1838C>G (p.Ala613Gly)
n.2872C>G
c.2051C>G (p.Ala684Gly)
n.2866C>G
Xg.53248147G>TCA413156940IQSEC2c.2708C>A (p.Ala903Asp)
c.501C>A
c.10C>A
c.2549C>A (p.Ala850Asp)
n.300C>A
c.2519C>A (p.Ala840Asp)
c.1934C>A (p.Ala645Asp)
c.2645C>A (p.Ala882Asp)
c.1871C>A (p.Ala624Asp)
c.1838C>A (p.Ala613Asp)
n.2872C>A
c.2051C>A (p.Ala684Asp)
n.2866C>A
Xg.53248148C>ACA413156942IQSEC2c.2707G>T (p.Ala903Ser)
c.500G>T
c.9G>T
c.2548G>T (p.Ala850Ser)
n.299G>T
c.2518G>T (p.Ala840Ser)
c.1933G>T (p.Ala645Ser)
c.2644G>T (p.Ala882Ser)
c.1870G>T (p.Ala624Ser)
c.1837G>T (p.Ala613Ser)
n.2871G>T
c.2050G>T (p.Ala684Ser)
n.2865G>T
Xg.53248148C>GCA413156943IQSEC2c.2707G>C (p.Ala903Pro)
c.500G>C
c.9G>C
c.2548G>C (p.Ala850Pro)
n.299G>C
c.2518G>C (p.Ala840Pro)
c.1933G>C (p.Ala645Pro)
c.2644G>C (p.Ala882Pro)
c.1870G>C (p.Ala624Pro)
c.1837G>C (p.Ala613Pro)
n.2871G>C
c.2050G>C (p.Ala684Pro)
n.2865G>C
Xg.53248148C>TCA413156944IQSEC2c.2707G>A (p.Ala903Thr)
c.500G>A
c.9G>A
c.2548G>A (p.Ala850Thr)
n.299G>A
c.2518G>A (p.Ala840Thr)
c.1933G>A (p.Ala645Thr)
c.2644G>A (p.Ala882Thr)
c.1870G>A (p.Ala624Thr)
c.1837G>A (p.Ala613Thr)
n.2871G>A
c.2050G>A (p.Ala684Thr)
n.2865G>A
 gnomAD v4
Xg.53248149C>ACA413156947IQSEC2c.2706G>T (p.Glu902Asp)
c.499G>T
c.8G>T
c.2547G>T (p.Glu849Asp)
n.298G>T
c.2517G>T (p.Glu839Asp)
c.1932G>T (p.Glu644Asp)
c.2643G>T (p.Glu881Asp)
c.1869G>T (p.Glu623Asp)
c.1836G>T (p.Glu612Asp)
n.2870G>T
c.2049G>T (p.Glu683Asp)
n.2864G>T
Xg.53248149C>GCA413156949IQSEC2c.2706G>C (p.Glu902Asp)
c.499G>C
c.8G>C
c.2547G>C (p.Glu849Asp)
n.298G>C
c.2517G>C (p.Glu839Asp)
c.1932G>C (p.Glu644Asp)
c.2643G>C (p.Glu881Asp)
c.1869G>C (p.Glu623Asp)
c.1836G>C (p.Glu612Asp)
n.2870G>C
c.2049G>C (p.Glu683Asp)
n.2864G>C
Xg.53248149C>TCA516428127IQSEC2c.2706G>A (p.Glu902=)
c.499G>A
c.8G>A
c.2547G>A (p.Glu849=)
n.298G>A
c.2517G>A (p.Glu839=)
c.1932G>A (p.Glu644=)
c.2643G>A (p.Glu881=)
c.1869G>A (p.Glu623=)
c.1836G>A (p.Glu612=)
n.2870G>A
c.2049G>A (p.Glu683=)
n.2864G>A
Xg.53248150T>ACA413156953IQSEC2c.2705A>T (p.Glu902Val)
c.498A>T
c.7A>T
c.2546A>T (p.Glu849Val)
n.297A>T
c.2516A>T (p.Glu839Val)
c.1931A>T (p.Glu644Val)
c.2642A>T (p.Glu881Val)
c.1868A>T (p.Glu623Val)
c.1835A>T (p.Glu612Val)
n.2869A>T
c.2048A>T (p.Glu683Val)
n.2863A>T
Xg.53248150T>CCA413156955IQSEC2c.2705A>G (p.Glu902Gly)
c.498A>G
c.7A>G
c.2546A>G (p.Glu849Gly)
n.297A>G
c.2516A>G (p.Glu839Gly)
c.1931A>G (p.Glu644Gly)
c.2642A>G (p.Glu881Gly)
c.1868A>G (p.Glu623Gly)
c.1835A>G (p.Glu612Gly)
n.2869A>G
c.2048A>G (p.Glu683Gly)
n.2863A>G
Xg.53248150T>GCA413156958IQSEC2c.2705A>C (p.Glu902Ala)
c.498A>C
c.7A>C
c.2546A>C (p.Glu849Ala)
n.297A>C
c.2516A>C (p.Glu839Ala)
c.1931A>C (p.Glu644Ala)
c.2642A>C (p.Glu881Ala)
c.1868A>C (p.Glu623Ala)
c.1835A>C (p.Glu612Ala)
n.2869A>C
c.2048A>C (p.Glu683Ala)
n.2863A>C
Xg.53248151C>ACA413156960IQSEC2c.2704G>T (p.Glu902Ter)
c.497G>T
c.6G>T
c.2545G>T (p.Glu849Ter)
n.296G>T
c.2515G>T (p.Glu839Ter)
c.1930G>T (p.Glu644Ter)
c.2641G>T (p.Glu881Ter)
c.1867G>T (p.Glu623Ter)
c.1834G>T (p.Glu612Ter)
n.2868G>T
c.2047G>T (p.Glu683Ter)
n.2862G>T
Xg.53248151C>GCA413156963IQSEC2c.2704G>C (p.Glu902Gln)
c.497G>C
c.6G>C
c.2545G>C (p.Glu849Gln)
n.296G>C
c.2515G>C (p.Glu839Gln)
c.1930G>C (p.Glu644Gln)
c.2641G>C (p.Glu881Gln)
c.1867G>C (p.Glu623Gln)
c.1834G>C (p.Glu612Gln)
n.2868G>C
c.2047G>C (p.Glu683Gln)
n.2862G>C
Xg.53248151C>TCA413156966IQSEC2c.2704G>A (p.Glu902Lys)
c.497G>A
c.6G>A
c.2545G>A (p.Glu849Lys)
n.296G>A
c.2515G>A (p.Glu839Lys)
c.1930G>A (p.Glu644Lys)
c.2641G>A (p.Glu881Lys)
c.1867G>A (p.Glu623Lys)
c.1834G>A (p.Glu612Lys)
n.2868G>A
c.2047G>A (p.Glu683Lys)
n.2862G>A
Xg.53248152A>CCA516428132IQSEC2c.2703T>G (p.Gly901=)
c.496T>G
c.5T>G
c.2544T>G (p.Gly848=)
n.295T>G
c.2514T>G (p.Gly838=)
c.1929T>G (p.Gly643=)
c.2640T>G (p.Gly880=)
c.1866T>G (p.Gly622=)
c.1833T>G (p.Gly611=)
n.2867T>G
c.2046T>G (p.Gly682=)
n.2861T>G
Xg.53248152A>GCA516428133IQSEC2c.2703T>C (p.Gly901=)
c.496T>C
c.5T>C
c.2544T>C (p.Gly848=)
n.295T>C
c.2514T>C (p.Gly838=)
c.1929T>C (p.Gly643=)
c.2640T>C (p.Gly880=)
c.1866T>C (p.Gly622=)
c.1833T>C (p.Gly611=)
n.2867T>C
c.2046T>C (p.Gly682=)
n.2861T>C
Xg.53248152A>TCA516428135IQSEC2c.2703T>A (p.Gly901=)
c.496T>A
c.5T>A
c.2544T>A (p.Gly848=)
n.295T>A
c.2514T>A (p.Gly838=)
c.1929T>A (p.Gly643=)
c.2640T>A (p.Gly880=)
c.1866T>A (p.Gly622=)
c.1833T>A (p.Gly611=)
n.2867T>A
c.2046T>A (p.Gly682=)
n.2861T>A
Xg.53248153C>ACA413156968IQSEC2c.2702G>T (p.Gly901Val)
c.495G>T
c.4G>T
c.2543G>T (p.Gly848Val)
n.294G>T
c.2513G>T (p.Gly838Val)
c.1928G>T (p.Gly643Val)
c.2639G>T (p.Gly880Val)
c.1865G>T (p.Gly622Val)
c.1832G>T (p.Gly611Val)
n.2866G>T
c.2045G>T (p.Gly682Val)
n.2860G>T
Xg.53248153C>GCA413156970IQSEC2c.2702G>C (p.Gly901Ala)
c.495G>C
c.4G>C
c.2543G>C (p.Gly848Ala)
n.294G>C
c.2513G>C (p.Gly838Ala)
c.1928G>C (p.Gly643Ala)
c.2639G>C (p.Gly880Ala)
c.1865G>C (p.Gly622Ala)
c.1832G>C (p.Gly611Ala)
n.2866G>C
c.2045G>C (p.Gly682Ala)
n.2860G>C
Xg.53248153C>TCA413156972IQSEC2c.2702G>A (p.Gly901Asp)
c.495G>A
c.4G>A
c.2543G>A (p.Gly848Asp)
n.294G>A
c.2513G>A (p.Gly838Asp)
c.1928G>A (p.Gly643Asp)
c.2639G>A (p.Gly880Asp)
c.1865G>A (p.Gly622Asp)
c.1832G>A (p.Gly611Asp)
n.2866G>A
c.2045G>A (p.Gly682Asp)
n.2860G>A
Xg.53248154C>ACA413156975IQSEC2c.2701G>T (p.Gly901Cys)
c.494G>T
c.3G>T
c.2542G>T (p.Gly848Cys)
n.293G>T
c.2512G>T (p.Gly838Cys)
c.1927G>T (p.Gly643Cys)
c.2638G>T (p.Gly880Cys)
c.1864G>T (p.Gly622Cys)
c.1831G>T (p.Gly611Cys)
n.2865G>T
c.2044G>T (p.Gly682Cys)
n.2859G>T
Xg.53248154C>GCA413156978IQSEC2c.2701G>C (p.Gly901Arg)
c.494G>C
c.3G>C
c.2542G>C (p.Gly848Arg)
n.293G>C
c.2512G>C (p.Gly838Arg)
c.1927G>C (p.Gly643Arg)
c.2638G>C (p.Gly880Arg)
c.1864G>C (p.Gly622Arg)
c.1831G>C (p.Gly611Arg)
n.2865G>C
c.2044G>C (p.Gly682Arg)
n.2859G>C
Xg.53248154C>TCA413156980IQSEC2c.2701G>A (p.Gly901Ser)
c.494G>A
c.3G>A
c.2542G>A (p.Gly848Ser)
n.293G>A
c.2512G>A (p.Gly838Ser)
c.1927G>A (p.Gly643Ser)
c.2638G>A (p.Gly880Ser)
c.1864G>A (p.Gly622Ser)
c.1831G>A (p.Gly611Ser)
n.2865G>A
c.2044G>A (p.Gly682Ser)
n.2859G>A
Xg.53248155C>ACA413156982IQSEC2c.2700G>T (p.Gln900His)
c.493G>T
c.2G>T
c.2541G>T (p.Gln847His)
n.292G>T
c.2511G>T (p.Gln837His)
c.1926G>T (p.Gln642His)
c.2637G>T (p.Gln879His)
c.1863G>T (p.Gln621His)
c.1830G>T (p.Gln610His)
n.2864G>T
c.2043G>T (p.Gln681His)
n.2858G>T
Xg.53248155C>GCA413156985IQSEC2c.2700G>C (p.Gln900His)
c.493G>C
c.2G>C
c.2541G>C (p.Gln847His)
n.292G>C
c.2511G>C (p.Gln837His)
c.1926G>C (p.Gln642His)
c.2637G>C (p.Gln879His)
c.1863G>C (p.Gln621His)
c.1830G>C (p.Gln610His)
n.2864G>C
c.2043G>C (p.Gln681His)
n.2858G>C
Xg.53248155C>TCA516428139IQSEC2c.2700G>A (p.Gln900=)
c.493G>A
c.2G>A
c.2541G>A (p.Gln847=)
n.292G>A
c.2511G>A (p.Gln837=)
c.1926G>A (p.Gln642=)
c.2637G>A (p.Gln879=)
c.1863G>A (p.Gln621=)
c.1830G>A (p.Gln610=)
n.2864G>A
c.2043G>A (p.Gln681=)
n.2858G>A
Xg.53248156T>ACA413156988IQSEC2c.2699A>T (p.Gln900Leu)
c.492A>T
c.1A>T
c.2540A>T (p.Gln847Leu)
n.291A>T
c.2510A>T (p.Gln837Leu)
c.1925A>T (p.Gln642Leu)
c.2636A>T (p.Gln879Leu)
c.1862A>T (p.Gln621Leu)
c.1829A>T (p.Gln610Leu)
n.2863A>T
c.2042A>T (p.Gln681Leu)
n.2857A>T
Xg.53248156T>CCA413156992IQSEC2c.2699A>G (p.Gln900Arg)
c.492A>G
c.1A>G
c.2540A>G (p.Gln847Arg)
n.291A>G
c.2510A>G (p.Gln837Arg)
c.1925A>G (p.Gln642Arg)
c.2636A>G (p.Gln879Arg)
c.1862A>G (p.Gln621Arg)
c.1829A>G (p.Gln610Arg)
n.2863A>G
c.2042A>G (p.Gln681Arg)
n.2857A>G
Xg.53248156T>GCA413156991IQSEC2c.2699A>C (p.Gln900Pro)
c.492A>C
c.1A>C
c.2540A>C (p.Gln847Pro)
n.291A>C
c.2510A>C (p.Gln837Pro)
c.1925A>C (p.Gln642Pro)
c.2636A>C (p.Gln879Pro)
c.1862A>C (p.Gln621Pro)
c.1829A>C (p.Gln610Pro)
n.2863A>C
c.2042A>C (p.Gln681Pro)
n.2857A>C
Xg.53248157G>ACA413156995IQSEC2c.2698C>T (p.Gln900Ter)
c.491C>T
c.2539C>T (p.Gln847Ter)
n.290C>T
c.2509C>T (p.Gln837Ter)
c.1924C>T (p.Gln642Ter)
c.2635C>T (p.Gln879Ter)
c.1861C>T (p.Gln621Ter)
c.1828C>T (p.Gln610Ter)
n.2862C>T
c.2041C>T (p.Gln681Ter)
n.2856C>T
 COSMIC
Xg.53248157G>CCA413156999IQSEC2c.2698C>G (p.Gln900Glu)
c.491C>G
c.2539C>G (p.Gln847Glu)
n.290C>G
c.2509C>G (p.Gln837Glu)
c.1924C>G (p.Gln642Glu)
c.2635C>G (p.Gln879Glu)
c.1861C>G (p.Gln621Glu)
c.1828C>G (p.Gln610Glu)
n.2862C>G
c.2041C>G (p.Gln681Glu)
n.2856C>G
Xg.53248157G>TCA413156997IQSEC2c.2698C>A (p.Gln900Lys)
c.491C>A
c.2539C>A (p.Gln847Lys)
n.290C>A
c.2509C>A (p.Gln837Lys)
c.1924C>A (p.Gln642Lys)
c.2635C>A (p.Gln879Lys)
c.1861C>A (p.Gln621Lys)
c.1828C>A (p.Gln610Lys)
n.2862C>A
c.2041C>A (p.Gln681Lys)
n.2856C>A
 ClinVar
Xg.53248158A>CCA516428142IQSEC2c.2697T>G (p.Val899=)
c.490T>G
c.2538T>G (p.Val846=)
n.289T>G
c.2508T>G (p.Val836=)
c.1923T>G (p.Val641=)
c.2634T>G (p.Val878=)
c.1860T>G (p.Val620=)
c.1827T>G (p.Val609=)
n.2861T>G
c.2040T>G (p.Val680=)
n.2855T>G
Xg.53248158A>GCA516428143IQSEC2c.2697T>C (p.Val899=)
c.490T>C
c.2538T>C (p.Val846=)
n.289T>C
c.2508T>C (p.Val836=)
c.1923T>C (p.Val641=)
c.2634T>C (p.Val878=)
c.1860T>C (p.Val620=)
c.1827T>C (p.Val609=)
n.2861T>C
c.2040T>C (p.Val680=)
n.2855T>C
Xg.53248158A>TCA516428144IQSEC2c.2697T>A (p.Val899=)
c.490T>A
c.2538T>A (p.Val846=)
n.289T>A
c.2508T>A (p.Val836=)
c.1923T>A (p.Val641=)
c.2634T>A (p.Val878=)
c.1860T>A (p.Val620=)
c.1827T>A (p.Val609=)
n.2861T>A
c.2040T>A (p.Val680=)
n.2855T>A
Xg.53248159A>CCA413157003IQSEC2c.2696T>G (p.Val899Gly)
c.489T>G
c.2537T>G (p.Val846Gly)
n.288T>G
c.2507T>G (p.Val836Gly)
c.1922T>G (p.Val641Gly)
c.2633T>G (p.Val878Gly)
c.1859T>G (p.Val620Gly)
c.1826T>G (p.Val609Gly)
n.2860T>G
c.2039T>G (p.Val680Gly)
n.2854T>G
Xg.53248159A>GCA413157005IQSEC2c.2696T>C (p.Val899Ala)
c.489T>C
c.2537T>C (p.Val846Ala)
n.288T>C
c.2507T>C (p.Val836Ala)
c.1922T>C (p.Val641Ala)
c.2633T>C (p.Val878Ala)
c.1859T>C (p.Val620Ala)
c.1826T>C (p.Val609Ala)
n.2860T>C
c.2039T>C (p.Val680Ala)
n.2854T>C
Xg.53248159A>TCA413157007IQSEC2c.2696T>A (p.Val899Asp)
c.489T>A
c.2537T>A (p.Val846Asp)
n.288T>A
c.2507T>A (p.Val836Asp)
c.1922T>A (p.Val641Asp)
c.2633T>A (p.Val878Asp)
c.1859T>A (p.Val620Asp)
c.1826T>A (p.Val609Asp)
n.2860T>A
c.2039T>A (p.Val680Asp)
n.2854T>A
Xg.53248160C>ACA413157011IQSEC2c.2695G>T (p.Val899Phe)
c.488G>T
c.2536G>T (p.Val846Phe)
n.287G>T
c.2506G>T (p.Val836Phe)
c.1921G>T (p.Val641Phe)
c.2632G>T (p.Val878Phe)
c.1858G>T (p.Val620Phe)
c.1825G>T (p.Val609Phe)
n.2859G>T
c.2038G>T (p.Val680Phe)
n.2853G>T
Xg.53248160C>GCA413157014IQSEC2c.2695G>C (p.Val899Leu)
c.488G>C
c.2536G>C (p.Val846Leu)
n.287G>C
c.2506G>C (p.Val836Leu)
c.1921G>C (p.Val641Leu)
c.2632G>C (p.Val878Leu)
c.1858G>C (p.Val620Leu)
c.1825G>C (p.Val609Leu)
n.2859G>C
c.2038G>C (p.Val680Leu)
n.2853G>C
Xg.53248160C>TCA413157015IQSEC2c.2695G>A (p.Val899Ile)
c.488G>A
c.2536G>A (p.Val846Ile)
n.287G>A
c.2506G>A (p.Val836Ile)
c.1921G>A (p.Val641Ile)
c.2632G>A (p.Val878Ile)
c.1858G>A (p.Val620Ile)
c.1825G>A (p.Val609Ile)
n.2859G>A
c.2038G>A (p.Val680Ile)
n.2853G>A
Xg.53248161C>ACA516428155IQSEC2c.2694G>T (p.Arg898=)
c.487G>T
c.2535G>T (p.Arg845=)
n.286G>T
c.2505G>T (p.Arg835=)
c.1920G>T (p.Arg640=)
c.2631G>T (p.Arg877=)
c.1857G>T (p.Arg619=)
c.1824G>T (p.Arg608=)
n.2858G>T
c.2037G>T (p.Arg679=)
n.2852G>T
Xg.53248161C>GCA516428156IQSEC2c.2694G>C (p.Arg898=)
c.487G>C
c.2535G>C (p.Arg845=)
n.286G>C
c.2505G>C (p.Arg835=)
c.1920G>C (p.Arg640=)
c.2631G>C (p.Arg877=)
c.1857G>C (p.Arg619=)
c.1824G>C (p.Arg608=)
n.2858G>C
c.2037G>C (p.Arg679=)
n.2852G>C
 gnomAD v4
Xg.53248161C>TCA516428158IQSEC2c.2694G>A (p.Arg898=)
c.487G>A
c.2535G>A (p.Arg845=)
n.286G>A
c.2505G>A (p.Arg835=)
c.1920G>A (p.Arg640=)
c.2631G>A (p.Arg877=)
c.1857G>A (p.Arg619=)
c.1824G>A (p.Arg608=)
n.2858G>A
c.2037G>A (p.Arg679=)
n.2852G>A
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53248162C>ACA413157018IQSEC2c.2693G>T (p.Arg898Leu)
c.486G>T
c.2534G>T (p.Arg845Leu)
n.285G>T
c.2504G>T (p.Arg835Leu)
c.1919G>T (p.Arg640Leu)
c.2630G>T (p.Arg877Leu)
c.1856G>T (p.Arg619Leu)
c.1823G>T (p.Arg608Leu)
n.2857G>T
c.2036G>T (p.Arg679Leu)
n.2851G>T
Xg.53248162C=CA2429774923IQSEC2c.2693G= (p.Arg898=)
c.486G=
c.2534G= (p.Arg845=)
n.285G=
c.2504G= (p.Arg835=)
c.1919G= (p.Arg640=)
c.2630G= (p.Arg877=)
c.1856G= (p.Arg619=)
c.1823G= (p.Arg608=)
n.2857G=
c.2036G= (p.Arg679=)
n.2851G=
Xg.53248162C>GCA413157021IQSEC2c.2693G>C (p.Arg898Pro)
c.486G>C
c.2534G>C (p.Arg845Pro)
n.285G>C
c.2504G>C (p.Arg835Pro)
c.1919G>C (p.Arg640Pro)
c.2630G>C (p.Arg877Pro)
c.1856G>C (p.Arg619Pro)
c.1823G>C (p.Arg608Pro)
n.2857G>C
c.2036G>C (p.Arg679Pro)
n.2851G>C
Xg.53248162C>TCA413157024IQSEC2c.2693G>A (p.Arg898Gln)
c.486G>A
c.2534G>A (p.Arg845Gln)
n.285G>A
c.2504G>A (p.Arg835Gln)
c.1919G>A (p.Arg640Gln)
c.2630G>A (p.Arg877Gln)
c.1856G>A (p.Arg619Gln)
c.1823G>A (p.Arg608Gln)
n.2857G>A
c.2036G>A (p.Arg679Gln)
n.2851G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248163G>ACA413157026IQSEC2c.2692C>T (p.Arg898Trp)
c.485C>T
c.2533C>T (p.Arg845Trp)
n.284C>T
c.2503C>T (p.Arg835Trp)
c.1918C>T (p.Arg640Trp)
c.2629C>T (p.Arg877Trp)
c.1855C>T (p.Arg619Trp)
c.1822C>T (p.Arg608Trp)
n.2856C>T
c.2035C>T (p.Arg679Trp)
n.2850C>T
 ClinVar
Xg.53248163G>CCA413157028IQSEC2c.2692C>G (p.Arg898Gly)
c.485C>G
c.2533C>G (p.Arg845Gly)
n.284C>G
c.2503C>G (p.Arg835Gly)
c.1918C>G (p.Arg640Gly)
c.2629C>G (p.Arg877Gly)
c.1855C>G (p.Arg619Gly)
c.1822C>G (p.Arg608Gly)
n.2856C>G
c.2035C>G (p.Arg679Gly)
n.2850C>G
Xg.53248163G>TCA516428165IQSEC2c.2692C>A (p.Arg898=)
c.485C>A
c.2533C>A (p.Arg845=)
n.284C>A
c.2503C>A (p.Arg835=)
c.1918C>A (p.Arg640=)
c.2629C>A (p.Arg877=)
c.1855C>A (p.Arg619=)
c.1822C>A (p.Arg608=)
n.2856C>A
c.2035C>A (p.Arg679=)
n.2850C>A
Xg.53248164G>ACA516428168IQSEC2c.2691C>T (p.Ile897=)
c.484C>T
c.2532C>T (p.Ile844=)
n.283C>T
c.2502C>T (p.Ile834=)
c.1917C>T (p.Ile639=)
c.2628C>T (p.Ile876=)
c.1854C>T (p.Ile618=)
c.1821C>T (p.Ile607=)
n.2855C>T
c.2034C>T (p.Ile678=)
n.2849C>T
Xg.53248164G>CCA413157032IQSEC2c.2691C>G (p.Ile897Met)
c.484C>G
c.2532C>G (p.Ile844Met)
n.283C>G
c.2502C>G (p.Ile834Met)
c.1917C>G (p.Ile639Met)
c.2628C>G (p.Ile876Met)
c.1854C>G (p.Ile618Met)
c.1821C>G (p.Ile607Met)
n.2855C>G
c.2034C>G (p.Ile678Met)
n.2849C>G
Xg.53248164G>TCA516428169IQSEC2c.2691C>A (p.Ile897=)
c.484C>A
c.2532C>A (p.Ile844=)
n.283C>A
c.2502C>A (p.Ile834=)
c.1917C>A (p.Ile639=)
c.2628C>A (p.Ile876=)
c.1854C>A (p.Ile618=)
c.1821C>A (p.Ile607=)
n.2855C>A
c.2034C>A (p.Ile678=)
n.2849C>A
Xg.53248165A>CCA413157036IQSEC2c.2690T>G (p.Ile897Ser)
c.483T>G
c.2531T>G (p.Ile844Ser)
n.282T>G
c.2501T>G (p.Ile834Ser)
c.1916T>G (p.Ile639Ser)
c.2627T>G (p.Ile876Ser)
c.1853T>G (p.Ile618Ser)
c.1820T>G (p.Ile607Ser)
n.2854T>G
c.2033T>G (p.Ile678Ser)
n.2848T>G
Xg.53248165A>GCA413157037IQSEC2c.2690T>C (p.Ile897Thr)
c.483T>C
c.2531T>C (p.Ile844Thr)
n.282T>C
c.2501T>C (p.Ile834Thr)
c.1916T>C (p.Ile639Thr)
c.2627T>C (p.Ile876Thr)
c.1853T>C (p.Ile618Thr)
c.1820T>C (p.Ile607Thr)
n.2854T>C
c.2033T>C (p.Ile678Thr)
n.2848T>C
Xg.53248165A>TCA413157039IQSEC2c.2690T>A (p.Ile897Asn)
c.483T>A
c.2531T>A (p.Ile844Asn)
n.282T>A
c.2501T>A (p.Ile834Asn)
c.1916T>A (p.Ile639Asn)
c.2627T>A (p.Ile876Asn)
c.1853T>A (p.Ile618Asn)
c.1820T>A (p.Ile607Asn)
n.2854T>A
c.2033T>A (p.Ile678Asn)
n.2848T>A
 ClinVar
Xg.53248166T>ACA413157042IQSEC2c.2689A>T (p.Ile897Phe)
c.482A>T
c.2530A>T (p.Ile844Phe)
n.281A>T
c.2500A>T (p.Ile834Phe)
c.1915A>T (p.Ile639Phe)
c.2626A>T (p.Ile876Phe)
c.1852A>T (p.Ile618Phe)
c.1819A>T (p.Ile607Phe)
n.2853A>T
c.2032A>T (p.Ile678Phe)
n.2847A>T
Xg.53248166T>CCA413157044IQSEC2c.2689A>G (p.Ile897Val)
c.482A>G
c.2530A>G (p.Ile844Val)
n.281A>G
c.2500A>G (p.Ile834Val)
c.1915A>G (p.Ile639Val)
c.2626A>G (p.Ile876Val)
c.1852A>G (p.Ile618Val)
c.1819A>G (p.Ile607Val)
n.2853A>G
c.2032A>G (p.Ile678Val)
n.2847A>G
Xg.53248166T>GCA413157047IQSEC2c.2689A>C (p.Ile897Leu)
c.482A>C
c.2530A>C (p.Ile844Leu)
n.281A>C
c.2500A>C (p.Ile834Leu)
c.1915A>C (p.Ile639Leu)
c.2626A>C (p.Ile876Leu)
c.1852A>C (p.Ile618Leu)
c.1819A>C (p.Ile607Leu)
n.2853A>C
c.2032A>C (p.Ile678Leu)
n.2847A>C
Xg.53248167A>CCA413157049IQSEC2c.2688T>G (p.His896Gln)
c.481T>G
c.2529T>G (p.His843Gln)
n.280T>G
c.2499T>G (p.His833Gln)
c.1914T>G (p.His638Gln)
c.2625T>G (p.His875Gln)
c.1851T>G (p.His617Gln)
c.1818T>G (p.His606Gln)
n.2852T>G
c.2031T>G (p.His677Gln)
n.2846T>G
Xg.53248167A>GCA516428175IQSEC2c.2688T>C (p.His896=)
c.481T>C
c.2529T>C (p.His843=)
n.280T>C
c.2499T>C (p.His833=)
c.1914T>C (p.His638=)
c.2625T>C (p.His875=)
c.1851T>C (p.His617=)
c.1818T>C (p.His606=)
n.2852T>C
c.2031T>C (p.His677=)
n.2846T>C
 ClinVar dbSNP
Xg.53248167A>TCA413157050IQSEC2c.2688T>A (p.His896Gln)
c.481T>A
c.2529T>A (p.His843Gln)
n.280T>A
c.2499T>A (p.His833Gln)
c.1914T>A (p.His638Gln)
c.2625T>A (p.His875Gln)
c.1851T>A (p.His617Gln)
c.1818T>A (p.His606Gln)
n.2852T>A
c.2031T>A (p.His677Gln)
n.2846T>A
Xg.53248168T>ACA413157056IQSEC2c.2687A>T (p.His896Leu)
c.480A>T
c.2528A>T (p.His843Leu)
n.279A>T
c.2498A>T (p.His833Leu)
c.1913A>T (p.His638Leu)
c.2624A>T (p.His875Leu)
c.1850A>T (p.His617Leu)
c.1817A>T (p.His606Leu)
n.2851A>T
c.2030A>T (p.His677Leu)
n.2845A>T
Xg.53248168T>CCA413157057IQSEC2c.2687A>G (p.His896Arg)
c.480A>G
c.2528A>G (p.His843Arg)
n.279A>G
c.2498A>G (p.His833Arg)
c.1913A>G (p.His638Arg)
c.2624A>G (p.His875Arg)
c.1850A>G (p.His617Arg)
c.1817A>G (p.His606Arg)
n.2851A>G
c.2030A>G (p.His677Arg)
n.2845A>G
Xg.53248168T>GCA413157059IQSEC2c.2687A>C (p.His896Pro)
c.480A>C
c.2528A>C (p.His843Pro)
n.279A>C
c.2498A>C (p.His833Pro)
c.1913A>C (p.His638Pro)
c.2624A>C (p.His875Pro)
c.1850A>C (p.His617Pro)
c.1817A>C (p.His606Pro)
n.2851A>C
c.2030A>C (p.His677Pro)
n.2845A>C
Xg.53248169G>ACA413157066IQSEC2c.2686C>T (p.His896Tyr)
c.479C>T
c.2527C>T (p.His843Tyr)
n.278C>T
c.2497C>T (p.His833Tyr)
c.1912C>T (p.His638Tyr)
c.2623C>T (p.His875Tyr)
c.1849C>T (p.His617Tyr)
c.1816C>T (p.His606Tyr)
n.2850C>T
c.2029C>T (p.His677Tyr)
n.2844C>T
 gnomAD v4
Xg.53248169G>CCA413157068IQSEC2c.2686C>G (p.His896Asp)
c.479C>G
c.2527C>G (p.His843Asp)
n.278C>G
c.2497C>G (p.His833Asp)
c.1912C>G (p.His638Asp)
c.2623C>G (p.His875Asp)
c.1849C>G (p.His617Asp)
c.1816C>G (p.His606Asp)
n.2850C>G
c.2029C>G (p.His677Asp)
n.2844C>G
Xg.53248169G>TCA413157064IQSEC2c.2686C>A (p.His896Asn)
c.479C>A
c.2527C>A (p.His843Asn)
n.278C>A
c.2497C>A (p.His833Asn)
c.1912C>A (p.His638Asn)
c.2623C>A (p.His875Asn)
c.1849C>A (p.His617Asn)
c.1816C>A (p.His606Asn)
n.2850C>A
c.2029C>A (p.His677Asn)
n.2844C>A
Xg.53248170G>ACA516428179IQSEC2c.2685C>T (p.Ser895=)
c.478C>T
c.2526C>T (p.Ser842=)
n.277C>T
c.2496C>T (p.Ser832=)
c.1911C>T (p.Ser637=)
c.2622C>T (p.Ser874=)
c.1848C>T (p.Ser616=)
c.1815C>T (p.Ser605=)
n.2849C>T
c.2028C>T (p.Ser676=)
n.2843C>T
Xg.53248170G>CCA516428183IQSEC2c.2685C>G (p.Ser895=)
c.478C>G
c.2526C>G (p.Ser842=)
n.277C>G
c.2496C>G (p.Ser832=)
c.1911C>G (p.Ser637=)
c.2622C>G (p.Ser874=)
c.1848C>G (p.Ser616=)
c.1815C>G (p.Ser605=)
n.2849C>G
c.2028C>G (p.Ser676=)
n.2843C>G
Xg.53248170G>TCA516428187IQSEC2c.2685C>A (p.Ser895=)
c.478C>A
c.2526C>A (p.Ser842=)
n.277C>A
c.2496C>A (p.Ser832=)
c.1911C>A (p.Ser637=)
c.2622C>A (p.Ser874=)
c.1848C>A (p.Ser616=)
c.1815C>A (p.Ser605=)
n.2849C>A
c.2028C>A (p.Ser676=)
n.2843C>A
Xg.53248171G>ACA413157073IQSEC2c.2684C>T (p.Ser895Phe)
c.477C>T
c.2525C>T (p.Ser842Phe)
n.276C>T
c.2495C>T (p.Ser832Phe)
c.1910C>T (p.Ser637Phe)
c.2621C>T (p.Ser874Phe)
c.1847C>T (p.Ser616Phe)
c.1814C>T (p.Ser605Phe)
n.2848C>T
c.2027C>T (p.Ser676Phe)
n.2842C>T
Xg.53248171G>CCA413157074IQSEC2c.2684C>G (p.Ser895Cys)
c.477C>G
c.2525C>G (p.Ser842Cys)
n.276C>G
c.2495C>G (p.Ser832Cys)
c.1910C>G (p.Ser637Cys)
c.2621C>G (p.Ser874Cys)
c.1847C>G (p.Ser616Cys)
c.1814C>G (p.Ser605Cys)
n.2848C>G
c.2027C>G (p.Ser676Cys)
n.2842C>G
 ClinVar dbSNP
Xg.53248171G=CA2429774924IQSEC2c.2684C= (p.Ser895=)
c.477C=
c.2525C= (p.Ser842=)
n.276C=
c.2495C= (p.Ser832=)
c.1910C= (p.Ser637=)
c.2621C= (p.Ser874=)
c.1847C= (p.Ser616=)
c.1814C= (p.Ser605=)
n.2848C=
c.2027C= (p.Ser676=)
n.2842C=
Xg.53248171G>TCA413157075IQSEC2c.2684C>A (p.Ser895Tyr)
c.477C>A
c.2525C>A (p.Ser842Tyr)
n.276C>A
c.2495C>A (p.Ser832Tyr)
c.1910C>A (p.Ser637Tyr)
c.2621C>A (p.Ser874Tyr)
c.1847C>A (p.Ser616Tyr)
c.1814C>A (p.Ser605Tyr)
n.2848C>A
c.2027C>A (p.Ser676Tyr)
n.2842C>A
Xg.53248172A>CCA413157077IQSEC2c.2683T>G (p.Ser895Ala)
c.476T>G
c.2524T>G (p.Ser842Ala)
n.275T>G
c.2494T>G (p.Ser832Ala)
c.1909T>G (p.Ser637Ala)
c.2620T>G (p.Ser874Ala)
c.1846T>G (p.Ser616Ala)
c.1813T>G (p.Ser605Ala)
n.2847T>G
c.2026T>G (p.Ser676Ala)
n.2841T>G
Xg.53248172A>GCA413157080IQSEC2c.2683T>C (p.Ser895Pro)
c.476T>C
c.2524T>C (p.Ser842Pro)
n.275T>C
c.2494T>C (p.Ser832Pro)
c.1909T>C (p.Ser637Pro)
c.2620T>C (p.Ser874Pro)
c.1846T>C (p.Ser616Pro)
c.1813T>C (p.Ser605Pro)
n.2847T>C
c.2026T>C (p.Ser676Pro)
n.2841T>C
Xg.53248172A>TCA413157082IQSEC2c.2683T>A (p.Ser895Thr)
c.476T>A
c.2524T>A (p.Ser842Thr)
n.275T>A
c.2494T>A (p.Ser832Thr)
c.1909T>A (p.Ser637Thr)
c.2620T>A (p.Ser874Thr)
c.1846T>A (p.Ser616Thr)
c.1813T>A (p.Ser605Thr)
n.2847T>A
c.2026T>A (p.Ser676Thr)
n.2841T>A
Xg.53248173C>ACA413157086IQSEC2c.2682G>T (p.Gln894His)
c.475G>T
c.2523G>T (p.Gln841His)
n.274G>T
c.2493G>T (p.Gln831His)
c.1908G>T (p.Gln636His)
c.2619G>T (p.Gln873His)
c.1845G>T (p.Gln615His)
c.1812G>T (p.Gln604His)
n.2846G>T
c.2025G>T (p.Gln675His)
n.2840G>T
Xg.53248173C>GCA413157087IQSEC2c.2682G>C (p.Gln894His)
c.475G>C
c.2523G>C (p.Gln841His)
n.274G>C
c.2493G>C (p.Gln831His)
c.1908G>C (p.Gln636His)
c.2619G>C (p.Gln873His)
c.1845G>C (p.Gln615His)
c.1812G>C (p.Gln604His)
n.2846G>C
c.2025G>C (p.Gln675His)
n.2840G>C
Xg.53248173C>TCA516428197IQSEC2c.2682G>A (p.Gln894=)
c.475G>A
c.2523G>A (p.Gln841=)
n.274G>A
c.2493G>A (p.Gln831=)
c.1908G>A (p.Gln636=)
c.2619G>A (p.Gln873=)
c.1845G>A (p.Gln615=)
c.1812G>A (p.Gln604=)
n.2846G>A
c.2025G>A (p.Gln675=)
n.2840G>A
Xg.53248174T>ACA413157089IQSEC2c.2681A>T (p.Gln894Leu)
c.474A>T
c.2522A>T (p.Gln841Leu)
n.273A>T
c.2492A>T (p.Gln831Leu)
c.1907A>T (p.Gln636Leu)
c.2618A>T (p.Gln873Leu)
c.1844A>T (p.Gln615Leu)
c.1811A>T (p.Gln604Leu)
n.2845A>T
c.2024A>T (p.Gln675Leu)
n.2839A>T
Xg.53248174T>CCA413157092IQSEC2c.2681A>G (p.Gln894Arg)
c.474A>G
c.2522A>G (p.Gln841Arg)
n.273A>G
c.2492A>G (p.Gln831Arg)
c.1907A>G (p.Gln636Arg)
c.2618A>G (p.Gln873Arg)
c.1844A>G (p.Gln615Arg)
c.1811A>G (p.Gln604Arg)
n.2845A>G
c.2024A>G (p.Gln675Arg)
n.2839A>G
Xg.53248174T>GCA413157095IQSEC2c.2681A>C (p.Gln894Pro)
c.474A>C
c.2522A>C (p.Gln841Pro)
n.273A>C
c.2492A>C (p.Gln831Pro)
c.1907A>C (p.Gln636Pro)
c.2618A>C (p.Gln873Pro)
c.1844A>C (p.Gln615Pro)
c.1811A>C (p.Gln604Pro)
n.2845A>C
c.2024A>C (p.Gln675Pro)
n.2839A>C
Xg.53248175G>ACA413157102IQSEC2c.2680C>T (p.Gln894Ter)
c.473C>T
c.2521C>T (p.Gln841Ter)
n.272C>T
c.2491C>T (p.Gln831Ter)
c.1906C>T (p.Gln636Ter)
c.2617C>T (p.Gln873Ter)
c.1843C>T (p.Gln615Ter)
c.1810C>T (p.Gln604Ter)
n.2844C>T
c.2023C>T (p.Gln675Ter)
n.2838C>T
Xg.53248175G>CCA413157105IQSEC2c.2680C>G (p.Gln894Glu)
c.473C>G
c.2521C>G (p.Gln841Glu)
n.272C>G
c.2491C>G (p.Gln831Glu)
c.1906C>G (p.Gln636Glu)
c.2617C>G (p.Gln873Glu)
c.1843C>G (p.Gln615Glu)
c.1810C>G (p.Gln604Glu)
n.2844C>G
c.2023C>G (p.Gln675Glu)
n.2838C>G
Xg.53248175G>TCA413157099IQSEC2c.2680C>A (p.Gln894Lys)
c.473C>A
c.2521C>A (p.Gln841Lys)
n.272C>A
c.2491C>A (p.Gln831Lys)
c.1906C>A (p.Gln636Lys)
c.2617C>A (p.Gln873Lys)
c.1843C>A (p.Gln615Lys)
c.1810C>A (p.Gln604Lys)
n.2844C>A
c.2023C>A (p.Gln675Lys)
n.2838C>A
Xg.53248176G>ACA516428206IQSEC2c.2679C>T (p.Phe893=)
c.472C>T
c.2520C>T (p.Phe840=)
n.271C>T
c.2490C>T (p.Phe830=)
c.1905C>T (p.Phe635=)
c.2616C>T (p.Phe872=)
c.1842C>T (p.Phe614=)
c.1809C>T (p.Phe603=)
n.2843C>T
c.2022C>T (p.Phe674=)
n.2837C>T
 COSMIC COSMIC COSMIC
Xg.53248176G>CCA413157107IQSEC2c.2679C>G (p.Phe893Leu)
c.472C>G
c.2520C>G (p.Phe840Leu)
n.271C>G
c.2490C>G (p.Phe830Leu)
c.1905C>G (p.Phe635Leu)
c.2616C>G (p.Phe872Leu)
c.1842C>G (p.Phe614Leu)
c.1809C>G (p.Phe603Leu)
n.2843C>G
c.2022C>G (p.Phe674Leu)
n.2837C>G
Xg.53248176G>TCA413157109IQSEC2c.2679C>A (p.Phe893Leu)
c.472C>A
c.2520C>A (p.Phe840Leu)
n.271C>A
c.2490C>A (p.Phe830Leu)
c.1905C>A (p.Phe635Leu)
c.2616C>A (p.Phe872Leu)
c.1842C>A (p.Phe614Leu)
c.1809C>A (p.Phe603Leu)
n.2843C>A
c.2022C>A (p.Phe674Leu)
n.2837C>A
Xg.53248177A=CA2429774925IQSEC2c.2678T= (p.Phe893=)
c.471T=
c.2519T= (p.Phe840=)
n.270T=
c.2489T= (p.Phe830=)
c.1904T= (p.Phe635=)
c.2615T= (p.Phe872=)
c.1841T= (p.Phe614=)
c.1808T= (p.Phe603=)
n.2842T=
c.2021T= (p.Phe674=)
n.2836T=
Xg.53248177A>CCA413157111IQSEC2c.2678T>G (p.Phe893Cys)
c.471T>G
c.2519T>G (p.Phe840Cys)
n.270T>G
c.2489T>G (p.Phe830Cys)
c.1904T>G (p.Phe635Cys)
c.2615T>G (p.Phe872Cys)
c.1841T>G (p.Phe614Cys)
c.1808T>G (p.Phe603Cys)
n.2842T>G
c.2021T>G (p.Phe674Cys)
n.2836T>G
Xg.53248177A>GCA413157113IQSEC2c.2678T>C (p.Phe893Ser)
c.471T>C
c.2519T>C (p.Phe840Ser)
n.270T>C
c.2489T>C (p.Phe830Ser)
c.1904T>C (p.Phe635Ser)
c.2615T>C (p.Phe872Ser)
c.1841T>C (p.Phe614Ser)
c.1808T>C (p.Phe603Ser)
n.2842T>C
c.2021T>C (p.Phe674Ser)
n.2836T>C
 ClinVar dbSNP
Xg.53248177A>TCA413157115IQSEC2c.2678T>A (p.Phe893Tyr)
c.471T>A
c.2519T>A (p.Phe840Tyr)
n.270T>A
c.2489T>A (p.Phe830Tyr)
c.1904T>A (p.Phe635Tyr)
c.2615T>A (p.Phe872Tyr)
c.1841T>A (p.Phe614Tyr)
c.1808T>A (p.Phe603Tyr)
n.2842T>A
c.2021T>A (p.Phe674Tyr)
n.2836T>A
Xg.53248178A>CCA413157123IQSEC2c.2677T>G (p.Phe893Val)
c.470T>G
c.2518T>G (p.Phe840Val)
n.269T>G
c.2488T>G (p.Phe830Val)
c.1903T>G (p.Phe635Val)
c.2614T>G (p.Phe872Val)
c.1840T>G (p.Phe614Val)
c.1807T>G (p.Phe603Val)
n.2841T>G
c.2020T>G (p.Phe674Val)
n.2835T>G
Xg.53248178A>GCA413157117IQSEC2c.2677T>C (p.Phe893Leu)
c.470T>C
c.2518T>C (p.Phe840Leu)
n.269T>C
c.2488T>C (p.Phe830Leu)
c.1903T>C (p.Phe635Leu)
c.2614T>C (p.Phe872Leu)
c.1840T>C (p.Phe614Leu)
c.1807T>C (p.Phe603Leu)
n.2841T>C
c.2020T>C (p.Phe674Leu)
n.2835T>C
Xg.53248178A>TCA413157119IQSEC2c.2677T>A (p.Phe893Ile)
c.470T>A
c.2518T>A (p.Phe840Ile)
n.269T>A
c.2488T>A (p.Phe830Ile)
c.1903T>A (p.Phe635Ile)
c.2614T>A (p.Phe872Ile)
c.1840T>A (p.Phe614Ile)
c.1807T>A (p.Phe603Ile)
n.2841T>A
c.2020T>A (p.Phe674Ile)
n.2835T>A
Xg.53248179C>ACA413157125IQSEC2c.2676G>T (p.Lys892Asn)
c.469G>T
c.2517G>T (p.Lys839Asn)
n.268G>T
c.2487G>T (p.Lys829Asn)
c.1902G>T (p.Lys634Asn)
c.2613G>T (p.Lys871Asn)
c.1839G>T (p.Lys613Asn)
c.1806G>T (p.Lys602Asn)
n.2840G>T
c.2019G>T (p.Lys673Asn)
n.2834G>T
Xg.53248179C=CA2429774926IQSEC2c.2676G= (p.Lys892=)
c.469G=
c.2517G= (p.Lys839=)
n.268G=
c.2487G= (p.Lys829=)
c.1902G= (p.Lys634=)
c.2613G= (p.Lys871=)
c.1839G= (p.Lys613=)
c.1806G= (p.Lys602=)
n.2840G=
c.2019G= (p.Lys673=)
n.2834G=
Xg.53248179C>GCA413157127IQSEC2c.2676G>C (p.Lys892Asn)
c.469G>C
c.2517G>C (p.Lys839Asn)
n.268G>C
c.2487G>C (p.Lys829Asn)
c.1902G>C (p.Lys634Asn)
c.2613G>C (p.Lys871Asn)
c.1839G>C (p.Lys613Asn)
c.1806G>C (p.Lys602Asn)
n.2840G>C
c.2019G>C (p.Lys673Asn)
n.2834G>C
 gnomAD v4
Xg.53248179C>TCA10419926IQSEC2c.2676G>A (p.Lys892=)
c.469G>A
c.2517G>A (p.Lys839=)
n.268G>A
c.2487G>A (p.Lys829=)
c.1902G>A (p.Lys634=)
c.2613G>A (p.Lys871=)
c.1839G>A (p.Lys613=)
c.1806G>A (p.Lys602=)
n.2840G>A
c.2019G>A (p.Lys673=)
n.2834G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248180T>ACA413157134IQSEC2c.2675A>T (p.Lys892Met)
c.468A>T
c.2516A>T (p.Lys839Met)
n.267A>T
c.2486A>T (p.Lys829Met)
c.1901A>T (p.Lys634Met)
c.2612A>T (p.Lys871Met)
c.1838A>T (p.Lys613Met)
c.1805A>T (p.Lys602Met)
n.2839A>T
c.2018A>T (p.Lys673Met)
n.2833A>T
Xg.53248180T>CCA413157135IQSEC2c.2675A>G (p.Lys892Arg)
c.468A>G
c.2516A>G (p.Lys839Arg)
n.267A>G
c.2486A>G (p.Lys829Arg)
c.1901A>G (p.Lys634Arg)
c.2612A>G (p.Lys871Arg)
c.1838A>G (p.Lys613Arg)
c.1805A>G (p.Lys602Arg)
n.2839A>G
c.2018A>G (p.Lys673Arg)
n.2833A>G
Xg.53248180T>GCA413157138IQSEC2c.2675A>C (p.Lys892Thr)
c.468A>C
c.2516A>C (p.Lys839Thr)
n.267A>C
c.2486A>C (p.Lys829Thr)
c.1901A>C (p.Lys634Thr)
c.2612A>C (p.Lys871Thr)
c.1838A>C (p.Lys613Thr)
c.1805A>C (p.Lys602Thr)
n.2839A>C
c.2018A>C (p.Lys673Thr)
n.2833A>C
Xg.53248181T>ACA413157146IQSEC2c.2674A>T (p.Lys892Ter)
c.467A>T
c.2515A>T (p.Lys839Ter)
n.266A>T
c.2485A>T (p.Lys829Ter)
c.1900A>T (p.Lys634Ter)
c.2611A>T (p.Lys871Ter)
c.1837A>T (p.Lys613Ter)
c.1804A>T (p.Lys602Ter)
n.2838A>T
c.2017A>T (p.Lys673Ter)
n.2832A>T
Xg.53248181T>CCA413157149IQSEC2c.2674A>G (p.Lys892Glu)
c.467A>G
c.2515A>G (p.Lys839Glu)
n.266A>G
c.2485A>G (p.Lys829Glu)
c.1900A>G (p.Lys634Glu)
c.2611A>G (p.Lys871Glu)
c.1837A>G (p.Lys613Glu)
c.1804A>G (p.Lys602Glu)
n.2838A>G
c.2017A>G (p.Lys673Glu)
n.2832A>G
Xg.53248181T>GCA413157143IQSEC2c.2674A>C (p.Lys892Gln)
c.467A>C
c.2515A>C (p.Lys839Gln)
n.266A>C
c.2485A>C (p.Lys829Gln)
c.1900A>C (p.Lys634Gln)
c.2611A>C (p.Lys871Gln)
c.1837A>C (p.Lys613Gln)
c.1804A>C (p.Lys602Gln)
n.2838A>C
c.2017A>C (p.Lys673Gln)
n.2832A>C
Xg.53248182C>ACA516428217IQSEC2c.2673G>T (p.Arg891=)
c.466G>T
c.2514G>T (p.Arg838=)
n.265G>T
c.2484G>T (p.Arg828=)
c.1899G>T (p.Arg633=)
c.2610G>T (p.Arg870=)
c.1836G>T (p.Arg612=)
c.1803G>T (p.Arg601=)
n.2837G>T
c.2016G>T (p.Arg672=)
n.2831G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53248182C=CA2429774927IQSEC2c.2673G= (p.Arg891=)
c.466G=
c.2514G= (p.Arg838=)
n.265G=
c.2484G= (p.Arg828=)
c.1899G= (p.Arg633=)
c.2610G= (p.Arg870=)
c.1836G= (p.Arg612=)
c.1803G= (p.Arg601=)
n.2837G=
c.2016G= (p.Arg672=)
n.2831G=
Xg.53248182C>GCA516428219IQSEC2c.2673G>C (p.Arg891=)
c.466G>C
c.2514G>C (p.Arg838=)
n.265G>C
c.2484G>C (p.Arg828=)
c.1899G>C (p.Arg633=)
c.2610G>C (p.Arg870=)
c.1836G>C (p.Arg612=)
c.1803G>C (p.Arg601=)
n.2837G>C
c.2016G>C (p.Arg672=)
n.2831G>C
Xg.53248182C>TCA516428221IQSEC2c.2673G>A (p.Arg891=)
c.466G>A
c.2514G>A (p.Arg838=)
n.265G>A
c.2484G>A (p.Arg828=)
c.1899G>A (p.Arg633=)
c.2610G>A (p.Arg870=)
c.1836G>A (p.Arg612=)
c.1803G>A (p.Arg601=)
n.2837G>A
c.2016G>A (p.Arg672=)
n.2831G>A
Xg.53248183C>ACA413157157IQSEC2c.2672G>T (p.Arg891Leu)
c.465G>T
c.2513G>T (p.Arg838Leu)
n.264G>T
c.2483G>T (p.Arg828Leu)
c.1898G>T (p.Arg633Leu)
c.2609G>T (p.Arg870Leu)
c.1835G>T (p.Arg612Leu)
c.1802G>T (p.Arg601Leu)
n.2836G>T
c.2015G>T (p.Arg672Leu)
n.2830G>T
Xg.53248183C=CA2429774928IQSEC2c.2672G= (p.Arg891=)
c.465G=
c.2513G= (p.Arg838=)
n.264G=
c.2483G= (p.Arg828=)
c.1898G= (p.Arg633=)
c.2609G= (p.Arg870=)
c.1835G= (p.Arg612=)
c.1802G= (p.Arg601=)
n.2836G=
c.2015G= (p.Arg672=)
n.2830G=
Xg.53248183C>GCA413157152IQSEC2c.2672G>C (p.Arg891Pro)
c.465G>C
c.2513G>C (p.Arg838Pro)
n.264G>C
c.2483G>C (p.Arg828Pro)
c.1898G>C (p.Arg633Pro)
c.2609G>C (p.Arg870Pro)
c.1835G>C (p.Arg612Pro)
c.1802G>C (p.Arg601Pro)
n.2836G>C
c.2015G>C (p.Arg672Pro)
n.2830G>C
Xg.53248183C>TCA413157155IQSEC2c.2672G>A (p.Arg891Gln)
c.465G>A
c.2513G>A (p.Arg838Gln)
n.264G>A
c.2483G>A (p.Arg828Gln)
c.1898G>A (p.Arg633Gln)
c.2609G>A (p.Arg870Gln)
c.1835G>A (p.Arg612Gln)
c.1802G>A (p.Arg601Gln)
n.2836G>A
c.2015G>A (p.Arg672Gln)
n.2830G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
Xg.53248184G>ACA413157159IQSEC2c.2671C>T (p.Arg891Trp)
c.464C>T
c.2512C>T (p.Arg838Trp)
n.263C>T
c.2482C>T (p.Arg828Trp)
c.1897C>T (p.Arg633Trp)
c.2608C>T (p.Arg870Trp)
c.1834C>T (p.Arg612Trp)
c.1801C>T (p.Arg601Trp)
n.2835C>T
c.2014C>T (p.Arg672Trp)
n.2829C>T
 dbSNP gnomAD v4
Xg.53248184G>CCA413157162IQSEC2c.2671C>G (p.Arg891Gly)
c.464C>G
c.2512C>G (p.Arg838Gly)
n.263C>G
c.2482C>G (p.Arg828Gly)
c.1897C>G (p.Arg633Gly)
c.2608C>G (p.Arg870Gly)
c.1834C>G (p.Arg612Gly)
c.1801C>G (p.Arg601Gly)
n.2835C>G
c.2014C>G (p.Arg672Gly)
n.2829C>G
Xg.53248184G=CA2429774929IQSEC2c.2671C= (p.Arg891=)
c.464C=
c.2512C= (p.Arg838=)
n.263C=
c.2482C= (p.Arg828=)
c.1897C= (p.Arg633=)
c.2608C= (p.Arg870=)
c.1834C= (p.Arg612=)
c.1801C= (p.Arg601=)
n.2835C=
c.2014C= (p.Arg672=)
n.2829C=
Xg.53248184G>TCA516428222IQSEC2c.2671C>A (p.Arg891=)
c.464C>A
c.2512C>A (p.Arg838=)
n.263C>A
c.2482C>A (p.Arg828=)
c.1897C>A (p.Arg633=)
c.2608C>A (p.Arg870=)
c.1834C>A (p.Arg612=)
c.1801C>A (p.Arg601=)
n.2835C>A
c.2014C>A (p.Arg672=)
n.2829C>A
Xg.53248185G>ACA516428224IQSEC2c.2670C>T (p.Leu890=)
c.463C>T
c.2511C>T (p.Leu837=)
n.262C>T
c.2481C>T (p.Leu827=)
c.1896C>T (p.Leu632=)
c.2607C>T (p.Leu869=)
c.1833C>T (p.Leu611=)
c.1800C>T (p.Leu600=)
n.2834C>T
c.2013C>T (p.Leu671=)
n.2828C>T
Xg.53248185G>CCA516428225IQSEC2c.2670C>G (p.Leu890=)
c.463C>G
c.2511C>G (p.Leu837=)
n.262C>G
c.2481C>G (p.Leu827=)
c.1896C>G (p.Leu632=)
c.2607C>G (p.Leu869=)
c.1833C>G (p.Leu611=)
c.1800C>G (p.Leu600=)
n.2834C>G
c.2013C>G (p.Leu671=)
n.2828C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.53248185G=CA2429774930IQSEC2c.2670C= (p.Leu890=)
c.463C=
c.2511C= (p.Leu837=)
n.262C=
c.2481C= (p.Leu827=)
c.1896C= (p.Leu632=)
c.2607C= (p.Leu869=)
c.1833C= (p.Leu611=)
c.1800C= (p.Leu600=)
n.2834C=
c.2013C= (p.Leu671=)
n.2828C=
Xg.53248185G>TCA516428226IQSEC2c.2670C>A (p.Leu890=)
c.463C>A
c.2511C>A (p.Leu837=)
n.262C>A
c.2481C>A (p.Leu827=)
c.1896C>A (p.Leu632=)
c.2607C>A (p.Leu869=)
c.1833C>A (p.Leu611=)
c.1800C>A (p.Leu600=)
n.2834C>A
c.2013C>A (p.Leu671=)
n.2828C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53248186A>CCA413157165IQSEC2c.2669T>G (p.Leu890Arg)
c.462T>G
c.2510T>G (p.Leu837Arg)
n.261T>G
c.2480T>G (p.Leu827Arg)
c.1895T>G (p.Leu632Arg)
c.2606T>G (p.Leu869Arg)
c.1832T>G (p.Leu611Arg)
c.1799T>G (p.Leu600Arg)
n.2833T>G
c.2012T>G (p.Leu671Arg)
n.2827T>G
Xg.53248186A>GCA413157166IQSEC2c.2669T>C (p.Leu890Pro)
c.462T>C
c.2510T>C (p.Leu837Pro)
n.261T>C
c.2480T>C (p.Leu827Pro)
c.1895T>C (p.Leu632Pro)
c.2606T>C (p.Leu869Pro)
c.1832T>C (p.Leu611Pro)
c.1799T>C (p.Leu600Pro)
n.2833T>C
c.2012T>C (p.Leu671Pro)
n.2827T>C
Xg.53248186A>TCA413157169IQSEC2c.2669T>A (p.Leu890His)
c.462T>A
c.2510T>A (p.Leu837His)
n.261T>A
c.2480T>A (p.Leu827His)
c.1895T>A (p.Leu632His)
c.2606T>A (p.Leu869His)
c.1832T>A (p.Leu611His)
c.1799T>A (p.Leu600His)
n.2833T>A
c.2012T>A (p.Leu671His)
n.2827T>A
Xg.53248187G>ACA413157173IQSEC2c.2668C>T (p.Leu890Phe)
c.461C>T
c.2509C>T (p.Leu837Phe)
n.260C>T
c.2479C>T (p.Leu827Phe)
c.1894C>T (p.Leu632Phe)
c.2605C>T (p.Leu869Phe)
c.1831C>T (p.Leu611Phe)
c.1798C>T (p.Leu600Phe)
n.2832C>T
c.2011C>T (p.Leu671Phe)
n.2826C>T
Xg.53248187G>CCA413157175IQSEC2c.2668C>G (p.Leu890Val)
c.461C>G
c.2509C>G (p.Leu837Val)
n.260C>G
c.2479C>G (p.Leu827Val)
c.1894C>G (p.Leu632Val)
c.2605C>G (p.Leu869Val)
c.1831C>G (p.Leu611Val)
c.1798C>G (p.Leu600Val)
n.2832C>G
c.2011C>G (p.Leu671Val)
n.2826C>G
Xg.53248187G>TCA413157178IQSEC2c.2668C>A (p.Leu890Ile)
c.461C>A
c.2509C>A (p.Leu837Ile)
n.260C>A
c.2479C>A (p.Leu827Ile)
c.1894C>A (p.Leu632Ile)
c.2605C>A (p.Leu869Ile)
c.1831C>A (p.Leu611Ile)
c.1798C>A (p.Leu600Ile)
n.2832C>A
c.2011C>A (p.Leu671Ile)
n.2826C>A
Xg.53248188C>ACA516428232IQSEC2c.2667G>T (p.Ala889=)
c.460G>T
c.2508G>T (p.Ala836=)
n.259G>T
c.2478G>T (p.Ala826=)
c.1893G>T (p.Ala631=)
c.2604G>T (p.Ala868=)
c.1830G>T (p.Ala610=)
c.1797G>T (p.Ala599=)
n.2831G>T
c.2010G>T (p.Ala670=)
n.2825G>T
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.53248188C=CA2429774931IQSEC2c.2667G= (p.Ala889=)
c.460G=
c.2508G= (p.Ala836=)
n.259G=
c.2478G= (p.Ala826=)
c.1893G= (p.Ala631=)
c.2604G= (p.Ala868=)
c.1830G= (p.Ala610=)
c.1797G= (p.Ala599=)
n.2831G=
c.2010G= (p.Ala670=)
n.2825G=
Xg.53248188C>GCA10419928IQSEC2c.2667G>C (p.Ala889=)
c.460G>C
c.2508G>C (p.Ala836=)
n.259G>C
c.2478G>C (p.Ala826=)
c.1893G>C (p.Ala631=)
c.2604G>C (p.Ala868=)
c.1830G>C (p.Ala610=)
c.1797G>C (p.Ala599=)
n.2831G>C
c.2010G>C (p.Ala670=)
n.2825G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53248188C>TCA10419927IQSEC2c.2667G>A (p.Ala889=)
c.460G>A
c.2508G>A (p.Ala836=)
n.259G>A
c.2478G>A (p.Ala826=)
c.1893G>A (p.Ala631=)
c.2604G>A (p.Ala868=)
c.1830G>A (p.Ala610=)
c.1797G>A (p.Ala599=)
n.2831G>A
c.2010G>A (p.Ala670=)
n.2825G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248189G>ACA10419929IQSEC2c.2666C>T (p.Ala889Val)
c.459C>T
c.2507C>T (p.Ala836Val)
n.258C>T
c.2477C>T (p.Ala826Val)
c.1892C>T (p.Ala631Val)
c.2603C>T (p.Ala868Val)
c.1829C>T (p.Ala610Val)
c.1796C>T (p.Ala599Val)
n.2830C>T
c.2009C>T (p.Ala670Val)
n.2824C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53248189G>CCA413157186IQSEC2c.2666C>G (p.Ala889Gly)
c.459C>G
c.2507C>G (p.Ala836Gly)
n.258C>G
c.2477C>G (p.Ala826Gly)
c.1892C>G (p.Ala631Gly)
c.2603C>G (p.Ala868Gly)
c.1829C>G (p.Ala610Gly)
c.1796C>G (p.Ala599Gly)
n.2830C>G
c.2009C>G (p.Ala670Gly)
n.2824C>G
Xg.53248189G=CA2429774932IQSEC2c.2666C= (p.Ala889=)
c.459C=
c.2507C= (p.Ala836=)
n.258C=
c.2477C= (p.Ala826=)
c.1892C= (p.Ala631=)
c.2603C= (p.Ala868=)
c.1829C= (p.Ala610=)
c.1796C= (p.Ala599=)
n.2830C=
c.2009C= (p.Ala670=)
n.2824C=
Xg.53248189G>TCA413157183IQSEC2c.2666C>A (p.Ala889Glu)
c.459C>A
c.2507C>A (p.Ala836Glu)
n.258C>A
c.2477C>A (p.Ala826Glu)
c.1892C>A (p.Ala631Glu)
c.2603C>A (p.Ala868Glu)
c.1829C>A (p.Ala610Glu)
c.1796C>A (p.Ala599Glu)
n.2830C>A
c.2009C>A (p.Ala670Glu)
n.2824C>A
Xg.53248190C>ACA413157189IQSEC2c.2665G>T (p.Ala889Ser)
c.458G>T
c.2506G>T (p.Ala836Ser)
n.257G>T
c.2476G>T (p.Ala826Ser)
c.1891G>T (p.Ala631Ser)
c.2602G>T (p.Ala868Ser)
c.1828G>T (p.Ala610Ser)
c.1795G>T (p.Ala599Ser)
n.2829G>T
c.2008G>T (p.Ala670Ser)
n.2823G>T
Xg.53248190C>GCA413157192IQSEC2c.2665G>C (p.Ala889Pro)
c.458G>C
c.2506G>C (p.Ala836Pro)
n.257G>C
c.2476G>C (p.Ala826Pro)
c.1891G>C (p.Ala631Pro)
c.2602G>C (p.Ala868Pro)
c.1828G>C (p.Ala610Pro)
c.1795G>C (p.Ala599Pro)
n.2829G>C
c.2008G>C (p.Ala670Pro)
n.2823G>C
Xg.53248190C>TCA413157194IQSEC2c.2665G>A (p.Ala889Thr)
c.458G>A
c.2506G>A (p.Ala836Thr)
n.257G>A
c.2476G>A (p.Ala826Thr)
c.1891G>A (p.Ala631Thr)
c.2602G>A (p.Ala868Thr)
c.1828G>A (p.Ala610Thr)
c.1795G>A (p.Ala599Thr)
n.2829G>A
c.2008G>A (p.Ala670Thr)
n.2823G>A
Xg.53248191A>CCA413157197IQSEC2c.2664T>G (p.Asp888Glu)
c.457T>G
c.2505T>G (p.Asp835Glu)
n.256T>G
c.2475T>G (p.Asp825Glu)
c.1890T>G (p.Asp630Glu)
c.2601T>G (p.Asp867Glu)
c.1827T>G (p.Asp609Glu)
c.1794T>G (p.Asp598Glu)
n.2828T>G
c.2007T>G (p.Asp669Glu)
n.2822T>G
Xg.53248191A>GCA516428242IQSEC2c.2664T>C (p.Asp888=)
c.457T>C
c.2505T>C (p.Asp835=)
n.256T>C
c.2475T>C (p.Asp825=)
c.1890T>C (p.Asp630=)
c.2601T>C (p.Asp867=)
c.1827T>C (p.Asp609=)
c.1794T>C (p.Asp598=)
n.2828T>C
c.2007T>C (p.Asp669=)
n.2822T>C
Xg.53248191A>TCA413157199IQSEC2c.2664T>A (p.Asp888Glu)
c.457T>A
c.2505T>A (p.Asp835Glu)
n.256T>A
c.2475T>A (p.Asp825Glu)
c.1890T>A (p.Asp630Glu)
c.2601T>A (p.Asp867Glu)
c.1827T>A (p.Asp609Glu)
c.1794T>A (p.Asp598Glu)
n.2828T>A
c.2007T>A (p.Asp669Glu)
n.2822T>A
Xg.53248192T>ACA413157206IQSEC2c.2663A>T (p.Asp888Val)
c.456A>T
c.2504A>T (p.Asp835Val)
n.255A>T
c.2474A>T (p.Asp825Val)
c.1889A>T (p.Asp630Val)
c.2600A>T (p.Asp867Val)
c.1826A>T (p.Asp609Val)
c.1793A>T (p.Asp598Val)
n.2827A>T
c.2006A>T (p.Asp669Val)
n.2821A>T
Xg.53248192T>CCA413157202IQSEC2c.2663A>G (p.Asp888Gly)
c.456A>G
c.2504A>G (p.Asp835Gly)
n.255A>G
c.2474A>G (p.Asp825Gly)
c.1889A>G (p.Asp630Gly)
c.2600A>G (p.Asp867Gly)
c.1826A>G (p.Asp609Gly)
c.1793A>G (p.Asp598Gly)
n.2827A>G
c.2006A>G (p.Asp669Gly)
n.2821A>G
Xg.53248192T>GCA413157204IQSEC2c.2663A>C (p.Asp888Ala)
c.456A>C
c.2504A>C (p.Asp835Ala)
n.255A>C
c.2474A>C (p.Asp825Ala)
c.1889A>C (p.Asp630Ala)
c.2600A>C (p.Asp867Ala)
c.1826A>C (p.Asp609Ala)
c.1793A>C (p.Asp598Ala)
n.2827A>C
c.2006A>C (p.Asp669Ala)
n.2821A>C
Xg.53248193C>ACA413157210IQSEC2c.2662G>T (p.Asp888Tyr)
c.455G>T
c.2503G>T (p.Asp835Tyr)
n.254G>T
c.2473G>T (p.Asp825Tyr)
c.1888G>T (p.Asp630Tyr)
c.2599G>T (p.Asp867Tyr)
c.1825G>T (p.Asp609Tyr)
c.1792G>T (p.Asp598Tyr)
n.2826G>T
c.2005G>T (p.Asp669Tyr)
n.2820G>T
Xg.53248193C>GCA413157211IQSEC2c.2662G>C (p.Asp888His)
c.455G>C
c.2503G>C (p.Asp835His)
n.254G>C
c.2473G>C (p.Asp825His)
c.1888G>C (p.Asp630His)
c.2599G>C (p.Asp867His)
c.1825G>C (p.Asp609His)
c.1792G>C (p.Asp598His)
n.2826G>C
c.2005G>C (p.Asp669His)
n.2820G>C
Xg.53248193C>TCA413157214IQSEC2c.2662G>A (p.Asp888Asn)
c.455G>A
c.2503G>A (p.Asp835Asn)
n.254G>A
c.2473G>A (p.Asp825Asn)
c.1888G>A (p.Asp630Asn)
c.2599G>A (p.Asp867Asn)
c.1825G>A (p.Asp609Asn)
c.1792G>A (p.Asp598Asn)
n.2826G>A
c.2005G>A (p.Asp669Asn)
n.2820G>A
Xg.53248194A>CCA413157216IQSEC2c.2661T>G (p.Asp887Glu)
c.454T>G
c.2502T>G (p.Asp834Glu)
n.253T>G
c.2472T>G (p.Asp824Glu)
c.1887T>G (p.Asp629Glu)
c.2598T>G (p.Asp866Glu)
c.1824T>G (p.Asp608Glu)
c.1791T>G (p.Asp597Glu)
n.2825T>G
c.2004T>G (p.Asp668Glu)
n.2819T>G
Xg.53248194A>GCA516428247IQSEC2c.2661T>C (p.Asp887=)
c.454T>C
c.2502T>C (p.Asp834=)
n.253T>C
c.2472T>C (p.Asp824=)
c.1887T>C (p.Asp629=)
c.2598T>C (p.Asp866=)
c.1824T>C (p.Asp608=)
c.1791T>C (p.Asp597=)
n.2825T>C
c.2004T>C (p.Asp668=)
n.2819T>C
Xg.53248194A>TCA413157219IQSEC2c.2661T>A (p.Asp887Glu)
c.454T>A
c.2502T>A (p.Asp834Glu)
n.253T>A
c.2472T>A (p.Asp824Glu)
c.1887T>A (p.Asp629Glu)
c.2598T>A (p.Asp866Glu)
c.1824T>A (p.Asp608Glu)
c.1791T>A (p.Asp597Glu)
n.2825T>A
c.2004T>A (p.Asp668Glu)
n.2819T>A
Xg.53248195T>ACA329165561IQSEC2c.2660A>T (p.Asp887Val)
c.453A>T
c.2501A>T (p.Asp834Val)
n.252A>T
c.2471A>T (p.Asp824Val)
c.1886A>T (p.Asp629Val)
c.2597A>T (p.Asp866Val)
c.1823A>T (p.Asp608Val)
c.1790A>T (p.Asp597Val)
n.2824A>T
c.2003A>T (p.Asp668Val)
n.2818A>T
 dbSNP gnomAD v4
Xg.53248195T>CCA413157225IQSEC2c.2660A>G (p.Asp887Gly)
c.453A>G
c.2501A>G (p.Asp834Gly)
n.252A>G
c.2471A>G (p.Asp824Gly)
c.1886A>G (p.Asp629Gly)
c.2597A>G (p.Asp866Gly)
c.1823A>G (p.Asp608Gly)
c.1790A>G (p.Asp597Gly)
n.2824A>G
c.2003A>G (p.Asp668Gly)
n.2818A>G
Xg.53248195T>GCA413157223IQSEC2c.2660A>C (p.Asp887Ala)
c.453A>C
c.2501A>C (p.Asp834Ala)
n.252A>C
c.2471A>C (p.Asp824Ala)
c.1886A>C (p.Asp629Ala)
c.2597A>C (p.Asp866Ala)
c.1823A>C (p.Asp608Ala)
c.1790A>C (p.Asp597Ala)
n.2824A>C
c.2003A>C (p.Asp668Ala)
n.2818A>C
Xg.53248195T=CA2429774933IQSEC2c.2660A= (p.Asp887=)
c.453A=
c.2501A= (p.Asp834=)
n.252A=
c.2471A= (p.Asp824=)
c.1886A= (p.Asp629=)
c.2597A= (p.Asp866=)
c.1823A= (p.Asp608=)
c.1790A= (p.Asp597=)
n.2824A=
c.2003A= (p.Asp668=)
n.2818A=
Xg.53248196C>ACA413157229IQSEC2c.2659G>T (p.Asp887Tyr)
c.452G>T
c.2500G>T (p.Asp834Tyr)
n.251G>T
c.2470G>T (p.Asp824Tyr)
c.1885G>T (p.Asp629Tyr)
c.2596G>T (p.Asp866Tyr)
c.1822G>T (p.Asp608Tyr)
c.1789G>T (p.Asp597Tyr)
n.2823G>T
c.2002G>T (p.Asp668Tyr)
n.2817G>T
Xg.53248196C>GCA413157232IQSEC2c.2659G>C (p.Asp887His)
c.452G>C
c.2500G>C (p.Asp834His)
n.251G>C
c.2470G>C (p.Asp824His)
c.1885G>C (p.Asp629His)
c.2596G>C (p.Asp866His)
c.1822G>C (p.Asp608His)
c.1789G>C (p.Asp597His)
n.2823G>C
c.2002G>C (p.Asp668His)
n.2817G>C
Xg.53248196C>TCA413157234IQSEC2c.2659G>A (p.Asp887Asn)
c.452G>A
c.2500G>A (p.Asp834Asn)
n.251G>A
c.2470G>A (p.Asp824Asn)
c.1885G>A (p.Asp629Asn)
c.2596G>A (p.Asp866Asn)
c.1822G>A (p.Asp608Asn)
c.1789G>A (p.Asp597Asn)
n.2823G>A
c.2002G>A (p.Asp668Asn)
n.2817G>A
Xg.53248197C>ACA516428256IQSEC2c.2658G>T (p.Leu886=)
c.451G>T
c.2499G>T (p.Leu833=)
n.250G>T
c.2469G>T (p.Leu823=)
c.1884G>T (p.Leu628=)
c.2595G>T (p.Leu865=)
c.1821G>T (p.Leu607=)
c.1788G>T (p.Leu596=)
n.2822G>T
c.2001G>T (p.Leu667=)
n.2816G>T
Xg.53248197C>GCA516428254IQSEC2c.2658G>C (p.Leu886=)
c.451G>C
c.2499G>C (p.Leu833=)
n.250G>C
c.2469G>C (p.Leu823=)
c.1884G>C (p.Leu628=)
c.2595G>C (p.Leu865=)
c.1821G>C (p.Leu607=)
c.1788G>C (p.Leu596=)
n.2822G>C
c.2001G>C (p.Leu667=)
n.2816G>C
Xg.53248197C>TCA516428253IQSEC2c.2658G>A (p.Leu886=)
c.451G>A
c.2499G>A (p.Leu833=)
n.250G>A
c.2469G>A (p.Leu823=)
c.1884G>A (p.Leu628=)
c.2595G>A (p.Leu865=)
c.1821G>A (p.Leu607=)
c.1788G>A (p.Leu596=)
n.2822G>A
c.2001G>A (p.Leu667=)
n.2816G>A
Xg.53248198A>CCA413157237IQSEC2c.2657T>G (p.Leu886Arg)
c.450T>G
c.2498T>G (p.Leu833Arg)
n.249T>G
c.2468T>G (p.Leu823Arg)
c.1883T>G (p.Leu628Arg)
c.2594T>G (p.Leu865Arg)
c.1820T>G (p.Leu607Arg)
c.1787T>G (p.Leu596Arg)
n.2821T>G
c.2000T>G (p.Leu667Arg)
n.2815T>G
Xg.53248198A>GCA413157238IQSEC2c.2657T>C (p.Leu886Pro)
c.450T>C
c.2498T>C (p.Leu833Pro)
n.249T>C
c.2468T>C (p.Leu823Pro)
c.1883T>C (p.Leu628Pro)
c.2594T>C (p.Leu865Pro)
c.1820T>C (p.Leu607Pro)
c.1787T>C (p.Leu596Pro)
n.2821T>C
c.2000T>C (p.Leu667Pro)
n.2815T>C
Xg.53248198A>TCA413157239IQSEC2c.2657T>A (p.Leu886Gln)
c.450T>A
c.2498T>A (p.Leu833Gln)
n.249T>A
c.2468T>A (p.Leu823Gln)
c.1883T>A (p.Leu628Gln)
c.2594T>A (p.Leu865Gln)
c.1820T>A (p.Leu607Gln)
c.1787T>A (p.Leu596Gln)
n.2821T>A
c.2000T>A (p.Leu667Gln)
n.2815T>A
Xg.53248199G>ACA516428259IQSEC2c.2656C>T (p.Leu886=)
c.449C>T
c.2497C>T (p.Leu833=)
n.248C>T
c.2467C>T (p.Leu823=)
c.1882C>T (p.Leu628=)
c.2593C>T (p.Leu865=)
c.1819C>T (p.Leu607=)
c.1786C>T (p.Leu596=)
n.2820C>T
c.1999C>T (p.Leu667=)
n.2814C>T
Xg.53248199G>CCA413157242IQSEC2c.2656C>G (p.Leu886Val)
c.449C>G
c.2497C>G (p.Leu833Val)
n.248C>G
c.2467C>G (p.Leu823Val)
c.1882C>G (p.Leu628Val)
c.2593C>G (p.Leu865Val)
c.1819C>G (p.Leu607Val)
c.1786C>G (p.Leu596Val)
n.2820C>G
c.1999C>G (p.Leu667Val)
n.2814C>G
Xg.53248199G>TCA413157244IQSEC2c.2656C>A (p.Leu886Met)
c.449C>A
c.2497C>A (p.Leu833Met)
n.248C>A
c.2467C>A (p.Leu823Met)
c.1882C>A (p.Leu628Met)
c.2593C>A (p.Leu865Met)
c.1819C>A (p.Leu607Met)
c.1786C>A (p.Leu596Met)
n.2820C>A
c.1999C>A (p.Leu667Met)
n.2814C>A
Xg.53248200A>CCA413157246IQSEC2c.2655T>G (p.Asp885Glu)
c.448T>G
c.2496T>G (p.Asp832Glu)
n.247T>G
c.2466T>G (p.Asp822Glu)
c.1881T>G (p.Asp627Glu)
c.2592T>G (p.Asp864Glu)
c.1818T>G (p.Asp606Glu)
c.1785T>G (p.Asp595Glu)
n.2819T>G
c.1998T>G (p.Asp666Glu)
n.2813T>G
Xg.53248200A>GCA516428263IQSEC2c.2655T>C (p.Asp885=)
c.448T>C
c.2496T>C (p.Asp832=)
n.247T>C
c.2466T>C (p.Asp822=)
c.1881T>C (p.Asp627=)
c.2592T>C (p.Asp864=)
c.1818T>C (p.Asp606=)
c.1785T>C (p.Asp595=)
n.2819T>C
c.1998T>C (p.Asp666=)
n.2813T>C
Xg.53248200A>TCA413157249IQSEC2c.2655T>A (p.Asp885Glu)
c.448T>A
c.2496T>A (p.Asp832Glu)
n.247T>A
c.2466T>A (p.Asp822Glu)
c.1881T>A (p.Asp627Glu)
c.2592T>A (p.Asp864Glu)
c.1818T>A (p.Asp606Glu)
c.1785T>A (p.Asp595Glu)
n.2819T>A
c.1998T>A (p.Asp666Glu)
n.2813T>A
Xg.53248201T>ACA413157250IQSEC2c.2654A>T (p.Asp885Val)
c.447A>T
c.2495A>T (p.Asp832Val)
n.246A>T
c.2465A>T (p.Asp822Val)
c.1880A>T (p.Asp627Val)
c.2591A>T (p.Asp864Val)
c.1817A>T (p.Asp606Val)
c.1784A>T (p.Asp595Val)
n.2818A>T
c.1997A>T (p.Asp666Val)
n.2812A>T
Xg.53248201T>CCA413157252IQSEC2c.2654A>G (p.Asp885Gly)
c.447A>G
c.2495A>G (p.Asp832Gly)
n.246A>G
c.2465A>G (p.Asp822Gly)
c.1880A>G (p.Asp627Gly)
c.2591A>G (p.Asp864Gly)
c.1817A>G (p.Asp606Gly)
c.1784A>G (p.Asp595Gly)
n.2818A>G
c.1997A>G (p.Asp666Gly)
n.2812A>G
Xg.53248201T>GCA413157254IQSEC2c.2654A>C (p.Asp885Ala)
c.447A>C
c.2495A>C (p.Asp832Ala)
n.246A>C
c.2465A>C (p.Asp822Ala)
c.1880A>C (p.Asp627Ala)
c.2591A>C (p.Asp864Ala)
c.1817A>C (p.Asp606Ala)
c.1784A>C (p.Asp595Ala)
n.2818A>C
c.1997A>C (p.Asp666Ala)
n.2812A>C
Xg.53248202C>ACA413157262IQSEC2c.2653G>T (p.Asp885Tyr)
c.446G>T
c.2494G>T (p.Asp832Tyr)
n.245G>T
c.2464G>T (p.Asp822Tyr)
c.1879G>T (p.Asp627Tyr)
c.2590G>T (p.Asp864Tyr)
c.1816G>T (p.Asp606Tyr)
c.1783G>T (p.Asp595Tyr)
n.2817G>T
c.1996G>T (p.Asp666Tyr)
n.2811G>T
Xg.53248202C>GCA413157258IQSEC2c.2653G>C (p.Asp885His)
c.446G>C
c.2494G>C (p.Asp832His)
n.245G>C
c.2464G>C (p.Asp822His)
c.1879G>C (p.Asp627His)
c.2590G>C (p.Asp864His)
c.1816G>C (p.Asp606His)
c.1783G>C (p.Asp595His)
n.2817G>C
c.1996G>C (p.Asp666His)
n.2811G>C
Xg.53248202C>TCA413157261IQSEC2c.2653G>A (p.Asp885Asn)
c.446G>A
c.2494G>A (p.Asp832Asn)
n.245G>A
c.2464G>A (p.Asp822Asn)
c.1879G>A (p.Asp627Asn)
c.2590G>A (p.Asp864Asn)
c.1816G>A (p.Asp606Asn)
c.1783G>A (p.Asp595Asn)
n.2817G>A
c.1996G>A (p.Asp666Asn)
n.2811G>A
Xg.53248203C>ACA413157266IQSEC2c.2652G>T (p.Met884Ile)
c.445G>T
c.2493G>T (p.Met831Ile)
n.244G>T
c.2463G>T (p.Met821Ile)
c.1878G>T (p.Met626Ile)
c.2589G>T (p.Met863Ile)
c.1815G>T (p.Met605Ile)
c.1782G>T (p.Met594Ile)
n.2816G>T
c.1995G>T (p.Met665Ile)
n.2810G>T
Xg.53248203C>GCA413157269IQSEC2c.2652G>C (p.Met884Ile)
c.445G>C
c.2493G>C (p.Met831Ile)
n.244G>C
c.2463G>C (p.Met821Ile)
c.1878G>C (p.Met626Ile)
c.2589G>C (p.Met863Ile)
c.1815G>C (p.Met605Ile)
c.1782G>C (p.Met594Ile)
n.2816G>C
c.1995G>C (p.Met665Ile)
n.2810G>C
Xg.53248203C>TCA413157272IQSEC2c.2652G>A (p.Met884Ile)
c.445G>A
c.2493G>A (p.Met831Ile)
n.244G>A
c.2463G>A (p.Met821Ile)
c.1878G>A (p.Met626Ile)
c.2589G>A (p.Met863Ile)
c.1815G>A (p.Met605Ile)
c.1782G>A (p.Met594Ile)
n.2816G>A
c.1995G>A (p.Met665Ile)
n.2810G>A
Xg.53248204A>CCA413157277IQSEC2c.2651T>G (p.Met884Arg)
c.444T>G
c.2492T>G (p.Met831Arg)
n.243T>G
c.2462T>G (p.Met821Arg)
c.1877T>G (p.Met626Arg)
c.2588T>G (p.Met863Arg)
c.1814T>G (p.Met605Arg)
c.1781T>G (p.Met594Arg)
n.2815T>G
c.1994T>G (p.Met665Arg)
n.2809T>G
Xg.53248204A>GCA413157280IQSEC2c.2651T>C (p.Met884Thr)
c.444T>C
c.2492T>C (p.Met831Thr)
n.243T>C
c.2462T>C (p.Met821Thr)
c.1877T>C (p.Met626Thr)
c.2588T>C (p.Met863Thr)
c.1814T>C (p.Met605Thr)
c.1781T>C (p.Met594Thr)
n.2815T>C
c.1994T>C (p.Met665Thr)
n.2809T>C
Xg.53248204A>TCA413157284IQSEC2c.2651T>A (p.Met884Lys)
c.444T>A
c.2492T>A (p.Met831Lys)
n.243T>A
c.2462T>A (p.Met821Lys)
c.1877T>A (p.Met626Lys)
c.2588T>A (p.Met863Lys)
c.1814T>A (p.Met605Lys)
c.1781T>A (p.Met594Lys)
n.2815T>A
c.1994T>A (p.Met665Lys)
n.2809T>A
Xg.53248205T>ACA413157288IQSEC2c.2650A>T (p.Met884Leu)
c.443A>T
c.2491A>T (p.Met831Leu)
n.242A>T
c.2461A>T (p.Met821Leu)
c.1876A>T (p.Met626Leu)
c.2587A>T (p.Met863Leu)
c.1813A>T (p.Met605Leu)
c.1780A>T (p.Met594Leu)
n.2814A>T
c.1993A>T (p.Met665Leu)
n.2808A>T
Xg.53248205T>CCA413157290IQSEC2c.2650A>G (p.Met884Val)
c.443A>G
c.2491A>G (p.Met831Val)
n.242A>G
c.2461A>G (p.Met821Val)
c.1876A>G (p.Met626Val)
c.2587A>G (p.Met863Val)
c.1813A>G (p.Met605Val)
c.1780A>G (p.Met594Val)
n.2814A>G
c.1993A>G (p.Met665Val)
n.2808A>G
 ClinVar
Xg.53248205T>GCA413157294IQSEC2c.2650A>C (p.Met884Leu)
c.443A>C
c.2491A>C (p.Met831Leu)
n.242A>C
c.2461A>C (p.Met821Leu)
c.1876A>C (p.Met626Leu)
c.2587A>C (p.Met863Leu)
c.1813A>C (p.Met605Leu)
c.1780A>C (p.Met594Leu)
n.2814A>C
c.1993A>C (p.Met665Leu)
n.2808A>C
Xg.53248206G>ACA516428280IQSEC2c.2649C>T (p.Ser883=)
c.442C>T
c.2490C>T (p.Ser830=)
n.241C>T
c.2460C>T (p.Ser820=)
c.1875C>T (p.Ser625=)
c.2586C>T (p.Ser862=)
c.1812C>T (p.Ser604=)
c.1779C>T (p.Ser593=)
n.2813C>T
c.1992C>T (p.Ser664=)
n.2807C>T
Xg.53248206G>CCA516428281IQSEC2c.2649C>G (p.Ser883=)
c.442C>G
c.2490C>G (p.Ser830=)
n.241C>G
c.2460C>G (p.Ser820=)
c.1875C>G (p.Ser625=)
c.2586C>G (p.Ser862=)
c.1812C>G (p.Ser604=)
c.1779C>G (p.Ser593=)
n.2813C>G
c.1992C>G (p.Ser664=)
n.2807C>G
Xg.53248206G>TCA516428283IQSEC2c.2649C>A (p.Ser883=)
c.442C>A
c.2490C>A (p.Ser830=)
n.241C>A
c.2460C>A (p.Ser820=)
c.1875C>A (p.Ser625=)
c.2586C>A (p.Ser862=)
c.1812C>A (p.Ser604=)
c.1779C>A (p.Ser593=)
n.2813C>A
c.1992C>A (p.Ser664=)
n.2807C>A
 gnomAD v4
Xg.53248210_53248212delCA2693789475IQSEC2c.2647_2649del (p.Ser883del)
c.440_442del
c.2488_2490del (p.Ser830del)
n.239_241del
c.2458_2460del (p.Ser820del)
c.1873_1875del (p.Ser625del)
c.2584_2586del (p.Ser862del)
c.1810_1812del (p.Ser604del)
c.1777_1779del (p.Ser593del)
n.2811_2813del
c.1990_1992del (p.Ser664del)
n.2805_2807del
 gnomAD v4
Xg.53248207G>ACA413157298IQSEC2c.2648C>T (p.Ser883Phe)
c.441C>T
c.2489C>T (p.Ser830Phe)
n.240C>T
c.2459C>T (p.Ser820Phe)
c.1874C>T (p.Ser625Phe)
c.2585C>T (p.Ser862Phe)
c.1811C>T (p.Ser604Phe)
c.1778C>T (p.Ser593Phe)
n.2812C>T
c.1991C>T (p.Ser664Phe)
n.2806C>T
Xg.53248207G>CCA413157301IQSEC2c.2648C>G (p.Ser883Cys)
c.441C>G
c.2489C>G (p.Ser830Cys)
n.240C>G
c.2459C>G (p.Ser820Cys)
c.1874C>G (p.Ser625Cys)
c.2585C>G (p.Ser862Cys)
c.1811C>G (p.Ser604Cys)
c.1778C>G (p.Ser593Cys)
n.2812C>G
c.1991C>G (p.Ser664Cys)
n.2806C>G
Xg.53248207G>TCA413157304IQSEC2c.2648C>A (p.Ser883Tyr)
c.441C>A
c.2489C>A (p.Ser830Tyr)
n.240C>A
c.2459C>A (p.Ser820Tyr)
c.1874C>A (p.Ser625Tyr)
c.2585C>A (p.Ser862Tyr)
c.1811C>A (p.Ser604Tyr)
c.1778C>A (p.Ser593Tyr)
n.2812C>A
c.1991C>A (p.Ser664Tyr)
n.2806C>A
Xg.53248208A>CCA413157313IQSEC2c.2647T>G (p.Ser883Ala)
c.440T>G
c.2488T>G (p.Ser830Ala)
n.239T>G
c.2458T>G (p.Ser820Ala)
c.1873T>G (p.Ser625Ala)
c.2584T>G (p.Ser862Ala)
c.1810T>G (p.Ser604Ala)
c.1777T>G (p.Ser593Ala)
n.2811T>G
c.1990T>G (p.Ser664Ala)
n.2805T>G
Xg.53248208A>GCA413157310IQSEC2c.2647T>C (p.Ser883Pro)
c.440T>C
c.2488T>C (p.Ser830Pro)
n.239T>C
c.2458T>C (p.Ser820Pro)
c.1873T>C (p.Ser625Pro)
c.2584T>C (p.Ser862Pro)
c.1810T>C (p.Ser604Pro)
c.1777T>C (p.Ser593Pro)
n.2811T>C
c.1990T>C (p.Ser664Pro)
n.2805T>C
Xg.53248208A>TCA413157307IQSEC2c.2647T>A (p.Ser883Thr)
c.440T>A
c.2488T>A (p.Ser830Thr)
n.239T>A
c.2458T>A (p.Ser820Thr)
c.1873T>A (p.Ser625Thr)
c.2584T>A (p.Ser862Thr)
c.1810T>A (p.Ser604Thr)
c.1777T>A (p.Ser593Thr)
n.2811T>A
c.1990T>A (p.Ser664Thr)
n.2805T>A
Xg.53248209G>ACA516428297IQSEC2c.2646C>T (p.Ser882=)
c.439C>T
c.2487C>T (p.Ser829=)
n.238C>T
c.2457C>T (p.Ser819=)
c.1872C>T (p.Ser624=)
c.2583C>T (p.Ser861=)
c.1809C>T (p.Ser603=)
c.1776C>T (p.Ser592=)
n.2810C>T
c.1989C>T (p.Ser663=)
n.2804C>T
Xg.53248209G>CCA516428298IQSEC2c.2646C>G (p.Ser882=)
c.439C>G
c.2487C>G (p.Ser829=)
n.238C>G
c.2457C>G (p.Ser819=)
c.1872C>G (p.Ser624=)
c.2583C>G (p.Ser861=)
c.1809C>G (p.Ser603=)
c.1776C>G (p.Ser592=)
n.2810C>G
c.1989C>G (p.Ser663=)
n.2804C>G
Xg.53248209G>TCA516428300IQSEC2c.2646C>A (p.Ser882=)
c.439C>A
c.2487C>A (p.Ser829=)
n.238C>A
c.2457C>A (p.Ser819=)
c.1872C>A (p.Ser624=)
c.2583C>A (p.Ser861=)
c.1809C>A (p.Ser603=)
c.1776C>A (p.Ser592=)
n.2810C>A
c.1989C>A (p.Ser663=)
n.2804C>A
Xg.53248210G>ACA413157318IQSEC2c.2645C>T (p.Ser882Phe)
c.438C>T
c.2486C>T (p.Ser829Phe)
n.237C>T
c.2456C>T (p.Ser819Phe)
c.1871C>T (p.Ser624Phe)
c.2582C>T (p.Ser861Phe)
c.1808C>T (p.Ser603Phe)
c.1775C>T (p.Ser592Phe)
n.2809C>T
c.1988C>T (p.Ser663Phe)
n.2803C>T
Xg.53248210G>CCA413157323IQSEC2c.2645C>G (p.Ser882Cys)
c.438C>G
c.2486C>G (p.Ser829Cys)
n.237C>G
c.2456C>G (p.Ser819Cys)
c.1871C>G (p.Ser624Cys)
c.2582C>G (p.Ser861Cys)
c.1808C>G (p.Ser603Cys)
c.1775C>G (p.Ser592Cys)
n.2809C>G
c.1988C>G (p.Ser663Cys)
n.2803C>G
Xg.53248210G>TCA413157321IQSEC2c.2645C>A (p.Ser882Tyr)
c.438C>A
c.2486C>A (p.Ser829Tyr)
n.237C>A
c.2456C>A (p.Ser819Tyr)
c.1871C>A (p.Ser624Tyr)
c.2582C>A (p.Ser861Tyr)
c.1808C>A (p.Ser603Tyr)
c.1775C>A (p.Ser592Tyr)
n.2809C>A
c.1988C>A (p.Ser663Tyr)
n.2803C>A
Xg.53248211A>CCA413157328IQSEC2c.2644T>G (p.Ser882Ala)
c.437T>G
c.2485T>G (p.Ser829Ala)
n.236T>G
c.2455T>G (p.Ser819Ala)
c.1870T>G (p.Ser624Ala)
c.2581T>G (p.Ser861Ala)
c.1807T>G (p.Ser603Ala)
c.1774T>G (p.Ser592Ala)
n.2808T>G
c.1987T>G (p.Ser663Ala)
n.2802T>G
Xg.53248211A>GCA413157334IQSEC2c.2644T>C (p.Ser882Pro)
c.437T>C
c.2485T>C (p.Ser829Pro)
n.236T>C
c.2455T>C (p.Ser819Pro)
c.1870T>C (p.Ser624Pro)
c.2581T>C (p.Ser861Pro)
c.1807T>C (p.Ser603Pro)
c.1774T>C (p.Ser592Pro)
n.2808T>C
c.1987T>C (p.Ser663Pro)
n.2802T>C
Xg.53248211A>TCA413157330IQSEC2c.2644T>A (p.Ser882Thr)
c.437T>A
c.2485T>A (p.Ser829Thr)
n.236T>A
c.2455T>A (p.Ser819Thr)
c.1870T>A (p.Ser624Thr)
c.2581T>A (p.Ser861Thr)
c.1807T>A (p.Ser603Thr)
c.1774T>A (p.Ser592Thr)
n.2808T>A
c.1987T>A (p.Ser663Thr)
n.2802T>A
Xg.53248212G>ACA516428303IQSEC2c.2643C>T (p.Phe881=)
c.436C>T
c.2484C>T (p.Phe828=)
n.235C>T
c.2454C>T (p.Phe818=)
c.1869C>T (p.Phe623=)
c.2580C>T (p.Phe860=)
c.1806C>T (p.Phe602=)
c.1773C>T (p.Phe591=)
n.2807C>T
c.1986C>T (p.Phe662=)
n.2801C>T
 gnomAD v4
Xg.53248212G>CCA413157338IQSEC2c.2643C>G (p.Phe881Leu)
c.436C>G
c.2484C>G (p.Phe828Leu)
n.235C>G
c.2454C>G (p.Phe818Leu)
c.1869C>G (p.Phe623Leu)
c.2580C>G (p.Phe860Leu)
c.1806C>G (p.Phe602Leu)
c.1773C>G (p.Phe591Leu)
n.2807C>G
c.1986C>G (p.Phe662Leu)
n.2801C>G
 gnomAD v4
Xg.53248212G>TCA413157340IQSEC2c.2643C>A (p.Phe881Leu)
c.436C>A
c.2484C>A (p.Phe828Leu)
n.235C>A
c.2454C>A (p.Phe818Leu)
c.1869C>A (p.Phe623Leu)
c.2580C>A (p.Phe860Leu)
c.1806C>A (p.Phe602Leu)
c.1773C>A (p.Phe591Leu)
n.2807C>A
c.1986C>A (p.Phe662Leu)
n.2801C>A
Xg.53248213A>CCA413157347IQSEC2c.2642T>G (p.Phe881Cys)
c.435T>G
c.2483T>G (p.Phe828Cys)
n.234T>G
c.2453T>G (p.Phe818Cys)
c.1868T>G (p.Phe623Cys)
c.2579T>G (p.Phe860Cys)
c.1805T>G (p.Phe602Cys)
c.1772T>G (p.Phe591Cys)
n.2806T>G
c.1985T>G (p.Phe662Cys)
n.2800T>G
Xg.53248213A>GCA413157349IQSEC2c.2642T>C (p.Phe881Ser)
c.435T>C
c.2483T>C (p.Phe828Ser)
n.234T>C
c.2453T>C (p.Phe818Ser)
c.1868T>C (p.Phe623Ser)
c.2579T>C (p.Phe860Ser)
c.1805T>C (p.Phe602Ser)
c.1772T>C (p.Phe591Ser)
n.2806T>C
c.1985T>C (p.Phe662Ser)
n.2800T>C
Xg.53248213A>TCA413157351IQSEC2c.2642T>A (p.Phe881Tyr)
c.435T>A
c.2483T>A (p.Phe828Tyr)
n.234T>A
c.2453T>A (p.Phe818Tyr)
c.1868T>A (p.Phe623Tyr)
c.2579T>A (p.Phe860Tyr)
c.1805T>A (p.Phe602Tyr)
c.1772T>A (p.Phe591Tyr)
n.2806T>A
c.1985T>A (p.Phe662Tyr)
n.2800T>A
Xg.53248214A>CCA413157356IQSEC2c.2641T>G (p.Phe881Val)
c.434T>G
c.2482T>G (p.Phe828Val)
n.233T>G
c.2452T>G (p.Phe818Val)
c.1867T>G (p.Phe623Val)
c.2578T>G (p.Phe860Val)
c.1804T>G (p.Phe602Val)
c.1771T>G (p.Phe591Val)
n.2805T>G
c.1984T>G (p.Phe662Val)
n.2799T>G
Xg.53248214A>GCA413157359IQSEC2c.2641T>C (p.Phe881Leu)
c.434T>C
c.2482T>C (p.Phe828Leu)
n.233T>C
c.2452T>C (p.Phe818Leu)
c.1867T>C (p.Phe623Leu)
c.2578T>C (p.Phe860Leu)
c.1804T>C (p.Phe602Leu)
c.1771T>C (p.Phe591Leu)
n.2805T>C
c.1984T>C (p.Phe662Leu)
n.2799T>C
Xg.53248214A>TCA413157362IQSEC2c.2641T>A (p.Phe881Ile)
c.434T>A
c.2482T>A (p.Phe828Ile)
n.233T>A
c.2452T>A (p.Phe818Ile)
c.1867T>A (p.Phe623Ile)
c.2578T>A (p.Phe860Ile)
c.1804T>A (p.Phe602Ile)
c.1771T>A (p.Phe591Ile)
n.2805T>A
c.1984T>A (p.Phe662Ile)
n.2799T>A
Xg.53248215G>ACA516428309IQSEC2c.2640C>T (p.Asp880=)
c.433C>T
c.2481C>T (p.Asp827=)
n.232C>T
c.2451C>T (p.Asp817=)
c.1866C>T (p.Asp622=)
c.2577C>T (p.Asp859=)
c.1803C>T (p.Asp601=)
c.1770C>T (p.Asp590=)
n.2804C>T
c.1983C>T (p.Asp661=)
n.2798C>T
Xg.53248215G>CCA413157366IQSEC2c.2640C>G (p.Asp880Glu)
c.433C>G
c.2481C>G (p.Asp827Glu)
n.232C>G
c.2451C>G (p.Asp817Glu)
c.1866C>G (p.Asp622Glu)
c.2577C>G (p.Asp859Glu)
c.1803C>G (p.Asp601Glu)
c.1770C>G (p.Asp590Glu)
n.2804C>G
c.1983C>G (p.Asp661Glu)
n.2798C>G
Xg.53248215G>TCA413157369IQSEC2c.2640C>A (p.Asp880Glu)
c.433C>A
c.2481C>A (p.Asp827Glu)
n.232C>A
c.2451C>A (p.Asp817Glu)
c.1866C>A (p.Asp622Glu)
c.2577C>A (p.Asp859Glu)
c.1803C>A (p.Asp601Glu)
c.1770C>A (p.Asp590Glu)
n.2804C>A
c.1983C>A (p.Asp661Glu)
n.2798C>A
Xg.53248216T>ACA413157373IQSEC2c.2639A>T (p.Asp880Val)
c.432A>T
c.2480A>T (p.Asp827Val)
n.231A>T
c.2450A>T (p.Asp817Val)
c.1865A>T (p.Asp622Val)
c.2576A>T (p.Asp859Val)
c.1802A>T (p.Asp601Val)
c.1769A>T (p.Asp590Val)
n.2803A>T
c.1982A>T (p.Asp661Val)
n.2797A>T
Xg.53248216T>CCA413157376IQSEC2c.2639A>G (p.Asp880Gly)
c.432A>G
c.2480A>G (p.Asp827Gly)
n.231A>G
c.2450A>G (p.Asp817Gly)
c.1865A>G (p.Asp622Gly)
c.2576A>G (p.Asp859Gly)
c.1802A>G (p.Asp601Gly)
c.1769A>G (p.Asp590Gly)
n.2803A>G
c.1982A>G (p.Asp661Gly)
n.2797A>G
Xg.53248216T>GCA413157379IQSEC2c.2639A>C (p.Asp880Ala)
c.432A>C
c.2480A>C (p.Asp827Ala)
n.231A>C
c.2450A>C (p.Asp817Ala)
c.1865A>C (p.Asp622Ala)
c.2576A>C (p.Asp859Ala)
c.1802A>C (p.Asp601Ala)
c.1769A>C (p.Asp590Ala)
n.2803A>C
c.1982A>C (p.Asp661Ala)
n.2797A>C
Xg.53248217C>ACA413157388IQSEC2c.2638G>T (p.Asp880Tyr)
c.431G>T
c.2479G>T (p.Asp827Tyr)
n.230G>T
c.2449G>T (p.Asp817Tyr)
c.1864G>T (p.Asp622Tyr)
c.2575G>T (p.Asp859Tyr)
c.1801G>T (p.Asp601Tyr)
c.1768G>T (p.Asp590Tyr)
n.2802G>T
c.1981G>T (p.Asp661Tyr)
n.2796G>T
Xg.53248217C>GCA413157382IQSEC2c.2638G>C (p.Asp880His)
c.431G>C
c.2479G>C (p.Asp827His)
n.230G>C
c.2449G>C (p.Asp817His)
c.1864G>C (p.Asp622His)
c.2575G>C (p.Asp859His)
c.1801G>C (p.Asp601His)
c.1768G>C (p.Asp590His)
n.2802G>C
c.1981G>C (p.Asp661His)
n.2796G>C
Xg.53248217C>TCA413157385IQSEC2c.2638G>A (p.Asp880Asn)
c.431G>A
c.2479G>A (p.Asp827Asn)
n.230G>A
c.2449G>A (p.Asp817Asn)
c.1864G>A (p.Asp622Asn)
c.2575G>A (p.Asp859Asn)
c.1801G>A (p.Asp601Asn)
c.1768G>A (p.Asp590Asn)
n.2802G>A
c.1981G>A (p.Asp661Asn)
n.2796G>A
Xg.53248218C>ACA413157394IQSEC2c.2637G>T (p.Met879Ile)
c.430G>T
c.2478G>T (p.Met826Ile)
n.229G>T
c.2448G>T (p.Met816Ile)
c.1863G>T (p.Met621Ile)
c.2574G>T (p.Met858Ile)
c.1800G>T (p.Met600Ile)
c.1767G>T (p.Met589Ile)
n.2801G>T
c.1980G>T (p.Met660Ile)
n.2795G>T
 gnomAD v4
Xg.53248218C>GCA413157395IQSEC2c.2637G>C (p.Met879Ile)
c.430G>C
c.2478G>C (p.Met826Ile)
n.229G>C
c.2448G>C (p.Met816Ile)
c.1863G>C (p.Met621Ile)
c.2574G>C (p.Met858Ile)
c.1800G>C (p.Met600Ile)
c.1767G>C (p.Met589Ile)
n.2801G>C
c.1980G>C (p.Met660Ile)
n.2795G>C
Xg.53248218C>TCA413157400IQSEC2c.2637G>A (p.Met879Ile)
c.430G>A
c.2478G>A (p.Met826Ile)
n.229G>A
c.2448G>A (p.Met816Ile)
c.1863G>A (p.Met621Ile)
c.2574G>A (p.Met858Ile)
c.1800G>A (p.Met600Ile)
c.1767G>A (p.Met589Ile)
n.2801G>A
c.1980G>A (p.Met660Ile)
n.2795G>A
Xg.53248219A=CA2429774934IQSEC2c.2636T= (p.Met879=)
c.429T=
c.2477T= (p.Met826=)
n.228T=
c.2447T= (p.Met816=)
c.1862T= (p.Met621=)
c.2573T= (p.Met858=)
c.1799T= (p.Met600=)
c.1766T= (p.Met589=)
n.2800T=
c.1979T= (p.Met660=)
n.2794T=
Xg.53248219A>CCA413157406IQSEC2c.2636T>G (p.Met879Arg)
c.429T>G
c.2477T>G (p.Met826Arg)
n.228T>G
c.2447T>G (p.Met816Arg)
c.1862T>G (p.Met621Arg)
c.2573T>G (p.Met858Arg)
c.1799T>G (p.Met600Arg)
c.1766T>G (p.Met589Arg)
n.2800T>G
c.1979T>G (p.Met660Arg)
n.2794T>G
Xg.53248219A>GCA16609408IQSEC2c.2636T>C (p.Met879Thr)
c.429T>C
c.2477T>C (p.Met826Thr)
n.228T>C
c.2447T>C (p.Met816Thr)
c.1862T>C (p.Met621Thr)
c.2573T>C (p.Met858Thr)
c.1799T>C (p.Met600Thr)
c.1766T>C (p.Met589Thr)
n.2800T>C
c.1979T>C (p.Met660Thr)
n.2794T>C
 ClinVar dbSNP
Xg.53248219A>TCA413157411IQSEC2c.2636T>A (p.Met879Lys)
c.429T>A
c.2477T>A (p.Met826Lys)
n.228T>A
c.2447T>A (p.Met816Lys)
c.1862T>A (p.Met621Lys)
c.2573T>A (p.Met858Lys)
c.1799T>A (p.Met600Lys)
c.1766T>A (p.Met589Lys)
n.2800T>A
c.1979T>A (p.Met660Lys)
n.2794T>A
Xg.53248220T>ACA413157415IQSEC2c.2635A>T (p.Met879Leu)
c.428A>T
c.2476A>T (p.Met826Leu)
n.227A>T
c.2446A>T (p.Met816Leu)
c.1861A>T (p.Met621Leu)
c.2572A>T (p.Met858Leu)
c.1798A>T (p.Met600Leu)
c.1765A>T (p.Met589Leu)
n.2799A>T
c.1978A>T (p.Met660Leu)
n.2793A>T
Xg.53248220T>CCA413157418IQSEC2c.2635A>G (p.Met879Val)
c.428A>G
c.2476A>G (p.Met826Val)
n.227A>G
c.2446A>G (p.Met816Val)
c.1861A>G (p.Met621Val)
c.2572A>G (p.Met858Val)
c.1798A>G (p.Met600Val)
c.1765A>G (p.Met589Val)
n.2799A>G
c.1978A>G (p.Met660Val)
n.2793A>G
Xg.53248220T>GCA413157420IQSEC2c.2635A>C (p.Met879Leu)
c.428A>C
c.2476A>C (p.Met826Leu)
n.227A>C
c.2446A>C (p.Met816Leu)
c.1861A>C (p.Met621Leu)
c.2572A>C (p.Met858Leu)
c.1798A>C (p.Met600Leu)
c.1765A>C (p.Met589Leu)
n.2799A>C
c.1978A>C (p.Met660Leu)
n.2793A>C
Xg.53248221C>ACA413157423IQSEC2c.2634G>T (p.Glu878Asp)
c.427G>T
c.2475G>T (p.Glu825Asp)
n.226G>T
c.2445G>T (p.Glu815Asp)
c.1860G>T (p.Glu620Asp)
c.2571G>T (p.Glu857Asp)
c.1797G>T (p.Glu599Asp)
c.1764G>T (p.Glu588Asp)
n.2798G>T
c.1977G>T (p.Glu659Asp)
n.2792G>T
Xg.53248221C>GCA413157429IQSEC2c.2634G>C (p.Glu878Asp)
c.427G>C
c.2475G>C (p.Glu825Asp)
n.226G>C
c.2445G>C (p.Glu815Asp)
c.1860G>C (p.Glu620Asp)
c.2571G>C (p.Glu857Asp)
c.1797G>C (p.Glu599Asp)
c.1764G>C (p.Glu588Asp)
n.2798G>C
c.1977G>C (p.Glu659Asp)
n.2792G>C
 ClinVar
Xg.53248221C>TCA516428324IQSEC2c.2634G>A (p.Glu878=)
c.427G>A
c.2475G>A (p.Glu825=)
n.226G>A
c.2445G>A (p.Glu815=)
c.1860G>A (p.Glu620=)
c.2571G>A (p.Glu857=)
c.1797G>A (p.Glu599=)
c.1764G>A (p.Glu588=)
n.2798G>A
c.1977G>A (p.Glu659=)
n.2792G>A
Xg.53248222T>ACA413157432IQSEC2c.2633A>T (p.Glu878Val)
c.426A>T
c.2474A>T (p.Glu825Val)
n.225A>T
c.2444A>T (p.Glu815Val)
c.1859A>T (p.Glu620Val)
c.2570A>T (p.Glu857Val)
c.1796A>T (p.Glu599Val)
c.1763A>T (p.Glu588Val)
n.2797A>T
c.1976A>T (p.Glu659Val)
n.2791A>T
Xg.53248222T>CCA413157436IQSEC2c.2633A>G (p.Glu878Gly)
c.426A>G
c.2474A>G (p.Glu825Gly)
n.225A>G
c.2444A>G (p.Glu815Gly)
c.1859A>G (p.Glu620Gly)
c.2570A>G (p.Glu857Gly)
c.1796A>G (p.Glu599Gly)
c.1763A>G (p.Glu588Gly)
n.2797A>G
c.1976A>G (p.Glu659Gly)
n.2791A>G
Xg.53248222T>GCA413157434IQSEC2c.2633A>C (p.Glu878Ala)
c.426A>C
c.2474A>C (p.Glu825Ala)
n.225A>C
c.2444A>C (p.Glu815Ala)
c.1859A>C (p.Glu620Ala)
c.2570A>C (p.Glu857Ala)
c.1796A>C (p.Glu599Ala)
c.1763A>C (p.Glu588Ala)
n.2797A>C
c.1976A>C (p.Glu659Ala)
n.2791A>C
Xg.53248223C>ACA413157441IQSEC2c.2632G>T (p.Glu878Ter)
c.425G>T
c.2473G>T (p.Glu825Ter)
n.224G>T
c.2443G>T (p.Glu815Ter)
c.1858G>T (p.Glu620Ter)
c.2569G>T (p.Glu857Ter)
c.1795G>T (p.Glu599Ter)
c.1762G>T (p.Glu588Ter)
n.2796G>T
c.1975G>T (p.Glu659Ter)
n.2790G>T
Xg.53248223C>GCA413157444IQSEC2c.2632G>C (p.Glu878Gln)
c.425G>C
c.2473G>C (p.Glu825Gln)
n.224G>C
c.2443G>C (p.Glu815Gln)
c.1858G>C (p.Glu620Gln)
c.2569G>C (p.Glu857Gln)
c.1795G>C (p.Glu599Gln)
c.1762G>C (p.Glu588Gln)
n.2796G>C
c.1975G>C (p.Glu659Gln)
n.2790G>C
 COSMIC
Xg.53248223C>TCA413157446IQSEC2c.2632G>A (p.Glu878Lys)
c.425G>A
c.2473G>A (p.Glu825Lys)
n.224G>A
c.2443G>A (p.Glu815Lys)
c.1858G>A (p.Glu620Lys)
c.2569G>A (p.Glu857Lys)
c.1795G>A (p.Glu599Lys)
c.1762G>A (p.Glu588Lys)
n.2796G>A
c.1975G>A (p.Glu659Lys)
n.2790G>A
Xg.53248224A>CCA413157451IQSEC2c.2631T>G (p.Asp877Glu)
c.424T>G
c.2472T>G (p.Asp824Glu)
n.223T>G
c.2442T>G (p.Asp814Glu)
c.1857T>G (p.Asp619Glu)
c.2568T>G (p.Asp856Glu)
c.1794T>G (p.Asp598Glu)
c.1761T>G (p.Asp587Glu)
n.2795T>G
c.1974T>G (p.Asp658Glu)
n.2789T>G
 gnomAD v4
Xg.53248224A>GCA516428329IQSEC2c.2631T>C (p.Asp877=)
c.424T>C
c.2472T>C (p.Asp824=)
n.223T>C
c.2442T>C (p.Asp814=)
c.1857T>C (p.Asp619=)
c.2568T>C (p.Asp856=)
c.1794T>C (p.Asp598=)
c.1761T>C (p.Asp587=)
n.2795T>C
c.1974T>C (p.Asp658=)
n.2789T>C
Xg.53248224A>TCA413157454IQSEC2c.2631T>A (p.Asp877Glu)
c.424T>A
c.2472T>A (p.Asp824Glu)
n.223T>A
c.2442T>A (p.Asp814Glu)
c.1857T>A (p.Asp619Glu)
c.2568T>A (p.Asp856Glu)
c.1794T>A (p.Asp598Glu)
c.1761T>A (p.Asp587Glu)
n.2795T>A
c.1974T>A (p.Asp658Glu)
n.2789T>A
Xg.53248225T>ACA413157456IQSEC2c.2630A>T (p.Asp877Val)
c.423A>T
c.2471A>T (p.Asp824Val)
n.222A>T
c.2441A>T (p.Asp814Val)
c.1856A>T (p.Asp619Val)
c.2567A>T (p.Asp856Val)
c.1793A>T (p.Asp598Val)
c.1760A>T (p.Asp587Val)
n.2794A>T
c.1973A>T (p.Asp658Val)
n.2788A>T
Xg.53248225T>CCA413157458IQSEC2c.2630A>G (p.Asp877Gly)
c.423A>G
c.2471A>G (p.Asp824Gly)
n.222A>G
c.2441A>G (p.Asp814Gly)
c.1856A>G (p.Asp619Gly)
c.2567A>G (p.Asp856Gly)
c.1793A>G (p.Asp598Gly)
c.1760A>G (p.Asp587Gly)
n.2794A>G
c.1973A>G (p.Asp658Gly)
n.2788A>G
Xg.53248225T>GCA413157460IQSEC2c.2630A>C (p.Asp877Ala)
c.423A>C
c.2471A>C (p.Asp824Ala)
n.222A>C
c.2441A>C (p.Asp814Ala)
c.1856A>C (p.Asp619Ala)
c.2567A>C (p.Asp856Ala)
c.1793A>C (p.Asp598Ala)
c.1760A>C (p.Asp587Ala)
n.2794A>C
c.1973A>C (p.Asp658Ala)
n.2788A>C
Xg.53248226C>ACA413157463IQSEC2c.2629G>T (p.Asp877Tyr)
c.422G>T
c.2470G>T (p.Asp824Tyr)
n.221G>T
c.2440G>T (p.Asp814Tyr)
c.1855G>T (p.Asp619Tyr)
c.2566G>T (p.Asp856Tyr)
c.1792G>T (p.Asp598Tyr)
c.1759G>T (p.Asp587Tyr)
n.2793G>T
c.1972G>T (p.Asp658Tyr)
n.2787G>T
Xg.53248226C>GCA413157465IQSEC2c.2629G>C (p.Asp877His)
c.422G>C
c.2470G>C (p.Asp824His)
n.221G>C
c.2440G>C (p.Asp814His)
c.1855G>C (p.Asp619His)
c.2566G>C (p.Asp856His)
c.1792G>C (p.Asp598His)
c.1759G>C (p.Asp587His)
n.2793G>C
c.1972G>C (p.Asp658His)
n.2787G>C
Xg.53248226C>TCA413157467IQSEC2c.2629G>A (p.Asp877Asn)
c.422G>A
c.2470G>A (p.Asp824Asn)
n.221G>A
c.2440G>A (p.Asp814Asn)
c.1855G>A (p.Asp619Asn)
c.2566G>A (p.Asp856Asn)
c.1792G>A (p.Asp598Asn)
c.1759G>A (p.Asp587Asn)
n.2793G>A
c.1972G>A (p.Asp658Asn)
n.2787G>A
Xg.53248227C>ACA516428337IQSEC2c.2628G>T (p.Val876=)
c.421G>T
c.2469G>T (p.Val823=)
n.220G>T
c.2439G>T (p.Val813=)
c.1854G>T (p.Val618=)
c.2565G>T (p.Val855=)
c.1791G>T (p.Val597=)
c.1758G>T (p.Val586=)
n.2792G>T
c.1971G>T (p.Val657=)
n.2786G>T
Xg.53248227C=CA2429774935IQSEC2c.2628G= (p.Val876=)
c.421G=
c.2469G= (p.Val823=)
n.220G=
c.2439G= (p.Val813=)
c.1854G= (p.Val618=)
c.2565G= (p.Val855=)
c.1791G= (p.Val597=)
c.1758G= (p.Val586=)
n.2792G=
c.1971G= (p.Val657=)
n.2786G=
Xg.53248227C>GCA516428341IQSEC2c.2628G>C (p.Val876=)
c.421G>C
c.2469G>C (p.Val823=)
n.220G>C
c.2439G>C (p.Val813=)
c.1854G>C (p.Val618=)
c.2565G>C (p.Val855=)
c.1791G>C (p.Val597=)
c.1758G>C (p.Val586=)
n.2792G>C
c.1971G>C (p.Val657=)
n.2786G>C
Xg.53248227C>TCA516428344IQSEC2c.2628G>A (p.Val876=)
c.421G>A
c.2469G>A (p.Val823=)
n.220G>A
c.2439G>A (p.Val813=)
c.1854G>A (p.Val618=)
c.2565G>A (p.Val855=)
c.1791G>A (p.Val597=)
c.1758G>A (p.Val586=)
n.2792G>A
c.1971G>A (p.Val657=)
n.2786G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched