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.53248122T>ACA413156820IQSEC2c.2733A>T (p.Glu911Asp)
c.526A>T
c.35A>T
c.2574A>T (p.Glu858Asp)
n.325A>T
c.2544A>T (p.Glu848Asp)
c.1959A>T (p.Glu653Asp)
c.2670A>T (p.Glu890Asp)
c.1896A>T (p.Glu632Asp)
c.1863A>T (p.Glu621Asp)
n.2897A>T
c.2076A>T (p.Glu692Asp)
n.2891A>T
Xg.53248122T>CCA516428073IQSEC2c.2733A>G (p.Glu911=)
c.526A>G
c.35A>G
c.2574A>G (p.Glu858=)
n.325A>G
c.2544A>G (p.Glu848=)
c.1959A>G (p.Glu653=)
c.2670A>G (p.Glu890=)
c.1896A>G (p.Glu632=)
c.1863A>G (p.Glu621=)
n.2897A>G
c.2076A>G (p.Glu692=)
n.2891A>G
Xg.53248122T>GCA413156821IQSEC2c.2733A>C (p.Glu911Asp)
c.526A>C
c.35A>C
c.2574A>C (p.Glu858Asp)
n.325A>C
c.2544A>C (p.Glu848Asp)
c.1959A>C (p.Glu653Asp)
c.2670A>C (p.Glu890Asp)
c.1896A>C (p.Glu632Asp)
c.1863A>C (p.Glu621Asp)
n.2897A>C
c.2076A>C (p.Glu692Asp)
n.2891A>C
Xg.53248123T>ACA413156824IQSEC2c.2732A>T (p.Glu911Val)
c.525A>T
c.34A>T
c.2573A>T (p.Glu858Val)
n.324A>T
c.2543A>T (p.Glu848Val)
c.1958A>T (p.Glu653Val)
c.2669A>T (p.Glu890Val)
c.1895A>T (p.Glu632Val)
c.1862A>T (p.Glu621Val)
n.2896A>T
c.2075A>T (p.Glu692Val)
n.2890A>T
Xg.53248123T>CCA413156828IQSEC2c.2732A>G (p.Glu911Gly)
c.525A>G
c.34A>G
c.2573A>G (p.Glu858Gly)
n.324A>G
c.2543A>G (p.Glu848Gly)
c.1958A>G (p.Glu653Gly)
c.2669A>G (p.Glu890Gly)
c.1895A>G (p.Glu632Gly)
c.1862A>G (p.Glu621Gly)
n.2896A>G
c.2075A>G (p.Glu692Gly)
n.2890A>G
Xg.53248123T>GCA413156827IQSEC2c.2732A>C (p.Glu911Ala)
c.525A>C
c.34A>C
c.2573A>C (p.Glu858Ala)
n.324A>C
c.2543A>C (p.Glu848Ala)
c.1958A>C (p.Glu653Ala)
c.2669A>C (p.Glu890Ala)
c.1895A>C (p.Glu632Ala)
c.1862A>C (p.Glu621Ala)
n.2896A>C
c.2075A>C (p.Glu692Ala)
n.2890A>C
Xg.53248124C>ACA413156831IQSEC2c.2731G>T (p.Glu911Ter)
c.524G>T
c.33G>T
c.2572G>T (p.Glu858Ter)
n.323G>T
c.2542G>T (p.Glu848Ter)
c.1957G>T (p.Glu653Ter)
c.2668G>T (p.Glu890Ter)
c.1894G>T (p.Glu632Ter)
c.1861G>T (p.Glu621Ter)
n.2895G>T
c.2074G>T (p.Glu692Ter)
n.2889G>T
Xg.53248124C=CA2429774916IQSEC2c.2731G= (p.Glu911=)
c.524G=
c.33G=
c.2572G= (p.Glu858=)
n.323G=
c.2542G= (p.Glu848=)
c.1957G= (p.Glu653=)
c.2668G= (p.Glu890=)
c.1894G= (p.Glu632=)
c.1861G= (p.Glu621=)
n.2895G=
c.2074G= (p.Glu692=)
n.2889G=
Xg.53248124C>GCA413156832IQSEC2c.2731G>C (p.Glu911Gln)
c.524G>C
c.33G>C
c.2572G>C (p.Glu858Gln)
n.323G>C
c.2542G>C (p.Glu848Gln)
c.1957G>C (p.Glu653Gln)
c.2668G>C (p.Glu890Gln)
c.1894G>C (p.Glu632Gln)
c.1861G>C (p.Glu621Gln)
n.2895G>C
c.2074G>C (p.Glu692Gln)
n.2889G>C
Xg.53248124C>TCA413156834IQSEC2c.2731G>A (p.Glu911Lys)
c.524G>A
c.33G>A
c.2572G>A (p.Glu858Lys)
n.323G>A
c.2542G>A (p.Glu848Lys)
c.1957G>A (p.Glu653Lys)
c.2668G>A (p.Glu890Lys)
c.1894G>A (p.Glu632Lys)
c.1861G>A (p.Glu621Lys)
n.2895G>A
c.2074G>A (p.Glu692Lys)
n.2889G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53248125G>ACA10419924IQSEC2c.2730C>T (p.Ile910=)
c.523C>T
c.32C>T
c.2571C>T (p.Ile857=)
n.322C>T
c.2541C>T (p.Ile847=)
c.1956C>T (p.Ile652=)
c.2667C>T (p.Ile889=)
c.1893C>T (p.Ile631=)
c.1860C>T (p.Ile620=)
n.2894C>T
c.2073C>T (p.Ile691=)
n.2888C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248125G>CCA413156839IQSEC2c.2730C>G (p.Ile910Met)
c.523C>G
c.32C>G
c.2571C>G (p.Ile857Met)
n.322C>G
c.2541C>G (p.Ile847Met)
c.1956C>G (p.Ile652Met)
c.2667C>G (p.Ile889Met)
c.1893C>G (p.Ile631Met)
c.1860C>G (p.Ile620Met)
n.2894C>G
c.2073C>G (p.Ile691Met)
n.2888C>G
Xg.53248125G=CA2429774917IQSEC2c.2730C= (p.Ile910=)
c.523C=
c.32C=
c.2571C= (p.Ile857=)
n.322C=
c.2541C= (p.Ile847=)
c.1956C= (p.Ile652=)
c.2667C= (p.Ile889=)
c.1893C= (p.Ile631=)
c.1860C= (p.Ile620=)
n.2894C=
c.2073C= (p.Ile691=)
n.2888C=
Xg.53248125G>TCA10419923IQSEC2c.2730C>A (p.Ile910=)
c.523C>A
c.32C>A
c.2571C>A (p.Ile857=)
n.322C>A
c.2541C>A (p.Ile847=)
c.1956C>A (p.Ile652=)
c.2667C>A (p.Ile889=)
c.1893C>A (p.Ile631=)
c.1860C>A (p.Ile620=)
n.2894C>A
c.2073C>A (p.Ile691=)
n.2888C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248126A>CCA413156842IQSEC2c.2729T>G (p.Ile910Ser)
c.522T>G
c.31T>G
c.2570T>G (p.Ile857Ser)
n.321T>G
c.2540T>G (p.Ile847Ser)
c.1955T>G (p.Ile652Ser)
c.2666T>G (p.Ile889Ser)
c.1892T>G (p.Ile631Ser)
c.1859T>G (p.Ile620Ser)
n.2893T>G
c.2072T>G (p.Ile691Ser)
n.2887T>G
Xg.53248126A>GCA413156845IQSEC2c.2729T>C (p.Ile910Thr)
c.522T>C
c.31T>C
c.2570T>C (p.Ile857Thr)
n.321T>C
c.2540T>C (p.Ile847Thr)
c.1955T>C (p.Ile652Thr)
c.2666T>C (p.Ile889Thr)
c.1892T>C (p.Ile631Thr)
c.1859T>C (p.Ile620Thr)
n.2893T>C
c.2072T>C (p.Ile691Thr)
n.2887T>C
Xg.53248126A>TCA413156847IQSEC2c.2729T>A (p.Ile910Asn)
c.522T>A
c.31T>A
c.2570T>A (p.Ile857Asn)
n.321T>A
c.2540T>A (p.Ile847Asn)
c.1955T>A (p.Ile652Asn)
c.2666T>A (p.Ile889Asn)
c.1892T>A (p.Ile631Asn)
c.1859T>A (p.Ile620Asn)
n.2893T>A
c.2072T>A (p.Ile691Asn)
n.2887T>A
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

Number of alleles fetched